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https://www.readbyqxmd.com/read/28916377/clinical-and-molecular-characterization-of-two-chinese-patients-with-type-2-congenital-generalized-lipodystrophy
#1
Ruimin Chen, Xin Yuan, Jian Wang, Ying Zhang
BACKGROUND: Type 2 congenital generalized lipodystrophy (CGL2, OMIM 269700) is a rare autosomal recessive disease, characterized by the generalized absence of adipose tissue at birth or in early infancy. Pathogenic variants in BSCL2 gene have been reported to be responsible for CGL2. The aim of this study is to analyze the clinical and genetic characteristics of two Chinese patients with CGL2, and with particular focus on the BSCL2 gene sequence variants. METHODS: Medical history, clinical manifestations, physical examination, laboratory data, and ultrasonography findings were analyzed for the two patients with CGL2...
September 12, 2017: Gene
https://www.readbyqxmd.com/read/28915856/exercise-prescription-for-patients-with-multiple-sclerosis-potential-benefits-and-practical-recommendations
#2
Farzin Halabchi, Zahra Alizadeh, Mohammad Ali Sahraian, Maryam Abolhasani
BACKGROUND: Multiple sclerosis (MS) can result in significant mental and physical symptoms, specially muscle weakness, abnormal walking mechanics, balance problems, spasticity, fatigue, cognitive impairment and depression. Patients with MS frequently decrease physical activity due to the fear from worsening the symptoms and this can result in reconditioning. Physicians now believe that regular exercise training is a potential solution for limiting the reconditioning process and achieving an optimal level of patient activities, functions and many physical and mental symptoms without any concern about triggering the onset or exacerbation of disease symptoms or relapse...
September 16, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28915343/identifying-preferred-format-and-source-of-exercise-information-in-persons-with-multiple-sclerosis-that-can-be-delivered-by-health-care-providers
#3
Yvonne C Learmonth, Brynn C Adamson, Julia M Balto, Chung-Yi Chiu, Isabel M Molina-Guzman, Marcia Finlayson, Barry J Riskin, Robert W Motl
BACKGROUND: There is increasing recognition of the benefits of exercise in individuals with multiple sclerosis (MS), yet the MS population does not engage in sufficient amounts of exercise to accrue health benefits. There has been little qualitative inquiry to establish the preferred format and source for receiving exercise information from health-care providers among persons with MS. OBJECTIVE: We sought to identify the desired and preferred format and source of exercise information for persons with MS that can be delivered through health-care providers...
October 2017: Health Expectations: An International Journal of Public Participation in Health Care and Health Policy
https://www.readbyqxmd.com/read/28914735/palliative-care-in-neuromuscular-diseases
#4
Marianne de Visser, David J Oliver
PURPOSE OF REVIEW: Palliative care is an approach that improves the quality of life of patients and their families facing the problem associated with life-threatening illness. Neuromuscular disorders (NMDs) are characterized by progressive muscle weakness, leading to pronounced and incapacitating physical disabilities. Most NMDs are not amenable to curative treatment and would thus qualify for palliative care. Amyotrophic lateral sclerosis is a relentlessly progressive disease, which leads to death about 2 years after onset due to respiratory muscle weakness...
September 13, 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28914719/physical-therapy-management-of-patients-with-chronic-low-back-pain-and-hip-abductor-weakness
#5
Seth Peterson, Thomas Denninger
BACKGROUND AND PURPOSE: Hip abductor dysfunction is common in individuals with chronic low back pain (CLBP). Previous research investigating abductor strengthening in the heterogeneous CLBP population is sparse and has failed to target those patients most likely to benefit. The aim of the current case series was to describe the physical therapy management and outcomes of 3 patients with CLBP matching a previously identified subgroup characterized by substantial hip abductor weakness. CASE DESCRIPTION: Three nonconsecutive patients with CLBP-a 77-year-old man, a 78-year-old woman, and an 85-year-old woman-were treated in an outpatient physical therapy clinic...
