The aim of the study was to evaluate the association of methylation of the F2RL3, CDKN2A gene with sudden cardiac death (SCD). Material and methods. Case-control study design. The SCD group included 150 deceased men (mean age 46.7 ± 9.2 years) with the main pathological diagnoses of acute circulatory failure, acute coronary insufficiency, which meets the SCD criteria of the European Society of Cardiology. The control group included 150 men who died suddenly, but not due to cardiovascular pathology (mean age 42.6 ± 1.2 years). DNA was isolated by phenol-chloroform extraction from myocardial tissue in both groups. The methylation status of the F2RL3 gene (19: 16890405-16890606, GRCh38.p13) and the CDKN2A gene (9: 21974726-21974877, GRCh38.p13) was assessed by methyl-specific polymerase chain reaction. Results. In the SCD group, 17.3 % (26/150) had the F2RL3 gene completely methylated (MM); in 6.0 % (9/150) it is completely unmethylated (UU); 76.7 % (115/150) had both methylated and unmethylated F2RL3 (MU) gene. In the control group, 16 % (24/150) had the F2RL3 gene completely methylated (MM); in 5.3 % (8/150), it is completely unmethylated (UU); 78.7 % (118/150) had both methylated and unmethylated F2RL3 (MU) gene. When comparing the groups, there were no statistically significant differences in the methylation status of the F2RL3 gene between the groups (p > 0.05). In all subjects in the SCD group and the control group, the CDKN2A gene is completely unmethylated. Conclusions. Methylation of genes F2RL3, CDKN2A is not associated with sudden cardiac death.

Maturity onset diabetes of the young is a dominantly inherited form of monogenic diabetes, diagnosed mainly before the age of 35 years. Mutations in the HNF1A and HNF4A genes are associated with diabetes mellitus of the HNF1A-MODY and HNF4A-MODY subtypes, respectively. These two forms of MODY are characterized by dyslipidemia in addition to impaired glucose metabolism due to the altered function HNF1A and HNF4A proteins. The aim of this study was a genetic analysis of young patients with the MODY phenotype and dyslipidemia with a burdened family history. Material and methods. The probands underwent targeted DNA sequencing using the Illumina MiSeq NGS System. The target panel included the coding regions and splicing sites of MODY-associated genes: HNF4A, GCK, HNF1A, PDX1, HNF1B, NEUROD1, KLF11, CEL, PAX4, INS, BLK, KCNJ11, ABCC8, and APPL1. Results. A heterozygous single nucleotide deletion NM_000457.4: c.153del (3’rule) was found in proband P1 in the HNF4A gene. In proband P2, single nucleotide deletion NM_000545.8: c.335del (3 ‘rule) in the HNF1A gene was detected in a heterozygous state. Both variants are located in the coding parts of the genes, led to a shift in the reading frame and have not been described in the literature and databases earlier. Conclusions. Taking into account the phenotypic features of probands, we assume that the variants NM_000545.8: c.335del (rule 3) in the HNF1A gene and NM_000457.4: c.153del (rule 3) of the HNF4A gene are associated with different MODY subtypes in these individuals. After verification of MODY-HNF1A and MODY-HNF4A diagnosis, it is necessary to monitor the lipid profile parameters (total cholesterol, low and high density lipoprotein cholesterol, triglycerides) and prescribe appropriate drug therapy.

Background: Our study aimed to assess the relationship between the parameters of the lipid profile, atherogenic index of plasma (AIP), anthropometry influence with the severity of the new coronavirus infection COVID-19 in women. Material and methods. The study design was a cross-sectional study. The research included 138 women aged 29–82 years who had undergone a new coronavirus infection COVID-19 at least two months ago. Participants were divided into three groups by severity of infection: mild (n = 61), moderate (n = 70) and severe (n = 7). Body mass index, waistline and hip circumference, waistline circumference to hip circumference index, total cholesterol, triglycerides, HDL, LDL, AIP were calculated. Statistical processing of the obtained results was carried out using the SPSS software package (version 20.0) using the Mann-Whitney test, univariate logistic regression analysis, Pearson chi-squared test. Results. The levels of HDL-cholesterol were significantly lower in group 3 compared with the level of HDL-cholesterol in women in group 2 (p2-3 = 0.046). BMI was higher in the moderately severe group compared to the mild one (26.32 [23.305; 30.4] versus 28.78 [24.72; 34.77], p1-2 = 0.026). Hip circumference was higher in patients with severe COVID-19 than in patients with mild course (104 [98; 112] versus 114 [109.5; 126], p1-3 = 0.039), AIP was higher in women with severe course compared to women with moderate and mild course (p1-3 = 0.043, p2-3 = 0.04). The results of the logistic regression analysis showed that the moderate course of COVID-19 is associated with BMI (OR = 1.09, 95 % CI 1.019–1.166, p1-2 = 0.012), and the severe course with WC (OR = 1.041, 95 % CI 1.001–1.084, p1-3 = 0.046), AIP value ≥ 0.11 (OR = 13.824, 95 % CI 1.505–126.964, p1-3 = 0.02; OR = 11,579, 95 % CI 1,266–105,219, p2-3 = 0.03) and HDL level < 40 mg/dl (OR = 14,750, 95 % CI 2,317–93,906, p1-3 = 0.004; OR = 8,000, 95 % CI 1,313– 48,538, p1-3 = 0.024). Conclusion. Patients from the group with moderate and severe course of the new coronavirus infection have higher body mass index, hip circumference, AIP, lower HDL values. The chance of a moderate course of COVID-19 is associated with an increased BMI value, and a severe course with WC, AIP ≥ 0.11 and HDL level < 40 mg/dl.

