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Disability progression

Lyndell L Lim, Diego G Silva, Tiffany C Lo, Ronald S Pimentel, Helmut Butzkueven, Anthony J Hall
OBJECTIVE: To determine the incidence and prevalence of uveitis and its effect on multiple sclerosis (MS) disease activity and outcomes in patients with MS who participated in the fingolimod clinical trial program. DESIGN: Analysis of pooled data (N = 27 528) from patients enrolled in fingolimod clinical studies and their extensions. Patients were stratified into four cohorts based on the history of uveitis at baseline and uveitis events during the observation period: no history and no uveitis events ('no uveitis'); history and no uveitis events ('history'); no history and uveitis events ('first event'); history and uveitis events ('recurrent event')...
October 10, 2018: Ophthalmology
Natalia Gonzalez Caldito, Shiv Saidha, Elias S Sotirchos, Blake E Dewey, Norah J Cowley, Jeffrey Glaister, Kathryn C Fitzgerald, Omar Al-Louzi, James Nguyen, Alissa Rothman, Esther Ogbuokiri, Nicholas Fioravante, Sydney Feldman, Ohemaa Kwakyi, Hunter Risher, Dorlan Kimbrough, Teresa C Frohman, Elliot Frohman, Laura Balcer, Ciprian Crainiceanu, Peter C M Van Zijl, Ellen M Mowry, Daniel S Reich, Jiwon Oh, Dzung L Pham, Jerry Prince, Peter A Calabresi
On average, African Americans with multiple sclerosis demonstrate higher inflammatory disease activity, faster disability accumulation, greater visual dysfunction, more pronounced brain tissue damage and higher lesion volume loads compared to Caucasian Americans with multiple sclerosis. Neurodegeneration is an important component of multiple sclerosis, which in part accounts for the clinical heterogeneity of the disease. Brain atrophy appears to be widespread, although it is becoming increasingly recognized that regional substructure atrophy may be of greater clinical relevance...
October 11, 2018: Brain: a Journal of Neurology
Yuri M Falzone, Marta Campagnolo, Mariangela Bianco, Patrizia Dacci, Daniele Martinelli, Marta Ruiz, Silvia Bocci, Federica Cerri, Angelo Quattrini, Giancarlo Comi, Luana Benedetti, Fabio Giannini, Giuseppe Lauria, Eduardo Nobile-Orazio, Chiara Briani, Raffaella Fazio, Nilo Riva
Although anti-myelin-associated glycoprotein (MAG) antibody neuropathy is reported as a slowly progressive disease, it can lead to significant disability and impairment of health-related quality of life (HR-QoL) and social participation. The aim of this cross-sectional study was to evaluate the functioning and HR-QoL determinants in 67 patients with anti-MAG neuropathy in terms of the International Classification of Functioning, Disability, and Health (ICF). Evaluations included: Medical Research Council (MRC) sum score, Sensory Modality Sum score (SMS), Berg balance scale (BBS), Fatigue Severity Scale (FSS), Visual Analogue Scale (VAS) for pain, 9-Hole Peg Test (9-HPT), 6-min Walk Distance (6MWD), Impact on Participation and Autonomy (IPA) and the physical component score (PCS) and mental component score (MCS) of the short-form-36 health status scale (SF-36) HR-QoL measure...
October 10, 2018: Journal of Neurology
Anna Adam, Grigoris Kiosseoglou, Grigoris Abatzoglou, Zaira Papaligoura
Background: Children with learning disabilities are a heterogeneous group of children with a common characteristic discrepancy on the progress and development of their individual learning abilities. A few statistical analyses have been published regarding the factor analysis of the Greek Edition of Wechsler Intelligence Scale for Children-III. The aim of the research is the emergence of a new factorial model which describes the General Intelligence (g) of children and adolescents with learning disabilities, and that differs from the already existing intelligence models...
2018: Annals of General Psychiatry
Kiran Shah, Ashley G Zhao, Huseyin Sumer
Osteoarthritis is one of the most common chronic health problems in the world that causes disability and chronic pain with reduced mobility and is a progressive degenerative disease in weight-bearing joints such as the knee. The pathology of the joint resulting from OA includes loss of cartilage volume and cartilage lesions leading to inflammation of the articular joint structures; its incidence and progression are associated with a variety of risk factors. Most of the current treatments focus on symptom management such as physical and occupational therapies, pharmacological intervention for pain management, and surgical intervention with limited success and do not address nor halt the progression of the disease...
