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https://www.readbyqxmd.com/read/28716012/case-reports-of-juvenile-gm1-gangliosidosisis-type-ii-caused-by-mutation-in-glb1-gene
#1
Parvaneh Karimzadeh, Samaneh Naderi, Farzaneh Modarresi, Hassan Dastsooz, Hamid Nemati, Tayebeh Farokhashtiani, Bibi Shahin Shamsian, Soroor Inaloo, Mohammad Ali Faghihi
BACKGROUND: Type II or juvenile GM1-gangliosidosis is an autosomal recessive lysosomal storage disorder, which is clinically distinct from infantile form of the disease by the lack of characteristic cherry-red spot and hepatosplenomegaly. The disease is characterized by slowly progressive neurodegeneration and mild skeletal changes. Due to the later age of onset and uncharacteristic presentation, diagnosis is frequently puzzled with other ataxic and purely neurological disorders. Up to now, 3-4 types of GM1-gangliosidosis have been reported and among them type I is the most common phenotype with the age of onset around 6 months...
July 17, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28712004/a-comparison-of-perceptions-of-quality-of-life-among-adults-with-spinal-cord-injury-in-the-united-states-versus-the-united-kingdom
#2
Alina Palimaru, William E Cunningham, Marcus Dillistone, Arturo Vargas-Bustamante, Honghu Liu, Ron D Hays
PURPOSE: To identify which aspects of life are most important to adults with spinal cord injury (SCI) and compare perspectives in the United States and the United Kingdom. METHODS: We conducted 20 in-depth interviews with adults with SCI (ten in the US and ten in the UK). Verbatim transcriptions were independently analyzed line-by-line by two coders using an inductive approach. Codes were grouped into themes about factors that constitute and affect quality of life (QOL)...
July 15, 2017: Quality of Life Research
https://www.readbyqxmd.com/read/28708562/non-model-based-control-of-a-wheeled-vehicle-pulling-two-trailers-to-provide-early-powered-mobility-and-driving-experiences
#3
David A Sanders Td Vr
Non-model-based control of a wheeled vehicle pulling two trailers is presented. It is a fun train for disabled children consisting of a locomotive and two carriages. The fun train has afforded opportunities for both disabled and able bodied young people to share an activity and has provided early driving experiences for disabled children; it has introduced them to assistive and powered mobility. The train is a nonlinear system and subject to nonholonomic kinematic constraints so that position and state depend on the path taken to get there...
July 12, 2017: IEEE Transactions on Neural Systems and Rehabilitation Engineering
https://www.readbyqxmd.com/read/28666000/dynamic-wheelchair-seating-positions-impact-cardiovascular-function-after-spinal-cord-injury
#4
Jessica A Inskip, Henrike Rianne J C Ravensbergen, Inderjeet S Sahota, Christine Zawadzki, Lowell T McPhail, Jaimie F Borisoff, Victoria E Claydon
BACKGROUND: Innovative wheelchairs allow individuals to change position easily for comfort and social situations. While these wheelchairs are beneficial in multiple ways, the effects of position changes on blood pressure might exacerbate hypotension and cerebral hypoperfusion, particularly in those with spinal cord injury (SCI) who can have injury to autonomic nerves that regulate cardiovascular control. Conversely, cardiovascular benefits may be obtained with lowered seating. Here we investigate the effect of moderate changes in wheelchair position on orthostatic cardiovascular and cerebrovascular reflex control...
2017: PloS One
https://www.readbyqxmd.com/read/28664759/the-psychosocial-impact-of-wheelchair-tennis-on-participants-from-developing-countries
#5
Emma V Richardson, Anthony Papathomas, Brett Smith, Victoria L Goosey-Tolfrey
PURPOSE: Individuals with physical disabilities in developing countries can experience many instances of psychosocial hardship. Although scholars have suggested that participation in sport can positively impact psychosocial health, few studies have explored this phenomenon within the disabled population of developing nations. METHODS: Sixteen wheelchair tennis players were recruited across six developing countries and interviewed in regards to their experiences...
