Fundamental and Clinical Medicine最新文献_第9页

Cytogenetic techniques in current biomedical research. Part II: chromosomal rearrangements 当前生物医学研究中的细胞遗传学技术。第二部分:染色体重排

Fundamental and Clinical Medicine Pub Date : 2022-03-31 DOI: 10.23946/2500-0764-2022-7-1-102-112

A. Volkov, O. I. Rytenkova

{"title":"Cytogenetic techniques in current biomedical research. Part II: chromosomal rearrangements","authors":"A. Volkov, O. I. Rytenkova","doi":"10.23946/2500-0764-2022-7-1-102-112","DOIUrl":"https://doi.org/10.23946/2500-0764-2022-7-1-102-112","url":null,"abstract":"Mutations represent a natural mechanism for adaptation of species to changing environmental conditions. Chromosomal rearrangements play a pivotal role in the evolution, as evidenced by the comparison of human and non-human primate karyotypes, and have diverse clinical consequences. In most cases chromosomal aberrations are compatible with life, yet their carriers might show a variety of mental and physiological abnormalities and malformations. Albeit chromosomal rearrangements often do not affect the health and reproductive ability, offspring of their carriers still have a high risk of inherited disorders. Most notably, chromosomal aberrations strongly correlate with cancer risk. When unbalanced, chromosomal abnormalities are associated with reduced life expectancy and reproductive potential. In this lecture, we analyse the mechanisms of chromosomal aberrations, review their diversity, and describe significant clinical consequences such as inherited syndromes which are illustrated with images of patients' karyotypes. The lecture is primarily aimed at biomedical students, researchers and physicians who often have an unmet need to analyse and interpret the results of cytogenetic analyses.","PeriodicalId":12493,"journal":{"name":"Fundamental and Clinical Medicine","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81961145","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}

引用次数: 0

4-1BB/4-1BBL signaling pathway in patients with influenza A (H1N1) virus-associated pneumonia 甲型H1N1流感病毒相关性肺炎患者的4-1BB/4-1BBL信号通路

Fundamental and Clinical Medicine Pub Date : 2022-03-31 DOI: 10.23946/2500-0764-2022-7-1-64-69

A. Malyarchikov, K. G. Shаpovаlov

{"title":"4-1BB/4-1BBL signaling pathway in patients with influenza A (H1N1) virus-associated pneumonia","authors":"A. Malyarchikov, K. G. Shаpovаlov","doi":"10.23946/2500-0764-2022-7-1-64-69","DOIUrl":"https://doi.org/10.23946/2500-0764-2022-7-1-64-69","url":null,"abstract":"Aim. To evaluate the activity of the 4-1BB/4-1BBL signaling pathway in patients with influenza A (H1N1) virus-associated pneumonia.Materials and Methods. Here we enrolled 85 patients (41 males and 44 females, median age 48 (36-62) years) with influenza A (H1N1) virus-associated pneumonia. Among the exclusion criteria were unstable hemodynamics, BMI > 30, diabetes mellitus, HIV, tuberculosis, and cancer. Control group consisted of 15 healthy donors. The diagnosis of influenza A / H1N1 was confirmed by a positive PCR test. Pneumonia was diagnosed according to the Federal Clinical Guidelines «Community-acquired pneumonia in adults». Severity of pneumonia was evaluated by using CURB-65 and SMART-COP scales as well as IDSA/ATS criteria. Plasma concentration of 4-1BB (CD137 or TNFRSF9, an inducible costimulatory receptor expressed on activated T cells and antigen-presenting cells) was determined by flow cytometry.Results. Patients with moderate and severe influenza A (H1N1) virus-associated pneumonia had 1.5- and 2.4 fold-increased concentration of plasma 4-1ВВ as compared with the healthy controls.Conclusion. The 4-1BB/4-1BBL signaling pathway, involved in multiple immune reactions, is associated with the severity of influenza A (H1N1) virus-associated pneumonia.","PeriodicalId":12493,"journal":{"name":"Fundamental and Clinical Medicine","volume":"3 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73161244","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}

