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Awareness of biobanking among patients and doctors: experience of the Tomsk Oblast 病人和医生对生物银行的认识:托木斯克州的经验
Q3 Social Sciences Pub Date : 2023-12-10 DOI: 10.15829/1728-8800-2023-3678
E. M. Kamenskikh, Yu.O. Bakhareva, Yu. D. Demchenko, T. S. Sokolova, S. Kazakov, K. A. Chubakova, O. Fedorova
Aim. To assess awareness of biobanking among patients and healthcare professionals, and to identify factors influencing willingness to become donors and participate in the collection of biological material.Material and methods. A qualitative study was conducted based on semi-structured interviews of doctors (n=11) and patients (n=11) of Tomsk medical organizations. The results obtained were processed using lexical and comparative analysis techniques.Results. The experience of participation in biobanking was extremely limited among both patients and doctors, but those who had previous experience evaluated it positively. Patients and doctors had not received information about biobanks from official sources, but intuitively understood their functions and roles in biomedical research. Patients were willing to donate biomaterials, while doctors were willing to collect them, but both parties emphasized the importance of understanding the purpose and future use of the biomaterials. Patients wanted to ensure the safety of the collection procedures and the confidentiality of their personal data. The main motives for donating biomaterial were contribution to scientific development, potential attractiveness for the descendants of donors, social origin and material reward.Conclusion. Popularizing biobanking and increasing the awareness of donors and healthcare professionals about the regulatory framework governing biobanking activities can help establish trust and enhance readiness for donation, even regarding invasive biomaterial collection procedures.
目的评估患者和医护人员对生物库的认识,确定影响捐献者和参与生物材料采集意愿的因素。在对托木斯克医疗机构的医生(11 人)和患者(11 人)进行半结构式访谈的基础上开展了一项定性研究。研究结果采用词汇和比较分析技术进行处理。患者和医生参与生物库的经验都非常有限,但有过参与经验的人都给予了积极的评价。患者和医生没有从官方渠道获得有关生物库的信息,但凭直觉了解生物库在生物医学研究中的功能和作用。患者愿意捐赠生物材料,而医生愿意收集生物材料,但双方都强调了解生物材料的目的和未来用途的重要性。患者希望确保收集程序的安全性及其个人数据的保密性。捐赠生物材料的主要动机是对科学发展的贡献、对捐赠者后代的潜在吸引力、社会出身和物质回报。普及生物银行以及提高捐献者和医疗保健专业人员对生物银行活动监管框架的认识,有助于建立信任和提高捐献意愿,即使是在侵入性生物材料采集程序方面。
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引用次数: 0
Assessment of the reliability of serological monitoring results based on biobank materials 根据生物库材料评估血清学监测结果的可靠性
Q3 Social Sciences Pub Date : 2023-12-10 DOI: 10.15829/1728-8800-2023-3709
A. Nozdracheva, T. A. Semenenko
Aim. To evaluate the safety of immunoglobulins (Ig) of different classes (IgA, IgM, IgG, IgE) under conditions of long-term low-temperature storage of blood serum samples.Material and methods. The work used samples of blood serum from the collection of the Department of Epidemiology, examined by enzyme immunoassay for antibodies of classes IgA, IgM, IgG, IgE twice as follows: immediately upon receipt in the laboratory and after storage at a temperature of -70о C for 8 years.Results. After the storage of seropositive sera, the level of IgA antibodies did not change significantly (p=0,7). For the remaining classes of immunoglobulins (IgM, IgG, IgE), a small (not >15%) but significant decrease (p<0,05), most pronounced for IgE, was observed. It was shown that the higher the antibody level in the samples during the first study, the more it decreased after long-term storage (correlation at p<0,05). This did not lead to false negative results, which is due to the greater accuracy in measuring small values.Conclusion. Long-term low-temperature storage of serum samples in biobank conditions ensures the safety of antibodies of different classes and is the basis for the reliability of future studies.
