RESEARCH RESULTS IN BIOMEDICINE最新文献

{"title":"Mendelian randomization: using genetic information in epidemiological studies (review)","authors":"D. Plotnikov","doi":"10.18413/2658-6533-2023-9-2-0-1","DOIUrl":"https://doi.org/10.18413/2658-6533-2023-9-2-0-1","url":null,"abstract":"","PeriodicalId":20921,"journal":{"name":"RESEARCH RESULTS IN BIOMEDICINE","volume":"18 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85718413","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The impact of rehabilitation measures on the geriatric profile of patients with glaucoma","authors":"","doi":"10.18413/2658-6533-2023-9-1-0-10","DOIUrl":"https://doi.org/10.18413/2658-6533-2023-9-1-0-10","url":null,"abstract":"","PeriodicalId":20921,"journal":{"name":"RESEARCH RESULTS IN BIOMEDICINE","volume":"26 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88031781","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic determinants of sex hormone levels in endometriosis patients [Ссылка на источник: Golovchenko IO. Genetic determinants of sex hormone levels in endometriosis patients. Research Results in Biomedicine","authors":"I. Golovchenko","doi":"10.18413/2658-6533-2023-9-1-0-1","DOIUrl":"https://doi.org/10.18413/2658-6533-2023-9-1-0-1","url":null,"abstract":"Background: Endometriosis is a chronic hormone-dependent inflammatory disease determined by the presence of foci of the endometrial tissue outside the uterine cavity. Genetic factors occupy a leading position in the etiopathogenesis of this disease. With endometriosis, there is a pronounced hormonal imbalance in the sex hormones both in the lesion and in the body of the sick woman as a whole. The aim of the study:To study the associations of polymorphism of sex hormone genes with the hormonal profile of patients with endometriosis. Materials and methods: The study group included 103 patients with endometriosis, in whom the levels of sex hormones (follicle-stimulating hormone, luteinizing hormone, prolactin, estradiol, progesterone, testosterone and dehydroepiandrosterone) were studied. The genotyping of 9 single nucleotide polymorphisms (SNP) of GWAS-significant sex hormone genes was carried out (rs148982377 ZNF789, rs34670419 ZKSCAN5, rs11031002 and rs11031005 FSHB, rs112295236 SLC22A10, rs117585797 ANO2, rs117145500 CHD9, rs727428 SHBG, rs1641549 TP53). The associations of SNPs with the level of sex hormones in patients with endometriosis were investigated by linear regression. Results: In patients with endometriosis, the serum estradiol level is associated with polymorphic loci rs148982377 ZNF789 (β=-0.488 - -0.445, pperm≤0.050) and rs34670419 ZKSCAN5 (β=-0.544 - -0.449, pperm≤0.050), luteinizing hormone – rs117585797 ANO2 (β= 0.618 - 0.709, pperm≤0.050), progesterone – rs117145500 CHD9 (β=0.365 - 0.429, pperm<0.050), prolactin – rs1641549 TP53 (β=-0.306 - -0.218, pperm<0.050), testosterone – rs148982377 ZNF789 and rs34670419 ZKSCAN5 (β=0.492, pperm=0.050). Conclusion: Associations of candidate gene polymorphism with the level of sex hormones in patients with endometriosis have been established.","PeriodicalId":20921,"journal":{"name":"RESEARCH RESULTS IN BIOMEDICINE","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89275842","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"State of colon parietal microbiota and antioxidant properties of colonocytes in rats with ecological dysbiosis treated with sea vitamin E and buckthorn oil","authors":"","doi":"10.18413/2658-6533-2023-9-1-0-5","DOIUrl":"https://doi.org/10.18413/2658-6533-2023-9-1-0-5","url":null,"abstract":"","PeriodicalId":20921,"journal":{"name":"RESEARCH RESULTS IN BIOMEDICINE","volume":"23 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76526580","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The role of molecular genetic changes in the structure of the CDH1 gene in the development of gastric cancer in patients from the Republic of Bashkortostan","authors":"A. Nurgalieva, L. F. Gallyamova, R. Valiev, Sabina G. Petrova, M. Dzhaubermezov, D. Prokofieva, Natalia Ekomasova, Radmir R. Rakhimov, D. Sakaeva, S. Khusnutdinov, E. Khusnutdinova","doi":"10.18413/2658-6533-2023-9-1-0-3","DOIUrl":"https://doi.org/10.18413/2658-6533-2023-9-1-0-3","url":null,"abstract":"Gastric cancer (GC) is one of the most serious diseases, occupying a leading position among the causes of death from malignant neoplasms in the world. The Republic of Bashkortostan (RB) also has high rates of morbidity and mortality due to malignant neoplasms of the stomach. One of the main genes that determine a high risk of predisposition to this pathology is the CDH1 gene. The aim of the study: Search for changes in the nucleotide sequence in the CDH1 gene in patients with gastric cancer from the Republic of Bashkortostan. Materials and methods: The material for the study was DNA samples of gastric cancer patients and healthy donors living in the RB. Genomic DNA was isolated from peripheral blood lymphocytes by phenol-chloroform extraction. Amplifica-tion was performed using specific primers flanking the studied exon. The study of exons for the presence of changes in the nucleotide sequence was carried out using the SSCP and HRM methods. To verify molecular genetic changes, the Sanger sequencing method was used. Results: The genetic variant rs35741240 (c.1680G>C, p.Thr560=) was found in