引用次数: 1

Pelvic floor dysfunction in women: current understanding of the problem 女性盆底功能障碍:目前对该问题的理解

Fundamental and Clinical Medicine Pub Date : 2022-03-31 DOI: 10.23946/2500-0764-2022-7-1-92-101

O. V. Remneva, Irina S. Ivanyuk, Anzhelika I. GAL'CHENKO

{"title":"Pelvic floor dysfunction in women: current understanding of the problem","authors":"O. V. Remneva, Irina S. Ivanyuk, Anzhelika I. GAL'CHENKO","doi":"10.23946/2500-0764-2022-7-1-92-101","DOIUrl":"https://doi.org/10.23946/2500-0764-2022-7-1-92-101","url":null,"abstract":"Here we review the recent literature on pelvic floor dysfunction, which is increasingly common in women of reproductive age and represents a significant medical problem occurring as a result of injured pelvic floor ligaments. Pelvic floor dysfunction is largely associated with vaginal delivery and might lead to urinary and fecal incontinence as well as pelvic organ prolapse. Intraabdominal hypertension, nerve damage, obesity, and genetic predisposition are among the major contributors to pelvic floor dysfunction. Being asymptomatic at the early stage, pelvic floor dysfunction gradually leads to the irreversible alterations in pelvic floor anatomy, ultimately deteriorating quality of life. Surgery remains a gold standard in the treatment of pelvic organ prolapse, yet POP-Q stage I-II prolapse should be treated conservatively. Currently, there are no specific treatment regimens and no evidence-based opinion regarding Kegel exercises and laser therapy. Biofeedback pelvic floor muscle training is the treatment of choice for urinary incontinence. Use of pessaries represents another efficient approach to conservative treatment.","PeriodicalId":12493,"journal":{"name":"Fundamental and Clinical Medicine","volume":"19 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78453380","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}

引用次数: 2

Factors associated with late HIV diagnosis 与HIV晚期诊断相关的因素

Fundamental and Clinical Medicine Pub Date : 2022-03-30 DOI: 10.23946/2500-0764-2022-7-1-31-41

Gulshat R. Khasanova, S. Agliullina, G. R. Gilmutdinova, F. Nagimova

{"title":"Factors associated with late HIV diagnosis","authors":"Gulshat R. Khasanova, S. Agliullina, G. R. Gilmutdinova, F. Nagimova","doi":"10.23946/2500-0764-2022-7-1-31-41","DOIUrl":"https://doi.org/10.23946/2500-0764-2022-7-1-31-41","url":null,"abstract":"Aim. To assess the frequency of late HIV diagnosis among newly diagnosed HIV cases in 2019 and to determine associated risk factors.Materials and Methods. The study included data from 1073 adult patients who lived in the Tatarstan Republic and were first diagnosed with HIV infection in 2019. Criteria for late HIV diagnosis were the presence of stage 4 HIV-infection (AIDS) and/or < 200 CD4+ cells per mm3 at the time of diagnosis. The influence of various factors on the timeliness of diagnosis was carried out using binary logistic regression and adjusted odds ratios (aOR) with 95% confidence intervals (95% CI).Results. Late diagnosis was documented in 37.7% of HIV infection cases. Clinical examination was associated with late diagnosis in comparison with a preventive examination (aOR = 2.06; 95% CI = 1.40–3.02). The age of ≥ 50 years was associated with late diagnosis in comparison with 30−49 years age range (aOR = 2.18; 95% CI = 1.41–3.37). Vice versa, the age of < 30 years was associated with timely diagnosis as compared to 30−49 years age range (aOR 0.44; 95% CI = 0.30–0.68). Living in urban areas has been associated with late HIV diagnosis (aOR = 1.470; 95% CI = 1.002–2.153) in comparison with living in rural areas.Conclusion. The factors associated with the late HIV diagnosis were examination for clinical indications, age ≥ 50 years, and living in urban areas. For curbing the HIV epidemic, it is necessary to expand the HIV screening to all population groups, especially elderly.","PeriodicalId":12493,"journal":{"name":"Fundamental and Clinical Medicine","volume":"17 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-03-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81660826","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}

