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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.

Aim. To validate and evaluate the accuracy of 14 genetic risk scores (GRSs) for type 2 diabetes (T2D), created earlier in other countries, using a Russian population sample from the biobank of the National Medical Research Center for Therapy and Preventive Medicine.Material and methods. For genetic analysis, next generation sequencing data was used on a sample from the Russian population (n=1165) based on the biobank collection. The study included 14 GRSs associated with T2D.Results. The study demonstrated that the predictive power of 12 out of 14 GRSs for T2D was replicated in the Russian population. As quality metrics, we used the area under the ROC curve, which for models including only GRS varied from 54,49 to 59,46%, and for models including GRS, sex and age — from 77,56 to 78,75%.Conclusion. For the first time in Russia, a study of 14 T2D GRSs developed on other populations was conducted. Twelve GRSs have been validated and can be used in the future to improve risk prediction and prevention of T2D in Russia.

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.

Aim. To develop an algorithm and manage total biobanking of samples of whole blood, serum and plasma of patients in the hospital of the National Medical Research Center for Therapy and Preventive Medicine in order to create a detailed biosample collection through the integration of electronic medical records and a biobank database.Material and methods. The study includes all patients admitted to the hospital of the National Medical Research Center for Therapy and Preventive Medicine in various departments who signed informed consent for biobanking. Clinical information is collected as part of patient examination and stored in electronic medical records in the Medialog medical information system. Biobanking of blood and related products is carried out in accordance with standard operating procedures. From each patient, 12 aliquots of serum and blood plasma are stored, as well as 1 tube of whole blood with ethylenediaminetetraacetic acid potassium salt. Information about biospecimens, patient identification numbers and storage location coordinates are contained in the biobank database.Results. An algorithm for total biobanking of biomaterial and data from inpatients has been developed and put into practice. This collection is associated with large biomedical data stored in a medical information system, laboratory information system and biobank. The combined databases make it possible to search for samples in the collection according to specified criteria.Conclusion. The collection developed can be used for a wide range of studies by forming patient samples according to the necessary criteria. The developed algorithm for total biobanking in a hospital can be used in various medical centers equipped with biobanks.

Aim. To validate and evaluate the accuracy of 15 genetic risk scores (GRSs) for obesity, created in populations of European origin in the sample of two European Russia regions. Material and methods. Genetic testing has been performed using next generation sequencing on a sample from the Russian population (n=1179). The study included 15 GRS associated with body mass index (BMI) or waist-to-hip ratio adjusted for BMI (WHRadjBMI).Results. The predictive power of 8 out of 9 GRSs for obesity based on BMI remains the same for the Russian population. The predictive power of 6 GRSs for obesity based on WHRadjBMI is lower in the Russian population than in the reference sample. GRS reproducibility increases with the size of initial samples and number of variants included in the GRS increase. The use of GRSs for obesity based on BMI in the Russian population created on European populations is justified.Conclusion. For the first time in Russia, 15 obesity GRSs developed in European populations have been validated. The data obtained on the effectiveness of the considered GRS can be used in the future to improve the obesity prediction and prevention in Russia.

Aim. To characterize patients receiving PCSK9 inhibitors, and assess the efficiency of their treatment in a specialized lipid center.Material and methods. A retrospective analysis of the medical records of patients who visited the Lipid clinic of the National Medical Research Center for Therapy and Preventive Medicine (Moscow, Russia), receiving PCSK9 inhibitor and having lipid profile in dynamics, was carried out (n=77). Cardiovascular risk (CVR) and low-density lipoprotein cholesterol (LDL-C) target levels were evaluated in accordance with the Russian guidelines for the diagnostics and correction of dyslipidemias 2020.Results. Of 77 patients taking PCSK9 inhibitors (44.2% males, the median of age 56 [47; 66] years), the majority (64.0%) had a probable or definite familial hypercholesterolemia (FH). The proportion of other lipid metabolism disorders, pure hypercholesterolemia and combined hyperlipidemia was 21% and 15%. More than half of the patients (68.8%) had a very high CVR, mainly due to the presence of coronary heart disease (84.9%). The proportion of patients receiving PCSK9 inhibitors as monotherapy was 7.8%, in combination with high-intensity statin therapy – 33.8%, as part of triple lipid-lowering therapy (high-intensity statin, ezetimibe, PCSK9 inhibitors) – 50.6%. Addition of PCSK9 inhibitors to combined lipid-lowering therapy enabled to reduce the LDL-C level to 1.02 [0.62; 1.39] mmol/l with its total decrease from the baseline by 87.3%. While taking PCSK9 inhibitors, LDL-C

Despite significant progress in the development of novel methods for the prevention and treatment of cardiovascular diseases, their prevalence remains high, which is largely due to low adherence of patients to drug and non-drug preventive interventions. Motivational counseling (MC) is a unique technology that makes it possible to activate the patient’s desire to change their behavior towards a healthy one. The review presents an analysis of the literature on MC technology and the possibilities of its application in cardiology practice. Research data show the effectiveness of MC in improving the nutrition profile, physical activity, weight loss, smoking cessation, control of glycated hemoglobin in patients with diabetes, improving outcomes in patients with heart failure, increasing adherence to therapy, etc. Conducting MC using telemedicine technologies seems promising. The training of specialists is of paramount importance, since the effectiveness of this type of counseling largely depends on the accuracy of the consultant’s adherence to the essence and technologies of MC.

