Clinical and biochemical features of atherogenic hyperlipidemias with different genetic basis: A comprehensive comparative study.

Patients with genetically-based hyperlipidemias exhibit a wide phenotypic variability. Investigation of clinical and biochemical features is important for identifying genetically-based hyperlipidemias, determining disease prognosis, and initiating timely treatment. We analyzed genetic data from 3374 samples and compared clinical data, lipid levels (low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol, triglycerides, and lipoprotein (a)), frequency, age at onset of coronary heart disease (CHD), and the severity of carotid and femoral atherosclerosis (plaque number, maximum stenosis, total stenosis, maximum plaque height, and plaque score) among patients with familial hypercholesterolemia (FH), familial dysbetalipoproteinemia (FD), polygenic hypercholesterolemia (HCL), severe HCL, and those without lipid disorders (n = 324).

Spectrum and Prevalence of Rare Variants and Their Association with Familial Dysbetalipoproteinemia.

Familial dysbetalipoproteinemia (FD) is a highly atherogenic, prevalent genetically based lipid disorder. About 10% of FD patients have rare variants associated with autosomal dominant FD. However, there are insufficient data on the relationship between rare variants and FD.

A Rare Coincidence of Three Inherited Diseases in a Family with Cardiomyopathy and Multiple Extracardiac Abnormalities.

A genetic diagnosis of primary cardiomyopathies can be a long-unmet need in patients with complex phenotypes. We investigated a three-generation family with cardiomyopathy and various extracardiac abnormalities that had long sought a precise diagnosis. The 41-year-old proband had hypertrophic cardiomyopathy (HCM), left ventricular noncompaction, myocardial fibrosis, arrhythmias, and a short stature.

Beach litter composition, distribution patterns and annual budgets on Novaya Zemlya archipelago, Russian Arctic.

Beached macrolitter (>2,5 cm) abundance and composition in the Russian (Eastern) part of the Barents Sea and the adjacent part of the Kara Sea was assessed for 2021-2023. Average densities of beach litter on the coasts are 675 items/100 m and 37 kg/100 m (0.27 items/m and 0.

Assessment of marine litter on the Fields Peninsula, King George Island, Antarctica.

The study presents the results of the survey of beached litter on the two opposite shores of the Fields Peninsula (King George Island) conducted during the austral summer seasons of 2022 and 2023, as part of the 67th and 68th Russian Antarctic expeditions. Beaches situated on the coast of the Drake Passage were much more polluted compared to the beaches on the Maxwell Bay side. Plastic accounted for 86 % of all found items on the shores of the Drake Passage, with the majority of items related to fisheries or shipping.

Prevention of cardiovascular disease in young adults: Focus on gender differences. A collaborative review from the EAS Young Fellows.

A steady rise in cardiovascular morbidity and mortality has been observed in young adults within the last decades. This trend corresponds to an increasing prevalence of traditional cardiovascular risk factors such as obesity and diabetes mellitus type 2 among young adults living in developed countries. Moreover, age-specific risk factors, such as substance abuse, contraceptive medication, and pregnancy-related diseases also correlate with an increased incidence of cardiovascular diseases.

Applicability of Diagnostic Criteria and High Prevalence of Familial Dysbetalipoproteinemia in Russia: A Pilot Study.

Familial dysbetalipoproteinemia (FD) is a highly atherogenic genetically based lipid disorder with an underestimated actual prevalence. In recent years, several biochemical algorithms have been developed to diagnose FD using available laboratory tests. The practical applicability of FD diagnostic criteria and the prevalence of FD in Russia have not been previously assessed.

A Splice Variant of the Gene Is Causative in a Family with Isolated Left Ventricular Noncompaction Cardiomyopathy.

Variants of the gene have been associated with a number of primary cardiac conditions, including left ventricular noncompaction cardiomyopathy (LVNC). Most cases of -related diseases are associated with such variant types as missense substitutions and in-frame indels. Thus, truncating variants in (tv) and associated mechanism of haploinsufficiency are usually considered not pathogenic in these disorders.

Phenotypic vs. genetic cascade screening for familial hypercholesterolemia: A case report.

One of the most common autosomal dominant disorders is familial hypercholesterolemia (FH), causing premature atherosclerotic cardiovascular diseases and a high risk of death due to lifelong exposure to elevated low-density lipoprotein cholesterol (LDL-C) levels. FH has a proven arsenal of treatments and the opportunity for genetic diagnosis. Despite this, FH remains largely underdiagnosed worldwide.

A Case of Severe Left-Ventricular Noncompaction Associated with Splicing Altering Variant in the Gene.

Left ventricular noncompaction (LVNC) is a highly heterogeneous primary disorder of the myocardium. Its clinical features and genetic spectrum strongly overlap with other types of primary cardiomyopathies, in particular, hypertrophic cardiomyopathy. Study and the accumulation of genotype-phenotype correlations are the way to improve the precision of our diagnostics.

Case Report: Next Generation Sequencing in Clinical Practice-A Real Tool for Ending the Protracted Diagnostic Odyssey.

We reported a case of sitosterolemia, which is a rare genetic disease, characterized by increased plant sterol absorption and great heterogeneity of clinical manifestations. Our patient was initially referred to the lipid clinic due to high cholesterol levels and premature cardiovascular disease. Diagnosis of familial hypercholesterolemia was established in accordance with the Dutch Lipid Clinic Network criteria.