Aim of the study was to assess the frequency of microflora detection in the blood of patients with atherosclerotic vascular lesions and middle-aged patients without clinical symptoms of atherosclerosis. Compare the nature of microflora isolated from blood and the range of microorganisms isolated from atherosclerotic plaques (AP) of patients with carotid arteries atherosclerosis. Material and methods. The hemocultures of 118 men and 33 women with atherosclerosis (mean age 55.6 years) as well as 10 blood samples of 3 men and 7 women formed into a control group (mean age 37 years) were examined. Test samples were cultivated for 6 months. Tissue platings of carotid arteries AP in 11 women and 24 men of the main group (mean age 58.0) were incubated for 2 months. Methods based on Student’s t-test and Mann-Whitney U-test were used for statistical analysis of the obtained results. Results. Propionibacterium acnes hemocultures were detected in 9.9 % of patients from the main and control groups. In blood Staphylococcus epidermidis and Stenotrophomonas maltophylia were detected in 0.7 % of samples. P. acnes and Staphylococcus spp. cultures were obtained from AP in 34.3 and 45.7 %, including both microorganisms in 8.6 % of samples. Conclusions. P. acnes cultures are found equally frequently in the blood of atherosclerotic patients and patients not yet diagnosed with atherosclerosis. This study confirmed the presence of the same-name microorganisms in blood and atherosclerotic plaques. In 5.7 % (2 of 35) it was possible to extract simultaneously a P. acnes culture from two loci (atherosclerotic tissue and blood) in specific individuals. Further detailed research is required to study the etiological significance of the microbial factor in the atherosclerotic plaque formation.

Aim of the study was to investigate the associations of polymorphisms of some genes with overweight and some anthropometric and biochemical indicators in a population sample of the young population of Novosibirsk. Material and methods. The study was carried out on a sample of young people aged 25–35 years, residents of Novosibirsk, selected by the method of random numbers (n = 319). During the survey, a questionnaire was filled out, anthropometric measurements, blood sampling, followed by biochemical and molecular genetic studies were carried out. Results. The odds ratio (OR) to detect a carrier of the AA rs9939609 genotype of the FTO gene in the group with an increased body mass index (BMI) compared to the group with a normal BMI is 2.1 times higher (95% confidence interval (95 % CI) 1.2– 3.8; p = 0.019 in the AA vs AT+TT model). In the Kruskal – Wallis test in the general group, differences were found in carriers of different rs9939609 genotypes of the FTO gene in the thickness of the skin fold in the middle third of the right shoulder (p = 0.0008) and under the right shoulder blade (p = 0.026). In carriers of the AA genotype, these indicators were noticeably higher compared to carriers of the AT and TT genotypes. Differences in high density lipoprotein cholesterol were found in women (p = 0.032; the lowest level in the AA genotype) and low density lipoprotein cholesterol (p = 0.027; the highest value in the AA genotype). In addition, female carriers of the TT rs7903146 genotype of the TCF7L2 gene had lower diastolic blood pressure than carriers of the CT and CC genotypes (p = 0.027). The probability of detecting a male carrier of the CT or TT genotypes of the TCF7L2 gene polymorphism rs7903146 in the obese group is 0.313 (95 % CI 0.102–0.955; p = 0.036 in the CC vs CT+TT model) compared with the group with excess BMI (25 ≤ BMI < 30 kg/m2 ). The probability of detecting the allele with rs10811661 of the CDKN2AB gene in the obese group is 2.2 times higher (95 % CI 1.1–4.5; p = 0.035) compared with the group with an excess BMI. Conclusion. The association of overweight in the population sample of the young population of Novosibirsk was confirmed with rs9939609 of the FTO gene, rs7903146 of the TCF7L2 gene, rs10811661 of the CDKN2AB gene. The association of rs2237892 of the KCNQ1 gene and rs1111875 of the HHEX gene with overweight was not found. Associations of the studied SNPs with some anthropometric and biochemical indicators were found.

