Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027121 (myositis)
 4,538 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Immunohistochemical method detecting dystrophin in muscle biopsies was introduced and applied in 121 cases with a large scale of neuromuscular diseases. A monoclonal antibody NCL-DYS 2 (Novocastra) was used for the detection of C-terminal domain of dystrophin. Normal, i.e. sarcolemmal, localization of dystrophin was found in controls, in inactivity atrophy, neurogenic lesions and congenital myopathies. A similar situation except regenerating fibres was found in myositis and progressive muscular dystrophies different from Duchenne (DMD) and Becker (BMD) types, DMD cases showed a complete or nearly complete loss of sarcolemmal reaction product, whereas a partial loss of dystrophin in membrane was found in BMD cases as well as in transmitter females. Fibres splitting during neurogenic and myogenic lesions had dystrophin in newly produced sarcolemmal parts. Sarcolemmal immunoreactivity starting as early as in the 10th-12th week of gestation was found in human fetuses.
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PMID:[Monoclonal antibodies to dystrophin in biopsy diagnosis of Duchenne and Becker progressive muscular dystrophies]. 802 Jan 13

The intermediate filament nestin is transiently expressed in developing skeletal muscle. In the present investigation, we analyzed by immunohistochemistry the presence of nestin, as well as vimentin and desmin, in skeletal muscle affected by two diseases characterized by various degrees of necrosis and muscle regeneration: Duchenne/Becker muscular dystrophy and myositis. Nestin-positive areas were found in all analyzed muscle biopsies of both diseases. The same areas were, in most cases, also positive for vimentin and stained more intensely for desmin than surrounding myofibers. Only nestin was found specifically in myopathic muscle fibers; vimentin was in addition present in muscle fibroblasts and desmin in all myofibers. The areas staining positive for nestin were typically basophilic, small-diameter myofibers, often with centrally located nuclei. With the interesting exception of a 73-year-old healthy control with abundant ring fibers, nestin was not detected in the muscle of healthy controls. The intracellular distribution of nestin in the myopathic muscle fibers, as well as in the ring fibers, was confined to the vicinity of Z-bands. The presence of nestin protein in myopathic regenerating areas and in ring fibers correlated more closely to the presence of desmin than to vimentin immunoreactivity. Our results suggest that nestin is specifically expressed in newly formed muscle fibers also during regeneration, and that nestin may serve as a useful marker of regenerating muscle fibers in pathological conditions.
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PMID:Myofibers from Duchenne/Becker muscular dystrophy and myositis express the intermediate filament nestin. 802 16

Tenascin-C (TN-C) is an extracellular matrix protein expressed during development in several tissues, but restricted to only a few areas in normal adult tissues. By immunizing mice with human fetal myoblasts we generated a monoclonal antibody to TN-C and mapped the epitope to the aminoterminal end containing EGF-like repeats. Using this antibody we detected by immunohistochemistry TN-C in the epimysium and perimysium of human fetal muscles, as well as in nonfibrillar deposits in myoblast cultures. In situ hybridization did not reveal any signal within human fetal muscle groups, suggesting that non-muscle cells synthesize the majority of the tenascin that localizes in and around human fetal muscle. Immunohistochemical analysis of muscle biopsies from Duchenne/Becker muscular dystrophy and myositis patients revealed that TN-C is expressed in skeletal muscle. Although the patterns of TN-C immunoreactivity were quite different in the two disease entities, the endomysial TN-C reactivity in both DMD/BMD and in myositis invariably correlated with the presence of macrophages.
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PMID:Tenascin-C expression correlates with macrophage invasion in Duchenne muscular dystrophy and in myositis. 913 39

In the present study the release of proteins degrading extracellular matrix compounds to circulation was measured after damaging exercise in humans. Muscle damage was induced by downhill running; furthermore, the exercise was performed at both cold temperature (5 degrees C) and room temperature (22 degrees C) to study also the possible effect of environmental temperature on serum concentrations of matrix metalloproteinases MMP-2 and MMP-9, tissue inhibitors of metalloproteinases TIMP-1 and TIMP-2, and MMP-2/TIMP-2 complex, and muscle damage monitored by serum creatine kinase measurements. Results were compared with those obtained from patients having rhabdomyolysis, myositis and Becker muscular dystrophy. The present study demonstrates an acute increase in serum concentrations of MMP-9, TIMP-1, and MMP-2/TIMP-2 complex, but no changes in serum MMP-2 concentrations in response to eccentric exercise. Serum creatine kinase activity data suggest greater muscle damage after downhill running in a cold environment than at room temperature. The present observations about at most slight changes in serum MMP and TIMP concentrations and lack of their correlation to increased serum creatine kinase after exercise indicate that serum measurements of MMPs and TIMPs do not sensitively respond to exercise induced skeletal muscle damage and extracellular matrix regeneration. On the other hand, severe skeletal muscle damage, such as rhabdomyolysis, myositis and Becker muscular dystrophy, seemed to have an effect on serum MMP and TIMP concentrations.
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PMID:Serum concentrations of collagen degrading enzymes and their inhibitors after downhill running. 1116 29

We report a 55-year-old man with a chief complaint of wasting and weakness of the left quadriceps muscle. At age 54, he noticed difficulty in running and weakness in the left thigh, which gradually progressed. On the first admission to our hospital, based on the nerve conduction studies (NCS), the muscle biopsy findings showing neurologenic changes, and no abnormality of spinal MRI, we diagnosed as unilateral quadriceps amyotrophy, which resulted from an atypical form of spinal progressive muscular atrophy. One year later, he showed the bilateral hand weakness, conduction blocks on the right median and ulnar nerves by NCS, and the presence of serum anti-GM 1 antibody. From these findings, Lewis-Sumner syndrome was diagnosed. The therapy of high-dose intravenous immunoglobulin moderately improved his symptoms. The clinical symptoms of quadriceps amyotrophy is produced by various disorders including spinal progressive muscular atrophy, spinal extradural arachnoid cyst, rimmed vacuole myopathy, Becker dystrophy, limb-girdle dystrophy, and focal myositis. However, there have been no reports of a case of Lewis-Sumner syndrome. It is important to consider Lewis-Sumner syndrome in the differential diagnosis of quadriceps amyotrophy.
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PMID:[Lewis-Sumner syndrome presenting unilateral quadriceps amyotrophy as an initial symptom]. 1133 95

The patient reported here presented with first symptoms at the age of 10 showing an abnormal gait, calf hypertrophy and winged scapulae. She was diagnosed with eosinophilic myositis after muscle biopsy. A second muscle biopsy at the age of 20 and subsequent genetic testing, however, revealed the underlying condition of a primary gamma-sarcoglycanopathy, or LGMD2C. To our knowledge, this is the first LGMD2C patient reported who initially presented with eosinophilic myositis. Eosinophilia has been reported previously in patients with Calpainopathy and Becker Muscular Dystrophy and might be an early, but transient feature of a wider range of muscular dystrophies.
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PMID:Eosinophilic myositis as presenting symptom in gamma-sarcoglycanopathy. 1916 90