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Genetically encoded light-inducible sensor for nucleolar visualization 用于核小体可视化的基因编码光诱导传感器
IF 0.2 Q4 MEDICINE, GENERAL & INTERNAL Pub Date : 2023-12-01 DOI: 10.24075/brsmu.2023.048
PA Zhurlova, ZV Besedovskaia, EL Sokolinskaya, LV Putlyaeva
Nucleolus plays a vital role in enhancing rRNA production and maintaining ribosome biogenesis in tumor cells, making the nucleolus a desirable target for genetic and oncological research. The most convenient method for nucleolus monitoring is fluorescent microscopy, combining high efficiency and accessibility. Nevertheless, currently available fluorescent visualization methods are unsuitable for live-cell monitoring of nucleolus because they require continuous labeling. To address this issue, we have developed a genetically encoded Light-Activated Nucleolus Sensing (LANS) system for real-time nucleolar visualization. The combination of eMags domains and reader domain of DPF3 protein, responsible respectively for the light-induced dimerization and targeting the nucleolus, allowed LANS system to efficiently target nucleolus in several cancer cell lines without affecting cell morphology. This system makes it possible to increase the representation of the LANS2 sample in the nucleolus by 1.5 times relative to the fluorescence intensity values obtained before irradiation of the nucleolus. LANS holds the potential to accelerate the search for new drugs and enhance the primary screening of drug compounds in in vivo models.
核仁在增强肿瘤细胞的 rRNA 生成和维持核糖体生物发生方面发挥着重要作用,因此核仁是遗传学和肿瘤学研究的理想靶点。荧光显微镜是监测核仁的最便捷方法,它兼具高效性和可及性。然而,目前可用的荧光可视化方法不适合活细胞核胶质细胞监测,因为它们需要连续标记。为了解决这个问题,我们开发了一种基因编码的光激活核仁传感(LANS)系统,用于实时核仁可视化。DPF3蛋白的eMags结构域和阅读器结构域分别负责光诱导的二聚化和靶向核小体,它们的结合使LANS系统能在不影响细胞形态的情况下有效地靶向几种癌细胞系中的核小体。与照射核仁前获得的荧光强度值相比,该系统可将 LANS2 样品在核仁中的代表性提高 1.5 倍。LANS 有可能加速寻找新药,并加强药物化合物在体内模型中的初筛。
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引用次数: 0
Prefrontal cortex transcranial theta-burst stimulation frequency-dependent effects on cognitive functions 前额叶皮层经颅θ-脉冲刺激频率对认知功能的影响
IF 0.2 Q4 MEDICINE, GENERAL & INTERNAL Pub Date : 2023-12-01 DOI: 10.24075/brsmu.2023.045
NA Suponeva, I. Bakulin, A. Poydasheva, D. Sinitsyn, AH Zabirova, D. Lagoda, M. Piradov
Theta-burst stimulation (TBS) is widely used due to induction of the long-lasting effects with short protocol duration. To reduce the variability of the effect, approaches to personalize it, such as using theta-gamma coupling frequencies (TGC), are being investigated. The study was aimed to develop the personalized protocol of navigated intermittent theta-burst stimulation (iTBS-ind) based on TGC, and to compare this protocol with the standard one (iTBS-5/50) and sham stimulation (iTBS-sham). The study involved 16 healthy volunteers (М — 7; 29.6 years), who were randomized to receive one session of each protocol of the left dorsolateral prefrontal cortex iTBS. The effects were estimated using the n-back test with simultaneous presentation of verbal and spatial stimuli (n = 2, 3), Digit Span test, Corsi blocks task, Tower of London test; testing was performed immediately before, immediately after and 60 min after stimulation. No severe adverse events were reported. Significant effect was obtained when performing assessment after 60 min for iTBS-5/50 in the n-back test with spatial stimuli (n = 3) (pcorr = 0.018), for all protocols in the Tower of London test (pcorr = 0.039 for iTBS-5/50, pcorr = 0.045 for iTBS-ind, pcorr = 0.003 for iTBS-sham). The iTBS-5/50 effect was significantly higher compared to iTBS-sham in the spatial n-back test (n = 3) (pcorr = 0.039), but lower compared to iTBS-ind and iTBS-sham in the Corsi blocks task (pcorr = 0.038 and 0.048, respectively). Thus, we failed to confirm the personalized protocol efficacy and superiority to the standard protocol and sham stimulation. Considering the effect of standard protocol, its further investigation can be promising.
