Index,targetWord,Sentence A,Sentence B,
0,Dexterity,"Loss of sensory function is a severe impairment for the hand which loses a lot of its dexterity, becomes ""blind"" if not guided by sight and is susceptible to burns, wounds and infections. Nerve repair by sutures or grafts is the preeminent operation if the condition of the skin is good. When skin is damaged, various sensory flaps (both free microvascular and local pedicle) may be used. Island flaps from the pulp of another digit give inconsistent results. Sensory flaps from the back of the index finger to the thumb give a fair two-point discrimination. Free microvascular flaps from the pulp or the web of the hallux or from two or even three toes are safe and good operations which restore both perfect skin coverage and excellent sensory function with good two-point discrimination. The damage at the donor site is well tolerated. When previous operations have covered the digit or the hand by means of non-sensory skin, direct neurotization of this skin is possible. Research has been done in animals showing the formation of free endings inside the neurotized skin. Rehabilitation of the previously existing sensory corpuscles is even possible. Our series includes 12 island flaps from the pulp, 19 pedicle flaps from the dorsum, 17 homodigital reverse flow flaps, 38 different types of free neurovascular flaps from the foot and 3 direct sensory neurotization.","Brain lesions may disturb hand functioning in children with cerebral palsy (CP), making it difficult or even impossible for them to perform several manual activities. Most conventional treatments for hand dysfunction in CP assume that reducing the hand dysfunctions will improve the capacity to manage activities (i.e., manual ability, MA). The aim of this study was to investigate the directional relationships (direct and indirect pathways) through which hand skills influence MA in children with CP. A total of 136 children with CP (mean age: 10?‰years; range: 6-16?‰years; 35 quadriplegics, 24 diplegics, 77 hemiplegics) were assessed. Six hand skills were measured on both hands: touch-pressure detection (Semmes-Weinstein esthesiometer), stereognosis (Manual Form Perception Test), proprioception (passive mobilization of the metacarpophalangeal joints), grip strength (GS) (Jamar dynamometer), gross manual dexterity (GMD) (Box and Block Test), and fine finger dexterity (Purdue Pegboard Test). MA was measured with the ABILHAND-Kids questionnaire. Correlation coefficients were used to determine the linear associations between observed variables. A path analysis of structural equation modeling was applied to test different models of causal relationships among the observed variables. Purely sensory impairments did seem not to play a significant role in the capacity to perform manual activities. According to path analysis, GMD in both hands and stereognosis in the dominant hand were directly related to MA, whereas GS was indirectly related to MA through its relationship with GMD. However, one-third of the variance in MA measures could not be explained by hand skills. It can be concluded that MA is not simply the integration of hand skills in daily activities and should be treated per se, supporting activity-based interventions. ",0
1,Dexterity,"Neurophysiological and psychological tests were administered to 107 patients--48 men and 59 women--with a diagnosis of solvent poisoning after longstanding (mean 9.6 years for males and mean 7.6 years for females) occupational exposure. Electroencephalography (EEG) and a wide psychological test battery were applied in all cases, and electroneurographic measurements were performed in 77 subjects. Sixty-five percent of the patients showed an abnormal EEG, and excessive beta activity, not induced by drugs, was found in 54% of patients. At least one abnormally slow nerve conduction velocity (CV) was found in 48 out of 77 patients. The scores of Wechsler Adult Intelligence Scale (WAIS) subtests Digit Span (DSp) and Digit Symbol (DSy) among the men and scores of Similarities (Sim), Digit Symbol (DSy), Picture Completion (PC), and Block Design (BD) among the women were statistically significantly lower than in the Finnish standardization sample. Long duration of exposure was related to poor performance in the Santa Ana Dexterity test in both sexes, to poor visual memory among the men and to poor visuoconstructive intellectual tasks among the women. The background frequency in the EEG showed a correlation to the DSp test of WAIS and some relationship emerged also between the former and the BD, the Symmetry Drawing test, the Santa Ana Dexterity test, and the Mira test. Focal slow wave abnormalities were related to inaccurate hand movements in the psychomotor Mira test. Neurophysiological and psychological tests seem to reflect partly different aspects of neurologic effects and their combined use helps in the evaluation of hazards of solvent exposure.","  The hand is one of the most complex and important parts of the human body.
The dexterity provided by its multiple degrees of freedom enables us to perform
many of the tasks of daily living which involve grasping and manipulating
objects of interest. Contemporary prosthetic devices for people with
transradial amputations or wrist disarticulation vary in complexity, from
passive prosthetics to complex devices that are body or electrically driven.
One of the important challenges in developing smart prosthetic hands is to
create devices which are able to mimic all activities that a person might
perform and address the needs of a wide variety of users. The approach explored
here is to develop algorithms that permit a device to adapt its behavior to the
preferences of the operator through interactions with the wearer. This device
uses multiple sensing modalities including muscle activity from a myoelectric
armband, visual information from an on-board camera, tactile input through a
touchscreen interface, and speech input from an embedded microphone. Presented
within this paper are the design, software and controls of a platform used to
evaluate this architecture as well as results from experiments deigned to
quantify the performance.
",0
2,Dexterity,"The aim of this study was to extend the understanding of Developmental Coordination Disorder (DCD) into adulthood. We recruited 19 adults aged between 18 and 65 who had received diagnoses of DCD or dyspraxia or who self-reported as having motor impairments consistent with a history of DCD, together with age- and gender-matched controls. Participants were given tests of manual dexterity, handwriting, construction, obstacle avoidance, dynamic balance, static balance, dual task performance, ball skills, reaction time, movement time and sequencing. As a group, adults with DCD performed more poorly than controls across all tasks. Slowness and variability of movement was a pervasive feature of their performance and many individuals had considerable problems with sequencing and with dual task performance. A discriminant function analysis conducted using six performance measures correctly classified participants as car drivers or non-drivers. Adults do retain motor difficulties and these can exclude them from important activities of daily living.","In recent decades, gaming technology has been accepted as a feasible method for complementing traditional clinical practice, especially in neurorehabilitation; however, the viability of using 3D Virtual Reality (VR) for the assessment of upper limb motor function has not been fully explored. For that purpose, we developed a VR-based version of the Box and Blocks Test (BBT), a clinical test for the assessment of manual dexterity, as an automated alternative to the classical procedure. Our VR-based BBT (VR-BBT) integrates the traditional BBT mechanics into gameplay using the Leap Motion Controller (LMC) to capture the user's hand motion and the Oculus Rift headset to provide a fully immersive experience. This paper focuses on evaluating the validity of our VR-BBT to reliably measure the manual dexterity in a sample of patients with Parkinson's Disease (PD). For this study, a group of twenty individuals in a mild to moderate stage of PD were recruited. Participants were asked to perform the physical BBT (once) and our proposed VR-BBT (twice) system, separately. Correlation analysis of collected data was carried out. Statistical analysis proved that the performance data collected by the VR-BBT significantly correlated with the conventional assessment of the BBT. The VR-BBT scores have shown a significant association with PD severity measured by the Hoehn and Yahr scale. This fact suggests that the VR-BBT could be used as a reliable indicator for health improvements in patients with PD. Finally, the VR-BBT system presented high usability and acceptability rated by clinicians and patients.",0
3,Dexterity,"The appropriate suspension system results in a safe and well functioning lower extremity prosthesis. Residual limb length, joint ligament stability, and limb volume determine suspension methods as does activity level, dexterity, success of previous suspension, and cosmetic requirements. The supracondylar suspension cuff, prosthetic sleeves, and gel liners with locking mechanisms generally are indicated for the average to long transtibial amputation level. Short limbs are better fitted with supracondylar and suprapatellar suspension. Waist belts generally are indicated for patients with new amputations or those with vascular compromise. Suction suspension is the most desirable form of transfemoral suspension and is recommended for most standard to long residual limbs. Roll on silicone liners with or without locking pins and the hyperbaric sock offer the patient systems that are easier to don yet still provide unencumbered suspension. The total elastic suspension belt offers excellent auxiliary suspension and can be applied to the prosthesis by the patient. Multiple factors and patient preference should be considered when prescribing suspension systems for lower extremity prostheses.","  We define sound and adequate denotational and operational semantics for the
stochastic lambda calculus. These two semantic approaches build on previous
work that used similar techniques to reason about higher-order probabilistic
programs, but for the first time admit an adequacy theorem relating the
operational and denotational views. This resolves the main issue left open in
(Bacci et al. 2018).
",-1
4,Dexterity,"Short-term effect of hand surgery on hand function in activities of daily life (dexterity) and pain were studied in 70 patients with rheumatoid arthritis. Only surgical interventions aimed at improvement of function and/or pain relief were included in the study. Patients were assessed before surgery and 6 and 12 months after surgery. Clinical change in the surgical group was observed in the number of painful and swollen joints, observed dexterity, and pain in the hand. Six months after surgery 74% of the patients showed positive clinical change in hand functioning and/or hand pain. Clinical effects remained stable between 6 and 12 months after surgical assessments. Both change in observed dexterity and pain had an independent impact on the patient's satisfaction with the results of the surgery.","Frailty is a geriatric syndrome defined by coexistence of unintentional weight loss, low physical reserve, or activity and is associated with adverse health events. Neuroimaging studies reported structural white matter changes in frail patients. In the current study, we hypothesized that clinical frailty is associated also with functional changes in motion-related cortical areas, that is, (pre-)supplementary motor areas (SMA, pre-SMA). We expected that observed functional changes are related to motor-cognitive test performance. We studied a clinical sample of 143 cognitively healthy patients ??5 years presenting for elective surgery, enrolled in the BioCog prospective multicentric cohort study on postoperative cognitive disorders. Participants underwent preoperative resting-state functional magnetic resonance imaging, motor-cognitive testing, and assessment of Fried's modified frailty criteria. We analyzed functional connectivity associations with frailty and motor-cognitive test performance. Clinically robust patients (N????0) showed higher connectivity in the SMA network compared to frail (N????3) and prefrail (N????0) patients. No changes were found in the pre-SMA network. SMA connectivity correlated with motor speed (Trail-Making-Test A) and manual dexterity (Grooved Pegboard Test). Our results suggest that diminished functional connectivity of the SMA is an early correlate of functional decline in the older adults . The SMA may serve as a potential treatment target in frailty.",0
5,Dexterity,"The objective of this study was to examine the structure/function relationship between in vivo cerebellar size and higher cognitive function in a sample of healthy young subjects. The design of the study involved correlation of in vivo cerebellar volume measurements with measures of general intelligence (WAIS-R V&P FSIQ, Vocabulary, Block Design, and Digit Span subtests), motor dexterity (Halstead-Reitan Finger Tapping), verbal (WMS Logical Memory), and visual (Rey-Osterrieth Figure) memory covaring for cerebrum size. A similar analysis was performed using left temporal lobe volumes as a control region. The sample consisted of 62 healthy subjects (30 females, 32 males) enrolled as controls at the MHCRC at the University of Iowa Hospitals and Clinics. This independent sample does not overlap with the groups studied in our previous report on the relationship between cerebellar and brain size and IQ. Cerebellar and total brain size were estimated through automatic, atlas-based volume measurements using MR images obtained with a T1-weighted three-dimensional SPGR sequence on a 1.5-T GE Signa scanner and locally developed software. Cerebellar volume significantly correlated with Finger Tapping (left hand: r = 0.218, p < 0.05; right hand: r = 0.211, p < 0.05) and with memory retention of complex narrative material (r = 0.27, p < 0.02). Cerebellar volume correlated with general intelligence in the expected direction (r = 0.19, p < 0.07). This study confirms previous work indicating that the cerebellum may make a contribution to several aspects of cognition. Cerebellar volume significantly correlated with the ability to retain already encoded information in the verbal domain and with fine motor dexterity. Cerebellar volume positively correlated with general but the relationship did not reach statistical significance. The structural/functional relationship between cerebellum and verbal memory abilities is consistent with evolutionary theory for the phylogenetical increase in the size of the cerebellum.","During laparoscopic appendectomy (LA), the standard technique in securing of the base of the appendix is by endoloop ligatures. However, application of the endoloop demands dexterity and a short training, while hem-o-lok clips may be more advantageous to use due to their simplicity of application and low cost. The objective of this study was to evaluate the technical feasibility and eventual advantages of this way of securing of the base of the appendix.",1
6,Dexterity,"We describe a patient who has been complaining of brief jerk-like, rhythmic, involuntary movements involving the second digit of the left hand for the last three months. These involuntary jerks produced an adduction movement of the second digit and were unaffected by peripheral sensory stimuli. In addition, the patient experienced loss of dexterity in the left hand. On examination the patient showed hypotrophy of the first dorsal interosseous (FDI) muscle of the left hand and a dissociated sensory loss involving the C8-T1 dermatomes. Magnetic resonance imaging of the brain and spinal cord revealed a tonsilar hemiation characteristic of the Chiari I malformation associated with a syrinx extending from C4 to D5 that did not communicate with the fourth ventricle. The electrophysiological evaluation indicated the presence of a focal myoclonus of spinal origin that is likely to be caused by the syrinx.","Immersive Virtual Reality (VR) systems allow for highly repetitive tasks to be performed within a virtual environment that increases practice in home environments. VR can increase access to rehabilitation by reducing access barriers. However, rehabilitation outcomes between immersive VR systems and conventional physical rehabilitation are not well understood. The purpose of this case study was to assess the use of a custom clinically based VR simulation for testing gross hand dexterity with an individual with chronic stroke.",0
7,Dexterity,"The neurobehavioral effects of lead (organic and inorganic) and organic solvents were compared in 386 U.S. workers (52 reference, 190 lead, and 144 solvent workers). The association between neurobehavioral test performance and duration of exposure to lead or solvents was also examined and compared. The neurobehavioral test battery consisted of examiner and computer-administered neurobehavioral tests, a test of olfactory function, and questionnaires that assessed neuropsychiatric symptoms. Adjusted mean differences on the neurobehavioral test scores were estimated by comparing the exposed group to the referent group using linear regression and adjusting for premorbid intellectual ability, age, and race. Both lead and solvents were associated with diminished neurobehavioral performance in all neurobehavioral areas tested. Specifically, while lead and solvent exposure had the same magnitude of adverse effects on tests of manual dexterity, lead exposure was associated with greater adverse effects on memory and learning tests but with less adverse effects on executive/motor tests and on a test of olfaction than solvent exposure. An elevated number of neuropsychiatric symptoms was reported by 7% of the referent group, 43% of the lead group, and 15% of the solvent group. For exposure duration of < or = 10 years, more neurobehavioral decrements were found in the solvent group relative to the lead group. However, for exposure duration of > or = 18 years, the lead group showed more decrements than the solvent group. Overall, these data suggest differences in neurobehavioral functioning between the lead (organic and inorganic) and solvent exposed workers examined in this study.","Computerized interfaces are able to represent 3D immersive simulations. Most of them make use of joystick, mouse, gloves, or grasp pressure transducers. Those have the drawback of 'filtering' the user interaction and/or de-locate the touch with respect to the visual stimulus. To overcome this we developed dexterity rehabilitation games on a novel touch interface that measures also force. The system allows dexterity training through 'direct' manipulation of virtual objects in 3D. Two dimensions via the touch screen, the third by the force channel. Tactile feedback is provided with a vibration device mounted on the screen back.",1
8,Dexterity,"Potentially interactive effects of hypertension and age on the performance of neuropsychological and information processing tests were examined in 123 untreated hypertensive and 50 normotensive men. After covarying education, average alcohol consumption, trait anxiety, and depression scores, results indicated an interaction of age and hypertension. Young hypertensive men (23-40 years) scored significantly worse than young normotensive men on tests of attention/executive function and working memory; middle-aged hypertensive (41-56 years) and normotensive participants were not distinguished by any measures. Hypertensive men performed significantly more poorly than normotensive men on tests of manual dexterity. Results suggest that neuropsychological sequelae of hypertension are more pronounced in young than in middle-aged hypertensive individuals and are independent of various demographic, psychosocial, and alcohol-related factors.","The combination of large mastoid processes and clavicles is unique to humans, but the biomechanical and evolutionary significance of their special configuration is poorly understood. As part of the newly conceptualized shoulder suspension apparatus, the mastoid processes and clavicles are shaped by forces exerted by the musculo-fascial components of the cleidomastoid and clavotrapezius muscles as they suspend the shoulders from the head. Because both skeletal elements develop during infancy in tandem with the attainment of an upright posture, increased manual dexterity, and the capacity for walking, we hypothesized that the same forces would have shaped them as the shoulder suspension apparatus evolved in ancestral humans in tandem with an upright posture, increased manual dexterity, and bipedality with swinging arms. Because the shoulder suspension apparatus is subjected to asymmetrical forces from handedness, we predicted that its skeletal features would grow asymmetrically. We used this prediction to test our hypothesis in a natural experiment to correlate the size of the skeletal features with the forces exerted on them. We (1) measured biomechanically relevant bony features within the shoulder suspension apparatus in 101 male human specimens (62 of known handedness); and (2) modeled and analyzed the forces within the shoulder suspension apparatus from X-ray CT data. We identified eight right-handed characters and demonstrated the causal relationship between these right-handed characters and the magnitude and direction of forces acting on them. Our data suggest that the presence of the shoulder suspension apparatus in humans was a necessary precondition for human bipedality.",1
9,Dexterity,"The strong right hand preference in humans remains a riddle; no lateralized behavior other than fine finger dexterity relates to it. The relation between handedness and language dominance may be far weaker than currently judged; after all, both right-handers and non-right-handers utilize the left brain for speech. There is, however, a lateralized motor preference in animals, turning behavior, that is strongly associated with hemispheric dopamine (DA) asymmetries. Turning consistently occurs towards the side with less DA. The authors tested 69 right-handers and 24 non-right-handers with a device recording spontaneous turning behavior for 20 hr within 3 days. Findings indicate that right-handers preferred left-sided turning and non-right-handers preferred right-sided turning. This result suggests a link between handedness and DA asymmetries.","  Sgr A* exhibits flares in the near-infrared and X-ray bands, with the
luminosity in these bands increasing by factors of $10-100$ for $\approx 60$
minutes. One of the models proposed to explain these flares is synchrotron
emission of non-thermal particles accelerated by magnetic reconnection events
in the accretion flow. We use the results from PIC simulations of magnetic
reconnection to post-process 3D two-temperature GRMHD simulations of a
magnetically arrested disc (MAD). We identify current sheets, retrieve their
properties, estimate their potential to accelerate non-thermal particles and
compute the expected non-thermal synchrotron emission. We find that the flux
eruptions of MADs can provide suitable conditions for accelerating non-thermal
particles to energies $\gamma_e \lesssim 10^6$ and producing simultaneous X-ray
and near-infrared flares. For a suitable choice of current-sheet parameters and
a simpified synchrotron cooling prescription, the model can simultaneously
reproduce the quiescent and flaring X-ray luminosities as well as the X-ray
spectral shape. While the near-infrared flares are mainly due to an increase in
the temperature near the black hole during the MAD flux eruptions, the X-ray
emission comes from narrow current sheets bordering highly magnetized,
low-density regions near the black hole and equatorial current sheets where the
flux on the black hole reconnects. As a result, not all infrared flares are
accompanied by X-ray ones. The non-thermal flaring emission can extend to very
hard ($\lesssim 100$ keV) X-ray energies.
",-1
0,Paraplegia,"A 19-year-old woman with a large benign hepatocellular adenoma is presented. The initial symptom was continuous anaemia demanding transfusions twice a month. Coeliac angiography revealed the hepatic tumour, which was thought to be malignant. Angiography produced permanent paraplegia as a complication. The tumour was radically removed by an extended right lobectomy. The weight of the operation specimen was 2200 g. Histologically the differential diagnosis layed between benign hepatocellular adenoma and hepatocellular carcinoma. Postoperative stricture of the common duct developed as a complication of T-tube and was successfully treated at reoperation. Liver function became totally restored after the operation and after 5 years' follow-up there has been no tumour recurrence. The very rare benign hepatocellular adenomas are discussed.","Pain is a common symptom of pancreatic disease and is frequently difficult to manage. Pain relief provided by narcotics is often suboptimal and is associated with significant side effects. An alternative approach to pain management in pancreatic disease is the use of celiac plexus block (CPB) or neurolysis (CPN). Originally performed by anesthesiologists and radiologists via a posterior approach, recent advances in endoscopic ultrasonography (EUS) have made this technique an attractive alternative. EUS guided celiac plexus block/neurolysis is simple to perform and avoids serious complications such as paraplegia or pneumothorax that are associated with the posterior approach. EUS guided CPN should be considered first line therapy in patients with pain due to pancreatic cancer. It provides superior pain control compared to traditional management with narcotics. A trend for improved survival in pancreatic cancer patients treated with CPN has been reported, but larger studies are needed to confirm this finding. At this time, the use of EUS guided CPB cannot be recommended as routine therapy for pain in chronic pancreatitis since only one-half of the patients experience pain reduction and the beneficial effect tends to be short lived. EUS guided CPB and CPN should be used as part of a multidisciplinary team approach for pain management.",0
1,Paraplegia,To develop an effective selection procedure for lower limb functional neurostimulation (LLFNS) for standing in paraplegia.,"Fatty acid 2-hydroxylase (FA2H) is responsible for the synthesis of myelin galactolipids containing hydroxy fatty acid (hFA) as the N-acyl chain. Mutations in the FA2H gene cause leukodystrophy, spastic paraplegia, and neurodegeneration with brain iron accumulation. Using the Cre-lox system, we developed two types of mouse mutants, Fa2h(-/-) mice (Fa2h deleted in all cells by germline deletion) and Fa2h(flox/flox) Cnp1-Cre mice (Fa2h deleted only in oligodendrocytes and Schwann cells). We found significant demyelination, profound axonal loss, and abnormally enlarged axons in the CNS of Fa2h(-/-) mice at 12 months of age, while structure and function of peripheral nerves were largely unaffected. Fa2h(-/-) mice also exhibited histological and functional disruption in the cerebellum at 12 months of age. In a time course study, significant deterioration of cerebellar function was first detected at 7 months of age. Further behavioral assessments in water T-maze and Morris water maze tasks revealed significant deficits in spatial learning and memory at 4 months of age. These data suggest that various regions of the CNS are functionally compromised in young adult Fa2h(-/-) mice. The cerebellar deficits in 12-month-old Fa2h(flox/flox) Cnp1-Cre mice were indistinguishable from Fa2h(-/-) mice, indicating that these phenotypes likely stem from the lack of myelin hFA-galactolipids. In contrast, Fa2h(flox/flox) Cnp1-Cre mice did not show reduced performance in water maze tasks, indicating that oligodendrocytes are not involved in the learning and memory deficits found in Fa2h(-/-) mice. These findings provide the first evidence that FA2H has an important function outside of oligodendrocytes in the CNS.",0
2,Paraplegia,"The patient was a 45-year-old female diagnosed with aortitis syndrome and aortic regurgitation (AR). She had been taking steroid therapy since 1975. She had recently developed congestive heart failure due to AR while both the ascending aorta and aortic arch were enlarged. She had no inflammatory reaction on admission. An aortogram showed heavy dilation of both the ascending aorta and aortic arch and maximum diameters was 11 cm in the ascending aorta and 4.5 cm in the descending aorta. There was an obstruction of the left subclavian artery. Moderate AR was seen on an echocardiogram. She had a simultaneous graft replacement of aortic root and total arch. The aortic root was replaced with composite graft and coronary arteries were implanted using Carrel's patch technique, and the aortic arch was also replaced with a graft with two side branches. The postoperative course was uneventful without complication of cerebral infarction or paraplegia. The postoperative aortogram showed stenosis of the left carotid artery, but no abnormality of the coronary orifices and graft anastomosis. She returned home with disappearance of symptoms of congestive heart failure.","For persons with spinal cord injury (SCI), severe bodily pain is related to a lower quality of life. However, the effect of pain from a specific body region on quality of life has yet to be determined. The shoulder joint is a common site of pain among persons with SCI. Therefore, our purpose was to identify the relationship of self-reported shoulder pain with quality of life, physical activity, and community activities in persons with paraplegia resulting from SCI.",0
3,Paraplegia,"Syphilitic myelitis is a very rare manifestation of neurosyphilis. The MRI appearance of syphilitic myelitis is not well documented and only a few cases have been reported. We present a 52-year-old woman with acute onset of paraplegia. Magnetic resonance imaging of the spine showed diffuse high signal intensity in the whole spinal cord on T2-weighted images. Focal enhancement was observed in the dorsal aspect of the thoracic cord on T1-weighted gadolinium-enhanced images. To our knowledge, diffuse spinal cord abnormality in syphilitic myelitis has not been reported in the international literature. Disappearance of the diffuse high-signal lesions with residual focal enhancement was noted after antibiotic therapy. The patient suffered significant neurological deficit despite improvement in the MR images. In this article we present the imaging findings and review the literature of this rare condition.","Joint or segment angle trajectories of able-bodied persons are often recorded or mimicked as reference trajectories for walking restoration in paraplegia. In this paper, lower limb segment angle trajectories are computed from simple mathematical models developed to represent functional electrical stimulation (FES) and a novel brace based walking. The new models incorporate the double support and single support phases of walking. Dynamic optimization is utilized to design walking trajectories that minimize muscle activations and arm reaction forces generated from the walker. Compared to the voluntary walking trajectories, the new trajectories are more representative of FES-based walking as only a limited number of muscle are stimulated to compute walking trajectories.",0
4,Paraplegia,"The authors report their experience with 70 pediatric patients with spinal cord compression (SCC) due to malignancies identified among 898 patients with solid tumors. An extradural tumor was the most frequent cause of SCC (71%); 54% of these were soft tissue sarcomas and neuroblastoma. Most intradural tumors (70%) were outside the spinal cord, 9/12 being metastatic medulloblastomas. The SCC localized mainly to the dorsal and lumbosacral regions (42% each). Pain was the most common symptom (94%). MRI proved diagnostic in all cases in which it was used, while myelography was diagnostic in 85% of 26 patients. CT scan demonstrated the lesion in 83% of the patients. Laminectomy was provided for patients with paraplegia of less than 96 h evolution; isolated recurrence of the main tumor; a primary spinal cord tumor; progression of neurologic symptoms after chemotherapy/radiotherapy; chemotherapy and radiotherapy-resistant tumor (when known); resection of a paraspinal tumor. Surgery was avoided when prognosis of primary disease was poor or risks exceeded possible benefits. Twelve/twenty-one (57%) patients with paraplegia were able to walk after laminectomy only, while 14% (2/14) improved after chemotherapy and radiotherapy. Survival rates were 38% for the former and 36% for the latter. Overall survival was related to the original malignancy. All patients (12) admitted without paraplegia and submitted to laminectomy were able to walk, and of these, 6 presented a primary spinal cord tumor. The remaining had paraspinal tumors that extended to the spinal canal. Almost 87% (20/23) of the patients without paraplegia who submitted to medical treatment were able to walk, while only one progressed to paraplegia. Patients with SCC may entertain radio- and chemotherapy when harboring tumors responding to such therapies and present no evidence of neurologic damage progression. The latter manifestation is a strong indication for laminectomy without delay.","SPOAN syndrome is a neurodegenerative disorder mainly characterized by spastic paraplegia, optic atrophy and neuropathy (SPOAN). Affected patients are wheelchair bound after 15 years old, with progressive joint contractures and spine deformities. SPOAN patients also have sub normal vision secondary to apparently non-progressive congenital optic atrophy. A potential causative gene was mapped at 11q13 ten years ago. Here we performed next-generation sequencing in SPOAN-derived samples. While whole-exome sequencing failed to identify the causative mutation, whole-genome sequencing allowed to detect a homozygous 216-bp deletion (chr11.hg19:g.66,024,557_66,024,773del) located at the non-coding upstream region of the KLC2 gene. Expression assays performed with patient's fibroblasts and motor neurons derived from SPOAN patients showed KLC2 overexpression. Luciferase assay in constructs with 216-bp deletion confirmed the overexpression of gene reporter, varying from 48 to 74%, as compared with wild-type. Knockdown and overexpression of klc2 in Danio rerio revealed mild to severe curly-tail phenotype, which is suggestive of a neuromuscular disorder. Overexpression of a gene caused by a small deletion in the non-coding region is a novel mechanism, which to the best of our knowledge, was never reported before in a recessive condition. Although the molecular mechanism of KLC2 up-regulation still remains to be uncovered, such example adds to the importance of non-coding regions in human pathology. ",0
5,Paraplegia,"Among all kinds of pain, deafferentation pain is the most physically and mentally debilitative; this affliction is often resistant to medications and to the effects of ablative neurosurgical procedures. Since the introduction of neurostimulation as a method of treatment of pain, stimulation of the sensory thalamic relay nucleus has been proven effective in the majority of cases of patients suffering from deafferentation pain. The method used for thalamic stimulation and the results obtained in a series of 89 patients treated from October 1978 to October 1985 will be presented. Postherpetic trigeminal pain has the best chance of responding to thalamic stimulation with a long-term success rate of 80%. This is also true for anesthesia dolorosa of any origin (after ablative surgery, nerve lesions, paraplegia). In the opposite, only 50% of patients with either brachial plexus avulsion or thalamic pain syndrome will have a significant benefit from thalamic stimulation. It would appear that the success of thalamic stimulation in these disorders may be dependent upon the extent of the central lesion from the periphery up to the thalamic regions (dorsal horn destruction, lesions of the thalamus).","A family with homocarnosinosis was reported in the literature in 1976. Three affected siblings had spastic paraplegia, retinitis pigmentosa, mental retardation, and cerebrospinal fluid (CSF) homocarnosine concentrations 20 times higher than in controls. Based on the clinical findings and new genetic techniques, we have been able to establish a precise genetic diagnosis.",0
6,Paraplegia,"Among 50 patients with small cell bronchogenic carcinoma who were placed on a protocol of combined chemotherapy and radiation therapy, seven patients developed recurrence in the spinal cord. Five cases terminated in paraplegia and death. One patient with pontine recurrence recovered with local radiation therapy. One patient, diagnosed early, responded to local radiation therapy and is ambulatory. Methods of diagnosis were myelogram, computerized axial tomography, cerebro spinal fluid, chemistry and cytologies. The poor prognosis and the difficulty of diagnosis suggest that we should evaluate prophylactic therapy of the entire cranio-spinal axis.","PNPLA6-related disorders include several phenotypes, such as Boucher-Neuhäuser syndrome, Gordon Holmes syndrome, spastic paraplegia, photoreceptor degeneration, Oliver-McFarlane syndrome and Laurence-Moon syndrome. In this study, detailed clinical evaluations and genetic testing were performed in five (4 Chinese and 1 Caucasian/Chinese) syndromic retinal dystrophy patients. Genotype-phenotype correlations were analyzed based on review of the literatures of previously published PNPLA6-related cases. The mean age of patients and at first visit were 20.8 years (11, 12, 25, 28, 28) and 14.2 years (4, 7, 11, 24, 25), respectively. They all presented with severe chorioretinal dystrophy and profoundly decreased vision. The best corrected visual acuity (BCVA) ranged from 20/200 to 20/2000. Systemic manifestations included cerebellar ataxia, hypogonadotropic hypogonadism and hair anomalies. Six novel and three reported pathogenic variants in PNPLA6 (NM_001166111) were identified. The genotypes of the five cases are: c.3134C > T (p.Ser1045Leu) and c.3846+1G > A, c.3547C > T (p.Arg1183Trp) and c.1841+3A > G, c.3436G > A (p.Ala1146Thr) and c.2212-10A > G, c.3436G > A (p.Ala1146Thr) and c.2266C > T (p.Gln756*), c.1238_1239insC (p.Leu414Serfs*28) and c.3130A > G (p.Thr1044Ala). RT-PCR confirmed that the splicing variants indeed led to abnormal splicing. Missense variants p.Thr1044Ala, p.Ser1045Leu, p.Ala1146Thr, p.Arg1183Trp and c.3846+1G > A are located in Patatin-like phospholipase (Pat) domain. In conclusion, we report the phenotypes in five patients with PNPLA6 associated syndromic retinal dystrophy with variable systemic involvement and typical choroideremia-like fundus changes. Ocular manifestations may be the first and the only findings for years. All of our patients carried one severe deleterious variant (stop-gain or splicing variant) and one milder variant (missense variant). Retinal involvement was significantly correlated with severe deleterious variants and variants in Pat domain.",0