the 11th exon of the CDH1 gene. Four patients (1.33%) were found to be heterozygous C allele carriers among patients; the incidence of GC genotype among healthy individuals was 0.67% (2 patients). A rare polymorphic locus rs33969373 (c.1896C>T, p.His571=) was also found in the 12th exon of the CDH1 gene. The vari-ant was also detected in the heterozygous state, the frequency of the CT genotype in the group of patients was 1.00% (3 patients), among the control – 0.33% (1 patients). In exon 14 of the CDH1 gene, a synonymous polymorphic locus rs33964119 (c.2253C>T, p.Asn751=) was found. It was shown that this variant in the heterozygous state occurs in 24 patients (8.00%), and among healthy individuals the frequency of the CT genotype was 5.33% (16 patients). Pairwise comparison of the frequencies of alleles and genotypes of the identified loci between the groups of patients and con-trols revealed no statistically significant differences (p>0.05). Conclusion: As a result of the study, we found previously known changes in the nucleotide sequence in exons 11, 12 and 14 of the CDH1 gene (rs35741240, rs33969373 and rs33964119). None of the identified changes is patho-genic.","PeriodicalId":20921,"journal":{"name":"RESEARCH RESULTS IN BIOMEDICINE","volume":"10 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81698362","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Analysis of heart rate variability in medical students with different types of hemodynamics and body mass index values","authors":"V. Belyayeva","doi":"10.18413/2658-6533-2023-9-1-0-7","DOIUrl":"https://doi.org/10.18413/2658-6533-2023-9-1-0-7","url":null,"abstract":"","PeriodicalId":20921,"journal":{"name":"RESEARCH RESULTS IN BIOMEDICINE","volume":"112 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77840584","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The state of microcirculation in pregnant women with hypertensive disorders in the third trimester of pregnancy","authors":"","doi":"10.18413/2658-6533-2023-9-1-0-8","DOIUrl":"https://doi.org/10.18413/2658-6533-2023-9-1-0-8","url":null,"abstract":"","PeriodicalId":20921,"journal":{"name":"RESEARCH RESULTS IN BIOMEDICINE","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76808200","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Atrial fibrillation and its geriatric aspects: news of the last 5 years (review)","authors":"","doi":"10.18413/2658-6533-2023-9-1-0-6","DOIUrl":"https://doi.org/10.18413/2658-6533-2023-9-1-0-6","url":null,"abstract":"","PeriodicalId":20921,"journal":{"name":"RESEARCH RESULTS IN BIOMEDICINE","volume":"160 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76022674","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Geriatric management tactics for patients with diabetic retinopathy","authors":"","doi":"10.18413/2658-6533-2023-9-1-0-9","DOIUrl":"https://doi.org/10.18413/2658-6533-2023-9-1-0-9","url":null,"abstract":"","PeriodicalId":20921,"journal":{"name":"RESEARCH RESULTS IN BIOMEDICINE","volume":"42 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86510137","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Polymorphic loci of AC026703.1 and HFE genes are associated with severe hypertension","authors":"T. Ivanova","doi":"10.18413/2658-6533-2023-9-1-0-2","DOIUrl":"https://doi.org/10.18413/2658-6533-2023-9-1-0-2","url":null,"abstract":"Hypertension (HT) is characterized by high blood pressure (BP) and is one of the most common diseases in the world. At the moment, there is information in the literature about 1.5 thousand single-nucleotide polymorphic loci (SNP) associated with HP and BP according to genome – wide studies (GWAS). At the same time, replicative studies of GWAS significant genes in various populations, including Russian ones, are necessary. The aim of the study:To study the relationship of GWAS-significant polymorphic loci for HP with the stages of the disease. Materials and methods: For this study, two samples of patients with HT were formed: patients with stages 1-2 (n=384) and patients with stage 3 HT (n=555), and a control group of 466 people. For the experimental study, ten polymorphic loci of candidate genes associated with the development of HT were selected according to the data of GWAS conducted earlier. Associations were studied by the logistic regression method with a pperm level <0.05. Results: The association of two GWAS significant candidate genes AC026703.1 (rs1173771) and HFE (rs1799945) with the risk of severe HT formation (stage 3 of the disease) was revealed. Allelic variant A rs1173771 (G/A) AC026703.1 has a protective value for the severe course of the disease (ORdom=0.63 and 95%CIdom 0.41-0.98 pperm=0.048). The minor genotype GG rs1799945 (C/G) HFE significantly (more than 3 times) increases the risk of developing stage 3 HT (ORrec=3.25 and 95%CIrec 1.25-8.42 pperm=0.017). Associations of GWAS significant of polymorphic loci for HT with the development of stages 1-2 of the disease have not been established. Conclusion: Polymorphisms rs1799945 of the HFE gene (OR=3.25) and rs1173771 of the AC026703.1 gene (OR=0.63) are associated with the risk of developing stage 3 HT","PeriodicalId":20921,"journal":{"name":"RESEARCH RESULTS IN BIOMEDICINE","volume":"70 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73868435","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}