Online ISSN: 3007-0244,
Print ISSN:  2410-4280
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DEVELOPMENT OF HALOPLEX PANEL AND PREPARATION OF DNA LIBRARIES FOR TARGETED SEQUENCING OF CARDIAC ARRHYTHMIAS
Method of preparation of custom HaloPlex cardiogenetic panel (Agilent Technologies) and method of preparation of DNA libraries for targeted sequencing of 96 genes associated with cardiac arrhythmias were described in details in this article. SureDesign Online Design software (Agilent Technologies) was used to create the HaloPlex panel. Final design was developed for Illumina platform using Human Genome version 19, GRCh 37. 19958 amplicons were generated by the program, 99,46% of all target regions were covered successfully. DNA libraries were prepared for 48 samples using t...
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2016 year | Issue: 5 | Pages: 43-52

DETERMINATION OF GENETIC VARIANTS ASSOCIATED WITH HYPERTENSION, OBESITY AND DIABETES IN KAZAKH POPULATION TO STUDY INTERACTION OF GENETIC VARIANTS AND METABOLOME
In this work genetic variants associated with hypertension, obesity and diabetes were characterized, and genomic data of 60 samples were compared using Т-HOD (The Text-mined Hypertension, Obesity and Diabetes candidate gene database (T-HOD) international database.
Genetic variants extracted from whole genomes and exomes, and associated with hypertension, obesity and diabetes based on PolyPhen2 and SIFT algorithmic predictors of mutation pathogenicity were analyzed. Seven genetic variants were detected in GHRL (rs4684677), MTHFR (rs1801133), OPRM1 (rs17999...
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2016 year | Issue: 5 | Pages: 30-42

REPORT ABOUT THE CONFERENCE: THE INTERNATIONAL WОRLD HEALTH ORGANIZATION CONSULTATION ON NUTRITION AND PREGNANCY (27-28 June 2016, RIGA, LATVIA)
27-28 June 2016, Riga, Latvia hosted the International WHO consultation on nutrition and pregnancy, with participation of experts in the field of maternal and child health and the WHO Collaborating Centers from Poland, Latvia, Lithuania, Estonia, Italy, the UK, Kazakhstan, Tajikistan, Uzbekistan, Kyrgyzstan, Georgia, Armenia and Moldova. The key problems of women's health and nutrition, according to speakers from different countries are the following: the growth of overweight and obesity among women, excessive weight gain during pregnancy, low rates of exclusive breastfeeding in the first ...
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2016 year | Issue: 4 | Pages: 166-172

MODERN LAVAGE OF THE GASTROINTESTINAL TRACT FROM THE PERSPECTIVE OF THE QUALITY OF DIAGNOSIS AND TREATMENT IN ENDOSCOPIC, BARIATRIC SURGERY (LITERATURE REVIEW)
Introduction. The issue of quality lavage for the gastrointestinal tract before an abdominal surgery and endoscopic examination is of paramount significance, especially in patients with visceral obesity.
The aim of the study is to study historical aspects of intestinal cleansing, identify optimal ways to lavage and define its tolerability by patients.
Research methods. The review examines the effectiveness of different lavage techniques and patients’ preparation before surgeries and endoscopic examinations. The analysis of 77 sources relevant to the results of the study is also inc...
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2016 year | Issue: 4 | Pages: 145-165

HYPERHOMOCYSTEINEMIA AS A RISK FACTOR OF CARDIOVASCULAR DISEASES
Cardiovascular diseases are the leading cause of death. In this regard, the importance of the prevention problem increases, which is aimed at the identification and elimination of risk factors, which include elevated levels of homocysteine in the blood.
In recent years, actively studying the possibility of the use of B vitamins in vascular and neurodegenerative diseases. One of the main factors of hyperhomocysteinemia is the deficiency of vitamins B6, B12, B9 resulting from the features of the diet and impaired absorption. It was found that the use of preparations of B vitamins can reduc...
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2016 year | Issue: 4 | Pages: 129-144