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Spinal muscular atrophy is a genetic neuromuscular disease characterised by muscle atrophy, hypotonia, weakness, and progressive paralysis. Usually, these patients display increased fat mass deposition and reductions in fat-free mass and resting energy expenditure-an unfavourable condition that
Body composition is sparsely described in spinal muscular atrophy (SMA). Body (BMI, mass/height in m(2)), fat-free (FFMI, lean mass/height in m(2)) and fat (FMI, fat mass/height in m(2)) mass indexes were estimated in 25 children (aged 5-18) with SMA (2 type I, 13 type II, 10 type III) using
Menopausal women experience musculoskeletal changes such as muscle atrophy, muscle weakness and osteoporosis-symptoms associated with advancing age coupled with depletion of the female sex hormone, estrogen. Estrogen is important in the maintenance of the integrity of the This study aimed to evaluate various metabolic parameters in patients with spinal and bulbar muscular atrophy (SBMA), to investigate the association between those indices and disease severity, and to explore the underlying molecular pathogenesis. We compared the degree of obesity, metabolic
Accurate, noninvasive measures of body composition are needed for management of patients with spinal muscular atrophy. Fat mass index (fat mass/height(2) in kg/m(2)) was measured in 16 subjects with spinal muscular atrophy using 5 bioelectrical impedance analysis equations and compared with a
We studied the characteristics of bone mineral density (BMD) and soft tissue composition in obese Japanese women using dual-energy X-ray absorptiometry. Eighty-nine women, aged 45-85 years, were divided into three groups according to their body mass index (BMI): a thin group (n = 38: BMI < 21), a
Spinal surgery in patients with overweight and obesity is associated with an increased risk of perioperative complications. Minimally invasive (MIS-TLIF) and traditional (O-TLIF) techniques of rigid stabilization are extensively used, but the advantages and disadvantages of MIS-TLIF in patients with
There is no curative treatment for most neuromuscular disorders. Exercise, as a treatment for these diseases, has therefore received growing attention. When executed properly, exercise can maintain and improve health and reduce the risk of cardiovascular disease, obesity, and diabetes. In persons
BACKGROUND
Autosomal-recessive proximal spinal muscular atrophies (SMA) are disorders characterized by a ubiquitous deficiency of the survival of motor neuron protein that leads to a multisystemic disorder, which mostly affects alpha motor neurons. Disease progression is clinically associated with
OBJECTIVE
To examine the impact of fasting and glucose tolerance on selected metabolic variables in children with spinal muscular atrophy (SMA) type II in a well state, secondary to reports of glucose regulation abnormalities in SMA.
METHODS
In this prospective pilot study, 6 children aged 7-11
UNASSIGNED
The objective of this review is to identify effective enteral nutritional regimens targeting protein and calorie delivery for the critically ill obese patient on morbidity and mortality.More specifically, the review question is:In the critically ill obese patient, what is the optimal
The introduction of nusinersen, the first therapeutic modality for Spinal Muscular Atrophy (SMA) patients has raised hopes and led to construction of a multi-professional medical SMA service, including pediatric endocrinology. Our study aimed to provide a comprehensive description of the endocrine
Spinal muscular atrophy (SMA) is caused by deletions or mutations of Survival Motor Neuron 1 (SMN1) gene. The nearly identical SMN2 cannot compensate for SMN1 loss due to exon 7 skipping. The allele C (C +/+) mouse recapitulates a mild SMA-like phenotype and offers an ideal system to monitor the
The relationship between body composition and function in spinal muscular atrophy (SMA) is poorly understood. 53 subjects with SMA were stratified by type and Hammersmith functional motor scale, expanded score into three cohorts: low-functioning non-ambulatory (type 2 with Hammersmith score < 12,