Vol 28, No 9 (2021)

According to modern concepts, celiac disease is a chronic, genetically determined autoimmune T-cell-mediated enteropathy, characterized by persistent intolerance to specific proteins of the endosperm of the grain of some cereals with the development of atrophic enteropathy and the associated malabsorption syndrome. The disease has a systemic (multi-organ) nature of the autoimmune process, which determines an integrated approach to its diagnosis. In addition, the existence of non-celiac forms of gluten intolerance has been proven, which complicates the diagnostic process and the development of an adequate therapy strategy. The review presents the evolution of views on gluten-related diseases in children.

Background. Congenital malformations are the leading causes of disability and death among the child population. Annually, there is a tendency for the growth of congenital malformations among newborns in the territory of the Novosibirsk region. The structure of these defects also includes congenital skin defects. Objective. Evaluation of the frequency of congenital skin defects in newborns in the Novosibirsk region for 10 years. Methods. Retrospective analysis of medical records for the period from 2010 to 2020: 5918 reports for children with congenital malformations (CM)/multiple congenital malformations born on the territory of the Novosibirsk region; 3206 acts and protocols of medical and social examinations of children from 0 to 3 years old at the Main Office of Medical and Social Assessment of the Novosibirsk region of the Ministry of Labor of Russia, who received the category of «disabled child»; 938 outpatient records of probands of the clinical department of the medico-genetic department of City Clinical Hospital № 1, who were consulted by a geneticist under one year of age. Results. From 2010 to 2020, 32 cases of congenital malformations of the skin and /or its appendages were registered in newborns on the territory of the Novosibirsk region, which was accounted for 0.54% of all congenital malformations, and 59.4% of them were assigned the category of “disabled child", indicating a high percentage of disability in children born with dermatological diseases registered as congenital malformations of the skin and/or its appendages. During visit a doctor, genodermatoses with various modes of inheritance were diagnosed in 26 children: in 19 patients - ichthyosiform erythroderma, in 2 - X-linked ichthyosis, in 4 - epidermolysis bullosa, in1 child - epidermolysis bullosa, dystrophic form. Conclusion. In order to carry out measures for the prevention and treatment of hereditary and congenital diseases, to reduce the associated child morbidity, disability and mortality, all families who have given birth to a child with congenital malformations of the skin and/ or its appendages need a consultation by a geneticist.

Background. At the present stage, the study of the effect of vitamin D due to interaction with its receptor (vitamin D receptor - VDR) is fundamental for understanding the principles of the implementation of genomic and non-genomic effects of vitamin D on cells. Polymorphisms of genes encoding the vitamin D receptor (VDR) and vitamin D binding protein are considered as possible reasons for the variable effect of vitamin D in the implementation of the inflammatory process. In this regard, attention is shifted to the genetic basis of VDR regulation. At the same time, in assessing the variability of pathology and the response to pharmacotherapy with vitamin D, special attention was paid to the VDR gene BSMI (283 G>A). polymorphisms. Objective.Evaluation of the effect of polymorphic variants of vitamin D receptor genes on the course of chronic bronchopulmonary diseases in children. Methods. According to the purpose of the study, a comprehensive examination of 98 children with chronic lung diseases was carried out. Patients received treatment in the Pulmonary Department of the N.N. Silischeva Regional Children’s Clinical Hospital (Astrakhan) from 2016 to 2019. To solve the problem, all patients were divided into 2 groups. The first group was represented by children diagnosed with chronic bronchitis (n=30, 8.0±0.67 years) and obliterative bronchiolitis (n=12, 6.83+0.84 years). The second group included patients with diagnosed cystic fibrosis (n=34, 9.0+1.09 years), primary immunodeficiencies (n=12, 10.67+1.05 years) and malformations of the lung (n=10,6, 60+1.27), that is, patients with congenital defects of the mucociliary system. The study design was presented by several stages. At the first stage, the collection of clinical and anamnestic data of patients was carried out. The biochemical spectrum of the examination included the determination of blood serum total hydroxycalciferol by the enzyme immunoassay. The molecular genetic stage was represented by genotyping of the VDR gene BSMI (283 G>A) polymorphisms. At the final stage, the obtained results were processed using Microsoft office applications (Excel spreadsheets and the STATISTICA 10 program) using parametric and nonparametric methods depending on the distribution of a characteristic. Results. The A/A genotype of the VDR gene BSMI (283 G>A) polymorphism is a candidate for the development of CLD in children. The homozygous genotype A/A can be considered as protective in the implementation of severe exacerbation of the bronchopulmonary process, contamination and chronic seeding of highly pathogenic microflora in the biotope of the respiratory tract, inflation of pulmonary functional parameters and associated with a decrease in serum calcidiol values below 20 ng/mL in children with chronic lung diseases. The association of the major genotype G/G of the VDR gene BSMI (283 G>A) polymorphism with hereditary diseases of the bronchopulmonary system in females, with moderate exacerbations, a highly pathogenic profile of the respiratory tract microbiota, with a moderate incidence of irreversible morpho-functional changes in the form of bronchiectasis, a decrease in serum calcidiol level in the range of 21-30 ng/mL, in children with chronic lung disease was revealed. Conclusion. Thus, it was determined that the BSMI polymorphism (283 G>A) of the VDR gene is one of the possible polymorphisms that has a phenotypic effect on the course of chronic bronchopulmonary diseases in children.

