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https://www.readbyqxmd.com/read/28079318/duchenne-muscular-dystrophy-and-becker-muscular-dystrophy-confirmed-by-multiplex-ligation-dependent-probe-amplification-genotype-phenotype-correlation-in-a-large-cohort
#1
Seena Vengalil, Veeramani Preethish-Kumar, Kiran Polavarapu, Manjunath Mahadevappa, Deepha Sekar, Meera Purushottam, Priya Treesa Thomas, Saraswathi Nashi, Atchayaram Nalini
BACKGROUND AND PURPOSE: Studies of cases of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) confirmed by multiplex ligation-dependent probe amplification (MLPA) have determined the clinical characteristics, genotype, and relations between the reading frame and phenotype for different countries. This is the first such study from India. METHODS: A retrospective genotype-phenotype analysis of 317 MLPA-confirmed patients with DMD or BMD who visited the neuromuscular clinic of a quaternary referral center in southern India...
January 2017: Journal of Clinical Neurology
https://www.readbyqxmd.com/read/28074391/etiologic-spectrum-and-functional-outcome-of-the-acute-inflammatory-myelitis
#2
Edgar Carnero Contentti, Javier Pablo Hryb, Ana Diego, José Luis Di Pace, Mónica Perassolo
Clinical, neuroimaging, and laboratory features are not specific enough to establish the etiological diagnosis of the acute inflammatory myelitis (AIM). Longitudinally extensive transverse myelitis (LETM) seen on magnetic resonance imaging (MRI) has been associated with a poor functional prognosis. The aim of this study was to assess the functional outcomes of a first AIM event comparing patients with LETM vs. no LETM on MRI and to report the differential diagnosis. Clinical, radiological, biochemical aspects were collected, and Winner-Hughes Functional Disability Scale (WHFDS) was performed after 3 and 6 months...
January 10, 2017: Acta Neurologica Belgica
https://www.readbyqxmd.com/read/28072705/posterior-only-vertebral-column-resection-for-revision-surgery-in-post-laminectomy-rotokyphoscoliosis-associated-with-late-onset-paraplegia-a-case-report-and-literature-review
#3
Youping Tao, Jigong Wu, Huasong Ma
RATIONALE: Severe post-laminectomy spinal deformity associated with late-onset paraplegia is a complex and rare disorder. Little is known about revision surgery in post-laminectomy rotokyphoscoliosis associated with late-onset paraplegia treated by the single stage posterior-only vertebral column resection (VCR) procedure. PATIENT CONCERNS AND DIAGNOSES: The patient was a 14-year-old male diagnosed as post-laminectomy rotokyphoscoliosis associated with late-onset paraplegia...
January 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28070628/osseointegrated-prosthetic-limb-for-the-treatment-of-lower-limb-amputations-experience-and-outcomes
#4
Munjed Al Muderis, William Lu, Jiao Jiao Li
BACKGROUND: Osseointegration has emerged over the past two decades as a dramatically different approach for the treatment of lower limb amputations, which involves direct attachment of the prosthesis to the skeletal residuum. This approach can address many of the socket-interface issues associated with socket prostheses which represent the current standard of care for amputees. The Osseointegrated Prosthetic Limb (OPL) is an osseointegration implant with a new design and improved features compared to other available implant systems...
January 9, 2017: Der Unfallchirurg
https://www.readbyqxmd.com/read/28054829/patterns-of-community-participation-across-the-seasons-a-year-long-case-study-of-three-canadian-wheelchair-users
#5
Jacquie Ripat, Jaimie F Borisoff, Lea E Grant, Franco H N Chan
PURPOSE: The aim of this study was to explore the patterns of wheelchair users' community participation across a one-year period, including periods with substantial differences in weather conditions. We sought to develop a detailed understanding of the patterns of, and influences on, wheelchair use and participation within wheelchair users' own communities. METHOD: We conducted an instrumental case study of three purposefully selected individuals who use a wheelchair...
