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9. Phenotypic variability in Mabry syndrome: Hyperphosphatasia with seizures and neurologic deficit
Hyperphosphatasia with neurologic deficit (Mabry syndrome) was first described in a single family (OMIM#239300) by . Although considered rare at the time, more than 20 individuals with the triad of developmental disability, seizures, and hyperphosphatasia have been identified world-wide. The 1–6 mannosyltransferase 2, phosphatidylinositol glycan V (PIGV) gene has been found to be disrupted in some patients with the additional feature of brachytelephalangy. To date, approximately 50% of these patients have been identified to be either homozygous or compound homozygous for PIGV mutations. Here we present four cases with PI...
Source: Clinical Neurophysiology - May 18, 2013 Category: Neuroscience Authors: Miles D. Thompson, Frances J. Sharom, John A. Phillips, Peter N. Robinson, David E.C. Cole, Danielle M. Andrade Tags: Society Proceedings Source Type: research

Falls and fractures among older adults living in long-term care
CONCLUSION: The high prevalence of falls and fractures highlights the fragility of the individuals living in long-term care. Special attention should be paid to older adults and those with hospital admissions in the last year. (Source: Revista Brasileira de Epidemiologia)
Source: Revista Brasileira de Epidemiologia - May 16, 2013 Category: Epidemiology Source Type: research

Barriers and facilitators of sports in Dutch Paralympic athletes: An explorative study
This study indicated that barriers of sport were mostly environmental, while facilitators were usually personal factors. Attitude and subjective norm were considered the most important components for intention to participation in sports. The facilitators outweighed the barriers and kept the athletes being active in sports. (Source: Scandinavian Journal of Medicine and Science in Sports)
Source: Scandinavian Journal of Medicine and Science in Sports - May 16, 2013 Category: Sports Medicine Authors: E. A. Jaarsma, J. H. B. Geertzen, R. Jong, P. U. Dijkstra, R. Dekker Tags: Original Article Source Type: research

In conversation with Paul Burstow
(Source: British Journal of Learning Disabilities)
Source: British Journal of Learning Disabilities - May 16, 2013 Category: Disability Authors: Andrew Holman Tags: In Conversation Source Type: research

Mutations in the Intellectual Disability Gene Ube2a Cause Neuronal Dysfunction and Impair Parkin-Dependent Mitophagy
Dominik M. Haddad, Sven Vilain, Melissa Vos, Giovanni Esposito, Samer Matta, Vera M. Kalscheuer, Katleen Craessaerts, Maarten Leyssen, Rafaella M.P. Nascimento, Angela M. Vianna-Morgante, Bart De Strooper, Hilde Van Esch, Vanessa A. Morais, Patrik Verstreken. The prevalence of intellectual disability is around 3%; however, the etiology of the disease remains unclear in most cases. We identified a series of patients with X-linked intellectual disability.... (Source: Molecular Cell)
Source: Molecular Cell - May 15, 2013 Category: Cytology Source Type: research

Comparison of the serious injury pattern of adult bicyclists, between South-West Netherlands and the State of Victoria, Australia 2001–2009
Abstract: Background: Head injury is the leading cause of death and long term disability from bicycle injuries and may be prevented by helmet wearing. We compared the pattern of injury in major trauma victims resulting from bicyclist injury admitted to hospitals in the State of Victoria, Australia and South-West Netherlands, with respective high and low prevalence of helmet use among bicyclists.Methods: A cohort of bicycle injured patients with serious injury (defined as Injury Severity Score>15) in South-West Netherlands, was compared to a cohort of serious injured bicyclists in the State of Victoria, Australia. Additiona...
Source: Injury - May 15, 2013 Category: Orthopaedics Authors: Pinar Yilmaz, Belinda J. Gabbe, Francis T. McDermott, Esther M.M. Van Lieshout, Pleunie P.M. Rood, Terrence M. Mulligan, Peter Patka, Peter A. Cameron Tags: Clinical papers Source Type: research

Trauma registries in developing countries: A review of the published experience
Conclusion: Amongst the small number of trauma registries in developing countries, there is a large variation in processes. The implementation of trauma systems with trauma registries is feasible in under-resourced environments where they are desperately needed. (Source: Injury)
Source: Injury - May 15, 2013 Category: Orthopaedics Authors: Gerard M. O’Reilly, Manjul Joshipura, Peter A. Cameron, Russell Gruen Tags: Reviews Source Type: research