θ-脉冲刺激(TBS)由于能在短时间内诱导出持久的效果而被广泛使用。为了减少效果的可变性,目前正在研究个性化的方法,如使用θ-γ耦合频率(TGC)。本研究旨在开发基于 TGC 的导航间歇θ-脉冲刺激个性化方案(iTBS-ind),并将该方案与标准方案(iTBS-5/50)和假刺激(iTBS-sham)进行比较。研究涉及 16 名健康志愿者(М - 7;29.6 岁),他们被随机分配接受一次左侧背外侧前额叶皮层 iTBS 方案。通过同时呈现言语和空间刺激的n-back测试(n = 2,3)、数字跨度测试、Corsi积木任务和伦敦塔测试来估计效果;测试在刺激前、刺激后和刺激后60分钟进行。无严重不良反应报告。iTBS-5/50 在空间刺激 n-back测试(n = 3)(pcorr = 0.018)和伦敦塔测试(iTBS-5/50 的 pcorr = 0.039,iTBS-ind 的 pcorr = 0.045,iTBS-sham 的 pcorr = 0.003)的所有方案中,60 分钟后进行评估均有显著效果。与 iTBS-sham 相比,iTBS-5/50 在空间 n-back(n = 3)测试中的效果显著更高(pcorr = 0.039),但与 iTBS-ind 和 iTBS-sham 相比,iTBS-5/50 在 Corsi 块任务中的效果较低(pcorr 分别为 0.038 和 0.048)。因此,我们未能证实个性化方案的疗效和优于标准方案和假刺激。考虑到标准方案的效果,对其进行进一步研究是有希望的。
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引用次数: 0
Comparative bioinformatics analysis of antimicrobial resistance gene pool in the genomes of representatives of genus Corynebacterium 杆菌属代表基因组中抗菌药耐药性基因库的比较生物信息学分析
IF 0.2 Q4 MEDICINE, GENERAL & INTERNAL Pub Date : 2023-12-01 DOI: 10.24075/brsmu.2023.047
TA Kulshan, IO Bugaeva, EF Soboleva, MS Allyanova, DA Popov, IG Shvidenko
Currently, multidrug resistance of bacterial infectious agents poses a serious threat to the global public health. The following Corynebacterium strains are of special importance for infections, including hospital-acquired ones: C. amycolatum, C. urealyticum, C. striatum, C. jeikeium, C. aurimucosum, C. genitalium that are resistant to the broad spectrum of antimicrobial drugs. The study was aimed to conduct bioinformatics analysis of the pool of antimicrobial resistance genes in the published genomes of some members of the genus Corynebacterium. The data on the whole genome nucleotide sequences of 22 Corynebacterium isolates readily available from NCBI GenBank were assessed. Bioinformatics analysis of the whole genome sequences conducted in order to search for antimicrobial resistance genes in the specified genomes was performed using the PATRIC online resource. It was found that the genomes provided comprised various combinations of 25 antimicrobial drug resistance genes. Amino acid substitutions in GyrA (positions 87, 88 and 91) were revealed in some Corynebacterium strains, through which quinolone/fluoroquinolone resistance could be realized.