目的评估血清样本长期低温储存条件下不同类别(IgA、IgM、IgG、IgE)免疫球蛋白(Ig)的安全性。这项工作使用了流行病学部收集的血清样本,用酶免疫测定法检测了 IgA、IgM、IgG、IgE 类抗体,检测过程分为两次:实验室收到样本后立即检测和在-70о C 温度下储存 8 年后检测。血清阳性血清储存后,IgA 抗体水平无明显变化(p=0.7)。其余类别的免疫球蛋白(IgM、IgG、IgE)的下降幅度很小(不大于 15%),但很明显(p<0,05),其中以 IgE 的下降最为明显。结果表明,第一次研究时样本中的抗体水平越高,长期储存后抗体水平下降越多(相关性为 p<0,05)。这并没有导致假阴性结果,这是因为测量小数值的准确性更高。在生物库条件下长期低温储存血清样本可确保不同类别抗体的安全性,是未来研究可靠性的基础。
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引用次数: 0
Cryostorage of peripheral blood hematopoietic stem cells in transplantology: current status and prospects 移植学中外周血造血干细胞的冷冻储存:现状与前景
Q3 Social Sciences Pub Date : 2023-12-10 DOI: 10.15829/1728-8800-2023-3691
O. I. Kit, N. Gnennaya, S. Filippova, T. V. Chembarova, I. Lysenko, I. A. Novikova, L. Rozenko, S. Dimitriadi, E. V. Shalashnaya, O. G. Ishonina
Peripheral blood hematopoietic stem cell (HSC) transplantation is a well-established procedure for the treatment of hematological, cancer and autoimmune diseases. In cancer patients, HSC transplantation allows the use of high-dose cytotoxic drugs in combination with radiation therapy during treatment, which provides a pronounced antitumor effect. The hematological toxicity of such treatment is eliminated by the sequential introduction of stem cells, which contribute to hematopoiesis restoration. Before transplantation, peripheral blood HSCs are subjected to collection and cryopreservation for further storage. An important requirement for cryopreservation is viable HSCs responsible for hematopoietic restoration. The aim of the review was to analyze the literature devoted to the influence of various methods of cryopreservation of human peripheral blood HSCs on the preservation of cell viability after thawing, as well as the development of adverse events in patients. Issues related to the use of various cryoprotectants, as well as methods for storing HSC grafts, are considered. The presented data indicate the need for further study of the effect of cryoprotectants on the human body and the cellular composition of the graft and improvement of protocols for HSC cryopreservation.
外周血造血干细胞(HSC)移植是治疗血液病、癌症和自身免疫性疾病的一种行之有效的方法。对癌症患者而言,造血干细胞移植可在治疗过程中结合放射治疗使用大剂量细胞毒性药物,从而产生明显的抗肿瘤效果。干细胞的连续输入有助于造血功能的恢复,从而消除了此类治疗的血液毒性。移植前,外周血造血干细胞需要收集和冷冻保存,以便进一步储存。冷冻保存的一个重要条件是负责造血功能恢复的造血干细胞具有存活能力。本综述旨在分析有关人类外周血造血干细胞各种冷冻保存方法对解冻后细胞存活率的影响以及患者不良反应发生情况的文献。研究考虑了与使用各种低温保护剂以及储存造血干细胞移植物的方法有关的问题。所提供的数据表明,有必要进一步研究低温保护剂对人体和移植物细胞组成的影响,并改进造血干细胞低温保存方案。
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引用次数: 0
Specifics of creating clinical abstract of biospecimens 创建生物样本临床摘要的具体内容
Q3 Social Sciences Pub Date : 2023-12-10 DOI: 10.15829/1728-8800-2023-3855
O. Kopylova, A. Ershova, A. L. Borisova, V. A. Metelskaya, O. Drapkina
One technology that helps overcome the problem of low research reproducibility is biobanking, which involves maintaining strict quality standards at all stages. In addition to data on the biosample (detailed documentation on sampling, transportation, preparation and subsequent storage), one of the key points is the availability of information about the donor (patient). The aim of this article was to analyze creating clinical abstract of biospecimens, combining data from various biobanks and assessing the possibilities of electronic medical records and other modern technologies for this. The search for publications was carried out in the PUBMED, eLIBRARY.RU, RSCI databases. One approach to creating a clinical description is the targeted collection of information by a specially trained employee. Primary information is most often taken from the individual records of the study participant, which are developed and approved when planning work. An alternative method is the use of electronic medical records and other documents that collect information during the assessment and treatment of patients. There are also mixed types of clinical data collection, a prime example of which is the UK Biobank. Completeness, structure, and standardization are essential characteristics of clinical description associated with biospecimens. Various standards are currently being developed to unify clinical description, making biobanks and collections more available to external researchers and organizations, which is necessary for collaboration and more efficient use of stored biospecimens. Harmonization of clinical description methodology between different biobanks open up broad boundaries for large- scale research within personalized and translational medicine.
