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Study of associations of candidate genes differentially expressed in the placenta with the development of placental insufficiency with fetal growth restriction 胎盘中候选基因差异表达与胎盘功能不全及胎儿生长受限的关系研究
Pub Date : 2022-09-20 DOI: 10.18413/2658-6533-2020-6-3-0-5
E. Reshetnikov
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引用次数: 5
Clinical and psychological analysis of emotional and personality disorders in patients with long-term consequences of craniocerebral trauma complicated and uncomplicated by alcoholism 酒精中毒合并和不合并颅脑外伤患者长期后果的情绪和人格障碍的临床和心理分析
Pub Date : 2022-09-20 DOI: 10.18413/2658-6533-2020-6-3-0-11
V. Sergeev, Polina V. Sergeeva, Anastasiya A. Patrakova
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引用次数: 0
Studies to elucidate the effect and antiapoptotic mechanism of 2-ethyl-3-hydroxy-6- methylpyridine-n-acetyltaurinate in a rat model of retinal ischemia–reperfusion 2-乙基-3-羟基-6-甲基吡啶-n-乙酰牛磺酸盐在大鼠视网膜缺血再灌注模型中的作用及其抗凋亡机制的研究
Pub Date : 2022-09-19 DOI: 10.18413/2658-6533-2022-8-3-0-5
Background: The study of possible ways of effective correction of retinal ischemia-reperfusion injury, which accompanies a number of eye diseases, is relevant today. The aim of the study: To study the retinoprotective effect and antiapoptotic mechanism of 2-Ethyl-3-hydroxy-6-methyl-pyridine-N-acetyltaurinate (EHMP-NAT) in a rat model of retinal ischemia–reperfusion (I/R). Materials and methods: A pathology model with an increase in intraocular pressure (IOP) to 110 mmHg was used. The retinoprotective effect of EHMP-NAT at a dose of 4.4 mg/kg/day, in comparison with emoxipine and taurine in equimolar doses, was estimated by the changes in the retinal microcirculation, electroretinograms (the b/a coefficient), and retinal caspase-3, NF-κB p65, p53 gene expressions in Wistar rats. Results: The use of EHMP-NAT led to an increase in the retinal microcirculation level to 756.5 (median) perfusion units in comparison with emoxipine (p = 0.045) and taurine (p = 0.00029). The b/a coefficient increased in comparison with the group with emoxipine (p = 0.0099) and with the group with taurine (p = 0.015). In the group with EHMP-NAT, the caspase-3 gene expression decreased reliably in comparison with emoxipine (p = 0.0002) and with taurine (p = 0.0028); the NF-κB p65 gene expression decreased in comparison with emoxipine (p = 0.0009) and with taurine (p = 0.0022); the p 53 gene expression decreased in comparison with emoxipine (p = 0.0022) and with taurine (p = 0.0009). Conclusion: Based on the data obtained, in correction of retinal I/R by EHMP-NAT, improvements in the retinal microcirculation, functional state, and caspase-3, NF-κB p65, p53 gene expressions were more pronounced than in monotherapy with emoxipine or taurine.
背景:视网膜缺血-再灌注损伤伴发多种眼病,研究有效矫正视网膜缺血-再灌注损伤的可能方法具有重要的现实意义。目的:研究2-乙基-3-羟基-6-甲基吡啶- n -乙酰牛磺酸盐(EHMP-NAT)对大鼠视网膜缺血再灌注(I/R)模型的视网膜保护作用及抗凋亡机制。材料与方法:采用眼内压升高至110 mmHg的病理模型。通过观察Wistar大鼠视网膜微循环、视网膜电图(b/a系数)和视网膜caspase-3、NF-κB p65、p53基因表达的变化,评估4.4 mg/kg/d剂量下EHMP-NAT与等摩尔剂量的莫西平、牛磺酸相比的视网膜保护作用。结果:与莫西平(p = 0.045)和牛磺酸(p = 0.00029)相比,使用EHMP-NAT可使视网膜微循环水平增加至756.5(中位)灌注单位。b/a系数高于莫西平组(p = 0.0099)和牛磺酸组(p = 0.015)。在EHMP-NAT组,与莫西平(p = 0.0002)和牛磺酸(p = 0.0028)相比,caspase-3基因表达可靠地下降;与莫西平(p = 0.0009)和牛磺酸(p = 0.0022)比较,NF-κB p65基因表达降低;与莫西平(p = 0.0022)和牛磺酸(p = 0.0009)相比,p53基因表达降低。结论:根据所获得的数据,EHMP-NAT矫正视网膜I/R时,视网膜微循环、功能状态及caspase-3、NF-κB p65、p53基因表达的改善比单纯使用莫西平或牛磺酸治疗更明显。
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引用次数: 1
Genetic variation of ERN1 and susceptibility to type 2 diabetes ERN1基因变异与2型糖尿病易感性