目前,细菌传染源的多重耐药性对全球公共卫生构成了严重威胁。下列棒状杆菌菌株对感染(包括医院获得性感染)具有特别重要的意义:amycolatum棒状杆菌、urealyticum棒状杆菌、striatum棒状杆菌、jeikeium棒状杆菌:C.amycolatum、C.urealyticum、C.striatum、C.jeikeium、C.aurimucosum、C.genitalium,它们对广谱抗菌药物具有耐药性。该研究旨在对已公布的部分棒状杆菌属成员基因组中的抗菌药耐药基因库进行生物信息学分析。研究人员评估了从 NCBI GenBank 获取的 22 个科里纳菌分离株的全基因组核苷酸序列数据。利用 PATRIC 在线资源对全基因组序列进行了生物信息学分析,以便在指定基因组中搜索抗菌药耐药性基因。结果发现,所提供的基因组包含 25 个抗菌药物耐药性基因的不同组合。在一些棒状杆菌菌株中发现了 GyrA(第 87、88 和 91 位)的氨基酸替换,通过这种替换可实现对喹诺酮/氟喹诺酮类药物的耐药性。
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引用次数: 0
Efficacy of the jawbone defect elimination 消除颌骨缺陷的功效
IF 0.2 Q4 MEDICINE, GENERAL & INTERNAL Pub Date : 2023-11-01 DOI: 10.24075/brsmu.2023.044
G. Poryadin, DA Eremin, N. Khelminskaya, V. Kravets, IV Zhitareva, AV Posadskaya, NM Krasnov, PA Shen, MA Gureshidze
The regenerative medicine methods are being actively developed both in Russia and abroad due to relevance of this direction, especially in the field of the jaw osteoplasty. Autologous, allogeneic and xenoplastic materials, as well as the calcium phosphate ceramics synthetic preparations are conventionally used to normalize and stimulate osteogenesis, however, the treatment outcomes are not always unequivocal. The study was aimed to substantiate the use of the biocomplex consisting of plasma rich in growth factors (PRGF) and xenoplastic material to improve the jawbone osteogenesis efficacy. The study involved 136 patients (105 females and 31 males aged 21–67) divided into four groups based on the method of bone defect restoration. In group 1, no osteoplastic material was used; in group 2, osteoplasty involved the use of the PRGF fibrin gel; in group 3, the Osteobiol Gen-Os material was used; in group 4, osteoplasty involved using the combination of the Osteobiol Gen-Os material and plasma rich in growth factors (PRGF). Computed tomography and digital densitometry were performed before surgery and 3, 6, 12 months after it to assess the dynamics of osteogenesis. A year later restoration of the lost bone tissue volume was reported in 100% of patients in group 4, 70.27% of patients in group 3, 43.47% of patients in group 2, 37.5% of patients in group 1; Fisher's exact test revealed significant differences in the osteoplasty outcomes in groups 3 and 4 (p = 0.00002). There were significant differences in bone density between patients of groups 1 and 2 twelve months after surgery (p = 0.044), between patient of groups 3 and 4 three (p = 0.004), six (p = 0.0001) and 12 (p = 0.0001) months after surgery. The findings show that the method proposed is effective.
