1 61 8 ЯКУТСКИЙ МЕДИЦИНСКИЙ ЖУРНАЛ YAKUT MEDICAL SCIENTIFIC - PRACTICAL JOURNAL OF THE YAKUT SCIENCE CENTRE JOURNAL OF COMPLEX MEDICAL PROBLEMS ISSN 1813-1905 (print) ISSN 2312-1017 (online) 1(61) `2018 ЯКУТСКИЙ МЕДИЦИНСКИЙ ЖУРНАЛ The founder The Yakut Science Centre of Complex Medical Problems YAKUT Editor- in- chief Romanova A.N., MD Editorial Board: MEDICAL Deputy Chief Editor and Executive secretary Nikolaev V.P., MD Scientifc editor JOURNAL Platonov F.A. MD Editorial Council: SCIENTIFIC - PRACTICAL JOURNAL Aftanas L.I., MD, Professor, OF THE YAKUT SCIENCE CENTRE OF COMPLEX acad. RAMS (Novosibirsk) MEDICAL PROBLEMS Voevoda M.I., MD, Professor, Corresponding Member RAMS (Novosibirsk) Ivanov P.M., MD, Professor (Yakutsk) Kryubezi Eric, MD, Professor (France) Quarterly Maksimova N.R., MD (Yakutsk) Mironova G.E., Doctor of Biology, Registered by the Offce of the Federal Service on Professor (Yakutsk) supervision in the feld of communications, information Mikhailova E.I., Doctor of Pedagogics, Professor (Yakutsk) technologies and mass communications in the Republic Nikitin Yu.P., MD, Professor, Sakha (Yakutia) December 13/2016 Acad. RAMS (Novosibirsk) Odland John, MD, Professor (Norway) Registration number PI No.ТU 14-00475 Puzyrev V.P., MD, Professor, Acad. RAMS (Tomsk) Subscription index: 78781 Reutio Arya, MD, PhD, Professor (Finland) Fedorova S.A., Doctor of Biology (Yakutsk) Free price Husebek Anne, MD, Professor (Norway) Khusnutdinova E.K., Doctor of Biology, Professor (Ufa) «Yakut Medical Journal» is included in the approved by Editors: the Higher Attestation Commission of the Russian Chuvashova I.I., Federation List of leading peer-reviewed scientifc Kononova S.l. journals and publications, in which the main scientifc Semenova T.F. (English) results of dissertations for the acquisition of scientifc degrees of Doctor and Candidate of science on Computer design biological sciences and medicine should be published. Nikolasjkina A.A. Chekurova S.M. (English) The journal is included in the international directory system under periodic and proceeding editions “Ulrich’s Address: International Periodicals Directory” Sergelyakhskoe Highway, 4, Yakutsk Republic Sakha (Yakutia) Russian Federation 677019 Fax: +7 (4112) 32-19-81; Phone: +7 (4112) 39-55-52 [email protected] e-mail: [email protected] http: // www.ymj.mednauka.com The articles are given in the authors’ translation © YSC CMP, 2018 2 YAKUT MEDICAL JOURNAL CONTENTS 5 Original researches Solovyova N.A., Kurtanov Kh.A., Pavlova N.I., Sizykh E.Yu., Mikhailova U.N. Research of the role of polymorphic options of interleukins genes in development of asthma in the Yakut population 8 Kurtanov Kh.A., Sydykova L.A., Pavlova N.I., Filippova N.P., Apsolikhova G.A., Solovyova N.A., Dodokhov V.V., Varlamova M.A., D’jakonova A.T., Neustroeva L.M., Borisova N.V. Research of adiponutrin gene (PNPLA3) in indigenous people of the Republic Sakha (Yakutia) with type 2 diabetes 11 Sofronova S.I. Arterial hypertension and metabolic syndrome in small indigenous people of the North of Yakutia 14 Varlamova M.A., Nikolaeva I.A., Gurinova E.E., Sukhomyasova A.L., Nogovitsina A.N., Maksimova N.R. Dentatorubral-pallidoluysian atrophy in the selection of unidentifed spinocebellar ataxies in Yakutia 17 Kononova