January 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/28662364/data-logger-technologies-for-powered-wheelchairs-a-scoping-review
#6
François Routhier, Josiane Lettre, William C Miller, Jaimie F Borisoff, Kate Keetch, Ian M Mitchell, The CanWheel Research Team
In recent years, studies have increasingly employed data loggers to record the objective behaviours of powered wheelchair users. Of the data logging work reported in the literature, the technologies used offer marked differences in characteristics. In order to identify and describe the extent of published research activity that relies on data logger technologies for powered wheelchairs, we performed a scoping review of the scientific and grey literature. This scoping review, complementary to a previous one related to manual wheelchairs, is part of a process aiming to help further the development and increase the functionality of data loggers with wheelchairs...
June 29, 2017: Assistive Technology: the Official Journal of RESNA
https://www.readbyqxmd.com/read/28654051/experimental-protocol-of-a-three-minute-all-out-arm-crank-exercise-test-in-spinal-cord-injured-and-able-bodied-individuals
#7
Joelle L Flueck
Reliable exercise protocols are required to test changes in exercise performance in elite athletes. Performance improvements in these athletes may be small; therefore, sensitive tools are fundamental to exercise physiology. There are currently many exercise tests that allow for the examination of exercise capacity in able-bodied athletes, with protocols mainly for lower-body or whole-body exercise. There is a trend to test athletes in a sport-specific setting that closely resembles the actions that the participants are used to performing...
June 8, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28644398/a-novel-wearable-forehead-eog-measurement-system-for-human-computer-interfaces
#8
Jeong Heo, Heenam Yoon, Kwang Suk Park
Amyotrophic lateral sclerosis (ALS) patients whose voluntary muscles are paralyzed commonly communicate with the outside world using eye movement. There have been many efforts to support this method of communication by tracking or detecting eye movement. An electrooculogram (EOG), an electro-physiological signal, is generated by eye movements and can be measured with electrodes placed around the eye. In this study, we proposed a new practical electrode position on the forehead to measure EOG signals, and we developed a wearable forehead EOG measurement system for use in Human Computer/Machine interfaces (HCIs/HMIs)...
June 23, 2017: Sensors
https://www.readbyqxmd.com/read/28637129/patient-reported-outcomes-in-gne-myopathy-incorporating-a-valid-assessment-of-physical-function-in-a-rare-disease
#9
Christina Slota, Margaret Bevans, Li Yang, Joseph Shrader, Galen Joe, Nuria Carrillo
BACKGROUND: The aim of this analysis was to evaluate the psychometric properties of three patient reported outcome (PRO) measures characterizing physical function in GNE myopathy: the Human Activity Profile, the Inclusion Body Myositis Functional Rating Scale, and the Activities-specific Balance Confidence scale. METHODS: This analysis used data from 35 GNE myopathy subjects participating in a natural history study. For construct validity, correlational and known-group analyses were between the PROs and physical assessments...
February 7, 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/28629390/results-of-the-first-interim-analysis-of-the-rapper-ii-trial-in-patients-with-spinal-cord-injury-ambulation-and-functional-exercise-programs-in-the-rex-powered-walking-aid
#10
Nick Birch, Jon Graham, Tom Priestley, Chris Heywood, Mohamed Sakel, Angela Gall, Andrew Nunn, Nada Signal
BACKGROUND: The RAPPER II study investigates the feasibility, safety and acceptability of using the REX self-stabilising robotic exoskeleton in people with spinal cord injury (SCI) who are obligatory wheelchair users. Feasibility is assessed by the completion of transfer into the REX device, competency in achieving autonomous control and completion of upper body exercise in an upright position in the REX device. Safety is measured by the occurrence of serious adverse events. Device acceptability is assessed with a user questionnaire...