Visual Field Staging Systems in Glaucoma and the Activities of Daily Living
Kulkarni and associates present an important study by correlating different scoring systems of visual field defects in glaucoma patients with their vision-related functional impairment. Not only did they implement the most commonly used questionnaire instrument in ophthalmology, the 25-item National Eye Institute Visual Function Questionnaire (NEI VFQ-25), functional impairment also was assessed by performance-based measurements (the Assessment of Disability Related to Vision Test [ADREV]). This is a very important and relatively new approach to obtain an idea of the real-life functional impairment of the glaucoma patient....
Source: American Journal of Ophthalmology - May 15, 2013 Category: Opthalmology Authors: Christoph Hirneiss Tags: Correspondence Source Type: research

Reply
We thank DR Hirneiss for his interest in our study. We agree that the absolute value of the difference in correlation coefficients was small when comparing visual field (VF) scores with the total Assessment of Disability Related to Vision score and the 25-item National Eye Institute Visual Function Questionnaire score in the better and worse eye. However, we find it noteworthy that after adjusting for age, race, and visual acuity, the VF score in the better eye was correlated more highly with visual functioning across all VF staging systems, Assessment of Disability Related to Vision subtest scores, and 25-item National Ey...
Source: American Journal of Ophthalmology - May 15, 2013 Category: Opthalmology Authors: Kaushal M. Kulkarni, Jason R. Mayer, Luciano L. Lorenzana, Jonathan S. Myers, George L. Spaeth Tags: Correspondence Source Type: research

A trajectory-based approach to understand the factors associated with persistent depressive symptoms in primary care
Conclusions: Most symptom trajectories remained static, suggesting that depression, as it presents in primary care, is not always an episodic disorder. The findings indicate future directions for building prognostic models to distinguish those who are likely to have a mild course from those who are likely to follow more severe trajectories. Determining appropriate clinical responses based upon a likely depression course requires further research. (Source: Journal of Affective Disorders)
Source: Journal of Affective Disorders - May 15, 2013 Category: Neurology Authors: Jane Gunn, Peter Elliott, Konstancja Densley, Aves Middleton, Gilles Ambresin, Christopher Dowrick, Helen Herrman, Kelsey Hegarty, Gail Gilchrist, Frances Griffiths Tags: Research reports Source Type: research

Who opposes rights for persons with physical and intellectual disabilities?
This study was designed to gain a better understanding of why certain individuals might oppose expanded rights for people who have disabilities. Pearson's correlations revealed that individuals high on social dominance orientation (SDO) and right‐wing authoritarianism (RWA) were more likely to reject rights for persons with intellectual and physical disabilities than individuals scoring lower on these factors. Structural equation analyses indicated that both SDO and RWA are directly implicated in opposition to expanded rights for these groups. Moreover, the effects of SDO on rights attitudes appear to be mediated through...
Source: Journal of Applied Social Psychology - May 15, 2013 Category: Psychiatry & Psychology Authors: H. Michael Crowson, Joyce A. Brandes, Rebecca J. Hurst Tags: Original Article Source Type: research

Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability
enevieve Lefort, Pierre Sarda, Anne Moncla, Severine Drunat, Dagmar Wieczorek & David Genevieve (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - May 15, 2013 Category: Genetics & Stem Cells Authors: Frederic Tran Mau-ThemMarjolaine WillemsBeate AlbrechtElodie SanchezJacques PuechbertySabine EndeleAnouck SchneiderNathalie Ruiz PallaresChantal MissirianFrancois RivierManon GirardMuriel HolderSylvie ManouvrierIsabelle TouitouGenevieve LefortPierre Sarda Tags: syndromic X-linked intellectual disability microcephaly IQSEC2-truncating mutations Source Type: research

Ten Years of Research: A Systematic Review of Three Refereed LD Journals
Content analyses of journals in the field of LD provide a means of surveying research and publication trends, the knowledge of which may inform policy and practice related to future research agendas. As the first decade of the current millennium was particularly contentious for the field of LD, we felt that a content review would be timely. In this paper, the content of three refereed LD journals—Journal of Learning Disabilities, Learning Disabilities Research & Practice, and Learning Disabilities Quarterly—was analyzed. Articles from 2001–2010 (n = 841) were systematically coded to capture article type, area of ...
Source: Learning Disabilities Research and Practice - May 15, 2013 Category: Disability Authors: Laura McFarland, Jacob Williams, Jeremy Miciak Tags: Research Source Type: research

