I M Novikova

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We present a female child with mild mental retardation and congenital malformations. After fluorescence in situ hybridization (FISH) we found only abnormal karyotype in all cells. We used rapid FISH and original DNA probes--PAC62.10.1 and PAC20.19.N, specific for segments of chromosome 16q24. Karyotype of proband 46,XX.ish del(16)(q24.2:)(More)
On examination of children with primary diagnosis of mucopolysaccharidosis distinct deficiency of acid alpha-D-mannosidase was found in leukocytes of the children and decrease in the enzymatic activity down to the level of heterozygote carriers was observed in their parents. The activity of neutral alpha-D-mannosidase was within the range of normal values(More)
Cardiovascular catastrophes (myocardial infarction and stroke occur relatively rarely during pregnancy, but they are menacing complications that frequently result in a fatal outcome. The global pattern of vascular catastrophes determines the need for applying an interdisciplinary approach to this problem and for combining the efforts of different(More)
Aim of the study was to assess effect of fenofibrate on lipid blood composition, markers of inflammation and the state of vascular wall in patients with type 2 diabetes mellitus (DB2). We randomized 73 patients with DB2 in 2 groups. Patients of group one (n = 34) in addition to hypoglycemic and lipid lowering therapy with statins received fenofibrate (145(More)