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The journal "Ateroskleroz"

2016 year, number 4

1.
POLYMORPHISM IN GENES INVOLVED IN LIPID METABOLISM IN MODY PATIENTS

M. I. Voevoda1,2, E. V. Shakhtshneider1, A. K. Ovsyannikova1, O. D. Rymar1, D. E. Ivanoshchuk1,2, A. M. Kurilshikov3, Yu. I. Ragino1
1Institute of Internal and Preventive Medicine, Novosibirsk, Russia
2Institute Cytology and Genetics, RAS, Novosibirsk, Russia
3Institute of Chemical Biology and Fundamental Medicine, RAS, Novosibirsk, Russia
Keywords: сахарный диабет, сахарный диабет зрелого типа у молодых, гиперлипидемия, полиморфизм генов, maturity onset diabetes of the young, hyperlipidemia, polymorphism, genes

Abstract >>
We have analyzed the lipid profile and polymorphism in the genes involved in lipid metabolism in patients with maturity onset diabetes of the young (MODY) in West Siberia, Russia. MODY is a heterogeneous group of disorders caused by mutations in different autosomal dominant genes with high penetration. MODY is characterized by a slow onset of symptoms, the absence of obesity, no ketosis, and no evidence of beta cell autoimmunity. Materials and methods: In the Clinical-Diagnostic Department of the Institute of Internal and Preventive Medicine, the eligible patients underwent a clinical examination, biochemical blood analysis, quantification of HbA1c, C-peptide, thyroid status, microalbuminuria testing, ultrasonography of the abdomen and kidneys, and blood glucose monitoring (MiniMed Paradigm, MMT-754). MODY2 diabetes was confirmed in 5 patients; MODY3, in 2 patients; MODY6, in 1 patient; MODY8, in 2 patients; MODY12, in 1 patient by sequencing. The plasma lipid levels were determined by standard enzymatic assays. The lipid metabolism genes ( APOA1, APOA2, APOA4, APOA5, APOB, APOC3, APOD, LDLR, LDLRAP1, LPL, PCSK9, SCARB1 and SREBF2 ) were analyzed. Results: Hyperlipidemia was detected in patients with MODY (MODY1, MODY2, MODY3 subtypes). We found the Pro434Gln polymorphism the SREBF2 gene exon 7 and the Gly2Ser polymorphism in the SCARB1 gene exon 1. We detected the Ser474Ter nonsense-mutation the LPL gene exon 9 in 2 patients. Conclusion: Polymorphism in the genes involved in lipid metabolism can cause the lipid disorder in MODY patients. Sequencing of the genes improved our understanding of the molecular basis of MODY phenotype and may help to provide the future personalized therapy.



2.
SEVERE STENOSIS OF THE CAROTID ARTERY AND CONSTITUTIONAL FEATURES IN WOMEN WITH ISCHEMIC STROKE

A. N. Sumin1, I. N. Kukhareva1, A. G. Chernobai1, V. Yu. Pavlova2, B. M. Doronin3
1FGBNU Research Institute for Complex Issues of Cardiovascular Diseases, 650002, Kemerovo, Pine Boulevard, 6. Russian Federation
2Medical University Kemerovo State Medical University, Russian Ministry of Health Kemerovo, 650056, Kemerovo. Str. Voroshilov, 22A
3Medical University Novosibirsk State Medical University, Russian Ministry of Health. Novosibirsk, 630091, Novosibirsk, st. Red Prospekt, 52
Keywords: атеросклероз каротидных артерий, конституциональный тип, инсульт, atherosclerosis carotid arteries, constitutional type, stroke

Abstract >>
The purpose of the study. To examine the relationship of severity of stenosis of carotid arteries and constitutional types in women with ischemic stroke Materials and methods. Patients evaluated the presence of cardiovascular disease, previous cardiovascular events, type, and subtype of stroke, neurological status was determined according to neurological scales. Anthropometric methods included the determination of constitutional types, different techniques. To assess the presence of atherosclerosis performed color duplex scanning of brachycephalic arteries and laboratory testing (estradiol, hCRP, lipid profile). Results. In the present study in women with ischemic stroke stenosis of carotid artery more than 50 % were found in 13.3 % of cases, less severe stenoses - in 36,0 % of cases. Differences in constitutional characteristics in groups with different severity of stenosis in the carotid arteria identified, although in separate subgroups revealed a weak but statistically significant correlation with certain constitutional types: in the group without stenosis KA - with asthenicmnarrow bone constitutional type (r=0,13) and endomorph constitutional type (r=-0,13); in the group of stenosis KA (to 49 %), asthenic (r=0,13), ectomorphy (r=0,13) and metaplasticity (r=0.14) constitutional types. At the same time, association of the severity of carotid stenosis with laboratory parameters such as the level of estradiol, CRP, the presence of dyslipidemia. Conclusion. In our study there were no differences in constitutional characteristics in groups with different severity of stenosis of the carotid arteries, although in separate subgroups revealed a weak but statistically significant correlation with certain constitutional types. It is advisable to continue the study of the constitutional characteristics, but with other clinical indicators (the relationship of genetic and constitutional factors).



