{"title":"Associations between glutamate cysteine ligase catalytic subunit gene polymorphisms and clinical characteristics of ischemic stroke","authors":"Yana V. Bocharova","doi":"10.24075/BRSMU.2021.007","DOIUrl":"https://doi.org/10.24075/BRSMU.2021.007","url":null,"abstract":"An imbalance between the production of reactive oxygen species and their neutralization lies at the core of oxidative stress implicated in ischemic stroke (IS) and the subsequent brain tissue damage. The aim of this study was to investigate the effects of common polymorphic variants of the glutamate cysteine ligase catalytic subunit gene on the extent of brain damage and clinical manifestations in patients with ischemic stroke. A total of 589 ischemic stroke survivors were genotyped for 6 single nucleotide polymorphisms (SNPs) of the GCLC gene, including rs12524494, rs17883901, rs606548, rs636933, rs648595 and rs761142, using a MassARRAY-4 analyzer. The study found that genotypes rs636933-G/A-A/A (р = 0.009) and rs761142-A/C-C/C (р = 0.015) were associated with an enlargement of the cerebral lesion size. Genotypes rs12524494-G/G (р = 0.05) and rs606548-T/T (р = 0.003) were associated with a risk of 2 or more IS episodes. Genotype rs17883901-G/A was associated with early onset of IS (р = 0.004). The study revealed multiple associations of GCLC SNPs with the clinical manifestations of ischemic stroke. Thus, GCLC polymorphisms are important DNA markers affecting the size of the cerebral lesion in patients with ischemic stroke and are associated with age at onset, the number of past strokes and the clinical manifestations of the disease.","PeriodicalId":259260,"journal":{"name":"Features of HIV and SARS-CoV-2 coinfection in a pandemic","volume":"14 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"133891072","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}
M. Postnikov, A. Gabrielyan, D. Trunin, O. Kaganov, VP Kirillova, A. Khamadeeva, OV Osokin, I. Kopetskiy, D. Eremin
{"title":"Refinement of noninvasive methods for diagnosing precancer and cancer of oral mucosa in general dental practice","authors":"M. Postnikov, A. Gabrielyan, D. Trunin, O. Kaganov, VP Kirillova, A. Khamadeeva, OV Osokin, I. Kopetskiy, D. Eremin","doi":"10.24075/BRSMU.2021.005","DOIUrl":"https://doi.org/10.24075/BRSMU.2021.005","url":null,"abstract":"The search for and the application of available noninvasive methods for early diagnosis of oral mucosa (OM) neoplasia is a clinically significant problem. The aim of this study was to evaluate the effectiveness of the original score-based algorithm for assessing clinical data generated by a conventional and an autofluorescencebased examination in diagnosing OM cancer and assessing indications for a biopsy. We analyzed 134 medical histories and pathology reports of patients with oral neoplasia. The patients were assigned to 2 groups: the control group included 63 patients who underwent a standard visual and tactile examination with history taking and then were referred for an incisional biopsy followed by a histopathological examination of the specimens. In the main group consisting of 71 patients, a standard visual and tactile examination was complemented by an autofluorescence-based examination and the original score-based algorithm with the original index of required histopathological verification (RHV) were used to assess indications for a biopsy. In both groups, the most commonly affected site was the tongue (72.4%). The histopathological examination revealed that 28 patients from the main group and 14 patients from the control group had OM cancer (р = 0.051). Histologically, early-stage cancer was diagnosed in 17 patients from the main group and in 4 patients from the control group (р = 0.004). The proposed algorithm allowed us to effectively (in 90% of cases) diagnose precancer and cancer and avoid unnecessary biopsies.","PeriodicalId":259260,"journal":{"name":"Features of HIV and SARS-CoV-2 coinfection in a pandemic","volume":"10 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"127081758","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":"Elemental composition of blood of infertile patients participating in assisted reproduction programs","authors":"A. Syrkasheva, V. Frankevich, N. Dolgushina","doi":"10.24075/BRSMU.2021.010","DOIUrl":"https://doi.org/10.24075/BRSMU.2021.010","url":null,"abstract":"The association between levels of trace elements, endocrine diseases and reproductive impairments is actively investigated currently. In this connection, it seems relevant to study elemental status (elemental composition of blood and amounts of elements therein) of infertile patients enlisted in programs employing assisted reproductive technologies (ART). This study aimed to analyze trace elements in blood of infertile patients, relationship between the level of such trace elements and parameters of the ART programs they are in. The study included 30 infertile patients aged 18–39 