生物库是有助于克服研究可重复性低这一问题的一项技术,它涉及在各个阶段保持严格的质量标准。除了生物样本的数据(关于采样、运输、制备和后续储存的详细记录)外,其中一个关键点是提供关于捐献者(患者)的信息。本文旨在分析生物样本临床摘要的创建情况,将来自不同生物库的数据结合起来,并评估电子病历和其他现代技术在这方面的可能性。在 PUBMED、eLIBRARY.RU 和 RSCI 数据库中搜索了相关出版物。创建临床描述的一种方法是由受过专门培训的员工有针对性地收集信息。主要信息通常取自研究参与者的个人记录,这些记录是在计划工作时编制和批准的。另一种方法是使用电子病历和其他文件,在对患者进行评估和治疗的过程中收集信息。还有一些混合类型的临床数据收集,英国生物库就是一个典型的例子。完整性、结构性和标准化是与生物样本相关的临床描述的基本特征。目前正在制定各种标准,以统一临床描述,使生物库和收集的数据更便于外部研究人员和组织使用,这对于合作和更有效地使用存储的生物样本是非常必要的。不同生物库之间临床描述方法的统一为个性化医学和转化医学领域的大规模研究开辟了广阔的前景。
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引用次数: 0
BioVitrina web repository — access to data on bioresource collections BioVitrina 网络存储库--获取生物资源收藏数据
Q3 Social Sciences Pub Date : 2023-12-10 DOI: 10.15829/1728-8800-2023-3720
A. S. Bukreeva, K. Malsagova, A. A. Izotov, A. V. Lisitsa, A. L. Kaisheva
Aim. To develop the BioVitrina web repository for visualizing data on biological samples available in the organization (https://bb.ibmc.msk.ru).Material and methods. The following set of tools was used: PostgreSQL 12, Python 3.8 scripting language, Django 3.2.7, Angular 12.2.13, Nginx, Docker 3, Redis 6.Results. Biological samples are systematized according to the International Classification of Diseases, 10th revision (ICD-10). After selecting the most suitable biosamples, the User has the opportunity to submit a request for their receipt. A necessary condition for obtaining biological samples is the subsequent publication of the results of experimental studies in the BioVitrina web repository. Such an exchange of analytical research results will avoid repetition of similar studies and will contribute to the conservation of material resources.Conclusion. "BioVitrina" was developed to optimize the infrastructure of biobanks of organizations and ensure the availability of information about their existing bioresource collections. This will solve many issues related to the use of different types of biomaterials, both for research and clinical purposes in personalized biomedicine.