3.
RAMAN-SPECTROSCOPY OF HEMOGLOBINE IN DIAGNOSTICS OF RESISTANT ARTERIAL HYPERTENSION

M.V. Kruchinina1, Ya.Sh. Schwartz1, A.A. Gromov1, V.N. Kruchinin2, V.A. Volodin2,3, S.V. Rykhlitsky2
1Therapy and Preventive Medicine Institute, Novosibirsk, Russia
2Institute of Semiconductor Physics, Novosibirsk, Russia
3NGU, Novosibirsk, Russia
Keywords: Raman-спектроскопия, гемоглобин, резистентная артериальная гипертензия, диагностики, Raman-spectroscopy, hemoglobin, resistant hypertension, diagnostics

Abstract >>
With the means of Raman-spectroscopy the changes in hemoglobin complexes in hypertensive patients (42 men), including resistant hypertension (19 people) have been studied. There is a significant decrease in the level of complexes Hb-NO (II) in patients with GRA, compared with those in patients with controlled hypertension and healthy. Discriminatory values determined Raman peak levels of hemoglobin complexes in hypertensive patients (including resistant) and in the comparison group have been observed. Set the most significant peaks of Raman-spectra of hemoglobin levels allowed the controlled and differentiated resistant hypertension - 1325, 1350, 1550, 1580, 1660, 1668 cm-1 (AUC - 0,680-0,805). The possibility of application of these parameters for diagnostic purposes was discussed.



4.
RELATIONSHIPS OF METEOROLOGICAL FACTORS WITH THE OCCURRENCE OF MYOCARDIAL INFARCTION IN MULTIVESSEL CORONARY ARTERY ATHEROSCLEROSIS IN THE NORTHERN CONDITIONS

I.A. Urvantseva1, K.Y.U. Nikolaev2, E.V. Milovanova1, A.A. Seitov1, G.I. Lifshitz3, A.A. Nikolaeva2
1County Cardiology Clinic, Surgut, Russia
2Scientific and research institute of therapy and preventive medicine, Novosibirsk, Russia
3Institute of Chemical Biology and Fundamental Medicine, Novosibirsk, Russia
Keywords: острый инфаркт миокарда с подъемом сегмента ST, многососудистое поражение коронарных артерий, метеорологические факторы, атмосферное давление, acute myocardial infarction with ST-segment elevation, multivessel coronary artery disease, meteorological factors, atmospheric pressure

Abstract >>
The aim of this study was to investigate the association of meteorological factors to the occurrence of myocardial infarction in patients with multivessel coronary atherosclerosis in the North. 337 consecutive patients (278 men and 59 women), mean age 53,7 ± 8,9 years, with acute myocardial infarction (AMI) with ST-segment elevation were examined. In 188 patients (57.0 %) has been revealed multivessel coronary artery disease. It was found that the occurrence of acute myocardial infarction in patients with multivessel coronary atherosclerosis in the North directly associated with indicators of atmospheric pressure on the day of the debut of the disease. Average daily air pressure in the debut day of acute myocardial infarction is one of the factors that directly determine the occurrence of the disease in patients with multivessel coronary atherosclerosis in North (Exp (B) = 1,04, (CI 95 %: 1,01-1, 08), p = 0,012).



5.
PPARADOXICAL ASSOCIATIONS OF NUTRITION AND OVERWEIGHT IN THE POPULATION AGED 25-45 (NOVOSIBIRSK, RUSSIA, 2013-2016)

D.V. Denisova, A.K. Kuntcevich, L.V. Shcherbakova, P.E. Vloschinsky, I.P. Berezovikova
Research Institute of internal and preventive medicine, Novosibirsk, Russia
Keywords: популяция 25-45 лет, фактическое питание, нутриенты, избыточная масса тела, ожирение, population 25-45 years, the actual nutrition, nutrients, overweight, obesity

Abstract >>
Objective: To study the dietary intake and its association with overweight in the population 25-45 years of Novosibirsk. Materials and Methods: On the basis of prevention research center of "NIITPM" during the 2013-2016 conducted a population-based survey of a random representative sample of the population 25-45 years of both sexes the inhabitants of one of the typical districts of Novosibirsk. A total of 1238 people (43% of men) were examined. The program included questionnaires, anthropometry, double blood pressure measurement, biochemical blood analysis (total cholesterol and its fractions, glucose). Nutrition was assessed by 24 dietary recall method. Results. Assessment of the nutriyion of the young-age population (25-45 years) of Novosibirsk revealed a significant imbalance of diets high in protein and fat intake. Analysis of nutrient and energy intakes among persons with overweight and obesity has shown less consumption of fat, carbohydrates, sugars, and lower caloric compared with those whose weight was normal. Conclusions: The results indicate the need to develop prevention programs in the Siberian region with regard to the nature and structure of nutrition.