7,Paraplegia,"Two young children suffering from acute thoracic kyphosis due to vertebral tuberculosis (Pott's disease) are described. One patient presented with recent onset spastic paraplegia due to cord compression. Anterior decompression and stabilization with a vascularized rib strut graft was performed in both patients. The neurological recovery in the compromised patient was remarkable; spinal stability was achieved in both patients, thus avoiding the necessity for a posterior spinal fusion.","Corticospinal motor neurons (CSMN) are the cortical component of motor neuron circuitry, which controls voluntary movement and degenerates in diseases such as amyotrophic lateral sclerosis, primary lateral sclerosis and hereditary spastic paraplegia. By using dual labeling combined with molecular marker analysis, we identified AAV2-2 mediated retrograde transduction as an effective approach to selectively target CSMN without affecting other neuron populations both in wild-type and hSOD1(G93A) transgenic ALS mice. This approach reveals very precise details of cytoarchitectural defects within vulnerable neurons in vivo. We report that CSMN vulnerability is marked by selective degeneration of apical dendrites especially in layer II/III of the hSOD1(G93A) mouse motor cortex, where cortical input to CSMN function is vastly modulated. While our findings confirm the presence of astrogliosis and microglia activation, they do not lend support to their direct role for the initiation of CSMN vulnerability. This study enables development of targeted gene replacement strategies to CSMN in the cerebral cortex, and reveals CSMN cortical modulation defects as a potential cause of neuronal vulnerability in ALS.",0
8,Paraplegia,"The effects of differing strategies of serotonergic manipulation on vascular permeability, prostaglandin E2 (PGE2) synthesis, and the clinical course are evaluated in an experimental model of neoplastic spinal cord compression in rats. Serotonergic manipulations include in vivo inhibition of serotonin (5-HT) synthesis by p-chlorophenylalanine (p-CPA) and in vivo blockage of serotonin type 2 (5-HT2) receptors either by the selective antagonist ketanserin or by cyproheptadine. In paralyzed rats, the ratio of 5-hydroxyindole-3-acetic acid (5-HIAA) to 5-HT is significantly elevated in the compressed segments, suggesting that 5-HT utilization is increased. Treatment with p-CPA attenuates spinal 5-HT levels by 62.8% +/- 5.1% (mean +/- standard deviation) and reduces the elevated 5-HIAA:5-HT ratio to the normal value. The increased synthesis of PGE2 observed in the compressed cord is unaffected by p-CPA or ketanserin treatment but is markedly attenuated by cyproheptadine. Ketanserin reduces the 10-fold increase in spinal cord permeability observed in paralyzed rats in a clearly dose-related manner. If given at the first sign of neurological dysfunction, ketanserin delays the onset of paraplegia with the 1-mg/kg dose being clearly superior. Cyproheptadine and p-CPA also reduce the increased permeability and protract the course to paraplegia. A comparison of the effect of dexamethasone, indomethacin, cyproheptadine, p-CPA, and ketanserin reveals that they protract the disease course by 48%, 57%, 60%, 64%, and 78%, respectively. These data suggest that 5-HT2 receptors mediate some of the deleterious vascular consequences observed in the compressed spinal cord by a mechanism not coupled with PGE2 synthesis. A potential benefit of serotonergic manipulations for the acute treatment of neoplastic spinal cord compression is suggested.","A 5-month-old intact female mixed cat presented with repetitive paraplegia and drainage of pus from the back despite continuous antibiotic medication. Neurologic examination was consistent with below T3-L3 myelopathy. Computed tomography and magnetic resonance imaging revealed a contrast-enhanced mass in the L1-3 spinal canal, and bone fragments in the T13 and L1 spinal canal. Spinal epidural empyema was suspected, and hemilaminectomy was performed for T12-L2 on the right side and T11-12 on the left side. Bone fragments were diagnosed as sequestrum infected with Bacteroides sp. The cat recovered enough to ambulate next day. One month after surgery, there was no deficit in neurological function. This is the first report of spinal epidural empyema concurrent with sequestrum in a cat.",0
9,Paraplegia,"We describe a previously independent T11 paraplegic patient who had delayed-onset hand weakness and recurrent pneumonia caused by myotonic dystrophy. A man in his late thirties suffered a thoracic spinal cord injury (SCI) from a gunshot wound at the age of 17 years, with resultant T11 American Spinal Injury Association class A paraplegia. He lived independently until the age of 36 years when he was hospitalized multiple times for pneumonia. During a rehabilitation stay after one of the acute hospitalizations, the patient's hand weakness and diffuse muscular atrophy were noted. Electrodiagnostic testing was performed, which showed myotonic discharges. Genetic testing was consistent with myotonic dystrophy. This case shows the importance of considering causes of weakness that affect the population as a whole when evaluating a patient with SCI who presents with delayed-onset weakness.","Extramedullary hematopoiesis (EMH) occurs in patients with various hematologic disorders involving a chronic increase in the production of red blood cells, and is often associated polycythemia vera and sickle cell anaemia, but is less common with thalassemia especially with hemoglobin E-beta thalassemia. Spinal cord compression due to EMH is a extremely rare complication of thalassemia and may present with paraparesis or paraplegia with or without sensory impairment. Treatment options mostly include surgery and/or radiotherapy. Whereas cases presenting with paraplegia have been treated with either surgery or radiotherapy with equal frequency and efficacy, almost all reported cases with paraplegia have been treated with surgery with or without radiation therapy. We hereby report a case of hemoglobin E-beta thalassemia with paraplegia treated successfully with radiotherapy.",0
0,Quadriplegia,"Spinal cord injury occurs predominantly in males, and endometrial cancer in a patient with spinal cord injury is very rare. A 71-year-old woman, gravida 7, para 4, who had incomplete quadriplegia due to a spinal cord injury, was admitted with a complaint of genital bleeding. Biopsies of the cervix and the endometrium revealed endometrioid adenocarcinoma. Total abdominal hysterectomy was performed under general anesthesia. Pathohistological analysis revealed endometrial adenocarcinoma (G1) with squamous metaplasia and International Federation of Gynecology and Obstetrics (FIGO) surgical stage 2b. Local recurrence was not obvious after the surgery. However, lung metastasis appeared on postoperative day 225, and she died from dyspnea on day 277. Uterine cancer screening is more necessary in long-term bedridden women.","Epileptic seizures are associated with a higher incidence of Developmental Disabilities and Cerebral Palsy. Early evaluation and management of epilepsy is strongly recommended. We propose and discuss an application to predict epilespy (PredictMed-Epilepsy) and seizures via a deep-learning module (PredictMed-Seizures) encompassed within a multi-agent based healthcare system (PredictMed-MHS); this system is meant, in perspective, to be integrated into a clinical decision support system (PredictMed-CDSS). PredictMed-Epilespy, in particular, aims to identify factors associated with epilepsy in children with Developmental Disabilities and Cerebral Palsy by using a prediction-learning model named PredictMed. PredictMed-epilespy methods: We performed a longitudinal, multicenter, double-blinded, descriptive study of one hundred and two children with Developmental Disabilities and Cerebral Palsy (58 males, 44 females; 65 inpatients, 37 outpatients; 72 had epilepsy - 22 of intractable epilepsy, age: 16.6±1.2y, range: 12-18y). Data from 2005 to 2021 on Cerebral Palsy etiology, diagnosis, type of epilepsy and spasticity, clinical history, communication abilities, behaviors, intellectual disability, motor skills, and eating and drinking abilities were collected. The machine-learning model PredictMed was exploited to identify factors associated with epilepsy. The guidelines of the ""Transparent Reporting of a multivariable prediction model for Individual Prognosis or Diagnosis"" Statement (TRIPOD) were followed. PredictMed-epilepsy results: Cerebral Palsy etiology [(prenatal > perinatal > postnatal causes) p=0.036], scoliosis (p=0.048), communication (p=0.018) and feeding disorders (p=0.002), poor motor function (p<0.001), intellectual disabilities (p=0.007), and type of spasticity [(quadriplegia/triplegia > diplegia > hemiplegia), p=0.002)] were associated with having epilepsy. The prediction model scored an average of 82% of accuracy, sensitivity, and specificity. Thus, PredictMed defined the computational phenotype of children with Developmental Disabilities/Cerebral Palsy at risk of epilepsy. Novel contribution of the work: We have been developing and we have prototypically implemented a Multi-Agent Systems (MAS) that encapsulates the PredictMed-Epilepsy module. More specifically, we have implemented the Patient Observing MAS (PoMAS), which, as a novelty w.r.t. the existing literature, includes a complex event processing module that provides real-time detention of short- and long-term events related to the patient's condition.",0
1,Quadriplegia,"3-Methylglutaconic (3-MGC) aciduria with 3-methylglutaconyl-CoA hydratase deficiency (3-MGC aciduria type I) is a rare inherited metabolic disease of L-leucine catabolism. We describe a 9-month-old Japanese boy with this disorder who showed progressive neurological impairments presented as quadriplegia, athetoid movements and severe psychomotor retardation from 4 months of age. This finding indicates the existence of clinical heterogeneity in 3-MGC aciduria type I, suggesting it may present as a neurometabolic disease.","Studies on the effects of exercise training in persons with cervical spinal cord injury (CSCI) are scarce. The aim of this study was to determine the effect of an 8-week stationary arm-crank exercise (ACE) training programme on the level of autonomy, exercise performance, pulmonary functional parameters and resting heart rate variability (HRV) in persons with CSCI. Quadriplegia Index of Function (QIF), arm-crank peak power output (Ppeak), spirometric variables, and HRV indices were measured before and after the training programme in a group of 11 persons with CSCI. ACE training increased Ppeak in both groups (",0
2,Quadriplegia,"Eleven survivors of Reye's syndrome ranging in age from 9 months to 12 years were evaluated for neurological and psychoeducational sequelae. Seven children showed significant neuropsychological sequelae, ranging from severe global psychomotor retardation to mild specific perceptual and/or language impairments and from spastic quadriplegia and decorticate posturing to mild dysarthria. The severity of sequelae was inversely related to age of the child at onset of the disease. Whereas those children developing the syndrome when they were less than 1 year of age were seriously impaired, 3 children developing it in late childhood sustained no sequelae. Biochemical and neurological status at disease onset did not predict neuropsychological outcome. The results parallel the pattern of sequelae for other encephalopathies and suggest the importance for both child and family of early developmental evaluation following recovery from the disease.","In blunt cerebrovascular injury, reported traumatic basilar artery occlusions have involved dissection of the basilar artery, distal embolization due to traumatic vertebral artery dissection, or entrapment of the basilar artery into the clivus fracture. To date, however, there are no reports of traumatic basilar artery entrapment without a clivus fracture. Here, we report the first case of traumatic basilar artery occlusion caused by entrapment into an originally existing bone defect. A 67-year-old man with a history of treatment for intracranial aneurysm suffered multiple traumatic injuries in a fall. On arrival at our hospital, he presented with neurogenic shock with quadriplegia. Computed tomography (CT) showed small epidural hematoma, C4-6 cervical spinous process fracture, and Th2-3 vertebral body fracture. CT angiography revealed occlusion of the basilar artery trunk. As vertebrobasilar artery dissections and clivus fracture were not observed; however, we could not elucidate the pathology of the basilar artery occlusion. On day 4, after surgery for the cervical and thoracic lesions, he exhibited consciousness disturbance. Diffusion-weighted imaging on day 5 showed hyperintensities in the brainstem and cerebellum. Basi-parallel anatomic scanning magnetic resonance imaging showed that the basilar artery, while lacking vascular wall injuries, was tethered into the clivus. Antithrombotic therapy was performed, but the patient progressed to a locked-in state. Previous head CT before the trauma revealed a bone defect already present in the clivus. We speculated basilar artery entrapment into this preexisting bone defect. We must look for basilar artery injury in trauma patients even in the absence of clivus fracture.",0
3,Quadriplegia,"Basilar artery occlusion occurred in a 13-year-old boy. Eighteen cases in children reported in the literature were also analyzed. Basilar artery occlusion is more common in males. The main clinical manifestations are disturbance in consciousness, hemiplegia or quadriplegia, and pupillary abnormalitites. The prognosis is better in children than in adults.","The aim of the study was to determine whether pediatric patients with cerebral palsy (CP; 24.3% hemiplegic, 30.4% diplegic, 38.5% quadriplegic) can self-report their health-related quality of life (HRQOL) with the Pediatric Quality of Life Inventory Version 4.0 (PedsQL 4.0) Generic Core Scales. The PedsQL was administered to 148 families (84 males, 64 females; mean 10y, SD 3y 9mo, range 5 to 18y) recruited from a children's hospital clinic and state medical therapy clinics. Sixty-nine children (47%) were able to self-report. Children with CP self-reported a significantly lower HRQOL (mean 65.9) than healthy children (mean 83.8). Children with CP self-reported a similar HRQOL to pediatric cancer patients receiving treatment (mean 68.9). Children diagnosed with quadriplegia (mean 49.4) self-reported more impaired HRQOL than children with diplegia (mean 69.1) and hemiplegia (mean 72.4). Parent-child concordance was lowest for emotional functioning. Providers and parents should obtain the children's HRQOL perceptions whenever possible.",0
4,Quadriplegia,"A sudden onset of quadriplegia and dyspnea occurred in a 4-year-old girl with Down's syndrome, who had been noted to have atlantoaxial dislocation. She underwent cervical immobilization initially with a halo-vest and subsequently by posterior fusion, resulting in significant functional recovery. The catastrophic myelopathy that occurred in this patient emphasizes the necessity of treatment even for asymptomatic atlantoaxial instability in some individuals with Down's syndrome.","Anemia is a frequently encountered problem in the healthcare system. Common causes of anemia include blood loss, followed by impaired red blood cell production and red blood cell destruction. This case demonstrates the need for cognizance of the less frequent causes of anemia. A 27-year-old male with a history of traumatic brain injury and quadriplegia with chronic respiratory failure on home ventilator support presented to the emergency department with dyspnea and no bowel movements for three days. The patient received nutrition via percutaneous endoscopic gastostromy (PEG) tube. He was hypotensive with a mean arterial pressure (MAP) of 54 mm/Hg. There was no evidence of acute or ongoing blood loss. Initial lab data revealed hyperkalemia (K+ 6.1), severe anemia (Hb 1.5 g/dL), leukopenia (2.53 K/uL), neutropenia (ANC 700), and normal platelets. Peripheral smear revealed leukopenia with absolute neutropenia, marked anemia with anisopoikilocytosis with rare dacrocytes but no evidence of schistocytes. He responded to transfusion with improvement in hemoglobin from 1.5 to 9.1 within 24 hours. There was no evidence of hemolysis or vitamin deficiency. Ferritin and triglyceride levels were ordered to rule out hemophagocytic lymphohistiocytosis (HLH). Ferritin was elevated at 6506 ng/mL and triglycerides were 123 mg/dL. Soluble IL-2 receptor level was sent and found to be significantly elevated; however, this was felt to be more likely secondary to infection and inflammation, as the patient had no other clinical features of HLH, apart from cytopenias. Zinc supplementation was part of his wound care regimen. Copper levels were <10 ug/dL (normal: 70-140). Zinc supplements were stopped, and the patient was started on copper supplementation. At his three month follow-up clinic appointment, his anemia and leukopenia had resolved. Micronutrient deficiency is a potential cause of anemia, especially in a risk population and must be considered, as it is often easily correctible.",0
5,Quadriplegia,"Many patients with ventilator-dependent quadriplegia have coincident phrenic nerve injury and therefore cannot be offered phrenic nerve pacing. The purpose of this study was to assess the utility of combined inspiratory intercostal and expiratory muscle pacing to provide complete ventilatory support. Studies were performed in 15 anesthetized dogs. An electrode was positioned on the epidural surface of the upper thoracic spinal cord to activate the inspiratory intercostal muscles; a separate electrode was positioned on the epidural surface of the lower thoracic spinal cord to activate the expiratory muscles. In an attempt to replicate the effects of inspiratory intercostal pacing alone in humans, stimulus parameters during upper thoracic spinal cord stimulation were adjusted to provide suboptimal levels of ventilation (end-tidal PCO2 of 55 to 60 mm Hg). Expiratory muscle activation was triggered electrically by the inspiratory signal with a 4.2-s delay resulting in alternate inspiratory and expiratory muscle pacing at a combined rate of 14 breaths/min. Combined pacing was maintained for an arbitrary period of 3 h. Initial intercostal muscle pacing alone resulted in an end-tidal PCO2 of 57.1 +/- 1.1 mm Hg. After the addition of expiratory muscle pacing, end-tidal PCO2 fell to 36.3 +/- 1.2 mm Hg. Tidal volume during both inspiratory and expiratory muscle pacing and end-tidal PCO2 remained stable throughout the study period. Our results suggest that combined alternate inspiratory and expiratory muscle pacing may be a viable alternative method of artificial ventilation in ventilator-dependent quadriplegic patients.","This study sought to assess comorbidity profiles unique to early-onset-scoliosis (EOS) patients by employing cluster analytics and to determine the influence of isolated comorbidity clusters on perioperative complications, morbidity and mortality using a high powered administrative database. The KID database was queried for ICD-9 codes pertaining to congenital and idiopathic scoliosis from 2003, 2006, 2009, 2012. Patients <10?Ży/o (EOS group) were included. Demographics, incidence and comorbidity profiles were assessed. Comorbidity profiles were stratified by body systems (neurological, musculoskeletal, pulmonary, cardiovascular, renal). K-means cluster and descriptive analyses elucidated incidence and comorbidity relationships between frequently co-occurring comorbidities. Binary logistic regression models determined predictors of perioperative complication development, mortality, and extended length-of-stay (??5th percentile). 25,747 patients were included (Age: 4.34, Female: 52.1%, CCI: 0.64). Incidence was 8.9 per 100,000 annual discharges. 55.2% presented with pulmonary comorbidities, 48.7% musculoskeletal, 43.8% neurological, 18.6% cardiovascular, and 11.9% renal; 38% had concurrent neurological and pulmonary. Top inter-bodysystem clusters: Pulmonary disease (17.2%) with epilepsy (17.8%), pulmonary failure (12.2%), restrictive lung disease (10.5%), or microcephaly and quadriplegia (2.1%). Musculoskeletal comorbidities (48.7%) with renal and cardiovascular comorbidities (8.2%, OR: 7.9 [6.6-9.4], p????.001). Top intra-bodysystem clusters: Epilepsy (11.7%) with quadriplegia (25.8%) or microcephaly (20.5%). Regression analysis determined neurological and pulmonary clusters to have a higher odds of perioperative complication development (OR: 1.28 [1.19-1.37], p????.001) and mortality (OR: 2.05 [1.65-2.54], p????.001). Musculoskeletal with cardiovascular and renal anomalies had higher odds of mortality (OR: 1.72 [1.28-2.29], p????.001) and extLOS (OR: 2.83 [2.48-3.22], p????.001). EOS patients with musculoskeletal conditions were 7.9x more likely to have concurrent cardiovascular and renal anomalies. Clustered neurologic and pulmonary anomalies increased mortality risk by as much as 105%. These relationships may benefit pre-operative risk assessment for concurrent anomalies and adverse outcomes. Level of Evidence: III - Retrospective Prognostic Study.",0
6,Quadriplegia,"A man developed severe spastic quadriplegia following a mixed drug overdose-induced coma. Diagnostic studies were consistent with hypoxic leukoencephalopathy. The patient made a dramatic functional recovery 3 1/2 months after admission, with Computed tomography scan and EEG findings returning to normal. The time course of recovery suggests that remyelination may have taken place. This case illustrates the importance of early and continued vigorous rehabilitation therapy for patients in whom late recovery from critical illness is possible.","Primary spinal glioblastoma multiforme is a rare and aggressive spinal tumor with dismal outcomes CASE DESCRIPTION: We have presented an unusual case-the first, to the best of our knowledge, to be reported-with intratumoral hemorrhage and sudden-onset quadriplegia in a patients with primary spinal glioblastoma multiforme. The patient underwent emergency surgical decompression. The patient died after a prolonged intensive care unit stay.",0
7,Quadriplegia,"Among 848 cases of profound mental retardation with motor disturbance admitted to Metropolitan Medical Center of Severely Handicapped in the last 20 years, 98 died. The 94 cases whose cause of death was determined were clinically investigated. There was no difference in sex, and 72% of the patients died before the age of 15 years. Half of the patients died of pneumonia; sudden death occurred in 9, and ileus in 8. These three were thought to be the most important and characteristic causes of death in severely handicapped patients. In recent years, deaths due to pneumonia have decreased and those due to ileus have disappeared, but deaths due to malignant neoplasm have begun to be recognized. There were also some deaths from intracranial hemorrhage in young children, and some deaths from tracheal bleeding in those who had tracheal tubes. These two were also important causes of death in the patients. Sudden death had certain characteristics: most cases were adolescent or young patients with mixed quadriplegia who were sensitive to environmental changes and often showed marked hypertonia by athetosis, and in addition, all of their acute changes occurred between 5 and 8 a.m. or between 6 and 9 p.m.",Guillain-Barre syndromé (GBS) is an autoimmune disorder. It is rare in pregnancy as there is a decrease in cell-mediated immunity. A case of 28-year-old pregnant woman who presented with acute flaccid quadriplegia suffering from GBS is discussed in this study. She was treated with plasma exchange in her immediate post-partum period. The management of GBS in pregnancy has been discussed. ,0
8,Quadriplegia,"Previous reports of catecholamine metabolism in spinal cord injury (SCI) have found elevated levels of urinary norepinephrine metabolites. These data have been cited as evidence of a sustained increase in peripheral norepinephrine activity in this population. A study was designed to test this hypothesis and to control for the effect of affective disorders on catecholamine metabolism. Determinations were made of the level of urinary 3-methoxy-4-hydroxyphenylethylglycol (MHPG) and vanillylmandelic acid (VMA) in 30 patients with SCI. Urinary MHPG and VMA were not significantly higher than normal in the total sample. However, in spastic quadriplegia, urinary MHPG was lower than normal, and a calculated VMA:MHPG ratio was higher than normal in complete quadriplegia and spastic quadriplegia. This high ratio was due primarily to decreased MHPG. The authors suggest that these changes are due to decreased norepinephrine turnover in the damaged SC and that a VMA:MHPG ratio is the most useful measure of norepinephrine activity in SCI.","The authors report a 24-year-old man who developed encephalopathy and rapid quadriplegia following ingestion of a solution containing diethylene glycol (DEG). As quadriparesis evolved, motor response amplitudes were markedly reduced with preserved conduction velocities. Studies during clinical recovery revealed marked motor conduction velocity slowing and prolonged distal latencies. These data indicate that DEG intoxication may cause a primary acute axonal sensorimotor polyneuropathy with demyelinating physiology during recovery.",0
9,Quadriplegia,"The acardius foetal malformation is a rare abnormality occurring in monozygotic multiple pregnancies. This is a case report of a pair of twins with the ""twin reversed arterial perfusion (TRAP)"" sequence and its complications. The recipient twin was born acardius acephalus. The pump twin had problems of prematurity, disseminated intravascular coagulation, sclerema and right ventricular hypertrophy. On follow-up at seven months he has failure to thrive, spastic quadriplegia and developmental delay. An awareness of the TRAP sequence may lead to better antenatal diagnosis and optimal management of the twin pregnancy.","A 74-year-old Chinese man with triple-vessel coronary artery disease, developed quadriplegia following coronary artery bypass graft surgery, secondary to cervical disc anterior herniation and a C5-6 to T1 acute spinal hematoma. Preoperatively, no neurological signs or symptoms had been reported.",0
0,Speech disorder,"Stuttering associated with neurological pathology in normal adult speakers is uncommon, has no consistent clinicopathological picture, and its significance is too easily dismissed. A case is reported showing that stuttering may be a presenting symptom of progressive neurological disease, and another case demonstrates that a speech disorder which is indistinguishable from common stuttering may follow cerebral follow injury in adulthood.",Multimodal treatment of oral cancer can cause speech disorders and diminish speech intelligibility. Speech intelligibility is an essential part of social interaction and therefore important for coping with the disease. The aim of this study was to investigate the influence of speech intelligibility on coping strategies and a standardized questionnaire.,0
1,Speech disorder,"Findings in a prior study series indicate that acoustic markers may have the requisite sensitivity and specificity to discriminate speakers with histories of several types of speech disorders, one of which is posited to be genetically inherited. The present study in this series compares acoustic data from three groups of adolescent speakers. Group 1 speakers had residual dentalized /s/ distortions in conversational speech and histories of significant age-inappropriate deletion and substitution errors. Group 2 speakers also had residual dentalized /s/ distortions in conversational speech, but their speech histories were limited to dentalized distortions of /s/ and other fricatives/affricates. Group 3 speakers had typical speech on assessment and no histories of speech errors. Owing to the limited number of perceptually dentalized /s/ tokens produced by Groups 1 and 2 speakers in a phrase-level speech task, acoustic analyses were completed on /s/ tokens transcribed as correct for speakers in all groups. Moments analyses of /s/ spectra in three words with /s/-initial clusters yielded statistically significant differences and consistent trends for mean spectral frequency and spectral variance for Group 1 compared with Group 2 speakers. These findings for perceptually normal /s/ tokens are interpreted as additional support for the potential of acoustic markers to discriminate speakers' speech-error histories. The discussion considers possible developmental and normalization correlates of the acoustic findings for speakers with each of the two types of speech-error histories studied in this paper.","  Speech impairments due to cerebral lesions and degenerative disorders can be
devastating. For humans with severe speech deficits, imagined speech in the
brain-computer interface has been a promising hope for reconstructing the
neural signals of speech production. However, studies in the EEG-based imagined
speech domain still have some limitations due to high variability in spatial
and temporal information and low signal-to-noise ratio. In this paper, we
investigated the neural signals for two groups of native speakers with two
tasks with different languages, English and Chinese. Our assumption was that
English, a non-tonal and phonogram-based language, would have spectral
differences in neural computation compared to Chinese, a tonal and
ideogram-based language. The results showed the significant difference in the
relative power spectral density between English and Chinese in specific
frequency band groups. Also, the spatial evaluation of Chinese native speakers
in the theta band was distinctive during the imagination task. Hence, this
paper would suggest the key spectral and spatial information of word
imagination with specialized language while decoding the neural signals of
speech.
",0
2,Speech disorder,"Congenital dysphasia is a developmental speech disorder not explained by deafness, phonation disorder, mental retardation, neurologic lesion, or psychiatric disease. The existence of brain lesions has often been postulated but conventional investigations fail to demonstrate any cerebral abnormality. By means of [99mTc]hexamethyl-propyleneamine oxime (HM-PAO) brain single photon emission computed tomography (SPECT) we have studied 14 children suffering from congenital dysphasia. The brain computed tomographic scan was normal in all cases. In two patients with expression impairment the SPECT study demonstrated a hypoperfusion in the inferior frontal convolution of the left hemisphere, involving the Broca's area. In nine of 12 patients with global dysphasia (deficits in both comprehension and expression), SPECT study showed two hypoperfused areas: an abnormality in the left temporoparietal region and a hypoactivity in the upper and middle areas of the right frontal lobe. These results suggest that congenital dysphasia could be due, like acquired aphasia, to specific impairment of the language cerebral areas and that brain SPECT studies with [99mTc]HM-PAO could be useful for a better comprehension of the physiopathology of these disorders.","Uvular necrosis after long-term endotracheal intubation has been previously reported, but there have been no reports regarding soft palate necrosis after endotracheal intubation. Recently, we encountered 2 patients who had a high degree of soft palate necrosis following endotracheal intubation during long-term care in the intensive care unit. This study reports noncongenital soft palate cleft caused by endotracheal intubation. Two patients, aged 30 and 38 years, with noncongenital cleft palate were treated with pharyngeal flap and/or palatoplasty at our institution from March 2011 to May 2013. Initially, the patients complained of acquired speech disorder and severe oronasal regurgitation caused by a palatal defect. Speech ability was evaluated preoperatively and postoperatively by a perceptual language test and nasopharyngoscopy. The cleft soft palates of both patients were completely repaired, and the aforementioned symptoms improved after surgery. Postoperative courses were uneventful in both of the cases, and neither patient experienced a recurrence. Although rare, long-term intensive care unit care with endotracheal intubation can cause noncongenital soft palate cleft. In cases with iatrogenic cleft palate that does not heal with conservative treatment, surgical procedures such as pharyngeal flap and palatoplasty can be helpful. ",0
3,Speech disorder,"The authors analyzed the long-term results of uni- and bilateral stereotaxic operations in 70 patients (38 males and 32 females) with idiopathic and postencephalitic parkinsonism aged 32 to 68 years at the time of examination. It was established that the effect of the first operation with regard to tremor and muscular rigidity did not depend on the side of surgical intervention. Noticeable difference was observed between the results of the first and the second operation in relation to their efficacy and sequel incidence. In cases of bilateral intervention, the second operation on the left hemisphere not infrequently caused persistent psychic and speech disorders as compared with operations on the right hemisphere. The longer the interval between operations and the younger the patients, the greater the possibility of compensation.","Language is a characteristic feature of human communication. Several familial language impairments have been identified, and candidate genes for language impairments already isolated. Studies comparing expression patterns of these genes in human brain are necessary to further understanding of these genes. However, it is difficult to examine gene expression in human brain. In this study, we used a non-human primate (common marmoset; Callithrix jacchus) as a biological model of the human brain to investigate expression patterns of human speech- and reading-related genes. Expression patterns of speech disorder- (FoxP2, FoxP1, CNTNAP2, and CMIP) and dyslexia- (ROBO1, DCDC2, and KIAA0319) related genes were analyzed. We found the genes displayed overlapping expression patterns in the ocular, auditory, and motor systems. Our results enhance understanding of the molecular mechanisms underlying language impairments. ",0
4,Speech disorder,Tongue dysfunctions are of etiologic significance for the development of malocclusions and speech disorders. Electromagnetic articulography is a means of recording orofacial movements. The aim of this study was therefore to analyze differences in the spatial and temporal sequence of swallowing movements under the influence of lip and tongue dysfunctions in order to develop new means of objectifying the diagnosis of such a dysfunction.,"Dysarthria is a speech disorder associated with impairments of intelligibility, smoothness, loudness, and clarity of articulations. Dysarthria involves disability of reproducing various physical, tonal, and sound features of speech sounds in oral speech; unintelligible and slurred articulation with swallowing of sounds is characteristic. Articulatory movements and speech are slow, patients complain to the sensations of a 'thick' tongue and 'porridge' in the mouth. Patients'phrases are constructed correctly, vocabulary is not affected, and the grammatical structure of words is preserved. Reading, writing, internal speech, and understanding of speech are unaffected. Several types of dysarthria have been described on the basis of the lesion locations. Dysarthria can be associated with lacunar syndromes as well. Mutism represents a condition when patient cannot speak and answer the questions, but remains conscious and is able to produce written speech.",0
5,Speech disorder,"We report data on feeding and speech disorders in 50 patients with velocardiofacial syndrome. In order to contribute to delineation of type and etiology of feeding and speech problems, we compared the clinical findings in these patients with the reports in literature.","The following report is a summary of the Special Panel Session, entitled, ""Driving Critical Initiatives in Motor Speech,"" that was conducted at the Conference on Motor Speech, March 2008, in Monterey California. Don Finan (Program Chair for Speech Motor Control) and Julie Liss (Program Chair for Motor Speech Disorders) invited four distinguished scientists (Drs. Gary Weismer, Steven Barlow, Anne Smith, and John Caviness) to share, briefly, their opinions and views on selected topics. This was followed by an hour-long general discussion session with conference attendees. This report contains an introductory statement followed by the panel members' own summaries of the opinions and ideas expressed in their talks. We then summarize the major topics that were considered during the discussion session. This summary reflects the biases and opinions of the participants, and is meant to serve as a thought-piece for the readership of JMSLP, rather than as a scientific report.",0
6,Speech disorder,"It is well known that the acquisition of consonants can be a more difficult developmental process than of vowels. In this study the authors describe a case of 'transitory developmental apraxia of speech' (TDAS) in which a French-speaking child, although he acquired the whole vowel system, showed a significant delay in consonant acquisition and usage. The results of systematic observations and assessments of general cognitive and specific language functioning cover a period of 4 years (age 3:8 to 7:1l), from first clinical assessment to evidence of a good academic achievement. It is argued that this case demonstrates an unusual example of TDAS. The language deficits observed could not be attributed to oromotor, neurological, cognitive or intellectual deficits. The findings here also raise crucial questions concerning the origins of such a speech disorder and why it is transient in nature.","  Parkinson's disease is a neurodegenerative disorder characterized by the
presence of different motor impairments. Information from speech, handwriting,
and gait signals have been considered to evaluate the neurological state of the
patients. On the other hand, user models based on Gaussian mixture models -
universal background models (GMM-UBM) and i-vectors are considered the
state-of-the-art in biometric applications like speaker verification because
they are able to model specific speaker traits. This study introduces the use
of GMM-UBM and i-vectors to evaluate the neurological state of Parkinson's
patients using information from speech, handwriting, and gait. The results show
the importance of different feature sets from each type of signal in the
assessment of the neurological state of the patients.
",-1
7,Speech disorder,To propose a classification of the different lingual frenulum and to relate them to speech disorders.,"  The rapid population aging has stimulated the development of assistive
devices that provide personalized medical support to the needies suffering from
various etiologies. One prominent clinical application is a computer-assisted
speech training system which enables personalized speech therapy to patients
impaired by communicative disorders in the patient's home environment. Such a
system relies on the robust automatic speech recognition (ASR) technology to be
able to provide accurate articulation feedback. With the long-term aim of
developing off-the-shelf ASR systems that can be incorporated in clinical
context without prior speaker information, we compare the ASR performance of
speaker-independent bottleneck and articulatory features on dysarthric speech
used in conjunction with dedicated neural network-based acoustic models that
have been shown to be robust against spectrotemporal deviations. We report ASR
performance of these systems on two dysarthric speech datasets of different
characteristics to quantify the achieved performance gains. Despite the
remaining performance gap between the dysarthric and normal speech, significant
improvements have been reported on both datasets using speaker-independent ASR
architectures.