September 13, 2017: Journal of Geriatric Physical Therapy
https://www.readbyqxmd.com/read/28914487/illness-perceptions-explain-the-variance-in-functional-disability-but-not-habitual-physical-activity-in-patients-with-chronic-low-back-pain-a-cross-sectional-study
#6
Marijke Leysen, Jo Nijs, Paul Van Wilgen, Filip Struyf, Mira Meeus, Erik Fransen, Christophe Demoulin, Rob Smeets, Nathalie A Roussel
INTRODUCTION: Although the importance of psychosocial factors has been highlighted in many studies in patients with chronic low back pain (CLBP), there is a lack of research examining the role of illness perceptions in explaining functional disability and physical activity in patients with CLBP. AIM: The aim of the study was to explore the value of illness perceptions in explaining functional disability and physical activity in patients with CLBP. METHODS: Eighty-four participants with CLBP (> 3 months) completed a battery of questionnaires investigating psychosocial factors (pain catastrophizing scale (PCS), illness perceptions questionnaire revised (IPQ-R) and SF-36 mental health scale (SF-36_MH)) as well as the perceived pain intensity (VAS), Oswestry Disability Index (ODI) and Baecke questionnaire...
September 15, 2017: Pain Practice: the Official Journal of World Institute of Pain
https://www.readbyqxmd.com/read/28914116/defining-a-core-outcome-set-for-adolescent-and-young-adult-patients-with-a-spinal-deformity
#7
Marinus de Kleuver, Sayf S A Faraj, Roderick M Holewijn, Niccole M Germscheid, Raphael D Adobor, Mikkel Andersen, Hans Tropp, Benny Dahl, Heli Keskinen, Anders Olai, David W Polly, Miranda L van Hooff, Tsjitske M Haanstra
Background and purpose - Routine outcome measurement has been shown to improve performance in several fields of healthcare. National spine surgery registries have been initiated in 5 Nordic countries. However, there is no agreement on which outcomes are essential to measure for adolescent and young adult patients with a spinal deformity. The aim of this study was to develop a core outcome set (COS) that will facilitate benchmarking within and between the 5 countries of the Nordic Spinal Deformity Society (NSDS) and other registries worldwide...
September 15, 2017: Acta Orthopaedica
https://www.readbyqxmd.com/read/28912631/subacute-effects-of-cervicothoracic-spinal-thrust-non-thrust-in-addition-to-shoulder-manual-therapy-plus-exercise-intervention-in-individuals-with-subacromial-impingement-syndrome-a-prospective-randomized-controlled-clinical-trial-pilot-study
#8
Alexis A Wright, Megan Donaldson, Craig A Wassinger, Alicia J Emerson-Kavchak
OBJECTIVES: To determine the subacute effects of cervicothoracic spinal thrust/non-thrust in addition to shoulder non-thrust plus exercise in patients with subacromial pathology. METHODS: This was a randomized, single blinded controlled trial pilot study. This trial was registered at ClinicalTrials.gov (NCT01753271) and reported according to Consolidated Standards of Reporting Trials requirements. Patients were randomly assigned to either shoulder treatment plus cervicothoracic spinal thrust/non-thrust or shoulder treatment-only group...
September 2017: Journal of Manual & Manipulative Therapy
https://www.readbyqxmd.com/read/28912625/cognitive-impairment-in-relapsing-remitting-multiple-sclerosis-patients-with-very-mild-clinical-disability
#9
S Migliore, A Ghazaryan, I Simonelli, P Pasqualetti, F Squitieri, G Curcio, D Landi, M G Palmieri, F Moffa, M M Filippi, F Vernieri
Cognitive dysfunction affects 40-65% of multiple sclerosis (MS) patients and can occur in the early stages of the disease. This study aimed to explore cognitive functions by means of the Italian version of the minimal assessment of cognitive function in MS (MACFIMS) in relapsing-remitting MS (RRMS) patients with very mild clinical disability to identify the primarily involved cognitive functions. Ninety-two consecutive RRMS patients with Expanded Disability Status Scale (EDSS) scores ≤ 2.5 and forty-two healthy controls (HC) were investigated...