Pub Date : 2022-09-19 DOI: 10.18413/2658-6533-2022-8-3-0-1
E. Klyosova
Background: The endoribonuclease IRE1 (ERN1) is an important sensor for the endoplasmic reticulum unfolded protein response (UPR), and its activation happens as a result of the accumulation of unfolded and misfolded proteins in the endoplasmic reticulum (ER). The ERN1 gene may be involved in ER stress, a feature of type 2 diabetes (T2D). The aim of the study: To investigate the relationship between common single nucleotide polymorphisms (SNPs) of the ERN1 gene and T2D risk. Materials and methods: The study included 1558 T2D patients (586 males and 972 females) and 1611 (618 males and 993 females) healthy subjects. Two common SNPs, such as rs196914 and rs9911085 located in the regulatory region of the ERN1 gene, were genotyped by the MassArray Analyzer-4 system. Results: Genotypes T/C-C/C rs196914 showed an association with an increased risk of T2D (OR=1.18, 95% CI 1.03-1.36, p=0.017). An associative analysis stratified by sex and BMI revealed that this association occurred in females with a BMI greater than 25 kg/m2 (OR = 1.20, 95% CI 1.03- 1.40, p = 0.02). Furthermore, the genotypes rs9911085 T/C-C/C were linked to T2D risk in females with a BMI greater than 30 kg/m2 (OR = 1.44, 95% CI 1.02-1.95, p = 0.034). The haplotype rs196914C-rs9911085C was found to be associated (p=0.004) with T2D risk in overweight and obese subjects (i.e. BMI≥25 kg/m2). Conclusion: The present study was the first to show the impact of ERN1 gene polymorphisms on susceptibility to type 2 diabetes; however, the association was femaleand BMI-specific. Further studies are required to confirm the association between ERN1 and T2D risk.
背景:核糖核酸内切酶IRE1 (ERN1)是内质网未折叠蛋白反应(UPR)的重要传感器,其激活是内质网(ER)中未折叠和错误折叠蛋白积累的结果。ERN1基因可能参与内质网应激,这是2型糖尿病(T2D)的一个特征。研究目的:探讨ERN1基因的常见单核苷酸多态性(snp)与T2D风险之间的关系。材料与方法:纳入t2dm患者1558例(男性586例,女性972例)和健康受试者1611例(男性618例,女性993例)。利用MassArray Analyzer-4系统对位于ERN1基因调控区的两个常见snp rs196914和rs9911085进行基因分型。结果:基因型T/C-C/C rs196914与T2D风险增加相关(OR=1.18, 95% CI 1.03-1.36, p=0.017)。按性别和BMI分层的相关分析显示,这种关联发生在BMI大于25 kg/m2的女性中(OR = 1.20, 95% CI 1.03- 1.40, p = 0.02)。此外,基因型rs9911085 T/C-C/C与BMI大于30 kg/m2的女性的T2D风险相关(OR = 1.44, 95% CI 1.02-1.95, p = 0.034)。发现rs196914C-rs9911085C单倍型与超重和肥胖受试者(即BMI≥25 kg/m2)的T2D风险相关(p=0.004)。结论:本研究首次揭示了ERN1基因多态性对2型糖尿病易感性的影响;然而,这种关联是女性和bmi特异性的。需要进一步的研究来证实ERN1与T2D风险之间的关联。
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引用次数: 1
C9orf16 (BBLN) gene, encoding a member of Hero proteins, is a novel marker in ischemic stroke risk C9orf16 (BBLN)基因编码Hero蛋白成员,是缺血性卒中风险的新标志物
Pub Date : 2022-09-19 DOI: 10.18413/2658-6533-2022-8-3-0-2
Ksenia Kobzeva, Irina V. Shilenok, A. Belykh, Denis E. Gurtovoy, Lyubov A. Bobyleva, A. B. Krapiva, Tatiana A. Stetskaya, M. Bykanova, Anastasiya A. Mezhenskaya, E. Lysikova, M. Freidin, O. Bushueva
Background: Ischemic stroke (IS) is the leading cause of death and disability worldwide. Chaperone proteins protect brain cells from the ischemic damage by restoring the structures of damaged proteins. Chaperone C9orf16 (also known as BBLN) belongs to the class of heat-resistant obscure (HERO) proteins, characterized by the ability to stabilize various proteins, suppress neurotoxicity and reduce proteotoxic stress. In this regard, it may play a potentially significant role in the risk of development and clinical manifestations of IS. The aim of the study: To investigate an association between a single nucleotide polymorphism rs2900262 in the gene encoding C9orf16 and predisposition to IS. Materials and