Relation and Interactions Among Reading Fluency and Competence for Adult Education Learners
Statistical analyses of data from an academically diverse sample of 276 adult basic and secondary education learners extends understanding of the relation of and interactions between oral reading fluency and reading competence indices. Significant interactions between total word rate and word error rate that differed in relation to two measures of reading competence suggest that adult literacy instructors should emphasize fluency instruction to a greater or lesser degree depending on whether the major goal of instruction is academic reading (e.g., being able to comprehend a textbook) or functional reading (e.g., being able...
Source: Learning Disabilities Research and Practice - May 15, 2013 Category: Disability Authors: Daryl F. Mellard, Emily E. Fall, Kari L. Woods Tags: Research Source Type: research

Training for Generalization and Maintenance in RtI Implementation: Front‐Loading for Sustainability
This article applied the Stokes and Baer (1977) framework for programming for generalization and maintenance of behavior change to suggest specific activities in which schools could engage to better ensure RtI sustainability. We specifically discussed ways to (1) introduce to natural maintaining contingencies, (2) train with sufficient exemplars, (3) train loosely, (4) program common stimuli, (5) mediate generalization, and (6) train to generalize. Directions for future research are included. (Source: Learning Disabilities Research and Practice)
Source: Learning Disabilities Research and Practice - May 15, 2013 Category: Disability Authors: Matthew K. Burns, Andrea M. Egan, Amy K. Kunkel, Jennifer McComas, Meredith M. Peterson, Naomi L. Rahn, Jennifer Wilson Tags: Research Source Type: research

The Effect of a Noise Reducing Test Accommodation on Elementary Students with Learning Disabilities
Researchers in the fields of cognitive psychology and education have been studying the negative effects of noise on human performance for almost a century. A new empirical study that builds upon past relevant research on (1) test accommodations and (2) auditory distraction and academic performance was conducted with elementary age students. Reading comprehension tasks were completed by students with and without learning disabilities while wearing and not wearing noise‐reducing headphones. Results of three independent statistical analyses are presented. Implications, limitations, and the need for future research are also ...
Source: Learning Disabilities Research and Practice - May 15, 2013 Category: Disability Authors: Gregory W. Smith, Paul J. Riccomini Tags: Research Source Type: research

Multidisciplinary outpatient rehabilitation following cardiac revascularization or valve surgery: patient-related factors for uptake
Conclusion: These results confirm the low rates of MDCR attendance found in a previous study performed by the European Association of Cardiovascular Prevention and Rehabilitation. The study shows specific patient groups that should be targeted in priority, i.e. women, elderly, unemployed patients, disabled persons, and patients with a low socioeconomic status. (Source: European Journal of Preventive Cardiology)
Source: European Journal of Preventive Cardiology - May 14, 2013 Category: Cardiology Authors: Strens, D., Colle, A., Vrijens, F., Paulus, D., Eyssen, M., Van Brabandt, H., Van Vlaenderen, I. Tags: Original scientific papers Source Type: research

Disability associated with exposure to traumatic events: results from a cross-sectional community survey in South Sudan
Conclusions: The finding of association between traumatic experience and disability underlines the precariousness of the human rights situation for individuals with disability in low-income countries. It also has possible implications for the construction of disability services and for the provision of health services to individuals exposed to traumatic events. (Source: BMC Public Health - Latest articles)
Source: BMC Public Health - Latest articles - May 14, 2013 Category: Consumer Health News Authors: Touraj AyaziLars LienArne EideRachel JenkinsRita AlbinoEdvard Hauff Source Type: research

The Role of Transcendence in a Holistic View of Successful Aging: A Concept Analysis and Model of Transcendence in Maturation and Aging
Conclusion: The concept analysis suggested transcendence may provide a theoretical foundation for development of potentially cost-effective, efficacious interventions to foster a sense of meaning in life, well-being, and life satisfaction. The model under development may prove useful in planning potential interventions. (Source: Journal of Holistic Nursing)
Source: Journal of Holistic Nursing - May 14, 2013 Category: Nursing Authors: McCarthy, V. L., Bockweg, A. Tags: Theory Development Source Type: research

