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muscular transitional care

Anna Carin Aho, Sally Hultsjö, Katarina Hjelm
PURPOSE: To describe perceptions of the transition from receiving the diagnosis recessive limb-girdle muscular dystrophy to becoming in need of human support to manage daily life and using a wheelchair for ambulation, from the affected young adults' and their parents' perspectives. METHOD: A qualitative and descriptive study design was used. Semi-structured interviews were held with 14 young adults diagnosed with recessive limb-girdle muscular dystrophy and 19 parents...
April 24, 2018: Disability and Rehabilitation
Jennifer G Andrews, Richard A Wahl
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are life-limiting and progressive neuromuscular conditions with significant comorbidities, many of which manifest during adolescence. BMD is a milder presentation of the condition and much less prevalent than DMD, making it less represented in the literature, or more severely affected individuals with BMD may be subsumed into the DMD population using clinical cutoffs. Numerous consensus documents have been published on the clinical management of DMD, the most recent of which was released in 2010...
2018: Adolescent Health, Medicine and Therapeutics
David J Birnkrant, Katharine Bushby, Carla M Bann, Susan D Apkon, Angela Blackwell, Mary K Colvin, Linda Cripe, Adrienne R Herron, Annie Kennedy, Kathi Kinnett, James Naprawa, Garey Noritz, James Poysky, Natalie Street, Christina J Trout, David R Weber, Leanne M Ward
Improvements in the function, quality of life, and longevity of patients with Duchenne muscular dystrophy (DMD) have been achieved through a multidisciplinary approach to management across a range of health-care specialties. In part 3 of this update of the DMD care considerations, we focus on primary care, emergency management, psychosocial care, and transitions of care across the lifespan. Many primary care and emergency medicine clinicians are inexperienced at managing the complications of DMD. We provide a guide to the acute and chronic medical conditions that these first-line providers are likely to encounter...
May 2018: Lancet Neurology
David J Birnkrant, Katharine Bushby, Carla M Bann, Susan D Apkon, Angela Blackwell, David Brumbaugh, Laura E Case, Paula R Clemens, Stasia Hadjiyannakis, Shree Pandya, Natalie Street, Jean Tomezsko, Kathryn R Wagner, Leanne M Ward, David R Weber
Since the publication of the Duchenne muscular dystrophy (DMD) care considerations in 2010, multidisciplinary care of this severe, progressive neuromuscular disease has evolved. In conjunction with improved patient survival, a shift to more anticipatory diagnostic and therapeutic strategies has occurred, with a renewed focus on patient quality of life. In 2014, a steering committee of experts from a wide range of disciplines was established to update the 2010 DMD care considerations, with the goal of improving patient care...
March 2018: Lancet Neurology
Miku Yamaguchi, Etsuyo Sonoda, Machiko Suzuki
PURPOSE: Mechanical ventilation has allowed a greater number of patients with Duchenne muscular dystrophy (DMD) to transition into adulthood. However, the role of a child's parent as a caregiver lasts throughout the child's lifetime. We explored parents' experiences of prolonged caregiving using serial interviews, analyzed using constructivist grounded theory. MATERIALS AND METHODS: Fourteen parents (average age 53.9 years) with sons with DMD (average age 23.2 years) were interviewed two to four times, over a 3-year period...
November 26, 2017: Disability and Rehabilitation
Claudia A Chiriboga
Spinal muscular atrophy (SMA) is an autosomal recessive degenerative neuromuscular disorder characterized by loss of spinal motor neurons leading to muscle weakness. This review article focuses on a novel antisense oligonucleotide treatment, first ever approved for SMA (nusinersen, SpinrazaTM ) and describes the exciting journey from early ASO clinical trials to regulatory approval of the first ever known effective treatment for SMA. Areas covered: This article reviews the results of the published open label nusinersen studies in infants and children, and briefly covers the preliminary findings of the recently completed but as yet unpublished nusinersen-sham controlled trials, as well as the presymptomatic nusinersen trial known as Nurture...