S.K., Sidorova O.G., Varlamova M.A., Kurtanov Kh.A., Platonov F.A., Izhevskaya V.L., Khusnutdinova E.K., Fedorova S.A. The issue of the fate of a foetus with a mutation after a prenatal diagnosis of spinocerebellar ataxia type I in comparison with myotonic dystrophy in the Sakha Republic (Yakutia) 20 Ushnitsky I.D., Mironova L.S., Gogolev I.I., Davydova M.M. Clinical and genetic aspects of congenital lip and palate clefts in children of Yakutia 22 Methods of diagnosis and treatment Savel’ev V.V., Vinokurov M.M., Vinokurov M.A., Parfenova AV Experience of laparoscopic appendectomy in the multidisciplinary surgical center of the Republic Sakha (Yakutia) 24 Pestereva V.N., Atlasova L.M., Bessonov P.P., Bessonova N.G., Skryabina T.V., Kopylova D.V., Makarov AD Prospects and risks of liver transplantation in the Republic Sakha (Yakutia) 27 Kalabin O.V., Spitsin A.P. Features of the heart rate variability of powerlifters under the infuence of the training process 30 Mamaeva S.N., Maksimov G.V., Golderova A.S., Munkhalova Ya.A., Pavlov A.N., Fedorov A.L. Infrared spectroscopy of children with macrohematuria syndrome 33 Organization of healthcare, medical science and education Tarabukina S.M., Lopatina S.V., Afanasyeva E.B. 37 Methodical approaches to assessing the availability of narcotic drugs and psychotropic substances used in medical practice in the Republic Sakha (Yakutia) 1’ 2018 3 35 Hygiene, sanitation, epidemiology and medical ecology Shadrina L.P., Strekalovskaya A.A., Petrova P.G., Androsova T.A., Bosikov DV The infuence of geomagnetic storms on the development of hypertensive crises (at the example of Yakutsk residents) 40 Ivanova O.N., Golderova A.S. The study of immunity features in children with chronic nasopharyngitis 41 Arctic medicine Zakharova R.N., Fedorov A.I., Sleptsova S.S., Podoynitsyna I.I., Mikhaylova A.V., Baltahinova M.E. Quality of life of the working-age population of the Eastern economic zone of Yakutia 44 Timofeev L.F., Petrova P.G., Borisova N.V., Turkebaeva L.K., Timofeev A.L. The medical and demographic situation in the Central economic zone of the Republic Sakha (Yakutia) 47 Ivanova A.A., Potapov A.F., Kakorina E.P. Premature mortality of the population of the Republic Sakha (Yakutia) from external causes 51 Postoev V.A., Menshikova L.I., Usynina A.A., Grzhibovsky A.M., Odland J.O. Assessment of prevalence and structure of congenital malformations in Arkhangelsk region in 2012-2014 according to the Birth Register of Arkhangelsk oblast 55 Shapovalov K.A., Shapovalova L.A., Zaboeva M.V., Kalinina T.A., Toropova O.E. Features of the formation of disability among the contingent of the city children’s polyclinic of the regional center of the subarctic territory 59 Actual topic Douglas N.I., Baisheva N.S., Burtseva T.E., Pavlova T.Yu., Evseeva S.A. The dynamics of premature birth and perinatal mortality in the Republic Sakha (Yakutia) Ivanov P.M., Abramov A.F., Afanasyeva L.N., Ivanova F.G., 62 Golderova A.S., Romanova A.N., Kipriyanova N.S., Nikolaeva T.I., Zharnikova T.N., Myreeva S.A. The state of the hydrosphere and malignant neoplasms in Yakutia 67 Scientifc reviews and lectures Neustroeva L.M., Pavlova N.I., Solovyova N.A., D’jakonova A.T., Varlamova M.A., Filippova N.P., Dodokhov V.V., Kurtanov Kh .A. Neurofbromatosis type I: etiopathogenesis, clinic, diagnosis, treatment 70 Burtseva T.E., Nelunova T.I., Chasnyk V.G., Evseeva S.A., Munkhalova Ya.A. Genetic and external environmental risk factors for congenital heart disease in children 4 YAKUT MEDICAL JOURNAL 73 Larinskaya A.V., Yurkevich A.V., Ushnitsky I.D., Kruglov Т.