[Assessment of Risk Factors for Atherosclerosis in Individuals of Different Categories of Cardiovascular Risk Using the Aterostop Calculator].

Aim        To analyze first results of using the Aterostop calculator for a comprehensive evaluation of the risk for cardiovascular diseases (CVD).Material and methods        A cross-sectional study analyzed major and additional risk factors in 460 subjects without apparent disease and in patients with documented CVD of atherosclerotic origin using the application (calculator) Aterostop developed in the National Medical Research Center of Cardiology in Moscow, Russia.Results   45.

The , , and Variants of Index Patients with Familial Hypercholesterolemia in Russia.

Familial hypercholesterolemia (FH) is a common autosomal codominant disorder, characterized by elevated low-density lipoprotein cholesterol levels causing premature atherosclerotic cardiovascular disease. About 2900 variants of , , and genes potentially associated with FH have been described earlier. Nevertheless, the genetics of FH in a Russian population is poorly understood.

[The effect of ABCA1 rs2230806 common gene variant on plasma lipid levels in patients with dyslipidemia.].

The aim of this work was to assess the relationship of rs2230806 SNP of ABCA1 with lipid profile in patients with severe dyslipidemia. The study included 363 patients (42.8% of males), the average age was 48.

[Giant Aneurysms in Coronary Arteries of a Young Woman].

Coronary arteries aneurysms with their thrombotic occlusion are known to be detected in young patients who have suffered Kawasaki disease in childhood. The other vascular beds are usually not involved. In the literature one can find not enough information regarding diagnostics of this pathology, as well as no specific treatment algorithm.

[THE EFFECT OF SATINS: ACTIVATION OF LIPOLYSIS AND ABSORPTION BY INSULIN-DEPENDED CELLS LIPOPROTEINS OF VERY LOW DENSITY, INCREASING OF BIO-AVAILABILITY OF POLYENOIC FATTY ACIDS AND DECREASING OF CHOLESTEROL OF LIPOPROTEINS OF LOW DENSITY].

The Russian cardiologic R&D production complex of Minzdrav of Russia, 121552 Moscow, Russia The statins are synthetic xenobiotics alien to animal cells. They are unlikely capable to manifest pleiotropic effect. It is feasible to evaluate effect of statins by stages: a) initially a specific inhibition of synthesis of cholesterol alcohol; b) further indirect activation of hydrolysis of triglycerides in lipoproteins of very low density; c) nonspecific activation of cells' receptor absorption of palmitic and oleic lipoproteins of very low density and then d) linoleic and linolenic lipoproteins of low density with all polyenoic fatty acids.

[Mass spectrometry analysis of blood plasma lipidome as method of disease diagnostics, evuation of effectiveness and optimization of drug therapy].

A new method for the analysis of blood lipid based on direct mass spectrometry of lipophilic low molecular weight fraction of blood plasma has been considered. Such technique allows quantification of hundreds of various types of lipids and this changes existing concepts on diagnostics of lipid disorders and related diseases. The versatility and quickness of the method significantly simplify its wide use.

[The unity of pathogenesis of insulin resistance syndrome and non-alcoholic fatty disease of liver. The metabolic disorder of fatty acids and triglycerides].

The pathogenesis of non-alcoholic fatty disease of liver (steatosis) is still as unclear as a loss of hepatocytes similar to apoptosis, development of biological reaction of inflammation, its transformation into steatohepatitis with subsequent fibrosis and formation of atrophic cirrhosis. The article suggests that steatosis is developed due to higher concentration of palmitic saturated fatty acid (C 16:0) in food, intensification of its endogenic synthesis from food carbohydrates and glucose and development of insulin resistance. It is displayed in in hormone ability to activate both oxidation in cells of glucose and synthesis of oleic monoene fatty acid from palmitic saturated fatty acid (C 18:1).

[Clinical and laboratory detection of phenotypic characteristics in patients with high hypertriglyceridemia].

The purpose of the study was to define the values of clinical and biochemical (phenotypic) differences in 2 groups of patients: 1) those with moderate (< or =4.5 mmol/l) blood triglyceride (TG) levels and 2) those with high (more than 4.5 mmol/l) blood TG levels and to reveal significant parameters of a diagnostic algorithm for primary and secondary forms of hypertriglyceridemia (HTG).

[Effect of polymorphisms of cytochrome P450 and apolipoprotein E genes on therapeutic efficacy of statins].

Statins are widely used in clinical practice for lowering of levels of atherogenic blood plasma lipids and treatment of atherosclerosis. Variability of response of the body to these drugs might be determined by genetic factors (gene polymorphisms) related to metabolism of drugs. Among them central place belongs to enzymes of subfamily 3A of cytochrome P450 (CYP).

[Diagnostics of moderate and high hypertriglyceridemia in patients in polyclinic practice: primary and secondary lipid metabolic disorders].

Aim: To define clinical and biochemical differences in groups of patients with moderate (< or =4.5 mmol/l and high (more than 4.5 mmol/l) blood triglyceride (TG) levels.

[Treatment of patients with hypertriglyceridemia].

Aim: To assess a hypolipidemic effect and tolerance of phenofibrate (lipantil 200M) in different variants of treatment in patients with combined hyperlipidemia having moderate and high levels of triglycerides (TG).

Material And Methods: A total of 26 patients (16 males, 10 females; age 32-67, mean age 55.1 years) received lipantil 200M (phenofibrate) in a dose 200 mg for 12 weeks either as monotherapy or in combination with statins (or fibrate) or plasmapheresis.