Biosample preservation for future research is a fundamental component of translational medicine. At the same time, the value of stored biosamples is largely determined by the presence of related clinical data and other information. Electronic medical records are a unique source of a large amount of information received over a long period of time. In this regard, genetic and other types of data obtained from the biosample analysis can be associated with phenotypic and other types of information stored in electronic medical records, which pushes the boundaries in large-scale genetic research and improves healthcare. The aim of this review was to analyze the literature on the potential of combining electronic medical records and biobank databases in research and clinical practice.

Aim. To analyze the structure of clinical data, as well as the principles of collecting and storing related data of the biobank of the National Medical Research Center for Therapy and Preventive Medicine (hereinafter Biobank).Material and methods. The analysis was carried out using the documentation available in the Biobank, as well as the databases used in its work. The paper presents clinical data on biosamples available in the Biobank as of August 18, 2021.Results. At the time of analysis, the Biobank had 373547 samples collected from 54192 patients within 37 research projects. The article presents the analysis of data representation and quantitative assessment of the presence/absence of common diagnoses in clinical projects. Approaches to documenting clinical information associated with biological samples stored in the Biobank were assessed. The methods and tools used for standardization and automation of processes used in the Biobank were substantiated.Conclusion. The Biobank of the National Medical Research Center for Therapy and Preventive Medicine is the largest research biobank in Russia, which meets all modern international requirements and is one of the key structures that improve the research quality and intensify their conduct both within the one center and in cooperation with other biobanks and scientific institutions. The collection and systematic storage of clinical abstracts of biological samples is an integral and most important part of the Biobank’s work.

Intensive investigation of cardiovascular disease (CVD) risk factors (RFs), both traditional (smoking, dyslipidemia, diabetes, etc.) and non-traditional, which are a component of the so-called exposome, as well as their non-drug and drug correction provide wide prospects for effective cardiovascular prevention. Prevention becomes the dominant trend in cardiology and in medicine in general. The aim of the article was to describe cardiovascular prevention in young, middle, elderly and senile age. Due to the multifaceted nature of cardiovascular RFs, an integrated biopsychosocial approach, individual and population-based prevention, cumulative risk assessment of all CVDs, intersectoral collaboration and the involvement of decision-makers, are key to the success and effectiveness of prevention measures. It is important to note that, on the one hand, preventive measures should be started as early as possible due to cumulative effect of RFs, on the other hand, most of the preventive interventions for CVD are extremely relevant at all life stages.

In recent years, researchers have increasingly noted that the development and health of cardiovascular system is influenced by both traditional risk factors (RF) and other determinants of human exposome — a combination of factors of the external and internal environment that affect genetics and epigenetics, as a result of which, one or another (more or less healthy) phenotype is formed. Exposome components have a continuous effect throughout all periods of life. Many RFs have a cumulative effect, and therefore it is important to start prevention of cardiovascular diseases (CVDs) as early as possible. The aim of this review was to consider various aspects of CVD prevention in childhood and adolescence. These periods are critical for the development of most behavioral habits, which maintain throughout life. Leading by personal example by parents and the immediate environment plays a paramount role in healthy lifestyle inclusion of children and adolescents. Targeted programs in kindergartens and schools aim at improving health literacy, early detection and timely changing traditional and non-traditional CVD RFs, diagnosis of genetic diseases involving the heart and blood vessels, prevention of sudden cardiac death are also important methods of CVD prevention in childhood and adolescence. Measures of population-based prevention are of great importance, including monitoring of advertising and media content, statutory ban of alcohol and tobacco sale, and the formation of healthy lifestyle.

Current prophylactic actions prevent or significantly delay the majority of cardiovascular diseases (CVD). Various factors are interconnected and affect a person throughout his life, determining the risk of CVD. This indicates the need for preventive measures at all stages of life and even before birth. The beneficial effects of CVD prevention are realized through various genetic, epigenetic and metabolic mechanisms. Due to the fact that many risk factors for CVD have a cumulative effect, the introduction of preventive measures from the earliest life stages will be most effective. The purpose of the article is to consider various aspects of CVD prevention in the preconceptional, prenatal and infant periods.