目的开发 BioVitrina 网络存储库,用于可视化组织内现有的生物样本数据(https://bb.ibmc.msk.ru)。材料与方法。使用了以下工具:PostgreSQL 12、Python 3.8 脚本语言、Django 3.2.7、Angular 12.2.13、Nginx、Docker 3、Redis 6。生物样本根据《国际疾病分类》第 10 版(ICD-10)进行系统分类。在选择了最合适的生物样本后,用户可以提交接收生物样本的申请。获得生物样本的一个必要条件是随后在 BioVitrina 网络存储库中公布实验研究结果。这种分析研究成果的交流将避免类似研究的重复,并有助于保护物质资源。开发 "BioVitrina "的目的是优化各组织生物库的基础设施,并确保其现有生物资源收藏信息的可用性。这将解决与使用不同类型的生物材料有关的许多问题,包括用于个性化生物医学的研究和临床目的。
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引用次数: 0
Inventory and quality control of biosample collection from pregnant women at different gestational ages to search for early biomarkers of pregnancy complications 为寻找妊娠并发症的早期生物标志物,对不同孕龄孕妇的生物样本采集进行清点和质量控制
Q3 Social Sciences Pub Date : 2023-12-09 DOI: 10.15829/1728-8800-2023-3740
A. Maltseva, R. Illarionov, E. Vashukova, O. Pachulia, T. B. Postnikova, M. E. Velizhanina, A. Rubel, Y. Nasykhova, O. Bespalova, A. Glotov
Aim. To conduct an inventory and quality control of biosample collection from pregnant women at different gestational ages to search for early biomarkers of pregnancy complications.Material and methods. In this work, methods for assessing the sample preparation of biosamples were used, including the isolation of deoxyribonucleic acid (DNA)/ribonucleic acid from various biomaterials, polyacrylamide gel electrophoresis of protein, and database analysis.Results. Inventory and quality control of the collection (n=18390) was carried out, which confirmed the high safety of the biomaterial, regardless of storage period. The mean concentration of DNA was 69,96±6,56 ng/µl, extracellular DNA (ecDNA) — 0,20±0,02 ng/µl, ribonucleic acid — 38,16±5,69 ng/µl. DNA Integrity Number (DIN) >9, RNA integrity number (RIN) >7, A260/280 >1,8 were for all studied samples. Protein electrophoresis demonstrated no degradation of protein zones after longterm storage. The number of errors detected during the inventory was 84 (0,46% of all records in the database), while there were 64 donors with incomplete clinical information (15% of all donors in the collection).Conclusion. The necessity of mandatory implementation of standard operating procedures when creating and maintaining a collection, on the one hand, and periodic inventory with biosample quality assessment, on the other, has been demonstrated.
目的对不同孕龄孕妇的生物样本采集进行清点和质量控制,以寻找妊娠并发症的早期生物标志物。在这项工作中,采用了评估生物样本制备的方法,包括从各种生物材料中分离脱氧核糖核酸(DNA)/核糖核酸、蛋白质的聚丙烯酰胺凝胶电泳和数据库分析。对收集到的生物材料(约 18390 份)进行了清点和质量控制,结果表明,无论储存时间长短,生物材料的安全性都很高。DNA的平均浓度为(69.96±6.56)纳克/微升,细胞外DNA(ecDNA)为(0.20±0.02)纳克/微升,核糖核酸为(38.16±5.69)纳克/微升。所有研究样本的 DNA 完整性指数 (DIN) >9,RNA 完整性指数 (RIN) >7,A260/280 >1.8。蛋白质电泳显示,长期储存后蛋白质区没有降解。在清点过程中发现的错误数量为 84 个(占数据库中所有记录的 0.46%),而临床信息不完整的捐献者有 64 名(占采集中所有捐献者的 15%)。结论:一方面,在创建和维护样本库时必须强制执行标准操作程序;另一方面,在进行生物样本质量评估时必须定期进行盘点。
