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RNA SEQUENCING OF SQUAMOUS ESOPHAGEAL CANCER: FROM THE COLLECTION OF THE BIOMATERIAL UNTIL SEQUENCING ON HISEQ2000
The squamous esophageal cancer is a disease which is highly frequent in Kazakhstan, the frequency of the disease is 10,1:100 000. In the mortality structure esophageal cancer takes place among men the 5th place, among women the 9th place in the Republic of Kazakhstan. The molecular mechanisms which contribute to the initiation and progression of the cancer pathology are not investigated enough. Nevertheless, the lack of the sensitive and specific biomarkers for the diagnosis of the cancer diseases, underlines about the necessity of the additional research works to study about the development o...
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2016 year | Issue: 5 | Pages: 53-63
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... More
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... More
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... More
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... More
2016 year | Issue: 4 | Pages: 145-165