引用次数: 0

Molecular markers of cardiac fibrosis after myocardial infarction 心肌梗死后心肌纤维化的分子标记

Fundamental and Clinical Medicine Pub Date : 2022-03-30 DOI: 10.23946/2500-0764-2022-7-1-17-30

O. Barbarash, A. Kutikhin, T. Pecherina, R. Tarasov, V. Kashtalap, N. Fedorova, L. Bogdanov, O. Hryachkova, D. Sedykh

{"title":"Molecular markers of cardiac fibrosis after myocardial infarction","authors":"O. Barbarash, A. Kutikhin, T. Pecherina, R. Tarasov, V. Kashtalap, N. Fedorova, L. Bogdanov, O. Hryachkova, D. Sedykh","doi":"10.23946/2500-0764-2022-7-1-17-30","DOIUrl":"https://doi.org/10.23946/2500-0764-2022-7-1-17-30","url":null,"abstract":"Aim. To perform a screening for molecular markers of cardiac fibrosis upon myocardial infarction.Materials and Methods. We carried out echocardiography-guided endomyocardial biopsy of affected and intact interventricular septum segments of 7 patients with anterior myocardial infarction. Fibrotic and adjacent intact cardiac tissue was dissected into 2 equal segments and: 1) homogenized with the further RNA extraction, reverse transcription, and quantitative polymerase chain reaction; 2) fixed in formalin and embedded into paraffin with the further van Gieson staining for the histological verification of cardiac fibrosis.Results. We found that the expression of ACTA2, VIM, CTGF, COL1A1, TGFB1, TGFBR1, AGTR1, CCL2 and TNF genes in fibrotic cardiac tissue was ≥ 3-fold higher as compared with the adjacent intact myocardium reflective of active extracellular matrix production by fibroblast-derived myofibroblasts.Conclusion. We have for the first time shown AGTR1, CCL2, and TNF genes as candidates for post-infarction cardiac fibrosis in addition to ACTA2, VIM, CTGF, COL1A1, TGFB1, and TGFBR1 genes.","PeriodicalId":12493,"journal":{"name":"Fundamental and Clinical Medicine","volume":"9 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-03-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83295402","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}

引用次数: 0

Dyslipidemia and risk of prostate canсer in patients with urologic diseases 泌尿系统疾病患者血脂异常与前列腺癌的风险

Fundamental and Clinical Medicine Pub Date : 2022-03-30 DOI: 10.23946/2500-0764-2022-7-1-42-52

A. Smirnov, O. Gruzdeva, E. Pomeshkin, A. I. Bragin-Maltsev

引用次数: 1

Rubidium intake in the adult population of the Omsk region 鄂木斯克地区成人的铷摄入量

Fundamental and Clinical Medicine Pub Date : 2022-03-30 DOI: 10.23946/2500-0764-2022-7-1-8-16

A. V. Brusentsova, D. V. Turchaninov, I. Sokhoshko, V. A. Shirinskiy

{"title":"Rubidium intake in the adult population of the Omsk region","authors":"A. V. Brusentsova, D. V. Turchaninov, I. Sokhoshko, V. A. Shirinskiy","doi":"10.23946/2500-0764-2022-7-1-8-16","DOIUrl":"https://doi.org/10.23946/2500-0764-2022-7-1-8-16","url":null,"abstract":"Aim. To assess the nutritional consumption of rubidium in the adult population of the Omsk Region.Materials and Methods. Here we performed a cross-sectional study which included 421 individuals (177 men and 244 women) aged 18 to 83 years (median age 37 (23; 57) years). Rubidium consumption was determined by analysing the frequency of food intake and chemical composition of food consumed by the population of the Omsk Region.Results. Median daily rubidium intake was 1.1 mg/day (0.81; 1.48) that sufficiently exceeds minimum recommended dose (0.1 mg/day). We defined the reference range of rubidium intake as 1.1 (0.71 – 1.71) mg/day. Rubidium consumption tended to increase along with the population age, albeit no significant differences have been found between different age groups as well as between men and women. The most abundant rubidium sources were vegetables (55.6%) and beverages (29.6%). Among vegetables, the main sources of rubidium were onion (31.7%) and fresh tomatoes (20.7%), while tea was responsible for the majority (84.6%) of rubidium consumed from beverages. The proportion of vegetable-derived rubidium increased with age, in contrast to beverage-derived rubidium which demonstrated an opposite trend.Conclusion. The reference range of rubidium intake in the Omsk Region is 1.1 (0.71 – 1.71) mg/day. Rubidium intake does not depend on age and gender. The main sources of rubidium are vegetables and beverages.","PeriodicalId":12493,"journal":{"name":"Fundamental and Clinical Medicine","volume":"81 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-03-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72961642","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}