{"title":"Inventory and quality control of biosample collection from pregnant women at different gestational ages to search for early biomarkers of pregnancy complications","authors":"A. Maltseva, R. Illarionov, E. Vashukova, O. Pachulia, T. B. Postnikova, M. E. Velizhanina, A. Rubel, Y. Nasykhova, O. Bespalova, A. Glotov","doi":"10.15829/1728-8800-2023-3740","DOIUrl":"https://doi.org/10.15829/1728-8800-2023-3740","url":null,"abstract":"Aim. To conduct an inventory and quality control of biosample collection from pregnant women at different gestational ages to search for early biomarkers of pregnancy complications.Material and methods. In this work, methods for assessing the sample preparation of biosamples were used, including the isolation of deoxyribonucleic acid (DNA)/ribonucleic acid from various biomaterials, polyacrylamide gel electrophoresis of protein, and database analysis.Results. Inventory and quality control of the collection (n=18390) was carried out, which confirmed the high safety of the biomaterial, regardless of storage period. The mean concentration of DNA was 69,96±6,56 ng/µl, extracellular DNA (ecDNA) — 0,20±0,02 ng/µl, ribonucleic acid — 38,16±5,69 ng/µl. DNA Integrity Number (DIN) >9, RNA integrity number (RIN) >7, A260/280 >1,8 were for all studied samples. Protein electrophoresis demonstrated no degradation of protein zones after longterm storage. The number of errors detected during the inventory was 84 (0,46% of all records in the database), while there were 64 donors with incomplete clinical information (15% of all donors in the collection).Conclusion. The necessity of mandatory implementation of standard operating procedures when creating and maintaining a collection, on the one hand, and periodic inventory with biosample quality assessment, on the other, has been demonstrated.","PeriodicalId":9545,"journal":{"name":"Cardiovascular Therapy and Prevention","volume":"70 ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138982991","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
Bioresource collections: algorithms for development and functioning; basic and applied significance 生物资源收集:开发和运作算法;基础和应用意义
Q3 Social Sciences Pub Date : 2023-12-09 DOI: 10.15829/1728-8800-2023-3654
E. Kosobokova, N. A. Kalinina, M. Baryshnikova, V. Pokrovsky, O. N. Solopova, T. A. Bogush, V. Kosorukov
Bioresource collection of the N. N. Blokhin National Medical Research Center of Oncology is a unique structured biobank that combines different types of primary and subsidiary samples and ensures its comprehensive characterization, including both generally accepted indicators and specific types of research. Samples of paraffin blocks, frozen material, blood and its derivatives are deposited in the clinical department of the center. The research institute of the center has collected commercial and unique human cell lines and transplantable strains obtained from clinical material, as well as cells from laboratory animals, mainly of mouse origin. The provided cell lines undergo multi- stage quality control, including confirmation of authenticity, assessment of viability and determination of optimal cultivation conditions, analysis of interspecific and intraspecific contamination, study of tumorigenicity and reproducibility in athymic Balb/ c-nude mice, etc. In addition, the Bioresource Collection has hybridoma clones that produce antibodies to a wide range of targets. The Center provides the opportunity to conduct preclinical research using samples from the Bioresource Collection to obtain scientific and regulatory data on the antiproliferative activity of new agents or methods for cancer treatment.
