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https://www.readbyqxmd.com/read/29050398/delineating-sptan1-associated-phenotypes-from-isolated-epilepsy-to-encephalopathy-with-progressive-brain-atrophy
#1
Steffen Syrbe, Frederike L Harms, Elena Parrini, Martino Montomoli, Ulrike Mütze, Katherine L Helbig, Tilman Polster, Beate Albrecht, Ulrich Bernbeck, Ellen van Binsbergen, Saskia Biskup, Lydie Burglen, Jonas Denecke, Bénédicte Heron, Henrike O Heyne, Georg F Hoffmann, Frauke Hornemann, Takeshi Matsushige, Ryuki Matsuura, Mitsuhiro Kato, G Christoph Korenke, Alma Kuechler, Constanze Lämmer, Andreas Merkenschlager, Cyril Mignot, Susanne Ruf, Mitsuko Nakashima, Hirotomo Saitsu, Hannah Stamberger, Tiziana Pisano, Jun Tohyama, Sarah Weckhuysen, Wendy Werckx, Julia Wickert, Francesco Mari, Nienke E Verbeek, Rikke S Møller, Bobby Koeleman, Naomichi Matsumoto, William B Dobyns, Domenica Battaglia, Johannes R Lemke, Kerstin Kutsche, Renzo Guerrini
De novo in-frame deletions and duplications in the SPTAN1 gene, encoding the non-erythrocyte αII spectrin, have been associated with severe West syndrome with hypomyelination and pontocerebellar atrophy. We aimed at comprehensively delineating the phenotypic spectrum associated with SPTAN1 mutations. Using different molecular genetic techniques, we identified 20 patients with a pathogenic or likely pathogenic SPTAN1 variant and reviewed their clinical, genetic and imaging data. SPTAN1 de novo alterations included seven unique missense variants and nine in-frame deletions/duplications of which 12 were novel...
September 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29050389/towards-personalized-therapy-for-multiple-sclerosis-prediction-of-individual-treatment-response
#2
Tomas Kalincik, Ali Manouchehrinia, Lukas Sobisek, Vilija Jokubaitis, Tim Spelman, Dana Horakova, Eva Havrdova, Maria Trojano, Guillermo Izquierdo, Alessandra Lugaresi, Marc Girard, Alexandre Prat, Pierre Duquette, Pierre Grammond, Patrizia Sola, Raymond Hupperts, Francois Grand'Maison, Eugenio Pucci, Cavit Boz, Raed Alroughani, Vincent Van Pesch, Jeannette Lechner-Scott, Murat Terzi, Roberto Bergamaschi, Gerardo Iuliano, Franco Granella, Daniele Spitaleri, Vahid Shaygannejad, Celia Oreja-Guevara, Mark Slee, Radek Ampapa, Freek Verheul, Pamela McCombe, Javier Olascoaga, Maria Pia Amato, Steve Vucic, Suzanne Hodgkinson, Cristina Ramo-Tello, Shlomo Flechter, Edgardo Cristiano, Csilla Rozsa, Fraser Moore, Jose Luis Sanchez-Menoyo, Maria Laura Saladino, Michael Barnett, Jan Hillert, Helmut Butzkueven
Timely initiation of effective therapy is crucial for preventing disability in multiple sclerosis; however, treatment response varies greatly among patients. Comprehensive predictive models of individual treatment response are lacking. Our aims were: (i) to develop predictive algorithms for individual treatment response using demographic, clinical and paraclinical predictors in patients with multiple sclerosis; and (ii) to evaluate accuracy, and internal and external validity of these algorithms. This study evaluated 27 demographic, clinical and paraclinical predictors of individual response to seven disease-modifying therapies in MSBase, a large global cohort study...
September 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29049920/factors-associated-with-vision-related-quality-of-life-among-the-adult-population-living-in-nagorno-karabagh
#3
T Harutyunyan, A Giloyan, V Petrosyan
OBJECTIVES: Visual impairment and blindness are major public health problems causing significant suffering, disability, loss of productivity, and diminishing quality of life for millions of people. This study explored the factors associated with the overall vision-related quality of life (VRQoL) and its different domains in the adult population of Nagorno Karabakh and assessed the independent contribution of specific eye diseases to VRQoL. STUDY DESIGN: A cross-sectional study...