",-1
8,Speech disorder,"In the normal brain as well as in Alzheimer's disease (AD), regional cerebral blood flow (CBF) is coupled to metabolic demand and, therefore, changes in CBF reflect variations in neuronal metabolism. The use of radionuclide techniques, such as positron emission tomography (PET) and single photon emission computed tomography (SPECT), provides an accurate assessment of regional functional activity, i.e., CBF and metabolism, and could be very helpful for the differential diagnosis of AD. This disease is characterized by a decrease in global CBF and metabolism. When found, a symmetric bi-parieto-temporal CBF reduction is highly diagnostic for AD, despite the fact that a similar CBF pattern could also be observed in other types of dementia. Many AD patients with parieto-temporal flow reduction also have a diffuse flow reduction in the frontal cortical areas, particularly in advanced stages of the disease. Lateral CBF asymmetry is also very frequent; speech disorders are highly characteristic of left-sided flow reduction, while visuospatial apraxia is dominating in the right-sided cases. In advanced and severe cases of AD, CBF and metabolism tend to be more uniformly reduced throughout the cortex, sparing only the primary visual and sensory-motor cortices. PET and SPECT measurement of brain perfusion and metabolism has added a new dimension to the knowledge of dementia disorders, with a better differential diagnosis between AD and other forms of dementia. The correlation with neuropsychological data has also given new insight into the disease.","We report on our remote speech therapy experience in post-stroke aphasia. The aim was to test the feasibility and utility of telerehabilitation to support future randomized controlled trials. Post-stroke aphasia is a common and disabling speech disorder, which significantly affects patients' and caregivers' health and quality of life. Due to COVID-19 pandemic, most of the conventional speech therapy approaches had to stop or ""switch"" into telerehabilitation procedures to ensure the safety of patients and operators but, concomitantly, the best rehabilitation level possible. Here, we planned a 5-month telespeech therapy programme, twice per week, of a patient with non-fluent aphasia following an intracerebral haemorrhage. Overall, treatment adherence based on the operator's assessments was high, and incomplete adherence for technical problems occurred very rarely. In line with the patient's feedback, acceptability was also positive, since he was constantly motivated during the sessions and the exercises performed autonomously, as confirmed by the speech therapist and caregiver, respectively. Moreover, despite the sequelae from the cerebrovascular event, evident in some writing tests due to the motor deficits in his right arm and the disadvantages typical of all telepractices, more relevant results were achieved during the telerehabilitation period compared to those of the ""face-to-face"" therapy before the COVID-19 outbreak. The telespeech therapy performed can be considered successful and the patient was able to return to work. Concluding, we support it as a feasible approach offering patients and their families the opportunity to continue the speech and language rehabilitation pathway, even at the time of pandemic.",0
9,Speech disorder,"Four liver transplant recipients treated with cyclosporine developed a reversible neurologic syndrome characterized by a speech disorder leading to mutism. This complication, previously reported in a few liver transplant recipients treated with the immunosuppressive drug FK506, had not been described with cyclosporine. Recognition of this syndrome should prompt withdrawal of the drug and avoidance of unnecessary diagnostic procedures.","This study tested a path model that examined the impact of contextual caregiving variables (i.e., severity of child's symptoms, caregiving demands, and perceived caregiving) and different forms of received romantic partner social support (i.e., emotional, esteem, network, tangible, and information) on depressive and somatic symptoms among parents with a child diagnosed with childhood apraxia of speech (CAS), a severe childhood speech disorder. In total, 169 parents of a child with CAS participated in this study. Results provide some support for one stress process model of caregiving, which further highlights the need to look at relational variables as mediators between contextual stressors and health outcomes in caregiving contexts. ",0
0,Language disorder,"Language, intelligence, academic achievement, and behavioral adjustment were assessed in a group of 20 adolescents originally studied 10 years earlier as preschoolers with language disorders. At follow-up, 20% had WISC-R IQ scores in the mentally deficient range and were being educated in EMR classrooms. Of the remaining 16, 11 (69%) had required special tutoring, grade retention, or LD class placement. The majority of non-EMR subjects continued to evidence persistent deficits in language and academic achievement and were rated by their parents as being less socially competent and having more behavioral problems than their peers. Of the initial preschool measures available, the Leiter was found to be the best single predictor of intelligence, language, class placement, and reading achievement in adolescence, although the NSST: Expressive subtest also was a strong predictor of adolescent language.","This study aims to show how language disorders in children affect language transmission and the mixedness experience in intercultural families. To this end, it adopts a qualitative method of study based on the administration of ad hoc interviews to intercultural couples who consulted our Child Neuropsychiatry Service because of language disorders in their children. One of the main consequences, when the child of an intercultural couple presents a language disorder and a diagnostic process has to be initiated, may be interruption of the transmission of the second language, especially if it is the mother's language. The decision to do this, which may be taken on the advice of teachers and health professionals, but also because the parents themselves often attribute their child's language disorder to his bilingual condition, affects not only the relationship between the mother and her child, but also processes in the construction of parenthood and in the structuring of the child's personality and the plurality of his affiliations. A clear understanding of how the dialectic between the categories of ""alien"" and ""familiar"" is managed in these contemporary families, which have to reckon with the condition of otherness, is crucial for psychiatrists and psychotherapists working in settings in which cultural difference is an issue to consider. ",0
1,Language disorder,"Sixty-three language-disordered children first evaluated in their preschool years were followed four to five years after initial diagnosis. At follow-up approximately 40% of these children continued to present speech and language problems and approximately 40% presented other learning problems. Preschool levels of language comprehension, formulation, semantics, syntax, phonology, and speech production were found to be moderately correlated to subsequent class placement in the elementary grades. Duration of preschool therapy was not related to either the severity of preschool language disorder or to any subsequent speech, language, or academic abilities. Duration of school therapy was related to severity of phonologic deficit as rated during the preschool years and to all follow-up ratings for speech, language, and academic abilities.","High order abstract reasoning is impaired in patients suffering from mental disorders especially from schizophrenia. Thought and language disorders typical of schizophrenia are presumably connected with the aberrant ability to filter out irrelevant associations. We hypothesized that EEG biomarkers in healthy population could be detected, extracted and validated with regard to the ability to abstract a general principle underlying presented words while ignoring irrelevant associations and retaining only relevant ones. We developed three models of abstract reasoning: a direct generalization presented by nouns from the same semantic category, a latent association based on a loose relation between the presented words, and no associations introduced by non-related words. In the present EEG study 17 healthy participants solved tasks trying to figure out a general principle in a group of words. Subsequently, we carried out a functional connectivity analysis in order to restore synchronous neuronal interactions in the theta-alpha frequency range. We used the obtained spatial patters restored individually and relevant phase locking values (PLVs) as features for the Support Vector Machine classifier with Gaussian kernel. The accuracy rating validated on an independent sample made up 62.5% which is a promising result if inter-subject variability in cognitive processing is taken into account. Being validated on the same sample, the accuracy reached 82%. The results indicate that spatial patterns of functional connectivity and PLVs can be used as predictors of types of abstract reasoning.",0
2,Language disorder,"Numerous adolescents are still undetected, unserved, and underserved by speech-language pathologists, resulting in astronomical financial and psychological costs to them and society. The purpose of this article is to provide an overview of past and present service delivery options for adolescents with language disorders. Before illustrating the authors' recommended model, the following background is provided: an overview of the three stages of adolescent development, characteristic expectations and problems for older students with language disorders, and a rationale for adolescent speech-language services. The comprehensive service delivery model for secondary-level speech-language students, designed and reported by the authors, consists of six components: information dissemination, identification, assessment, program planning, intervention, and follow-up. Some of the unique features of the comprehensive model are presenting services as a course for credit, providing grades, and using supportive course titles such as Individualized Communication Class.","  Due to the worldwide accessibility to the Internet along with the continuous
advances in mobile technologies, physical and digital worlds have become
completely blended, and the proliferation of social media platforms has taken a
leading role over this evolution. In this paper, we undertake a thorough
analysis towards better visualising and understanding the factors that
characterise and differentiate social media users affected by mental disorders.
We perform different experiments studying multiple dimensions of language,
including vocabulary uniqueness, word usage, linguistic style, psychometric
attributes, emotions' co-occurrence patterns, and online behavioural traits,
including social engagement and posting trends. Our findings reveal significant
differences on the use of function words, such as adverbs and verb tense, and
topic-specific vocabulary, such as biological processes. As for emotional
expression, we observe that affected users tend to share emotions more
regularly than control individuals on average. Overall, the monthly posting
variance of the affected groups is higher than the control groups. Moreover, we
found evidence suggesting that language use on micro-blogging platforms is less
distinguishable for users who have a mental disorder than other less
restrictive platforms. In particular, we observe on Twitter less quantifiable
differences between affected and control groups compared to Reddit.
",-1
3,Language disorder,"Two young adult dizygotic twins with high schooling suffered two strokes at the ages of 26 and 30 years. On the first occasion, Case 2 suffered a stroke only a few months after Case 1; on the second occasion, Case 1 suffered a second stroke a few months after Case 2. In Case 1, lesions were mainly localized to the left cerebellar hemisphere in both stroke episodes. Case 2 suffered lesions localized to the right cerebellar hemisphere in the first stroke episode, and multiple lesions in both cerebellar hemispheres and the vermis, right pons and left thalamus during the second stroke episode. Seven years after the second stroke, despite full recovery of motor functions, the patients still show mild, yet selective, linguistic deficits (syntactic comprehension deficits, mild agrammatism, reading and writing disorders) without speech disturbances. They also present with selective dysfunctions in visuospatial short-term memory. Language disorders are ascribed to a dysfunction of the cerebellum in Case 1, while in Case 2 a dysfunction of the cerebellum and the thalamus is considered as both structures are part of the so-called 'frontal lobe system', which supports language generation. Visuospatial short-term memory disorders are attributed to an impaired ability to appreciate the organizing structure of the visual task and to poor planning strategies, which are in turn ascribed to cerebellar lesions. The role of the cerebellum in cognitive and linguistic functions is discussed.","Most speech-language pathologists (SLPs) working with children with developmental language disorder (DLD) do not perform language sample analysis (LSA) on a regular basis, although they do regard LSA as highly informative for goal setting and evaluating grammatical therapy. The primary aim of this study was to identify facilitators, barriers, and needs related to performing LSA by Dutch SLPs working with children with DLD. The secondary aim was to investigate whether a training would change the actual performance of LSA.",0
4,Language disorder,"A 3-year-old, right-handed girl developed a conduction-type aphasia following a second generalized seizure in the setting of a developing abscess involving left subcortical and cortical angular gyrus and arcuate fasciculus, and the posterior corpus callosum. The language disorder was fluent, characterized by age appropriate mean length of utterance and syntax, but with markedly reduced spontaneity of output, rapid rate of speech and mild dysarthria. Comprehension was relatively, but not completely spared. Naming, repetition, and reading (letters) were initially markedly impaired. Improvements in naming and repetition were associated with both literal and semantic paraphasias. Writing skills in the form of drawing were spared, but a mild apraxia to verbal command and imitation was initially present. Despite her young age, this child's fluent conduction aphasia and lesion localization were adult-like. Multimodal memory difficulties appeared to underlie what is best described as conduction aphasia.","Patients with Parkinson's disease (PD) encounter a variety of speech-related problems, including dysarthria and language disorders. To elucidate the pathophysiological mechanisms for linguistic alteration in PD, we compared the utterance of patients and that of healthy controls (HC) using automated morphological analysis tools.",1
5,Language disorder,"Language samples from matched groups of 80 autistic, mentally handicapped, and normally developing children were coded for the presence of neologisms and/or idiosyncratic language use. Cognitive, social, or linguistic factors that might account for these errors were identified and assessed. More autistic subjects used neologisms and idiosyncratic language than age- and language skill-matched control groups. No single factor or combination of factors was responsible for this difference. Across diagnostic groups, similar patterns of error were noted, except that the autistic subjects were more likely to use words inappropriately that had no phonological or semantic similarity to the intended English word. For the autistic groups, the frequency of idiosyncratic language increased with language complexity. In contrast, such errors decreased with language skill in the mentally handicapped group. Theoretical implications for determining the nature and source of the language disorder associated with autism are discussed.","Cortical auditory evoked potentials (CAEP) throughout a language task is beneficial during psychophysiological evaluation to advance identification of language disorders. So as to better comprehend human communication and to provide additional elements for neuropsychological examinations we aimed to (1) examine the influence of language tasks on cortical auditory processing and vagal control of heart rate and (2) to verify a possible association between the parasympathetic cardiac regulation and cortical auditory processing in language tasks. This study was completed with 49 women. The subjects were separated into two groups: (1) phonological language tasks (N????1) and (2) semantic (N????1) language tasks. Heart rate variability (HRV) and CAEP were evaluated before and after the tests. HRV reduced (small effect size) and P3 wave latency increased after the phonological task. Identical variables were significantly correlated after the phonological task and linear regression indicated significant interaction between pNN50 (percentage of adjacent RR intervals with a difference of duration greater than 50 milliseconds) and P3 latency (16.9%). In conclusion, phonological language tasks slightly reduced parasympathetic control of HR and increased cognitive effort. The association between HRV and CAEP are anticipated to be involved in this mechanism.",0
6,Language disorder,"Text processing requires inferences for establishing coherence between successive sentences. In neuropsychological studies and brain imaging studies, these coherence-building processes have been ascribed to the right hemisphere. On the other hand, there is evidence for prefrontal brain damage causing non-aphasic language disorders, in which text level processes are impaired. In this study, we used an event-related, whole-head fMRI methodology to evaluate the contributions of prefrontal areas and the right hemisphere to coherence building. We scanned 12 participants while they read 120 sentence pairs and judged their coherence. Four conditions were used, resulting from crossing coherence and cohesion (i.e. the presence of a lexical connection). A behavioral pretest confirmed that cohesion aided establishing coherence, whereas it hindered the detection of coherence breaks. In the fMRI study, all language conditions yielded activation in left frontolateral and temporolateral regions, when compared to a physical control task. The differences due to coherence of the sentence pairs were most evident in larger activation for coherent as compared to incoherent sentence pairs in the left frontomedian wall, but also in posterior cingulate and precuneal regions. Finally, a left inferior prefrontal area was sensitive to the difficulty of the task, and in particular to the increase in processing costs when cohesion falsely indicated coherence. These results could not provide evidence for a special involvement of the right hemisphere during inferencing. Rather, they suggest that the left frontomedian cortex plays an important role in coherence building.","Developmental language disorder (DLD) has clear functional ramifications in the areas of social competency, emotion recognition, emotional well-being and literacy skill, which have been found to persist from childhood to adolescence. These domains are important factors during the transition from primary to secondary school in typical development (TD). Nevertheless, there is a paucity of research on the transition from primary to secondary school for adolescents with DLD and low language (LL) ability.",0
7,Language disorder,"The types of mental disorders and their prevalence in severely dysfunctional (SD) and well-functioning (WF) families were compared. SD families were characterized by chronic conflicts, absence of closeness and lack of trust between parents, and bad relations and lack of support between parents and their children. WF families were characterized by high levels of psychological intimacy, warm and satisfying relationships between parents and children, and a warm, affectionate, optimistic family mood. 23 SD families (44 parents and 60 children) and 61 WF families (121 parents and 184 children) were followed for over 4 years by the author of this study. There was a high prevalence of mental disorders in parents of SD families in comparison to the WF families (43.2% vs 6.6%). This excess was significantly less in men (p = 0.05), in whom the risk ratio was 3.3 (p = 0.03), while for women it was 10.2 (p less than 0.0001). Most prominent was the higher prevalence of chronic anxiety: 25% vs 5% with a risk ratio for men of 2.9 (p = 0.09), and for women 7.1 (p less than 0.0001). Among children as well, there was greater prevalence of psychiatric illness in SD families--56.6% vs 3.8%, risk ratio 14.9 (p less than 0.0001). The prevalence of developmental speech and language disorders in SD families was 33.2 times greater, of hyperkinetic syndrome 12.3 times, and of enuresis 7.2 times. In contrast to the parents, the overall rate of illness was not significantly different between the sexes. We feel that it is important to discover such families because treatment and intervention early in childhood may increase the effectiveness of treatment.","Fourty eight, XXXX is a rare chromosomal aneuploidy associated with neurocognitive deficits, speech and language disorders and executive dysfunction but the scarcity and variability of reported cases limit our understanding of the 48, XXXX phenotype. To our knowledge, this is the first study to report on the neurodevelopmental profile of three young females with 48, XXXX. Patient 1 (age = 11.0), Patient 2 (age = 10.9), and Patient 3 (age = 6.4) were evaluated using comprehensive neurodevelopmental assessments. Parent questionnaires were completed to assess behavioral and psychosocial domains including executive function, ADHD and anxiety. Nonverbal intelligence quotients were 56, 80, and 91 for Patients 1, 2, and 3, respectively. There were significantly impaired visual motor capacities in graphomotor and perceptual domains below the 5th centile in Patients 1 and 2, and mildly impaired visual perception skills in Patient 3. All three patients had Childhood Apraxia of Speech (CAS) but of varying severity and similar executive dysfunction, externalizing problems and social difficulties. Familial learning disabilities (FLD) in Patient 1 and the co-occurrence of ADHD in Patient's 1 and 2 may contribute to their more impaired cognitive performances relative to Patient 3 who is the second reported case of 48, XXXX to have normal intellect. These distinct and overlapping characteristics expand the phenotypic profile of 48, XXXX and may be used in the counseling of families and treatment of children with 48, XXXX.",0
8,Language disorder,"The pediatric otolaryngologist cares for children who have abnormal language as a primary or secondary deficiency. Five children, each with a different form of language disorder, are presented. These are children with specific language impairment (SLI) expressive, pervasive developmental delay (autism), expressive language delay associated with severe to profound hearing loss early in life, language delay secondary to a moderate to severe hearing loss diagnosed late and not cared for, and language delay secondary delay secondary to social deprivation and otitis media with effusion.","Recent studies of the experiences of caregivers of children with language disorders have suggested that speech-language pathologists (SLPs) are not clearly and effectively providing caregivers with a comprehensible diagnostic term for their child's difficulties. Since the work of the CATALISE consortium, there has been a mounting consensus around the use of the term ",0
9,Language disorder,"The ability to process two or more rapidly presented, successive, auditory stimuli is believed to underlie successful language acquisition. Likewise, deficits in rapid auditory processing of both verbal and nonverbal stimuli are characteristic of individuals with developmental language disorders such as Specific Language Impairment. Auditory processing abilities are well developed in infancy, and thus such deficits should be detectable in infants. In the studies presented here, converging methodologies are used to examine such abilities in infants with and without a family history of language disorder. Behavioral measures, including assessments of infant information processing, and an EEG/event-related potential (ERP) paradigm are used concurrently. Results suggest that rapid auditory processing skills differ as a function of family history and are predictive of later language outcome. Further, these paradigms may prove to be sensitive tools for identifying children with poor processing skills in infancy and thus at a higher risk for developing a language disorder.","Children with autism spectrum disorders (ASD) usually experience difficulty regarding symbolic play. However, studies on whether symbolic play test (SPT) can differentiate between ASD and other developmental disorders are inconsistent, and evaluating the application value of the SPT in the identification of ASD without global developmental delay (GDD) and developmental language disorder (DLD) is necessary.",0
0,Blindness,"Prevention of visual impairment and blindness in childhood due to congenital and infantile cataract is an important international goal. Preventive strategies require information about etiology that is currently unavailable for many regions of the world. From a national epidemiologic study, the underlying or associated factors in newly diagnosed cases of congenital or infantile cataract in the United Kingdom are reported, and the implications for future etiological research are discussed.","Untreated or undertreated diabetes can cause debilitating complications such as blindness and amputations. Information about the factors associated with diagnosed but untreated diabetes may help target efforts to promote appropriate treatment. Using the Medical Expenditure Panel Survey, we examine: (1) use of insulin or oral medications, (2) use of diet only, and (3) no treatment. We analyze covariates of this trichotomous outcome using multinomial logit regression. Among adults diagnosed with diabetes, 87.0% used oral medications or insulin, 10.6% used diet only, and 2.4% were untreated. Lacking a usual source of care, poor mental health, being single, and being an Asian/Pacific Islander are associated with lack of treatment. Better health, lacking a usual source of care, and attitudes against medical care are associated with using diet only. Adults with diagnosed but untreated or undertreated diabetes may be difficult for service providers to reach, and multiple strategies are needed to initiate treatment.",0
1,Blindness,"Blindness due to trachoma is a serious public health issue world wide. The currently recommended treatment of active trachoma with repeated doses of tetracycline eye ointment has many disadvantages. The new azalide antibiotic azithromycin is effective as a single oral dose in the chemotherapy of genital Chlamydia trachomatis infections, and we have assessed its efficacy for trachoma treatment. We carried out a randomised single-blind comparison of azithromycin (a single oral dose of 20 mg/kg) with conventional treatment (6 weeks of topical tetracycline plus erythromycin for severe cases) in two villages with endemic trachoma in The Gambia. The patients were followed up for 26 weeks from the start of treatment by an observer unaware of treatment allocation. By 6 months' follow-up, trachoma had resolved in 76 (78%) of 97 subjects who received azithromycin compared with 70 (72%) of 97 who were treated conventionally (95% CI for difference -6% to 18%). Compliance with both treatments was good, but that for conventional treatment could probably not be achieved outside the research setting. There were no significant differences in treatment effect, baseline characteristics, or re-emergent disease between the treatment groups. Azithromycin was well tolerated. As a systemic treatment effective in a single dose it has important potential for trachoma control.","Retinal degeneration (RD) in the Miniature Long Haired Dachshund (MLHD) is a cone-rod dystrophy resulting in eventual blindness in affected individuals. In a previous study, a 44-nucleotide insertion (ins44) in exon 2 of RPGRIP1 was associated with RD. However, results on an extended population of MLHD revealed a variable RD onset age for ins44 homozygous dogs. Further investigations using a genome-wide association study comparing early onset and late onset RD cases identified an age of onset modifying locus for RD, approximately 30 Mb upstream of RPGRIP1 on chr15. In this investigation, target enriched sequencing identified a MAP9 deletion spanning approximately 22 kb associated with early RD onset. Identification of the deletion required correction to the CanFam3.1 genome build as canine MAP9 is part of a historic tandem duplication, resulting in incomplete assembly of this genome region. The deletion breakpoints were identified in MAP9 intron 10 and in a downstream partial MAP9 pseudogene. The fusion of these two genes, which we have called MAP9 EORD (microtubule-associated protein, early onset retinal degeneration), is in frame and is expressed at the RNA level, with the 3' region containing several predicted deleterious variants. We speculate that MAP9 associates with α-tubulin in the basal body of the cilium. RPGRIP1 is also known to locate to the cilium, where it is closely associated with RPGR. RPGRIP1 mutations also cause redistribution of α-tubulin away from the ciliary region in photoreceptors. Hence, a MAP9 partial deficit is a particularly attractive candidate to synergise with a partial RPGRIP1 deficit to cause a more serious disease.",0
2,Blindness,"The rd (retinal degenerate) strain of chicken is an example of a recessively inherited mutation characterized by blindness at the time of hatching, as defined by behavioral and electrophysiological tests. Paradoxically, blind mutants have normal retinal morphology, even at the ultrastructural level. Eventually, however, the entire retina degenerates in this strain, perhaps as a result of disuse atrophy. Results of preliminary studies imply that a defect in the visual transduction cascade in photoreceptor cells is responsible for the lack of vision. As well as being an important animal model for studies on photochemistry and transduction, the rd chicken may afford a paradigm for studies on inner retinal physiology and pathology, as electrical input to this inner neuronal system appears to be absent. In the current study we examined axonal transport (both retrograde and anterograde) in rd retinal ganglion cells and connectivity of ganglion cells to visual centers in the brain and compared these to normally sighted chicks. All visuorecipient nuclei were present in rd animals and appeared normal at the light microscopic level. When 3H-proline was injected into one eye of a blind chicken on the day of hatching, labeled polypeptides or proteins were transported via a fast transport mechanism to the same visual centers in roughly the same quantities as in normally sighted chicks. When horseradish peroxidase (HRP) was injected in the optic tectum of blind and normal 1 day old chicks, this label was transported retrogradely to the soma of retinal ganglion cells.(ABSTRACT TRUNCATED AT 250 WORDS)",Extremely preterm infants are at risk of developing retinopathy of prematurity (ROP) that can cause impaired vision or blindness. Changes in blood lipids have been associated with ROP. This study aimed to monitor longitudinal changes in the serum sphingolipidome of extremely preterm infants and investigate the relationship to development of severe ROP.,0
3,Blindness,"Diabetes mellitus is one of the non-communicable diseases that has accompanied Aboriginal exposure to Western life style. The prevalence of diabetes mellitus is higher in the Aboriginal population than in non-Aboriginal Australians (Holding, 1985) and many Aboriginals who have diabetes mellitus develop diabetic retinopathy. Early detection facilitates treatment and prevention of blindness, a sequela of diabetic retinopathy. This paper describes the use of technology assessment as a framework for comparing two diagnostic technologies, fundal camera and ophthalmoscope, for use with Aboriginal people in central Australia.","Diabetic retinopathy (DR), one of the most common complications of diabetes, is the leading cause of legal blindness among adults of working age in developed countries. After 20 years of diabetes, almost all patients suffering from type I diabetes mellitus and about 60% of type II diabetics have DR. Several studies have tried to identify drugs and therapies to treat DR though little attention has been given to flavonoids, one type of polyphenols, which can be found in high levels mainly in fruits and vegetables, but also in other foods such as grains, cocoa, green tea or even in red wine. Flavonoids have anti-inflammatory, antioxidant and antiviral effects. Since it is known that diabetes induces oxidative stress and inflammation in the retina leading to neuronal death in the early stages of the disease, the use of these compounds can prove to be beneficial in the prevention or treatment of DR. In this review, we summarize the molecular and cellular effects of flavonoids in the diabetic retina.",1
4,Blindness,"A patient is described who, following a post-eclamptic intravascular disseminated coagulation, had a bilateral stroke in the territories supplied by the posterior cerebral arteries. She showed an anosognosia of her cortical blindness associated with a severe recent memory loss.","  Recently, the area of adversarial attacks on image quality metrics has begun
to be explored, whereas the area of defences remains under-researched. In this
study, we aim to cover that case and check the transferability of adversarial
purification defences from image classifiers to IQA methods. In this paper, we
apply several widespread attacks on IQA models and examine the success of the
defences against them. The purification methodologies covered different
preprocessing techniques, including geometrical transformations, compression,
denoising, and modern neural network-based methods. Also, we address the
challenge of assessing the efficacy of a defensive methodology by proposing
ways to estimate output visual quality and the success of neutralizing attacks.
Defences were tested against attack on three IQA metrics -- Linearity, MetaIQA
and SPAQ. The code for attacks and defences is available at: (link is hidden
for a blind review).
",-1
5,Blindness,A 60-year-old woman presented with a dural caroticocavernous fistula (CCF) in whom both by ophthalmic arteries arose from the middle meningeal arteries instead of from the internal carotid arteries. Transarterial embolisation of the CCF was contraindicated because of the risk of blindness. Transvenous coil embolisation was therefore performed. Bilateral origin of the ophthalmic artery from the middle meningeal artery is extremely rare.,"Mucous membrane pemphigoid (MMP) is a subtype of autoimmune subepidermal blistering diseases characterized by autoantibodies to structural components of the hemidesmosome primarily affecting mucous membranes. Inflammation-related progressive scarring can lead to serious complications, including blindness, and the disease may be associated with malignancy. Conventional immunosuppressive treatment is often insufficiently effective and limited due to side effects, warranting new therapeutic options ideally targeting both inflammation and extensively recalcitrant cicatrization. Heat shock protein 90 (Hsp90) is a cell stress-inducible chaperone required for the function of a large number of client proteins, and its pharmacological inhibition has proven to be effective and relatively safe in patients with cancer. Recent observations also suggest a promising role of Hsp90 as drug target in preclinical in vivo murine models of autoimmune diseases such as subepidermal bullous and fibrotic autoimmune disorders comprising epidermolysis bullosa acquisita and systemic sclerosis, respectively, which exhibit some pathophysiological features reminiscent of MMP. This article thus hypothesizes that Hsp90 blockade could represent a double-edged sword in MMP treatment by targeting pathogenic factors of inflammatory blister and fibrosis formation. Moreover, Hsp90 inhibitors could even be proclaimed as a triple-edged sword in case of an underlying malignancy. Future studies investigating the role of Hsp90 in MMP are needed to clarify whether Hsp90 inhibition could become a novel treatment approach for patients with this potentially devastating disease. ",1
6,Blindness,"The saccharin and aspirin tasting abilities have been detected and analyzed in 710 individuals (328men, 382women) of Xinjiang Mongol. It is showed that the saccharin taste-blindness ratio among Mongolians was 4.648%,frequency of the recessive gene determining taste-blindness and the dominant gene determining taste ability was 0.2156, and 0.7844 respectively,and its mean testable threshold was 8.00+/-1.34 (0.108mol/L). Distribution of aspirin tasting threshold appeared a distinct curve with double peaks and single bottom,and demonstrated the aspirin tasting ability was a monogenic character. Solution NO.7 (3.00x10(-4)mol/L) at the bottom in the curve was the boundary of taste-blindness. The peak of taste-blindness was at the solution NO.1 (1.7x10(-2)mol/L), and the peak of tasters was at the solution NO.11 (1.25x10(-5)mol/L), The ratio of aspirin taste-blindness was 90.28%. The chi2 test has been used to evaluate the statistical difference in aspirin taste-blindness ratio between male and female, the result showed that there was no significant difference (P>0.90), and the gene determining for aspirin tasting ability located on autosomes.","This review aims to summarize existing information concerning visual disturbances in (pre) eclampsia that have been described in the literature. Preeclampsia is one of the leading causes of maternal and fetal morbidity and mortality worldwide. Visual disturbances in (pre)eclampsia seem to be frequent phenomena. Therefore, the obstetrician/gynecologist may encounter women with serious, and sometimes debilitating, pathology of the visual pathways. Established ophthalmic entities associated with (pre)eclampsia are cortical blindness, serous retinal detachment, Purtscher-like retinopathy, central retinal vein occlusions, and retinal or vitreous hemorrhages. Ensuing visual symptoms include blurry vision, diplopia, amaurosis fugax, photopsia, and scotomata, including homonymous hemianopsia. In general, aside from lowering the blood pressure and preventing (further) seizures with magnesium sulfate, no specific therapy seems indicated for (pre)eclamptic women who experience visual changes. Although in most cases visual acuity returns to normal within weeks to months after the onset of symptoms, rarely permanent visual impairment can occur. Health care providers such as emergency room physicians, obstetricians, family physicians, neurologists, and ophthalmologists should be aware that acute onset of visual symptoms in pregnant women can be the first sign of (pre)eclampsia. Given that visual changes are a diagnostic criterion for severe preeclampsia, obstetricians should appreciate the significance of these changes and discuss appropriate diagnostic options with the ophthalmologist. Affected women can be reassured that most cases are transient.",1
7,Blindness,"Behçet disease is a systemic disease of young adults characterized by venous occlusion in both the deep venous and retinal circulations. In severe ocular disease, blindness may occur despite immunosuppressive treatment. The most common inherited risk factor for the development of idiopathic venous thrombosis is the presence of the Factor V (FV Leiden) mutation, which confers resistance to activated protein C. The association of FV Leiden with Behçet disease has been reported, but its influence on ocular disease is not known. We therefore investigated the prevalence of this mutation in patients with Behçet disease to determine its contribution to the presence and severity of ocular disease.","The Golden Retriever Lifetime Study (GRLS) is the first prospective longitudinal study attempted in veterinary medicine to identify the major dietary, genetic and environmental risk factors for cancer and other important diseases in dogs. The GRLS is an observational study that will follow a cohort of 3000 purebred Golden Retrievers throughout their lives via annual online questionnaires from the dog owner and annual physical examinations and collection of biological samples by the primary care veterinarian. The field of comparative medicine investigating naturally occurring disorders in pets is specifically relevant to the many diseases that have a genetic basis for disease in both animals and humans, including cancer, blindness, metabolic and behavioural disorders and some neurodegenerative disorders. The opportunity for the GRLS to provide high-quality data for translational comparative medical initiatives in several disease categories is great. In particular, the opportunity to develop a lifetime dataset of lifestyle and activity, environmental exposure and diet history combined with simultaneous annual biological sample sets and detailed health outcomes will provide disease incidence data for this cohort of geographically dispersed dogs and associations with a wide variety of potential risk factors. The GRLS will provide a lifetime historical context, repeated biological sample sets and outcomes necessary to interrogate complex associations between genes and environmental influences and cancer. ",0
8,Blindness,"Senile cataract is a non-preventable disease of aging, having its biggest impact in the over-60 age group. Published clinic and hospital data, population-based surveys and World Health Organization estimates indicate that 1.2% of the entire population of Africa is blind, and that cataract causes 36% of this blindness. Ocular disease and ophthalmic manpower status questionnaires mailed to every African country in 1982 by the International Eye Foundation support these contentions, and further demonstrate that cataract is the biggest single cause of blindness on the continent. Taking the population of Africa as a whole, this means that 6,000,000 people are blind, and that 2,000,000 of them are blind due to cataract. As this form of blindness is so closely related to aging, an estimate of the annual incidence of the condition can be made. One method is to use the formula I = P/D, where I = annual incidence, P = overall prevalence and D = duration of the condition. A 5-year survival has come to be a commonly used estimate in developing world epidemiology for the longevity of a person who becomes blind due to senile onset cataracts. In Africa then, I = P/D = 2,000,000/5 = 400,000 people blinded annually by cataract. An alternate method for this computation is to multiply the number of people entering the 60 and above age group annually by 0.08. This factor is derived from knowing the prevalence of cataract blindness in this age group, the life expectancy on becoming 60, and the number of people turning 60 annually. This gives an annual incidence of 160,000 and would signify that the development of cataract blindness does not reduce longevity. Follow-up prevalence surveys in the same population group will tell us which method (if either) is correct. The average number of cataract operations done annually by each ophthalmologist in Africa is surprisingly low, 120. The two most cost-effective ways of raising the number of cases done are: (1) shorten the average hospital stay, and (2) train more ophthalmic clinical officers to perform cataract surgery.","Achromatopsia is a rare autosomal recessive disorder which shows color blindness, severely impaired visual acuity, and extreme sensitivity to bright light. Mutations in the alpha subunits of the cone cyclic nucleotide-gated channels (CNGA3) are responsible for about 1/4 of achromatopsia in the U.S. and Europe. Here, we test whether gene replacement therapy using an AAV5 vector could restore cone-mediated function and arrest cone degeneration in the cpfl5 mouse, a naturally occurring mouse model of achromatopsia with a CNGA3 mutation. We show that gene therapy leads to significant rescue of cone-mediated ERGs, normal visual acuities and contrast sensitivities. Normal expression and outer segment localization of both M- and S-opsins were maintained in treated retinas. The therapeutic effect of treatment lasted for at least 5 months post-injection. This study is the first demonstration of substantial, relatively long-term restoration of cone-mediated light responsiveness and visual behavior in a naturally occurring mouse model of CNGA3 achromatopsia. The results provide the foundation for development of an AAV5-based gene therapy trial for human CNGA3 achromatopsia.",1
9,Blindness,"The concept of ""eye camp"" represents a revolutionary approach to the massive problem of cataract-related blindness and visual disability. The ""eye camp"" involves comprehensive cooperative relief efforts on a large scale to combat the widespread incidence of cataract as it affects residents of rural areas, especially in developing nations. We worked in an eye camp in Johilpatti, India, in the rural province of Tamil Nadu. On this site, 216 cataract operations were performed in one morning by 8 doctors and 16 nurses. In this province alone, an estimated 700,000 persons have cataract requiring operation. However, presently existing facilities are equipped to handle a maximum of only 20,000 cases annually. But from June 1972 to June 1973, approximately 50,000 cataract operations were performed in the eye camps. Evidently, the eye camp idea has great potential to significantly reduce the incidence of untreated cataract in rural areas where there are chronic shortages of treatment facilities and medical personnel.","  Cosmological black holes (CBH), i.e. black holes with masses larger than
$10^{14} solar masses, have been proposed as possible progenitors of galaxy
voids (Stornaiolo 2002). The presence of a CBH in the central regions of a void
should induce significant gravitational lensing effects and in this paper we
discuss such gravitational signatures using simulated data. These signatures
may be summarized as follows: i) a blind spot in the projected position of the
CBH where no objects can be detected; ii) an excess of faint secondary images;
iii) an excess of double images having a characteristic angular separation. All
these signatures are shown to be detectable in future deep surveys.