2017: Behavioural Neurology
https://www.readbyqxmd.com/read/28911961/sociocultural-considerations-in-juvenile-arthritis-a-review
#10
REVIEW
Kimberly A Lewis, Sharon A Brown, Stefano Tiziani, Ruy Carrasco
PROBLEM: Juvenile Arthritis (JA) is one of the most common autoimmune diseases in children. A variety of sociocultural factors that influence health outcomes in children with JA have been examined in previous research. However, clinical guidelines to guide the care of these children lack support because this research has not been systematically examined and synthesized. ELIGIBILITY CRITERIA: Primary research articles from five internet databases were included if they were peer-reviewed articles in English of studies conducted in the U...
September 11, 2017: Journal of Pediatric Nursing
https://www.readbyqxmd.com/read/28911936/exercise-training-in-patients-with-pulmonary-and-systemic-hypertension-a-unique-therapy-for-two-different-diseases
#11
REVIEW
Massimo Leggio, Augusto Fusco, Giorgio Limongelli, Luca Sgorbini
Pulmonary hypertension is a potentially life-threatening condition. Given its evolving definition, the incidence and prevalence of the disease is difficult to define, but registries suggest an increased global awareness. The management of patients with pulmonary arterial hypertension is highly specialised and requires multi-disciplinary input from a range of healthcare professionals, including cardiologists, respiratory physicians, rheumatologists, rehabilitation physicians and cardio-pulmonary physiotherapists...
September 11, 2017: European Journal of Internal Medicine
https://www.readbyqxmd.com/read/28911814/the-effect-of-patient-gender-on-outcomes-after-reverse-total-shoulder-arthroplasty
#12
Stephanie E Wong, Austin A Pitcher, David Y Ding, Nicola Cashman, Alan L Zhang, C Benjamin Ma, Brian T Feeley
BACKGROUND: Gender differences may exist for patients undergoing shoulder arthroplasty. Limited data suggest that women may have worse preoperative disability and outcomes. Our objective was to determine whether gender influences preoperative disability and patient-reported outcomes after reverse total shoulder arthroplasty. METHODS: Data were prospectively collected for patients who underwent reverse total shoulder arthroplasty for rotator cuff arthropathy or osteoarthritis with a rotator cuff tear at a single institution between 2009 and 2015...
September 11, 2017: Journal of Shoulder and Elbow Surgery
https://www.readbyqxmd.com/read/28911244/exploring-strategies-used-to-deliver-physical-activity-experiences-to-veterans-with-a-physical-disability
#13
Celina H Shirazipour, Alice B Aiken, Amy E Latimer-Cheung
PURPOSE: Physical activity is an important method of rehabilitation used to promote positive physical and psychosocial outcomes among military personnel, including Veterans, with a physical disability. However, minimal research has explored physical activity program implementation strategies, particularly how these strategies may foster positive rehabilitation outcomes, and quality participation experiences among Veterans post-injury. The purpose of the current study is to document strategies used to deliver physical activity programs to Veterans with a physical disability...
September 15, 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/28911242/european-validation-of-the-comprehensive-international-classification-of-functioning-disability-and-health-core-set-for-osteoarthritis-from-the-perspective-of-patients-with-osteoarthritis-of-the-knee-or-hip
#14
Martin Weigl, Heike Wild
PURPOSE: To validate the International Classification of Functioning, Disability and Health Comprehensive Core Set for Osteoarthritis from the patient perspective in Europe. MATERIALS AND METHODS: This multicenter cross-sectional study involved 375 patients with knee or hip osteoarthritis. Trained health professionals completed the Comprehensive Core Set, and patients completed the Short-Form 36 questionnaire. Content validity was evaluated by calculating prevalences of impairments in body function and structures, limitations in activities and participation and environmental factors, which were either barriers or facilitators...
September 15, 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/28910753/fall-prevalence-time-trend-and-its-related-risk-factors-among-elderly-people-in-china
#15
Hong Wu, Peng Ouyang
OBJECTIVES: To study the fall prevalence, time trends and related risk factors among elderly people in the Chinese mainland from 2011 to 2013. METHODS: Our data were from China Health and Retirement Longitudinal Study in 2011 and 2013. The population sample included people aged 60 years and over. Whether the person had experienced fall accident in the last two years was used to measure fall incidence. The time trend and age groups were investigated through the chi-square test...
