The aim of the study. Molecular genetic studies of familial hypercholesterolemia (FH) have been conducted in different regions of the Russian Federation for several decades. However, limited ethnic diversity in patient samples does not permit a comprehensive assessment of the full spectrum of gene variability responsible for FH development in the Russian population. The aim of this study was to characterize the molecular heterogeneity of the LDLR and APOB genes in patients with FH phenotype in the Republic of Sakha (Yakutia).
Material and methods. A group of 48 patients with FH was enrolled at the Department of Lipid Disorders, Republican Clinical Hospital No. 3, Yakutsk. FH diagnosis was established using the Dutch Lipid Clinic Network (DLCN) Criteria. All patients underwent clinical examination, ultrasonographic evaluation, and blood sampling for biochemical and molecular genetic analyses. Molecular variants in index patients and segregation analysis in available family members were identified using direct automated Sanger sequencing of the LDLR gene promoter and all exons, as well as exon 26 of the APOB gene.
Results. Pathogenic variants in the LDLR gene were identified in three index patients with the FH phenotype. Segregation analysis in families of index patients identified three additional carriers of the rs121908038 variant among first-degree relatives. Based on direct automated sequencing of exon 26 of the APOB gene, a pathogenic variant (rs5742904) was identified in one index patient and three of his first-degree relatives.
Conclusions. Molecular genetic analysis of the LDLR gene and exon 26 of the APOB gene in patients with the FH phenotype from the Republic of Sakha (Yakutia) identified pathogenic variants in two genes. Heterozygous familial hypercholesterolemia was confirmed in index patients and segregated among first-degree relatives. These findings underscore the importance of genetic testing and family screening in FH diagnosis and management.

Objective. To evaluate the dynamics of atherosclerotic changes in the main, coronary and peripheral arteries and biochemical parameters of the lipid profile in patients with obstructive sleep apnea syndrome (OSAS) depending on the severity of respiratory disorders and to study their possible impact on the clinical prognosis.
Material and methods. The study included 60 male railway workers with obesity and arterial hypertension. Based on the results of the polysomnographic study, the participants were divided into 2 groups: the first consisted of workers with an apnea/hypopnea index (AHI) ≤ 15 per hour, the second – with AHI> 15 per hour. All participants initially underwent biochemical lipid profile determination, ultrasound Dopplerography of the brachiocephalic arteries (BCA) and arteries of the lower extremities, functional load tests and, if indicated, coronary angiography. Then, the patients were monitored for 3 years and the clinical outcomes were retrospectively assessed: cardiovascular mortality, nonfatal myocardial infarctions, strokes, rehospitalizations due to cardiovascular diseases, the need for surgical revascularization and registration of cases of newly diagnosed diabetes mellitus were also taken into account.
Results. Statistically significant differences were found between the study groups in the main parameters of the lipid profile with a predominance of its atherogenic fractions in the second group: LDL-С (p = 0.01 [95 % CI: –0.86; –0.11]), TG (p = 0.04 [95 % CI: –0.89; 0.09]) and non-HDL-С (p = 0.03 [95 % CI: –0.67; –0.04]). The frequency of diabetes mellitus, manifestations of coronary atherosclerosis, atherosclerosis of the brachiocephalic arteries, multifocal atherosclerosis, and repeated hospitalizations was also significantly higher in the second group. The highest prognostic value for the risk of developing systemic atherosclerosis was demonstrated by the AHI, LDL-С level, and METS-IR insulin resistance index.
Conclusions. The severity of sleep breathing disorders is associated with laboratory and clinical signs of atherosclerosis progression, which indicates a pathogenetic relationship between OSA and atherosclerosis.

Objective – to evaluate the long-term (10-year) safety and efficacy outcomes of the domestic sirolimus-eluting stent Calypso compared with the Xience Prime stent in patients with acute coronary syndrome (ACS) under real-world clinical conditions.
Material and methods. A total of 274 patients with ACS were initially enrolled in this prospective multicenter study. Patients were divided into two groups: the first group included 140 patients who received the Calypso stent, and the second group included 134 patients who received the Xience Prime stent. At the 10-year follow-up, complete data were available for 191 patients (69.7 %): 98 in the Calypso group and 93 in the Xience Prime group. The primary endpoint was the composite rate of major adverse cardiac events (MACE).
Results. Over the 10-year follow-up period, the incidence of MACE was 31.6 % in the Calypso group versus 34.4 % in the Xience Prime group (hazard ratio [HR] 0.91; 95 % confidence interval [CI] 0.58–1.43; p = 0.68). No statistically significant differences were observed between groups in any individual MACE components. The rate of restenosis requiring repeat stenting was 4.1 % and 7.5 % in the Calypso and Xience Prime groups, respectively (p = 0.29).
Conclusions. The Calypso sirolimus-eluting stent demonstrates long-term clinical efficacy and safety comparable to those of the Xience Prime stent in patients with acute coronary syndrome.

