Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In our previous research, we found that the level of the plasminogen activity in the plasma from Duchenne-type patients with progressive muscular dystrophy was higher than of the normal boys, though the level of the plasmin inhibitors was lower. Therefore, in the present study, we investigated the differences in the fractions of plasmin inhibitors. The subjects were nine patients (the average age being 17.1 years) who had been diagnosed, by clinical and biochemical tests, as having PMD; serving as controls were normal boys (the average age being 15 years), the patients' mothers, and the mothers of the normal boys. The plasmin inhibitors were separated from plasma using lysine-Sepharose columns according to the method of Urita et al. The determination was performed based on the method of Aoyagi et al. and an immunoreactive assay. The results were as follows: (1) No significant differences were seen between patients with PMD and control subjects with respect to either alpha 1-antichymotrypsin, antithrombin III, and alpha 1-antitrypsin or alpha 2-macroglobulin and inter-alpha-trypsin inhibitors. These results suggested that the low level of plasmin inhibitors in patients was due to the low activity of the C1 inactivator. (2) The patients with PMD showed lower values than the normal boys in the levels of C1 inactivator in plasma; similarly, the mothers of these patients showed lower values than the normal mothers.
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PMID:Plasma plasmin inhibitors in Duchenne-type progressive muscular dystrophy. 316 Mar 43

We previously found that the level of the immunoreactive activity of C1 inactivator in the plasma Duchenne-type patients with progressive muscular dystrophy was lower than that in normal boys. Therefore, we investigated the level of the C1 inactivator inhibiting activity against C1 esterase in the serum from PMD patients. The mean level of anti-esterase activity of C1 inactivator against C1 esterase in the serum from PMD was 50% lower than that of the control group (P less than 0.05).
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PMID:Serum activity of C1 inactivator in Duchenne-type progressive muscular dystrophy. 349 13

The presentation and features of Duchenne's progressive muscular dystrophy (Duchenne's PMD) are described and the increased risks associated with anaesthesia are considered. Hazards associated with induction of anaesthesia and immediate postoperative recovery have been stressed in recent case reports, and these are summarized. Features of a hyperpyrexia-like response including cardiac arrest, increased serum creatine phosphokinase concentration, myoglobinuria and metabolic acidosis following suxamethonium or halothane, or both, have been described in patients with Duchenne's PMD. Subsequent in vitro muscle tests have suggested that it is possible that a malignant hyperpyrexia response to general anaesthesia may occur. Six children known to have Duchenne's PMD who developed delayed respiratory insufficiency following anaesthesia and required controlled pulmonary ventilation are reported. In five of the children, cardiac arrest occurred despite apparently adequate respiratory support. Suxamethonium was common to the anaesthetic received by all six patients. In one of these patients subsequent anaesthetics, without suxamethonium, were uneventful and delayed muscle weakness did not occur.
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PMID:Anaesthesia and progressive muscular dystrophy. 405 3

Two spanish male brothers with weakness and muscular dystrophy and affection of the CNS are presented. Muscular disturbances were noticeable from birth and, although generalized, they affected more severely proximal muscles. Both children presented joint contractures from an early stage. None of the patients got to walk and to stand. Muscular serum enzymes were slightly elevated. EMG and muscular histology were compatible with conventional pathology of PMD. Other features of severe alteration of CNS were observed in both patients, being the most significant lack of sphincter control at 13 and 7 years old, mental retardation with an IQ about 70, generalized seizures at 10 years in the older boy and presence of brain alterations at computerized tomography (CT), consisting in low density on subcortical brain parenchima in both cerebral hemispheres and the cerebellum in the older brother and in both cerebral hemispheres in the younger. Clinical course is stationary in both brothers. It seems that in our patients there is an autosomal recessive heredity. All clinical, genetic, EMG, CT and histological features are compatible with congenital progressive muscular dystrophy of Fukuyama type.
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PMID:[Muscular dystrophy with central nervous system involvement. Apropos of 2 Spanish cases]. 666 Jun 39

Preimplantation genetic diagnosis was performed in 122 embryos obtained by IVF from 11 patients carriers of haemophilia, Duchenne's muscular dystrophy, Barth's syndrome, cystic fibrosis, Pelizaeus-Merzbacher syndrome or Rett's syndrome. After multiplex polymerase chain reaction (PCR) or fluorescence in situ hybridization (FISH) analysis with multiple probes, 28 embryos diagnosed as not affected were replaced. Of these, eight implanted (28%) and produced three ongoing pregnancies, three deliveries of four babies and a biochemical pregnancy. However, one case screened for cystic fibrosis was misdiagnosed and the pregnancy was terminated. In order to evaluate the efficiency of multiplex PCR, 55 non-replaced embryos were reassessed by PCR or by FISH. Identical results were obtained in all cases. However, one embryo which had only X-chromosome specific amplification by PCR was found to be XO in all its cells by FISH. Although multiplex PCR is demonstrated to be reliable for sexing of human embryos, FISH has the additional advantages of supplying ploidy assessment while not being affected by contamination.
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PMID:Healthy deliveries from biopsied human embryos. 792 42

Previous investigators have suggested that proteolysis by calpain, a Ca2+-dependent protease, causes muscle fiber degradation in Duchenne and Becker muscular dystrophies (DMD/BMD). Recent evidence indicates that the nonlysosomal ATP-ubiquitin-dependent proteolytic complex (proteasomes) participates in muscle wasting during various catabolic states and in muscle fiber degradation in physiological or pathological conditions. To elucidate the possible role of proteasomes in dystrophic muscles, routine histochemistry and immunohistochemistry of 26S proteasomes were performed on muscle biopsy specimens obtained from patients with various neuromuscular disorders including DMD/BMD, polymyositis (PM), amyotrophic lateral sclerosis, and peripheral neuropathies, and on normal human muscle specimens. Immunohistochemically, proteasomes were located in the cytoplasm in normal human muscle, but their staining intensity was faint. Compared to control muscles, abnormal increases in both proteasomes and ubiquitin were demonstrated mainly in the cytoplasm of necrotic fibers and to a lesser extent in regenerative fibers in DMD/BMD and PM. Non-necrotic, atrophic fibers in all diseased muscles showed moderate or weak immunoreactions for the proteins; their staining intensities were stronger than those of control muscle fibers. Both proteins often colocalized well. Not all dystrophin-deficient muscle fibers showed a strong reaction for proteasomes. Our results showed increased proteasomes in necrotic and regenerative muscle fibers in DMD/ PMD, although this may not be disease-specific up-regulation. We suggest that the ATP-ubiquitin-dependent proteolytic pathway as well as the nonlysosomal calpain pathway may participate in muscle fiber degradation in muscular dystrophy.
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PMID:Proteasome expression in the skeletal muscles of patients with muscular dystrophy. 1107 10