A5050798964- Lipoproteins and Cardiovascular Health
- Cardiomyopathy and Myosin Studies
- Cancer, Lipids, and Metabolism
- Nutrition, Genetics, and Disease
- Genetic Associations and Epidemiology
- Lipid metabolism and disorders
- Genomics and Rare Diseases
- Healthcare Systems and Public Health
- Diabetes, Cardiovascular Risks, and Lipoproteins
- Cardiovascular Disease and Adiposity
- Congenital heart defects research
- Cardiovascular Health and Disease Prevention
- Cardiac Health and Mental Health
- Human Health and Disease
- Atherosclerosis and Cardiovascular Diseases
- Cardiovascular Health and Risk Factors
- Biomarkers in Disease Mechanisms
- Muscle Physiology and Disorders
- Ethics in Clinical Research
- Health and Medical Research Impacts
- Cystic Fibrosis Research Advances
- Cardiovascular Function and Risk Factors
- Health Systems, Economic Evaluations, Quality of Life
- Blood Pressure and Hypertension Studies
- MicroRNA in disease regulation
National Research Center for Preventive Medicine
2016-2025
Pirogov Russian National Research Medical University
2017-2025
National Medical Research Center of Cardiology
2021-2025
Moscow State University
2025
Lomonosov Moscow State University
2025
Ministry of Health of the Russian Federation
2014-2024
Research Centre for Medical Genetics
2023-2024
Samara State Medical University
2023
Bashkir State Medical University
2023
Federal Research Centre of Nutrition and Biotechnology
2023
The Russian Society of Cardiology (RKO) With the participation of: National for Study Atherosclerosis (NOA), Association Endocrinologists (RAE), Cardiosomatic Rehabilitation and Secondary Prevention (RosOKR), Scientific Medical Therapists (RNMOT), Eurasian Cardiologists, (EAT), Gerontologists Geriatricians
Russian Society of Cardiology, National Preventive Cardiology
.
Familial hypercholesterolemia (FH) is a common autosomal codominant disorder, characterized by elevated low-density lipoprotein cholesterol levels causing premature atherosclerotic cardiovascular disease. About 2900 variants of LDLR, APOB, and PCSK9 genes potentially associated with FH have been described earlier. Nevertheless, the genetics in Russian population poorly understood. The aim this study to present data on spectrum gene cohort 595 index patients FH, as well an additional...
Here, we present a small Russian family, where the index patient received diagnosis of left-ventricular non-compaction cardiomyopathy (LVNC) in combination with skeletal myopathy. Clinical follow-up analysis revealed LVNC phenotype also her son. Therefore, applied broad next-generation sequencing gene panel approach for identification underlying mutation. Interestingly, DES-p.A337P was identified genomes both patients, whereas only carried DSP-p.L1348X. DES encodes muscle-specific...
Aim. To evaluate the information content of genetic risk scores (GRSs) for coronary artery disease (CAD), previously developed on European populations, in representatives Russian population. Material and methods . The work involved 1685 people from ESSE-Ivanovo epidemiological study. CAD was verified 3,1% individuals. composite endpoint assessed annually during 8-year follow-up. Next generation sequencing performed using a targeted panel. Logistic regression analysis area under ROC curve...
Aim. To study and describe the properties of nucleotide sequence variants with incomplete penetrance associated various cardiomyopathies. Material methods . The used data genome from a previously published study. were annotated using Ensembl VEP, as well information gnomAD, ClinVar, dbNSFP databases. Results For all datasets, significant correlations (Spearman correlation coefficient -0,75 to -0,90) population frequency in gnomAD database obtained. Variants low values enriched unknown...
The literature review is devoted to circulating microRNA (small noncoding ribonucleic acid molecules) of blood plasma and serum, potential their use as new biomarkers coronary artery disease (CAD) at various stages. study results demonstrate different levels serum expression in patients with without CAD. In this regard, determination level for minimally invasive diagnosis CAD seems promising, well further prognosis progression. A list microRNAs has been compiled.
The guideline describes the management of outpatient monitoring patients with lipid metabolism disorders by a general practitioner. following is presented: approximate volume and frequency paraclinical investigations, information on diagnosis, treatment prevention disease complications. As practical experience accumulated, guidelines will be adjusted. are intended for practitioners, family doctors, as well mid-level health providers working above-mentioned paramedics performing doctor...
We present a clinical case of familial LMNA-associated cardiomyopathy, confirmed by whole genome sequencing. The typical for lamin-associated cardiomyopathy indicates pathogenic nature the mutation in first exon LMNA gene, previously considered unknown significance. presented demonstrates radical change patient treatment strategies context widespread introduction molecular genetic research methods into practice.
Hypertriglyceridemias are a heterogeneous group of pathologies differing in the mechanisms triglyceride-rich lipoprotein increase, composition lipoproteins and related risks. This review article presents information on profile pathogenesis various primary secondary hypertriglyceridemias, as well describes current potential genetic diagnostics, drug non-drug correction.
Aim. To study the structure of concomitant cardiovascular and comobid pathology, risk factors in patients with arterial hypertension (AH), coronary heart disease (CHD), congestive failure (CHF) atrial fibrillation (AF), to evaluate quality diagnostics treatment conditions real outpatient-polyclinic practice by Registry Ryazanskaya region – a RF high level mortality. Material methods. Into registry RECVAZA (Registry diseases) totally 3690 included AH, CHD, CHF, AF their comorbidity, who...