引用次数: 0

Сytogenetic techniques in current biomedical research. part i: history and theoretical basis of human cytogenetics Сytogenetic当前生物医学研究中的技术。第一部分:人类细胞遗传学的历史和理论基础

Fundamental and Clinical Medicine Pub Date : 2021-12-28 DOI: 10.23946/2500-0764-2021-6-4-142-150

A. Volkov, L. V. Nacheva

{"title":"Сytogenetic techniques in current biomedical research. part i: history and theoretical basis of human cytogenetics","authors":"A. Volkov, L. V. Nacheva","doi":"10.23946/2500-0764-2021-6-4-142-150","DOIUrl":"https://doi.org/10.23946/2500-0764-2021-6-4-142-150","url":null,"abstract":"Cytogenetics is an essential part of human genetics which studies the structure of chromosomes and their collection which is called karyotype. Cytogenetic techniques are employed while interrogating DNA organisation and compaction. Analysis of the chromosomal structure contributes to uncovering the molecular basis of various cellular processes in normal and pathological conditions. Furthermore, spectrum and frequency of chromosome abnormalities serves as an indicator of mutagenic effects. Cytogenetic techniques became indispensable for discovering the genetic causes of human diseases at different stages of ontogenesis. Genetic abnormalities are a common cause of impaired reproductive function, abnormal pregnancy, and neonatal malformations. Genetic screening for chromosomal abnormalities and congenital anomalies is a powerful tool for reducing the genetic load in human populations as well as disease, psychological and social burden on families and societies. This paper begins the cycle of lectures on molecular basis of human cytogenetics, cytogenetic techniques, and the corresponding research and clinical applications. The lecture is primarily aimed at biomedical students and physicians who often have an unmet need to analyse and interpret the results of cytogenetic analyses.","PeriodicalId":12493,"journal":{"name":"Fundamental and Clinical Medicine","volume":"42 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-12-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75579157","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}

引用次数: 0

Galectin-1 and Galectin-3 expression in colon cancer and its correlation with tumor invasion, differentiation, and metastatic spread 半乳糖凝集素-1和半乳糖凝集素-3在结肠癌中的表达及其与肿瘤侵袭、分化和转移扩散的关系

Fundamental and Clinical Medicine Pub Date : 2021-12-28 DOI: 10.23946/2500-0764-2021-6-4-45-53

Y. Kolobovnikova, O. Urazova, V. Poletika, G. V. Reyngardt, E. Romanova, A. V. Kurnosenko, A. Dmitrieva, K. Yankovich, M. Y. Grishchenko