Alopecias
Answers to the following quiz questions can be found on page 120. Question 1 Case 1: An otherwise healthy 6-month-old boy presents with several patches of alopecia, slowly increasing in size over the past month. He is noted to have two school-aged brothers at home. On examination, there is an erythematous, boggy mass on the scalp with associated alopecia and occipital lymphadenopathy (figure 1). What is the most likely diagnosis? Question 2 Case 2: A healthy 9-year-old girl presents with an enlarging patch of alopecia on the posterior scalp for 5 months. It is asymptomatic, and she denies any pustules or pruritus. The...
Source: Archives of Disease in Childhood - Education and Practice - May 13, 2013 Category: Pediatrics Authors: Lio, P. A., Lee, K. C. Tags: Immunology (including allergy), Child health, Disability, Dermatology, Ear, nose and throat/otolaryngology Dermatophile Source Type: research

Answers to Epilogue questions
From questions on page 92. Answers to question 1 2004—Standard 4 in the National Service Framework for Children, Young People and Maternity Services (Department of Health, 2004) 2006—Transition: Getting it Right for Young People (Department of Health, 2006) 2007—Aiming High for Disabled Children (AHDC): Better Support for Families (Department for Education, 2007) and A Transition Guide for All Services: Key Information for Professionals about the Transition Process for Disabled Children (Department of Health, 2007) 2007—You're Welcome quality criteria (Department of Health, 2007) 2008—Transiti...
Source: Archives of Disease in Childhood - Education and Practice - May 13, 2013 Category: Pediatrics Authors: Scott-Jupp, R. Tags: Health informatics, Journalology, Competing interests (ethics), Confidentiality, Legal and forensic medicine Epilogue Source Type: research

Wrong site surgery in otolaryngology–head and neck surgery
ConclusionsFuture interventions to address these challenges related to otolaryngology–head and neck surgery might involve a standardized protocol to confirm imaging accuracy, a specialty‐ or procedure‐specific checklist, a standardized alternative to site marking when marking is impractical, and other innovations. Evaluation of these interventions is becoming easier given the increasing mandatory reporting of these events that provides more reliable incidence data. Laryngoscope, 00:000–000, 2013 (Source: The Laryngoscope)
Source: The Laryngoscope - May 13, 2013 Category: ENT & OMF Authors: Tzyy‐Nong Liou, Brian Nussenbaum Tags: General Otolaryngology Source Type: research

Impact of synechiae after endoscopic sinus surgery on long‐term outcomes in chronic rhinosinusitis
ConclusionsSynechiae of the sinonasal cavity commonly occurs following ESS, particularly in those undergoing revision surgeries. Although both groups improve, the degree of HRQoL improvement appears to be less in those who form postoperative synechiae after surgery compared to those who do not. Level of Evidence2c. Laryngoscope, 2013 (Source: The Laryngoscope)
Source: The Laryngoscope - May 13, 2013 Category: ENT & OMF Authors: Oswaldo A. Henriquez, Rodney J. Schlosser, Jess C. Mace, Timothy L. Smith, Zachary M. Soler Tags: Allergy/Rhinology Source Type: research

Asbestosis: Past voices from the Mumbai factory floor
Conclusion: Apart from the radical step of ban on asbestos, there is a need of community-based sustainable, affordable, and accessible rehabilitation program with a component of palliative care which will consider the different needs of this marginalized group. The need for such a program is intense as the number of asbestisis patients will keep on increasing till 30 to 40 years of asbestos ban. (Source: Indian Journal of Occupational and Environmental Medicine)
Source: Indian Journal of Occupational and Environmental Medicine - May 13, 2013 Category: Occupational Health Authors: Abhijeet V JadhavNobhojit Roy Source Type: research