Н.Н.布洛欣国家肿瘤学医学研究中心的生物资源库是一个独特的结构化生物库,它将不同类型的原始样本和辅助样本结合在一起,并确保其综合特征,包括公认的指标和特定类型的研究。石蜡块、冷冻材料、血液及其衍生物样本存放在中心的临床部门。该中心的研究所收集了从临床材料中获得的商业和独特的人类细胞系和可移植品系,以及来自实验动物(主要是小鼠)的细胞。所提供的细胞系经过多阶段质量控制,包括确认真实性、评估活力和确定最佳培养条件、分析种间和种内污染、研究肿瘤致病性和在无胸腺 Balb/ c-nude 小鼠中的可重复性等。此外,生物资源中心还拥有能产生多种靶标抗体的杂交瘤克隆。该中心提供了利用生物资源保藏中心的样本进行临床前研究的机会,以获得有关癌症治疗新药或新方法的抗增殖活性的科学和监管数据。
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引用次数: 0
Bioresource collection of blood components from pregnant women to identify fetal genetic features, as well as to search for genetic markers of gestational complications 采集孕妇血液成分的生物资源,以确定胎儿遗传特征,并寻找妊娠并发症的遗传标记
Q3 Social Sciences Pub Date : 2023-12-09 DOI: 10.15829/1728-8800-2023-3742
E. Vashukova, O. A. Tarasenko, O. Talantova, P. Kozyulina, A. V. Morshneva, А. R. Maltseva, O. Pachulia, O. Bespalova, I. Kogan, A. Glotov
Aim. To create collection of plasma and leukocyte blood samples from pregnant women to improve methods of non-invasive prenatal testing, as well as to search for deoxyribonucleic acid markers and study the molecular mechanisms of gestational complications.Material and methods. The collection creation process uses original standard operating procedures. The biomaterial for storage was plasma and leukocytes from the blood of pregnant women.Results. As of July 2023, the collection contains samples of blood plasma and buffy coat suspension from 5814 pregnant women. For 5692 women, whole- genome sequencing of extracellular deoxyribonucleic acid from blood plasma was performed on an Ion GeneStudio S5 system (Thermo Fisher Scientific Inc, USA). Data on cytogenetic examination of fetal material after invasive prenatal diagnosis were collected from 522 women. In 241 cases, samples were obtained from pregnant women with fetuses with a normal karyotype and in 282 cases from pregnant women with fetuses with chromosomal abnormalities. After pregnancy ended with childbirth, data on the course and outcomes of pregnancy were collected from 590 women. In 212 cases, pregnancy was complicated by great obstetrical syndromes. Based on the collection, a previously developed bioinformatic algorithm for non-invasive prenatal analysis was tested on a DNBSEQ-G50 sequencer (MGI, China). The obtained specificity corresponded to the expected one and was >99,9%. The sensitivity of the method is 100%.Conclusion. The created collection, as well as the clinical and genomic data associated with it, is a valuable resource for basic and applied research.
目的收集孕妇血浆和白细胞血样,以改进无创产前检测方法,同时寻找脱氧核糖核酸标记物,研究妊娠并发症的分子机制。采集创建过程采用原始标准操作程序。储存的生物材料是孕妇血液中的血浆和白细胞。截至 2023 年 7 月,采集的样本中包含 5814 名孕妇的血浆和水衣悬浮液样本。在 Ion GeneStudio S5 系统(美国赛默飞世尔科技公司)上对 5692 名孕妇的血浆细胞外脱氧核糖核酸进行了全基因组测序。从 522 名妇女中收集了有创产前诊断后胎儿材料细胞遗传学检查的数据。其中 241 例样本来自染色体核型正常胎儿的孕妇,282 例样本来自染色体异常胎儿的孕妇。妊娠结束分娩后,收集了 590 名妇女的妊娠过程和结果数据。其中 212 例孕妇因严重的产科综合症而导致妊娠并发症。根据收集的数据,在 DNBSEQ-G50 测序仪(MGI,中国)上测试了之前开发的无创产前分析生物信息学算法。得到的特异性符合预期,大于 99.9%。该方法的灵敏度为 100%。所收集的数据以及与之相关的临床和基因组数据是基础研究和应用研究的宝贵资源。
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引用次数: 0
Genogeographic technologies of a population biobank as a tool for assessing selection effects (using the example of pharmacogenetic biomarkers of cardiovascular diseases) 将人口生物库的基因地理学技术作为评估选择效应的工具(以心血管疾病的药物基因生物标志物为例)
Q3 Social Sciences Pub Date : 2023-12-09 DOI: 10.15829/1728-8800-2023-3773
E. V. Balanovskaya, I. Gorin, G. Y. Ponomarev, V. Pylev, R. Belov, E. Pocheshkhova, S. Abdullaev, K. Mirzaev, D. Sychev