Е. Comparative characteristics of modern endogermetics 75 Strelnikova N.V., Antonova A.A., Starovoitova E.L., Shevchenko O.L., Koltsov I.P., Turkukyukov V.B., Elistratova M.I., Martilova T.O. Caries of temporary teeth and its complications in children as a socially signifcant infectious disease 79 Ushnitsky I.D., Ivanov A.V., Ivanova A.A., Yurkevich A.V., Seydalova EM, Novogodin A.A. Clinical-epidemiological characteristics of pathological processes of periodontal tissues of infammatory-destructive nature 83 Clinical case Korostelev A.S., Bulatov A.V., Anisimov S.S., Potapov A.F., Zakharov P.I., Ivanova A.A. Intensive therapy for severe post-operative complications in a CAD patient after a bypass surgery Nikolaeva L.E. Ivanova O.N., Argunova E.F. 86 Clinical case of bronchiectasis in the 16 years old teenager Yakovlev A.A., Vinokurov M.M., Vinokurov A.V. 88 Regional thrombolysis with massive thromboembolism of the pulmonary artery in a woman in the frst trimester of pregnancy 1’ 2018 5 ORIGINAL RESEARCHES N.A. Solovyova, Kh.A. Kurtanov, N.I. Pavlova, E.Yu. Sizykh, M.N. Mikhaylova RESEARCH OF THE ROLE OF POLYMORPHIC OPTIONS OF INTERLEUKINS GENES IN DEVELOPMENT OF ASTHMA IN THE YAKUT POPULATION ABSTRACT The purpose of this study was to investigate the polymorphic loci of interleukins genes IL4 (C589T, G/C3’UTR), IL4R (Q551R, I50V), IL5 (C703T), IL5RA (G80A), IL9 (T113M) in patients with asthma and in the control group of individuals. As a result of the analysis, we showed that the markers of an increased risk of developing asthma in the children-Yakuts are the C allele and the CC genotype (G/C 3’UTR) of the IL4 gene, the T allele and the genotype TT (C589T) of the IL4 gene, the allele of the R (Q551R) gene IL4RA, allele I (I50V) of IL4RA gene, allele M (T113M) of IL9 gene. Thus, this study for the frst time shows the association of polymorphic variants of IL4, IL4RA, IL9 genes with the development of asthma in the Yakut population. Keywords: asthma, association analysis, genes, Yakut population. INTRODUCTION allows carrying out therapy taking into of the general IgE in serum 100ME/ml Comparative epidemiological re- account ethnic and genetic features of with the confrmed diagnosis easy, medi- searches of the last years constantly con- patients. um-weight, heavy BA for 12 months until frm the high prevalence of the bronchial In our research we analyzed associ- inclusion in a research. The diagnosis asthma (BA) around the world which is ation of one-nucleotide polymorphisms was verifed on the basis of the following followed by broad variability [9] that is of genes of IL4 (C589T, G/C3’UTR), criteria: existence of the anamnesis char- connected not only with problems in di- IL4R (Q551R, I50V), IL5 (C703T), IL5RA acteristic of BA, typical clinical symptoms agnostics, but also with structure of sus- (G80A), IL9 (T113M) with bronchial of a disease (short wind, cough, suffoca- ceptibility to this disease in various popu- asthma in the Yakut population.