Swiss Children's Moral and Psychological Judgments About Inclusion and Exclusion of Children With Disabilities
Children's judgments about inclusion and exclusion of children with disabilities were investigated in a Swiss sample of 6‐, 9‐, and 12‐year‐old children from inclusive and noninclusive classrooms (N = 422). Overall, the majority of children judged it as morally wrong to exclude children with disabilities. Yet, participants were less likely to expect the inclusion of children with mental or physical disabilities in academic and athletic contexts compared to social contexts. Moreover, older children more consistently coordinated disability type with context of exclusion. There were also significant differences depe...
Source: Child Development - May 13, 2013 Category: Child Development Authors: Luciano Gasser, Tina Malti, Alois Buholzer Tags: Empirical Article Source Type: research

Race/Ethnicity, insurance, income and access to care: the influence of health status
Conclusions: Interventions to expand insurance coverage and the Patient Protection and Affordable Care Act are expected to contribute to reducing disparities in access to care. However, to further improve access to care, emphasis must be placed on those with poorer health status and functional limitations. (Source: International Journal for Equity in Health)
Source: International Journal for Equity in Health - May 11, 2013 Category: Global & Universal Authors: Tze-Fang WangLeiyu ShiXiaoyu NieJinsheng Zhu Source Type: research

Home-based functional walking program for advanced cancer patients receiving palliative care: a case series
Conclusions: This case series demonstrates the challenges of a physical activity intervention in patients with advanced cancer receiving palliative care. Further feasibility research is required in this patient population.Trial registration: This study is registered under ClinicalTrials.gov as NCT00438620. (Source: BMC Palliative Care - Latest articles)
Source: BMC Palliative Care - Latest articles - May 11, 2013 Category: Palliative Care Authors: Sonya LoweSharon WatanabeVickie BaracosKerry Courneya Source Type: research

A Rat's Whiskers Point the Way toward a Novel Stimulus-Dependent, Protective Stroke Therapy
Stroke is the fourth leading cause of death in the United States and the leading cause of long-term disability. Ischemic stroke, due to an interruption in blood supply, is particularly prevalent; 87% of all strokes are ischemic. Unfortunately, current options for acute treatment are extremely limited and there is a great need for new treatment strategies. This review will discuss evidence that mild sensory stimulation can completely protect the jeopardized brain from an impending stroke in a rodent model. When delivered within the first 2 hours following ischemic onset, this stimulation results in complete protection, incl...
Source: The Neuroscientist - May 10, 2013 Category: Neurology Authors: Frostig, R. D., Lay, C. C., Davis, M. F. Tags: Articles Source Type: research

Paradoxical worsening of seizure activity with pregabalin in an adult with isodicentric 15 (IDIC-15) syndrome involving duplications of the GABRB3, GABRA5 and GABRG3 genes
Conclusion: This case may help define proper therapeutic strategies for the treatment of IDIC-15 associated seizures. (Source: BMC Neurology)
Source: BMC Neurology - May 10, 2013 Category: Neurology Authors: Alessandro Di RoccoAndrea LogginiMaja Di RoccoPietro Di RoccoRoger RossiGiorgio GimelliCarl Bazil Source Type: research

Percutaneous vertebroplasty in symptomatic hemangioma versus osteoporotic compression fracture
Conclusions: Although the preoperative scores were significantly different between group 1 and 2, there was no significant difference between two groups following the PVP. (Source: Table of Contents : Indian Journal of Orthopaedics : 2007 - 41(1))
Source: Table of Contents : Indian Journal of Orthopaedics : 2007 - 41(1) - May 10, 2013 Category: Orthopaedics Authors: Farzad Omidi-KashaniEbrahim G HasankhaniSaeed AkhlaghiFarideh Golhasani-KeshtanKatayoun Z Toosi Source Type: research

Massive lumbar disc herniation with complete dural sac stenosis
Conclusions: A massive LDH with complete dural sac stenosis was found to be associated with severe back and leg pain at presentation, however surgical treatment can be deferred unless significant neurological symptoms occur. (Source: Table of Contents : Indian Journal of Orthopaedics : 2007 - 41(1))
Source: Table of Contents : Indian Journal of Orthopaedics : 2007 - 41(1) - May 10, 2013 Category: Orthopaedics Authors: Chang-Hoon JeonNam-Su ChungKwang-Hyun SonHyo-Sung Lee Source Type: research