2018: Stem Cells International
Joakim Bergman, Joachim Burman, Jonathan D Gilthorpe, Henrik Zetterberg, Elena Jiltsova, Tommy Bergenheim, Anders Svenningsson
OBJECTIVES: To perform a phase 1b assessment of the safety and feasibility of intrathecally delivered rituximab as a treatment for progressive multiple sclerosis (PMS) and to evaluate the effect of treatment on disability and CSF biomarkers during a 1-year follow-up period. METHODS: Three doses of rituximab (25 mg with a 1-week interval) were administered in 23 patients with PMS via a ventricular catheter inserted into the right frontal horn and connected to a subcutaneous Ommaya reservoir...
October 10, 2018: Neurology
Graeme A M Nimmo, Sundararajan Venkatesh, Ashutosh K Pandey, Christian R Marshall, Lili-Naz Hazrati, Susan Blaser, Sohnee Ahmed, Jessie Cameron, Kamalendra Singh, Peter N Ray, Carolyn K Suzuki, Grace Yoon
LonP1 is crucial for maintaining mitochondrial proteostasis and mitigating cell stress. We identified a novel homozygous missense LONP1 variant, c.2282 C > T, (p.Pro761Leu), by whole-exome and Sanger sequencing in two siblings born to healthy consanguineous parents. Both siblings presented with stepwise regression during infancy, profound hypotonia and muscle weakness, severe intellectual disability and progressive cerebellar atrophy on brain imaging. Muscle biopsy revealed the absence of ragged-red fibers, which are often seen in mitochondrial DNA (mtDNA) diseases and other muscle disorders...
October 9, 2018: Human Molecular Genetics
Fernando Gracia, Mario Larreategui, Gaudencio Rodríguez, Aaron Benzadón, Michelle Ortiz, Divian Morales, Claudia Domínguez, Rosa Enith Carrillo, Carlos Valderrama, Luís Lizán, Blas Armién
The purpose of this work is to estimate the costs associated with managing patients with MS in Panama and evaluating the impact of the disease on their health-related quality of life (HRQoL). Multicentric observational, retrospective, cross-sectional study. The costs were estimated from societal and patient perspectives and expressed in USD, 2015. The focus of the study is based on prevalence and on a "bottom-up" approach. To estimate the total cost per patient, annual reported use for each resource was multiplied by its unit cost...
2018: PloS One
Elizabeth A Mills, Joel A Begay, Caitlyn Fisher, Yang Mao-Draayer
Clinically effective immunomodulatory therapies have been developed for relapsing-remitting multiple sclerosis (RRMS), but they have generally not translated to a corresponding slowing of disability accumulation in progressive forms of multiple sclerosis (MS). Since disability is multifaceted, progressive patients are heterogeneous, and the drivers of disease progression are still unclear, it has been difficult to identify the most informative outcome measures for progressive trials. Historically, secondary outcome measures have focused on inflammatory measures, which contributed to the recent identification of immunomodulatory therapies benefiting younger patients with more inflammatory progressive MS...
October 10, 2018: Multiple Sclerosis: Clinical and Laboratory Research
Brittani L Conway, Burcu Zeydan, Uğur Uygunoğlu, Martina Novotna, Aksel Siva, Sean J Pittock, Elizabeth J Atkinson, Moses Rodriguez, Orhun H Kantarci
OBJECTIVE: To evaluate the impact of age on recovery from multiple sclerosis relapses. BACKGROUND: Increasing disability in multiple sclerosis is a consequence of progressive disease and incomplete relapse recovery. METHODS: The first and last-ever relapse data (357 relapses in 193 patients) from the Olmsted County population-based multiple sclerosis cohort were systematically reviewed for age, fulminance, location (optic nerve, brainstem/cerebellar, spinal cord), peak deficit, and maximum recovery...
October 10, 2018: Multiple Sclerosis: Clinical and Laboratory Research
Rosalind Kalb, Meghan Beier, Ralph Hb Benedict, Leigh Charvet, Kathleen Costello, Anthony Feinstein, Jeffrey Gingold, Yael Goverover, June Halper, Colleen Harris, Lori Kostich, Lauren Krupp, Ellen Lathi, Nicholas LaRocca, Ben Thrower, John DeLuca
PURPOSE: To promote understanding of cognitive impairment in multiple sclerosis (MS), recommend optimal screening, monitoring, and treatment strategies, and address barriers to optimal management. METHODS: The National MS Society ("Society") convened experts in cognitive dysfunction (clinicians, researchers, and lay people with MS) to review the published literature, reach consensus on optimal strategies for screening, monitoring, and treating cognitive changes, and propose strategies to address barriers to optimal care...
