[State of the pancreatic insular apparatus in Erb-Roth and Landouzy-Dejerine progressive muscular dystrophies].
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The activity of enzymes participating mainly in oxidative processes taking place in peripheral blood leucocytes was determined: malic dehydrogenase, glycerophosphate oxidase, and mitochondrial ATP-ase. The investigations were carried out in 29 patients with Duchenne type of muscular dystrophy, their 23 mothers, 4 sisters, and in 14 cases of other muscular dystrophies, and 4 patients with spinal muscular atrophy as well as in controls. Changes were found in the activity of these enzymes, particularly malic dehydrogenase in patients with Duchenne type of dystrophy and in some carriers of this disease.
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We studied the behaviour of serum myoglobin in 32 children affected by Duchenne muscular dystrophy, in 30 mothers (10 definite carriers and 20 possible carriers), in 5 sisters (possible carriers) and in 40 healthy women (control). The serum myoglobin was always increased in the patients affected by Duchenne muscular dystrophy; the greatest values were in the patients who were still ambulant, with a behaviour similar to creatine kinase. In the carriers the myoglobinemia showed a significant increase in definite carriers, while there was no significant difference between the possible carriers and the controls.
We studied the in vitro function of polymorphonuclear leukocytes in 14 patients affected by Duchenne muscular dystrophy, aged 2-14 years, especially the chemotaxis and the bactericidal activity. The chemotaxis appeared significantly reduced, while the bactericidal activity was sometimes reduced, sometimes increased. In this disease the polymorphonuclear leukocytes seems to have a reduced capacity of movement; probably this phenomenon is connected with an alteration of the muscular cellular apparatus, which perhaps is related with an electrolytic intercellular inequality. These findings are consistent with the definition of Duchenne muscular dystrophy as a systemic disease of the membrane with alterations not only of striped muscular fibers, but of various cells and tissues.
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