",-1
0,Astigmatism,"To clarify the mechanisms by which incisions and sutures produce corneal astigmatism, we made incisions and wedge resections closed by sutures in the corneoscleral limbus of human eye bank eyes, studying the changes in corneal curvature by shadowgraph photography of the corneal contour, by central keratometry, and by measurement of corneal diameter. The compression of tissue within the sutures or the closure of an excision of a wedge of tissue by sutures induced astigmatism in the meridian of surgery regardless of changes in the sagittal depth of the anterior chamber. Sutures and wedge resections closed by sutures in the anterior part of the cornea compressed or removed more tissue from the anterior part than the posterior part, producing a depression of the limbal cornea toward the anterior chamber and steepening the central cornea in the meridian of surgery. The corneal diameter decreased in that meridian. In the opposite meridian, the cornea flattened, the corneal diameter increased, and the sagittal depth decreased.","To compare surgically induced astigmatism (SIA) of different surgeons, who perform the same main incision. Two hundred and seventy eyes underwent cataract surgery with phacoemulsification by four different surgeons (A, B, C, and D). A 3-step, 3.0 mm, superotemporal for the right eye and superonasal for the left eye clear corneal incision was performed. A comparison in SIA among A, B, C and D surgeon was made. No significant difference was found in SIA at both first and sixth postoperative month between different surgeons (",0
1,Astigmatism,"Although the use of prisms is often avoided because of their aberrations, they are suitable for image-tilt correction. In contradiction to current recommendations, zero astigmatism together with zero coma cannot be achieved at minimum deviation. This paper describes two configurations that meet these conditions. A correction of earlier published third-order formulas is presented and compared to ray-tracing results. The results of the third-order theory are used to develop a model for image-tilt correction, while introducing minimal coma and maintaining a flat image field.","Adaptive optics (AO) is employed for the continuous measurement and correction of ocular aberrations. Human eye refractive errors (lower-order aberrations such as myopia and astigmatism) are corrected with contact lenses and excimer laser surgery. Under twilight vision conditions, when the pupil of the human eye dilates to 5-7 mm in diameter, higher-order aberrations affect the visual acuity. The combined use of wavefront (WF) technology and AO systems allows the pre-operative evaluation of refractive surgical procedures to compensate for the higher-order optical aberrations of the human eye, guiding the surgeon in choosing the procedure parameters. Here, we report a brief history of AO, starting from the description of the Shack-Hartmann method, which allowed the first in vivo measurement of the eye's wave aberration, the wavefront sensing technologies (WSTs), and their principles. Then, the limitations of the ocular wavefront ascribed to the IOL polymeric materials and design, as well as future perspectives on improving patient vision quality and meeting clinical requests, are described.",1
2,Astigmatism,"All people attempting to enlist in the U.S. Army must undergo a physical examination that requires a rudimentary vision screening. Those who pass the physical, upon reporting to basic training, are again evaluated and any treatment necessary to allow the recruits to function during their initial indoctrination is provided. Those who fail to see 20/20 O.D. and O.S. with their current spectacles fail the screening and are evaluated by an optometrist. If their condition is not disqualifying, appropriate correction is prescribed. We reviewed the records of all the recruits in a 1-month period who either required spectacles to see 20/20 or failed the screening at the 43rd AG BN (reception). Epidemiological evaluation revealed most to be either simple myopes or myopic astigmats. Hyperopia and hyperopic astigmatism accounted for the next most common diagnosis. Other conditions included anisometropia, antimetropia, amblyopia, keratoconus, and nystagmus. Examinations of these recruits were very limited, with dilated fundus evaluations being performed only when there was a high probability of a disqualifying condition. Therefore, it is unknown what retinal disease or degeneration may be present other than what would be visible with direct ophthalmoscopy.","To compare the astigmatism prediction accuracy for toric intraocular lens (IOL) implantation between two swept-source optical coherence tomography (SS-OCT) devices: Argos (Movu, a Santec Company) and the IOLMaster 700 (Carl Zeiss Meditec).",0
3,Astigmatism,A 42-year-old woman with functionally disabling postkeratoplasty astigmatism in her right eye 3 years after corneal transplantation for keratoconus received photorefractive keratectomy for high astigmatism in that eye. This did not reduce her astigmatism. The procedure was repeated and corneal astigmatism paradoxically increased. The forces within the pseudo-optical ring that cause and maintain astigmatism in corneal transplants may be a significant factor in the unpredictable response of some corneal transplants to excimer photorefractive astigmatism correction.,"Multifocal diffractive lenses are used widely in ophthalmology. This paper provides a general mathematical formula to summarize various multifocal diffractive lens designs and introduces a novel, design: the subzonal multifocal diffractive (SMUD) lens. Analytical and numerical methods of SMUD lens design are elaborated in detail. A number of trifocal and quadrifocal SMUD lens designs of high diffraction efficiency are presented. Fresnel zone spacing factors are introduced to take into account the incidence of a converging or diverging beam and the curvature of the substrate on which the diffractive surface is created. Apodization and ophthalmic astigmatism correction related to diffractive lenses are also discussed.",0
4,Astigmatism,"It has been shown previously that thin polymethyl methacrylate (PMMA), cellulose acetate butyrate (CAB), and Polycon I contact lenses flex on toric corneas. We investigated the flexure and induced residual astigmatism of two gas permeable contact lens materials, Paraperm O2 and Boston II, and compared the results with those of other materials. Six subjects (12 eyes) with corneal toricities ranging from 1.75 to 3.25 D wore five Paraperm O2 lenses and five Boston II lenses with center thicknesses ranging from 0.10 to 0.20 mm. Flexure and induced residual astigmatism were measured on all corneas wearing all lenses in a double-masked fashion. All lenses studied showed flexure and induced residual astigmatism, which increased as center thickness decreased. For both lens types, lenses thinner than 0.15 mm flexed significantly more than thicker lenses. This critical center thickness should be considered when fitting these lens types on toric corneas.",To evaluate the corneal epithelial thickness (CET) profile changes after small incision lenticule extraction (SMILE) surgery for myopic astigmatism correction of greater than 2.00 diopters (D).,1
5,Astigmatism,"1. Clinical prediction was better than ultrasound prediction for the first 20 cases. It was approximately equal for the next 20 cases, but after this ultrasound was the more accurate. 2. There was no significant difference in ability of either clinical prediction of ultrasound to predict the power of various types of lenses, namely, 4-loop intracapsular lenses, 2-loop extracapsular lenses and Choyce-style anterior chamber lenses. 3. There was no clinically significant difference in accuracy of prediction regardless of the source (manufacturer) studied in this series. 4. Two major factors affecting results which ultrasound is totally helpless in predicting are surgically induced astigmatism and accuracy of stated lens power supplied.","Point spread function (PSF) phantoms based on unstructured distributions of sub-resolution particles in a transparent matrix have been demonstrated as a useful tool for evaluating resolution and its spatial variation across image volumes in optical coherence tomography (OCT) systems. Measurements based on PSF phantoms have the potential to become a standard test method for consistent, objective and quantitative inter-comparison of OCT system performance. Towards this end, we have evaluated three PSF phantoms and investigated their ability to compare the performance of four OCT systems. The phantoms are based on 260-nm-diameter gold nanoshells, 400-nm-diameter iron oxide particles and 1.5-micron-diameter silica particles. The OCT systems included spectral-domain and swept source systems in free-beam geometries as well as a time-domain system in both free-beam and fiberoptic probe geometries. Results indicated that iron oxide particles and gold nanoshells were most effective for measuring spatial variations in the magnitude and shape of PSFs across the image volume. The intensity of individual particles was also used to evaluate spatial variations in signal intensity uniformity. Significant system-to-system differences in resolution and signal intensity and their spatial variation were readily quantified. The phantoms proved useful for identification and characterization of irregularities such as astigmatism. Our multi-system results provide evidence of the practical utility of PSF-phantom-based test methods for quantitative inter-comparison of OCT system resolution and signal uniformity. ",1
6,Astigmatism,"The True Vista intraocular lens (IOL), a three-zone refractive bifocal lens, was implanted in 446 patients in a prospective study. Visual acuity, pupil size, and astigmatism were determined. Contrast acuity was measured in a randomized subgroup of best-case patients (n = 60; Regan charts); subjective assessment of vision was compared in 41 best cases with a monofocal fellow eye. Two hundred twenty-seven best-case patients were available for four to six months follow-up, and 145 for seven to eleven months. Best corrected distance acuity was 20/40 or better in 96% and 98%, respectively. Near acuity was 20/30 or better in 93% and 92% with near add, in 64% and 69% uncorrected, and in 79% and 78% with distance correction, respectively. Distance and near acuity decreased with increasing astigmatism and increasing age. Contrast acuity at distance focus was lower than for monofocal IOLs (11% contrast); values at near focus were considerably lower at all contrast steps tested. Of the patients with a monofocal fellow eye, 96% rated their distance vision with glasses in the monofocal eye as good, compared with 78% in the bifocal eye. The True Vista IOL favors distance vision while near acuity is still sufficient. As high image contrast at distance is usually more important than at near, this might be a good compromise. However, bifocal IOLs should probably not be implanted in patients with a monofocal fellow eye.","The purpose of the study is a comparative analysis of the efficacy and safety of the Femto LASIK and ReLEx SMILE technologies in correcting myopic astigmatism. Materials and methods: The study included 1212 results of interventions in patients with myopic astigmatism, incl. 721 (59.5%) using ReLEx SMILE technology and 491 (40.5%) Femto LASIK technology. Visionometry and refraction investigation were performed at the time of 3, 6, 9, 12 months after the operation, as well as an analysis of the incidence of complications. Results of the study: As a result of the study, it was determined that in patients with myopic astigmatism, laser correction of refractive error using ReLEx SMILE technology gives similar results to Femto LASIK in the presence of a combination of moderate myopia and mild astigmatism. With medium-level astigmatism, the clinical results of Femto LASIK decrease (the difference in this category of patients after 1 week was 12.7% (p=0.04), they were also significant after 3 months (11.9%, p=0.042) and 9 months (8.9%, p=0.048)), which, nevertheless, remain quite satisfactory. The use of the ReLEx SMILE technique provides a significant reduction in the number of complications of laser correction of refractive errors, with both light astigmatism (3.2 times) and more pronounced violations (2.6 times). Significant differences were revealed in the frequency of dry eye syndrome (4.7 times, ?2=23.22, p=0.001), hypercorrection 14.3 times (?2 = 34.52, p <0.001) in favor of the ReLEx SMILE technique.",0
7,Astigmatism,"A detailed experimental study has been conducted on adaptive optical control methodologies inside a laser resonator. A comparison is presented of several optimization techniques using a multidither zonal coherent optical adaptive technique system within a laser resonator for the correction of astigmatism. A dramatic performance difference is observed when optimizing on beam quality compared with optimizing on power-in-the-bucket. Experimental data are also presented on proper selection criteria for dither frequencies when controlling phase front errors. The effects of hardware limitations and design considerations on the performance of the system are presented, and general conclusions and physical interpretations on the results are made when possible.",To assess the effect of peripheral corneal relaxing incisions (PCRI) for astigmatism between 0.75 and 2.5 dioptres during cataract surgery on corneal densitometry (CD).,1
8,Astigmatism,"In the past years, several lamellar keratoplasty surgical techniques have been developed, modified or improved in the past years, including microkeratome assisted anterior and posterior lamellar keratoplasty, anterior lamellar keratoplasty using air-dissection or visco-dissection, sutureless posterior lamellar keratoplasty, LASIK for postkeratoplasty astigmatism, and excimer laser assisted keratophakia for keratoconus or to manage complications after LASIK. These procedures may continue to gain interest as alternative procedures for a penetrating keratoplasty in the treatment of various corneal disorders.",To assess the intraoperative complications during small-incision lenticule extraction (SMILE) for myopia and myopic astigmatism correction and evaluate visual outcomes 6 months postoperatively.,0
9,Astigmatism,"Since the introduction of potentially accommodative intraocular lenses (IOLs), it was hard to perform an objective evaluation of the accommodative amplitude in pseudophakic eyes. Laser interferometric measurements were performed to evaluate anterior chamber depth changes, which provides information on the functionality of potentially accommodative IOLs. By means of wavefront analysis, the dynamic behaviour of potentially accommodative IOLs can be determined. All measurements in this study were performed using a Hartmann-Shack aberrometer at a frequency of 7 Hz. Six to 8 weeks after implantation of potentially accommodative IOLs (CrystaLens AT-45, C&C Vision, 1CU, Humanoptics), 43 eyes were investigated using this dynamic wavefront analysis. Patients focussed at a distance target for 10 s, followed by focussing at a near target for 10 s and then again at a distance target for a further 10 s. During these 30 s, a total of 200 single measurements were performed. The same measurements were also conducted in healthy eyes of young persons as well as in eyes after implantation of standard IOLs for comparative purposes. The dynamic course of changes in low-order aberrations (defocus, astigmatism) as well as high-order (e.g., fourth-order spherical aberration) were analysed. Dynamic wavefront analysis allowed objective and observer-independent measurement of changes in accommodation in phakic and pseudophakic eyes. Dynamic aberrometry is capable of objectively quantifying the effect of any surgical option for the treatment of presbyopia. We recommend use of this technology in addition to the common psychophysical examinations to attain objective information on the efficacy of the treatment modality used.","A 56-year-old man complaining of decreased visual acuity in his left eye visited the emergency room 1 hour after blunt trauma. Slitlamp examination showed no visible iris tissue. The corneal wound at 5 o'clock was sharp, and Seidel was negative. In the right eye, there was a main clear corneal incision (CCI) at 11 o'clock and an opposite CCI (OCCI) to correct corneal astigmatism at 5 o'clock in the left eye. Anterior chamber inflammation and hyphema resolved 4 weeks after the trauma. The intraocular lens and capsular bag were intact, and the corrected distance visual acuity returned to 20/25. To our knowledge, this is the first report of traumatic iris expulsion through a 3.0 mm OCCI. An OCCI may seal better than a main CCI, which is used in cataract surgery, because the OCCI is not used during the cataract procedure. However, surgeons should be aware of the risk for postoperative wound dehiscence associated with the OCCI.",0
0,Deafness,"This study is concerned with the mean hearing gain in 50 cases of sudden deafness and 40 cases of Menière's disease treated with different drugs and treated with Papaverin and low molecular weight dextran. The treatment of sudden deafness with Papaverin and low molecular dextran was more effective than different drugs. In cases of Menière's disease the treatment with different drugs was not effective, but Papaverin and low molecular dextran was significantly successful. Finally, it is concluded that treatment according to Spoendlin (1969) with Papaverin and low molecular dextran is superior to different drugs.","In mammals, the cochlear sensory epithelium becomes quiescent early during development. After the first postnatal week, there is no cell replacement or proliferation, and severe damage leads to permanent deafness. Supporting cells' trans-differentiation has been suggested as a way to regenerate cochlear hair cells after damage. However, they are also needed for proper functionality. Cdkn1b (p27",0
1,Deafness,"Congenital internal auditory canal stenosis is a rare cause of sensorineural hearing loss in children. A retrospective analysis including clinical manifestation and radiological findings was made for seven patients who were diagnosed with congenital internal auditory canal stenosis from 1996 to 2002. Chief presenting symptoms were hearing loss, facial nerve palsy, dizziness, and tinnitus. Hearing loss including deafness was found in five cases, vestibular function loss in four cases, and profound functional loss of facial nerve in two cases. In all cases, the diameter of the internal auditory canal was less than 2 mm on high-resolution temporal bone computed tomography (CT) scan. Two cases revealed bilateral internal auditory canal stenosis, and others were unilaterally involved cases. Congenital internal auditory canal stenosis can be an important cause of sensorineural hearing loss, facial nerve palsy, and vestibular dysfunction. High resolution temporal bone CT scan and magnetic resonance (MR) imaging were important tools for diagnosis.","The objectives of this study were to investigate the effects of place of stimulation on cortical auditory evoked potentials in relation to speech performance in cochlear implant listeners. It was designed that cortical responses were recorded for single-electrode bursts at apical, medial and basal portions of the electrode array with varying inter-stimulus intervals ranging from 300?‰ms to 5?‰s. Latency and amplitude of N1 and P2 peaks were analysed in relation to monosyllabic word scores. The study sample was 44 adult cochlear implant users ranging in age from 28 to 86?‰years. N1, P2 and N1-P2 amplitudes declined significantly from apical to basal electrodes. The most robust and pronounced responses were recorded for slower stimulation rates (5?‰s). Speech recognition correlated positively with N1 and N1-P2 amplitudes at the medial electrode. P2 latency showed a significant negative correlation with speech performance at the apical electrode. At last, cortical responses varied significantly depending on the stimulation site and rate. We can objectively quantify speech performance with the N1, N1-P2 amplitude and P2 latency in cochlear implant users. Deafness-related neural degeneration persists even after the cochlear implantation and is more distinct at the base than the apex of the cochlea.",0
2,Deafness,"A 28-year-old woman with inoperable gastric carcinoma was given continuous infusion of 5-fluorouracil (5-FU) and low-dose cisplatin (CDDP) for 4 weeks while receiving intravenous hyperalimentation (IVH). Eleven days after her last treatment, she developed acute diplopia, deafness and gait ataxia, followed by severe confusion. She became markedly acidotic and hypotensive with a systolic blood pressure of 60 mmHg, necessitating intubation, dopamine treatment and hemodialysis for 7 h. She was also given thiamine. Thereafter, her blood pressure stabilized, the acidosis improved, and her deafness, diplopia, and confusion were resolved. This case suggests that FP (5-FU/CDDP) therapy toxicity, manifested as acute metabolic acidosis and Wernicke's encephalopathy, may be associated with IVH and thiamine deficiency.","It is well known that the post-natal loss of sensory input in one modality can result in crossmodal reorganization of the deprived cortical areas, but deafness fails to induce crossmodal effects in cat primary auditory cortex (A1). Because the core auditory regions (A1, and anterior auditory field AAF) are arranged as separate, parallel processors, it cannot be assumed that early-deafness affects one in the same manner as the other. The present experiments were conducted to determine if crossmodal effects occur in the anterior auditory field (AAF). Using mature cats (n = 3), ototoxically deafened postnatally, single-unit recordings were made in the gyral and sulcal portions of the AAF. In contrast to the auditory responsivity found in the hearing controls, none of the neurons in early-deafened AAF were activated by auditory stimulation. Instead, the majority (78%) were activated by somatosensory cues, while fewer were driven by visual stimulation (44%; values include unisensory and bimodal neurons). Somatosensory responses could be activated from all locations on the body surface but most often occurred on the head, were often bilateral (e.g., occupied portions of both sides of the body), and were primarily excited by low-threshold hair receptors. Visual receptive fields were large, collectively represented the contralateral visual field, and exhibited conventional response properties such as movement direction and velocity preferences. These results indicate that, following post-natal deafness, both somatosensory and visual modalities participate in crossmodal reinnervation of the AAF, consistent with the growing literature that documents deafness-induced crossmodal plasticity outside A1.",0
3,Deafness,"To evaluate the health care utilization of a nationally representative sample of U.S. deaf adults while accounting for the age at onset of deafness, an indicator of linguistic and sociocultural group affiliation.","Although 62 years have elapsed since the first report of hereditary deafness in a mouse strain, the molecular mechanism of hair cell mechanotransduction remains elusive. Three recent studies present crucial insights into the molecular crux of hair cell mechanotransduction machinery.",1
4,Deafness,"People with deep prelingual deafness cannot fluently use oral language as a basic mode of communication. Hearing impaired subjects elaborated their own mode of communication. Cochlear implants as a surgical mode of deafness treatment may create a new chance for prelingually deaf children to develop vocal speech. The aim of this study was to assess changes in interpersonal mode of communication in pre- and perilingually deaf children after cochlear implantation. It was observed, that cochlear implantation stimulates development of oral language. The possibility of hearing perception of oral language it is a chance for a child for fully participation in life of hearing societies.","Congenital cytomegalovirus (cCMV) infection is the most common congenital infection and the leading acquired cause of developmental disabilities and sensorineural deafness, yet a reliable assessment of the infection burden is lacking.",1
5,Deafness,"Bacterial meningitis is a common cause of profound deafness and, hence, a common cause of deafness in published series of patients treated with a cochlear prosthesis. Labyrinthitis ossificans is a common finding in meningogenic labyrinthitis and has been considered a relative contraindication to cochlear implantation. In the present study, the numbers of remaining spiral ganglion cells in cases of meningogenic labyrinthitis were correlated with the severity of new bone formation within the inner ear. Six temporal bones in which profound sensorineural hearing loss occurred in life secondary to meningogenic labyrinthitis were studied by serial section light microscopy. Some degree of labyrinthitis ossificans was found in four of six. There was a moderately strong negative correlation between the number of years of total deafness and the percentage of normal of the remaining spiral ganglion cell count. There was a strong negative correlation between the degree of bony occlusion by labyrinthitis ossificans and the normality of the spiral ganglion cell count. The percentage of bony occlusion of the membranous labyrinth increased with the years of total deafness. The significance of these findings for cochlear implantation of individuals with meningogenic labyrinthitis is discussed.","At a time when deaf education teacher preparation programs are declining in number, little is known about their actual effectiveness. A phenomenological case study of a graduate-level comprehensive deaf education teacher preparation program at a midwestern university explored empowered and enabled learning of teacher candidates using the Missouri Department of Elementary and Secondary Education educator pillars: (a) commitment to the profession, (b) proficiency in practice, and (c) learning impact, all deemed critical to developing quality teachers. A strong connection was found between the program's comprehensive philosophy and its practice. Embracing diversity of d/Deafness and differentiated instruction were the most prevalent themes expressed by participants. Teacher candidates displayed outstanding commitment to the profession and high proficiency in practice. The findings suggest that additional consideration should be given to classroom and behavior management, teacher candidate workload, teaching beyond academics, and preparation for navigating the public school system.",1
6,Deafness,"Two-hundred and forty White children attending special schools for the deaf have been investigated by clinical,genetic and laboratory methods in order to determine determine the aetiology of their hearing disability of these, 36% had a genetic basis for their deafness, while in a further 34% an acquired lesion was incriminated. The most important determinants of acquired deafness were maternal rubella, neonatal hyperbilirubinaemia and meningo-encephalitis. The prevention of childhood deafness is primarily dependent upon recognition of the underlying causative factor.","While research has shown that children with single sided deafness have a lower quality of life and developmental outcomes compared to normal hearing peers, little is known about these domains in children with unilateral congenital conductive hearing loss due to aural atresia.",1
7,Deafness,"The familial long QT syndrome is a rare condition that may occur with or without deafness. Dextrocardia with complete situs inversus is a familial syndrome generally found in normal subjects with a high incidence of consanguinity among the parents. In this report we describe a Jerbian family with both disorders and with several cases of sudden death. Of 27 members of this family (3 generations) in whom ECG was performed, 15 had QT prolongation (QTc greater than 0.45). Four members (2 generations) had complete situs inversus, 3 of them also had ECG evidence of QT prolongation. The combined occurrence of these rare diseases within the same family has not been previously reported. It may be due to the high incidence of consanguinity and may raise the possibility that the loci responsible for the 2 conditions are closely related and located on the same chromosome. A more extensive study of the family is being carried out.","Genetic causes of hearing loss are highly heterogeneous and often ethnically specific. In recent years, a variety of next-generation sequencing (NGS) panels have been developed to target deafness-causative genes. Whole-exome sequencing (WES), on the other hand, was rarely used for genetic testing for deafness. In this study, we performed WES in 38 sporadic Chinese Han deaf patients who have been pre-excluded for mutations in common deafness genes GJB2, SLC26A4 and MT-RNR1. Non-synonymous variants have been filtered based on their minor allele frequencies in public databases and ethnically matched controls. Bi-allelic pathogenic mutations in eight deafness genes, OTOF, TRIOBP, ESPN, HARS2, CDH23, MYO7A, USH1C and TJP2, were identified in 10 patients, with 17 mutations identified in this study not being associated with deafness previously. For the rest 28 patients, possibly bi-allelic rare non-synonymous variants in an averaged 4.7 genes per patient were identified as candidate pathogenic causes for future analysis. Our study showed that WES may provide a unified platform for genetic testing of deafness and enables retro-analyzing when new causative genes are revealed.",0
8,Deafness,"In this study, we analysed the clinical and audiological features of 24 vestibular schwannoma patients presenting with sudden deafness who visited our hospital within 10 days after its onset. The relationships between the prognosis of hearing loss and the clinical and audiological features including the pure-tone average (PTA), the presence of dizziness and/or vertigo, the tumour size and the auditory brain stem response (ABR) findings were evaluated. Hearing recovery depended on the PTA and tumour size, but even a small tumour induced sudden deafness. Impaired hearing completely recovered in five our of 24 patients. ABR findings indicated that the aetiology of sudden deafness in the vestibular schwannoma patients might vary in each patient.","A cochlear schwannoma is a rare tumor that arises from the cochlear nerve. Clinically, a cochlear schwannoma mimics the clinical features of sudden deafness or Meniere's disease. We report a case of cochlear schwannoma that presented with sudden hearing loss, which was diagnosed with gadolinium-enhanced magnetic resonance imaging and removed using a transotic approach.",0
9,Deafness,"The clinical electrocochleography essentially allows the registration of the global action potential of the acoustic nerve. The use of acoustic stimulations with alternating polarity eliminates the cochlear microphonics. In severe deafness, where no action potential can be registered, even not with maximal acoustic impulses, it can be interesting to register the microphonic potentials. This can be done by using acoustic stimulations with the same polarity. If some microphonic potentials can be registered by this technique, one can assume that the ciliated cells are -- at least partially -- unaffected and that the cause of the deafmess in neurogenic. This test thus allows a primary differentiation between sensory and neural deafness. Some clinical cases illustrate this phenomenon.","Keratitis-ichthyosis-deafness (KID) syndrome is caused by mutations in the GJB2 gene encoding connexin 26, a component of transmembrane hemichannels which form gap junction channels, critical for cell-cell communication. Here, we report two patients from two distinct families with KID syndrome with the same GJB2 mutation (p.Asp50Asn); in both cases the mutation was de novo, as the parents depicted the wild-type allele only. The patients' cutaneous manifestations were strikingly different illustrating the wide spectrum of phenotype of these patients, even with the same GJB2 mutation. One of the patients was treated with acitretin with dramatic improvement in his skin findings, illustrating the role of oral acitretin in treatment of patients with KID syndrome. Collectively, these patients attest to the phenotypic spectrum of KID syndrome, with therapeutic perspective.",0
0,Hearing loss,"Anti-membranous labyrinth proteins antibody were tested in suspectable autoimmune sensorineural hearing loss (ASNHL) with a modified western blotting method. 5 strongly positive bands (including 68,000) existed in at most 18 of 25 cases (72%). This method was found to be more sensitive than the routine one (40%). Anti-membranous proteins of Klebsiella pneumoniae antibodies were also found in 7 of 9 tested patients.","Significant variability in noise-induced hearing loss (NIHL) susceptibility suggests there are factors beyond sound level and duration of exposure that contribute to individual susceptibility. External-ear amplification (EEA) from external-ear structures varies significantly due to ear size and shape, potentially influencing NIHL susceptibility. This study tested the hypothesis that EEA can be predicted using non-technical proxy measurements including pinna height (cm), body height (m), and earcanal volume (cm",0
1,Hearing loss,"Mucopolysaccharidosis type IIIC (MPS IIIC, or Sanfilippo syndrome C) is a rare lysosomal storage disorder caused by a deficiency of acetyl-coenzyme A:alpha-glucosaminide-N-acetyltransferase. Patients develop progressive neuropsychiatric problems, mental retardation, hearing loss, and relatively minor visceral manifestations. The pattern of transmission is consistent with an autosomal recessive mode of inheritance. The aim of this study was to find a locus for MPS IIIC using a homozygosity mapping approach. A genomewide scan was performed on DNA from 27 affected individuals and 17 of their unaffected relatives. Additional patients were recruited, and DNA was obtained from a total of 44 affected individuals and 18 unaffected family members from 31 families from 10 countries. A working candidate interval was defined by looking for excess homozygosity in patients compared with their relatives. Additional markers were genotyped in regions of interest. Linkage analysis was performed to support the informal analysis. Inspection of the genomewide scan data showed apparent excess homozygosity in patients compared with their relatives for markers on chromosome 8. Additional genotyping identified 15 consecutive markers (from D8S1051 to D8S2332) in an 8.3 cM interval for which the genotypes of affected siblings were identical in state. A maximum multipoint lod score of 10.61 was found at marker D8S519. A locus for MPS IIIC maps to an 8.3 cM (16 Mbp) interval in the pericentromeric region of chromosome 8.","Cochlear implantation is a widely accepted, safe procedure for patients with severe to profound sensorineuronal hearing loss. While complications are rare, revision surgeries are required for complications like device failure, misplaced electrode, flap necrosis, and wound infection. Foreign body reaction is a rare complication following cochlear implantation. We experienced a case of foreign body reaction after cochlear implantation treated by device removal. Foreign body reaction has to be considered as one of several causes in cochlear implantation cases that show symptoms mimicking recurrent wound infection or delayed extrusion. We report a case of foreign body reaction with a literature review.",0
2,Hearing loss,"We report a patient with antithyroid drug-induced progressive bilateral sensorineural hearing loss associated with myeloperoxidase-antineutrophil cytoplasmic antibodies (MPO-ANCA). While antithyroid drugs have been linked to MPO-ANCA-associated small-vessel vasculitis, sensorineural hearing loss rarely was noted. A 36-year-old man treated for hyperthyroidism with propylthiouracil (PTU) developed progressive bilateral sensorineural hearing loss accompanied by fever and arthritis. MPO-ANCA were demonstrated in serum. Distortion product otoacoustic emissions test results suggested dysfunction of outer hair cells of the organ of Corti. Inner ear blood flow impairment from ANCA-associated small-vessel vasculitis presumably caused cochlear dysfunction. PTU withdrawal and high-dose methylprednisolone administration greatly improved hearing on both sides.",This study aimed to explore the neural substrate of hearing loss-related central nervous system in rats and its correlation with cognition.,0
3,Hearing loss,"Unilateral cochlear hearing loss is considered as a risk factor for auditory, verbal-communicative, behavioral and academic development. An early diagnosis is therefore necessary.","Sudden sensorineural hearing loss (SSNHL) accompanied by benign paroxysmal positional vertigo (BPPV) is relatively common in the clinic. There are unified standards for the treatment of primary BPPV with good reduction effect, while there are few studies on the treatment of BPPV secondary to SSNHL within 1 week of onset. The study was to investigate the treatment of BPPV secondary to SSNHL and compare its manual reduction with that of primary BPPV. We selected 90 patients with BPPV accompanied by SSNHL within a week of onset and 210 primary BPPV patients at Hebei Provincial Eye Hospital from June 2020 to December 2022. The former group was divided into the medicine group and manual reduction plus medicine group. The medicines used were extract of Ginkgo biloba leaves injection, betahistine hydrochloride injection and oral prednisone. We contrasted the efficacy respectively for posterior semicircular canal BPPV (psc-BPPV), horizontal semicircular canal BPPV (hsc-BPPV) and multiple semicircular canal BPPV (msc-BPPV). In addition, we compared the manual reduction effect for primary BPPV and manual reduction group, and the evaluation of efficacy are the intensity of nystagmus and the clinical symptoms. In the secondary BPPV group, there was no difference in efficacy between the medicine group and manual reduction group at the 7th-day after reduction for psc-BPPV, hsc-BPPV, and msc-BPPV (P????05). The immediate effect of reduction was significantly different between the primary BPPV group and the group with SSNHL and BPPV for both psc-BPPV and hsc-BPPV (P????05), and the effect of the primary BPPV group was better, but it was no difference for msc-BPPV (P????05). For the treatment of BPPV accompanied by SSNHL within 1 week of onset, the additional reduction therapy showed no benefit, so we need to apply medication for SSNHL.",0
4,Hearing loss,"Some health authorities in the UK are discontinuing hearing screening at school entry, mainly because the pure tone sweep test is under-specific (i.e. fails too many children) and thus leads to unnecessary and costly, but unproductive, follow-up assessment. A screening method with different properties such as a questionnaire could be a more cost-effective method of mass screening children. The MRC Institute of Hearing Research has developed and evaluated through several stages such a screening questionnaire (the Childhood Middle Ear Disease and Hearing Questionnaire (CMEDHQ), containing 11 scored questions under two broad headings: history and presentation of the disease, and consultation/treatment history. In a service-based evaluation, 2860 mainstream reception-year school children from two consecutive years, attending schools in south west Cumbria in the North-West Regional Health Authority received the sweep test and the CMEDHQ. (Although predominantly designed to detect middle ear problems, the questionnaire also has some potential to detect permanent hearing loss; thus providing a useful backstop for detection of permanent losses either missed or not present in earlier infancy.) The screening CMEDHQ obtained a very high response rate (90%). Follow-up included 235 control cases as well as all pure tone sweep test failures. Analysis, by use of a definition of cases conservative with respect to the sensitivity of the questionnaire, showed that the CMEDHQ has better specificity, but slightly lower sensitivity, than the pure tone sweep test for composite system decision (where 'case' = treated at ENT; 'non-case' = pass at whatever stage was reached before discharge). Follow-up indicated that the limited method available for assessing sensitivity might give an over-favourable view of the pure tone sweep test. Possible improvement of questionnaire sensitivity by further refinements is under examination. The findings show that it is worth conducting a fully parallel multi-district cost-effectiveness comparison of the pure tone sweep test versus the CMEDHQ.","Listening to speech is often demanding because of signal degradations and the presence of distracting sounds (i.e., ""noise""). The question how the brain achieves the task of extracting only relevant information from the mixture of sounds reaching the ear (i.e., ""cocktail party problem"") is still open. In analogy to recent findings in vision, we propose cortical alpha (~10 Hz) oscillations measurable using M/EEG as a pivotal mechanism to selectively inhibit the processing of noise to improve auditory selective attention to task-relevant signals. We review initial evidence of enhanced alpha activity in selective listening tasks, suggesting a significant role of alpha-modulated noise suppression in speech. We discuss the importance of dissociating between noise interference in the auditory periphery (i.e., energetic masking) and noise interference with more central cognitive aspects of speech processing (i.e., informational masking). Finally, we point out the adverse effects of age-related hearing loss and/or cognitive decline on auditory selective inhibition. With this perspective article, we set the stage for future studies on the inhibitory role of alpha oscillations for speech processing in challenging listening situations. ",0