由于再生医学的重要性,俄罗斯和国外都在积极发展再生医学方法,尤其是在颌骨整形领域。自体、异体和异种材料以及磷酸钙陶瓷合成制剂通常被用于正常化和刺激骨生成,但治疗效果并不总是明确的。这项研究旨在证实由富含生长因子的血浆(PRGF)和异种材料组成的生物复合物对改善颌骨成骨疗效的作用。研究根据骨缺损修复方法将 136 名患者(女 105 人,男 31 人,年龄 21-67 岁)分为四组。第一组不使用骨整形材料;第二组使用富含生长因子的纤维蛋白凝胶进行骨整形;第三组使用Osteobiol Gen-Os材料;第四组结合使用Osteobiol Gen-Os材料和富含生长因子的血浆(PRGF)进行骨整形。手术前和手术后 3、6、12 个月分别进行了计算机断层扫描和数字密度测量,以评估骨生成的动态。一年后,第 4 组 100%的患者、第 3 组 70.27%的患者、第 2 组 43.47%的患者、第 1 组 37.5%的患者恢复了失去的骨组织量;费雪精确检验显示,第 3 组和第 4 组的骨成形术结果存在显著差异(P = 0.00002)。第 1 组和第 2 组患者术后 12 个月的骨密度有明显差异(p = 0.044),第 3 组和第 4 组患者术后 3 个月(p = 0.004)、6 个月(p = 0.0001)和 12 个月(p = 0.0001)的骨密度有明显差异。研究结果表明,所建议的方法是有效的。
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引用次数: 0
CYP2D6*3, *4, *6 genotypes and endometrial thickness in patients with breast cancer during tamoxifen therapy 他莫昔芬治疗期间乳腺癌患者CYP2D6*3、*4、*6基因型与子宫内膜厚度的关系
Q4 MEDICINE, GENERAL & INTERNAL Pub Date : 2023-10-01 DOI: 10.24075/brsmu.2023.041
AYu Goryainova, NYu Usman, AV Rubanovich, SA Borinskaya, AA Mescheryakov
Tamoxifen therapy results in endometrial thickening in some patients with hormone-sensitive breast cancer (HSBC). The data on the impact of polymorphic variants of the CYP2D6 gene encoding the CYP2D6 enzyme of the cytochrome P450 family on the efficacy and safety of treatment with tamoxifen are controversial. A prospective cohort study was aimed to explore the association of CYP2D6*3, *4, *6 polymorphisms with the risk of endometrial thickness during adjuvant tamoxifen therapy for HSBC. A total of 145 patients with resectable HSBC, who received 20 mg of oral tamoxifen per day, were enrolled. The CYP2D6*3, *4, *6 polymorphisms were identified by real-time PCR. Endometrial thickness was measured by ultrasonography after 3, 6 and 9 months of endocrine therapy. The study showed that endometrial hyportrophy was more often found in patients having no alternative alleles after 3 months of follow-up (40% against 23.2% in the group of “poor” metabolizers; p = 0.034). Meta-analysis of all follow-up periods has revealed that “normal” metabolizers show a significantly higher rate of endometrial thickness than “poor” metabolizers (OR = 1.88; 95% CI = 1.27–2.79; p = 0.002). A lack of significant differences in indicators of the state of endometrium between groups of patients with different CYD2D6 genotypes and menopausal status requires further investigation.
他莫昔芬治疗导致一些激素敏感性乳腺癌患者子宫内膜增厚(HSBC)。编码细胞色素P450家族CYP2D6酶的CYP2D6基因多态性变异对他莫昔芬治疗的疗效和安全性的影响数据存在争议。一项前瞻性队列研究旨在探讨CYP2D6*3, *4, *6多态性与汇丰银行辅助他莫昔芬治疗期间子宫内膜厚度风险的关系。共纳入145例可切除的HSBC患者,每天接受20mg口服他莫昔芬。实时荧光定量PCR检测CYP2D6*3、*4、*6基因多态性。分别于内分泌治疗3、6、9个月后超声检查子宫内膜厚度。研究表明,在随访3个月后,没有替代等位基因的患者更常发现子宫内膜肥厚(40%对23.2%的“差”代谢组;P = 0.034)。所有随访期的荟萃分析显示,“正常”代谢者的子宫内膜厚度率明显高于“不良”代谢者(OR = 1.88;95% ci = 1.27-2.79;P = 0.002)。不同CYD2D6基因型和绝经期患者组间子宫内膜状态指标无显著差异,有待进一步研究。
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引用次数: 0
Cerebral neural networks in cases of concomitant chronic cerebral ischemia and type 2 diabetes mellitus 慢性脑缺血伴发2型糖尿病的脑神经网络研究
Q4 MEDICINE, GENERAL & INTERNAL Pub Date : 2023-10-01 DOI: 10.24075/brsmu.2023.042
VF Fokin, NV Ponomareva, RN Konovalov, AA Shabalina, RB Medvedev, OV Lagoda, AI Boravova, MV Krotenkova, MM Tanashyan