methods: A total of 897 patients with IS and 1140 healthy controls were recruited for the study. Genotyping was done using a probe-based genotyping assay. Multiple logistic regression analysis was performed to evaluate the associations of the rs2900262 genotypes with the risk of IS and ischemic events. Dominant, recessive and additive models of associations of genotypes were analyzed. Adjustment for sex, age, and smoking was done throughout. Benjamini-Hogberg false-discovery rate was used to correct for multiple comparisons. Results: The rs2900262*T allele was found to be associated with the increased risk of IS exclusively in females (dominant model: OR=1.74, 95% CI=1.07-2.82, PFDR=0.042; additive model: OR=1.69, 95% CI=1.06-2.71, PFDR=0.042). Additional analysis showed that the rs2900262*T is associated with the increased risk of IS in smokers only (dominant model: OR=1.92, 95% CI=1.09-3.37, PFDR=0.042; additive model: OR=1.79, 95%CI=1.04-3.08, PFDR=0.042). Also, we demonstrated that C/T-T/T genotype carriers exhibit an earlier manifestation of IS (59.53±1.12 years) compared to the C/C genotype carriers (61.63±0.4 years); mean difference=-1.98; 95% CI=-3.61 – -0.36; PFDR=0.026. Conclusion: This study is the first in the world to demonstrate the possible contribution of the rs2900262 C9orf16 gene polymorphism to the risk of ischemic stroke.
背景:缺血性脑卒中(IS)是世界范围内导致死亡和残疾的主要原因。伴侣蛋白通过修复受损蛋白的结构来保护脑细胞免受缺血性损伤。Chaperone C9orf16(也称为BBLN)属于耐热模糊(HERO)蛋白类,具有稳定多种蛋白、抑制神经毒性和减少蛋白毒性应激的能力。在这方面,它可能在IS的发展风险和临床表现中发挥潜在的重要作用。研究目的:探讨编码C9orf16基因的单核苷酸多态性rs2900262与IS易感性之间的关系。材料与方法:共招募897名IS患者和1140名健康对照者参与研究。采用基于探针的基因分型试验进行基因分型。采用多元logistic回归分析评估rs2900262基因型与IS和缺血性事件风险的相关性。分析了基因型关联的显性、隐性和加性模型。性别、年龄和吸烟的调整贯穿始终。本雅明-霍格伯格错误发现率用于校正多重比较。结果:rs2900262*T等位基因仅在女性中与IS风险增加相关(显性模型:OR=1.74, 95% CI=1.07-2.82, PFDR=0.042;加性模型:OR=1.69, 95% CI=1.06-2.71, PFDR=0.042)。进一步分析显示,rs2900262*T仅与吸烟者is风险增加相关(优势模型:OR=1.92, 95% CI=1.09-3.37, PFDR=0.042;加性模型:OR=1.79, 95%CI=1.04-3.08, PFDR=0.042)。此外,我们发现C/T-T/T基因型携带者比C/C基因型携带者(61.63±0.4年)更早表现出IS(59.53±1.12年);平均差= -1.98;95% ci =-3.61 - -0.36;PFDR = 0.026。结论:本研究在国际上首次证实rs2900262 C9orf16基因多态性可能与缺血性脑卒中风险有关。
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引用次数: 5
Abnormal uterine bleeding: etiology and pathogenesis (descriptive review) 子宫异常出血:病因及发病机制(描述性综述)
Pub Date : 2022-09-19 DOI: 10.18413/2658-6533-2022-8-3-0-8
Еlena V. Enkova, Еlena V. Kiseleva, O. V. Khoperskaya, Andrey V. Khatuncev, Inga D. Tyurina
{"title":"Abnormal uterine bleeding: etiology and pathogenesis (descriptive review)","authors":"Еlena V. Enkova, Еlena V. Kiseleva, O. V. Khoperskaya, Andrey V. Khatuncev, Inga D. Tyurina","doi":"10.18413/2658-6533-2022-8-3-0-8","DOIUrl":"https://doi.org/10.18413/2658-6533-2022-8-3-0-8","url":null,"abstract":"","PeriodicalId":20921,"journal":{"name":"RESEARCH RESULTS IN BIOMEDICINE","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79542408","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
Genetic markers of severe preeclampsia 重度先兆子痫的遗传标记
Pub Date : 2022-09-19 DOI: 10.18413/2658-6533-2022-8-3-0-4
M. Abramova