5,Hearing loss,"Selective chemical ablation of the vestibular endorgan using intratympanic gentamicin is an effective and safe treatment for incapacitating vertigo in patients with unilateral Menière's disease. A major risk of the treatment is sensorineural hearing loss. In this retrospective study, two different regimens of intratympanic gentamicin therapy are compared. In one group, multiple daily doses were administered in hospital over 4 consecutive days. The other group received single treatments at weekly intervals on an outpatient basis, following pretreatment audiometric and clinical assessment. We adopted the weekly protocol to theoretically reduce the incidence of treatment-related hearing loss by a more controlled titration of dosing. Preliminary results indicate that the weekly interval treatment offers equivalent efficacy with considerably less risk to hearing.","Susac syndrome is a rare autoimmune endotheliopathy involving the brain, retina, and inner ear. Olfactory dysfunction is a common early manifestation of several central nervous system diseases, including neurodegenerative diseases and autoimmune-mediated diseases such as Multiple Sclerosis. While the literature is abundant about the Susac syndrome classic triad of encephalopathy, branch retinal artery occlusion, and low-frequency sensorineural hearing loss, little is known about the extent of olfactory sense involvement.",0
6,Hearing loss,"Twenty-four patients with acute low-tone sensorineural hearing loss (ALHL) were examined using electrocochleography. The negative summating potential (SP) amplitude and the summating potential/action potential (AP) ratio were significantly greater in the ALHL patients than in normals. The SP/AP ratio was smaller in the ALHL patients than in patients with known Meniere's disease and moderate hearing loss, although the SP amplitude was somewhat greater in the former. An abnormal increase in the SP amplitude following click stimuli was found in 54% of the ALHL patients, while the SP/AP ratio was increased abnormally in 63% of these patients. These findings suggest that the pathophysiology of ALHL may be similar to that for endolymphatic hydrops.","Tinnitus has been suggested to arise from neuronal hyperactivity in auditory areas of the brain, and anti-epileptic drugs are sometimes used to provide relief from tinnitus. Recently, the anti-epileptic properties of the cannabinoid drugs have gained increasing interest; however, the use of cannabinoids as a form of treatment for tinnitus is controversial. In this study, we tested whether a combination of delta-9-tetrahydrocannabinol (delta-9-THC) and cannabidiol (CBD), delivered in a 1:1 ratio, could affect tinnitus perception in a rat model of acoustic trauma-induced tinnitus. Following sham treatment or acoustic trauma, the animals were divided into the following groups: (1) sham (i.e., no acoustic trauma) with vehicle treatment; (2) sham with drug treatment (i.e., delta-9-THC???‰CBD); (3) acoustic trauma-exposed exhibiting tinnitus, with drug treatment; and (4) acoustic trauma-exposed exhibiting no tinnitus, with drug treatment. The animals received either the vehicle or the cannabinoid drugs every day, 30?‰min before the tinnitus behavioral testing. Acoustic trauma caused a significant increase in the auditory brainstem response (ABR) thresholds in the exposed animals, indicating hearing loss; however, there was a partial recovery over 6?‰months. Acoustic trauma did not always result in tinnitus; however, among those that did exhibit tinnitus, some of them had tinnitus at multiple frequencies while others had it only at a single frequency. The cannabinoids significantly increased the number of tinnitus animals in the exposed-tinnitus group, but not in the sham group. The results suggest that cannabinoids may promote the development of tinnitus, especially when there is pre-existing hearing damage. ",0
7,Hearing loss,"Twelve adults with unilateral hearing losses were tested to determine interaural attenuation for spondaic words. Low-pass and band-pass filters were used to simulate hearing loss at the normal ear. Results suggest that in deciding on the possibility of cross hearing, the spondee threshold at the test ear should be compared to the most sensitive bone-conduction threshold at the nontest ear, excluding .25 kc/s.",The large conductance Ca(2+)-activated K(+??channels (BK) expression is decreased in the cochleae of age-related hearing loss (AHL) mice. BK channel may be associated with AHL.,0
8,Hearing loss,"A 37-year-old man with juvenile and refractory hypertension was admitted to our hospital for progressive left hearing loss, vertigo, and dizziness. Neurological examination revealed left hearing loss and exaggerated deep tendon reflexes and vestibular dysfunction. MRI and cerebral angiography disclosed megadolichobasilar artery (MDBA). Moreover, modified MR cisternography at the medulla disclosed marked compression and deformity of the left rostral ventrolateral medulla (RVLM) by the dolichoectatic right vertebral artery. In the literatures, bulbovascular compression has been reported in 4 among 9 patients with MDBA (including the present patient), for whom MRI of the medulla was presented. All 4 patients suffered from hypertension, and at least 3 of them showed juvenile and refractory hypertension. Ipsilateral pyramidal tract disturbance (Opalski syndrome) was observed in 3 patients. Considering the recent concept that the cardiovascular center can be localized at the RVLM, juvenile and refractory hypertension, and possibly Opalski syndrome in the present patient can be attributed to bulbovascular compression by MDBA. In the patients with MDBA and hypertension or Opalski syndrome, MR cisternography of the medulla is warranted to evaluate compression by MDBA.",The aims of this study were to clarify the clinical value of the bony cochlear nerve canal (BCNC) and internal auditory canal (IAC) in children with bilateral sensorineural hearing loss (b-SNHL) and to reveal the correlation between these parameters and outcomes after cochlear implantation (CI).,0
9,Hearing loss,"Clinicians have been aware of the problem of post-stapedectomy perilymph fistulas for some time. The existence of non-surgical oval and round window fistulas has been known and was first described in detail by Fee in 1968. This paper concerns a small series of patients with spontaneous and traumatic perilymph fistulas. Five oval window fistulas and one round window fistula are reported. Clinical features, audiometric, radiographic and vestibular findings are discussed. The etiology of traumatic and spontaneous fistulas is not well understood, but seems to bear a relationship to sudden increased in intracranial pressure transmitted to the inner ear through the cochlear aqueduct. Middle ear pressure changes, as seen in acoustic or barotrauma, may also cause these leaks. Indications for surgery and techniques of perilymph fistula identification and repair are discussed in the paper. Surgical correction led to relief of vertigo in 80 percent of patients in this series, and significant hearing improvements were seen in 50 percent of the patients. In evaluating patients with sudden sensori-neural hearing loss, or persistent vestibular symptoms following head or ear trauma, the otologist should keep in mind the possibility of a perilymph fistula and actively investigate these patients. Evidence presented in this paper and in the literature suggest that identification and correction of spontaneous and traumatic perilymph fistulas can lead to resolution of vestibular symptoms and improved hearing in a significant number of patients with these lesions.","A universal programme of newborn/early hearing screening was introduced fifteen years ago in the northern part of Belgium (Flanders) by the Government Health Service 'Kind en Gezin' (Child and Family). Since then, large numbers of hearing-impaired babies have been fitted with conventional hearing aids at a very young age, mostly before the age of 2-3 months. As a result of the early hearing screening programme, the decision to proceed with a cochlear implant is now taken much earlier. Fitting hearing aids in very young children is always part of a continuous diagnostics approach based on cross-checks and a combination of objective and subjective audiometry. It is also a component of a multidisciplinary approach, with parents as the essential party. Fitting hearing aids in very young children cannot be separated from this approach. This article therefore stresses the positive evolution of the last fifteen years in the context of three basic elements for helping young children with hearing loss and their families: diagnostics, fitting hearing aids and treatment. Early screening and the consequent early diagnosis of hearing loss in neonates triggered the transformation of support arrangements for young children with hearing loss and their families.",0
0,Dyslexia,"If reading disabilities were the result of developmental lags, disabled readers should catch up to their peers in proficiency at maturity. As a test of this hypothesis, current literacy skills were assessed for adults who did, and did not, have childhood reading disabilities. Contrary to the developmental lag hypothesis, most of the former group remained poor readers in adulthood, in many cases reading more than two standard deviations below levels predicted by IQ. Both within and between groups, very similar relationships were observed between reading level and: word recognition; phonic analysis; prose comprehension; reading speed; spelling ability and error types; and tolerance for visual and semantic text transformations. Other purported characteristics of dyslexia differentiated disabled from normal adult readers with only limited success. The results have implications for theoretical, methodological, and practical issues in the study of dyslexia in childhood as well as adulthood.","Poor reading skills of developmental dyslexics persist into adulthood with standard remediation protocols having little effect. Nevertheless, reading improves if readers are induced to read faster. Here we show that this improvement can be enhanced by training. Training follows a multi-session procedure adapted to silent sentence reading, with individually set, increasingly more demanding, time constraints (letter-by-letter masking). In both typical and dyslexic adult readers, reading times are shortened and comprehension improves. After training, the dyslexic readers' performance is similar to that of typical readers; moreover, their connected text reading times and comprehension scores significantly improve in standard reading tests and are retained at 6 months post training. Identical training without time constraints proves ineffective. Our results suggest that fluent reading depends in part on rapid information processing, which then might affect perception, cognitive processing and possibly eye movements. These processes remain malleable in adulthood, even in individuals with developmental dyslexia.",0
1,Dyslexia,"Research by Evans et al. (Ophthal. Physiol. Opt. 15, 481-487, 1995) has demonstrated a correlation between visual processing and ocular motor factors in people with specific reading difficulties (dyslexia). In addition, research by Wilkins et al. (Ophthal. Physiol. Opt. 14, 365-370, 1994) has shown that some people with dyslexia will benefit from a reduction of perceptual symptoms of discomfort and distortion if they use individually prescribed coloured filters. Three examples of the dyslexic patients who attend at the Institute of Optometry clearly demonstrate the importance of full investigation of ocular function, including the assessment of the effect of colour on visual perception. All three patients presented with similar symptoms of asthenopia when reading. Symptoms were alleviated for the first patient by use of orthoptic treatment of an exotropia with intermittent suppression. With the second patient, ocular motor functions were found to be within acceptable limits and relief of symptoms was obtained by the prescribing of lenses of a specific chromaticity. For the third patient, both orthoptic intervention and the use of specifically tinted lenses were necessary to relieve the visual difficulties that were being experienced. By taking advantage of recent research and developments in optometric instrumentation, it is possible for some of those with dyslexia to receive considerable benefit from optometric intervention.","Developmental dyslexia is a reading disorder often characterized by reduced awareness of speech units. Whether the neural source of this phonological disorder in dyslexic readers results from the malfunctioning of the primary auditory system or damaged feedback communication between higher-order phonological regions (i.e., left inferior frontal regions) and the auditory cortex is still under dispute. Here we recorded magnetoencephalographic (MEG) signals from 20 dyslexic readers and 20 age-matched controls while they were listening to ??0-s-long spoken sentences. Compared to controls, dyslexic readers had (1) an impaired neural entrainment to speech in the delta band (0.5-1 Hz); (2) a reduced delta synchronization in both the right auditory cortex and the left inferior frontal gyrus; and (3) an impaired feedforward functional coupling between neural oscillations in the right auditory cortex and the left inferior frontal regions. This shows that during speech listening, individuals with developmental dyslexia present reduced neural synchrony to low-frequency speech oscillations in primary auditory regions that hinders higher-order speech processing steps. The present findings, thus, strengthen proposals assuming that improper low-frequency acoustic entrainment affects speech sampling. This low speech-brain synchronization has the strong potential to cause severe consequences for both phonological and reading skills. Interestingly, the reduced speech-brain synchronization in dyslexic readers compared to normal readers (and its higher-order consequences across the speech processing network) appears preserved through the development from childhood to adulthood. Thus, the evaluation of speech-brain synchronization could possibly serve as a diagnostic tool for early detection of children at risk of dyslexia. Hum Brain Mapp 37:2767-2783, 2016. © 2016 Wiley Periodicals, Inc.",0
2,Dyslexia,"The causes of dyslexia are unknown, but previous studies have suggested an immunological basis in some cases. We hypothesised that maternal antibodies, which cross the placenta and bind to fetal antigens, could be responsible, particularly when the dyslexia recurs in consecutive pregnancies. We injected serum samples from five mothers of two or more children with dyslexia into pregnant mice, and tested the offspring for behavioural abnormalities and cerebellar metabolites by magnetic resonance spectroscopy (MRS). Mice exposed in utero to serum factors from one woman with two dyslexic children, who had also had three spontaneous fetal losses, showed deficits in motor tests which correlated with cerebellar choline (Cho) and creatine (Cr) levels. These preliminary results are consistent with a role for maternal serum factors, probably antibodies, in causing some of the features of dyslexia, and possibly in other neurodevelopmental disorders.",The purpose of the study was to examine the knowledge base of preservice teachers from the USA and the UK of dyslexia as a language-based learning disability. A survey (both US and UK versions) was constructed using current research-based understandings of dyslexia as a language-based learning disability. One hundred and one preservice teachers from the USA and 70 preservice teachers from the UK were administered the survey. Results indicated that participants in the two groups demonstrated some similar accurate knowledge about dyslexia as well as displaying some common misunderstandings about dyslexia. Recommendations concerning preservice teacher preparation and professional development for in-service teachers about dyslexia as well as future research directions are discussed.,1
3,Dyslexia,"This study examines morphological awareness in developmental dyslexia. While the poor phonological awareness of dyslexic children has been related to their difficulty in handling the alphabetical principle, less is known about their morphological awareness, which also plays an important part in reading development. The aim of this study was to analyze in more detail the implications of the phonological impairments of dyslexics in dealing with larger units of language such as morphemes. First, the performance of dyslexic children in a series of morphological tasks was compared with the performance of children matched on reading-level and chronological age. In all the tasks, the dyslexic group performed below the chronological age control group, suggesting that morphological awareness cannot be developed entirely independently of reading experience and/or phonological skills. Comparisons with the reading-age control group indicated that, while the dyslexic children were poorer in the morphemic segmentation tasks, they performed normally for their reading level in the sentence completion tasks. Furthermore, they produced more derived words in the production task. This suggests that phonological impairments prevent the explicit segmentation of affixes while allowing the development of productive morphological knowledge. A second study compared dyslexic subgroups defined by their degree of phonological impairment. Our results suggest that dyslexics develop a certain type of morphological knowledge which they use as a compensatory reading strategy.","Children with dyslexia and/or specific language impairment have marked deficits in phonological processing, putting them at an increased risk for reading deficits. The current study sought to examine the influence of word-level phonological and lexical characteristics on phonological awareness. Children with dyslexia and/or specific language impairment were tested using a phoneme deletion task in which stimuli differed orthogonally by sound similarity and neighborhood density. Phonological and lexical factors influenced performance differently across groups. Children with dyslexia appeared to have a more immature and aberrant pattern of phonological and lexical influence (e.g., favoring sparse and similar features). Children with SLI performed less well than children who were typically developing, but followed a similar pattern of performance (e.g., favoring dense and dissimilar features). Collectively, our results point to both quantitative and qualitative differences in lexical organization and phonological representations in children with SLI and in children with dyslexia. ",0
4,Dyslexia,"Eight dyslexic subjects, impaired on a range of tasks requiring phonological processing, were matched for age and general ability with six control subjects. Participants were scanned using positron emission tomography (PET) during three conditions: repeating real words, repeating pseudowords, and rest. In both groups, speech repetition relative to rest elicited widespread bilateral activation in areas associated with auditory processing of speech; there were no significant differences between words and pseudowords. However, irrespective of word type, the dyslexic group showed less activation than the control group in the right superior temporal and right post-central gyri and also in the left cerebellum. Notably, the right anterior superior temporal cortex (Brodmann's area 22 [BA 22]) was less activated in each of the eight dyslexic subjects, compared to each of the six control subjects. This deficit appears to be specific to auditory repetition as it was not detected in a previous study of reading which used the same sets of stimuli (Brunswick, N., McCrory, E., Price, C., Frith, C.D., & Frith, U. [1999]. Explicit and implicit processing of words and pseudowords by adult developmental dyslexics: A search for Wernicke's Wortschatz? Brain, 122, 1901-1917). This implies that the observed neural manifestation of developmental dyslexia is task-specific (i.e., functional rather than structural). Other studies of normal subjects indicate that attending to the phonetic structure of speech leads to a decrease in right-hemisphere processing. Lower right hemisphere activation in the dyslexic group may therefore indicate less processing of non-phonetic aspects of speech, allowing greater salience to be accorded to phonological aspects of attended speech.","Accumulating evidence from both human lesion and functional neuroimaging studies appears to support the hypothesis that the cerebellum contributes to non-motor functions. Along similar lines, cognitive, affective and behavioural changes in psychiatric disorders, such as autism, schizophrenia and dyslexia, have been linked to structural cerebellar abnormalities. The aim of this special issue was to evaluate the current knowledge base after more than 20 years of controversial discussion. The contributions of the special issue cover the most important cognitive domains, i.e., attention, memory and learning, executive control, language and visuospatial function. The available empirical evidence suggests that cognitive changes in patients with cerebellar dysfunction are mild and clearly less severe than the impairments observed after lesions to neocortical areas to which the cerebellum is closely connected via different cerebro-cerebellar loops. Frequently cited early findings, e.g., with respect to a specific cerebellar involvement in attention, have not been replicated or might be confounded by motor or working memory demands of the respective attention task. On the other hand, there is now convincing evidence for a cerebellar involvement in the mediation of a range of cognitive domains, most notably verbal working memory. Verbal working memory problems may partly underlie the compromised performance of cerebellar lesion patients on at least some complex cognitive tasks. Although investigations have moved from anecdotical case reports to hypothesis-driven controlled clinical group studies based on sound methods which are complemented by state-of-the-art functional neuroimaging studies, the empirical evidence available so far does not yet allow a convincing theory of the mechanisms of a cerebellar involvement in cognitive function. Future studies are clearly needed to further elucidate the nature of the processes linked to cerebellar mediation of cognitive processes and their possible link to motor theories of cerebellar function, e.g., its role in prediction and/or timing.",0
5,Dyslexia,"The authors report findings in a 67-year-old right-handed man who had an ischemic infarct in the territory of the left posterior cerebral artery. The clinical manifestation consisted mainly of total alexia without agraphia. The patient gradually recovered, subsequently showing the syndrome of spelling dyslexia. Cerebral MR-images revealed a circumscript infarction of medial and basal parts of left temporal lobe. In the acute stage [99mTc]HM-PAO SPECT was characterized by a diminished uptake in the definitely infarcted area and hyperfixation in the region of the left forceps major. Because high retention of HM-PAO indicates potentially salvageable tissue after an ischemic event, the depicted area might be correlated with the recovery of function. Thus, the authors' neuroimaging data give further support to the assumption that the left forceps major is a critical area for global alexia, whereas spelling dyslexia is due to involvement of the left medio-basal temporal lobe.","We enrolled pediatric subjects with developmental dyslexia and, as a control group, healthy age- and sex-matched subjects without developmental dyslexia. Thyroid function was evaluated in subjects with developmental dyslexia measuring serum concentrations of thyroid-stimulating hormone (TSH), free triiodothyronine (fT3), and free thyroxine (fT4). Thyroid autoimmunity was evaluated in all subjects measuring antithyroid peroxidase (TPO-Ab) and antithyroglobulin (TG-Ab) antibodies. In subjects with developmental dyslexia, thyroid ultrasonography (US) was also performed.",0
6,Dyslexia,"A recently introduced optometric technique, colorimetry, enables the perceptual effects of ophthalmic tints to be evaluated subjectively, optimized, and then prescribed in tinted spectacles. The new technique is beneficial in reducing visual stress in patients with dyslexia and migraine. We describe an open trial designed to ascertain: (1) whether the colorimetry assessment, as it is now given, is safe for the investigation of photosensitive patients in optometry clinics where colorimetry equipment is most readily available, but where EEG control is not practical; (2) what proportion of patients with photosensitive epilepsy is likely to benefit to the extent already described in individual cases; (3) whether a tint selected by colorimetry could be shown to reduce the incidence of paroxysmal epileptiform EEG activity in response to flicker and patterns, thereby validating the subjective methods and corroborating the reported seizure reduction. Twenty-four females and nine males (aged 12-43 years) took part. All the patients had suffered visually-provoked seizures, had exhibited a photoparoxysmal response on at least one previous EEG recording, and had received a diagnosis of photosensitive epilepsy. Twenty-two were currently experiencing seizures. A further EEG was recorded in all except seven cases: a routine resting record, followed by hyperventilation. Colorimetry was performed after hyperventilation and before photic stimulation. Twenty-three (70%) reported beneficial effects during colorimetry and were prescribed glasses. There was a preponderance of lenses with a rose or purple colour, in contrast to patients with dyslexia. Seventeen of the 23 patients were available at follow-up, an average of 2.4 years later. Thirteen (57%) reported benefits, and said they were still using the lenses. In six of the 13 the benefits were pronounced, including a reduction of dizziness from fluorescent lighting, elimination of aura when using computer screens etc. Only in three cases was there a reduction in seizures that could reasonably be attributed to the use of lenses; in two of these cases no medications were prescribed, and in the third the medications remained unchanged for four years, two before and two after the introduction of the glasses. In an additional four cases a reduction in seizures was observed but medication had been changed. There was a modest reduction in EEG photosensitivity with the coloured lenses but also to an equivalent or lesser extent with grey in all of the eight patients examined in this way. One patient had seizures during colorimetry, but the seizures were not accompanied by scalp EEG changes.","The current study examined the effect of morphological knowledge on spelling development in Hebrew-speaking schoolchildren, adolescents and adults with dyslexia, compared with typically developing (TD) peers. Participants were 238 Hebrew-speaking readers of five grade levels of whom 139 were TD and 99 had developmental dyslexia (DD). Participants were tested on a function letter spelling task, a phonological awareness task and a morphological awareness task. The overall picture that emerged from the results is that performance on all measures increased with grade level, with TD participants always scoring higher than peers with DD. Moreover, the higher the morphological complexity in spelling and irregularity in noun inflection, the higher the differences between the DD and TD participants. Finally, performance on the morphological awareness task contributed to spelling morphologically more complex spelling items in the TD, but not in the DD group. From clinical and educational perspectives, these results strongly suggest that rigorous morphological instruction is necessary in teaching children and adolescents with dyslexia to identify and use morphological cues in spoken and written Hebrew. Copyright © 2017 John Wiley & Sons, Ltd.",1
7,Dyslexia,"In tests of her ability to produce written and spoken language, this deep dyslexic patient produced semantic, visual, and derivational errors, including functor substitutions, and exhibited part-of-speech and abstractness effects in oral reading, oral and written naming, and writing to dictation, but not in repetition of single words and copying from memory. This patient therefore provides confirmation of the hypothesis presented in Nolan and Caramazza (1982) that the defining symptoms of deep dyslexia will be observed in responses to any task which requires lexical mediation. The patient's written responses in all tasks but direct copying were characterized by spelling errors which included transpositions, omissions, substitutions, and additions of letters. A model of writing is proposed which explains these errors in terms of a disruption of a phoneme-grapheme conversion process which normally functions to prevent decay of information from a Graphemic Buffer.","As some critics have stated, the term ""developmental dyslexia"" refers to a strictly human disorder, relating to a strictly human capacity - reading - so it cannot be modeled in experimental animals, much less so in lowly rodents. However, two endophenotypes associated with developmental dyslexia are eminently suitable for animal modeling: Cerebral Lateralization, as illustrated by the association between dyslexia and non-righthandedness, and Cerebrocortical Dysfunction, as illustrated by the described abnormal structural anatomy and/or physiology and functional imaging of the dyslexic cerebral cortex. This paper will provide a brief review of these two endophenotypes in human beings with developmental dyslexia and will describe the animal work done in my laboratory and that of others to try to shed light on the etiology of and neural mechanisms underlying developmental dyslexia. Some thought will also be given to future directions of the research.",0
8,Dyslexia,"We review data from our laboratory related to a view of dyslexia as a biological disorder, or deficit, caused by both structural and functional brain abnormalities. The review is focused on central auditory processing in dyslexia, and the possibility that impairments in the auditory or acoustic features of the phonological code may be at the heart of the impairments seen in dyslexia. Three methodological approaches by which to investigate central auditory processing deficits are outlined: dichotic listening (DL) to consonant-vowel syllables; magnetic resonance imaging (MRI), and the use of event-related potentials (ERPs). Consonant-vowel syllable DL is a technique for probing the functional status of phonological processing areas in the superior temporal gyrus, particularly in the left hemisphere. MRI is a corresponding structural, or morphological, measure of anatomical abnormalities in the same brain region, particularly covering the planum temporale area. The ERP technique, and particularly the mismatch negativity (MMN) component, reveals cortical dysfunctions in sensory processing and memory related to basic acoustic events. For all three approaches, the dyslexic children were seen to differ from their control counterparts, including absence of modulation of the right ear advantage (REA), in DL through shifting of attention, smaller left-sided planum temporale asymmetry, and prolonged latency in the MMN ERP complex, particularly in the time-deviant stimulus condition.","Developmental dyslexia is one of the most common neurobehavioral disorders affecting children, but prevalence data on this condition are poor. The objective of the present study is to determine the prevalence of dyslexia in Italy in an unselected school population, using clearly defined diagnostic criteria and methods.",0
9,Dyslexia,"For diagnosing dyslexia (Legasthenie) we describe a neurological, psychiatric and psychodiagnostic examination, which was practicable for clinical use. Furthermore we critical new trends in pedagogical and school-ministerial institutions neglecting clinical facts concerning the complexities of causes, primary and secondary symptoms of reading and writing disorders. Finally various scientific efforts are reviewed which aim at gaining more precise knowledge on the correlations between physiological brain processes and the normal or disturbed learning of reading and writing.","In the present study, we used a three-time point longitudinal design to investigate the associations of morphological awareness to word reading and spelling in a small group of those with and without dyslexia taken from a larger sample of 164 Hong Kong Chinese children who remained in a longitudinal study across ages 6, 7 and 8. Among those 164 children, 15 had been diagnosed as having dyslexia by professional psychologists, and 15 other children manifested average reading ability and had been randomly selected from the sample for comparison. All children were administered a battery of tasks including Chinese character recognition, word dictation, morphological awareness, phonological awareness and rapid automatized naming. Multivariate analysis of variance and predictive discriminate analysis were performed to examine whether the dyslexic children showed differences in the cognitive-linguistic tasks in comparison with controls. Results suggested that the dyslexic groups had poorer performance in morphological awareness and RAN across all 3 years. However, phonological awareness was not stable in distinguishing the groups. Findings suggest that morphological awareness is a relatively strong correlate of spelling difficulties in Chinese, but phonological awareness is not. Copyright © 2017 John Wiley & Sons, Ltd.",0
0,Asperger,"Autism spectrum disorders (ASD) are a heterogeneous group of disorders encompassing Autistic Disorder, Asperger's Disorder, Semantic-Pragmatic disorder and Pervasive Developmental Disorder Not Otherwise Specified. Auditory integration therapy (AIT) was developed as a technique for improving abnormal sound sensitivity in individuals with behavioural disorders including autism. Other sound therapies bearing similarities to AIT include the Tomatis Method and Samonas Sound Therapy.","Although a number of advanced theory of mind tasks have been developed, there is a dearth of information on whether performances on different tasks are associated. The present study examined the performance of 21 children and adolescents with diagnoses of Asperger syndrome (AS) and 20 typically developing controls on three advanced theory of mind tasks: The Eyes Task, the Strange Stories, and the Stories from Everyday Life. The participants in the clinical group demonstrated lower performance than the controls on all the three tasks. The pattern of findings, however, indicates that these tasks may share different information-processing requirements in addition to tapping different mentalizing abilities.",0
1,Asperger,"Pervasive Developmental Disorder (PDD) is characterized by peculiar psycho-behavioral patterns. Youths with PDD who commit delinquent acts often exhibit strange behavior beyond ordinary comprehension. In order to fully understand and identify PDD it is important to take a comprehensive psychosocial history. Here we report on a 19-year-old delinquent male from a juvenile detention home who was exhibiting PDD. Both the psycho-behavioral patterns of the subject and the dysfunctional family background were key factors in this case. The subject persistently stalked and harassed an elementary school girl despite repeated intervention by police and the girl's parents to stop doing so. This behavior culminated in the subject being arrested and put on probation. While on probation his behavior continued, leading to his arrest and confinement to a correctional facility for juveniles with medical needs. Several features that included sustained impairment in social interaction and repetitive patterns of behavior that are often identified in delinquents with PDD were found to exist in the subject and he was diagnosed with PDD (probably Asperger's disease). The subject presented with a superficial understanding of the consequences his behavior had on others and for himself. Also, impaired family function was found to be a major contributing factor to his delinquency. Together theses factors hindered the subject from acquiring appropriate social skills. The major responsibility for providing care and support of an individual with PDD is within the family. Failure of the family to undertake such responsibilities can lead to ineffective treatment even after a specialist has identified the disorder. Given the slow decline of the nuclear family in Japan, it is important to understand the role of the family in caring for a child with PDD. Also, public recognition of PDD and social support for individuals with the disorder is important.","Autism spectrum disorders (ASD) include Autistic Disorder, Asperger's Disorder and Pervasive Developmental Disorder Not Otherwise Specified (PDD-NOS). Irritability related to ASD has been treated with antipsychotics. Aripiprazole, a third generation atypical antipsychotic, is a relatively new drug that has a unique mechanism of action different from other antipsychotics.",0
2,Asperger,"The study examined developmental changes in autistic symptoms retrospectively in a sample of 28 verbal children and adolescents with autism. Individuals with Asperger syndrome, PDD-NOS, and related medical conditions were not included in the study. We compared autistic symptoms present at the retrospective assessment and during the 4- to 5-year age period using the ADI-R. Our findings revealed a significant improvement in the three domains relevant for the diagnosis of autism, independent of age or IQ level. Improvement occurred in more symptoms from the social than the communication domain, and for more symptoms from the latter than the restricted interest and repetitive behavior domains. The finding that improvement was not linked to level of functioning and was found in individuals still positive for a diagnosis of autism suggests that improvement belongs to the 'natural history' of the handicap.","According to the DSM-IV, the autism diagnosis always has priority over the Asperger syndrome (AS). If a patient meets the criteria for autism, the diagnosis of AS is ruled out. However, since Lona Wing reexamined Asperger's original description and noted the similarities between autism and AS, whether autism, especially high-functioning autism (HFA), and AS were the same disorder or not has been controversial. There is no reason why we distinguish HFA from AS with regard to general intervention and social and communication skill training. From a view point of clinical features, cognitive neurophychology and neurobiology, the differentiation between HFA and AS is not clear. There are few reports on outcome in HFA and AS. Whereas, it is suggested that HFA and AS may be different in social problems such as suicide attempt. Researches on the differentiation between HFA and AS are to be needed in future.",0