With type 2 diabetes mellitus (DM2) as a concomitant disease, chronic cerebral ischemia (CCI) has a more severe course because of chronic hyperglycemia. Using resting state functional MRI (fMRI) data, this study aimed to investigate connectivity of cerebral neural networks in patients that have CCI with DM2 and without DM2. The study involved 257 CCI patients (81 male and 176 female, aged 50-85 years) some of whom had DM2. We assessed metabolic parameters, state of cerebral circulation, and cognitive functions. Resting fMRI was used for the analysis of structure of connectivity of cerebral neural networks. With false discovery rate (FDR) factored in, CCI patients with DM2 had values of some indicators of connectivity of cerebral neural networks at a level significantly lower than CCI patients without DM2 (p (FDR) < 0.05). Namely, the indicators in question were those of connectivity of right hemisphere's speech neural network, left hemisphere's parahippocampal region, and angular gyrus of the right hemisphere, which is an integral part of the brain's passive mode network. Also, CCI patients with DM2 had significantly poorer connectivity of anterior cingulate gyrus, part of the salient neural network, and superior temporal gyrus. There are significant changes in the cerebellar networks, too. Overall, the size and intensity of most of the neural networks studied in resting state are lower in CCI patients with DM2.
2型糖尿病(DM2)作为伴发疾病,慢性脑缺血(CCI)因慢性高血糖而病程更为严重。利用静息状态功能MRI (fMRI)数据,本研究旨在研究有DM2和没有DM2的CCI患者大脑神经网络的连通性。该研究涉及257例CCI患者(男性81例,女性176例,年龄50-85岁),其中一些患者患有DM2。我们评估了代谢参数、脑循环状态和认知功能。静息fMRI分析脑神经网络连接结构。在考虑错误发现率(FDR)的情况下,患有DM2的CCI患者的部分脑神经网络连通性指标值显著低于未患有DM2的CCI患者(p (FDR) <0.05)。即右半球言语神经网络、左半球海马旁区和右半球角回的连通性指标,角回是大脑被动模式网络的组成部分。CCI患者DM2的前扣带回、部分突出神经网络与颞上回的连通性明显较差。小脑网络也有显著的变化。总体而言,DM2 CCI患者静息状态下研究的大多数神经网络的大小和强度都较低。
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引用次数: 0
Effect of different mobile device screen time durations on neuropsychiatric health of schoolchildren 不同移动设备屏幕时间对小学生神经精神健康的影响
Q4 MEDICINE, GENERAL & INTERNAL Pub Date : 2023-10-01 DOI: 10.24075/brsmu.2023.040
JuV Solovyova, SS Paunova, VR Semicheva, NA Skoblina, OYu Milushkina
Uncontrolled screen time is a worldwide menace to health of the population. Today, the state of neuropsychiatric health of schoolchildren depends on various factors, including screen time, i.e., the time they spend using mobile electronic devices. This study aimed to investigate how different screen time durations affect the said neuropsychiatric health of this population group. In the 2022–2023 academic year, we surveyed 109 Moscow schoolchildren (35 boys and 74 girls) using questionnaires compiled by A.M. Vane (identification of signs of vegetative symptoms) and S.K. Kulakov (identification of internet addiction). The mean age of the participants was 14.9 ± 0.12 years. The children were divided into two groups: those staying within the regulated limit of mobile screen time (group 1, n = 11), and those exceeding that limit (group 2, n = 98). In group 1, the average mobile screen time, as measured for one month, was 110.50 ± 10.00 minutes per day, in group 2 — 345.00 ± 15.00. The average Vane questionnaire scores differed significantly between the groups (p ≤ 0.01): 12.30 ± 1.89 points in group 1 and 22.54 ± 1.16 points in group 2. Signs of vegetative symptoms were registered in 45.9% of group 1 participants and 63.6% of group 2 participants (p ≤ 0.01). The average Kulakov questionnaire scores differed significantly between the groups (p ≤ 0.05): 28.7 ± 1.88 points in group 1 and 37.1 ± 1.09 points in group 2. Schoolchildren who exceed the regulated mobile screen time limit are at risk of developing vegetative disorders and internet addiction.