Significant differences between the gene pools of Russian peoples require the development of ethno- regional adapted pharmacogenetic tests and the identification of priority regions for their implementation.Aim. To develop a genogeographic technology to identify selection effects using the example of biomarkers that are significant for pharmacotherapy of patients with cardiovascular diseases (CVD), using a population biobank and the Pharmacogenetics of Populations of Russia and Adjacent Countries database.Material and methods. Deoxyribonucleic acid (DNA) samples from the Biobank of Northern Eurasia from 20 metapopulations of the indigenous population of the European Russia were studied using two following data sets: 24 pharmacogenetic markers of CVDs (3170 samples); 1 276 191 polymorphic DNA markers of the autosomal genome (1293 samples). For each data set, estimates of interpopulation variability in the gene pool are provided — the difference between these estimates characterizes the selection pressure on each of the 24 CVD biomarkers. A genogeographic atlas has been created, the maps of which demonstrate the selection pressure on each biomarker according to the degree of deviation from the selective- neutral variability of the gene pool.Results. Twenty-four CVD biomarkers are divided into three following classes: those close to selective- neutral variability, those subject to stabilizing and differentiating selection. For each of the 24 CVD biomarkers, genogeographic maps were created that reveal selection effects in each of the 20 metapopulations. Most maps have identified populations that are under differential selection pressure and therefore a priority for the implementation of ethno- regionally adapted pharmacogenetic protocols.Conclusion. Pharmacogenetic markers and populations under differential selection require the development of ethno- regionally adapted pharmacogenetic tests. The created cartographic atlas of selection can serve as the basis for pharmacogenetic studies carried out using genogeographic methods.
俄罗斯各民族基因库之间的显著差异要求开发适应民族地区的药物基因测试,并确定实施这些测试的优先地区。以对心血管疾病(CVD)患者药物治疗具有重要意义的生物标志物为例,利用人口生物库和俄罗斯及周边国家人口药物遗传学数据库,开发一种基因地理学技术,以确定选择效应。研究人员利用欧亚大陆北部生物库中的脱氧核糖核酸(DNA)样本,这些样本来自俄罗斯欧洲土著居民的 20 个元种群,使用了以下两个数据集:24 个心血管疾病药物遗传标记(3170 个样本);1 276 191 个常染色体基因组多态 DNA 标记(1293 个样本)。对于每个数据集,都提供了基因库种群间变异性的估计值--这些估计值之间的差异表征了 24 种心血管疾病生物标记物中每种标记物的选择压力。我们绘制了一张基因地理地图集,根据基因库选择性中性变异的偏离程度,地图集显示了每种生物标志物的选择压力。24种心血管疾病生物标志物被分为以下三类:接近选择性中性变异的生物标志物、受到稳定选择和分化选择的生物标志物。针对 24 种心血管疾病生物标志物中的每一种,都绘制了基因地理图,揭示了 20 个元种群中每一个种群的选择效应。大多数图谱都确定了处于不同选择压力下的种群,因此需要优先实施适应不同民族和地区的药物遗传学方案。药物基因标记物和处于不同选择压力下的人群需要开发适合不同民族和地区的药物基因测试。绘制的选择地图集可作为使用基因地理学方法进行药物基因研究的基础。
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引用次数: 0
Biobanking in the hospital of a multidisciplinary research medical center as a potential for a wide research range. Part II. Specifics and first results of developing a described collection of biomaterial 多学科研究医疗中心医院的生物库为广泛的研究提供了潜力。第二部分.开发所述生物材料库的具体情况和初步成果
Q3 Social Sciences Pub Date : 2023-12-09 DOI: 10.15829/1728-8800-2023-3799
O. Kopylova, A. Ershova, M. S. Pokrovskaya, A. N. Meshkov, A. I. Borisova, I. Efimova, Z. Z. Serebryanskaya, A. V. Pustelenin, Yu. V. Yuzkov, E. V. Garbuzova, A. M. Velichko, F. R. Sayfutdinov, O. Drapkina