Personalized approach in arrhythmology by genetic-based data: a case report.

The results of molecular genetic testing may affect recommended treatment or therapeutic decisions and risk assessment, may help with identification of family members at risk. Here, we report a case of a young patient with a paradoxical combination of two inherited arrhythmic syndromes and demonstrate the role of genetic testing as one of the basis of personalized approach in diagnosis, treatment and prevention complications of inherited channelopathies complications. Integration of genetic testing results into clinical practice is a successful example of the concept of personalized medicine.

Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region.

We performed a targeted sequencing of 242 clinically important genes mostly associated with cardiovascular diseases in a representative population sample of 1,658 individuals from the Ivanovo region northeast of Moscow. Approximately 11% of 11,876 detected variants were not found in the Single Nucleotide Polymorphism Database (dbSNP) or reported earlier in the Russian population. Most novel variants were singletons and doubletons in our sample, and virtually no novel alleles presumably specific for the Russian population were able to reach the frequencies above 0.

Combining citizen and conventional science for microplastics monitoring in the White Sea basin (Russian Arctic).

The study presents the results of the field expedition in the Russian Arctic held by a group of NGO members, scientists and volunteers in summer-autumn 2020 in the Arkhangelsk Region (Russia). The survey showed microplastics presence in 7 out of 13 remote and sparsely inhabited locations in lakes, rivers and coastal areas of the White Sea basin, with microplastic particle average concentration 1.14 part/m, that is in agreement with other recent regional studies.

The Prevalence of Heterozygous Familial Hypercholesterolemia in Selected Regions of the Russian Federation: The FH-ESSE-RF Study.

Heterozygous familial hypercholesterolemia (HeFH) is one of the most common genetic conditions but remains substantially underdiagnosed. The aim of our study was to investigate the prevalence of HeFH in the population of 11 different regions of Russia. Individuals were selected from the Epidemiology of Cardiovascular Risk Factors and Diseases in Regions of the Russian Federation Study.

Cystic Fibrosis Polymorphic Variants in a Russian Population.

Purpose: Cystic fibrosis (CF) is one of the most common monogenic diseases with an autosomal recessive inheritance. Carrier screening leads to a reduction in the number of children born with CF disease. The aim of this study was to develop the custom panel for the diagnosis of heterozygous carriage of polymorphic variants in the gene and to establish their allelic frequencies (AF) in one of the Russian regions where ethnic Russians predominate.

Case Report: Hypertriglyceridemia and Premature Atherosclerosis in a Patient With Apolipoprotein E Gene εε Genotype.

We present a case of a 40-year-old male with premature atherosclerosis, with evidence of both eruptive and tendinous xanthomas, which could imply an increase in both low-density lipoprotein (LDL) and triglyceride (TG) levels. However, his LDL was 2.08 mmol/l, TG -11.

The , , and Variants of Index Patients with Familial Hypercholesterolemia in Russia.

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 , , and genes potentially associated with FH have been described earlier. Nevertheless, the genetics of FH in a Russian population is poorly understood.

A Data-Driven Approach to Carrier Screening for Common Recessive Diseases.

Genetic screening is an advanced tool for reducing recessive disease burden. Nowadays, it is still unclear as to the number of genes or their variants that are necessary for effective screening. This paper describes the development of a carrier screening custom panel for cystic fibrosis, phenylketonuria, alpha-1 antitrypsin deficiency, and sensorineural hearing loss consisting of 116 variants in the , , and genes.

Associations of SNPs of the Gene with Serum Adiponectin Levels, Unstable Angina, and Coronary Artery Disease.

Adiponectin is encoded by the gene and participates in the pathogenesis of cardiovascular and metabolic diseases. The goal of the study was to assess associations of rs17300539, rs266729, rs182052, rs2241766, and rs17366743 single nucleotide polymorphisms (SNPs) of the gene with concentrations of serum adiponectin and with coronary atherosclerosis and type 2 diabetes mellitus in 447 patients (316 men and 131 women) subjected to coronary angiography. SNPs of the gene of the study participants were genotyped using real-time PCR.

Multiple rare and common variants in APOB gene locus associated with oxidatively modified low-density lipoprotein levels.

Oxidatively modified low-density lipoproteins (oxLDL) play an important role in the occurrence and progression of atherosclerosis. To identify the genetic factors influencing the oxLDL levels, we have genotyped 776 DNA samples of Russian individuals for 196,725 single-nucleotide polymorphisms (SNPs) using the Cardio-MetaboChip (Illumina, USA) and conducted genome-wide association study (GWAS). Fourteen common variants in the locus including APOB gene were significantly associated with the oxLDL levels (P < 2.

Carotid and Aortic Stiffness in Patients with Heterozygous Familial Hypercholesterolemia.

Background: The role of plasma cholesterol in impairing arterial function and elasticity remains unclear. We evaluated arterial stiffness, measured locally in the common carotid artery by high-resolution echo-tracking, and aortic stiffness, using carotid-femoral pulse wave velocity (PWV) (the "gold-standard" measurement of arterial stiffness), in treatment-naive patients with heterozygous familial hypercholesterolemia (FH).

Methods: The study included 66 patients with FH (10-66 years old) and 57 first-degree relatives without FH (11-61 years old).