Aim. To present an approach to collection of biosamples of patients with rare and scientifically interesting clinical situations for solving the problems of personalized medicine, as well as to analyze related 8-year experience.Material and methods. The approach and a collection of biosamples of blood and its derivatives is developed at the National Medical Research Center for Therapy and Preventive Medicine within the project "Interesting Cases at the National Medical Research Center for Therapy and Preventive Medicine". The collection of biomaterial from project patients was carried out on a planned basis with the inpatient department, as well as upon referral from outpatient doctors. All included patients signed informed consent. Each biosample is accompanied by an extensive annotation, including socio-demographic, clinical, genetic and other types of data. The article presents the project results as of August 12, 2024.Results. An expert group developed 15 disease groups and related inclusion criteria. At the time of analysis, 4525 inpatients and outpatients were included in the project. Positive changes in the number of people included annually is noted. Genetic testing was performed on >2500 patients. The proposed approach allows solving a wide range of clinical and research problems in personalized medicine as follows: timely diagnosis or clarification; formation of patient cohorts to study the genetic aspects of diseases; identification of new genetic variants of hereditary diseases; development of genetic diagnostic panels; study of rare diseases; reduction of sample creation time in case of novel scientific ideas.Conclusion. The proposed approach to the collection and preservation of biosamples and related clinical, socio-demographic, genetic and other types of data in patients with rare clinical cases of scientific interest is important and effective for solving practical and research problems of personalized medicine. The algorithm is well developed, standardized and easily implemented within the clinics, regardless of their size. Preanalytical phase standardization creates the prerequisites for multicenter national and international cooperation.

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.

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.

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.

Familial hypercholesterolemia (FH) is a highly atherogenic, genetically based lipid disorder. For patients with FH, dietary modification is the cornerstone of complex lipidlowering therapy. The aim of the research was to assess the actual nutrition in adults with familial hypercholesterolemia. Material and methods. The study included 100 patients over 18 years old (including 46% men) with "probable" or "definite" FH according to the Dutch Lipid Clinic Network or Simon Broome criteria from the GENMOTIV-FH study (ClinicalTrials: NCT04656028) in 2019-2021. Actual nutrition was assessed using the 24-hour dietary recall method. The frequency of the main meal groups' consumption and food-related behavior were assessed using a questionnaire method. The data are presented as the median [Q25; Q75]. Results. The study showed the excess consumption of protein (19.3 [16.7; 24.0] in men and 18.6% [13.6; 24.3] in women, p=0.592), total fat (35.1 [29.4; 41.0] in men vs 39.2% [33.2; 47.5] in women, p=0.018), including saturated fatty acids (9.6 [4.7; 13.0] vs 10.4% [7.5; 14.2], respectively, p=0.151), and cholesterol (265.8 [188.8; 521.9] mg/day in men vs 282.1 [147.2; 542.8] mg/day in women, p=0.936). Consumption of total carbohydrates (44.3 [37.2; 50.0] vs 39.6% [30.1; 48.8], respectively, p=0.100) and fiber (10.7 [7.3; 13.3] g/day in men vs 11.5 [7.9; 13.9] g/day in women, p=0.372) was insufficient. Only 47.9% of patients consumed vegetables daily, 39.1% - fruits and berries. The majority (64.5%) of patients with FH preferred high-fat cheese (>=25%). Cottage cheese of >=5% fat content preferred 52.7% of patients. The daily poultry consumption was more than red meat (19.3 vs 4.3% respectively, p=0.003). Regularly included fish in their meal 53.8% of patients. Conclusion. The actual nutrition in adults with FH does not match international guidelines. The results highlight the importance of dietary interventions for patients with FH.

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 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.