不受控制的屏幕时间对全球人口的健康构成威胁。今天,学童的神经精神健康状况取决于各种因素,包括屏幕时间,即他们使用移动电子设备的时间。本研究旨在调查不同的屏幕时间持续时间如何影响这一人群的上述神经精神健康。在2022-2023学年,我们使用A.M.编制的问卷调查了109名莫斯科学童(35名男孩和74名女孩)Vane(植物性症状的识别)和S.K. Kulakov(网络成瘾的识别)。参与者的平均年龄为14.9±0.12岁。儿童被分为两组:一组在规定的手机屏幕时间限制内(组1,n = 11),另一组超过该限制(组2,n = 98)。组1的平均手机屏幕使用时间为110.50±10.00分钟/天,组2为- 345.00±15.00分钟/天。Vane问卷平均得分组间差异有统计学意义(p≤0.01):组1为12.30±1.89分,组2为22.54±1.16分。45.9%的第1组和63.6%的第2组有植物性症状(p≤0.01)。库拉科夫问卷平均得分组间差异有统计学意义(p≤0.05):1组28.7±1.88分,2组37.1±1.09分。超过规定的手机屏幕使用时间限制的学童有患植物性疾病和网络成瘾的风险。
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引用次数: 0
Features of CD163+ and HLA-DR+ expression on blood monocytes associated with breast cancer CD163+和HLA-DR+在乳腺癌相关单核细胞中的表达特征
Q4 MEDICINE, GENERAL & INTERNAL Pub Date : 2023-10-01 DOI: 10.24075/brsmu.2023.043
MR Patysheva, MN Stakheyeva, ES Grigoryeva, NA Tarabanovskaya, OD Bragina, JG Kzhyshkowska, NV Cherdyntseva
Circulating monocytes are important actors of the tumor growth pathogenesis. It has been shown that some features of the monocyte populations expressing endocytosis receptors or the major histocompatibility complex components are observed in blood of patients with breast cancer. The study was aimed to assess the relationship of tumor parameters and blood cytokine profile with the composition of circulating monocyte populations in patients with localized and locally advanced breast cancer. The study has shown that the circulating monocytes’ phenotypic characteristics are correlated to the clinical and morphological features of the neoplastic process. The content of populations with the CD14+CD16++CD163+ and CD14++CD16+CD163+ phenotypes positively correlates with the disease stage, while larger primary tumor size is associated with lower CD14+CD16++ monocyte levels. Elevated serum levels of IL8 and МСР-1 are observed in breast cancer patients. High IL6 levels in patients with breast cancer are associated with the reduced percentage of CD14++CD16-HLA-DR+, CD14+CD16++HLA-DR+ and CD14++CD16-СD163+ monocytes. Thus, CD163+ and HLA-DR+ monocytes are associated with the clinical and morphological parameters and blood levels of cytokines, which suggests that these populations are involved in breast cancer progression and indicates that further research is advisable for translation of the findings into clinical practice.
