The Cancer Genome Atlas (TCGA), using approaches based on the analysis of full-exome sequencing, changes in the copy of chromosomal loci, gene expression, DNA methylation and protein activity, proposed a molecular classification of gastric cancer into four subtypes: the subtype associated with Epstein-Barr virus (EBV+), the subtype associated with microsatellite instability (MSI), chromosomally unstable subtype (CIN) and genomically stable subtype (GS). However, the subtype of GC with chromosomal instability is still insufficiently described and does not have effective and convenient markers for diagnosis, molecular and histological verification. The CIN subtype of GC is characterized by the presence of chromosomal instability, which is manifested by an increased frequency of aneuploidies and/or structural chromosomal rearrangements in tumor cells. Structural rearrangements in CIN subtype of GC are not accidental and are detected in certain chromosomal loci, which are often subject to rearrangements as a result of a certain structural organization. The review considers the molecular mechanisms and possible causes leading to the appearance of chromosomal instability in GC, presents the common rearrangements of chromosomal loci and their impact on the development and clinical course of the disease, as well as lists the driver genes, their functions and the possibilities of targeting them in CIN subtype of GC. 

Background. The rs6265 polymorphism of the BDNF gene is one of the informative molecular genetic markers, which is associated with a wide range of neurological disorders. However, there is no recent information concerning the role of this polymorphism in the pathogenesis of vibration disease (VD).

Aim: to estimate the assessment of the BDNF gene rs6265 alleles and genotypes frequencies in patients with VD, their distribution in groups of patients depending on the type of vibration exposure and comparison with data from association studies of other authors.

Methods. The study included 140 men with VB (83 patients with VB formed from combined effect of general and local vibration, 57 – from local vibration) and 40 men – the comparison group. The polymorphic locus rs6265 of the BDNF gene was typed by polymerase chain reaction with real-time detection of the results on a CFX96 (Bio-Rad, USA).

Results. The frequencies of genotypes and alleles of the polymorphic locus rs6265 of the BDNF gene in patients with VB were determined for the first time. As for statistics, it did not differ significantly from those in the comparison group as well as in the groups of residents of the European part of Russia, Siberian Federal District, Russians living in Tomsk and Tomsk Region, in the Northwestern, Southern and North Caucasian Federal Districts. No distinctive features in patients with VB depending on different types of vibration were revealed. At the same time, differences in the frequency of carrying the minor allele in the study sample and other ethnic populations were registered, that is characterized by a higher frequency of minor allele in the East Asian and South Asian populations and its decrease in the African population.

Conclusion. The obtained results are important and can be used for studies both with clinical manifestations of the disease and with serum BDNF concentration. 

Coronavirus disease 2019 (COVID-19) is a highly contagious infectious disease, which caused a global pandemic. The differences of symptoms among COVID-19 patients made it important to search for the factors that may play a significant role in its pathogenesis. The aim of the current study was to investigate the association of interleukin 6 (IL-6) genetic variation rs1800795 with both susceptibility and severity of COVID-19, by performing a meta-analysis of the available data in the literature. Several databases were searched using specific keywords, and a total of 12 full-text articles were included in the analysis. No association was found with the COVID-19 susceptibility. However, a significant association was found between the studied polymorphism and the COVID-19 severity in the recessive model of inheritance (OR =2.11, 95% CI [1.12, 3.98], p=0.02). To our knowledge, this meta-analysis is the first to study the association of IL6 rs1800795 with both susceptibility and severity of COVID-19, and its results reflect the current published data, and may serve as a guide for further research. 

Aim. Assessment of the results of the first year of neonatal screening for SCID in Krasnodar region and identification of factors affecting the level of analyzed indicators

Methods. During the first year, 47073 infants were screened for SCID in Krasnodar region, using real-time PCR to quantitate T-cell receptor excision circles (TRECs) and kappa-deleting recombination excision circle (KREC). The average levels of TREC and KREC in children of different gestational ages were calculated, and relationships between these indicators were identified using the Kruskal-Wallis test.

Results. According to the results of the study, 4 groups of children of different gestational age were analyzed, according to the WHO classification: the most significant associative relationship between the amount of TREC and KREC in the blood of a child with gestation period was revealed. During the period of the screening 102 newborns of the PIDS-risk group, 93 samples were delivered to the Medical and Genetic Research Center, Moscow. Confirmation of reduced TREC/KREC levels was received for 17 children. At the same time, primary immunodeficiency, as the main diagnosis, has not been established in any patient. Two children with chromosomal pathology were diagnosed with PIDS as a concomitant diagnosis. Two children are on the dispensary register with an immunologist due to deviations in the results of immunophenotyping but with a normal amount of TREC / KREC after retest.

Conclusion. The results obtained demonstrate that neonatal screening for PIDs using real-time PCR is an effective element of clinical practice, allowing timely detection of hereditary diseases, which, in turn, accelerates the prescription of pathogenetic therapy, reducing the level of disability and mortality among newborns. 

The results of epidemiological monitoring of congenital malformations in children in the Republic of North Ossetia-Alania from 2011 to 2022 are described. The main contribution to the structure of isolated congenital defects is made by defects of the cardiovascular system, musculoskeletal system and other developmental anomalies. The most common malformations, both according to EUROCAT data for the Russian Federation as a whole, and according to our regional data, are hypospadias, Down syndrome, and cleft lip/palate. Lower incidence in the region is typical for spinal bifida, abdominal wall defects, esophageal atresia, reduction malformations of the limbs, and cleft palate. A higher frequency in the republic compared to EUROCAT data and data for the Russian Federation is typical for transposition of large vessels. The frequency of congenital malformations of mandatory registration during this period of time was 15.11 per 1000 newborns or 1:66 newborns with variation over the years. In North Ossetia-Alania there is a higher incidence of congenital malformations than the national average 

Neonatal hypertrypsinogenemia (in screening and retest) should be regarded not only as a marker of cystic fibrosis, but also as a sign of other diseases and conditions, incl. structural chromosomal rearrangements. This will help to diagnose pathology in a timely manner and correct therapeutic measures at an earlier age. The article describes a clinical case of hypertrypsinogenemia with partial trisomy of chromosome 13. Various reasons for the increase in immunoreactive trypsin as part of neonatal screening are also considered. The data of a retrospective analysis of the case histories of patients with hypertrypsinogenemia are presented.