June 19, 2017: Journal of Neuroengineering and Rehabilitation
https://www.readbyqxmd.com/read/28617820/defining-health-related-quality-of-life-for-young-wheelchair-users-a-qualitative-health-economics-study
#11
Nathan Bray, Jane Noyes, Nigel Harris, Rhiannon Tudor Edwards
BACKGROUND: Wheelchairs for children with impaired mobility provide health, developmental and psychosocial benefits, however there is limited understanding of how mobility aids affect the health-related quality of life of children with impaired mobility. Preference-based health-related quality of life outcome measures are used to calculate quality-adjusted life years; an important concept in health economics. The aim of this research was to understand how young wheelchair users and their parents define health-related quality of life in relation to mobility impairment and wheelchair use...
2017: PloS One
https://www.readbyqxmd.com/read/28601293/from-dizziness-to-severe-ataxia-and-dysarthria-new-cases-of-anti-ca-arhgap26-autoantibody-associated-cerebellar-ataxia-suggest-a-broad-clinical-spectrum
#12
Ulrike Wallwitz, Sebastian Brock, Antje Schunck, Brigitte Wildemann, Sven Jarius, Frank Hoffmann
In 2010, a novel anti-neuronal autoantibody, termed anti-Ca, was described in a patient with subacute cerebellar ataxia, and Rho GTPase-activating protein 26 (ARHGAP26) was identified as the target antigen. Recently, three additional cases of anti-Ca-positive cerebellar ataxia have been published. In addition to ataxia, cognitive decline and depression have been observed in some patients. Here, we report two new cases of anti-Ca-associated autoimmune cerebellar ataxia. Patient 1 presented with dizziness and acute yet mild limb and gait ataxia...
August 15, 2017: Journal of Neuroimmunology
https://www.readbyqxmd.com/read/28586377/psychometric-properties-of-a-power-mobility-caregiver-assistive-technology-outcome-measure
#13
W Ben Mortenson, Louise Demers, Paula W Rushton, Claudine Auger, François Routhier, William C Miller
Caregiver burnout is a serious concern among informal caregivers, especially for those who provide care to individuals with more severe limitations such as power mobility users. The Power Wheelchair Caregiver Assistive Technology Outcome Measure tool measures device specific and overall burden experienced by informal caregivers of power mobility users. A one-month, test-retest study was conducted to examine the reliability, internal consistency, and construct validity of the Power Wheelchair Caregiver Assistive Technology Outcome Measure...
2017: PloS One
https://www.readbyqxmd.com/read/28530452/overground-propulsion-kinematics-and-acceleration-in-elite-wheelchair-rugby
#14
David S Haydon, Ross A Pinder, Paul N Grimshaw, William S P Robertson
PURPOSE: Maximal acceleration from standstill has been identified as a key performance indicator in wheelchair rugby; however, the impact of classification and kinematic variables on performance has received limited attention. This study aimed to investigate kinematic variables during maximal acceleration, with level of activity limitation accounted for using sport classification scores. METHODS: 25 elite wheelchair rugby players were analysed in high-, mid-, and low-point groups based on their sporting classification score, which reflects the combined trunk, arm, and hand function, before completing five 5m sprints from a stationary position...
May 22, 2017: International Journal of Sports Physiology and Performance
https://www.readbyqxmd.com/read/28479912/locally-manufactured-wheelchairs-in-tanzania-are-users-satisfied
#15
Seyi Amosun, Aston Ndosi, Helen Buchanan
BACKGROUND: The government of Tanzania created opportunity for the production of wheelchairs that would be appropriate to the local needs and environment. OBJECTIVES: The study assessed the extent to which the wheelchairs met the activity and participation needs of the users, as well as the users' level of satisfaction with the provision, repair and maintenance of these wheelchairs. METHODS: A descriptive cross-sectional analytical design was utilized to collect data through the administration of a questionnaire among 75 adult wheelchair users...