3,Asperger,"It has been hypothesized that social developmental disorders (SDD) like autism, Asperger's disorder and the social-emotional processing disorder may be associated with prosopagnosic-like deficits in face recognition. We studied the ability to recognize famous faces in 24 adults with a variety of SDD diagnoses. We also measured their ability to discriminate changes in internal facial configuration, a perceptual function that is important in face recognition, and their imagery for famous faces, an index of their facial memory stores. We contrasted their performance with both healthy subjects and prosopagnosic patients. We also performed a cluster analysis of the SDD patients. One group of eight SDD subjects performed normally on all tests of face perception and recognition. The other 16 subjects were impaired in recognition, though most were better than prosopagnosic patients. One impaired SDD subgroup had poor perception of facial structure but relatively preserved imagery, resembling prosopagnosic patients with medial occipitotemporal lesions. Another subgroup had better perception than imagery, resembling one prosopagnosic with bilateral anterior temporal lesions. Overall, SDD subgroup membership by face recognition did not correlate with a particular SDD diagnosis or subjective ratings of social impairment. We conclude that the social disturbance in SDD does not invariably lead to impaired face recognition. Abnormal face recognition in some SDD subjects is related to impaired perception of facial structure in a manner suggestive of occipitotemporal dysfunction. Heterogeneity in the perceptual processing of faces may imply pathogenetic heterogeneity, with important implications for genetic and rehabilitative studies of SDD.","Literature on Asperger's syndrome (AS) has mainly described symptoms that are manifested in boys. Only recently, attention has been paid on the features in AS girls that differ from the typical clinical picture and may complicate the detection of the syndrome. Because AS girls may react passively in general or compensate or hide their difficulties by other abilities, the need for support is not necessarily brought up. In that case this developmental disorder easily remains unrecognized. Recognition of the syndrome at an early stage makes early supportive actions possible.",0
4,Asperger,"Asperger's syndrome (AS) is a new diagnosis in the 10th edition of International Classification of Diseases (ICD-10). AS is closely related to infantile autism and belongs to the so-called pervasive developmental disorders. The characteristics of the disorder are qualitative abnormalities in reciprocal social interaction, restricted and repetitive patterns of behaviour and interests and often motor clumsiness and problems with nonverbal and social aspects of communication. The sex ratio is about eight boys to one girl and the prevalence among schoolage boys is about 0.3%. The abnormalities normally persist into adulthood. Early diagnosis and a combination of social, educational and psychiatric interventions are necessary to relieve the stress on the person with AS and his family. Differential diagnoses and assessment are discussed.","This follow-up study evaluated cognitive and language development in Asperger's disorder (AD) patients diagnosed at the age of 5 to 6 years, with initial complaints of delays in motor or language development in infancy. We evaluated 12 patients (10 males and 2 females) using two intelligence tests:Kyoto Scale of Psychological Development 2001 (K-scale) for those under 6 years, and WISC-III for those over 5-6 years. The cognitive-adaptive area (C-A) of the former test was compared to the performance IQ (PIQ) of the latter test, and the language-social area (L-S) of the former to verbal IQ (VIQ) of the latter. The mean age at the first examination was 3.2 years (range:2.1-4.6 years), and the average age at follow-up was 7.7 years (range:5.3-12.3 years). The average length of follow-up from the initial visit was 5.6 years (range:3.3-8.6 years). During follow-up, the PIQ, VIQ and full scale DQ or IQ (F-DQ/IQ) improved with age. Average scores of the 12 patients at the first examination and last follow-up evaluated by K-scale were:C-A:70.6 (first) and 84.5 (last), L-S:64.8 (first) and 85.8 (last), and F-DQ:68.5 (first) and 84.8 (last). Compared to those with AD, 12 autistic patients with the Kanner type (10 males and 2 females) who visited our clinic during almost the same period, and belonged to almost the same age group, showed average scores at the first examination and last follow-up of:C-A: 61.9 (first) and43.3 (last), L-S:43.0 (first) and43.4 (last), and F-DQ:60.2 (first) and44.5 (last). From these observations, it is apparent that AD patients also showed language delay during infancy, but they improved rapidly between the ages of 4-6 years. This developmental spurt was not seen in autistic patients with the Kanner type.",0
5,Asperger,"The ability to attribute mental states to others ('theory of mind') pervades normal social interaction and is impaired in autistic individuals. In a previous positron emission tomography scan study of normal volunteers, performing a 'theory of mind' task was associated with activity in left medial prefrontal cortex. We used the same paradigm in five patients with Asperger syndrome, a mild variant of autism with normal intellectual functioning. No task-related activity was found in this region, but normal activity was observed in immediately adjacent areas. This result suggests that a highly circumscribed region of left medial prefrontal cortex is a crucial component of the brain system that underlies the normal understanding of other minds.","This study was designed to determine if ToM abilities of children with autism and Asperger syndrome differentiate into Intrapersonal ToM and Social ToM. A battery of Social and Intrapersonal ToM tasks was administered to 39 children with autism and 34 children with Asperger syndrome. For both groups of children, ToM differentiated and Intrapersonal ToM was stronger than Social ToM. This asymmetry was greater for children with autism, whose Social ToM was especially weak. These results support a differentiated, as opposed to integrated, ToM. Moreover, the findings provide a more thorough understanding of the cognitive abilities associated with autism and Asperger syndrome.",0
6,Asperger,"Details are given of a new advanced theory of mind task, developed to approximate the demands of real-life mentalizing in able individuals with autism. Excerpts of films showing characters in social situations were presented, with participants required to answer questions on characters' mental states and on control, nonsocial questions. When compared with control participants, adults with high-functioning autism and Asperger syndrome were most impaired in their ability to answer the questions requiring mind-reading ability. Although the present findings have implications for task modification, such naturalistic, dynamic stimuli are held to offer an important means of studying subtle difficulties in mentalistic understanding.","Autistic Spectrum Disorder (ASD), including Asperger syndrome and autism, is a highly genetic neurodevelopmental disorder. There is a consensus that ASD has a biological basis, and it has been proposed that it is a ""connectivity"" disorder. Diffusion Tensor Magnetic Resonance Imaging (DT-MRI) allows measurement of the microstructural integrity of white matter (a proxy measure of ""connectivity""). However, nobody has investigated the microstructural integrity of whole brain white matter in people with Asperger syndrome.",0
7,Asperger,"To study the personality characteristics of adults with Asperger syndrome, and investigate the value of self-rating personality inventories, we administered the Temperament and Character Inventory (TCI) to 31 outpatients with Asperger syndrome. The TCI is a self-rating personality inventory that has been validated in the Swedish general population. The results were compared with age- and sex-matched norm groups. Participants with Asperger syndrome scored significantly higher on harm avoidance and lower on self-directedness and cooperativeness. Reward dependence and novelty seeking tended to be low. They also had significantly higher rarity scores, reflecting idiosyncratic perspectives. The most common temperament configurations were 'obsessional', 'passive-dependent' and'explosive'. Character, reflecting conceptual maturity, was poorly developed in the majority of our subjects. The self-ratings of persons with Asperger syndrome thus indicated anxious personalities with coping difficulties in the areas of social interaction and self-directedness, a picture corresponding to the clinical descriptions of Asperger syndrome.","The aim of the study was to validate the German version of the Australian Scale for Asperger's Syndrome (ASAS). Furthermore, the scoring of the ASAS as applied by the Australian authors was verified.",0
8,Asperger,"Eighty children, 3-17 years of age, with autism or Asperger syndrome and mild to severe distress in the presence of some sounds, were randomly allocated to two groups. The experimental group received auditory training and the control group listened to the same unmodified music under the same conditions. Significant improvements in behavior and severity of autism were maintained for 12 months by both groups. Informal data suggested that a range of abnormal responses to sound and other sensory abnormalities may also have improved. Verbal and performance IQ increased significantly 3 to 12 months after interventions. Findings suggest that some aspect of both auditory training and listening to selected unmodified music may have a beneficial effect on children with autism and sound sensitivity, and indicate a need for further research into the effects that led to these changes and the mechanisms involved in the sensory abnormalities commonly associated with autism.","Motor dysfunction is common to both autism and Asperger syndrome, but the underlying neurophysiological impairments are unclear. Neurophysiological examinations of motor dysfunction can provide information about likely sites of functional impairment and can contribute to the debate about whether autism and Asperger syndrome are variants of the same disorder or fundamentally distinct neurodevelopmental conditions. We investigated the neurophysiology of internally determined motor activity in autism and Asperger syndrome via examination of movement-related potentials (MRPs).",0
9,Asperger,"Autism is heterogeneous with respect to clinical symptoms and etiology. To sort out this heterogeneity in autism, we investigated whether specific neurobiological markers vary in parallel to core symptomatology. Specifically, we assessed growth hormone response to the 5-HT 1d agonist, sumatriptan, and linked this measure of serotonergic function to the severity of repetitive behaviors in adult autistic patients. Eleven adult patients with autism or Asperger's disorder were randomized to single dose sumatriptan (6 mg SQ) and placebo challenges, separated by a one-week interval. In adult autistic disorders, severity of repetitive behaviors at baseline, as measured by YBOCS-compulsion score, significantly positively correlated with both peak delta growth hormone response and area under the curve growth hormone response to sumatriptan. Thus, the severity of a specific behavioral dimension in autism (repetitive behaviors) parallels the sensitivity of the 5-HT 1d receptor, as manifest by sumatriptan elicited GH response.","Memory for action is enhanced if individuals are allowed to perform the corresponding movements, compared to when they simply listen to them (enactment effect). Previous studies have shown that individuals with Autism Spectrum Disorders (ASD) have difficulties with processes involving the self, such as autobiographical memories and self performed actions. The present study aimed at assessing memory for action in Asperger Syndrome (AS). We investigated whether adults with AS would benefit from the enactment effect when recalling a list of previously performed items vs. items that were only visually and verbally experienced through three experimental tasks (Free Recall, Old/New Recognition and Source Memory). The results showed that while performance on Recognition and Source Memory tasks was preserved in individuals with AS, the enactment effect for self-performed actions was not consistently present, as revealed by the lower number of performed actions being recalled on the Free Recall test, as compared to adults with typical development. Subtle difficulties in encoding specific motor and proprioceptive signals during action execution in individuals with AS might affect retrieval of relevant personal episodic information. These disturbances might be associated to an impaired action monitoring system.",0
0,Emotional disorders,"Duodenal ulcer cure, as a systemic gastroenterologic disease, can be achieved in some patients by the addition of the nootropic drug piracetam to current antisecretory and antihelicobacter therapy. Piracetam corrects vegetative and psychoemotional disorders in duodenal ulcer, normalizes gastric motility, has an antioxidant effect and improves cerebral circulation. An optimal effect on clinico-endoscopic manifestations of recurrent duodenal ulcer was achieved in combination of piracetam with current antisecretory (omeprazole) and antihelicobacter (de-nol, amoxicillin, metronidazole) medicines. Such combination improves both short- and long-term outcomes of duodenal ulcer treatment.","Depression frequently develops in multiple sclerosis (MS) patients, exacerbating the manifestations of the disease and making its management challenging. To date, no consensus has been reached regarding effective treatments for these sufferers due to limited understanding regarding the underlying mechanisms responsible for emotional disorders that are highly comorbid with this disease. There is an urgent need to rethink current treatment options for these patients. This article aims to optimize the treatment outcomes and improve the quality of life for MS patients. Based on an in-depth and critical review of the current literature, we provide a neurorehabilitative framework that explains possible regulatory mechanisms underlying the emotional symptoms highly developed in MS. This article offers practical knowledge and therapeutic strategies to optimize the treatment options in the current care system for MS, as well as for other disabling diseases. ",-1
1,Emotional disorders,"The immunological (lymphocyte blast transformation with PHA, determination of IgA, IgM, IgG), cytochemical (the mean cytochemical index of neutrophil lipids, glycogen, peroxidase content), hematological (the leukocyte, lymphocyte and neutrophil counts), and biochemical tests were employed to study immune responsiveness in 108 patients with chronic non-calculous cholecystitis running a refractory relapsing course. The patients showed the signs of immune deficiency. Some of the above described tests turned out informative for detecting such deficiency. It has been demonstrated that conventional therapy does not provide any stable clinical effect, aggravating the manifestations of immune deficiency. The introduction into the complex of treatment measures of diphenhydramine, saparal and levamisole, in particular, favoured more rapid elimination of the clinical symptoms of a relapse, of allergic reactions, psychoemotional disorders and reduced the signs of a decrease in immune responsiveness in patients with chronic non calculous cholecystitis running a refractory relapsing course.","This review discusses the importance of the main psychosocial risk factors in the development of chronic non-communicable diseases. The current data on the prevalence of anxiety and depressive disorders in patients with cardiovascular diseases (CVD) are presented. The article summarizes information about the relationship between the development of psychoemotional disorders and CVD, discusses the prospects for the management of such patients in the framework of interdisciplinary cooperation. The main pathogenetic mechanisms of the development of complications, including damage to the central nervous system during infection with a new coronavirus infection, are considered. The significance of the choice of pathogenetic therapy for patients with comorbid somatic and mental diseases in the conditions of a pandemic of a new coronavirus infection is assessed. The results of multicenter placebo-controlled studies on the use of fluvoxamine in patients with a new coronavirus infection of varying severity are discussed.",0
2,Emotional disorders,"This study describes a non-pharmacological treatment modality for children with trichotillomania. Three children with trichotillomania were treated using a hypnotherapy technique. All patients were observed in the outpatient clinic for 8 consecutive weeks and subsequently followed for 12-18 months. All children were cooperative in performing the hypnotherapy technique (relaxation/mental imagery). Two patients reported complete resolution of their complaints after 7-8 weeks and 1 patient after 16 weeks. The latter, reporting recurrence of the complaint after 4 weeks due to stressful school problems, was resolved after successful retreatment over 3 weeks. During a mean follow-up period of 16 months, there were no recurrences. In conclusion, hypnotherapy may be considered as a primary treatment modality for trichotillomania in children without associated emotional disorders.","Interpretation bias is a crucial therapeutic target in emotional disorders. However, few studies have examined the role of interpretation bias in substance use disorders (SUDs). Our specific aims were: (1) to examine whether interpretation bias was associated with craving and abstinence self-efficacy, and (2) explore potential moderators of these associations, including anxiety severity, sex, and substance type.",0
3,Emotional disorders,"Fifty four children were studied 1-14 (mean 5.6) years after fabrications of illness had been identified. Thirty of the 54 children were living in families with their biological mothers and 24 were with other family members or in substitute families. Further fabrications were identified for 10 children who had been living with their mothers and there were 'other concerns' for a further eight children. Thirteen children residing with mother and 14 not residing with mother at follow up had a range of disorders including conduct and emotional disorders, and problems related to school, including difficulties in attention and concentration and non-attendance. Overall, 20 children (49% of those successfully followed up) had outcomes that were considered to be unacceptable.","Structural models of emotional disorders propose that anxiety disorders can be classified into fear and distress disorders. Sources of evidence for this distinction come from genetic, self-report and neurophysiological data from adults. The present study examined whether this distinction relates to cognitive processes, indexed by attention bias towards threat, which is thought to cause and maintain anxiety disorders.",0
4,Emotional disorders,"A retrospective and longitudinal study was carried out on all children and adolescents who presented to a child psychiatry service over a period of 26 years to identify the nature, course, and outcome of cases meeting criteria for anorexia nervosa (n = 27). Two groups of the same age were identified for comparison, firstly those with food avoidance and emotional disorders (n = 23), and secondly those with emotional disorders but no symptoms associated with eating (n = 22). The results confirm previous reports that early onset anorexia nervosa shows a similar nature, course, and outcome to the adult disease. Being tall at presentation seems to be associated with a poor outcome. Self starvation of early onset may result in short stature in some cases. There seem to be more boys among the group in whom the disease was of early onset than would be predicted from the sex ratio among adult patients. In addition boys with anorexia nervosa may have a better prognosis than girls. Children with food avoidance emotional disorders seem to have a worse prognosis than expected for childhood emotional disorders. They may represent a middle group between those with anorexia nervosa and those with emotional disorders but no symptoms associated with eating.","  To investigate whether bullying and psychological conditions are correlated,
this study analyzed a survey of primary and secondary school students from
Zigong City, Sichuan Province. A total of 95,545 students completed a personal
information questionnaire, the Multidimensional Peer-Victimization Scale
(MPVS), and eight other scales pertaining to various psychological problems.
The data showed that 68,315 (71.5\%) participants experienced school bullying
at varying degrees, indicating the prevalence of bullying among adolescents.
The chi-square tests revealed a strong correlation between school bullying and
psychological conditions. This correlation was further explored through
multivariate logistic regression, showing that students who experienced mild
bullying had a 3.10 times higher probability of emotional and behavioral
problems, 4.06 times higher probability of experiencing prodromal symptoms of
mental illness, 4.72 times higher probability of anxiety, 3.28 times higher
probability of developing post-traumatic stress disorder (PTSD) , 4.07 times
higher probability of poor sleep quality, 3.13 times higher probability of
internet addiction, 2.18 times higher probability of poor mental health, and
3.64 times higher probability of depression than students who did not
experience bullying. The corresponding probabilities for students who
experienced severe bullying were 11.35, 17.35, 18.52, 12.59, 11.67, 12.03,
4.64, and 5.34 times higher, respectively. In conclusion, school bullying and
psychological conditions are significantly correlated among primary and
secondary school students, and the more severe the bullying, the higher the
probability to suffer from psychological problems.
",-1
5,Emotional disorders,"A total of 232 (84%) first episodes of schizophrenia from our epidemiologically defined ABC sample (Age, Beginning and Course) were retrospectively assessed with regard to the onset and early course of the disorder. In a follow-up study a representative subgroup (n = 133) was prospectively examined in five cross sections over 3 years from first admission on. Population-based incidence rates for 5-year age groups comprising a range of < 10 - < 60 years were calculated on the basis of two definitions of onset: first sign of disorder and first psychotic symptom. In 40% of adult patients who had been admitted with a first schizophrenic episode after age 20 years the prodromal phase, in 11% the psychotic prephase, began before that age. This demonstrates that schizophrenia often begins in an age period in which the social and cognitive development and brain maturation are still unfinished. Early-onset schizophrenias (< or = 20 years) were compared with a medium-onset group (21 - < 35 years) and a late-onset group (35 - < 60 years) with regard to age and type of onset, early symptom-related course, social development and social course. The number of schizophrenia-specific positive and negative syndromes in early-onset schizophrenia is comparable to that of higher age groups. However, neurotic syndromes, emotional disorders and conduct disorders are most frequent in younger patients, especially in young men. Paranoid syndromes seem to prevail in late-onset schizophrenia, whereas less differentiated positive syndromes, such as delusional mood, are more frequent in the youngest age group. An earlier onset of schizophrenia has more severe social consequences than onset in adults, because it interrupts the cognitive and social development at an earlier stage. The worse social course of schizophrenia in men compared with women cannot be related to a more severe symptomatology, but to the earlier age at onset and the impairment or stagnation of social ascent at an earlier stage of social and cognitive development. Social disability in the sense of an adaptation to the expectations of the social environment, as well as symptomatology during the further course of schizophrenia, show no major differences between the genders nor between the age groups.","Transdiagnostic group cognitive behavior therapy (TD-GCBT) has shown to be efficacious in the treatment of emotional disorders in primary care. However, little is known about possible moderators or predictors of treatment outcome. We aimed to explore the potential predictors and moderators of outcome in a large multicentre randomized controlled trial comparing TD-GCBT plus treatment as usual (TAU) to TAU alone.",0
6,Emotional disorders,"To examine the reliability and validity of the 66-item Screen for Child Anxiety Related Emotional Disorders-Revised (SCARED-R), a questionnaire for measuring a broad range of DSM-defined anxiety disorder symptoms, in a sample of clinically referred youths.","Sleep apnea (SA) causes not only sleep disturbances, but also neurocognitive impairments and/or psychoemotional disorders. Here, we studied the effects of intermittent hypoxia (IH) on forebrain Fos expression using obese diabetic db/db mice to explore the pathophysiological alterations in neural activities and the brain regions related to SA syndrome. Male db/db mice were exposed to IH stimuli (repetitive 6-min cycles of 1min with 5% oxygen followed by 5min with 21% oxygen) for 8h (80 cycles) per day or normoxic condition (control group) for 14 days. Fos protein expression was immunohistochemically examined a day after the last IH exposure. Mapping analysis revealed a significant reduction of Fos expression by IH in limbic and paralimbic structures, including the cingulate and piriform cortices, the core part of the nucleus accumbens and most parts of the amygdala (i.e., the basolateral and basomedial amygdaloid nuclei, cortical amygdaloid area and medial amygdaloid nucleus). In the brain stem regions, Fos expression was region-specifically reduced in the ventral tegmental area while other regions including the striatum, thalamus and hypothalamus, were relatively resistant against IH. In addition, db/db mice exposed to IH showed a trend of sedative and/or depressive behavioral signs in the open field and forced swim tests. The present results illustrate that SA in the obese diabetic model causes neural suppression preferentially in the limbic and paralimbic regions, which may be related to the neuropsychological disturbances associated with SA. ",-1
7,Emotional disorders,"There are no generally accepted classification schemes for motivational and emotional disorders. One of the reasons is the difficulty in isolating motivational and emotional disorders from complex behaviors. Therefore, terms which characterize certain behaviors globally, such as clinical syndromes, are preferred in the clinical literature. Another, related reason is that within clinical psychology and the psychology of emotions are treated as two entirely separate fields with hardly any mutual influence. A third reason lies in the diversities of theories and schools of thought where the psychology of emotions as well as clinical psychology are concerned, thus, schemes, based on a general framework which is grounded in research in ""Cognitiver Science"" and general psychology, were developed which enable the comprehensive classification of motivational and emotional disorders, irrespective of individual therapeutic schools of thought or emotion-theoretic orientations. From the classification schemes, diagnostic criteria can be derived. This is the topic of Part I. In Part II it is demonstrated how these schemas can be applied to the comparison of different therapeutic schools with respect to theories of motivational and emotional disorders. Moreover, it is shown, how these ideas can be used to derive strategies for therapeutic interventions.","Considerable previous research has shown that retrieval of overgeneral autobiographical memories (OGM) is elevated among individuals suffering from various emotional disorders and those with a history of trauma. Although previous theories suggest that OGM serves the function of regulating acute negative affect, it is also possible that OGM results from difficulties in keeping the instruction set for the Autobiographical Memory Test (AMT) in working memory, or what has been coined ""secondary goal neglect"" (Dalgleish, 2004). The present study tested whether OGM is associated with poor memory for the task's instruction set, and whether an instruction set reminder would improve memory specificity over repeated trials. Multilevel modelling data-analytic techniques demonstrated a significant relationship between poor recall of instruction set and probability of retrieving OGMs. Providing an instruction set reminder for the AMT relative to a control task's instruction set improved memory specificity immediately afterward.",0
8,Emotional disorders,"To assess whether perceived parental care and protection varied according to age and gender of the child and whether they were associated with psychiatric diagnoses, these constructs were measured with the Parental Bonding Instrument in a cohort of non-referred adolescents (n = 762), in a clinically referred cohort (n = 1299), and in a group of adolescents from the referred cohort (n = 365) for whom DSM-III diagnoses were available. Significant differences in parental care and protection according to clinical status, age, gender and diagnosis were found. However, perceived parental affectionless control was not associated with emotional disorders in adolescents, contrary to reports in adult subjects, but with clinical status.","Intolerance of uncertainty (IU) has been identified as a potential maintaining factor for generalised anxiety disorder; however, there is a growing evidence to suggest that IU may contribute to other anxiety and depressive disorders. Moreover, certain components of IU (namely prospective and inhibitory IU) have been shown to be differentially associated with symptoms of emotional disorders. The aim of this study was to determine the extent to which individuals with various anxiety and depressive disorders endorsed IU, firstly as a trait variable (with prospective and inhibitory components) and secondly in reference to regularly occurring, diagnostically relevant situations (situation-specific IU). The degree to which diagnosis predicted IU was examined in a highly comorbid clinical sample (N=218). Regardless of specific diagnoses, the degree of comorbidity emerged as a significant predictor of prospective IU and situation-specific IU. Conversely, specific diagnoses of social phobia, generalised anxiety disorder, depression, and obsessive compulsive disorder were uniquely related to inhibitory IU. These findings suggest that IU is a transdiagnostic construct and have implications for current diagnosis-specific and transdiagnostic theory and clinical practice.",0
9,Emotional disorders,"Presence or the sense of ""being there"" has been discussed in the literature as an essential, defining aspect of Virtual Reality (VR). The VR literature includes definitions rooted in behavioral response, signal detection theory, and philosophy, but has generally ignored the emotional aspects of experience. The purpose of this paper is to reexamine the concept of presence in terms of people's emotional engagement with reality and their environment. Emotions are an essential part of how people experience the world. Any theory of presence must take emotional factors into account. This thesis has implications about how research should be conducted to further our understanding of presence. Validated psychological techniques for assessing emotions by subjective report, behavioral observations, and facial analysis can all be applied to increase our understanding of virtual presence. Further understanding of the interaction between presence and emotional state will improve our understanding of the construct of presence as well as better inform us about how virtual environments can be applied in creating emotional effects or treating emotional disorders.","Preterm birth is associated with a high risk of residual neurodevelopmental disability and cognitive impairment. These problems are closely associated with psychiatric disorders and thus it is unsurprising that preterm birth also confers high risk for poor long term mental health. The risk associated with preterm birth is not a general one, but appears to be specific to symptoms and disorders associated with anxiety, inattention and social and communication problems, and manifest in a significantly higher prevalence of emotional disorders, ADHD and Autism. Adolescence is a key period for mental health and studies have shown that problems evident in childhood persist over this time and are more stable amongst preterm individuals than term-born peers. There is also modest evidence for an increased prevalence of psychotic symptoms in preterm adolescents. The high prevalence of psychiatric disorders, present in around 25% of preterm adolescents, requires long term screening and intervention.",0
0,Autism spectrum disorder,"Common genetic disorders are believed to arise from the combined effects of multiple inherited genetic variants acting in concert with environmental factors, such that any given DNA sequence variant may have only a marginal effect on disease outcome. As a consequence, the correlation between disease status and any given DNA marker allele in a genomewide linkage study tends to be relatively weak and the implicated regions typically encompass hundreds of positional candidate genes. Therefore, new strategies are needed to parse relatively large sets of 'positional' candidate genes in search of actual disease-related gene variants. Here we use biological databases to identify 383 positional candidate genes predicted by genomewide genetic linkage analysis of a large set of families, each with two or more members diagnosed with autism, or autism spectrum disorder (ASD). Next, we seek to identify a subset of biologically meaningful, high priority candidates. The strategy is to select autism candidate genes based on prior genetic evidence from the allelic association literature to query the known transcripts within the 1-LOD (logarithm of the odds) support interval for each region. We use recently developed bioinformatic programs that automatically search the biological literature to predict pathways of interacting genes (PATHWAYASSIST and GENEWAYS). To identify gene regulatory networks, we search for coexpression between candidate genes and positional candidates. The studies are intended both to inform studies of autism, and to illustrate and explore the increasing potential of bioinformatic approaches as a compliment to linkage analysis.","Investigations of autonomic nervous system biomarkers in autism have been sparse relative to its prevalence. Recent studies of children with autism spectrum disorders (ASD) have increasingly drawn correlations between autonomic findings and psychosocial behavior. Studies of heart rate variability, pupil size, salivary alpha-amylase, and electrodermal responsiveness have shown that children with ASD differ from normally developing children in their autonomic responsiveness to visualizing human faces and other mental tasks. While some results have conflicted, much of the data appears to support the theory of a hypersympathetic state in autism insufficiently attenuated by vagal parasympathetic influences. To what degree these differences in autonomic physiology might influence cognitive processing and behavior rather than simply being epiphenomena of a pervasive disorder of brain development is as yet unclear.",0
1,Autism spectrum disorder,"This study compared the neuropsychological test profiles of non-mentally retarded girls and boys consecutively referred to a neuropsychiatric clinic and those of contrast cases of girls from mainstream classrooms of one Göteborg school district. To avoid overreliance on the male prototype with regard to diagnostic criteria the clinical group comprised a mixed sample of girls and boys without diagnostic subgrouping. Clinic girls had a lower IQ than comparison girls. Girls were more impaired than the boys with respect to executive functions and scored less well on theory of mind tasks. Previous studies have shown girls with autism and mental retardation to be more severely affected than boys both with regard to level of intellectual functioning and overall measures of brain dysfunction. The present study indicates that clinic girls with a variety of neuropsychiatric disorders at higher levels of intellectual functioning (some of which met diagnostic criteria for autism spectrum disorder) may also be more severely affected than boys with corresponding types of ""surface"" problems.","Phelan-McDermid Syndrome (PMS) is a rare neurodevelopmental disorder characterized by global developmental delay, autism spectrum disorder, and numerous systemic complications including seizures, gastrointestinal dysfunction, and renal anomalies. The Phelan-McDermid Syndrome Foundation (PMSF) was created to improve the quality of life of people affected by PMS worldwide by supporting families, accelerating research, and raising awareness. To further this mission, the PMSF initiated the Phelan-McPosium in 2016 to bring families affected by PMS, clinicians, and researchers together to design patient-centered rigorous clinical and translational research. Here, we present findings from the 2018 Phelan-McPosium.",0
2,Autism spectrum disorder,"The aim was to explore the comorbidity between Angelman syndrome and autism spectrum disorders (ASDs). Identification of autism in children with Angelman syndrome presents a diagnostic challenge. In the present study, 16 children with Angelman syndrome, all with a 15q11-13 deletion, were examined for ASDs. Thirteen children with Angelman syndrome received an ADOS-G algorithm classification of ASD; the remaining three were outside the autistic spectrum. Ten fulfilled the criteria for autism, and three for PDD-NOS. The 10 children with Angelman syndrome and comorbid autism were compared with eight children with only autism regarding their social and communicative skills. The results indicated that Angelman syndrome is better understood in terms of developmental delay, and autism in terms of developmental deviance. It is concluded that autism might have been overdiagnosed due to the extremely low mental age of the children with Angelman syndrome.","Serotonin syndrome, also known as serotonin toxicity, is associated with increased serotonergic activity in the central and the peripheral nervous system. The symptoms can range from mild to potentially life threatening. Given the widespread use of serotonergic agents, the number of cases is on the rise. It is seen with therapeutic medication use, inadvertent interactions between drugs, and intentional self-poisoning, but still known cases with monotherapy of selective serotonin reuptake inhibitors are uncommon. Another known fact is that elevated whole blood serotonin, or hyperserotonemia, is one of the first biomarkers identified in autism spectrum disorder and is present in more than 25% of affected children. We present a case of a 32-year-old male with a history of autism spectrum disorder and depressive disorder who presented to the emergency department with restless agitation, neuromuscular excitability, and autonomic instability. He had been prescribed sertraline 50?‰mg which he had taken daily as prescribed for 4 days. On the fourth day, he presented to the emergency department with diffuse muscle stiffness, upper extremity tremors, ocular clonus, and inducible ankle clonus. He was diagnosed with probable serotonin syndrome utilizing Hunter's criteria. Patient's symptoms resolved within 24 hours with intravenous fluids, lorazepam, and discontinuation of sertraline. This case highlights the importance of a high degree of clinical suspicion in patients even on monotherapy of selective serotonin reuptake inhibitors in therapeutic doses, especially in children and adults with autism spectrum disorder. Due to preexisting hyperserotonemia, they may be more susceptible to serotonin syndrome than the general population.",0