October 2017: Expert Review of Neurotherapeutics
Vikas Maharshi, Shazia Hasan
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterized by degeneration of spinal motor neurons and poses significant adverse outcome in affected population. Survival motor neuron 1 (SMN1) protein encoded by SMN1 gene located on 5q13 is critical for survival and functioning of motor neurons. Almost identical gene SMN2, present on the same chromosome, produces a small truncated protein (SMN2) because of skipping of exon 7 from translation due to translation silent C6U substitution in exon 7 of SMN2 pre-mRNA transcript...
September 2017: Clinical Drug Investigation
Simona Salera, Francesca Menni, Maurizio Moggio, Sophie Guez, Monica Sciacco, Susanna Esposito
Neuromuscular diseases (NMDs) represent a heterogeneous group of acquired or inherited conditions. Nutritional complications are frequent in NMDs, but they are sometimes underestimated. With the prolongation of survival in patients with NMDs, there are several nutritional aspects that are important to consider, including the deleterious effects of overnutrition on glucose metabolism, mobility, and respiratory and cardiologic functions; the impact of hyponutrition on muscle and ventilatory function; constipation and other gastrointestinal complications; chewing/swallowing difficulties with an increased risk of aspiration that predisposes to infectious diseases and respiratory complications; as well as osteoporosis with an associated increased risk of fractures...
June 10, 2017: Nutrients
Brenda M Davy, Richard A Winett, Jyoti Savla, Elaina L Marinik, Mary Elizabeth Baugh, Kyle D Flack, Tanya M Halliday, Sarah A Kelleher, Sheila G Winett, David M Williams, Soheir Boshra
OBJECTIVE: To determine whether a social cognitive theory (SCT)-based intervention improves resistance training (RT) maintenance and strength, and reduces prediabetes prevalence. RESEARCH DESIGN AND METHODS: Sedentary, overweight/obese (BMI: 25-39.9 kg/m2) adults aged 50-69 (N = 170) with prediabetes participated in the 15-month trial. Participants completed a supervised 3-month RT (2×/wk) phase and were randomly assigned (N = 159) to one of two 6-month maintenance conditions: SCT or standard care...
2017: PloS One
Erik Landfeldt, Lars Alfredsson, Volker Straub, Hanns Lochmüller, Katharine Bushby, Peter Lindgren
BACKGROUND: Several treatments are on the horizon for Duchenne muscular dystrophy (DMD), a terminal orphan disease. In many jurisdictions, decisions regarding pricing and reimbursement of these health technologies comprise evidence of value for money. OBJECTIVE: The objective of this study was to develop a cost-effectiveness model based on the Duchenne muscular dystrophy Functional Ability Self-Assessment Tool (DMDSAT), a new rating scale created specifically to measure disease progression in clinical practice and trials and model DMD in economic evaluations, and compare it with two alternative model structures...
February 2017: PharmacoEconomics
Sally Lindsay, Laura McAdam, Tania Mahendiran
BACKGROUND: Young men with Duchenne muscular dystrophy (DMD) live into adulthood and need specialized care. However, services for adults are fragmented. We know little about young men's experiences, their parents, and clinicians who support them as they transition to adult care. OBJECTIVE: To explore the enablers and barriers of clinicians, young men, and parents as they transition from an adult DMD clinic within a pediatric hospital to an adult health facility...
January 2017: Disability and Health Journal
Charles P Gabel, Natalie Rando, Markus Melloh
To ascertain the effectiveness of slacklining as a supplementary therapy for elderly stroke patients who are functionally non-progressing. This case study involved an 18-mo prospective observation of the management of an 87-year-old female stroke-patient of the left hemisphere with reduced balance, reduced lower limb muscular activation, hypertonia, and concurrent postural deficits. This entailed the initial acute care phase through to discharge to home and 18-mo final status in her original independent living setting...
August 18, 2016: World Journal of Orthopedics
Veronika Waldboth, Christine Patch, Romy Mahrer-Imhof, Alison Metcalfe
INTRODUCTION: The transition into adulthood is a developmental stage within the life cycle. A chronic childhood condition can disrupt this transition and create major challenges for both the young person and his or her family. Little is known about families' experiences when living with a rare genetic disease. Therefore, the purpose of this literature review was to understand experiences of families living with a chronic childhood disease during transition into adulthood by integrating evidence...