December 2016: African Health Sciences
https://www.readbyqxmd.com/read/28410868/quantifying-cardiorespiratory-responses-resulting-from-speed-and-slope-increments-during-motorized-treadmill-propulsion-among-manual-wheelchair-users
#16
Cindy Gauthier, Murielle Grangeon, Ludivine Ananos, Rachel Brosseau, Dany H Gagnon
BACKGROUND: Cardiorespiratory fitness assessment and training among manual wheelchair (MW) users are predominantly done with an arm-crank ergometer. However, arm-crank ergometer biomechanics differ substantially from MW propulsion biomechanics. This study aimed to quantify cardiorespiratory responses resulting from speed and slope increments during MW propulsion on a motorized treadmill and to calculate a predictive equation based on speed and slope for estimating peak oxygen uptake (VO2peak) in MW users...
April 11, 2017: Annals of Physical and Rehabilitation Medicine
https://www.readbyqxmd.com/read/28379744/the-meaning-ascribed-to-wheeled-mobility-devices-by-individuals-who-use-wheelchairs-and-scooters-a-metasynthesis
#17
Jacquie Ripat, Michele Verdonck, Roger Jaffrey Carter
PURPOSE: To synthesize qualitative study findings on the meaning ascribed to wheelchairs and wheeled mobility devices (WMD) by WMD users. METHOD: Bibliographic databases were systematically searched up to January 2015 to identify relevant papers. Reviewers selected studies, assessed methodological quality and thematically synthesized findings using a metasynthesis process described by Thomas and Harden (2008). RESULTS: Twenty articles were included...
April 5, 2017: Disability and Rehabilitation. Assistive Technology
https://www.readbyqxmd.com/read/28379165/performance-assessment-of-a-humidity-measurement-system-and-its-use-to-evaluate-moisture-characteristics-of-wheelchair-cushions-at-the-user-seat-interface
#18
Zhuofu Liu, Haifeng Cheng, Zhongming Luo, Vincenzo Cascioli, Andrew I Heusch, Nadia R Nair, Peter W McCarthy
Little is known about the changes in moisture that occur at the body-seat interface during sitting. However, as increased moisture can add to the risk of skin damage, we have developed an array of MEMS (Micro-Electro-Mechanical System) humidity sensors to measure at this interface. Sensors were first evaluated against traceable standards, followed by use in a cross-over field test (n = 11; 20 min duration) using different wheelchair cushions (foam and gel). Relative humidity (RH) was measured at the left mid-thigh, right mid-thigh and coccyx...
April 5, 2017: Sensors
https://www.readbyqxmd.com/read/28366027/detecting-destabilizing-wheelchair-conditions-for-maintaining-seated-posture
#19
Anna Crawford, Kiley Armstrong, Kenneth Loparo, Musa Audu, Ronald Triolo
PURPOSE: The purpose of this study was to detect and classify potentially destabilizing conditions encountered by manual wheelchair users with spinal cord injuries (SCI) to dynamically increase stability and prevent falls. METHODS: A volunteer with motor complete T11 paraplegia repeatedly propelled his manual wheelchair over level ground and simulated destabilizing conditions including sudden stops, bumps and rough terrain. Wireless inertial measurement units attached to the wheelchair frame and his sternum recorded associated accelerations and angular velocities...
April 1, 2017: Disability and Rehabilitation. Assistive Technology
https://www.readbyqxmd.com/read/28346029/reasons-for-using-power-tilt-perspectives-from-clients-and-therapists
#20
Laura C Titus, Janice Miller Polgar
PURPOSE: A power tilt wheelchair allows independence in changing body position to address a variety of needs throughout the day; however, literature and clinical practice suggest that actual use varies greatly. This grounded theory study examined how power tilt was used in daily life from the perspectives of adults who used power tilt and therapists who prescribed this technology. METHODS: A constant comparative approach was used to collect and analyze interview data from five people who use power tilt and six therapists who prescribe this technology...
March 27, 2017: Disability and Rehabilitation. Assistive Technology
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