循环单核细胞是肿瘤生长发病的重要因素。研究表明,在乳腺癌患者的血液中,表达内吞受体或主要组织相容性复合体成分的单核细胞群具有某些特征。该研究旨在评估局部和局部晚期乳腺癌患者的肿瘤参数和血液细胞因子谱与循环单核细胞群组成的关系。研究表明,循环单核细胞的表型特征与肿瘤过程的临床和形态学特征相关。CD14+CD16++CD163+和CD14++CD16+CD163+表型人群的含量与疾病分期呈正相关,而原发肿瘤大小越大,CD14+CD16++单核细胞水平越低。乳腺癌患者血清中il - 8和МСР-1水平升高。乳腺癌患者中高il - 6水平与CD14++CD16-HLA-DR+、CD14+CD16++HLA-DR+和CD14++CD16-СD163+单核细胞百分比降低相关。因此,CD163+和HLA-DR+单核细胞与临床和形态学参数以及细胞因子的血液水平相关,这表明这些群体参与了乳腺癌的进展,并表明进一步的研究将这些发现转化为临床实践是可取的。
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引用次数: 0
Gene geography of pharmacogenetically significant CYP2C19 cytochrome superfamily DNA markers in the populations of Russia and neighboring countries 俄罗斯及周边国家人群CYP2C19细胞色素超家族DNA标记的药理学意义
Q4 MEDICINE, GENERAL & INTERNAL Pub Date : 2023-10-01 DOI: 10.24075/brsmu.2023.039
EV Balanovska, ShP Abdulaev, IO Gorin, RO Belov, EA Mukatdarova, VYu Pylev
Genetic testing of each patient aimed at detecting the pharmacogenetic marker carrier state is challenging for healthcare system. However, knowledge about the frequencies of pharmacogenetically important genes enables making decisions about treatment based on the patient’s ethnicity. The CYP2C19 cytochrome gene involved in biotransformation of a broad spectrum of drugs is one of the most important. The study was aimed to determine the frequencies of major CYP2C19 variants and the patterns of their spatial variability in the population of Russia. The database Pharmacogenetics of the Population of Russia and Neighboring Countries created by the research team was used to determine frequencies of the CYP2C19 *1, *2, *3, *17 variants and their genotypes: *1 – 53 populations, n = 2261 samples; *2 — 79 populations, n = 6346; *3 — 92 populations, n = 7517; *17 — 35 populations, n = 3313. We have created a cartographic atlas that includes the *1, *2, *3, *17 frequency maps, correlation maps, and genotype frequency maps. Specific data on the frequencies of CYP2C19 variants and their pharmacogenetically significant genotypes in the major ethnic groups of Russia are provided. The cartographic atlas enables prediction of frequencies of significant CYP2C19 variants and their genotypes in the peoples, information about which is currently missing. The *1 and *2 variants gene geography is characterized by similar pattern: the combination of longitudinal trend of frequency increase from west to southeast and latitudinal variability of frequency increase from north to south in the Asian part of the region. Variant *3 is characterized by the clear longitudinal vector of frequency increase from 0 in the west to the world’s maximum in the Amur region. Variant *17 shows a pronounced longitudinal trend with the oppositely directed vector of frequency decrease from west to southeast. The correlation maps indicate regions, where the similarity between core patterns is disrupted.