January 5, 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/28054256/salivary-alpha-amylase-not-chromogranin-a-reflects-sympathetic-activity-exercise-responses-in-elite-male-wheelchair-athletes-with-or-without-cervical-spinal-cord-injury
#6
Christof A Leicht, Thomas A W Paulson, Victoria L Goosey-Tolfrey, Nicolette C Bishop
BACKGROUND: Salivary alpha amylase (sAA) and chromogranin A (sCgA) have both been suggested as non-invasive markers for sympathetic nervous system (SNS) activity. A complete cervical spinal cord injury leading to tetraplegia is accompanied with sympathetic dysfunction; the aim of this study was to establish the exercise response of these markers in this in vivo model. METHODS: Twenty-six elite male wheelchair athletes (C6-C7 tetraplegia: N = 8, T6-L1 paraplegia: N = 10 and non-spinal cord injured controls: N = 8) performed treadmill exercise to exhaustion...
December 2017: Sports Medicine—Open
https://www.readbyqxmd.com/read/28052465/respiratory-impairment-in-multiple-sclerosis-a-study-of-respiratory-function-in-wheelchair-bound-patients
#7
J Levy, D Bensmail, A Brotier-Chomienne, S Butel, C Joussain, C Hugeron, H Prigent
BACKGROUND AND PURPOSE: Respiratory disorders are a major cause of morbidity and mortality in multiple sclerosis (MS). Mainly reported in walking patients, they are poorly explored when walking is severely impaired. To characterize respiratory impairment in patients with advanced MS. METHODS: From 2012 to 2015, patients with MS with an Expanded Disability Status Scale (EDSS) score of ≥7 who were referred for functional and rehabilitation evaluation underwent pulmonary function tests to study lung volumes, cough efficacy and respiratory muscle pressures...
January 3, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28008363/muscular-activity-and-physical-interaction-forces-during-lower-limb-exoskeleton-use
#8
Matthew Wilcox, Ashish Rathore, Dafne Zuleima Morgado Ramirez, Rui C V Loureiro, Tom Carlson
Spinal cord injury (SCI) typically manifests with a loss of sensorimotor control of the lower limbs. In order to overcome some of the disadvantages of chronic wheelchair use by such patients, robotic exoskeletons are an emerging technology that has the potential to transform the lives of patients. However, there are a number of points of contact between the robot and the user, which lead to interaction forces. In a recent study, the authors have shown that peak interaction forces are particularly prominent at the anterior aspect of the right leg...
December 2016: Healthcare Technology Letters
https://www.readbyqxmd.com/read/28008362/sensewheel-an-adjunct-to-wheelchair-skills-training
#9
Andrew Symonds, Stephen J G Taylor, Catherine Holloway
The purpose of this Letter was to investigate the influence of real-time verbal feedback to optimise push arc during over ground manual wheelchair propulsion. Ten healthy non-wheelchair users pushed a manual wheelchair for a distance of 25 m on level paving, initially with no feedback and then with real-time verbal feedback aimed at controlling push arc within a range of 85°-100°. The real-time feedback was provided by a physiotherapist walking behind the wheelchair, viewing real-time data on a tablet personal computer received from the Sensewheel, a lightweight instrumented wheelchair wheel...
December 2016: Healthcare Technology Letters
https://www.readbyqxmd.com/read/28004412/conceptualization-of-physical-exercise-and-keeping-fit-by-child-wheelchair-users-and-their-parents
#10
Jane Noyes, Llinos Haf Spencer, Nathan Bray, Hans-Peter Kubis, Richard P Hastings, Matthew Jackson, Thomas D O'Brien
AIM: To gain a better understanding of how children aged 6-18 years who use wheelchairs and their families conceptualized physical exercise and keeping fit. BACKGROUND: Disabled children with reduced mobility are commonly overweight and unfit. Nurse-led health screening programmes in schools commonly exclude disabled children if they cannot use standard weighing scales or stand against height measuring sticks. DESIGN: Qualitative interview study at two time points over 6 months with children who use wheelchairs and their families...