October 16, 2017: Public Health
https://www.readbyqxmd.com/read/29049890/dna-methylation-signatures-in-peripheral-blood-mononuclear-cells-from-a-lifestyle-intervention-for-women-at-midlife-a-pilot-rct
#4
Lisa M McEwen, Evan G Gatev, Meaghan J Jones, Julia L MacIsaac, Megan M McAllister, Rebecca E Goulding, Kenneth M Madden, Martin G Dawes, Michael S Kobor, Maureen C Ashe
OBJECTIVES: Physical activity confers many health benefits, but the underlying mechanisms require further exploration. In this pilot randomized controlled trial we tested the association between longitudinal measures of DNA methylation and changes in objective measures including physical activity, weight loss, and C-reactive protein levels in community-dwelling women aged 55 to 70 years. METHODS: We assessed DNA methylation from 20 healthy post-menopausal women (55-70 years of age), who did not have a mobility disability and allocated them to a group-based intervention, Everyday Activity Supports You (EASY), or a control group (monthly group-based health-related education sessions)...
October 19, 2017: Applied Physiology, Nutrition, and Metabolism, Physiologie Appliquée, Nutrition et Métabolisme
https://www.readbyqxmd.com/read/29049855/intra-arterial-transplantation-of-human-bone-marrow-mesenchymal-stem-cells-hbmmscs-improves-behavioral-deficits-and-alters-gene-expression-in-rodent-stroke-model
#5
Vibhuti, Rehan Khan, Alpana Sharma, Suman Jain, Sujata Mohanty, Kameshwar Prasad
Stroke is a multi-factorial polygenic disease and is a major cause of death and adult disability. Administration of bone marrow stem cells protects ischemic rat brain by facilitating recovery of neurological functions. But the molecular mechanism of stem cells action and their effect on gene expression is not well explored. In this study, we have transplanted 1× 10(6) human bone marrow mesenchymal stem cells (hBMMSCs) in middle cerebral artery occluded (MCAo) adult male Wistar rats through intracarotid artery route at 24 hours after surgery...
October 19, 2017: Journal of Neurochemistry
https://www.readbyqxmd.com/read/29049813/assessment-of-pain-anxiety-pain-catastrophizing-and-fear-of-pain-in-children-and-adolescents-with-chronic-pain-a-systematic-review-and-meta-analysis
#6
Emma Fisher, Lauren C Heathcote, Christopher Eccleston, Laura E Simons, Tonya M Palermo
To conduct a systematic review of pain anxiety, pain catastrophizing, and fear of pain measures psychometrically established in youth with chronic pain. The review addresses three specific aims: (1) to identify measures used in youth with chronic pain, summarizing their content, psychometric properties, and use; (2) to use evidence-based assessment criteria to rate each measure according to the Society of Pediatric Psychology (SPP) guidelines; (3) to pool data across studies for meta-analysis of shared variance in psychometric performance in relation to the primary outcomes of pain intensity, disability, generalized anxiety, and depression...
July 25, 2017: Journal of Pediatric Psychology
https://www.readbyqxmd.com/read/29049805/health-related-quality-of-life-in-pediatric-patients-with-demyelinating-diseases-relevance-of-disability-relapsing-presentation-and-fatigue
#7
Mariella M Self, Aaron Fobian, Katherine Cutitta, Arianne Wallace, Timothy E Lotze
Decreased health-related quality of life (HRQOL) in pediatric patients with multiple sclerosis is established, but little research has examined HRQOL in the broader pediatric demyelinating disease population, and predictors of reduced HRQOL are largely unexplored. We sought to (1) compare generic HRQOL and fatigue of pediatric patients with relapsing (i.e., multiple sclerosis and neuromyelitis optica) versus monophasic demyelinating diseases (i.e., acute disseminated encephalomyelitis, optic neuritis, transverse myelitis, clinically isolated syndrome) and (2) examine the extent to which disability, relapsing disease, and fatigue predict HRQOL...
July 21, 2017: Journal of Pediatric Psychology
https://www.readbyqxmd.com/read/29049619/field-monitoring-of-otoacoustic-emissions-during-noise-exposure-pilot-study-in-controlled-environment
#8
Vincent Nadon, Annelies Bockstael, Dick Botteldooren, Jérémie Voix
Purpose: In spite of all the efforts to implement workplace hearing conservation programs, noise-induced hearing loss remains the leading cause of disability for North American workers. Nonetheless, an individual's susceptibility to noise-induced hearing loss can be estimated by monitoring changes in hearing status in relation to the level of ambient noise exposure. The purpose of this study was to validate an approach that could improve workplace hearing conservation practices. The approach was developed using a portable and robust system designed for noisy environments and consisted of taking continuous measurements with high temporal resolution of the health status of the inner ear using otoacoustic emissions (OAEs)...