Despite the fact that most young patients with hyperglycemia are diagnosed with type 1 (T1DM) and type 2 (T2DM) diabetes, up to 10 % of all cases of the disease are MODY diabetes. The most common types of MODY are GCK-MODY and HNF1A-MODY, therefore the investigation of their clinical and laboratory characteristics, including lipid spectrum indicators is of high clinical significance. The aim of this research work was to study the values of lipid spectrum indicators in patients diagnosed with GCK-MODY and HNF1A-MODY at the age from 18 to 45 years. Lipid profile parameters were investigated in 56 patients aged 18 to 45 years with diagnosed GCK-MODY and HNF1A-MODY by molecular genetic tests, matched by sex, age and body mass index (BMI). No statistically significant differences were found for any of the indicators, however, in patients with HNF1A-MODY, the decrease in HDL-C is determined significantly more often than in GCKMODY. Thus, the group of persons with MODY differs in the level of lipid profile indices depending on the type of MODY.

The study was devoted to the study of the prevalence of hypercholesterolemia (hyper-Chol) and hypercholesterolemia of low density lipoproteins (hyper-LDL-C) against the background of abdominal obesity (AO) in a population aged 25–44 years in Novosibirsk. Material and methods. A crosssectional survey of the population aged 25–44 years in Novosibirsk (Russia) was carried out. 1415 people were examined, including 670 men (47.3 %) and 745 women (52.7 %), pregnant women or being on maternity leave were not included in the study). All subjects were assessed for the presence of AO, hyper-Chol and hyper-LDL-C. Results. Individuals with AO had higher average values of total cholesterol and LDL cholesterol. The prevalence of hyper-Chol in individuals with AO was 1.3 times higher and hyper-LDL-C – 1.2 times higher than in individuals without AO. In women with AO, the prevalence of hyper-Chol was 1.2 times higher and hyper-LDL-C – 1.3 times higher than in women without AO. In men with AO, the prevalence of hyper-Chol was 1.4 times higher and hyper-LDL-C – 1.2 times higher than in men without AO. When conducting logistic regression analysis, it was found that in a young population under 45 years of age, abdominal obesity was significantly associated with the presence of atherogenic hypercholesterolemia in both sexes. In men, significant associations of AO with both hyper-Chol and hyper-LDL-C were noted, in women – only with hyper-LDL-C. Conclusions. A population study of young people (25–44 years old) revealed associations of atherogenic hypercholesterolemia with abdominal obesity.

The aim of the study was to provide a population assessment of cognitive impairment patterns in a representative sample of 25–44-year-old men and women living in Western Siberia with metabolic syndrome (MS). Material and methods. A cross-sectional population survey of a random representative sample of 25–44-year-olds of both sexes (1503 people) permanently residing in Western Siberia (Novosibirsk) was performed. The study of cognitive functions was conducted in 1009 people: 463 men (45.9 %) and 546 women (54.1 %). A 10-word memorization test was performed according to the methodology proposed by A.R. Luria (unified for screening purposes), with subsequent reproduction after interfering tasks (recall), a proof-reading test (a letter modification of the Bourdon test used for screening purposes), as well as the exclusion of concepts (a verbal version of the test). The MS criteria (VNOK, 2009) were used: FROM > 80 cm in women and > 94 cm in men and 2 of the following criteria: blood pressure ≥ 130/85 mmHg, TG content ≥ 1.7 mmol/L, HDL-C < 1.0 mmol/L in men and < 1.2 mmol/L in women, LDL-C > 3.0 mmol/L, plasma hyperglycemia > 6.1 mmol/L. Results. In the surveyed sample of residents of In Novosibirsk, 25–44 years old, MS occurred in every fourth person tested for cognitive functions (26.06 %): 148 men (31.96 %) and 115 women (21.06 %), MS occurred more often in women than in men. With age, there is an increase in the frequency of MS in both sexes (p < 0.05). For MS, statistically significant associations are shown with direct memorization (1st memorization experience, p = 0.025), the number of directly memorized words (p = 0.015) and with delayed reproduction of words after an interfering task (p = 0.015) in the 10-word memorization test by A.R. Luria. The average rank, as well as the average values of these cognitive tests, were higher in individuals without MS compared to those with MS diagnosed. There were no links between MS and the indicators of the proofreading test. There were also no statistically significant associations of MS with the number of animals named in 1 min in the speech activity test when studying semantically mediated associations. Conclusion. In a population study of young people (25–44 years old) for the first time in Russia/A statistically significant deterioration of cognitive memory patterns in individuals with MS components has been proven in Siberia (Novosibirsk). This confirms the importance of the «cerebrovascular continuum» in the genesis of cognitive impairment at a young age.