Background. Personalized prescription of antipsychotics is being actively studied today. But pharmacodynamic genetic factors have been studied to a lesser extent. Previously, a significant association of the HTR2A rs6313 polymorphic variant with the parameters of the efficacy and safety of antipsychotics in adult patients was established. Further research on this biomarker in adolescents who need to take antipsychotics for an acute psychotic episode is required. Methods. The study included 101 adolescents with an established diagnosis of acute polymorphic psychotic disorder at admission (F23.0-9 according to ICD-10). All patients received an antipsychotic medication as their primary therapy. The patients were followed-up for 14 days. The effectiveness of antipsychotics was assessed using the CGAS, PANSS, CGI-S, and CGI-I scales. The safety of pharmacotherapy was assessed using the UKU SERS, SAS, BARS scales. A scraping of the buccal epithelium was obtained from each patient, from which DNA was extracted by the sorbent method, and the carriage of the HTR2A rs6313 polymorphic variant (T102C) was detected by real-time polymerase chain reaction. Statistical analysis was carried out using the SPSS Statistics 21.0 software. Results. Patients with CC+CT genotypes more often complained of increased sleep duration (24.4% versus 0%; p=0.006) and tremor (35.9% versus 4.3%; p=0.003). Patients with CC+CT genotypes had significantly less severity of akathisia according to the BARS scale. Compared with TT homozygotes, the objective subscale BARS score (0 [0; 0] versus 0 [0; 1]; p=0.029) and the overall akathisia score (1 [1; 1] versus 1 [1; 2]; p=0.023) were lower. Analysis of the effectiveness of therapy depending on the HTR2A rs6313 carriage did not establish statistically significant differences. Carriers of CC+CT genotypes showed a lower PANSS “General symptoms" subscale score at the level of tendency to significance compared to TT homozygotes (28.37+7.64 versus 31.39+7.1; p=0.051). Conclusion. Carriers of the C allele HTR2A rs6313 were less likely to be associated with symptoms of akathisia. Carriers of the TT genotype were less likely to experience side effects that patients feel subjectively - tremor and increased sleep duration. There were no significant associations between HTR2A rs6313 and antipsychotic efficacy parameters.

Background. Currently, the study of the genetic basis of the immune response in peptic ulcer disease in children, in particular the interleukin-1e gene polymorphisms, makes it possible to expand the etiopathogenetic understanding of the disease and identify genetic risk factors for certain complications and variants of course, which can contribute to a personalized approach to the treatment of disease. Objective. Evaluation of the effect of interleukin- (IL-1/3) gene -511c/t polymorphism on the course of duodenal ulcer (DU) and erosive gastroduodenitis (EGD) in children. Methods. A total of 100 patients with erosive and ulcerative lesions of the gastroduodenal zone (main group) including 46 children diagnosed with DU (subgroup 1) and 54 with EGD (subgroup 2) were examined. The mean age at diagnosis was 8.14±0.25 (3-17 years) years. The control group for genetic studies included 100 healthy residents of Astrakhan. For molecular genetic analysis, total DNA was isolated from whole blood using the standard phenol-chloroform extraction method. Genotyping of polymorphic markers of the studied gene was carried out using polymerase chain reaction and analysis of restriction fragment length polymorphism. Statistical analysis was performed using the Statistica for Windows software package. Results. The influence of IL-1fi-511c/t polymorphism on the features of the clinical picture and the course of EGD and DU in children was studied. It has been proven that the T/T genotype predisposes to the development of DU and is associated with the onset of the disease at an early age. Associations of the C/T genotype with the typical phenotype of diseases were revealed, while with the C/C genotype, a high significance of the hereditary factor in the development of the disease was noted. Conclusion. It was found that the studied the IL-1fi gen polymorphism is part of the genetic component of susceptibility to DU in children, and influences the age of implementation and the phenotype of the disease.

Currently, infectious diseases remain relevant, vaccination against which has long been carried out all over the world. According to Rospotrebnadzor, there has been a decrease in the incidence of infectious diseases in the Russian Federation during the pandemic of a new coronavirus infection over the past year. An important role in this was played by restrictive measures introduced to reduce the number of personal contacts between people. However, cases of measles and mumps are still registered on the territory of our country, despite the decrease in the phenomena of migration and emigration. This allows to suggest an insufficient coverage of vaccination of the population against these infections, an underestimation of unvaccinated individuals, or an insufficient level of production of protective antibodies that would avoid the disease.

Preventive measures are one of the promising areas in the fight against respiratory infections. Barrier for the prevention of contact with the pathogen is a definite possibility of prevention. Local intranasal application of micronized cellulose and wild garlic extract (Alliumursinum) during the season of acute respiratory viral infection (ARVI) is safe and leads to a decrease in morbidity, and in case of illness, it helps to shorten the duration of ARVI and alleviate the severity of symptoms.

The article presents a clinical view of the problem of magnesium deficiency in children and adolescents. The need for diagnosis, treatment and prevention of magnesium deficiency is discussed. Much attention is paid not only to the prevalence and consequences of magnesium deficiency in childhood, but also to long-term consequences, including a high risk of somatic diseases, psychological disorders and low stress resistance in adulthood. Methods of non-drug and pharmacological correction of magnesium deficiency, doses and duration of therapy are presented.