[Familial hypercholesterolemia in Russia: genetic and phenotypic characteristics].

Aim: To make qualitative and quantitative analyses of phenotypical characteristics and to study a spectrum and frequency of mutations in LDLR and APOB genes in patients with familial heterozygous hypercholesterolemia (FHHC).

Material And Methods: Clinical symptoms of FHHC were studied in males and females. Mutations were detected with PCR, analysis of SSCP of all the exones of LDLR gene and a fragment of exone 26 of APOB gene with subsequent sequestration of DNA fragments with anomalous electrophoretic motility, analysis of restriction fragments length polymorphism.

[Phenotypical features of a heterozygous form of familial hypercholesterolemia].

Aim: To conduct a quantitative and qualitative analysis of phenotypical manifestations in patients with a heterozygous form of familial hypercholesterolemia (FHC) and to reveal factors involved in their development.

Material And Methods: A total of 247 patients with a clinical diagnosis of heterozygous FHC participated in the trial. Clinical manifestations of the disease in men and women were analysed and compared.

[Genetic structure of the Udmurt population].

Integrated study of the genetic structure of the Udmurt population with respect to different genetic systems has been performed. Data on the genes of genetic diseases, abiotic parameters analyzed by population statistic methods, and DNA polymorphism are summarized. The populations of six raions (districts) of Udmurt Republic (the Mozhga, Malaya Purga, Sharkan, Debesy, Igra, and Glazov raions) have been studied.

[Population study of the Udmurt population: analysis of ten polymorphic DNA loci of the nuclear genome].

Genetic structure of Southern and Northern ethnographic groups of the Udmurt population from six regions of the Republic of Udmurtia has been studied. All the samples were examined using ten polymorphic DNA loci: VNTR/PAH, VNTR/ApoB, VNTR/DAT1, VNTR/eNOS, ACE, CCR5delta32, KM19, IVS6a, THOI, and FABP2. Allelic and genotype frequencies were estimated for each of the six populations.

[Marriage-migration characteristics of the urban and rural populations of Udmurtia].

Marriage records of six raions (districts) of Udmurtia and the city of Glazov (a total of 10,518 records) have been used to calculate marriage-migration parameters. The endogamy indices of the rural and urban Udmurt populations are 0.59 (from 0.

[Genetic factors of risk of ischemic heart disease development in patients with familial hypercholesterolemia].

Unlabelled: Ischemic heart disease (IHD) develops in patients with familial hypercholesterolemia (FHC) 15-20 years earlier than in general population. However age of onset of the disease, its clinical manifestations are variable and not completely determined by cholesterol level and class of low density lipoprotein receptor mutations.

Aim: To elucidate associations of some auxiliary genetic factors -- such as C151565T, C677T, R353Q polymorphisms of glycoprotein IIIa (GPIIIa), methylenetetrahydrofolate reductase (MTHFR) and coagulation factor VII genes, respectively, -- with the presence of IHD in patients with FHC.

[Low density lipoprotein receptor gene mutations in patients with clinical diagnosis of familial hypercholesterolemia.].

Unlabelled: Low density lipoprotein receptor (LDLR) gene mutations cause familial hypercholesterolemia which is associated with elevated risk of ischemic heart disease.

Aim: To define LDLR gene mutations in unrelated patients with heterozygous familial hypercholesterolemia in Russia.

Methods: PCR- single-strand conformation polymorphism analysis, automated DNA sequencing, and test for the presence of the apolipoprotein (apo) B-3500 mutation known to induce hereditary defect in apo-B-100.

[Multiple molecular-genetic defects in a woman with mixed hyperlipoproteinemia and early ischemic heart disease].

Aim: Analysis of genes of apolipoprotein E (apoE), LDLP receptor and methylentetrahydrofolate reductase (MTHFR) in a female patient with mixed hyperlipoproteinemia (HLP) and early ischemic heart disease (IHD).

Material And Methods: A patient with a mixed form of HLP and 5 her relatives were examined genetically. The genotype of apoE and MTHFR was determined using a restrictive analysis of PCR fragments.

[Clinical signs of homozygous familial hypercholesterolemia].

During 15 years 12 patients with clinically verified diagnosis homozygous familial hypercholesterolemia were treated in the A.L. Myasnikov Institute of Clinical Cardiology.

Sialyltransferase activity of human plasma and aortic intima is enhanced in atherosclerosis.

Sialyltransferase activity has been determined in membrane preparations containing the Golgi apparatus that were isolated from atherosclerotic and normal human aortic intima as well as in plasma of patients with documented atherosclerosis and healthy donors by measuring the transfer of N-acetylneuraminic acid (NeuAc) from CMP-NeuAc to asialofetuin. The asialofetuin sialyltransferase activity was found to be 2 times higher in the atherosclerotic intima as compared to the normal intima and 2-fold higher in patients' plasma than in that from healthy donors. The mean values of the apparent Michaelis constant (K(m)) for the sialylating enzyme for both tissues did not differ and were close for the intima and plasma.

[Application of DNA analysis for differential diagnosis of familial hypercholesterolemia and familial defect of apolipoprotein b-100].

Aim: To determine occurrence of apolipoprotein B-100 mutation in codon 3500 (apoB3500) in patients with primary hypercholesterolemia in Russia.

Materials And Methods: The study included 71 patients with clinical diagnosis of familial hypercholesterolemia (FH) and 24 relatives. All the subjects were tested for the presence of apoB3500 mutation using polymerase chain reaction and cleavage with restriction enzyme HhaII.