September 1, 2017: Archives of Gerontology and Geriatrics
https://www.readbyqxmd.com/read/28910267/surveillance-for-certain-health-behaviors-and-conditions-among-states-and-selected-local-areas-behavioral-risk-factor-surveillance-system-united-states-2013-and-2014
#16
Sonya Gamble, Tebitha Mawokomatanda, Fang Xu, Pranesh P Chowdhury, Carol Pierannunzi, David Flegel, William Garvin, Machell Town
PROBLEM: Chronic diseases and conditions (e.g., heart diseases, stroke, arthritis, and diabetes) are the leading causes of morbidity and mortality in the United States. These conditions are costly to the U.S. economy, yet they are often preventable or controllable. Behavioral risk factors (e.g., excessive alcohol consumption, tobacco use, poor diet, frequent mental distress, and insufficient sleep) are linked to the leading causes of morbidity and mortality. Adopting positive health behaviors (e...
September 15, 2017: MMWR. Surveillance Summaries: Morbidity and Mortality Weekly Report. Surveillance Summaries
https://www.readbyqxmd.com/read/28910162/patient-engagement-is-related-to-impairment-reduction-during-digital-game-based-therapy-in-stroke
#17
David Putrino, Helma Zanders, Taya Hamilton, Avrielle Rykman, Peter Lee, Dylan J Edwards
OBJECTIVE: Upper limb impairment in the chronic phase of stroke recovery is persistent, disabling, and difficult to treat. The objectives of this study were to determine whether therapeutic enjoyment is related to clinical improvement after upper limb rehabilitation and to assess the feasibility of a therapy gaming system. MATERIALS AND METHODS: Ten chronic stroke survivors with persistent upper limb impairment were enrolled in the study. Upper limb impairment was evaluated by using the Fugl-Meyer Assessment of Upper Extremity Function (FMA-UE)...
September 14, 2017: Games for Health
https://www.readbyqxmd.com/read/28905670/a-model-to-facilitate-implementation-of-the-international-classification-of-functioning-disability-and-health-into-prosthetics-and-orthotics
#18
Gustav Jarl, Nerrolyn Ramstrand
BACKGROUND: The International Classification of Functioning, Disability and Health is a classification of human functioning and disability and is based on a biopsychosocial model of health. As such, International Classification of Functioning, Disability and Health seems suitable as a basis for constructing models defining the clinical P&O process. The aim was to use International Classification of Functioning, Disability and Health to facilitate development of such a model. Proposed model: A model, the Prosthetic and Orthotic Process (POP) model, is proposed...
September 1, 2017: Prosthetics and Orthotics International
https://www.readbyqxmd.com/read/28905445/the-meaning-of-play-for-children-and-young-people-with-physical-disabilities-a-systematic-thematic-synthesis
#19
REVIEW
N Graham, C Nye, A Mandy, C Clarke, C Morriss-Roberts
BACKGROUND: Children and young people with physical disabilities are often reported to play less than their typically developing peers. Few studies explore the meaning of play from the child's perspective; this study carried out a thematic synthesis of the findings of qualitative studies about the meaning of play following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. METHODS: A search of CINAHL, AHMED, PsycINFO, MEDLINE, EMBASE, and ERIC was undertaken between September 2015 and March 2016...
September 14, 2017: Child: Care, Health and Development
https://www.readbyqxmd.com/read/28904811/which-symptoms-contribute-the-most-to-patients-perception-of-health-in-multiple-sclerosis
#20
Rivka Green, Gary Cutter, Michael Friendly, Ilya Kister
BACKGROUND: Multiple sclerosis is a polysymptomatic disease. Little is known about relative contributions of the different multiple sclerosis symptoms to self-perception of health. OBJECTIVES: To investigate the relationship between symptom severity in 11 domains affected by multiple sclerosis and self-rated health. METHODS: Multiple sclerosis patients in two multiple sclerosis centers assessed self-rated health with a validated instrument and symptom burden with symptoMScreen, a validated battery of Likert scales for 11 domains commonly affected by multiple sclerosis...
July 2017: Multiple Sclerosis Journal—Experimental, Translational and Clinical
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