Aim of the study was to evaluate the efficacy and safety of the combined use of statins with ezetimibe in patients of various nosological groups of high and very high cardiovascular risk. Material and methods. A prospective interventional non-randomized study included 40 people, mean age 60.7±9.5 years, high and very high cardiovascular risk, who did not receive statin therapy or took statins without reaching the target low density lipoprotein (LDL) cholesterol values. Patients were recommended to receive high-intensity statin therapy in combination with ezetimibe for 3 months. Biochemical parameters were determined by standard enzymatic methods and the beginning of combined lipid-correcting therapy and after 3 months. Results. In patients with high cardiovascular risk, the level of total cholesterol decreased by 39.7 % 3 months after treatment (6.8 ± 2.5 and 4.7 ± 2.5 mmol/L; p = 0.0001), the level of LDL cholesterol by 52.2 % (4.6 ± 2.4 and 2.8 ± 2.2 mmol/L; p = 0.0001), the TG level by 26 % (2.7 ± 1.1 and 2.0 ± 1.0 mmol/L; p = 0.008). In the group of patients with very high cardiovascular risk, we also noted a decrease in the total cholesterol level by 39.1 % (6.4 ± 1.4 and 4.4 ± 1.2 mmol/L; p = 0.0001), the level of LDL cholesterol by 45.5 % (4.4 ± 1.4 and 2.5 ± 0.9 mmol/L; p = 0.0001). We did not find statistically significant changes in the remaining lipid parameters. LDL cholesterol targets were achieved in 64 % of patients with high and 52 % of very high cardiovascular risk. There were no significant changes in activity of alanine and aspartate amino transferases, content creatine phosphokinase, glucose and glycated hemoglobin, glomerular filtration rate. Conclusions. Initial combination therapy with statin and ezetimibe is well tolerated and can reduce LDL cholesterol levels by 2 times within 3 months in various categories of patients with high and very high cardiovascular risk.

Familial hypercholesterolemia is a hereditary autosomal dominant disease characterized by a violation of cholesterol metabolism. This nosology was first described in the late 1930s by the Norwegian clinician Karl Moeller, he proposed the idea that hypercholesterolemia and tendon xanthomas are associated with cardiovascular diseases through the inheritance of a single gene. In 1964, two clinical phenotypes of familial hypercholesterolemia were discovered: heterozygous and homozygous, associated with an unfavorable prognosis. To date, it is known that the long-running process of accumulation of low-density lipoproteins in the intima of blood vessels may not have clinical symptoms for many years due to the developed system of collaterals and the absence of hemodynamically significant stenosis. However, without timely diagnosis and appropriate therapy, this condition inevitably leads to the development of a cardiovascular event. The article presents a clinical case demonstrating the development of myocardial infarction in a patient with a late diagnosis of this disease.

The literature review presents the results of studies carried out in the world over the past years, devoted to the study of factors and markers of oxidative stress in the development of therapeutic diseases, especially cardiovascular diseases. The article describes the results of studies using enzyme immunoassay of such biomarkers of oxidative stress as glutathione peroxidase, superoxide dismutase, oxidatively modified low density lipoproteins, carbonylated proteins, as well as the general antioxidant capacity of the blood.

Determination of new biomarkers involved in the pathogenesis of ischemic stroke is an extremely important task from the point of view of identifying possible mechanisms for preventing the occurrence of an acute event, better diagnosis, and influencing the stages of pathogenesis to reduce the inflammatory focus. Sphingolipids belong to new biomarkers of atherosclerosis, which are involved in inflammation, apoptosis, and ischemia. The widespread introduction of mass spectrometry has made it possible to study sphingolipids in more detail. This review aims to summarize the available data on the role of sphingolipids in ischemic stroke.

In recent decades, there has been an increase in the prevalence of overweight and obesity. Obesity has become an underestimated pandemic and a public health threat around the world. Adipose tissue is positioned as an endocrine organ that secretes a wide range of pro-inflammatory cytokines and adipokines, inducing a state of chronic subinflammation. The results of epidemiological studies over the past 30 years have also shown that visceral adipose tissue is an independent risk factor for the development of atherosclerosis, cardiometabolic diseases and chronic kidney disease. We performed a systematic review to summarize important aspects of the state of chronic subinflammation in the context of its effect on the decrease in glomerular filtration rate and the development of chronic kidney disease. The review deals with the etiology and pathogenesis of obesity, the hormonal profile of adipose tissue, the molecular mechanisms of the effect of pro-inflammatory cytokines and adipokines on the kidneys, and the pathophysiology of renal diseases. Information on the topic from publications based on the Pubmed database has been used.