The aim of the study was to examine the relationships between adipokine levels and elevated low-density lipoprotein cholesterol (LDL-C) in individuals aged 25–44 years, with and without abdominal obesity (AO).
Material and methods. The study included individuals aged 25–44 years, divided into groups based on the presence/absence of AO and LDL-C levels. Anthropometric parameters, lipid profile (LDL-C, HDL-C, TG, total cholesterol), carbohydrate metabolism markers, and concentrations of certain adipokines were assessed. Statistical data processing was performed using the SPSS 13.0 software package.
Results. In all groups of individuals with LDL-C ≥ 3.0 mmol/L, atherogenic changes in the lipid profile, increased blood pressure and glucose levels were observed; however, the severity of concomitant metabolic disorders depended on the presence of AO. Levels of plasminogen activator inhibitor type 1 (PAI-1) (OR 1.010, 95 %, CI 1.000–1.019, p = 0.047) and C-peptide (OR 1.262, 95 %, CI 1.053–1.512, p = 0.012) demonstrated statistically significant associations with elevated LDL-C, regardless of WC. However, when including both molecules in the model, associations were obtained only for C-peptide (OR 1.416, 95 %, CI 1.079–1.858, p = 0.012) and age (OR 1.038, 95 %, CI 1.011–1.065, p = 0.006).
Conclusions. Young individuals with LDL-C ≥ 3.0 mmol/L are more likely to exhibit signs of metabolic dysfunction and abnormal visceral adipose tissue activity, manifested by elevated adipocytokines. In young individuals, the risk of having hyperLDL-C is associated with increasing age and elevated C-peptide and PAI-1 levels, regardless of gender or the presence of AO.

Research objective: to study the process of improving the quality of organisation and provision of preventive medical services during checkups of certain groups of the adult population and preventive medical examinations (PME) at the regional level in order to reduce mortality among the adult population from cardiovascular diseases (CVD) using the example of the Novosibirsk Region.
Methods. In July 2023, a pilot (qualitative) stage of the study was conducted, including personal formalised interviews with 99 employees of four medical organisations in the Novosibirsk Region. Respondents were divided into four categories: management (chief physicians, deputies), members of the internal quality control commission, general practitioners (including paramedics acting as physicians) and nursing staff. The research tools were developed by the Federal State Budgetary Institution ‘Central Research Institute of Organisational and Information Technologies’ of the Ministry of Health of Russia.
Results. Key problems were identified such as low patient turnout (90.9 % according to managers), insufficient awareness of regulatory documents among medical workers (only 18.2 % of personnel named all relevant orders), gaps in staff knowledge and skills (especially in district services compared to preventive departments), as well as frequent violations in documentation identified by the quality commission (low percentage of referrals to the second stage of the checkup – 62.5 %, errors in questionnaires – 50.0 %). The following measures were recognised as effective in improving the situation: training of employees (54.5 %), creation of a convenient schedule for completing the checkup in one day (54.5 %), and active public information (63.6 %).
Conclusions. Despite a general understanding of the objectives of the checkup and medical examination, their implementation is hampered by systemic problems, including staff shortages, lack of time, insufficient staff training and low public motivation. To increase the effectiveness of preventive measures and reduce mortality from CVD, it is necessary to introduce a compulsory subject on preventive medicine into educational programmes at medical institutions and develop practical training courses for all participants in the process.

Surfactant protein D (SP-D), traditionally considered in the literature as a marker of acute and chronic bronchopulmonary diseases, is also associated with cardiometabolic disorders. Both from the standpoint of molecular mechanisms of action and in terms of the few available clinical studies, the cardiometabolic effects of SP-D remain poorly understood. At the same time, given the relevance of atherosclerosis and metabolic disorders, scientific interest in SP-D remains high. SP-D indirectly promotes the secretion of tumor necrosis factor (TNF-α) and interferon gamma (IFN-γ), exerting a proinflammatory effect, and by binding to lipids, affects atherogenesis. The purpose of the literature review was to systematize modern knowledge about SP-D as a promising marker of cardiometabolic disorders. The article highlights the results of recent studies that allow us to clarify and supplement the already known mechanisms of action of SP-D, as well as to determine the role of SP-D in atherogenesis and metabolic disorders. The search for relevant information on the topic of the article was performed in the search engines PubMed, Google Scholar, and in the scientific electronic library eLibrary.ru. The search depth was 35 years: from 1990 to 2025. Full-text original scientific articles, open-access literature reviews in English and Russian were selected that corresponded to the stated topic. The following tags were used for the search in English and in Russian: «SP-D», «Surfactant protein D» including in combination with the following tags «Atherosclerosis», «Atherosclerotic plaque», «Coronary artery disease», «Peripheral artery disease», «Dyslipidemia», «Metabolic Disorders», «Hypertension», «Diabetes», «Obesity». A total of 40 foreign and domestic publications were subjected to critical analysis. A literature review demonstrated the potential role of SP-D as a cardiometabolic marker and a marker of cardiovascular prognosis in patients with coronary heart disease (CHD), chronic obstructive pulmonary disease (COPD), diabetes mellitus type 2 (T2DM), obesity, peripheral artery disease (PAD) and in hemodialysis patients.