Comparison of the early results of transforaminal lumbar interbody fusion and posterior lumbar interbody fusion in symptomatic lumbar instability
Conclusions: Both methods were effective in relieving symptoms, achieving structural restoration, stability, and fusion, but TLIF had been associated with shorter operative time, less blood loss, and lesser complication rates for which it can be preferred for symptomatic lumbar instability. (Source: Table of Contents : Indian Journal of Orthopaedics : 2007 - 41(1))
Source: Table of Contents : Indian Journal of Orthopaedics : 2007 - 41(1) - May 10, 2013 Category: Orthopaedics Authors: Najmus SakebKamrul Ahsan Source Type: research

Elbow dislocation with irreparable fracture radial head
Conclusion: Radial head excision with MCL repair is an acceptable option for treatment of patients with elbow dislocation and irreparable radial head fracture. (Source: Table of Contents : Indian Journal of Orthopaedics : 2007 - 41(1))
Source: Table of Contents : Indian Journal of Orthopaedics : 2007 - 41(1) - May 10, 2013 Category: Orthopaedics Authors: Dilip Tanna Source Type: research

'Insights in the relationship of joint space narrowing versus erosive joint damage and physical functioning of patients with RA'
Conclusions Joint damage in the wrist, erosions more than JSN, is associated with impaired physical functioning even in patients with early RA with limited overall damage after 5 years tightly controlled treatment. (Source: Annals of the Rheumatic Diseases)
Source: Annals of the Rheumatic Diseases - May 10, 2013 Category: Rheumatology Authors: Koevoets, R., Dirven, L., Klarenbeek, N. B., van Krugten, M. V., Ronday, H. K., van der Heijde, D. M. F. M., Huizinga, T. W. J., Kerstens, P. S. J. M., Lems, W. F., Allaart, C. F. Tags: Immunology (including allergy), Disability, Connective tissue disease, Degenerative joint disease, Musculoskeletal syndromes, Rheumatoid arthritis Clinical and epidemiological research Source Type: research

The challenge of tendon pain
Most patients with tendinopathy report pain interfering with their physical capacity to perform to expectation, either at sport, recreation or work. Tendinopathy is a diagnosis associated with collagen disruption, increased tenocytes and ground substance, and neovessels. The relationship between these local tendon changes and patients' reported pain and disability is not a direct one, which necessitates the clinician to use clinical reasoning skills in interpreting the presenting signs and symptoms in light of the best available evidence. At this clinician-patient interface, a salient adage with which most would be familia...
Source: British Journal of Sports Medicine - May 10, 2013 Category: Sports Medicine Authors: Vicenzino, B. Tags: Trauma, Injury Abstracts from the 2nd International Scientific Tendinopathy Symposium (Vancouver, 2012) Source Type: research

Full-thickness supraspinatus tears demonstrate significant deterioration of muscle regenerative potential
Discussion Progression of rotator cuff tendinopathy is accompanied by a change in muscle fibre phenotype from endurance type I fibres to type II fibres more prone to fatigue, illustrating an aspect of muscle disuse. The rotator cuff muscle's ability to regenerate appears to be reduced when a full-thickness tear is established. Apoptosis does not appear to be of importance in muscle changes accompanying rotator cuff tendinopathy. (Source: British Journal of Sports Medicine)
Source: British Journal of Sports Medicine - May 10, 2013 Category: Sports Medicine Authors: Lundgreen, K., Lian, O., Scott, A., Engebretsen, L. Tags: Abstracts from the 2nd International Scientific Tendinopathy Symposium (Vancouver, 2012) Source Type: research

Chronic distal biceps tendon rupture: retrospective review of outocomes of a novel technique of reconstruction with tendon graft
Discussion Reconstruction of chronic distal biceps tendon rupture with tendon graft resulted in low patient-reported disability and high patient satisfaction. No statistically different values in isokinetic supination and elbow flexion strength were noted between operative and nonoperative sides. No loss of ROM was noted as a result of the reconstruction. (Source: British Journal of Sports Medicine)
Source: British Journal of Sports Medicine - May 10, 2013 Category: Sports Medicine Authors: Goetz, T., Okada, M., Scott, A., Pike, J. Tags: Tendon rupture, Procedures Abstracts from the 2nd International Scientific Tendinopathy Symposium (Vancouver, 2012) Source Type: research