Министерство здравоохранения Российской ФедерацииФедеральное государственное бюджетное учреждение «Национальный медицинский исследовательский центр терапии и профилактической медицины» Российское общество профилактики неинфекционных заболеваний «УТВЕРЖДАЮ» академик РАН, профессор, директор ФГБУ «НМИЦ ТПМ» Минздрава России, главный внештатный специалист по терапии и общей врачебной практике Минздрава России

Цель. Целью исследования явилась оценка эффективности и приверженности гиполипидемической терапии, частоты развития сердечно-сосудистых осложнений у пациентов с гомо- и гетерозиготной семейной гиперхолестеринемией (СГХС) в течение пятилетнего периода наблюдения в регистре РЕНЕССАНС (Регистр пациентов с СГХС и пациентов очень высокого сЕрдечно-Сосудистого риска с недоСтАточной эффективНоСтью, проводимой гиполипидемической терапии). Материал и методы. РЕНЕССАНС является открытым, национальным, наблюдательным исследованием и включает больных с СГХС. Учитывали наличие факторов риска атеросклероза, анамнез сердечно-сосудистых заболеваний, гиполипидемическую терапию. В каждом центре выполняли определение концентрации: общего холестерина, триглицеридов, холестерина липопротеидов высокой плотности в сыворотке крови. Содержание холестерина липопротеидов низкой плотности (ХС ЛНП) рассчитывали по формуле Фридвальда. В некоторых центрах проводили измерение уровня липопротеида(а). При оценке частоты конечной точки, включавшей фатальные и нефатальные сердечно-сосудистые осложнения (ССО), проводили анализ Каплана-Майера. Результаты. В регистр включено 17 больных с гомозиготной СГХС (средний возраст 22±13 лет, 65% женского пола, 29% дети) и 2288 пациентов с гетерозиготной СГХС (48±16 лет, 57% женского пола, 6% дети). В группе гомозиготной СГХС за период наблюдения 74±13 месяцев ССО зарегистрированы у 5 (29%) пациентов, многокомпонентную гиполипидемическую терапию получали 94% и ни один больной не достиг целевого уровня ХС ЛНП. В группе гетерозиготной СГХС динамическое наблюдение проведено у 1067 (47%) пациентов в течение 32±27 месяцев, конечная точка зарегистрирована у 10% больных. Мужской пол (относительный риск 1,7; 95% доверительный интервал 1,2-2,6 p<0,01), гипертония (3,8; 2,3–6,2; p<0,001), ишемическая болезнь сердца (9,3; 5,6–15,3; p<0,001), отягощенный анамнез по сердечно-сосудистым заболеваниям (ССЗ) (2,6; 1,5–4,5; p<0,001) и концентрация липопротеида(а)≥30 мг/дл (2,2; 1,0–4,7; p<0,05) явились предикторами развития ССО. Частота назначения трехкомпонентной гиполипидемической терапии с ингибиторами PCSK9 возросла с 2 до 9%, а достижение целевого уровня ХС ЛНП − с 2 до 14% (р <0,001 для обоих). Заключение. Пятилетнее наблюдение за участниками регистра РЕНЕССАНС демонстрирует увеличение использования многокомпонентных схем лечения. Мужской пол, гипертония, ишемическая болезнь сердца, отягощенный анамнез по ССЗ и концентрация липопротеида(а) ≥30 мг/дл остаются ведущими факторами, ассоциированными с увеличением риска развития ССО.

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.