years. Relying on inductively coupled plasma mass spectrometry, we identified concentrations of 31 chemical element in blood of the participants. Two elements out of 31 (antimony and beryllium) were not found in any blood sample; 10 elements (titanium, chromium, cobalt, nickel, arsenic, mercury, barium, gold, vanadium) were detected in some blood samples, the remaining 19 elements were found in all samples. Age of the patients correlated negatively with the level of silicon (r = –0.384; p = 0.036) and positively with the level of molybdenum (r = 0.384; p = 0.036). The level of anti-mullerian hormone was in a significant negative correlation with the level of lithium (r = –0.367; p = 0.046). The level of free thyroxine was in a significant negative correlation with the level of boron (r = –0.402; p = 0.028) and a positively correlated with the levels of iron (r = 0.410; p = 0.024) and silver (r = 0.432; p = 0.017). Considering the embryological cycle, we noted a positive correlation between the level of silicon and the number of blastocysts obtained (r = 0.387; p = 0.034). There was no statistical relationship registered between elemental composition of blood the frequency of pregnancy in ART cycles.","PeriodicalId":259260,"journal":{"name":"Features of HIV and SARS-CoV-2 coinfection in a pandemic","volume":"10 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"124183836","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}
E. Novikova, EA Kudinova, VK Bozhenko, VA Solodkiy
{"title":"Characteristics of BRCA-associated breast cancer in the population of the Russian Federation","authors":"E. Novikova, EA Kudinova, VK Bozhenko, VA Solodkiy","doi":"10.24075/BRSMU.2021.006","DOIUrl":"https://doi.org/10.24075/BRSMU.2021.006","url":null,"abstract":"\"Standard\" diagnostic panels allow identification of only a few of BRCA1 and BRCA2 gene mutations most common in a population. Therefore, tests relying on such panels may return false negative results, since the coding regions of these genes may have other defects. For breast cancer (BC) patients, false negative test results may translate into selection of inadequate therapy by their doctors. This study aimed to identify the features of BRCA-associated breast cancer in the population of the Russian Federation. The study included breast cancer patients (n = 4440). At the first stage, all patients were screened for the eight most common BRCA1 and BRCA2 genes mutations with the help of real-time PCR. Next, patients that exhibited clinical signs of a hereditary disease (CSHD) in the absence of common mutations (n = 290) had the entire coding regions of BRCA1 and BRCA2 genes studied with next generation sequencing (NGS). \"Standard\" mutations in the BRCA1 and BRCA2 genes were identified in 169 (3.8%) cases. In the CSHD group, such mutations were revealed in 15.4% of cases. NGS uncovered 33 rare pathogenic BRCA1 and BRCA2 gene mutations in 40 out of 290 breast cancer patients (13.8%). It was concluded that among the residents of the Russian Federation, the range of pathogenic variants of BRCA-associated breast cancer is wide, and it stretches beyond the mutations considered by the \"standard\" diagnostic panels. Analysis of the entire coding regions of BRCA1 and BRCA2 genes allows increasing efficiency of detection of germline mutations in breast cancer patients at least twofold.","PeriodicalId":259260,"journal":{"name":"Features of HIV and SARS-CoV-2 coinfection in a pandemic","volume":"7 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"123977578","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 features of HIV and SARS-CoV-2-coinfection in a pandemic","authors":"A. Oleynik, C. Revathy, V. Fazylov","doi":"10.24075/BRSMU.2021.004","DOIUrl":"https://doi.org/10.24075/BRSMU.2021.004","url":null,"abstract":"COVID-19 is known to undertake a severe course in several groups of patients. The review presents the latest data on the main features of COVID-19 course in HIV patients. People living with HIV, have not been found to be at a higher risk for acquiring COVID-19 and the disease runs a similar course compared to the general population in HIV patients on continuous antiretroviral therapy (ART) with a suppressed viral load and CD4+-T-lymphocytes count > 200 cells/μl. Fewer than expected HIV patients have been reported to be hospitalised, this leads to hypothesize that infection may be majorly asymptomatic in this group of patients owing to their weak immune response. The patient’s use of ART might also explain the comparatively milder disease course of COVID-19 seen in patients with HIV/SARS-CoV-2 coinfection. While ART use cannot be considered to be a protective factor against contracting the SARS-CoV-2, researchers assume that the therapy could stabilize the immune response in coinfected patients and thus prevent progression of the disease to the severe forms.","PeriodicalId":259260,"journal":{"name":"Features of HIV and SARS-CoV-2 coinfection in a pandemic","volume":"53 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"127085501","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}