Progeria syndrome in CKD/ESRD
Conclusions: Renal impairment independently associates with greater stroke disability at presentation and worse functional outcomes despite modern stroke care. Nonetheless these patients are also less likely to be thrombolysed for acute ischaemic stroke, which suggests a possible inequity in access to healthcare that requires urgent study. (Source: Nephrology Dialysis Transplantation)
Source: Nephrology Dialysis Transplantation - May 10, 2013 Category: Urology & Nephrology Authors: Power, A., Gill, D., Wietek, N., Lim, J., Tanna, R., Duncan, N., Troyano Suarez, N., Del Nogal Avila, M., Mora Valenciano, I., Olmos Centenero, G., Diez-Marques, M. L., Cortes, M., Lopez Ongil, S., Martin Sanchez, P., Rodriguez Puyol, D., Ruiz Torres, M. Tags: Abstracts Source Type: research

Hypertension - human studies
Conclusions:Higher predialysis SBP variability is associated with stroke on HD populations suggesting a potential role for cerebral perfusion instability. We confirm known associations between age, diabetes, pre-existent cerebrovascular disease and hypertension. In contrast to studies in non-dialysis patients we do not find an association between EPO dose and stroke. Interventional trials of blood pressure management on stroke are recommended. (Source: Nephrology Dialysis Transplantation)
Source: Nephrology Dialysis Transplantation - May 10, 2013 Category: Urology & Nephrology Authors: Power, A., Duncan, N., Pusey, C., Usvyat, L., Marcelli, D., Marelli, C., Kotanko, P., MONDO Consortium, Li, Z., Wang, J., Yuan, X., Wang, J., Wang, L., Ozkayar, N., Altun, B., Yildirim, T., Yilmaz, R., Dede, F., Hayran, M., Arici, M., Aki, T., Erdem, Y., Tags: Abstracts Source Type: research

Highlights from this issue
Depression in chronic fatigue syndrome Chronic fatigue syndrome (defined as 3 months of disabling fatigue plus at least one additional symptom persisting after routine tests have failed to identify an obvious underlying cause) is common and challenging to manage. More than half of children and young people are bed bound at some stage and miss one academic term. Depression is often seen and can impact on recovery. Bould and colleagues report the results of a cross sectional survey of depression in chronic fatigue syndrome using the Hospital Anxiety and Depression score (HADS) at assessment in a specialist CFS/ME unit. ...
Source: Archives of Disease in Childhood - May 9, 2013 Category: Pediatrics Authors: Beattie, R. M. Tags: Atoms Source Type: research

Evidence-based training of health professionals to inform families about disability
Conclusions The increase in reported levels of knowledge and confidence following training in best practice for informing families of their child's disability indicates the potential for providing communication skills training in this area. (Source: Archives of Disease in Childhood)
Source: Archives of Disease in Childhood - May 9, 2013 Category: Pediatrics Authors: Harnett, A., Bettendorf, E., Tierney, E., Guerin, S., O'Rourke, M., Hourihane, J. O. Tags: Undergraduate Original article Source Type: research

Depression in paediatric chronic fatigue syndrome
Conclusions Depression is commonly comorbid with CFS/ME, much more common than in the general population, and is associated with markers of disease severity. It is important to screen for, identify and treat depression in this population. (Source: Archives of Disease in Childhood)
Source: Archives of Disease in Childhood - May 9, 2013 Category: Pediatrics Authors: Bould, H., Collin, S. M., Lewis, G., Rimes, K., Crawley, E. Tags: Editor's choice, Drugs: CNS (not psychiatric), Neuromuscular disease, Pain (neurology), Child and adolescent psychiatry (paedatrics), Rheumatology Original article Source Type: research

Internet Access and Use in Adults With Hearing Loss
Conclusions: We conclude that the use of computers and the Internet overall is at least at the same level for people with hearing loss as for the general age-matched population in Sweden, but that this use is even higher in specific age groups. These results are important for the future work in developing and evaluating rehabilitative educational online tools for adults with hearing loss. (Source: Journal of Medical Internet Research)
Source: Journal of Medical Internet Research - May 9, 2013 Category: Journals (General) Authors: Elisabet Sundewall ThorénMarie ÖbergGunilla WänströmGerhard AnderssonThomas Lunner Source Type: research