November 16, 2016: Journal of Advanced Nursing
https://www.readbyqxmd.com/read/28002472/manual-wheelchair-skills-training-for-community-dwelling-veterans-with-spinal-cord-injury-a-randomized-controlled-trial
#11
R Lee Kirby, Doug Mitchell, Sunil Sabharwal, Mark McCranie, Audrey L Nelson
OBJECTIVES: To test the hypotheses that community-dwelling veterans with spinal cord injury (SCI) who receive the Wheelchair Skills Training Program (WSTP) in their own environments significantly improve their manual wheelchair-skills capacity, retain those improvements at one year and improve participation in comparison with an Educational Control (EC) group. METHODS: We carried out a randomized controlled trial, studying 106 veterans with SCI from three Veterans Affairs rehabilitation centers...
2016: PloS One
https://www.readbyqxmd.com/read/27998205/2015-parapan-american-games-autonomic-function-but-not-physical-activity-is-associated-with-vascular-cognitive-impairment-in-spinal-cord-injury
#12
Aaron A Phillips, Jordan W Squair, Katharine Dianne Currie, Shieak Tzeng, Phil Ainslie, Andrei V Krassioukov
Autonomic dysfunction and diminished capacity for physical exercise are commonly implicated in the 3-4 fold increased risk of cerebrovascular disease after spinal cord injury (SCI). We assessed cerebrovascular function [transcranial Doppler; neurovascular coupling (NVC) and cerebral pressure-flow regulation] in elite national level wheelchair rugby players (n=23), normally active SCI individuals (n=12), and able-bodied controls (n=13). Cognitive (Stroop) and autonomic function (postural change) was also evaluated...
December 21, 2016: Journal of Neurotrauma
https://www.readbyqxmd.com/read/27997674/validity-of-activity-monitors-in-wheelchair-users-a-systematic-review
#13
KaLai Tsang, Shivayogi V Hiremath, Theresa M Crytzer, Brad E Dicianno, Dan Ding
Assessing physical activity (PA) in manual wheelchair users (MWUs) is challenging because of their different movement patterns in comparison to the ambulatory population. The aim of this review was to investigate the validity of portable monitors in quantifying PA in MWUs. A systematic literature search was performed. The data source was full reports of validation and evaluation studies in peer-reviewed journals and conference proceedings. Eligible articles between January 1, 1999, and September 18, 2015, were identified in three databases: PubMed, Institute of Electrical and Electronics Engineers, and Scopus...
2016: Journal of Rehabilitation Research and Development
https://www.readbyqxmd.com/read/27988329/wheelchair-pushrim-kinetics-measurement-a-method-to-cancel-inaccuracies-due-to-pushrim-weight-and-wheel-camber
#14
Félix Chénier, Rachid Aissaoui, Cindy Gauthier, Dany H Gagnon
The commercially available SmartWheel(TM) is largely used in research and increasingly used in clinical practice to measure the forces and moments applied on the wheelchair pushrims by the user. However, in some situations (i.e. cambered wheels or increased pushrim weight), the recorded kinetics may include dynamic offsets that affect the accuracy of the measurements. In this work, an automatic method to identify and cancel these offsets is proposed and tested. First, the method was tested on an experimental bench with different cambers and pushrim weights...
December 14, 2016: Medical Engineering & Physics
https://www.readbyqxmd.com/read/27982717/intelligent-power-wheelchair-use-in-long-term-care-potential-users-experiences-and-perceptions
#15
Paula W Rushton, Ben W Mortenson, Pooja Viswanathan, Rosalie H Wang, William C Miller, Laura Hurd Clarke
PURPOSE: Long-term care (LTC) residents with cognitive impairments frequently experience limited mobility and participation in preferred activities. Although a power wheelchair could mitigate some of these mobility and participation challenges, this technology is often not prescribed for this population due to safety concerns. An intelligent power wheelchair (IPW) system represents a potential intervention that could help to overcome these concerns. The purpose of this study was to explore a) how residents experienced an IPW that used three different modes of control and b) what perceived effect the IPW would have on their daily lives...
