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  • 1
    Electronic Resource
    Electronic Resource
    Microvascular endothelial abnormality in skeletal muscle from a patient with gastric cancer without dermatomyositis (2000)
    Springer
    Acta neuropathologica 100 (2000), S. 718-722 
    Details
    ISSN: 1432-0533
    Keywords: Key words Thrombomodulin ; Paraneoplastic phenomenon ; Endothelial cell ; Myalgia ; Thrombophlebitis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We found a microvascular endothelial abnormality in a biopsy specimen from the gastrocnemius muscle of a patient with gastric cancer, who had severe myalgia and angialgia in the calf region with the symptoms of thrombophlebitis. There were no definite findings of inflammatory myopathy in histochemical and immunohistochemical studies. Electron microscopic examination revealed the accumulation of abnormal mitochondria in the subsarcolemmal area, and a fair number of degenerating capillaries. Immunohistochemical analysis of procoagulant or anticoagulant factors revealed marked reduction of thrombomodulin (TM) expression on small vessels and capillaries. Although a reduction of TM on small vessels has been observed around perifascicular atrophic fibers in patients with dermatomyositis, histochemical findings of the present patient showed no perifascicular atrophy or severely degenerating fibers. These pathological findings in the patient may be related to a malignant neoplasm and may be one of the causes of disseminated intravascular coagulation (DIC), which is the main complication of malignant neoplasms. Further studies are necessary to determine whether the reduction of TM on the small vessels and capillaries in skeletal muscle is a predictor of some severe condition such as DIC or a rare pathological finding in some special condition such as scirrhous carcinoma with thrombophlebitis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004010000243
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  • 2
    Electronic Resource
    Electronic Resource
    Accumulation of mitochondrial ATP synthase subunit c in muscle in a patient with neuronal ceroid lipofuscinosis (late infantile form) (1997)
    Springer
    Acta neuropathologica 93 (1997), S. 628-632 
    Details
    ISSN: 1432-0533
    Keywords: Key words Neuronal ceroid lipofuscinosis ; Sural ; nerve ; Mitochondrial ATP synthase subunit c ; Muscle ; Curvilinear profile
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report a case of late infantile neuronal ceroid lipofuscinosis (NCL). Abnormal granules were found in the skeletal muscle fibers, Schwann cells, perineurial cells, endothelial cells, fibroblasts, and perivascular smooth muscle cells in the sural nerve. Electron microscopy revealed that these granules showed fingerprint profiles, curvilinear profiles or membrane-bound membranous structures. Acid phosphatase reaction was increased in these cells. Immunohistochemical studies for mitochondrial ATP synthase subunit c showed a strong reaction in these cells, suggesting abnormal accumulation of subunit c. Immunohistochemistry for subunit c in muscle may be useful in the diagnosis of late infantile NCL.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004010050661
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Multiple episodes of thrombosis in a patient with Becker muscular dystrophy with marked expression of utrophin on the muscle cell membrane (1999)
    Springer
    Acta neuropathologica 98 (1999), S. 313-316 
    Details
    ISSN: 1432-0533
    Keywords: Key words Utrophin ; Becker muscular dystrophy ; Thrombosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We previously reported a patient with Becker muscular dystrophy (BMD) who exhibited a benign clinical phenotype and marked expression of utrophin on the muscle cell membrane. The patient developed multiple episodes of thrombosis (middle cerebral and femoral arteries) in the course of the disease. We re-examined the biopsy muscle specimen from the patient immunohistochemically as to the expression of procoagulant or anticoagulant factors. We found a lower expression of thrombomodulin on the muscle cell membrane in the BMD patient compared with other BMD or Duchenne muscular dystrophy (DMD) patients. Although utrophin up-regulation in muscle is thought to prevent the muscle wasting in dystrophin-deficient DMD or BMD, the data obtained in the present study indicate that up-regulated utrophin may have an unexpected influence on the function of the vascular or coagulation system.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004010051086
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    Paper (German National Licenses)
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  • 4
    Electronic Resource
    Electronic Resource
    Adult onset limb-girdle type mitochondrial myopathy with a mitochondrial DNA np8291 A-to-G substitution (1999)
    Springer
    Journal of human genetics 44 (1999), S. 210-214 
    Details
    ISSN: 1435-232X
    Keywords: Key words Adult onset ; Limb-girdle type ; Mitochondrial myopathy ; Familial ; Mitochondrial DNA ; np8291 A-to-G substitution
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We analyzed mitochondrial DNA (mtDNA) from 7 patients in four families with adult onset limb-girdle type mitochondrial myopathy to clarify their genetic background. The patients, 2 men and 5 women, showed common clinical features, characterized by isolated skeletal myopathy, high serum creatine kinase level, ragged-red fibers and cytochrome c oxidase-defective fibers. Analysis of muscle biopsy specimens indicated that cytochrome c oxidase activity was decreased relative to that of citrate synthase in 5 of the 7 patients. Southern blotting and direct sequence analyses showed an A-to-G homoplasmic transition at np8291 and intergenic COII/tRNA(Lys) 9bp deletion in all patients. This substitution was detected in only 2 of 600 control individuals including healthy subjects and patients with other neuromuscular disorders; these 2 individuals had diabetes mellitus and myotonic dystrophy, respectively. Consequently, the mtDNA transition at np8291 was a rare polymorphism. However, the 7 patients we studied had identical clinical, pathological, biochemical, and genetic features. Therefore, limb-girdle type mitochondrial myopathy with this rare polymorphism may form a subgroup of adult onset mitochondrial myopathy.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s100380050145
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    Paper (German National Licenses)
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