[The Dandy-Walker syndrome in a child with the clinical picture of infantile cerebral palsy].
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Biomedical subjects
Publications and source records attributed to L P Grinio.
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The authors describe the dopamine deficiency syndrome in children with the disease beginning during their first year and peculiar dystonia++ symptoms resulting in a total immobilization and speech loss. All the symptoms of the disease can be removed by low doses of Nakom and reappeared upon the drug withdrawal. Tyrosine hydroxylase studies performed in these patients at various stages of the disease showed an unusual pattern of the enzyme activity differing from that seen in children with similar pathology failing to improve dramatically under the Nakom treatment.
The authors showed a positive effect of the drug essential on both the lipid metabolism and motor function of their patients. The effect was most pronounced at initial stages of the disease.
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A patient with advanced X-linked myodystrophy and marked cardiovascular changes is described. Current understanding of the problem of heart muscle involvement in the myodystrophic process as well as treatment of such patients are analysed on the basis of data reported in Soviet and foreign literature.
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A large number of observations of neuromuscular diseases in humans have been analyzed. The clinical course and nature of inheritance of pathological forms differentiated according to the predominant localization of muscle damage have been found to differ within a wide range. The authors have demonstrated the possibility of significant intrafamilial variability of clinical manifestations which should be considered in medicogenetic counselling.
The authors studied the lipid composition of erythrocytic membranes and levels of pentane (a lipid peroxidation product) in the expired air in patients with Duchenne's myodystrophy. The changes found are discussed in the light of a hypothesis of the generalized membranous defect.
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Eighteen patients aged 4 to 13 years with Duchenne's progressive muscular dystrophy were examined for the content of lipid peroxidation (LPO) products (lowest volatile hydrocarbons) in the exhaled air. The level of LPO products was found to exceed normal 4-fold as compared to the control group including healthy children of the same age. The maximal increase was detected at the early stages of the disease with a rapid progressive degeneration. The role of LPO in the pathogenesis of Duchenne's muscular dystrophy and possible applications of free radical oxidation inhibitors as new effective medicinal tools are discussed.
Patients with Duchenne's progressive muscular dystrophy show a high catecholamine content in the adrenergic structures and low mitochondrial monoamine oxidase activity in the skeletal muscles. Activation of dopamine deamination in the mitochondria-surrounding medium may be accounted for by the damage te mitochondrial membrane permeability. Patients with Charcot-Marie's neural amyotrophy did not manifest any such alterations.
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The large-scale screening for hereditary diseases in five regions of the Tashauz province was carried out. More than 50 families represented by persons with different nosological forms of hereditary diseases, were found. The role of drift in rare mutant gene dynamics was shown. The load of hereditary diseases was mainly connected with autosomal recessive forms and shown to vary between the regions from 0,34 to 1,29 pro mille.