Background and Aims : In the National Medical Research Center for Therapy and Preventive Medicine (NMRC TPM) the collaboration between clinic and biobank for collection of biospecimens was organized. Aim: To analyze results of new scheme of collection of biospecimens from patients with dyslipidemias in frame of the project "Interesting and rare clinical cases".Methods: Special criteria were developed for patient selection: total cholesterol >8 mmol/l, triglycerides (TG) >5.6 mmol/l, LDL-C >4.9 mmol/l or <1.5 mmol/l without lipid-lowering therapy, HDL-C <0.7/0.8 mmol/l in men/women, HDL-C ≥2.5/3.0 mmol/l in men/women, Lp(a) >30 g/l, patient has cutaneous or tendom xanthomas. The medical inpatient and outpatient records from 2016 June were analyzed. Eligible patients signed informed consent and donated blood samples which were prepared and stored in the biobank.Results: In total 8112 biospecimens (plasma, serum, whole blood) from 507 patients with dyslipidemias have been collected to the moment. The maximum lipid levels were: LDL-C 14.74, HDL-C 3.1, TG 70.9 mmol/l, Lp(a) 355 mg/dl; the minimum: LDL-C 0.38, HDL-C 0,18 mmol/l. There are 47 patients with TG >10 mmol/l, 98 patients with low HDL-C, 319 patients with LDL-C >4.9 mmol/l, among them 233 patients with familial hypercholesterolemia. Detailed clinical information is collected for each biospecimen, structured and saved according to current international standards and rules. Such approach gives opportunities for research of monogenic and polygenic dyslipidemias, new biomarkers of atherosclerosis etc.Conclusions: Collaboration of different structures: clinic and biobank may be an effective for research in the field of dyslipidemias and atherosclerosis. Background and Aims : In the National Medical Research Center for Therapy and Preventive Medicine (NMRC TPM) the collaboration between clinic and biobank for collection of biospecimens was organized. Aim: To analyze results of new scheme of collection of biospecimens from patients with dyslipidemias in frame of the project "Interesting and rare clinical cases". Methods: Special criteria were developed for patient selection: total cholesterol >8 mmol/l, triglycerides (TG) >5.6 mmol/l, LDL-C >4.9 mmol/l or <1.5 mmol/l without lipid-lowering therapy, HDL-C <0.7/0.8 mmol/l in men/women, HDL-C ≥2.5/3.0 mmol/l in men/women, Lp(a) >30 g/l, patient has cutaneous or tendom xanthomas. The medical inpatient and outpatient records from 2016 June were analyzed. Eligible patients signed informed consent and donated blood samples which were prepared and stored in the biobank. Results: In total 8112 biospecimens (plasma, serum, whole blood) from 507 patients with dyslipidemias have been collected to the moment. The maximum lipid levels were: LDL-C 14.74, HDL-C 3.1, TG 70.9 mmol/l, Lp(a) 355 mg/dl; the minimum: LDL-C 0.38, HDL-C 0,18 mmol/l. There are 47 patients with TG >10 mmol/l, 98 patients with low HDL-C, 319 patients with LDL-C >4.9 mmol/l, among them 233 patients with familial hypercholesterolemia. Detailed clinical information is collected for each biospecimen, structured and saved according to current international standards and rules. Such approach gives opportunities for research of monogenic and polygenic dyslipidemias, new biomarkers of atherosclerosis etc. Conclusions: Collaboration of different structures: clinic and biobank may be an effective for research in the field of dyslipidemias and atherosclerosis.

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.

Abstract Funding Acknowledgements Type of funding sources: None. Introduction Low adherence to healthy lifestyle and CVD preventive medical treatment is a seriouse problem in lowering of CVD morbidity and mortality. Using modern medical, psychological and remote technologies may help to increase patients" adherence. Purpose To study the efficacy of medical and psychological counselling using remote technologies in rising patients" adherence to CVD preventive treatment. Methods The study included 140 patients with risk factors for cardiovascular disease (RF CVD), who were divided into two comparable groups: group of medical and psychological counselling with the use of remote technologies (n = 70) and group of control (n = 70). The study lastet 12 months. Level of adherence was measured via standard Morisky-Green"s 4-item questionnaire as well as via additional questionnaire developed by authors for this study. Results Comparative analysis of the level of adherence in the two groups did not reveal statistically significant differences at baseline. After 12 months, the experimental group showed a statistically significant increase in adherence to preventive treatment compared with the control group (р=0,001) Conclusion(s) Medical and psychological counselling using remote technologies is an effective method for rising patients" adherence to CVD preventive medical treatment

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.

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.

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.