Y. Lebedin, O. Lyang, A. Galstyan, A. Panteleeva, V. Belousov, D. Rebrikov
{"title":"The importance of determining SARS-CoV-2 N-Ag serodiagnostics for the management of COVID-19 pneumonia in hospital settings","authors":"Y. Lebedin, O. Lyang, A. Galstyan, A. Panteleeva, V. Belousov, D. Rebrikov","doi":"10.24075/BRSMU.2021.009","DOIUrl":"https://doi.org/10.24075/BRSMU.2021.009","url":null,"abstract":"A new coronavirus infection caused by the SARS-CoV-2 virus, which appeared in December 2019, has claimed the lives of 2.5 million people in almost a year. The high contagiousness of this virus has led to its wide and rapid spread around the world. As of February 2021, the total number of cases is 111 million people; more than 4 million cases of SARS-CoV-2 infection have been registered in the Russian Federation. To successfully combat the emerging pandemic, it is necessary to quickly diagnose the disease at an early stage, which will prevent the further spread of this virus and prescribe the necessary treatment on time. The aim of the work was to evaluate the use of the SARS-CoV-2 nucleocapsid antigen (N-Ag) and respective antibodies as diagnostic markers in pneumonia patients. The study was conducted at the height of COVID-19 pandemic in Moscow, Russia. It included 425 emergency patients with clinical signs of COVID-19 pneumonia, of which 280 (66%) were positive for either serum N-Ag and/or its respective antibodies. We demonstrate the total prevalence of N-Ag seroconversion in SARS-CoV-2associated pneumonia patients within 3–5 days after hospital admission. The results indicate high feasibility of SARS-CoV-2 serodiagnostics in emergency patients.","PeriodicalId":259260,"journal":{"name":"Features of HIV and SARS-CoV-2 coinfection in a pandemic","volume":"71 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"122825271","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":"Bone turnover markers in patients with isolated femoral shaft fracture undergoing systemic ozone therapy","authors":"M. Osikov, E. Davydova, K. Abramov","doi":"10.24075/BRSMU.2021.003","DOIUrl":"https://doi.org/10.24075/BRSMU.2021.003","url":null,"abstract":"Efferent physical therapy holds promise as an adjunct to the combination treatment of femoral fractures in young, working-age individuals. The aim of the study was to investigate the dynamics of bone turnover markers at different stages of femoral fracture consolidation in patients undergoing ozone therapy. The study enrolled 20 men (group 2, 47.8 ± 3.5 years) with a femoral shaft fracture (AO/ASIF 32А, 32В). The control group (group 1, 46.8 ± 3.7 years) comprised 10 healthy males. Subgroup 2a (n = 10) was assigned to receive standard therapy; subgroup 2b (n = 10) was assigned to receive standard therapy complemented by minor autohemotherapy (MAHT) at 20 mg/L ozone concentrations. On days 7, 30 and 90, fracture consolidation was assessed on the RUST scale and blood levels of С-terminal telopeptides of type I collagen (bCTx, pg/ml) and procollagen type I carboxy-terminal propeptide (PICP, ng/ml) were measured. On day 7, the total RUST score in subgroups 2a and 2b was 4 points; on day 30, it was 6.5 and 8.7 points, respectively, and on day 90, it reached 10 and 11.5 points, respectively. Bone mineral density was as high as 90% in the MAHT subgroup vs. 78% in subgroup 2а, indicating faster bone healing. On day 30, bCTx levels in subgroup 2b were higher than in subgroup 2a (2289.4 [2145.3; 2365.4] vs. 1894.6 [1745.3; 2098.2], respectively. On day 7, PICP was significantly elevated in subgroup 2b in comparison with subgroup 2a; its levels peaked on days 30 and 90 (day 30: 268.3 [231.2; 286.3] vs. 183.2 [174.6; 195.6]; day 90: 584.6 [512.3; 589.3] vs. 351.2 [312.3; 369.4]. Thus, MAHT produces a positive effect on the quality and intensity of bone healing in men with isolated closed femoral shaft fractures.","PeriodicalId":259260,"journal":{"name":"Features of HIV and SARS-CoV-2 coinfection in a pandemic","volume":"17 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"127237367","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}
V. Nikishina, OF Prirodova, E. Petrash, IA Sevrukova