{"title":"Galectin-1 and Galectin-3 expression in colon cancer and its correlation with tumor invasion, differentiation, and metastatic spread","authors":"Y. Kolobovnikova, O. Urazova, V. Poletika, G. V. Reyngardt, E. Romanova, A. V. Kurnosenko, A. Dmitrieva, K. Yankovich, M. Y. Grishchenko","doi":"10.23946/2500-0764-2021-6-4-45-53","DOIUrl":"https://doi.org/10.23946/2500-0764-2021-6-4-45-53","url":null,"abstract":"Aim. To study the expression of galectin-1 and galectin-3 in colon cancer and the levels of these proteins in the peripheral blood in relation to the differentiation, invasion, and metastatic dissemination.Materials and Methods. We examined primary tumors and the corresponding peripheral blood samples from 81 patients with colon cancer. Control group consisted of 49 patients with colon adenoma and 17 healthy volunteers. Expression of galectin-1 and galectin-3 in colon tissue was determined by immunohistochemical staining, while their plasma level was measured by enzyme-linked immunosorbent assay. Tumor staging was performed in accordance with the TNM system (AJCC, 2009). Cell differentiation was defined according to the respective clinical guidelines (Russian Cancer Association, 2018).Results. We detected an elevated expression of galectin-1 and galectin-3 in primary colon cancer as compared with colon adenoma and higher plasma levels of these proteins in colon cancer patients in comparison with healthy volunteers. High expression of tumor and plasma galectin-1 was associated with higher tumor stage (T3/T4) and the presence of local and distant metastases. Overexpression of galectin-3 in the primary tumor correlated with lower differentiation and lymph node metastasis.Conclusion. Galectin-1 and galectin-3 are involved in colon cancer progression and might be used as predictors of an adverse outcome.","PeriodicalId":12493,"journal":{"name":"Fundamental and Clinical Medicine","volume":"340 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-12-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79418634","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}

引用次数: 0

Epidemiology of Streptococcus pneumoniae serotypes in children before and after pneumococcal vaccination 儿童肺炎链球菌接种前后血清型的流行病学研究

Fundamental and Clinical Medicine Pub Date : 2021-12-28 DOI: 10.23946/2500-0764-2021-6-4-54-66

I. Protasova, S. Sidorenko, I. V. Feldblum, N. V. Bakhareva

{"title":"Epidemiology of Streptococcus pneumoniae serotypes in children before and after pneumococcal vaccination","authors":"I. Protasova, S. Sidorenko, I. V. Feldblum, N. V. Bakhareva","doi":"10.23946/2500-0764-2021-6-4-54-66","DOIUrl":"https://doi.org/10.23946/2500-0764-2021-6-4-54-66","url":null,"abstract":"Aim. To investigate how the pneumococcal vaccination affects the distribution of Streptococcus pneumoniae serotypes.Materials and Methods. In 2011-2019, 1,852 healthy children (1,354 aged ≤ 5 years and 480 aged from 6 to 17 years) were examined for the nasopharyngeal pneumococcal carriage. Of them, 539 children were tested before the start of pneumococcal vaccination (2011-2014), while 1,313 were tested during the vaccine campaign (2015-2019). Pneumococcal strains were serotyped using multiplex polymerase chain reaction.Results. Streptococcus pneumoniae serotype distribution considerably differed between children ≤ 5 and 6-17 years of age. Serotypes 23F, 19F, 19A, 6AB, and 15BC were prevalent in children ≤ 5 years of age while the older children were characterised by a high prevalence of capsular serotypes (3 and 33AF/37), serogroup 9 (9AV and 9LN), non-typeable streptococci, as well as 19F, 6AB and 6CD serotypes. Vaccination was associated with a significantly decreased prevalence of Streptococcus pneumoniae carriage (from 41.5% to 19.2%) among children ≤ 5 years of age, while this reduction was less pronounced (from 13.5 to 9.0%) in older children. Vaccination led to the shift in the distribution of pneumococcal serotypes towards an increased prevalence of non-vaccine serotypes that was particularly prominent in children ≤ 5 years of age. In particular, vaccination reduced the prevalence of 23F and 19A pneumococcal serotypes but heightened prevalence of 11AD serotype and to the appearance of previously undetected serotypes such as 8, 10A, 17F, 22F, 24ABF, 34, and 39.Conclusion. Pneumococcal vaccination decreased prevalence of pneumococcal carriage, yet causing a serotype replacement effect requiring improved microbiological monitoring in children of all age groups.","PeriodicalId":12493,"journal":{"name":"Fundamental and Clinical Medicine","volume":"3 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-12-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74090375","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}

引用次数: 1