October 10, 2018: Multiple Sclerosis: Clinical and Laboratory Research
Ruopeng Sun, Ryan McGinnis, Jacob J Sosnoff
Mobility and balance impairments in patients with multiple sclerosis (MS) are major factors for decreased quality of life. Novel sensing technologies have great potential to efficiently capture subtle changes in mobility and balance performance, and thus improve current practices by providing an easy-to-implement, objective, and continuous functional tracking in MS population. Areas covered: This review details the collective findings of novel technology utilization in mobility and balance tracking in patients with MS...
October 10, 2018: Expert Review of Neurotherapeutics
Benjamin Marshall Davies, Colin Fraser Munro, Mark Kotter
BACKGROUND: Degenerative Cervical Myelopathy (DCM) is a common debilitating condition resulting from degeneration of the cervical spine. Whilst decompressive surgery can halt disease progression, existing spinal cord damage is often permanent, leaving patients with lifelong disability. Early surgery improves the likelihood of recovery, yet the average time from onset of symptoms to correct diagnosis is over 2 years. The majority of delays occur initially, before and within primary care, mainly due to a lack of recognition...
July 30, 2018: Journal of Medical Internet Research
Meaghan Walker, Amy C McPherson
INTRODUCTION: Overweight and obesity (OW/OB) rates are increasing among Canadian children and youth, with rates currently affecting one-third of 5-17 year olds. OW/OB is associated with numerous physical and psychosocial consequences, which are compounded when a child has a pre-existing disability. This is concerning considering children with disabilities experience OW/OB at two to three times the rate of their typically developing peers. While the number of weight management programs have been increasing, they are generally designed to meet the needs of typically developing children and often exclude children with disabilities...
October 9, 2018: Disability and Rehabilitation
Johannes Lorscheider, Jens Kuhle, Guillermo Izquierdo, Alessandra Lugaresi, Eva Havrdova, Dana Horakova, Raymond Hupperts, Pierre Duquette, Marc Girard, Alexandre Prat, François Grand'Maison, Pierre Grammond, Patrizia Sola, Diana Ferraro, Maria Trojano, Cristina Ramo-Tello, Jeanette Lechner-Scott, Eugenio Pucci, Claudio Solaro, Mark Slee, Vincent Van Pesch, José Luis Sánchez Menoyo, Anneke van der Walt, Helmut Butzkueven, Ludwig Kappos, Tomas Kalincik
BACKGROUND: Treatment options in primary progressive multiple sclerosis (PPMS) are scarce and, with the exception of ocrelizumab, anti-inflammatory agents failed to show efficacy in ameliorating disability progression. OBJECTIVE: To investigate a potential effect of anti-inflammatory disease modifying treatment on disability outcomes in PPMS. METHODS: Using MSBase, a large, international, observational database, we identified patients with PPMS who were either never treated or treated with a disease modifying agent...
October 9, 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
Alina Ilie, Andy Y L Gao, Annie Boucher, Jaeok Park, Albert M Berghuis, Mariëtte J V Hoffer, Yvonne Hilhorst-Hofstee, R Anne McKinney, John Orlowski
Loss-of-function mutations in the recycling endosomal (Na+ ,K+ )/H+ exchanger gene SLC9A6/NHE6 result in overacidification and dysfunction of endosomal-lysosomal compartments, and cause a neurodevelopmental and degenerative form of X-linked intellectual disability called Christianson Syndrome (CS). However, knowledge of the disease heterogeneity of CS is limited. Here, we describe the clinical features and underlying molecular and cellular mechanisms associated with a CS patient carrying a de novo missense variant (p...
October 5, 2018: Neurobiology of Disease
Jacob Rube, Robert P Lisak
No abstract text is available yet for this article.
October 8, 2018: Multiple Sclerosis: Clinical and Laboratory Research
Gilles Edan, Sandra Vukusic
No abstract text is available yet for this article.
October 8, 2018: Multiple Sclerosis: Clinical and Laboratory Research
Tomas Kalincik
No abstract text is available yet for this article.
October 8, 2018: Multiple Sclerosis: Clinical and Laboratory Research
Andrea Burgess, Roslyn N Boyd, Jenny Ziviani, Robert S Ware, Leanne Sakzewski
AIM: To describe longitudinal development of self-care and its relationship to manual ability in children with cerebral palsy (CP) aged 18 months to 5 years across all functional abilities. METHOD: This was a prospective longitudinal population-based study of 290 children with CP (178 [61%] males, 112 [39%] females). Self-care was assessed using the Pediatric Evaluation of Disability Inventory (PEDI). At 60 months (n=242), children were classified using the Manual Ability Classification System (MACS); 113 in level I (47%), 61 in MACS level II (25%), 24 in MACS level III (10%), 14 in MACS level IV (6%), and 30 in MACS level V (12%)...
October 7, 2018: Developmental Medicine and Child Neurology
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