[Effect of valproic acid on SMN protein level in peripheral blood mononuclear cells of patients with spinal muscular atrophy and different SMN2 copy numbers].

Objective: Spinal muscular atrophy (SMA) is currently untreatable hereditary disorder caused by few types of mutations in the SMN1 gene and respective lack of gene's product - survival motor neuron protein (SMN). Last decade studies have shown that phenotype of the disorder is substantially influenced by copy numbers of homologous SMN2 gene; also, an ability of valproic acid to increase the level of SMN in vitro and in vivo has been shown. We investigated an effect of valproic acid on SMN level in peripheral blood mononuclear cells derived from patients with SMA and their parents and sought for possible predictors for treatment efficacy.

[Diseases of the cardiovascular system and the function of the endocrine glands in veterans of Soviet Antarctic expeditions].

The authors examined 58 men who had repeatedly participated in the Antarctic expeditions. In addition to a profound study of the cardiovascular system, the insulin tolerance test (0.1 U/kg simple insulin injected by intravenous drip for 90 minutes) was made, permitting the degree of tissue insulin resistance to be quantitatively estimated with measurements of the content of cyclic nucleotides in blood leukocytes and of immunoreactive insulin, C-peptide and counterinsular hormones in the blood before and after the functional test.