October 12, 2017: American Journal of Audiology
https://www.readbyqxmd.com/read/29049554/genetic-association-of-major-depression-with-atypical-features-and-obesity-related-immunometabolic-dysregulations
#9
Yuri Milaneschi, Femke Lamers, Wouter J Peyrot, Bernhard T Baune, Gerome Breen, Abbas Dehghan, Andreas J Forstner, Hans J Grabe, Georg Homuth, Carol Kan, Cathryn Lewis, Niamh Mullins, Matthias Nauck, Giorgio Pistis, Martin Preisig, Margarita Rivera, Marcella Rietschel, Fabian Streit, Jana Strohmaier, Alexander Teumer, Sandra Van der Auwera, Naomi R Wray, Dorret I Boomsma, Brenda W J H Penninx
Importance: The association between major depressive disorder (MDD) and obesity may stem from shared immunometabolic mechanisms particularly evident in MDD with atypical features, characterized by increased appetite and/or weight (A/W) during an active episode. Objective: To determine whether subgroups of patients with MDD stratified according to the A/W criterion had a different degree of genetic overlap with obesity-related traits (body mass index [BMI] and levels of C-reactive protein [CRP] and leptin)...
October 18, 2017: JAMA Psychiatry
https://www.readbyqxmd.com/read/29049517/-job-lock-among-long-term-survivors-of-childhood-cancer-a-report-from-the-childhood-cancer-survivor-study
#10
Anne C Kirchhoff, Ryan Nipp, Echo L Warner, Karen Kuhlthau, Wendy M Leisenring, Karen Donelan, Julia Rabin, Giselle K Perez, Kevin C Oeffinger, Paul C Nathan, Leslie L Robison, Gregory T Armstrong, Elyse R Park
Importance: Childhood cancer survivors may be reluctant to make changes in their employment because of access to health insurance. Objective: To examine the prevalence of "job lock" (staying at a job to keep work-related health insurance) in a sample drawn from an established, multi-institutional cohort of full-time employed childhood cancer survivors compared with a random sample of siblings and to explore factors associated with job lock among cancer survivors...
October 19, 2017: JAMA Oncology
https://www.readbyqxmd.com/read/29049488/concentration-of-potentially-preventable-spending-among-high-cost-medicare-subpopulations-an-observational-study
#11
Jose F Figueroa, Karen E Joynt Maddox, Nancy Beaulieu, Robert C Wild, Ashish K Jha
Background: Little is known about whether potentially preventable spending is concentrated among a subset of high-cost Medicare beneficiaries. Objective: To determine the proportion of total spending that is potentially preventable across distinct subpopulations of high-cost Medicare beneficiaries. Design: Beneficiaries in the highest 10% of total standardized individual spending were defined as "high-cost" patients, using a 20% sample of Medicare fee-for-service claims from 2012...
October 17, 2017: Annals of Internal Medicine
https://www.readbyqxmd.com/read/29049287/bbsome-function-is-required-for-both-the-morphogenesis-and-maintenance-of-the-photoreceptor-outer-segment
#12
Ying Hsu, Janelle E Garrison, Gunhee Kim, Addison R Schmitz, Charles C Searby, Qihong Zhang, Poppy Datta, Darryl Y Nishimura, Seongjin Seo, Val C Sheffield
Genetic mutations disrupting the structure and function of primary cilia cause various inherited retinal diseases in humans. Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, pleiotropic ciliopathy characterized by retinal degeneration, obesity, postaxial polydactyly, intellectual disability, and genital and renal abnormalities. To gain insight into the mechanisms of retinal degeneration in BBS, we developed a congenital knockout mouse of Bbs8, as well as conditional mouse models in which function of the BBSome (a protein complex that mediates ciliary trafficking) can be temporally inactivated or restored...
October 19, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/29049215/pain-intensity-and-abdominal-muscle-activation-during-walking-in-patients-with-low-back-pain-the-strobe-study
#13
Si-Hyun Kim, Kyue-Nam Park, Oh-Yun Kwon
Nonspecific low back pain (LBP) is a common musculoskeletal problem that is intensified during physical activity. Patients with LBP have been reported to change their abdominal muscle activity during walking; however, the effects of pain intensity, disability level, and fear-avoidance belief on this relationship have not been evaluated. Thus, we compared abdominal muscle activity in patients with LBP and asymptomatic controls, and assessed the impact of pain intensity, disability level, and fear-avoidance belief...
October 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29049125/correlation-between-the-pain-numeric-rating-scale-and-the-12-item-who-disability-assessment-schedule-2-0-in-patients-with-musculoskeletal-pain
#14
Mikhail Saltychev, Esa Bärlund, Katri Laimi
OBJECTIVE: The aim of this study was to assess the correlation between pain severity measured on a numeric rating scale and restrictions of functioning measured with the WHO Disability Assessment Schedule (WHODAS 2.0). PATIENTS AND METHODS: This was a cross-sectional study of 1207 patients with musculoskeletal pain conditions. Correlation was assessed using Spearman's and Pearson tests. RESULTS: Although all the Spearman's rank correlations between WHODAS 2...
