Search results for "Muscular Disease"
showing 10 items of 220 documents
Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies).
2000
Made available in DSpace on 2016-10-10T03:52:18Z (GMT). No. of bitstreams: 5 Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy.pdf: 167085 bytes, checksum: b445ec059ea2d0f06bd4fa913354872a (MD5) license_url: 52 bytes, checksum: 2f32edb9c19a57e928372a33fd08dba5 (MD5) license_text: 24259 bytes, checksum: f1f24f769b03eb8f9cd3f53c1090841c (MD5) license_rdf: 24658 bytes, checksum: 9d3847733d3c0b59c7c89a1d40d3d240 (MD5) license.txt: 1887 bytes, checksum: 445d1980f282ec865917de35a4c622f6 (MD5) Previous issue date: 2000 Dysferlin is the protein product of the gene (DYSF) that is defective in patients with limb girdle muscular dy…
Acute heavy-resistance exercise–induced pain and neuromuscular fatigue in elderly women with fibromyalgia and in healthy controls: Effects of strengt…
2006
Objective To examine heavy-resistance exercise–induced acute neuromuscular fatigue, blood lactate concentration, and muscle pain in elderly women with fibromyalgia (FM) and in healthy controls before and after a period of strength training. Methods Thirteen elderly women with FM (mean ± SD age 60 ± 2 years) and 10 healthy women (mean ± SD age 64 ± 3 years) performed a heavy-resistance fatiguing protocol (5 sets of leg presses with 10 repetitions maximum) before and after a 21-week strength training period. Maximal isometric force and electromyography (EMG) activity of leg extensors and blood lactate concentration were measured during the loading. Pain was assessed by visual analog scale. Re…
Selenoprotein synthesis and side-effects of statins.
2004
Statins are possibly the most effective drugs for the prevention and treatment of hypercholesterolaemia and coronary heart disease. They are generally well tolerated, however, they do cause some unusual side-effects with potentially severe consequences, most prominently myopathy or rhabdomyolysis and polyneuropathy. We noted that the pattern of side-effects associated with statins resembles the pathology of selenium deficiency, and postulated that the mechanism lay in a well established, but often overlooked, biochemical pathway--the isopentenylation of selenocysteine-tRNA([Ser]Sec). A negative effect of statins on selenoprotein synthesis does seem to explain many of the enigmatic effects a…
Load progression criteria in exercise programmes in lower limb tendinopathy: a systematic review
2020
ObjectiveThe objective of this study is to summarise and analyse the current literature about what progression criteria are applied in loading exercise programmes in lower limb tendinopathies and their evidence and effectiveness.DesignSystematic review.MethodsPubMed, Embase, Scopus and PEDrowere searched from inception to 24 September 2020. The inclusion criteria were randomised controlled trials that included patients with midportion Achilles, patellar or gluteal tendinopathy; assessed function, pain or performance; included at least one group where progressive physical exercise was administered as monotherapy; included at least a control group. We excluded studies that included subjects w…
The acute myotoxic effects of bupivacaine and ropivacaine after continuous peripheral nerve blockades.
2003
Bupivacaine causes muscle damage. However, the myotoxic potency of ropivacaine is still unexplored. Therefore, we performed this study to compare the effects of bupivacaine and ropivacaine on skeletal muscle tissue in equipotent concentrations. Femoral nerve catheters were inserted into anesthetized minipigs, and 20 mL of either bupivacaine (5 mg/mL) or ropivacaine (7.5 mg/mL) was injected. Subsequently, bupivacaine (2.5 mg/mL) and ropivacaine (3.75 mg/mL) were continuously infused over 6 h. Control animals were treated with corresponding volumes of normal saline. Finally, muscle samples were dissected at injection sites. After processing and staining, histological patterns of muscle damage…
Role of muscle-targeted nutritional therapy: new data.
2022
Purpose of review To provide an updated overview of recent efficacy data on the use of muscle-targeted nutritional therapy, which should consider the optimization of protein and essential amino acids intakes, possibly in combination with supplementation with vitamin D (correction of deficiency/insufficiency status) and v-3 fatty acids. Recent findings Intervention studies conducted in the last years in different healthcare settings and heterogeneous patient populations support the use of muscle-targeted oral nutritional supplementation to improve muscle mass, function and physical performance in patients with sarcopenia. Higher efficacy is likely to be achieved in combination with individua…
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenital
2022
BackgroundArthrogryposis multiplex congenita (AMC) is characterised by congenital joint contractures in two or more body areas. AMC exhibits wide phenotypic and genetic heterogeneity. Our goals were to improve the genetic diagnosis rates of AMC, to evaluate the added value of whole exome sequencing (WES) compared with targeted exome sequencing (TES) and to identify new genes in 315 unrelated undiagnosed AMC families.MethodsSeveral genomic approaches were used including genetic mapping of disease loci in multiplex or consanguineous families, TES then WES. Sanger sequencing was performed to identify or validate variants.ResultsWe achieved disease gene identification in 52.7% of AMC index pati…
Immune-mediated rippling muscle disease with myasthenia gravis: a report of seven patients with long-term follow-up in two.
2009
We report seven patients with immune-mediated rippling muscle disease (iRMD) and AChR-antibody positive myasthenia gravis (MG) without germline caveolin-3 gene mutations. We describe the follow-up of two patients and the clinical features of five new patients (1 female, 4 male, aged 32 to 69 years). These presented with significant generalized, exercise-induced and electrically-silent muscle rippling with myalgia, combined with generalized MG. In two of the seven patients, MG appeared before iRMD. Mediastinal imaging excluded thymic alterations in all, although two had other coincident tumours. Myalgia and rippling were aggravated by acetylcholinesterase-inhibitor treatment. Generalized MG …
Myopathy with hexagonally cross-linked crystalloid inclusions: delineation of a clinico-pathological entity.
2010
A novel myopathy characterized by hexagonally cross-linked tubular arrays has been reported in five patients. We studied the clinical and histopathological features of five additional unrelated patients with this myopathy. Patients experienced exercise intolerance with exercise-induced myalgia and weakness, without rhabdomyolysis. One patient additionally presented mild permanent pelvic girdle muscle weakness. Age at onset varied between 13 and 56 years. The inclusions were eosinophilic on H and E, bright red with modified Gomori’s trichrome stains, present in type 2 fibers, and revealed immunoreactivity selectively for a caveolin-3-antibody. Ultrastructurally, the inclusions showed a highl…
Myoadenylate deaminase deficiency
1987
Myoadenylate deaminase (MAD) is the rate-limiting enzyme in the purine nucleotide cycle which is biochemically linked to glycolysis and the citric cycle and thereby providing energy during intense muscular activity. In muscle fibers, myoadenylate deaminase operates at considerably higher activity levels than in other organs. First detected using enzyme-histochemical methods, it now appears that deficiency of myoadenylate deaminase is one of the most frequent enzyme defects in muscle. The primary defect may occur as an isolated nosological entity or not infrequently it is also associated with a large spectrum of different neuromuscular conditions. It seems to be the primary unassociated MAD …