Elevated level of plasma cholesterol, together with arterial hypertension, is the main modifiable factor cardiovascular diseases (CVD) development. Monitoring lipid levels at populational an important instrument prevention medicine, applied for CVD risk assessment. Aim . Blood assessment, data obatined during epidemiological study "ESSE-RF" (Epidemiology in various regions Russian Federation) 13 Russia. Material and methods. In study, patients were included, 25-64 y.o. All participants...
We performed a targeted sequencing of 242 clinically important genes mostly associated with cardiovascular diseases in representative population sample 1,658 individuals from the Ivanovo region northeast Moscow. Approximately 11% 11,876 detected variants were not found Single Nucleotide Polymorphism Database (dbSNP) or reported earlier Russian population. Most novel singletons and doubletons our sample, virtually no alleles presumably specific for able to reach frequencies above 0.1-0.2%....
Left ventricular noncompaction (LVNC) cardiomyopathy is a disorder that can be complicated by heart failure, arrhythmias, thromboembolism, and sudden cardiac death. The aim of this study to clarify the genetic landscape LVNC in large cohort well-phenotyped Russian patients with LVNC, including 48 families (n=214). All index underwent clinical examination analysis, as well family members who agreed participate and/or testing. testing included next generation sequencing classification...
The prevalence of familial hypercholesterolemia (FH) in Russia has not previously been evaluated. aim our study was to investigate the FH population West Siberian region Russia, and then estimate frequency coronary artery disease (CAD) treatment with cholesterol-lowering medication patients.The sample consisted participants from population-based cohort Epidemiology Cardiovascular Risk Factors Diseases Regions Russian Federation Study (ESSE-RF), conducted Tyumen Kemerovo regions (1,630 1,622...
Mutations in DES, encoding desmin protein, are associated with different kinds of skeletal and/or cardiac myopathies. However, it is unknown, whether DES mutations left ventricular hypertrabeculation (LVHT). Here, we performed a clinical examination and subsequent genetic analysis family, two individuals presenting LVHT conduction disease myopathy. The revealed novel small in-frame deletion within the gene, p.Q113_L115del, affecting α-helical rod domain. Immunohistochemistry explanted...
The research biobanking field is developing rapidly in Russia. Over the course of last decade, numerous biobanks were created or formed from existing collections human and environmental biospecimens. Russian National Association Biobanks Biobanking Specialists (NASBIO) was established December 2018, aiming to: (1) unite professionals centers to create develop a network Russia; (2) provide services expertise biobanking; (3) execute various projects utilizing biobanks' infrastructure; (4)...
About 50% of patients with arrhythmogenic cardiomyopathy (ACM) carry a pathogenic or likely mutation in the desmosomal genes. However, there is significant number without positive familial anamnesis. Therefore, molecular reasons for ACM these are frequently unknown and genetic contribution might be underestimated. Here, we used next-generation sequencing (NGS) approach addition single nucleotide polymor-phism (SNP) arrays analysis two independent index medical history. Of note, this strategy...
Aim. To investigate the association of 10 circulating plasma microRNAs with collateral flow degree in chronic total occlusion (CTO) patients coronary artery disease (CAD). Materials and methods. Plasma expression levels miRNAs were measured by real-time PCR using Taqman technology a sample 43 subjects. The study included CAD CTO good (n=13) or poor (n=10) circulation (CCC) based on Rentrop classification control group without significant stenosis (n=20). Results. Significant differences...
Solid organ transplantation has increased in frequency the United States, having evolved from an area of experimentation into accepted therapy for end-organ failure. As become more common, average age transplant recipients increased, thus increasing potential multiple comorbidities including coronary artery disease (CAD). CAD been shown to be a major cause morbidity and mortality kidney, lung liver recipients. Identification solid candidates allows stratification short- long-term risk,...
Aim. Russian multicenter register of familial hypercholesterolemia (FH) was transformed into Register patients with FH and very high cardiovascular risk insufficient effect hypolipidemic therapy (RENESSANS Registry) in 2017 The aim RENESSANS maximal inclusion not only FH, but also those atherosclerotic diseases (CVD), who did achieve targeted level low density lipoprotein cholesterol (LDL-C) using drug therapy. Material methods. Registry is an open, national, observing study that includes...
Heterozygous familial hypercholesterolemia (HeFH) is one of the most common genetic conditions but remains substantially underdiagnosed. The aim our study was to investigate prevalence HeFH in population 11 different regions Russia. Individuals were selected from Epidemiology Cardiovascular Risk Factors and Diseases Regions Russian Federation Study. All participants who had low-density lipoprotein cholesterol (LDL-C) higher than 4.9 mmol/L, or LDL-C lower statin therapy, additionally...
Aim. To analyze the structure of clinical data, as well principles collecting and storing related data biobank National Medical Research Center for Therapy Preventive Medicine (hereinafter Biobank). Material methods . The analysis was carried out using documentation available in Biobank, databases used its work. paper presents on biosamples Biobank August 18, 2021. Results. At time analysis, had 373547 samples collected from 54192 patients within 37 research projects. article representation...