Peripheral artery disease is a manifestation of atherosclerosis, which can affect the arteries of the lower limbs. The most dangerous complication is chronic threatening ischemia of limbs. Without KIC revascularization often leads to limb loss. However, neither open surgical revascularization nor endovascular treatment provides long-term success and freedom from restenosis and failure of revascularization.
The aim of this literature review is to identify possible predictors of adverse results of endovascular revascularization of the lower extremities and possible strategies for their prevention.
Materials and methods. A systematic search of publications in PubMed, Scopus, Web of Science and eLibrary databases for the period 2020-2025 was carried out. Keywords used: «critical ischemia», «revascularization», «occlusion», «amputation», «disease of peripheral arteries», «restenosis». Selected and analyzed 56 sources that meet the inclusion criteria.
Results. The review analysed comprehensive approaches to APL treatment, including endovascular and surgical revascularization methods. Special attention is paid to the problem of restenosis and recurrent thrombotic events. Antithrombotic and lipid-lowering therapy after surgical interventions was evaluated.
Conclusions. A personalized approach, including surgical and medication treatments as well as digital solutions, is a promising way to improve the effectiveness of APS treatment and patient prognoses.

Relevance. The problem of dyslipidemia remains one of the most important in many countries, including the Russian Federation. The proportion of patients with familial hypercholesterolemia who have reached the target LDL level does not exceed 2 %; the target levels of lipid profile indicators in primary and secondary prevention of cardiovascular diseases are achieved in only 26 % of cases, which is associated with the prescription of incorrect statin doses; the absence of combination therapy with ezetimibe; extremely rare prescription of PCSK9 inhibitors and/or bempedoic acid due to lack of proper experience with their use and the novelty of these drugs; and insufficient awareness among doctors and patients about the need to achieve the target LDL level [1]. A systematic search of publications was conducted in the PubMed, Scopus, Web of Science, and eLibrary databases for the period 2018–2025. The following keywords were used: low-density lipoproteins, bempedoic acid, lipid profile target values. More than 100 sources meeting the inclusion criteria were selected and analyzed. Objective of the review: to systematize and critically analyze current approaches to non-pharmacological and pharmacological management of dyslipidemias with a focus on personalized therapeutic strategies and the integration of modern approaches into clinical practice.
Results. The review discusses current pharmacological and non-pharmacological methods for treating dyslipidemia, such as treatment with statins, fibrates, PCSK9 inhibitors, and changes in dietary habits. Particular attention is given to the role of bempedoic acid due to the limited experience with its use in combined lipid disorder management.
Conclusions. The implementation of combination therapy for the correction of dyslipidemia is a promising approach to improving treatment effectiveness and patient outcomes. Further integration of non-drug interventions into clinical practice and addressing the accessibility of new treatment methods are necessary.

The aim of this work is to provide a comprehensive review of the structural and functional organization of the MTTP gene and the microsomal triglyceride transfer protein (MTP) it encodes, to characterize its pathogenic variants, and to describe the molecular mechanisms of their action. The MTP is a key regulator of lipid metabolism that is required for the assembly and secretion of apoB‑containing lipoproteins in hepatocytes and enterocytes. Biallelic pathogenic variants in MTTP cause abetalipoproteinemia, a rare life‑threatening disorder with progressive neurological and ophthalmological complications. Several common single nucleotide variants in this gene are associated with various metabolic disturbances. A literature review was conducted, including analysis of the gene structure and mechanisms of alternative splicing of MTTP, the domain organization of MTP, its interaction with protein disulfide isomerase, and selected pathogenic variants of this gene based on published functional studies and clinical data. An in‑depth understanding of the molecular mechanisms underlying MTP dysfunction is essential for accurate interpretation of genetic testing results, prediction of clinical phenotype, differential diagnosis, and the development of personalized therapeutic strategies for abetalipoproteinemia and related disorders.