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)

A sensitive and specific radioimmunoassay has been developed for the measurement of serum Mb. immunization of rabbit with human Mb yielded anti-Mb antibody which was purified by affinity chromatography. Human hemoglobin, CK, and the component of serum per se did not appear to cross-react with the antibody. Mb was radiolabeled by the chloramine T method. The radioimmunoassay method could detect as little as 0.3 ng of Mb and was not affected by hemolysis. Information is also given on precision, recovery, and specimen preservation. Mb levels could be detected in all of 120 normal adults, and the values ranged between 1 and 28 ng/ml (mean, 13.1 +/- 6.1). No sex difference was observed. Levels were markedly elevated in all the patients with progressive muscular dystrophy, especially in the Duchenne type at the level of 40 to 1700 ng/ml. It was also noticed that about 70% of female gene carriers of Duchenne type had a slightly increased Mb level. An elevated serum Mb was also noted in polymyositis. In every case of acute myocardial infarction, serum Mb levels were increased, peak values ranging from 175 to 4400 ng/ml and averaging 1162 +/- 287.9. Mb levels were elevated faster and peaked earlier (within 6 to 12 hr after the attack) than serum CK activity and returned to nearly normal range within 3 to 4 days. The increase in serum Mb was also noticed in shock and surgery. These data indicate that radioimmunoassay of Mb is a useful test for judging the myolytic state of myogenic myopathies and for early detection of myocardial infarction.
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PMID:Radioimmunoassay for human myoglobin: methods and results in patients with skeletal muscle or myocardial disorders. 68 20

Pigs which were deficient in vitamin E and/or selenium had the following parameters weekly determined from six to 13 weeks of age: Packed cell volume, hemoglobin concentration, red cell and white cell counts, red cell indices, reticulocyte count, serum iron, serum total iron binding capacity, myeloid: erythroid ratio, serum glutamic-oxaloacetic transaminase and creatine phosphokinase activities and body weight. Except for the myeloid:erythroid ratio and serum creatine phosphokinase activity, these parameters were not found to be significantly affected by either vitamin E deficiency, selenium deficiency or deficiency of both. The myeloid:erythroid ratio was increased (p less than 0.01) in association with selenium deficiency, which tends to indicate decreased erythropoiesis but was not reflected in the peripheral red cell picture. Evidence of dyserythropoiesis was not found to be a significant feature in serial bone marrow aspiration biopsies of vitamin E and/or selenium deficient pigs. Even if the serum glutamic-oxaloacetic transaminase activities were not found to be significantly affected by either vitamin E deficiency, selenium deficiency or deficiency in both as compared to replete animals, a few animals, especially in the group deficient in both vitamin E and selenium, presented quite marked transient increases of serum glutamic-oxaloacetic transaminase activity which was interpreted to reflect the occurrence of acute episodes of hepatosis dietetica. Serum creatine phosphokinase activities were found to be increased in association with vitamin E deficiency (p less than 0.01), selenium deficiency (less than 0.05) and the interaction was also significant (p less than 0.01). It was concluded that the serum creatine phosphokinase activity increases reflect the occurrence of subclinical muscular dystrophy and that vitamin E and selenium deficiencies have marked additive effects in the induction of skeletal muscular dystrophy.
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PMID:Studies on vitamin E and selenium deficiency in young pigs. I. Hematological and biochemical changes. 83 88

Muscular dystrophy patients fall in respiratory failure in the terminal stage. Erythrocyte 2,3-diphosphoglycerate (2,3-DPG) is an important regulator of oxygen release, as it affects the position of the oxyhemoglobin dissociation curve. In order to survey the internal respiration in these patients, we studied the erythrocyte 2,3-DPG which regulates oxygen transport function. The concentration of erythrocyte 2,3-DPG was determined in 27 cases with Duchenne type muscular dystrophy and 10 cases with myotonic dystrophy (MyD). We analyzed the relation of erythrocyte 2,3-DPG to spirogram, arterial blood gas and acid-base analysis in these patients. 14 normal males were used as controls. In control subjects, the mean concentration ratio of 2,3-DPG and hemoglobin (DPG/Hb) was 0.880 +/- 0.072. 18 cases of DMD and 9 of MyD, which showed more than 45 torr of Pco2 in arterial blood gas, revealed 0.823 +/- 0.053 and 0.814 +/- 0.092 of DPG/Hb respectively. These values were significantly lower than that of controls. DPG/Hb correlated to % VC, Pao2, Paco2, pH, HCO3 and BE in DMD, but no relation to these parameters in MyD. The low ratio of DPG/Hb in erythrocyte was considered to be metabolic compensation of respiratory failure in DMD. On the other hand, 2,3-DPG of MyD seemed to be also affected by any other factors in addition to respiratory failure.
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PMID:[Erythrocyte 2,3-diphosphoglycerate in muscular dystrophy]. 275 52

Osmotic fragility was examined in red blood cells from dogs with a heritable muscle disorder that clinically resembles a muscular dystrophy. Several erythrocyte abnormalities have been reported in patients with certain forms of muscular dystrophy and it is thought that these changes reflect genetically induced alterations in the plasma membrane. It is believed that the examination of erythrocytes may eventually lead to the understanding of membrane involvement in muscle disorders. In this study, the mean osmotic fragility was found to be significantly lower in affected cells than in normal cells. These differences were maintained regardless of changes in incubation temperature (5 degrees, 20 degrees, or 35 degrees C) and pH (6.5, 7.0, 7.5, or 8.0). Quantitative analysis of glycolytic metabolites and adenine nucleotide concentrations revealed little variance between erythrocytes from normal and affected animals. Similarly, the pattern of membrane protein phosphorylation in intact erythrocytes from affected animals did not differ from that observed when erythrocytes from normal animals were examined. Of the red cell indices measured, the erythrocyte count in affected animals was moderately increased, but both the mean corpuscular volume and mean corpuscular hemoglobin content were significantly reduced. From these data it is concluded that the decrease in osmotic fragility cannot be explained by differences in cell metabolism or energy production. However, the decrease in affected cell mean corpuscular volume and mean corpuscular hemoglobin content may be correlated with the decrease in osmotic fragility in a manner similar to that observed in the hemolytic disorder of beta-thalassemia.
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PMID:Decreased osmotic fragility in heritable canine myopathy. 688 Nov 36