October 2016: International Journal of Nursing Studies
Yi-Jing Lue, Shun-Sheng Chen, Yen-Mou Lu
PURPOSE: This study investigated quality of life (QOL) in adolescent and young men with Duchenne muscular dystrophy (DMD). METHODS: Health-related QOL and global QOL were assessed with the Short Form 36 (SF-36) and World Health Organization Quality of Life-BREF (WHOQOL-BREF). Associations between functional status and QOL were assessed. RESULTS: All domains of the SF-36 were below Taiwan norms (effect size: -14.2 to -0.5), especially Physical Function, Role Physical, and Social Function...
July 2017: Disability and Rehabilitation
N Ghimire, P Dhakal, D Norrish, G Dangal, D Sharma, M Dhimal, K K Aryal, B K Jha, K B Karki
BACKGROUND: Women face numerous health problems in their post-reproductive and menopausal years, including issues such as pelvic pain, incontinence and obstetric fistula. In Nepal, the importance of these health issues is increasing with the aging of the population, yet women are often unable to access adequate health care due to entrenched gender structures and misconceptions regarding menopause. This study aimed to describe the prevalence of menopause, the associated health problems and their severity amongst women aged 40-60 years in Kapilvastu...
September 2015: Journal of Nepal Health Research Council
Katy L de Valle, Zoe E Davidson, Rachel A Kennedy, Monique M Ryan, Kate M Carroll
PURPOSE: To record the use and perceived benefits of mainstream allied health services, complementary therapies, nutritional supplements and structured physical activity in a paediatric population of males with Duchenne or Becker muscular dystrophy. METHOD: A questionnaire was distributed to 125 parents of males with a dystrophinopathy within a tertiary neuromuscular clinic population in Melbourne, Australia. RESULTS: Response rate to the survey was 41%...
2016: Journal of Pediatric Rehabilitation Medicine
B Chabrol, M Mayer
Given the gradual progression observed in Duchenne muscular dystrophy, organization of care in multidisciplinary consultations is essential for optimal management of the different aspects of the disease. Drawing up a care plan is always preceded by a specific consultation for the announcement of the diagnosis with both the parents and the child. Explaining to the child the origin of his problems with simple words, telling him that why he experienced a particular symptom has been understood, is a fundamental step...
December 2015: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
David R Yáñez-Ruiz, Leticia Abecia, Charles J Newbold
The nutritional manipulations of the rumen microbiome to enhance productivity and health are rather limited by the resilience of the ecosystem once established in the mature rumen. Based on recent studies, it has been suggested that the microbial colonization that occurs soon after birth opens a possibility of manipulation with potential to produce lasting effects into adult life. This paper presents the state-of-the-art in relation to early life nutritional interventions by addressing three areas: the development of the rumen as an organ in regards to the nutrition of the new-born, the main factors that determine the microbial population that first colonizes and establishes in the rumen, and the key immunity players that contribute to shaping the commensal microbiota in the early stage of life to understand host-microbiome specificity...
2015: Frontiers in Microbiology
Bright I Nwaru, Aziz Sheikh
PURPOSE OF REVIEW: The incidence of anaphylaxis is increasing across all ages, but the risk of morbidity and fatality is disproportionately high in adolescents. This may, at least in part, be a consequence of a constellation of potentially modifiable psychosocial factors that tend to manifest during adolescence. This study highlights the shortcomings in and the barriers to effective management of anaphylaxis in adolescents, and proposes an integrated tripartite framework that may help promote successful management...
August 2015: Current Opinion in Allergy and Clinical Immunology
Sara E Gombash, Christopher J Cowley, Julie A Fitzgerald, Chitra C Iyer, David Fried, Vicki L McGovern, Kent C Williams, Arthur H M Burghes, Fedias L Christofi, Brian D Gulbransen, Kevin D Foust
The 2007 Consensus Statement for Standard of Care in Spinal Muscular Atrophy (SMA) notes that patients suffer from gastroesophageal reflux, constipation and delayed gastric emptying. We used two mouse models of SMA to determine whether functional GI complications are a direct consequence of or are secondary to survival motor neuron (Smn) deficiency. Our results show that despite normal activity levels and food and water intake, Smn deficiency caused constipation, delayed gastric emptying, slow intestinal transit and reduced colonic motility without gross anatomical or histopathological abnormalities...
July 1, 2015: Human Molecular Genetics
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