In modern medicine, close attention is paid to the issues of reducing maternal morbidity and mortality, to the structure of which hypertensive disorders of gestation, especially preeclampsia, make a significant contribution. The complex pathomorphological mechanisms underlying the etiopathogenesis of this pregnancy complication occur long before the manifestation of pronounced clinical signs, which complicates the early diagnosis of preeclampsia and determines the relevance of the search for new preeclampsia-specific markers, including genetic ones. The aim of the study: To evaluate the associations of polymorphic markers of GWAS-significant candidate genes of hypertension with the development of severe preeclampsia. Materials and methods: The sample of women with moderate preeclampsia included 145 individuals, and the sample of women with severe preeclampsia included 72 patients. All subjects underwent genotyping of four polymorphic loci (rs8068318 TBX2, rs2681472 ATP2B1, rs4387287 OBFC1, rs1799945 HFE). The empirical distribution of genotypes and its correspondence to the theoretically expected one within the framework of the Hardy-Weinberg regularity are studied. Logistic regression analysis was carried out and associations of polymorphic loci with the development of severe and moderate preeclampsia were studied according to four genetic models, with the introduction of corrections for covariates. Results: It was found that rs8068318 of the TBX2 gene is associated with the development of severe preeclampsia in the framework of allelic (OR = 0.45; рperm = 0.004), additive (OR = 0.46; рperm = 0.002), dominant (OR = 0.42; рperm = 0.005) and recessive (OR = 0.22; рperm = 0.04) genetic models. The polymorphic locus rs8068318 of the TBX2 gene is localized in the region of hypersensitivity to DNase, the region of DNA regulatory motifs to four transcription factors, the region of histone tags marking enhancers and promoters in various organs and tissues, negatively regulates the expression of the TBX2-AS1 gene in adipose tissue and brain, the TBX2 gene in the thyroid gland, and is associated with the level of alternative splicing of TBX2-AS1 and RP11-332H18.5 genes in various tissues. Conclusion: The rs8068318 polymorphic marker of the TBX2 gene is associated with the development of severe preeclampsia in the population of the Central Chernozem region of the Russian Federation.
在现代医学中,密切关注降低产妇发病率和死亡率的问题,其中妊娠期高血压疾病,特别是先兆子痫,对结构有重大贡献。这种妊娠并发症的发病机制复杂的病理形态学机制早在明显的临床症状出现之前就已经存在,这使得子痫前期的早期诊断变得复杂,并决定了寻找新的子痫前期特异性标志物的相关性,包括遗传标志物。本研究的目的:评估高血压gwas显著候选基因多态性标记与严重子痫前期发展的关系。材料与方法:中度子痫前期妇女145例,重度子痫前期妇女72例。所有受试者进行4个多态性位点(rs8068318 TBX2、rs2681472 ATP2B1、rs4387287 OBFC1、rs1799945 HFE)的基因分型。研究了基因型的经验分布及其在Hardy-Weinberg规则框架内与理论预期的对应关系。采用Logistic回归分析,根据四种遗传模型研究多态性位点与重度和中度先兆子痫的关系,并引入协变量校正。结果:TBX2基因rs8068318在等位基因框架内与重度先兆子痫的发生相关(OR = 0.45;0.004),添加剂(OR = 0.46;0.002),显性(OR = 0.42;(0.005)和隐性(OR = 0.22;(0.05)遗传模型。TBX2基因的多态性位点rs8068318定位于DNase超敏区、四种转录因子DNA调控基序区、各器官组织组蛋白标签标记增强子和启动子区域,负调控脂肪组织和脑中TBX2- as1基因、甲状腺中TBX2基因的表达,并与TBX2- as1和RP11-332H18.5基因在各组织中的选择性剪接水平有关。结论:TBX2基因rs8068318多态性标记与俄罗斯联邦中Chernozem地区人群重度先兆子痫的发生有关。
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引用次数: 5
Effect of melanocortin neuropeptides on the level of apoptotic and neurotrophic factors under «social» stress 黑素皮质素神经肽对“社会”压力下细胞凋亡和神经营养因子水平的影响
Pub Date : 2022-09-19 DOI: 10.18413/2658-6533-2022-8-3-0-10
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引用次数: 0
Correction of mitochondrial dysfunction with cinnamic acids in experimental hypercytokinemia 肉桂酸对实验性高细胞分裂血症患者线粒体功能障碍的纠正作用
Pub Date : 2022-09-19 DOI: 10.18413/2658-6533-2022-8-3-0-7
D. Pozdnyakov
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引用次数: 0
Features of postural balance in working women aged 60-69 60-69岁职业女性的体位平衡特征
Pub Date : 2022-09-19 DOI: 10.18413/2658-6533-2022-8-3-0-9
A. Dyomin, A. N. Ilnitski, Ksenia S. Korenevich
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引用次数: 2
期刊
RESEARCH RESULTS IN BIOMEDICINE
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