ADvanced IMage Algebra (ADIMA): a novel method for depicting multiple sclerosis lesion heterogeneity, as demonstrated by quantitative MRI
Conclusion: ADIMA enabled the simple classification of WML into two groups having different quantitative magnetic resonance properties, which can be reproducibly distinguished. (Source: Multiple Sclerosis)
Source: Multiple Sclerosis - May 8, 2013 Category: Neurology Authors: Yiannakas, M. C., Tozer, D. J., Schmierer, K., Chard, D. T., Anderson, V. M., Altmann, D. R., Miller, D. H., Wheeler-Kingshott, C. A. Tags: Research Papers Source Type: research

Analysis of prognostic factors associated with longitudinally extensive transverse myelitis
Conclusions: Inflammatory LETM is mostly idiopathic with a good outcome. It includes a relatively homogenous group of patients with an overrepresentation of the HLA-DRB1*13 genotype. EDSS at nadir is a predictor of the final outcome and extension of the myelitis of the recurrence risk. (Source: Multiple Sclerosis)
Source: Multiple Sclerosis - May 8, 2013 Category: Neurology Authors: Sepulveda, M., Blanco, Y., Rovira, A., Rio, J., Mendibe, M., Llufriu, S., Gabilondo, I., Villoslada, P., Castillo, J., Corral, J., Ayuso, T., Iniguez, C., Santos, S., Guijarro, C., Ramio-Torrenta, L., Sempere, A. P., Olascoaga, J., Graus, F., Montalban, X Tags: Research Papers Source Type: research

Chronic cerebrospinal venous insufficiency is not more prevalent in patients with mild multiple sclerosis: a sonographer-blinded, case-control ultrasound study
Conclusions: Our findings indicate that CCSVI, as defined by the Zamboni ultrasound criteria, is not present in CIS and mild RRMS (EDSS ≤2), providing further evidence that CCSVI does not have a causal role in MS; however, we found an apparent increase in IJV variation in patients with CIS or mild MS that would warrant further investigation. (Source: Multiple Sclerosis)
Source: Multiple Sclerosis - May 8, 2013 Category: Neurology Authors: Chambers, B., Chambers, J., Cameron, H., Macdonell, R. Tags: Research Papers Source Type: research

EDSS variability before randomization may limit treatment discovery in primary progressive MS
Conclusion: Baseline EDSS derived from two pre-treatment EDSS measurements may enhance the ability of detecting a therapeutic effect in slowing disability progression in PPMS. This strategy could be implemented in future clinical trials of patients with MS. (Source: Multiple Sclerosis)
Source: Multiple Sclerosis - May 8, 2013 Category: Neurology Authors: Zhang, J., Waubant, E., Cutter, G., Wolinsky, J. S., Glanzman, R. Tags: Research Papers Source Type: research

Delineation of a Region Responsible for Panhypopituitarism in 20p11.2
We report on the case of a young woman with a de novo 20p11.21p11.23 deletion, discovered by array‐CGH. She has behavioral troubles with autistic traits, intellectual disability, panhypopituitarism, severe hypoglycemia, epilepsy, and scoliosis. The majority of the reported 20p deletions are located on the 20p12 region, covering the JAG1 gene responsible for the Alagille syndrome. More proximal deletions are even rarer, with very few cases described in the literature to date. The deletion carried by our patient is, to our knowledge, the smallest described de novo proximal 20p11.2 deletion. It was first discovered by 0.5�...
Source: American Journal of Medical Genetics Part A - May 8, 2013 Category: Genetics & Stem Cells Authors: Manal Dayem‐Quere, Fabienne Giuliano, Kathy Wagner‐Mahler, Christophe Massol, Letizia Crouzet‐Ozenda, Jean‐Claude Lambert, Houda Karmous‐Benailly Tags: Research Article Source Type: research

Mortality from sudden unexpected death in epilepsy (SUDEP) in a cohort of adults with intellectual disability
ConclusionThe authors believe that a comprehensive risk management under a multiagency/multidisciplinary framework should be undertaken for all adults with ID and epilepsy in day‐to‐day clinical practice to reduce mortality in people with ID. (Source: Journal of Intellectual Disability Research)
Source: Journal of Intellectual Disability Research - May 7, 2013 Category: Disability Authors: R. Kiani, F. Tyrer, A. Jesu, S. Bhaumik, S. Gangavati, G. Walker, S. Kazmi, M. Barrett Tags: Original Article Source Type: research