对每个患者进行基因检测以检测药物遗传标记载体状态是医疗保健系统面临的挑战。然而,了解药理学上重要基因的频率可以根据患者的种族来决定治疗。CYP2C19细胞色素基因是参与广谱药物生物转化的最重要基因之一。该研究旨在确定俄罗斯人群中主要CYP2C19变异的频率及其空间变异模式。利用课题组建立的俄罗斯及周边国家人群药物遗传学数据库,测定CYP2C19 *1、*2、*3、*17变异及其基因型的频率:*1 ~ 53个人群,n = 2261个样本;*2 - 79个种群,n = 6346;*3 - 92个种群,n = 7517;*17 - 35个种群,n = 3313。我们已经创建了一个地图图集,包括*1,*2,*3,*17频率图,相关图,和基因型频率图。提供了俄罗斯主要民族CYP2C19变异频率及其药理学意义基因型的具体数据。该图谱能够预测人群中重要CYP2C19变异及其基因型的频率,这方面的信息目前尚不清楚。*1和*2变异基因的地理分布具有相似的格局,即亚洲部分从西到东南频率增加的纵向趋势和从北到南频率增加的纬向变异相结合。变体*3的特征是频率从西部的0增加到阿穆尔河地区的世界最大值的纵向矢量清晰。变异*17呈现明显的纵向趋势,频率矢量由西向东南相反方向递减。相关图指出了核模式之间的相似性被破坏的区域。
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引用次数: 0
Ischemic stroke with and without brachiocephalic artery dissections: results of comprehensive examination of patients 缺血性脑卒中伴和不伴头臂动脉夹层:患者综合检查结果
Q4 MEDICINE, GENERAL & INTERNAL Pub Date : 2023-10-01 DOI: 10.24075/brsmu.2023.037
EV Orlova, AB Berdalin, ID Reshetarov, VG Lelyuk
Currently, there are no clearly defined optimal diagnostic strategies of detection of dissections. This study aimed to analyze and compare the results of comprehensive examinations of people who suffered an ischemic stroke (IS) with and without brachiocephalic artery (BCA) dissections. Dissections group, formed based on the results of multispiral computed tomography angiography that confirmed dissections, included 53 patients, and control group — patients without BCA dissections — comprised 1451 people; examination of all patients involved duplex scanning (DS) of BCA and transcranial part, transthoracic echocadiography (TTE), multispiral computed tomography angiography (msCTA) and/or magnetic resonance imaging (MRI). Patients with dissection were younger (p < 0.0005) and had a lower body mass index (p < 0.0005) than participants from the control group; according to echocadiography, they were less likely to have left (p = 0.014) and right (p = 0.018) atrial dilation and aortic stenosis (p = 0.017). Also, dissections were significantly less often associated with atherosclerotic plaques in the common carotid artery (CCA) (p < 0.002), and BCA deformations (p < 0.05). Duplex scanning of BCA revealed that in patients with dissections, differentiation of the intima-media complex in CCA was compromised significantly less often, and signs of thrombosis of the internal carotid artery were registered significantly more often (p = 0.021 and p = 0.004); according to MRI, such patients had less pronounced changes in the periventricular and deep white matter of the brain (p < 0.0005 and p = 0.001) and never suffered strategic infarcts affecting the thalamus area (p < 0.0005). Comparison of the results of examinations of IS patients with and without BCA dissections revealed differences that are probably conditioned by the younger age of those who had said dissections.
目前,没有明确定义的最佳诊断策略检测的解剖。本研究旨在分析和比较缺血性中风(IS)患者合并和不合并头臂动脉(BCA)夹层的综合检查结果。根据多螺旋计算机断层血管造影结果确定的夹层组成的夹层组包括53例患者,对照组-没有BCA夹层的患者-包括1451例;所有患者的检查包括BCA和经颅部分的双相扫描(DS),经胸超声心动图(TTE),多螺旋计算机断层血管造影(msCTA)和/或磁共振成像(MRI)。夹层患者年龄较小(p <0.0005),体重指数较低(p <0.0005)高于对照组;超声心动图显示,左心房扩张(p = 0.014)和右心房扩张(p = 0.018)和主动脉狭窄(p = 0.017)的发生率较低。此外,夹层与颈总动脉(CCA)动脉粥样硬化斑块的相关性也显著降低(p <0.002), BCA变形(p <0.05)。BCA双相扫描显示,有夹层的患者,CCA内膜-中膜复合物分化受损明显较少,颈内动脉血栓形成的征象明显较多(p = 0.021和p = 0.004);根据MRI,这类患者在脑室周围和脑深部白质的改变不太明显(p <0.0005和p = 0.001),从未发生过影响丘脑区域的战略性梗死(p <0.0005)。对伴有和未伴有BCA解剖的IS患者的检查结果进行比较,结果显示,这些差异可能是由于接受过BCA解剖的患者年龄较小所致。
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Bulletin of Russian State Medical University
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