December 16, 2016: Disability and Rehabilitation. Assistive Technology
https://www.readbyqxmd.com/read/27980323/intrathecal-analgesic-drug-delivery-is-effective-for-analgesia-in-a-patient-with-post-poliomyelitis-syndrome-a-case-report
#16
Cornelis W J van Tilburg
BACKGROUND Post-poliomyelitis syndrome (PPS) is a progressive neuromuscular syndrome, with chronic pain being one of the most prevalent symptoms. We present a case report on intrathecal analgesic drug delivery to diminish chro-nic, refractory pain in a patient with PPS. CASE REPORT In a wheelchair-bound 45-year-old female patient (Caucasian, body mass index [BMI] 20.5) with severe chronic, refractory pain, a Synchromed® II pump (Medtronic, Minneapolis, Minnesota, USA) was implanted after multidisciplinary consultation and a successful trial period...
December 16, 2016: American Journal of Case Reports
https://www.readbyqxmd.com/read/27977642/quickstats-use-of-equipment-or-assistance-for-getting-around-among-persons-aged-%C3%A2-50-years-national-health-interview-survey-2014-2015%C3%A2
#17
(no author information available yet)
In 2014-2015, 13.9% of persons aged ≥50 years used equipment or received assistance for getting around. Specifically, 9.6% of persons aged ≥50 years used a cane or walking stick, 5.8% used a walker or Zimmer frame, and 5.3% had assistance from another person. Wheelchairs or scooters were used by 3.5%, crutches by 0.7%, and artificial limbs by 0.6%.
December 16, 2016: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/27974813/comparison-of-the-phenotypes-of-patients-harboring-in-frame-deletions-starting-at-exon-45-in-the-duchenne-muscular-dystrophy-gene-indicates-potential-for-the-development-of-exon-skipping-therapy
#18
Akinori Nakamura, Naoko Shiba, Daigo Miyazaki, Hitomi Nishizawa, Yuji Inaba, Noboru Fueki, Rika Maruyama, Yusuke Echigoya, Toshifumi Yokota
Exon skipping therapy has recently received attention for its ability to convert the phenotype of lethal Duchenne muscular dystrophy (DMD) to a more benign form, Becker muscular dystrophy (BMD), by correcting the open reading frame. This therapy has mainly focused on a hot-spot (exons 45-55) mutation in the DMD gene. Exon skipping of an entire stretch of exons 45-55 is an approach applicable to 46.9% of DMD patients. However, the resulting phenotype is not yet fully understood. Here we examined the clinical profiles of 24 patients with BMD resulting from deletions starting at exon 45...
December 15, 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/27973679/effect-on-body-composition-and-bone-mineral-density-of-walking-with-a-robotic-exoskeleton-in-adults-with-chronic-spinal-cord-injury
#19
Antony D Karelis, Lívia Pinheiro Carvalho, Manuel Jose Castillo, Dany H Gagnon, Mylène Aubertin-Leheudre
OBJECTIVE: To examine the effect on body composition and bone mineral density of locomotor training using a robotic exoskeleton in individuals with spinal cord injury. STUDY DESIGN: Interventional study. SUBJECTS/METHODS: Five adults with a non-progressive traumatic complete sensorimotor spinal cord injury who were using a wheelchair as a primary mode of mobility. Participants performed a personalized 6-week progressive locomotor training programme using a robotic exoskeleton 3 times/week for up to 60 min...
December 14, 2016: Journal of Rehabilitation Medicine
https://www.readbyqxmd.com/read/27967276/the-impact-of-an-assistive-pole-seat-configuration-and-strength-in-paralympic-seated-throwing
#20
Alysha Hyde, Luke Hogarth, Mark Sayers, Emma Beckman, Mark J Connick, Sean Tweedy, Brendan Burkett
PURPOSE: This study quantified the influence of (i) the assistive pole, (ii) seat configuration, and (iii) upper-body and trunk strength, on seated throwing performance in athletes with a spinal cord injury. METHODS: Ten Paralympic athletes competing in wheelchair rugby, wheelchair basketball or athletics (seated throws) participated in two randomised sessions; seated throwing and strength tests. Participants threw a club from a custom-built throwing chair, with and without a pole...
December 14, 2016: International Journal of Sports Physiology and Performance
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