{"title":"Oculomotor response to images in primary school children with mild intellectual disability","authors":"V. Nikishina, OF Prirodova, E. Petrash, IA Sevrukova","doi":"10.24075/BRSMU.2021.008","DOIUrl":"https://doi.org/10.24075/BRSMU.2021.008","url":null,"abstract":"Oculomotor activity (eye movements) is an essential component of visual data acquisition, analysis and use. The aim of this study was to determine the characteristics of oculomotor response to static images in primary school children with mild intellectual disability (ID). Our sample included a total of 49 schoolers (23 children with mild ID and 26 typically developing children). Oculomotor activity was evaluated using a GP3 Gazepoint eye tracker. The participants were presented with 15 visual stimuli: 10 pictorial and 5 mixed (pictures + text) static color images. Children with mild ID generated significantly fewer fixations (р = 0.038) than typically developing children. So, learning materials containing both pictorial and textual images are ineffective because textual elements are completely ignored by children with mild ID. The total duration of gaze fixations was significantly longer (р = 0.029) in typically developing children than in children with mild ID. However, the average duration of a single gaze fixation was longer in children with mild ID. The identified features of oculomotor response can help to optimize the format of instructional materials for primary school children with mild ID.","PeriodicalId":259260,"journal":{"name":"Features of HIV and SARS-CoV-2 coinfection in a pandemic","volume":"990 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"116228869","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}
E. Mishina, M. Zatolokina, M. Mnikhovich, V. Kharchenko
{"title":"Morphofunctional characteristics of cutaneous connective tissue scars in women with past history of childbirth after cesarian delivery","authors":"E. Mishina, M. Zatolokina, M. Mnikhovich, V. Kharchenko","doi":"10.24075/BRSMU.2021.002","DOIUrl":"https://doi.org/10.24075/BRSMU.2021.002","url":null,"abstract":"The inevitable outcome of skin injuries caused by a variety of external factors is the formation of a connective tissue scar. A scar can deform when exposed to stretching, pressure or repeat surgeries and undergo structural changes leading to its dehiscence. Scar dehiscence is a common problem seen in women with a past history of cesarean delivery. There have been comprehensive studies of uterine scars formed after the C-section, but the morphology of cutaneous C-section scars has not yet been investigated. The aim of this study was to look into the morphology of connective tissue scars in multiparas with a past history of cesarean delivery. Specimens of cutaneous scars were collected from 30 women after the C-section. Within one age group, fiber thickness was directly proportional to the number of previous deliveries. Comparison of different age groups with the same number of previous deliveries revealed the thinning of collagen fibers and the increased density of type III collagen fibers. The most pronounced changes were observed in women with a history of 3 or more deliveries. We hypothesize that a connective tissue scar undergoes structural transformation, becomes thinner, and its fibers dissociate due to repeated skin stretching, which might indirectly suggest the dehiscence of the postoperative scar.","PeriodicalId":259260,"journal":{"name":"Features of HIV and SARS-CoV-2 coinfection in a pandemic","volume":"8 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"129871625","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 13 TP53 and WRAP53 polymorphism frequencies in russian populations","authors":"M. Olkova, V. Petrushenko, G. Ponomarev","doi":"10.24075/BRSMU.2021.001","DOIUrl":"https://doi.org/10.24075/BRSMU.2021.001","url":null,"abstract":"In the last decade the search for and annotation of human genome polymorphisms associated with phenotype have become particularly important concerning the opportunity of their use in medical and population genetics, pharmacogenomics and evolutionary biology. The study was aimed to calculate the frequencies and analyze the prevalence of 13 germline polymorphisms of two genes, ТР53 encoding the genome-keeper p53 protein and WRAP53 involved in regulation of p53 production, in 28 Russian populations. We obtained data on 9 exonic ТР53 variants (rs587781663, rs17882252, rs150293825, rs112431538, rs149633775, rs144340710, rs1042522, rs1800371, rs201753350), one intronic polymorphism (rs17881850), and three variants of WRAP53 (rs17880282, rs2287499, rs34067256). In the majority of populations the sample size was over 50 people (except five populations with 30–49 surveyed people). The alternative alleles’ population frequencies for studies genetic variants in most Russian populations were close to appropriate allele frequencies in European and Asian populations of similar origin taken from global databases. The exceptions were six populations (\"Central Caucasus\", \"Dagestan\", \"northern Russians\", \"southeastern Russians\", \"Tatars\" and \"Transcaucasia\") with increased alternative alleles’ population frequencies. All listed populations except the population of “southeastern Russians” are characterized by polymorphisms with high allele frequencies not satisfying the Hardy–Weinberg principle.","PeriodicalId":259260,"journal":{"name":"Features of HIV and SARS-CoV-2 coinfection in a pandemic","volume":"112 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"121741911","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}