In connection with the development of genetic and other types of research in translational medicine, collections containing a significant number of biospecimens and large data sets are required. Since in-depth examination of patients is most often carried out during hospitalization, the creation of collections based on electronic medical records (EMR) data is promising. In this regard, the project "Total biobanking in the hospital of the National Medical Research Center for Therapy and Preventive Medicine" was initiated, aimed at total biobanking of blood and related products from patients in inpatient departments and the creation of a unified system that combines information on biosamples, clinical and other types of data.Aim. To describe the collection of biospecimens collected within the project "Total biobanking in the hospital of the National Medical Research Center for Therapy and Preventive Medicine" for August 2023, and to analyze the process of biospecimen description.Material and methods. Recruitment of patients is carried out on the basis of inpatient departments of the National Medical Research Center for Therapy and Preventive Medicine, only if the patient signs informed consent. After blood is taken, the biomaterial enters the biobank, where sample preparation and storage is carried out, as well as data about each biosample is entered into a special FreezerPRO system. At the same time, clinical data about the patient is collected using EMR, which are combined in the Medialog medical information system.Results. A special software for data exchange between the medical information system and the biobank has been developed, which combines information about patients entering the Medialog medical information system and the FreezerPro biospecimen management system, which contains detailed information about biospecimens. As of August 25, 2023, biomaterial from 3996 patients was collected, which was accompanied by a detailed clinical summary. In particular, data is available on diagnoses (for 100% of patients), laboratory test data (100%), paraclinical data, in particular, electrocardiography (100%), echocardiography (76,8%), 24-hour Holter monitoring (59,8%), esophagogastroduodenoscopy (27,3%), etc. The most common diseases were hypertension (76,0%), atherosclerosis (69,9%), coronary artery disease (52,9%), arrhythmias (50,6%), diabetes (19,2%). In addition, 25,0% of patients had prior stenting.Conclusion. Total biobanking within the hospital of a multidisciplinary research medical center allows for the rapid and high-quality collection of biomaterial and related data. A collection of biospecimens with comprehensive and detailed clinical annotations has been collected. A primary analysis of the collection was carried, which showed that it can be used for a wide range of studies.
随着基因研究和其他类型转化医学研究的发展,需要收集大量生物样本和大型数据集。由于对病人的深入检查通常是在住院期间进行的,因此基于电子病历(EMR)数据建立样本库是大有可为的。为此,启动了 "国家治疗和预防医学研究中心医院全面生物样本库 "项目,旨在全面收集住院部病人的血液和相关产品,并建立一个将生物样本、临床和其他类型数据信息结合起来的统一系统。描述 2023 年 8 月 "国家治疗和预防医学研究中心医院全面生物样本库 "项目中生物样本的收集情况,并分析生物样本的描述过程。在国家治疗与预防医学研究中心住院部招募患者,但患者必须签署知情同意书。抽血后,生物材料进入生物库,在生物库中进行样本制备和储存,并将每个生物样本的数据输入专门的 FreezerPRO 系统。与此同时,还利用 EMR 收集病人的临床数据,并将这些数据整合到 Medialog 医疗信息系统中。医疗信息系统与生物样本库之间的数据交换专用软件已经开发完成,该软件将输入 Medialog 医疗信息系统的患者信息与包含生物样本详细信息的 FreezerPro 生物样本管理系统结合在一起。截至 2023 年 8 月 25 日,共收集了 3996 名患者的生物样本,并附有详细的临床摘要。其中包括诊断数据(100% 的患者)、实验室检测数据(100%)、辅助临床数据,特别是心电图(100%)、超声心动图(76.8%)、24 小时 Holter 监测(59.8%)、食管胃十二指肠镜检查(27.3%)等。最常见的疾病是高血压(76.0%)、动脉粥样硬化(69.9%)、冠心病(52.9%)、心律失常(50.6%)和糖尿病(19.2%)。此外,25.0%的患者曾接受过支架植入术。多学科研究医疗中心医院内的全生物库可以快速、高质量地收集生物材料和相关数据。收集到的生物样本具有全面、详细的临床注释。对收集的样本进行了初步分析,结果表明这些样本可用于广泛的研究。
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Cardiovascular Therapy and Prevention
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