3,Autism spectrum disorder,"We have evaluated possible contributions of HLA-DRB1 alleles to autism spectrum disorder (ASD) in 103 families of Caucasian descent. The DR4 allele occurred more often in probands than controls (0.007), whereas the DR13,14 alleles occurred less often in probands than controls (p = 0.003). The transmission disequilibrium test (TDT) indicated that the ASD probands inherited the DR4 allele more frequently than expected (p = 0.026) from the fathers. The TDT also revealed that fewer DR13 alleles than expected were inherited from the mother by ASD probands (p = 0.006). We conclude that the TDT results suggest that DR4 and DR13 are linked to ASD. Reasons for the parental inheritance of specific alleles are poorly understood but coincide with current genetic research noting possible parent-of-origin effects in autism.","Little research has been conducted on whether deficits in developmental functioning affect the range of core symptoms for autism spectrum disorders (ASD). This study represents a first attempt to determine whether developmental level has an effect on the expression of ASD symptoms in infants and toddlers. Eight hundred and fifty-three infants were evaluated with respect to the nature and extent of their ASD symptoms and developmental functioning. Young children with autism displayed a higher number of symptoms than those with PDD-NOS on all three domains of impairment (social, communication, repetitive behaviors). As expected, children without an ASD evinced far fewer symptoms than both these groups. Developmental level was not found to be a moderator for expression of ASD symptoms for the entire sample, or individual diagnostic groups. Higher developmental level was associated with lower severity of evinced ASD symptoms in the sample.",0
4,Autism spectrum disorder,"To review the association of autism spectrum disorder (ASD) in individuals manifesting thalidomide embryopathy and Möbius sequence and compare them with three new studies in which ASD was also associated with ocular and systemic malformations: (1) a Swedish study of individuals with CHARGE association (Coloboma, Heart, choanal Atresia, developmental or growth Retardation, Genital anomaly, and Ear involvement); (2) a Swedish study of Goldenhar syndrome; and (3) Brazilian Möbius syndrome (sequence) study.",Early identification of autism spectrum disorder (ASD) is associated with improved cognitive and behavioral outcomes. Targeted strategies are needed to support equitable access to diagnostic services to ensure that children from low-income and racial/ethnic minority families receive the benefits of early ASD identification and treatment.,0
5,Autism spectrum disorder,"A tendency to focus on details at the expense of configural information, 'weak coherence', has been proposed as a cognitive style in autism. In the present study we tested whether weak coherence might be the result of executive dysfunction, by testing clinical groups known to show deficits on tests of executive control. Boys with autism spectrum disorders (ASD) were compared with age- and intelligence quotient (IQ)-matched boys with attention-deficit/hyperactivity disorder (ADHD), and typically developing (TD) boys, on a drawing task requiring planning for the inclusion of a new element. Weak coherence was measured through analysis of drawing style. In line with the predictions made, the ASD group was more detail-focused in their drawings than were either ADHD or TD boys. The ASD and ADHD groups both showed planning impairments, which were more severe in the former group. Poor planning did not, however, predict detail-focus, and scores on the two aspects of the task were unrelated in the clinical groups. These findings indicate that weak coherence may indeed be a cognitive style specific to autism and unrelated to cognitive deficits in frontal functions.","Limited research exists regarding the role of teachers in screening for Autism Spectrum Disorders (ASD). The current study examined the use of the Social Communication Questionnaire (SCQ) and Social Responsiveness Scale (SRS) as completed by parents and teachers about school-age children from the Simons Simplex Collection. Using the recommended cutoff scores in the manuals and extant literature, the teacher-completed SCQ and SRS yielded lower sensitivity and specificity values than would be desirable; however, lowering the cutoff scores on both instruments improved sensitivity and specificity to more adequate levels for screening purposes. Using the adjusted cutoff scores, the SRS teacher form appears to be a slightly better screener than the SCQ. Implications and limitations are discussed, as well as areas for future research.",0
6,Autism spectrum disorder,"The plasma amino acid profiles of 36 children with autism spectrum disorders were reviewed to determine the impact of diet on amino acid patterns. Ten of the children were on gluten and casein restricted diets administered by parents, while the other 26 consumed unrestricted diets. No amino acid profile specific to autism was identified. However, children with autism had more essential amino acid deficiencies consistent with poor protein nutrition than an age/gender matched control group. There was a trend for children with autism who were on restricted diets to have an increased prevalence of essential amino acid deficiencies and lower plasma levels of essential acids including the neurotransmitter precursors tyrosine and tryptophan than both controls and children with autism on unrestricted diets. These data indicate that larger, more focused studies of protein nutrition in children with autism are needed in order to determine the extent to which restricted diets might place the developing brains of children with autism at risk from protein malnutrition. The high rate of tryptophan and tyrosine deficiency in this group is also of concern given their role as neurotransmitter precursors.","Autism spectrum disorders (ASDs) are pervasive neurodevelopmental disorders, diagnosed in early childhood when acquired skills are lost or the acquisition of new skills becomes delayed. ASDs are associated with varying degrees of dysfunctional communication and social skills, in addition to repetitive and stereotypic behaviors. The diagnosis has increased considerably to approximately one in 180 people, but it is not clear whether this is because of a higher prevalence of the disorder, improved awareness by clinicians or a combination of both. There are no defined mechanisms of pathogenesis or curative therapy presently available. Oxidative stress, overactivation of the hypothalamic-pituitary-adrenal axis and increased gut-blood-brain-barrier permeability might be involved. The scope of this article is to integrate these findings and present the opinion that non-allergic activation of gastrointestinal and brain mast cells could contribute to many of the pathologic findings and provide unique targets for ASD therapy. We make suggestions for new research directives and possible novel therapies from readily available molecules.",0
7,Autism spectrum disorder,"Tuberous sclerosis is one of the few established medical causes of autism spectrum disorder and is a unique neurogenetic model for testing theories about the brain basis of the syndrome. We conducted a retrospective case study of the neuro-epileptic risk factors predisposing to autism spectrum disorder in individuals with tuberous sclerosis to test current neurobiological theories of autism spectrum disorder. We found that an autism spectrum disorder diagnosis was associated with the presence of cortical tubers in the temporal but not other lobes of the brain. Indeed, the presence of tubers in the temporal lobes appeared to be a necessary but not sufficient risk factor for the development of an autism spectrum disorder. However, contrary to the predictions of some theories, the location of tubers in specific regions of the temporal lobe, such as the superior temporal gyrus or the right temporal lobe, did not determine which individuals with temporal lobe tubers developed an autism spectrum disorder. Instead, outcome was associated with various indices of epileptic activity including evidence of temporal lobe epileptiform discharges on EEG, the age to onset of seizures in the first 3 years of life and a history of infantile spasms. The results indicated that individuals with tuberous sclerosis are at very high risk of developing an autism spectrum disorder when temporal lobe tubers are present and associated with temporal lobe epileptiform discharges and early-onset, persistent spasm-like seizures. These risk markers constitute useful clinical indicators of prognosis, but further research is required to identify the neurobiological mechanisms responsible for their association with outcome. Most especially, it will be important to test whether, as the findings suggest, there is a critical early stage of brain maturation during which temporal lobe epilepsy perturbs the development of brain systems that underpin 'social intelligence' and possibly other cognitive skills, thereby inducing an autism spectrum disorder.","Restricted and repetitive patterns of behaviours, interests, or activities are a critical diagnostic criterion for autism spectrum disorder (ASD). Previous studies using gambling paradigms with ASD populations have identified that, unlike typically developed control participants, people with a diagnosis of ASD tend to maintain particular response patterns regardless of the magnitude of potential outcomes to uncertain gains or losses. Here we designed a gambling test that permitted calculation of the response consistency in gambling choices in situations that presented varying expected outcomes in terms of gains or losses. The task was administered to 33 adults with a diagnosis of ASDs and compared to a group of 47 typically-developed (TD) control participants who were matched for age and IQ. When presented with choices where participants could either make a risky gamble or a safe choice in terms of gains or losses (e.g., 20% chance of winning ÂŁ5 vs. 100% chance of winning ÂŁ1), the ASD participants did not differ from the TDs in their overall risk-taking behaviour. However, they were more consistent in their individual choices from trial to trial. Furthermore, the proportion of participants who either implemented an invariate response strategy (e.g., either always choosing the most risky or most ""safe"" option) was significantly higher in the ASD group compared with the controls. Additionally, while the ASD group were slower to make their responses in the win frame and the first half of the lose frame, by the end of the task their decision times were the same as the TD controls. These findings suggest that the ASD tendency towards repetitive behaviour may demonstrate itself even in high-level decision-making tasks, which needs to be understood if we are to be sure what such tasks are measuring.",0
8,Autism spectrum disorder,"Serial sexual homicide has been the object of intensive study from forensic psychiatric, criminological, developmental, and sociological perspectives. In contradistinction to these approaches, neuropsychiatric concepts and methods have received relatively little attention in this area. In this article we adopt a neuropsychiatric developmental perspective and undertake a review of the psychiatric literature on violence and autism spectrum disorders. Our analysis of this literature suggests the presence of an association between autism spectrum psychopathology and serial homicidal behavior. Recommendations for further research to help clarify the nature of this association are briefly discussed.",A subset of individuals with autism spectrum disorder (ASD) and macrocephaly carry mutations in the gene ,0
9,Autism spectrum disorder,"The item, total, and subscale scores on the Autism Behavior Checklist (ABC) were compared for 155 mute and 335 speaking individuals with autism spectrum disorders. Although no significant difference was observed between the groups on the ABC total score, the mute group demonstrated significantly more pathology on 21 of 57 items and 3 of 5 subscales. The speaking group obtained significantly higher scores on only 8 items and 1 subscale (Language). The appropriateness of providing greater pathology scores on expressive language items to speaking, rather than to mute, individuals is called into question. The authors speculate whether the expressive language items are weighted too heavily, in regard both to the Language subscale and to the ABC total score. If the expressive language items were removed, the mute group would have significantly higher ABC total scores and therefore a greater degree of autism severity.","Autism Spectrum Disorder (ASD) is characterized by impairments in social interaction, social communication, and repetitive and stereotyped behaviors. Recent work has begun to explore gene??— environmental interactions in the etiology of ASD. We previously reported that prenatal stress exposure in stress-susceptible heterozygous serotonin transporter (SERT) KO pregnant dams in a mouse model resulted in autism-like behavior in the offspring (SERT/S mice). The association between prenatal stress and ASD appears to be affected by maternal SERT genotype in clinical populations as well. Using the mouse model, we examined autistic-like behaviors in greater detail, and additionally explored whether diet supplementation with docosahexaenoic acid (DHA) may mitigate the behavioral changes. Only male SERT/S mice showed social impairment and stereotyped behavior, and DHA supplementation ameliorated some of these behaviors. We also measured monoamine levels in the SERT/S mice after three treatment paradigms: DHA-rich diet continuously from breeding (DHA diet), DHA-rich diet only after weaning (CTL/DHA diet) and control diet only (CTL diet). The dopamine (DA) content in the striatum was significantly increased in the SERT/S mice compared with wild-type (WT) mice, whereas no difference was observed with noradrenaline and serotonin content. Moreover, DA content in the striatum was significantly reduced in the SERT/S mice with the DHA-rich diet provided continuously from breeding. The results indicate that autism-associated behaviors and changes in the dopaminergic system in this setting can be mitigated with DHA supplementation.",0
0,Dementia,"A rating scale measuring care status related to assistance with basic ADL for demented patients was developed. This instrument, named the ABCD, is designed to be completed by family and professional caregivers, and consists of two subscales assessing the level of difficulty of help with the ADL (difficulty scale) and the reasons why assistance is needed (reason category). In the difficulty scale, each of 6 items is rated with 4 possible responses corresponding to the degree of physical assistance from the caregiver and of the patient's cooperation with the assistance. In the reason category, for 5 activities excluding voiding, the reason is assessed with the following three possible responses: A; physical disability, B; disability in motivation and/or so-called apraxia, C; a combination of A and B. The ABCD was administered to 124 outpatients and 203 inpatients with dementia based on the DSM III-R criteria in order to test its reliability and validity. The data from the out- and inpatient samples were analyzed separately. The reliability study of the two subscales based on calculation of perfect agreement rates and kappa values indicated high test-retest and inter-rater reliability for both samples. The Cronbach alpha values of the difficulty scale were also high. As to the validity of the difficulty scale, there was a significantly high correlation between the score obtained with this scale and the results of two established assessment instruments. For the outpatients, logistic regression analysis revealed that the score obtained with this scale was the only predictor of institutionalization and mortality within 1 year after the baseline examination.(ABSTRACT TRUNCATED AT 250 WORDS)","The blood-brain barrier (BBB) is a continuous endothelial membrane within brain microvessels that has sealed cell-to-cell contacts and is sheathed by mural vascular cells and perivascular astrocyte end-feet. The BBB protects neurons from factors present in the systemic circulation and maintains the highly regulated CNS internal milieu, which is required for proper synaptic and neuronal functioning. BBB disruption allows influx into the brain of neurotoxic blood-derived debris, cells and microbial pathogens and is associated with inflammatory and immune responses, which can initiate multiple pathways of neurodegeneration. This Review discusses neuroimaging studies in the living human brain and post-mortem tissue as well as biomarker studies demonstrating BBB breakdown in Alzheimer disease, Parkinson disease, Huntington disease, amyotrophic lateral sclerosis, multiple sclerosis, HIV-1-associated dementia and chronic traumatic encephalopathy. The pathogenic mechanisms by which BBB breakdown leads to neuronal injury, synaptic dysfunction, loss of neuronal connectivity and neurodegeneration are described. The importance of a healthy BBB for therapeutic drug delivery and the adverse effects of disease-initiated, pathological BBB breakdown in relation to brain delivery of neuropharmaceuticals are briefly discussed. Finally, future directions, gaps in the field and opportunities to control the course of neurological diseases by targeting the BBB are presented.",0
1,Dementia,"Nicotinic acetylcholine receptors have been found to be important for maintaining optimal performance on a variety of cognitive tasks. In humans, nicotine-induced improvement of rapid information processing is particularly well documented. In experimental animals nicotine has been found to improve learning and memory on a variety of tasks, while the nicotinic antagonist mecamylamine has been found to impair memory performance. Nicotine has been found to be effective in attenuating memory deficits resulting from lesions of the septohippocampal pathway or aging in experimental animals. Nicotinic receptors are decreased in the cortex of patients with Alzheimer's disease. Preliminary studies have found that some aspects of the cognitive deficit in Alzheimer's disease can be attenuated by nicotine. Nicotine may prove to be useful therapeutic treatment for this and other types of dementia.","Diogenes syndrome (DS) is an acquired behavioural disturbance more often affecting elderly patients, but possible in all ages. It is characterised by social withdrawal, extreme self and house neglect, tendency to hoard any kind of objects/rubbish (syllogomania), and rejection against external help for lack of concern about one's condition. It is considered infrequent, but with quite high mortality. DS might be divided into several forms including Active (the patient gathers objects outside and accumulates them inside his house), Passive (patient invaded by his own rubbish), ""Ă  deux"" (DS sharing between two people), and ""under-threshold"" (DS ""blocked"" by precocious intervention). Four cases are here presented. In case 1 (passive DS) alcoholism and cognitive impairment could be trigger factors for DS, predisposed by a ""personality alteration"". In case 2 (active, ""Ă  trois"") superimposed psychosis could be the trigger, borderline intelligence being the predisposing factor. In case 3 (active), fronto-parietal internal hyperostosis might support an organic aetiology. Finally, case 4 was an example of isolated syllogomania in patient with evolving Alzheimer's dementia. Despite being heterogeneous, our casuistry suggest that DS can develop in both sexes, is prevalent in geriatric age and often associated with cognitive impairment/psychiatric disturbances, which are not specific, nor sufficient to justify DS. Isolated syllogomania only shares the characteristic hoarding with DS; although cognitive impairment might be present, the other DS typical aspects (social isolation, help refusal, characterial aspects, personal hygiene neglect) are absent. ",0
2,Dementia,"Recent studies have shown that the neurodegenerative process in disorders with Lewy body formation, such as Parkinson's disease and dementia with Lewy bodies, is associated with alpha-synuclein accumulation and that beta-synuclein might protect the central nervous system from the neurotoxic effects of alpha-synuclein. However, the mechanisms are unclear. The main objective of the present study was to investigate the potential involvement of the serine threonine kinase Akt (also known as protein kinase B) signaling pathway in the mechanisms of beta-synuclein neuroprotection. For this purpose, Akt activity and cell survival were analyzed in synuclein-transfected B103 neuroblastoma cells and primary cortical neurons. Beta-synuclein transfection resulted in increased Akt activity and conferred protection from the neurotoxic effects of rotenone. Down-regulation of Akt expression resulted in an increased susceptibility to rotenone toxicity, whereas transfection with a lentiviral vector encoding for beta-synuclein was protective. The effects of beta-synuclein on the Akt pathway appear to be by direct interaction between these molecules and were independent of upstream signaling molecules. Taken together, these results indicate that the mechanisms of beta-synuclein neuroprotection might involve direct interactions between beta-synuclein and Akt and suggest that this signaling pathway could be a potential therapeutic target for neurological conditions associated with parkinsonism and alpha-synuclein aggregation.","Obesity is a major health problem, increasing the risk of various major chronic diseases, such as diabetes, cancer, and stroke. While the role of obesity identified by cross-sectional BMI recordings has been heavily studied, the role of BMI trajectories is much less explored. In this study, we use a machine learning approach to subtype individuals' risk of developing 18 major chronic diseases by using their BMI trajectories extracted from a large and geographically diverse EHR dataset capturing the health status of around two million individuals for a period of six years. We define nine new interpretable and evidence-based variables based on the BMI trajectories to cluster the patients into subgroups using the k-means clustering method. We thoroughly review each cluster's characteristics in terms of demographic, socioeconomic, and physiological measurement variables to specify the distinct properties of the patients in the clusters. In our experiments, the direct relationship of obesity with diabetes, hypertension, Alzheimer's, and dementia has been re-established and distinct clusters with specific characteristics for several of the chronic diseases have been found to be conforming or complementary to the existing body of knowledge.",0
3,Dementia,"Creutzfeldt-Jacob disease manifests clinically as a form of presenile dementia. It is now known to be caused by a transmissible agent, probably a ""slow virus"". Rapidly progressive atrophic changes on serial computed tomograms of the brain are highly suggestive of the disease. Neuroradiographic and pathological findings in two cases of Creutzfeldt-Jacob disease are documented.","The number of older adults with dementia will increase around the world in the decades ahead as populations age. Current estimates suggest that about 4.2 million adults in the US have dementia and that the attributable economic cost of their care is about $200 billion per year. The worldwide dementia prevalence is estimated at 44.3 million people and the total cost at $604 billion per year. It is expected that the worldwide prevalence will triple to 135.5 million by 2050. However, a number of recent population-based studies from countries around the world suggest that the age-specific risk of dementia may be declining, which could help moderate the expected increase in dementia cases that will accompany the growing number of older adults.",0
4,Dementia,"Increased sexual activity in patients with dementia is problematic for caregivers and has no proven treatment. This report describes two male patients who had dementia with pronounced sexual acting out. One patient had vascular dementia and the other patient had Parkinson's disease with associated dementia. After nonresponse to neuroleptics and sedatives, low-dose cyproterone acetate successfully reduced sexual acting out without relevant side effects in both patients.","Primary progressive aphasia (PPA) is a dementia syndrome associated with several neuropathologic entities, including Alzheimer's disease (AD) and all major forms of frontotemporal lobar degeneration (FTLD). It is classified into subtypes defined by the nature of the language domain that is most impaired. The asymmetric neurodegeneration of the hemisphere dominant for language (usually left) is one consistent feature of all PPA variants. This feature offers unique opportunities for exploring mechanisms of selective vulnerability in neurodegenerative diseases and the neuroanatomy of language. This chapter reviews some of the current trends in PPA research as well as the challenges that remain to be addressed on the nosology, clinicopathologic correlations, and therapy of this syndrome.",0
5,Dementia,"We report transient dementia in a 71-year-old woman, that was caused by hyperthyroidism of painless thyroiditis. Her friends, who found her very forgetful and performing abnormal behavior, brought her to our hospital. She looked alert and cooperative. There was neither goiter nor pain of the thyroid. Neurological examination revealed impairment of recent memory with a low score of memory test (MMSE: 20/30) indicating mild dementia. EEG showed slow alpha waves (8 Hz) with random theta and delta waves in the frontotemporal regions bilaterally. MRI showed mild diffuse atrophy of the brain, and SPECT revealed diffuse decrease in the cerebral blood flow most predominantly in the frontotemporal regions bilaterally. Abnormal findings included low levels of thyroid stimulating hormone (TSH), high levels of free triiodothyronine and free thyroxine. Antithyrogloblin antibody was positive and TSH receptor antibody was negative, while CRP was normal. Radioactive Tc uptake of the thyroid gland was low. A diagnosis of painless thyroiditis was made. Thyroid function turned to euthyroid state spontaneously in four weeks without antithyroid therapy, and subsequently memory disturbance and abnormal behavior disappeared. SPECT after clinical recovery showed improvement in the cerebral blood flow of the frontotemporal lobes. To our knowledge, dementia-like symptoms secondary to hyperthyroidism of painless thyroiditis have not been reported previously, and should be kept in mind as one of the causes of treatable dementia.","Alzheimer's disease (AD) is the most common type of dementia occurring in human population. The disorder is characterized clinically by memory loss and histopathologically by the presence of neurofibrillary tangles and senile plaques in patient's brain. Accuracy of the clinal diagnosis of AD is quite variable (-60 to 95 %), leaving a significant number of AD patients undiagnosed or falsely positively diagnosed. Therefore there is a requirement for biological markers, which would unambiguously discriminate living AD patients from other non-AD individuals. Until now a few diagnostic biomarkers for AD have been identified, which can be divided in two groups: protein markers and genetic markers. The most significant protein biomarkers are levels of tau proteins, ubiquitin and amyloid beta-peptides in cerebrospinal fluid (CSF). Among genetic AD markers, the most relevant are allelic variants of gene for apolipoprotein E and point mutations in genes coding for amyloid precursor protein and presenilin 1 and 2. Nevertheless, neither of recent biomarkers allow the ultimate AD diagnosis, because the disease is multifactorial and heterogenous. Identification of various subgroups of AD will help improvement in diagnoses and development of potent therapeutic drugs (Tab. 2, Fig. 2, Ref. 53).",0
6,Dementia,"We describe a 57-year-old man (MW) with frontal variant frontotemporal dementia (fv-FTD) who presented with a long history of drinking problem and marital disharmony followed by gradual changes in personality with disinhibition, stereotypic checking, overeating and a decline in self-care. Structural MRI imaging confirmed marked frontal atrophy involving particularly the ventromedial region. Performance on standard tests of frontal executive function was largely unremarkable and MW obtained a perfect score on the Mini-Mental State Examination (MMSE). In contrast, an experimental battery of tasks designed to evaluate theory of mind (ToM) revealed marked deficits. MW's challenging and disruptive behaviours, notably obsessive checking of car suspension by rocking, and wandering, responded to behavioural modification regimes adapted from the neurorehabilitation literature. In conclusion, deficits in ToM may underline the gross abnormalities in social conduct, which characterise fv-FTD; ToM appears to dissociate from frontal executive function; and behavioural modification approaches can be of benefit in this disorder.","Dementia is characterized by significant declines in cognitive, physical, social, and behavioral functioning, and includes multiple subtypes that differ in etiology. There is limited evidence of the influence of psychiatric and substance use history on the risk of dementia subtypes among older underrepresented racial/ethnic minorities in the United States. Our study explored the role of psychiatric and substance use history on the risk of etiology-specific dementias: Alzheimer's disease (AD) and vascular dementia (VaD), in the context of a racially and ethnically diverse sample based on national data.",0
7,Dementia,"Amyotrophic lateral sclerosis (ALS) on Guam previously attained incidence rates 50 to 100 times that of the continental United States and Europe and accounted for one in five deaths among Chamorros over age 25. A second neurological disorder in high incidence, parkinsonism-dementia (PD), and the early appearance in those populations of neurofibrillary tangles such as are seen in Alzheimer's disease and normal ageing have also been noted. Incidence and mortality rates of both diseases have declined dramatically during the past 30 years, and today, the risk of developing either disease among Guamanian Chamorros is only several times higher than in non-Guamanian populations. The decline is most likely a consequence of increased acculturation over the past three decades, with a concomitant decrease in isolation, changes in dietary habits and local water supplies, and much less dependence on locally grown foodstuffs. Similar declines are evident in the remaining two Pacific foci of high- incidence ALS, namely the Kii Peninsula focus in Japan and southern West New Guinea where western contact and introduction of new foodstuffs have occurred.The accumulating epidemiological, genetic and environmental evidence, as well as the development of new and promising experimental animal models, support the hypothesis that a basic metabolic defect, provoked by chronic nutritional deficiencies of calcium, lead to increased intestinal absorption of toxic metals and the co-deposition of calcium, aluminium and silicon in neurons of patients with ALS and PD. This elemental deposition is thought to result in aberrant microtubule assembly and/or abnormal post-translational modification of the amyloid precursor protein leading to widespread formation of neurofibrillary tangles, the hallmark pathological features in these disorders. The naturalistic paradigms of these foci in the Western Pacific have provided insights to understanding not only ALS and PD but other neurological disorders, such as classical ALS, Parkinson's disease, Alzheimer's disease and early neuronal ageing. ","Clinical evidence shows that ischemic and hemorrhagic microvascular lesions in the brain play an important role in elderly dementia [1-4], but few effective treatment or preventative strategies exist. This deficit is due, in part, to a lack of good animal models of these microvascular lesions that would allow the progression of disease to be studied and would provide a platform for the evaluation of therapeutics. Here, we discuss recent advances in optical techniques that allow both the targeted production of single-vessel occlusions and hemorrhages in the cortex of anesthetized rodents, as well as the quantitative analysis of the impact of these lesions on blood flow in the adjacent vascular network and on the health and function of nearby brain cells. These new optical tools offer a comprehensive animal model of small-scale stroke that will enable the progression of neural damage after a microvascular insult as well as the interaction of small strokes with other neurodegenerative conditions, such as Alzheimer's disease, to be studied.",0
8,Dementia,"A random controlled trial of the relaxing effects of an aromatherapy massage on disordered behaviour in dementia was conducted. Twenty-one patients were randomly allocated into one of three conditions, aromatherapy and massage (AM), conversation and aromatherapy (CA) and massage only (M). AM showed the greatest reduction in the frequency of excessive motor behaviour of all three conditions. This reached statistical significance between the hours of three and four pm (p < 0.05). Post hoc analysis suggested that at this time of day the AM consistently reduced motor behaviour when compared with CA (p = 0.05). This provides preliminary evidence of a measurable sedative effect of aromatherapy massage on dementia within a robust scientific paradigm. Further research is recommended with an expanded sample size.","Neuroinflammation is emerging as an important pathological process in frontotemporal dementia (FTD), but biomarkers are lacking. We aimed to determine the value of complement proteins, which are key components of innate immunity, as biomarkers in cerebrospinal fluid (CSF) and plasma of presymptomatic and symptomatic genetic FTD mutation carriers.",1
9,Dementia,"Frontotemporal dementia (FTD) is the third-leading cause of cortical dementia after Alzheimer's disease and Lewy body dementia, and is characterized by a dementia where behavioral disturbances are prominent and appear early in the course of the disease. We report the case of a 58 year-old man affected by dementia with behavioral disturbances, in addition to rigid-hypokinetic and a lower motor neuron syndrome that were present at later stages of the illness. Neuroimaging studies showed frontotemporal atrophy. Neuropathological studies revealed intense thalamic neuronal loss and astrocytic gliosis, as well as moderate frontotemporal neuronal loss, astrocytosis and spongiform degeneration. Thalamic degeneration has previously been described among the wide group of neuropathological features of FTD. The aim of the present study is to show the clinical and neuropathological aspects of thalamic degeneration in FTD, along with its role in behavioral disturbances, a common finding in this condition.","The debate on legalization of physician-assisted death (PAD) has focused on its purely individual aspects, leaving aside equally relevant social dimensions such as a progressive expansion of PAD's causes, strains and changes in the doctor-patient relationship, and unreported PADs. The aim of this work was to explore these aspects through an analysis of the experience of Belgium and the Netherlands, countries where PAD is legal since 2002. The results, obtained through a systematic review of the literature, indicate that in both countries, the acceptance of the concept of ""psychological suffering"" allowed PAD to be performed in psychiatric patients, in persons with dementia and in older people with geriatric conditions. The acceptance to perform a PAD has a significant emotional burden for the physician who must assume the role of executor of the patient's will, which is aggravated by pressures from patients and their relatives. Moreover, more than 30% of PADs are not reported. All this information was obtained from physicians not willing to incriminate themselves, after the commission of the PADs, therefore hampering the monitoring of law abiding. These results reveal the existence of a social impact of PAD decriminalization that deserves greater consideration and further studies.",0
0,Schizophrenia,"Velocardiofacial syndrome (VCFS) is a congenital disorder characterised by multiple dysmorphisms, cleft palate, cardiac anomalies, and learning disabilities due to a microdeletion of chromosome 22q11.2. Although VCFS is often associated with psychiatric symptoms, its prevalence among psychiatric patients is unknown. A total of 326 patients admitted in September and October 1997 to a Japanese psychiatric hospital were screened for the clinical features of VCFS. Twelve patients with minor facial dysmorphia were identified; chromosomal analysis with fluorescent in situ hybridisation (FISH) was performed in six patients who, further assessment suggested, were most likely to have VCFS. Chromosome 22q11.2 deletion was identified in a 41 year old woman who had symptoms of schizophrenia but no major dysmorphia, such as cardiovascular anomalies and cleft palate. Her behavioural and neuropsychological profiles were similar to those previously reported in VCFS. She was hemizygous for the FISH probe N25 (GDB locus D22S75) and also for probes N72H9 (D22S181), sc11.1a, C443 (D22S941), sc4.1 (D22S134), sc11.1b, N19B3 (D22S264), N122B5 (D22S934), and N77F7 (D22S939). The size of the deletion was about 3 Mb. Our patient had only some features of VCFS including a square nasal root, hypernasal speech, and hypoparathyroidism. She did, however, have the common larger deletion of type A. This finding suggests that psychiatric symptoms in VCFS can occur without major developmental symptoms such as cardiovascular anomalies and cleft palate. Additional patients with schizophrenia may have subtle features of VCFS which are unrecognised on routine medical examinations.","Identification of imaging biomarkers for schizophrenia is an important but still challenging problem. Even though considerable efforts have been made over the past decades, quantitative alterations between patients and healthy subjects have not yet provided a diagnostic measure with sufficient high sensitivity and specificity. One of the most important reasons is the lack of consistent findings, which is in part due to single-mode study, which only detects single dimensional information by each modality, and thus misses the most crucial differences between groups. Here, we hypothesize that multimodal integration of functional MRI (fMRI), structural MRI (sMRI), and diffusion tensor imaging (DTI) might yield more power for the diagnosis of schizophrenia. A novel multivariate data fusion method for combining these modalities is introduced without reducing the dimension or using the priors from 161 schizophrenia patients and 168 matched healthy controls. The multi-index feature for each ROI is constructed and summarized with Wilk's lambda by performing multivariate analysis of variance to calculate the significant difference between different groups. Our results show that, among these modalities, fMRI has the most significant featureby calculating the Jaccard similarity coefficient (0.7416) and Kappa index (0.4833). Furthermore, fusion of these modalities provides the most plentiful information and the highest predictive accuracy of 86.52%. This work indicates that multimodal integration can improve the ability of distinguishing differences between groups and might be assisting in further diagnosis of schizophrenia.",0
1,Schizophrenia,"HLA antigens were typed among 136 Japanese schizophrenics. Increased frequencies were seen in A9 (Aw24), A10 (A26) and Bw54, and decreased frequency in B40 antigens when compared to 187 Japanese controls. It is suggested that there may be an association between A9 (Aw24) and schizophrenia with a chronic-progressive course and also an association between A10 (A26) and hebephrenia.","Prepulse inhibition (PPI) is an example of sensorimotor gating and deficits in PPI have been demonstrated in schizophrenia patients. Phencyclidine (PCP) suppression of PPI in animals has been studied to elucidate the pathological elements of schizophrenia. However, the molecular mechanisms underlying PCP treatment or PPI in the brain are still poorly understood. In this study, quantitative phosphoproteomic analysis was performed on the prefrontal cortex from rats that were subjected to PPI after being systemically injected with PCP or saline. PCP downregulated phosphorylation events were significantly enriched in proteins associated with long-term potentiation (LTP). Importantly, this data set identifies functionally novel phosphorylation sites on known LTP-associated signaling molecules. In addition, mutagenesis of a significantly altered phosphorylation site on xCT (SLC7A11), the light chain of system xc-, the cystine/glutamate antiporter, suggests that PCP also regulates the activity of this protein. Finally, new insights were also derived on PPI signaling independent of PCP treatment. This is the first quantitative phosphorylation proteomic analysis providing new molecular insights into sensorimotor gating. ",0