6.
ATHEROSCLEROSIS, VASCULAR CALCIFICATION AND BONE LOSS (OSTEOPOROSIS): COMMON PATHOPHYSIOLOGICAL MRCHANISMS DEVELOPMENT OF THE DESEASES AND RESEARCH NOVEL DRAGS FOR DUAL THERAPIE

A. Dolzhenko1, T. Richter2, S. Sagalovsky2
1Institute of Molecular Medicine Martin-Luther University Halle-Wittenberg, Heinrich-Damerow-StraЯe 1, ZAMED 06112 Halle, Germany
2Clinic Median, ParkstraЯe 4, 04651 Bad Lausick, Germany
Keywords: атеросклероз, остеопороз, общие механизмы, RANK-RANKL-OPG система, катепсин К, деносумаб, оданакатиб, atherosclerosis, osteoporosis, common mechanisms, RANKL-RANK-OPG system, cathepsin K, denosumab, odanacatib

Abstract >>
Atherosclerosis and osteoporosis are public health problems, with several epidemiological links, and they might be related to each other in terms of pathogenesis and therapeutic agents. The correlation between atherosclerosis and osteoporosis is being established by studies of the underling pathophysiological mechanisms, which seem to coincide in many biochemical pathways, and of the risk factors for vascular disease, which have also been associated with a higher incidence of low bone mineral density. Many experiments showing that the receptor activator of NF-kB (RANK), its ligand (RANKL), and the decoy osteoprotegerin receptor (OPG) are essential, central regulators of bone metabolism were significant turning points in our understanding of bone disease. Moreover, one emerging area in vascular biology involves the RANKL-RANK-OPG system, molecules of the tumor necrosis factor-related family recently discovered to be critical regulators of vessels calcification process. Animal and human studies results confirm the RANKL-RANK-OPG role in pathogenesis of vascular calcification and osteoporosis. Thus, these molecules may play a central role in regulation the development of vascular calcification coincident with declines in skeletal mineralization. Understanding cellular and molecular mechanisms of vascular calcification and osteoporosis may potentially lead to therapeutic opportunities for treating people with osteoporosis and cardiovascular diseases.



7.
"NEW" PATHOLOGICAL CONTINUUM: A HYPOGONADISM, AN OSTEOPOROSIS AND THE CALCINATING ATHEROSCLEROSIS. GENERAL FACTORS OF FORMATION AND PROGRESSION

V. V. Kashtalap1,2, O. N. Hryachkova1, O. L. Barbarash1,2
1Federal State Budgetary Institution "Research Institute for Complex Issues of Cardiovascular Diseases", 650002, Kemerovo, Sosnoviy Blvd., 6
2Federal State Budget Educational Institution of Higher Education “Kemerovo State Medical University”, the Ministry of Health of the Russian Federation, 650029, Kemerovo, Voroshilova St., 22 A
Keywords: гипогонадизм, тестостерон, остеопороз, биомаркеры метаболизма костной ткани, кальцификация, оценка риска, hypogonadism, testosterone, osteoporosis, bone tissue metabolism biomarkers, calcification, risk assessment

Abstract >>
Modern ideas of communication of androgenic deficiency, an osteoporosis and an ectopic calcareous infiltration at patients with various diseases are covered in the review. In this article the bone tissue metabolism’biomarkers were discussed as informative for risk assessment in men with coronary artery disease. The review article summarizes available materials from foreign medical databases including MEDLINE and PubMed.



8.
LIPOPROTEIN METABOLISM DISORDERS AND HEREDITARY NEUROLOGICAL DISEASE: BASSEN-KORNZWEIG SYNDROME

A. V. Sukhanov
Research Institute of Therapy and Preventive Medicine, Novosibirsk, Russia
Keywords: синдром Бассена-Корнцвейга, гипохолестеринемия, аполипопротеин В, периферическая нейропатия, церебеллярная атаксия, пигментный ретинит, Bassen-Kornzweig syndrome, hypocholesterolemia, apolipoprotein b, peripheral neuropathy, cerebellar ataxia, retinitis pigmentosa

Abstract >>
The literature data about the association between low levels of lipids (gipoholesterinemia) with the occurrence of neurological disorders in children and adolescents at the present time remains controversial. A sharp decrease of the cholesterol, phospholipids, triglycerides, chylomicrons and apob levels or their absence leads to the development of abetalipoproteinemia (Bassen-Kornzweig syndrome). The key clinical symptoms of abetalipoproteinemia are psychomotor retardation, progressive cerebellar ataxia, pigment degeneration of the retina, peripheral neuropathy, as well as gross changes in the skeleton (severe scoliosis and pes cavus). Key laboratory signs - changes in the lipid spectrum (a sharp decrease of the blood levels of apob, total cholesterol, phospholipids, triglycerides, chylomicrons) and acanthocytes in the blood smear. The treatment is based on the replacement of fat-soluble vitamins and symptomatic therapy.