Background. Accumulating evidences approve the role of long non-coding RNAs (lncRNAs) in the maintenance of metabolic homeostasis; dysregulation of certain lncRNAs induces the progression of metabolic syndromes such as obesity. H19 is an imprinted maternally-expressed gene, codes for a lncRNA molecule. Role of H19 and its differential expression in obesity remain poorly understood. Findings related to H19 upregulation or downregulation in metabolic organs of obese patients showed discrepancy among different studies, and the potential regulatory mechanism behind this still unclear.  A comprehensive characterization of the function and regulation of H19 can provide prospective basis for the development of potential therapeutic and diagnostic method to manage obesity.

Aim. Summarize the roles of lncRNA H19 in developing obesity, and the potential regulatory mechanisms of its expression. Methods. Conducting a theoretical literature search for articles investigating the role and regulation of H19 in obesity. Search was done in the databases: Pubmed, Google Academy and E-library, in the period from 2000 to 2022.

Results. We illustrated the role of lncRNA H19 in carbohydrates and lipid metabolism. Based on our analysis of the published literature, we proposed a potential role of hypoxia in regulating expression of H19 in obese individuals.

Conclusion. The lncRNA H19 plays an important role in the development of obesity by regulating the expression of genes responsible for glucose and lipid metabolism. Hypoxia, resulting from a chronic low-grade inflammation related to obesity may regulate the differential aberrant expression of H19, This proposal should become a relevant problem for future researches in order to understand the regulatory mechanism of H19 expression in obesity, for further development of effective methods in obesity management and prevention.

Urea cycle disorders are a group of congenital metabolic disorders with a high risk of death. The pathogenesis is associated with the accumulation of ammonia and other intermediate products of protein metabolism that have a neurotoxic effect. This paper presents a retrospective analysis of 36 cases of one of the most common urea cycle disorders - ornithine transcarbamylase deficiency (OTCD). A thorough analysis of the clinical picture of the disease in this group of patients is presented.

OTCD has extremely variable timing of onset and severity and, as a result, significantly complicates prompt and accurate clinical diagnosis. This research is designed to heighten clinical awareness of this group of diseases among doctors of all specialties, in particular OTCD.

Background. Due to the continuous development and improvement of genetic research methods, the range of possible prenatally determined chromosomal abnormalities is expanding. The use of modern molecular genetic methods, the noninvasive prenatal testing (NIPT) and chromosomal microarray analysis (CMA), allows both the suspicion and diagnosis of chromosomal rearrangements that cannot be identified by standard cytogenetic testing.

Patients and methods. Two clinical cases of fetal chromosomal rearrangement are presented. Pregnant women underwent the first trimester prenatal screening and whole-genome NIPT. When indicated, invasive prenatal diagnosis (IPD) was performed, and the obtained material was sent for cytogenetic examination and CMA.

Results. Based on the results of prenatal screening in the first trimester of pregnancy, the patients were assigned to the high-risk group for fetal chromosomal abnormalities (CA) in both cases. A high risk of rare CA was established by the results of NIPT. IPD was performed with the consent of the patients. The results of cytogenetic studies and CMA determined an unbalanced karyotype with the presence of additional genetic material in the fetuses.

Conclusions. The use of modern molecular genetic methods in addition to traditional methods (the first trimester prenatal screening and standard cytogenetic analysis) allows us to increase the range of detectable CAs determined prenatally.

CHARGE syndrome is a rare autosomal dominant disease caused by mutational lesions in the CHD7 and SEMA3E genes (OMIM 214800). The prevalence is approximately 1 in 12,000 newborns. Most cases of CHARGE syndrome are caused by de novo pathogenic variants of the CHD7 gene, which encodes the DNA-binding protein helicase 7 chromodomain, which is responsible for chromatin organization. The abbreviation “CHARGE” summarizes six clinical signs of the syndrome: C - coloboma, H - heart defects, A - atresia of choanae, R - retardation of growth and/or development, G - genital anomalies, E - ear abnormalities. This paper presents a genotype-phenotypic analysis of a case with a previously unknown nonsense substitution c.1940C>G (p.Ser647*) in the CHD7 gene, identified by whole exome sequencing in a patient with an initially undifferentiated form of hearing loss associated with multiple developmental anomalies. As a result of a clinical examination, the patient revealed 7 signs that correspond to the updated diagnostic criteria for CHARGE syndrome: three main ones (anomalies of the inner ear, ocular coloboma and pathogenic variant in the CHD7 gene) and four secondary signs (mental retardation, congenital heart disease, cranial nerve dysfunction, hypothalamic-pituitary dysfunction). The paper discusses the relationship with this syndrome of the identified two additional signs from the endocrine system and the musculoskeletal system, not included in the latest version of the diagnostic criteria for the CHARGE syndrome. We hope that close attention to genotype-phenotypic characteristics will help determine how best to diagnose, counsel and provide the necessary medical and social care for patients with such rare diseases.

The carriage of pathogenic genetic variants by healthy people leads to an increased risk of having children with autosomal recessive diseases. Genetic screening determines the carrier status of known hereditary diseases. Medical technologies make it possible to have healthy children, even if both parents are carriers of a hereditary disease. In this regard, the introduction of genetic screening is relevant for healthcare. The purpose of the work: to increase the efficiency of genetic screening of the population of Yakutia. Material and methods. The questionnaire survey involved 271 respondents over the age of 18, of which 222 were women (81.9%) and 49 were men (18.1%). Thesample of the pilot study consisted of rural and urban residents. The questionnaire included 21 questions concerning the social status of the respondents and their attitude towards genetic screening. Results. More than 70% of respondents expressed a positive attitude towards genetic screening, and 89.3% agree to undergo DNA testing. The main factors that determine the attitude of respondents to genetic screening are the place of residence (urban, rural) and the level of education. Results. More than 70% of respondents expressed a positive attitude towards genetic screening, and 89.3% agree to undergo DNA testing. The main factors that determine the attitude of respondents to genetic screening are the place of residence (urban, rural) and the level of education. A low level of awareness (37.6%) about the carriage of pathogenic variants in the genes of hereditary diseases by healthy people was established. Conclusion. Raising awareness of the carriers of hereditary diseases, especially urban residents and young families with children, can increase the number of participants in the genetic screening program.

Multiple myeloma (MM) is a hematological malignancy characterized by clonal proliferation of abnormal plasma cells.  Patients with MM have a baseline cardiovascular disease (CVD) risk of 54–74%. An important role in the development and/or progression of CVD is played by endothelial dysfunction (ED), which is based on an imbalance, in particular, between the synthesis and secretion of vasoconstrictors and vasodilators. In connection with the predictive and preventive focus of medicine, it has become relevant to study the genetic predisposition to the development of ED. We have studied the association of genetic variants of endothelin-1 gene (rs5370) with the concentration of endothelin-1 (ET-1) in the blood serum of patients with newly diagnosed MM before the start of anticancer therapy. As a result of the study, the following distribution of genetic variants in the study group was revealed: the wild variant was 13.64%, the minor variant was 29.55%, and the heterozygous variant was 56.82%. While in the control group it was as follows: 40.00%, 24.44% and 35.56%, respectively. Patients with MM had higher serum ET-1 concentrations when compared with patients without MM.