2,Schizophrenia,"Nonorganic insomnia is a frequent sleep disorder that has a high comorbidity with other psychiatric illnesses. In our sleep outpatient clinic, 41% of the patients showed neurotic, stress-related and somatoform disorders, 31% affective disorders and 1.6% schizophrenia. Sleep laboratory investigations in patients for diagnostic purposes and in normal subjects for the evaluation of drug effects suggest that changes in the sleep architecture of patients with nonorganic insomnia due to psychiatric disorders, compared with normal controls, are opposite to alterations induced by psychotropic drugs intended for their treatment, compared with placebo (key-lock principle). Evidence for this principle was found regarding nonorganic insomnia related to generalized anxiety disorder or panic disorders and benzodiazepines, depressive episodes, recurrent depression or dysthymia and sedative antidepressants and finally schizophrenia and sedative neuroleptics. Polysomnography (PSG) findings of other mental disorders are rather scarce and often depend upon the subtype and stage of the disease. In conclusion, sleep laboratory studies may be helpful for choosing the right drug for an individual insomniac patient.","The ubiquitin proteasome system (UPS) is a major regulator of protein processing, trafficking, and degradation. While protein ubiquitination is utilized for many cellular processes, one major function of this system is to target proteins to the proteasome for degradation. In schizophrenia, studies have found UPS transcript abnormalities in both blood and brain, and we have previously reported decreased protein expression of ubiquitin-associated proteins in brain. To test whether the proteasome is similarly dysregulated, we measured the protein expression of proteasome catalytic subunits as well as essential subunits from proteasome regulatory complexes in 14 pair-matched schizophrenia and comparison subjects in superior temporal cortex. We found decreased expression of Rpt1, Rpt3, and Rpt6, subunits of the 19S regulatory particle essential for ubiquitin-dependent degradation by the proteasome. Additionally, the α subunit of the 11S αβ regulatory particle, which enhances proteasomal degradation of small peptides and unfolded proteins, was also decreased. Haloperidol-treated rats did not have altered expression of these subunits, suggesting the changes we observed in schizophrenia are likely not due to chronic antipsychotic treatment. Interestingly, expression of the catalytic subunits of both the standard and immunoproteasome were unchanged, suggesting the abnormalities we observed may be specific to the complexed state of the proteasome. Aging has significant effects on the proteasome, and several subunits (20S β2, Rpn10, Rpn13, 11Sβ, and 11Sγ) were significantly correlated with subject age. These data provide further evidence of dysfunction of the ubiquitin-proteasome system in schizophrenia, and suggest that altered proteasome activity may be associated with the pathophysiology of this illness. ",0
3,Schizophrenia,"Case records of ninety consecutive first lifetime admissions with a hospital diagnosis of schizophrenia were examined for Schneiderian first rank symptoms, the Feighner diagnostic criteria, and the New Haven Schizophrenia Index. Diagnostic exclusion criteria were developed and applied. It is concluded that the hospital diagnosis of schizophrenia is likely to be too broad. Each diagnostic system can increase accuracy of diagnosis, but their exclusion criteria are too vague and the system would be improved by using those given here. Each diagnostic system selects similar groups of patients, and can be applied retrospectively to adequate case records.","People with schizophrenia spectrum disorders (SSD) show anomalies in language processing with respect to ""who is doing what"" in an action. This linguistic behavior is suggestive of an atypical representation of the formal concepts of ""Agent"" in the lexical representation of a verb, i.e., its thematic grid. To test this hypothesis, we administered a silent-reading task with sentences including a semantic violation of the animacy trait of the grammatical subject to 30 people with SSD and 30 healthy control participants (HCs). When the anomalous grammatical subject was the Agent of the event, a significant increase of Gaze Duration was observed in HCs, but not in SSDs. Conversely, when the anomalous subject was a Theme, SSDs displayed an increased probability of go-back movements, unlike HCs. These results are suggestive of a higher tolerability for anomalous Agents in SSD compared to the normal population. The fact that SSD participants did not show a similar tolerability for anomalous Themes rules out the issue of an attention deficit. We suggest that general communication abilities in SSD might benefit from explicit training on deep linguistic structures.",0
4,Schizophrenia,"An impairment of the blood-cerebrospinal fluid barrier (BCB) has repeatedly been described in schizophrenic patients. A BCB impairment can be due to vascular leakage during an inflammatory process, or to neuroleptic treatment. The soluble intercellular adhesion molecule-1 (sICAM-1) has been demonstrated to be a reliable marker for an inflammatory process causing an BCB impairment. To clarify the basis of a BCB impairment in schizophrenic patients, we measured the sICAM-1 levels in CSF of 40 schizophrenic patients. High concentrations of sICAM-1 were found to be related to high concentrations of albumin, IgG and total protein in CSF. A BCB impairment was associated with high levels of sICAM-1. Our data indicate an inflammatory mechanism of BCB impairment in schizophrenics and should enrich the discussion on an expanded immunological diagnosis in schizophrenia.","Aberrant glutamatergic, dopaminergic, and GABAergic neurotransmission has been implicated in schizophrenia. Cariprazine reverses the behavioral effects observed in the rat phencyclidine (PCP)-induced model of schizophrenia; however, little is known about its in vivo neurochemistry.",0
5,Schizophrenia,"The association between psychotic symptoms and violence is unclear, due in part to methodological features of investigations that have examined this question, and in part to the fact that the association likely differs by disorder and treatment conditions. Using data from The Comparative Study of the Prevention of Crime and Violence by Mentally Ill Persons, we examined 128 men with schizophrenia or schizoaffective disorder discharged from general and forensic psychiatric hospitals in Canada, Finland, Germany, and Sweden. The association between symptoms and aggressive behavior was studied during two 6 month periods when the patients lived in the community. Severe positive and negative symptoms of psychosis, depression, and anxiety were measured at the beginning of each of the 6 month periods. In addition, at the beginning of the second 6 month period changes in symptoms in the previous period were indexed. Aggressive behavior was measured in each 6 month period by reports from patients and from collaterals. During the first 6 months post-discharge, after controlling for the presence of antisocial personality disorder or PCL score and past diagnoses of alcohol/drug abuse/dependence, the presence of a severe positive symptom significantly increased the risk of aggressive behavior. During the second 6 month period, after controlling for antisocial personality disorder or PCL score and self-reported alcohol/drug use, the presence of a severe positive symptom, a TCO symptom, and an increase in TCO symptoms significantly increased the risk of aggressive behavior. Neither depot medications nor obligatory community treatment reduced the risk of aggressive behavior after controlling for the presence of a severe positive symptom and/or TCO symptoms. These findings suggest that, among men with schizophrenia being treated in the community, the presence of severe psychotic symptoms and the development of TCO symptoms are antecedents of aggressive behavior.","Mitochondria have been linked to the etiology of schizophrenia (SZ). However, studies of mitochondria in SZ might be confounded by the effects of pharmacological treatment with antipsychotic drugs (APDs) and other common medications. This review summarizes findings on relevant mitochondria mechanisms underlying SZ, and the potential impact of psychoactive drugs including primarily APDs, but also antidepressants and anxiolytics. The summarized data suggest that APDs impair mitochondria function by decreasing Complex I activity and ATP production and dissipation of the mitochondria membrane potential. At the same time, in the brains of patients with SZ, antipsychotic drug treatment normalizes gene expression modules enriched in mitochondrial genes that are decreased in SZ. This indicates that APDs may have both positive and negative effects on mitochondria. The available evidence suggests three conclusions i) alterations in mitochondria functions in SZ exist prior to APD treatment, ii) mitochondria alterations in SZ can be reversed by APD treatment, and iii) APDs directly cause impairment of mitochondria function. Overall, the mechanisms of action of psychiatric drugs on mitochondria are both direct and indirect; we conclude the effects of APDs on mitochondria may contribute to both their therapeutic and metabolic side effects. These studies support the hypothesis that neuronal mitochondria are an etiological factor in SZ. Moreover, APDs and other drugs must be considered in the evaluation of this pathophysiological role of mitochondria in SZ. Considering these effects, pharmacological actions on mitochondria may be a worthwhile target for further APD development.",0
6,Schizophrenia,The purpose of this study was to investigate sex differences in relationships between brain and behavior in schizophrenia.,There are pieces of evidence indicating that visual deficits in patients with schizophrenia can be attributed to a deficiency in the magnocellular portion of the early visual system. The main objective of this study was to investigate the neurological dysfunction of the magnocellular pathway in patients with schizophrenia using the frequency doubling technology perimetry (FDT). The FDT has been developed based on particular neural magnocellular characteristics and can examine the magnocellular dysfunction hypothesis in schizophrenia. Twenty patients with schizophrenia (12 males and 8 females) and 20 normal subjects (10 males and 10 females) participated in this study. The spatial frequency doubling task was presented via the Humphrey perimetry instrument in order to examine the magnocellular pathway of the participants. Patients with schizophrenia showed less visual field sensitivity than normal controls and their standardized age cohort in both eyes (p<0.001). The results indicated impaired visual field sensitivity deficits in patients with schizophrenia that can be attributed to a deficit in the magnocellular neural pathways. This Magnocellular pathway defect may provide a physiological base to explain some of the deficits caused by schizophrenia such as cognitive deficits. ,0
7,Schizophrenia,"This article examines the relationship between psychopathological subsyndromes in schizophrenia and cerebral alterations. A factor analysis of the psychopathological characteristics of 50 DSM-III schizophrenic patients revealed four subsyndromes. On the basis of these subsyndromes, four corresponding clusters of patients--remitted, chronic delusional, chronic asthenic, and chronic disorganized--were identified. These clusters were then compared with respect to negative symptoms, treatment response, neurological soft signs (NSS), and computed tomographic findings, such as the ventricle-brain ratio (VBR), using a discriminant analysis. The first discriminant function consisted of negative symptoms and significantly differentiated the remitted cluster from the three chronic clusters. Within the chronic clusters, the disorganized cluster was clearly identified by the second discriminant function (VBR and NSS). The third function (width of the interhemispheric fissure) provided only a tentative differentiation between the chronic delusional cluster and the chronic asthenic cluster. Although the subsyndromes of chronic schizophrenia share negative symptoms as a common feature, they appear to differ somewhat with regard to their morphological sites. These findings indicate that negative symptoms may arise from different psychopathological states and corroborate the existence of three subsyndromes in chronic schizophrenia.","The use of deep neural networks for electroencephalogram (EEG) classification has rapidly progressed and gained popularity in recent years, but automatic feature extraction from EEG signals remains a challenging task. The classification of neuropsychiatric disorders demands the extraction of neuro-markers for use in automated EEG classification. Numerous advanced deep learning algorithms can be used for this purpose. In this article, we present a comprehensive review of the main factors and parameters that affect the performance of deep neural networks in classifying different neuropsychiatric disorders using EEG signals. We also analyze the EEG features used for improving classification performance. Our analysis includes 82 scientific journal papers that applied deep neural networks for subject-wise classification based on EEG signals. We extracted information on the EEG dataset and types of disorders, deep neural network structures, performance, and hyperparameters. The results show that most studies have focused on clinical classification, achieving an average accuracy of 91.83 ± 7.34, with convolutional neural networks (CNNs) being the most frequently used network architecture and resting-state EEG signals being the most commonly used data type. Additionally, the review reveals that depression (N = 18), Alzheimer's (N = 11), and schizophrenia (N = 11) were studied more frequently than other types of neuropsychiatric disorders. Our review provides insight into the performance of deep neural networks in EEG classification and highlights the importance of EEG feature extraction in improving classification accuracy. By identifying the main factors and parameters that affect deep neural network performance in EEG classification, our review can guide future research in this area. We hope that our findings will encourage further exploration of deep learning methods for EEG classification and contribute to the development of more accurate and effective methods for diagnosing and monitoring neuropsychiatric disorders using EEG signals.",0
8,Schizophrenia,"A considerable body of evidence suggests that the dorsolateral prefrontal cortex is dysfunctional in schizophrenia. However, relatively few studies have explored the involvement of other areas of the frontal cortex. Research suggests that the orbitofrontal cortex (OFC) plays an important role in decision making processes. We assessed the decision making cognition of first-episode and chronic schizophrenic patients with a novel task sensitive to orbitofrontal dysfunction. Both first-episode and chronic patients with schizophrenia took longer than matched controls to make decisions, and both groups were also impaired on a measure of risk adjustment. The impairment in these measures was more severe in the chronic patients than in the first-episode patients, and only the chronic patients made significantly fewer optimal decisions than controls. These results contribute to increasing evidence of orbitofrontal dysfunction in schizophrenia, and suggest that disease progression or the effects of long term antipsychotic medication may influence performance on this task.","Glycogen synthase kinase 3 (GSK3) is at the center of cellular signaling and controls various aspects of brain functions, including development of the nervous system, neuronal plasticity and onset of neurodegenerative disorders. Areas covered: In this review, recent efforts in elucidating the roles of GSK3 in neuronal plasticity and development of brain pathologies; Alzheimer's and Parkinson's disease, schizophrenia, and age-related neurodegeneration are described. The effect of microglia and astrocytes on development of the pathological states is also discussed. Expert opinion: GSK3β and its signaling pathway partners hold great promise as therapeutic target(s) for a multitude of neurological disorders. Activity of the kinase is often elevated in brain disorders. However, due to the wide range of GSK3 cellular targets, global inhibition of the kinase leads to severe side-effects and GSK3 inhibitors rarely reach Phase-2 clinical trials. Thus, a selective modulation of a specific cellular pool of GSK3 or specific down- or upstream partners of the kinase might provide more efficient anti-neurodegenerative therapies.",0
9,Schizophrenia,"The N-methyl D-aspartate receptor complex is involved in the mechanism of long-term potentiation, which is thought to be the biological basis of learning and memory. This complex can be manipulated in a number of ways, one of which is through the strychnine-insensitive glycine receptor coagonist site. The effects of Bioglycin(Konapharma, Pratteln, Switzerland), a biologically active form of the amino acid glycine, were therefore studied in healthy students (mean age, 20.7 years) and middle-aged men (mean age, 58.9 years) with tests that measured attention, memory and mood, using a double-blind, randomized, crossover design. Compared with the young group, the middle-aged group had significantly poorer verbal episodic memory, focused, divided, and sustained attention; they also differed in their subjective responses at the end of testing. Bioglycin significantly improved retrieval from episodic memory in both the young and the middle-aged groups, but it did not affect focused or divided attention. However, the middle-aged men significantly benefited from Bioglycin in the sustained-attention task. The effects of Bioglycin differed from those of other cognitive enhancers in that it was without stimulant properties or significant effects on mood, and it primarily improved memory rather than attention. It is likely to be of benefit in young or older people in situations where high retrieval of information is needed or when performance is impaired by jet lag, shift work, or disrupted sleep. It may also benefit the impaired retrieval shown in patients with schizophrenia, Parkinson's disease, and Huntington's disease.","Numerous studies have demonstrated that fluvoxamine has considerable pharmacokinetic and pharmacodynamic interactions with clozapine. We conducted a 12-week, randomized, double-blind, placebo-controlled study to evaluate the effects of fluvoxamine on metabolic parameters and psychopathology in clozapine-treated patients with schizophrenia.",0
0,Depression,"Studying community residing youths originally recruited for an intervention trial upon entry into first grade, this project sought to estimate risk of suicide ideation and attempts to young adulthood, with focus on those who used drugs before age 16, as compared to youths who used later in development or not at all. Standardized interview assessments in 1989-1994 were completed with 2311 youths age 8-15. Roughly 15 years after recruitment, our study team reassessed 1695, nearly 75% of the survivors (mean age = 21), finding 155 to have made suicide attempts (SA) and 218 with onset of depression-related suicide ideation (SI). We estimate relative risk (RR), from survival analysis and logistic regression models, to study early use of tobacco, alcohol, cannabis, and inhalants, with covariate adjustments for age, sex, race-ethnicity, and other pertinent covariates. Early-onset of cannabis use and inhalant use for females, but not for males, signaled modestly excess risk of suicide attempt (cannabis-associated RR = 1.9; p = 0.04; inhalant-associated RR = 2.2; p = 0.05). Early-onset of cannabis use by females (but not for males) signaled excess risk for suicide ideation (RR = 2.9; p = 0.006). Early-onset alcohol and tobacco use were not associated with later risk of SA or SI. In light of the relatively modest strength of association, the evidence may well reflect an underlying common diathesis or unmeasured prior confounding influences that link early-onset illegal drug use with later risk of these suicide-related events, rather than an influence of early-onset drug use per se.","Obesity has been linked to cognitive decline and adverse effects on brain health. Zinc (Zn) is a mineral with important metabolic functions that can modulate obesity-related neurological impairment. Thus, the present study aimed to evaluate the effects of 12 weeks of Zn supplementation on the inflammatory profile, cognitive function, and mood of overweight or obese women through a double-blind, placebo-controlled study. The study included 42 women aged between 40 and 60, randomly divided into two groups: Zn supplementation (30 mg/day) or placebo for 12 weeks. Data regarding sociodemographic, anthropometric, dietary, and physical activity were collected. Mini-mental state examination (MMSE), verbal fluency test, clock drawing test, and Stroop test were performed. Anxiety and depression symptoms were assessed using the Beck anxiety inventory and the BDI-II, respectively. Saliva samples were collected to evaluate IL-1β, IL-6, TNF-α, insulin, nitrite, and Zn levels. Of the 42 participants (mean age 49.58 ± 6.46 years), 32 were included in the study analyses. Changes in body weight and macronutrient consumption were not different between placebo and Zn supplementation groups. Cognitive scores on the MMSE and Stroop tests were higher in the Zn supplementation group than in the placebo group. Salivary levels of IL-1b and Zn increased in the Zn group compared to placebo. There was no significant change in the adjusted means of the BDI-II and BECK scores between the zinc vs. placebo groups. Twelve weeks of Zn supplementation was able to partially improve the cognitive scores assessed in overweight or obese women, regardless of weight loss. These findings suggest that Zn supplementation can be considered an adjunct strategy to enhance cognitive health in overweight or obese women.",0
1,Depression,"58 acute hospitalized CVD patients were selected as study group. Each patient was administered a series of standardized quantitative measures. As a result, we found a significant difference between hemisphere (L: 55% vs R: 28% P < 0.05), and the difference was result from the highest incidence rate of PSD observed in the left anterior CVD subgroup. Meanwhile, those with left anterior lesion (cortical and subcortical) had the greater severity of depression than any other lesions. A strong negative correlation between the severity of depression and AP% was observed for left CVD group. The result of multiple stepwise regression analysis not only support the notions mentioned above but also shown up that a few factors other than location of the lesion had impact on the PSD. Finally, authors discussed the heterogenous causes of PSD and think probably biological etiology involved in the formation of PSD.","A total of 163 soil samples (0-20 cm layer) were collected from the grid sampling plots (80 m x 80 m) in Huanjiang Observation and Research Station of Karst Ecosystem in a small catchment in Karst cluster-peak depression area, South China. By using classical statistics and geostatistics, the spatial heterogeneity of mineral components (SiO2, Fe2O3, CaO, MgO, Al2O3, MnO, and TiO2) in the soils were studied. The contents of the seven soil mineral components in the study area differed greatly, being in the order of SiO2 > Al2O3 > CaO > MgO > Fe2O3 > TiO2 > MnO, and the variance coefficients also varied obviously, in the order of CaO > MgO > Fe2O3 > TiO2 > SiO2 > Al2O3 > MnO. The seven mineral components accounted for 69.4% of the total soil mass. The spatial patterns and the fittest models of the seven soil mineral components differed from each other. All the seven soil mineral components had a strong spatial autocorrelation, with shorter variation ranges and stronger spatial dependence. The Kriging contour maps indicated that the distribution patterns of soil SiO2, Fe2O3, Al2O3, MnO, and TiO2 were similar, being higher in south and east, lower in north and west, higher in depression, and lower in slope, while the distribution patterns of soil CaO and MgO were in adverse. Natural conditions (vegetation, bare rock rate, slope degree, and slope aspect, etc. ) and human disturbance were the most important factors affecting the spatial patterns of the soil mineral components.",1
2,Depression,"Indices of vagal and sympathetic activity were studied in 30 elderly males, to elucidate their possible roles in causing hypotension during spinal analgesia. The technique of spinal analgesia and the regimen of intravenous fluids were standardised. An index of vagal activity was derived from the degree of heart rate variation (successive RR interval change) on ECG recordings. Sympathetic activity was evaluated by changes in the skin conductance (SCR) of 15 patients. Analgesia to pinprick reached a median dermatome level of T5-6 (range T2-T10) by 15 min. Hypotension was correlated with the level of analgesia, and was more likely when spinal analgesia was higher than T5. There was no correlation between vagal activity and the degree of hypotension. The depression of skin conductance responses was not correlated with the degree of hypotension nor with vagal activity. Vagal efferent activity, measured at the heart, does not seem to play a causative role in hypotension occurring during spinal analgesia.","To evaluate depression, stress, anxiety and obsessive-compulsive behaviours in the Lebanese population in response to COVID-19 pandemic.",1
3,Depression,"Selective serotonin reuptake inhibitors (SSRIs) are used to treat a number of psychiatric disorders related to mood and anxiety, and variations in the serotonin transporter (5-HTT) gene may be involved in a number of these. A polymorphic site in the promoter region is associated with differences in 5-HTT gene expression. Studies suggest that the short allele of the 5-HTT promoter (5-HTTPR) site can adversely influence the antidepressant response to SSRIs, and is associated with anxiety-related traits, depression, and impulsive disorders such as alcohol abuse. Several studies do not replicate these findings; potential confounding factors include age, gender, and population stratification. Other 5-HTT polymorphisms also exist. For example, individuals with the short allele of a variable number of tandem repeats (VNTR) polymorphism, located in the second intron, may have reduced responsiveness to SSRIs, and the STin2.12 allele at this site has been associated with bipolar disorder. Findings both supporting and inconsistent with these conclusions are reviewed. The clinical effects of the polymorphisms may be associated with effects on platelets, neural 5-HTT levels, and indices of serotonergic function.","compare the quality of life (QOL) of aged residents in homes for aged people with or without symptoms of depression, and identify social, physical activity; leisure; health and basic activities of daily living (ADL) variables that correlate with QOL scores.",0
4,Depression,"Although several studies have examined the relationship between symptoms of depression or psychological distress and medication adherence, this is the first published study of HIV antiretroviral adherence and its correlates among persons diagnosed with serious mental illness. Forty-five of 47 (96%) participants completed a two-week study in which their adherence to antiretroviral medication was measured using electronic monitoring caps. Mean adherence (proportion of prescribed doses taken) was 66% (SD=34). There were several correlates (p<0.05) of adherence among background and medical characteristics, physical symptoms and side effects, cognitive and psychosocial functioning, and treatment-related attitudes and beliefs. However, in a forward stepwise regression, attendance at recent clinical appointments was the sole predictor that entered the model--accounting for 49% of the variance in adherence. Using attendance at recent clinic appointments as the criterion, adherence readiness (90+% adherence to antiretrovirals) was correctly determined for 72% of the sample. Although not sufficient to serve as the basis for treatment decision making, review of appointment-keeping records may provide clinicians with a simple, cost-effective method for predicting adherence to ongoing treatment, as well as for evaluating adherence readiness to inform the decision of whether to prescribe or defer treatment.","Depression risk is exacerbated by genetic factors and stress exposure; however, the biological mechanisms through which these factors interact to confer depression risk are poorly understood. One putative biological mechanism implicates variability in the ability of cortisol, released in response to stress, to trigger a cascade of adaptive genomic and non-genomic processes through glucocorticoid receptor (GR) activation. Here, we demonstrate that common genetic variants in long-range enhancer elements modulate the immediate transcriptional response to GR activation in human blood cells. These functional genetic variants increase risk for depression and co-heritable psychiatric disorders. Moreover, these risk variants are associated with inappropriate amygdala reactivity, a transdiagnostic psychiatric endophenotype and an important stress hormone response trigger. Network modeling and animal experiments suggest that these genetic differences in GR-induced transcriptional activation may mediate the risk for depression and other psychiatric disorders by altering a network of functionally related stress-sensitive genes in blood and brain.",0
5,Depression,"Microinjections of carbachol into the pons induce a state that resembles rapid eye movement (REM) sleep in intact cats and, in decerebrate, artificially ventilated cats, produce postural atonia accompanied by a powerful depression of the respiratory motor output. In this study, pontine carbachol was used in decerebrate, spontaneously breathing cats to assess the effects of mechanical and chemical respiratory reflexes on the magnitude and pattern of the carbachol-induced depression of breathing, and to determine whether the depression is altered in those animals in which rapid eye movements are present. Phrenic nerve activity and tidal volume were only transiently depressed at the onset of the carbachol-induced postural atonia, whereas the decrease in respiratory rate and the depressions of hypoglossal and intercostal activities persisted until the response was reversed by a pontine microinjection of atropine 15-101 minutes after the onset of carbachol response. Ventilation was reduced to 70% of control during the steady-state conditions. The irregularity of breathing, characterized by the inter-quartile ranges of the distributions of the peak phrenic nerve activity and respiratory timing, did not increase following pontine carbachol. Neither vagotomy nor vigorous eye movements were associated with increased breathing irregularity. This contrasts with the irregular breathing (with minor average changes in ventilation) typical of natural REM sleep. We propose that the carbachol-injected decerebrate cat provides a useful model of the depressant effects that neural events associated with REM sleep may have on breathing.","New frontiers for host-microbe interactions continue to emerge as our knowledge of the adult gut microbiome in health and disease is continually supplemented and improved. Alterations in the gut microbiota composition in irritable bowel syndrome (IBS) are now linked to symptom severity while population-based evidence linking gut microbiome signatures to depression is an important new landmark. The effects of drugs on gut microbiome composition are also becoming clearer. Meanwhile, preclinical studies have delineated the influence of the gut microbiome at a structural and activity level in distinct brain regions. Bacterial metabolites, such as tryptamine, can activate specific receptors to impact gastrointestinal motility. These recent studies bring into focus the future implications for therapeutic targeting of the microbiome-gut-brain axis.",1
6,Depression,"The purpose of this study was to elucidate the mechanism that induces an improvement in exercise capacity by nitrates in patients with stable effort angina pectoris. The study population was composed of 19 patients: group A, 10 patients with chronic stable effort angina who had a well-developed coronary collateral circulation to the potentially ischemic region; group B, 9 patients with chronic stable effort angina who had no collateral circulation to the jeopardized myocardium. Treadmill exercise was performed according to the standard Bruce protocol with and without pretreatment with orally administered 10 mg isosorbide dinitrate. Percent increases (mean +/- SE) in exercise duration were not significantly different between groups A and B (25 +/- 6 vs. 14 +/- 6%). Percent increases in the maximal rate-pressure product tended to be greater in group A than in group B (27 +/- 6 vs. 10 +/- 6%). Percent increases in the rate-pressure product at the onset of angina pectoris were significantly greater in group A than in group B (37 +/- 7 vs. 7 +/- 6%; p less than 0.01). Percent increases in the rate-pressure product at 0.1 mV S-T segment depression were also significantly greater in group A than in group B (26 +/- 6 vs. 1 +/- 5%; p less than 0.01). These results suggest that isosorbide dinitrate dilates epicardial collateral vessels with smooth muscle layers, but fails to dilate the coronary arteries with significant organic stenoses.","Research on routine outcome monitoring in psychotherapy settings is plentiful but not without implementation obstacles. In fact, there is a relative dearth of real-time outcome monitoring in substance use treatment settings. Numerous barriers to the development and implementation of clinical decision support tools and outcome monitoring of substance use patients, including the need to establish expected trajectories of change and use of reliable change indices have been identified (Goodman, McKay, & DePhilippis, 2013 ). The current study was undertaken to develop expected trajectories of change and to demonstrate the treatment effectiveness of a dual diagnosis intensive outpatient program. The expected trajectories of change for days of substance use and depression scores were developed using predictive equation models from derivation samples and then applied to cross-validation samples. Predictive equations to monitor substance use were developed and validated for all patients and for only patients who were actively using substance at the time of admission, as well as to monitor severity of their depression symptom on a weekly basis. Validation of the equations was assessed through the use of Cohen's kappa (Îş), receiver operating characteristic curves, reliable change index, and percentage improvement. Large effect sizes for reductions in substance use (Cohen's d = .76) and depressive symptoms (d = 1.10) are reported. The best predictive models we developed had absolute accuracy rates ranging from 95 to 100%. The findings from this study indicate that predictive equations for depressive symptoms and days of substance use can be derived and validated on dual diagnosis samples.",1
7,Depression,"This article describes the development of the Attachment and Object Relations Inventory (AORI). The AORI, a dimensional measure based on factor structure, was developed in response to the psychometric problems typical to attachment style measures that are categorical in nature. Test-retest reliability and internal consistency were high. A factor analysis of the 75 AORI items confirmed the existence of at least 6 factors and explained approximately 50% of the item variance. Convergent and discriminant validity of the AORI was supported through appropriate relationships with measures of depression, anxiety, and personality, and other measures of attachment and object relations.","The aim of this study was to evaluate the long-term outcome in 61 patients with medication-overuse headache (MOH) who 4 years previously had been included in a randomized open-label prospective multicentre study. Sixty patients still alive after 4 years were invited to a follow-up investigation. Fifty patients (83%) participated. Sixteen visited a neurologist, 22 were interviewed through telephone, 2 gave response by a letter, and 10 were evaluated through hospital records. The influence of baseline characteristics on outcome 4 years later was evaluated by non-parametric tests. p values below 0.01 were considered significant. At follow-up, the 50 persons had a mean reduction of 6.5 headache days/month (p < 0.001) and 9.5 acute headache medication days/month (p < 0.001) compared to baseline. Headache index/month was reduced from 449 to 321 (p < 0.001). Sixteen persons (32%) were considered as responders due to a ??0% reduction in headache frequency from baseline, whereas 17 (34%) persons met the criteria for MOH. None of the baseline characteristics consistently influenced all five outcome measures. Total Hospital Anxiety and Depression Scale (HADS) score at baseline was predictors (p < 0.005) for being a responder after 4 years. At 4 years' follow-up, one-third of the 50 MOH patients had ??0% reduction in headache frequency from baseline. A low total HADS score at baseline was associated with the most favorable outcome.",0
8,Depression,"The present study examined the distinctions between major depression without dysthymia, dysthymia without major depression, and double depression in child psychiatry inpatients.","Percutaneous epidural neuroplasty may lead to complications such as hematoma, infection, epidural abscess, meningitis, hypotension, respiratory depression, urinary and fecal dysfunction, sexual dysfunction and paresthesia. Other technical complications may include shearing or tearing, misplacement, blockage and migration of the catheter. We report a case of a 41-year-old female patient, who underwent surgical removal of a sheared catheter, which was retained for 30 months after cervical Racz neuroplasty. ",1
9,Depression,"1. A study has been made of the effects of changing the external calcium concentration [Ca](o) on the binomial parameters p and n that control the average quantal content (m) of the end-plate potential (e.p.p.) during trains of nerve impulses at synapses in amphibian striated muscle.2. In high external calcium concentrations (0.4 mM </= [Ca](o) < 1.0 mM) the increase in m of a test impulse following a conditioning impulse at different intervals (< 100 msec) was due to an increase in the number of quanta available for release, n; the increase in m of successive e.p.p.s in a short high frequency train was primarily due to an increase in n.3. In high external calcium concentrations (1.0 mM </= [Ca](o) < 10 mM) there was a decrease in m of a test impulse following a short high frequency conditioning train (4-5 impulses, 20-100 Hz) at different intervals (200 msec < 5 sec) and this was due to a decrease in the number of quanta available for release, n; in a long high frequency train (20 impulses, 20-100 Hz) there was an increase in m for the first few successive e.p.p.s followed by a depression of m which eventually reached a steady state and these changes in m were due to changes in n; the higher the frequency the greater was the depression in n during the steady-state period.4. In high calcium concentrations, the steady-state m reached in the first 20 impulses during continual stimulation at high frequency gave way to a decline in m over several minutes until a new depressed steady-state value of m was reached and this was maintained during the longest periods of stimulation (30 min); this decline in m was primarily due to a decline in the number of quanta available for release.5. These changes in the number of quanta available for release during trains of impulses are predicted in terms of a hypothesis in which facilitation is due to the accumulation of a residual calcium-receptor complex in the nerve terminal that determines the fraction of a pool of quanta which contributes to n, and depression is due to a decrease in the number of quanta in this pool.","Depression is common among people with diabetes, negatively affecting quality of life, treatment adherence and diabetes outcomes. In routine clinical care, diabetes patients have limited access to mental health services and depression therefore often remains untreated. Web-based therapy could potentially be an effective way to improve the reach of psychological care for diabetes patients, at relatively low costs. This study seeks to test the effectiveness of a web-based self-help depression programme for people with diabetes and co-morbid depression.",1