October 18, 2017: International Journal of Rehabilitation Research. Revue Internationale de Recherches de Réadaptation
https://www.readbyqxmd.com/read/29048954/the-cumulative-probability-of-arrest-by-age-28-years-in-the-united-states-by-disability-status-race-ethnicity-and-gender
#15
Erin J McCauley
OBJECTIVES: To estimate the cumulative probability (c) of arrest by age 28 years in the United States by disability status, race/ethnicity, and gender. METHODS: I estimated cumulative probabilities through birth cohort life tables with data from the National Longitudinal Survey of Youth, 1997. RESULTS: Estimates demonstrated that those with disabilities have a higher cumulative probability of arrest (c = 42.65) than those without (c = 29...
October 19, 2017: American Journal of Public Health
https://www.readbyqxmd.com/read/29048739/pharmacotherapy-for-social-anxiety-disorder-sand
#16
REVIEW
Taryn Williams, Coenraad J Hattingh, Catherine M Kariuki, Sean A Tromp, Anton J van Balkom, Jonathan C Ipser, Dan J Stein
BACKGROUND: Recognition is growing that social anxiety disorder (SAnD) is a chronic and disabling disorder, and data from early trials demonstrate that medication may be effective in its treatment. This systematic review is an update of an earlier review of pharmacotherapy of SAnD. OBJECTIVES: To assess the effects of pharmacotherapy for social anxiety disorder in adults and identify which factors (methodological or clinical) predict response to treatment. SEARCH METHODS: We searched the Cochrane Common Mental Disorders Controlled Trials Register (CCMDCTR-Studies and CCMDCTR-References) to 17 August 2015...
October 19, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29048725/biallelicframeshift-mutation-in-rin2-in-a-patient-with-intellectual-disability-and-cataract-without-rin2-syndrome
#17
Claudia J M van Amen-Hellebrekers, Sandra Jansen, Alexander P A Stegmann, Servi J C Stevens, Rolph Pfundt, Bert B A de Vries
No abstract text is available yet for this article.
October 19, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29048690/large-fresh-osteochondral-allografts-for-the-hip-growing-the-evidence
#18
Lasun O Oladeji, James L Cook, James P Stannard, Brett D Crist
INTRODUCTION: Articular cartilage lesions of the hip are difficult to effectively treat. Osteochondral allograft (OCA) transplantation in the knee has been associated with long-term success, but OCA for the hip has not been extensively studied. Here, we present the clinical and radiological outcomes from a cohort of 10 patients treated with fresh OCA transplants for large osteochondral defects of the femoral head and/or acetabulum. METHODS: 10 patients who had undergone osteochondral allograft transplantation of the femoral head and/or acetabulum at our institution between 2013 and 2016 were identified from our Institutional Review Board-approved registry...
October 17, 2017: Hip International: the Journal of Clinical and Experimental Research on Hip Pathology and Therapy
https://www.readbyqxmd.com/read/29048554/social-risk-and-resilience-factors-in-adolescent-chronic-pain-examining-the-role-of-parents-and-peers
#19
Alexandra C Ross, Laura E Simons, Amanda B Feinstein, Isabel A Yoon, Rashmi P Bhandari
Objective: The current study focuses on social risk and resilience in an adolescent population with chronic pain. Prior research identifies parental cognitions and behaviors as influential in youths' experiences of chronic pain and pain-related disability. Adolescent development is characterized by greater autonomy from parents and an increased emphasis on peer relationships. Study aims explore the potential protective effect of high-quality adolescent peer relationships on associations between parent and adolescent cognitive and behavioral responses to pain...
September 23, 2017: Journal of Pediatric Psychology
https://www.readbyqxmd.com/read/29048551/rapid-screening-of-risk-in-pediatric-headache-application-of-the-pediatric-pain-screening-tool
#20
Lauren C Heathcote, Jonathan Rabner, Alyssa Lebel, Jessica M Hernandez, Laura E Simons
Objective: The current study examined the application of a screening tool to identify biopsychosocial risk factors and derive prognostic risk groups in children and adolescents with headache pain. Methods: Youth (n = 242, 8-17 years, 75.6% female) presenting for evaluation at a tertiary pediatric headache clinic completed the nine-item Pediatric Pain Screening Tool (PPST) as well as measures of functional disability, pain catastrophizing, fear of pain, anxiety, and depressive symptoms...
October 10, 2017: Journal of Pediatric Psychology
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