Pediatrics. Consilium Medicum

The global prevalence of tobacco and nicotine-containing product use has now reached epidemic proportions, a problem particularly relevant when it comes to adolescents. Major trends in the prevalence of tobacco use among adolescents include the flattening of gender differences, the decreasing age of initiation of smoking, and the emergence of alternative uses of nicotine-containing products. The main provisions of the book devoted to tobacco use prevention among children and teenagers as the problem of the present time, edited by professors N.A. Geppe, I.M. Osmanov, N.F. Gerasimenko with the participation of a large group of authors, published in 2021 by MedCom-Pro Publishing House are presented in this work. The issues of negative influence of tobacco and nicotine-containing products not only on the somatic state of teenage smokers but also on their psychological status are reflected. Health risks associated with smoking electronic cigarettes and vape cigarettes by adolescents are described, and the correlation between smoking electronic cigarettes by adolescents and the use of other psychoactive substances is noted. As an example of Russian experience of express-prevention of smoking among adolescents the program developed at the Department of Children's Diseases of Sechenov First Moscow State Medical University (Sechenov University) by candidate of medical sciences N.G. Mashukova, candidate of medical sciences, "PARUS" (Teenage Anti-Smoking Russian Universal Training System), gave recommendations on prevention of tobacco smoking in children and teenagers in conditions of real pediatric practice, noted that introduction into practice of anti-smoking programs aimed at development of motivation to quit smoking is the most perspective measure in prevention of tobacco smoking in teenagers today.

Bronchial asthma (BA) is a disease that is one of the most frequent chronic diseases of childhood. Characteristic clinical symptoms of BA are wheezing, cough, difficulty in breathing, shortness of breath and, of course, recurrent episodes of bronchial obstruction. They require mandatory clarification of family and individual allergoanamnesis, assessment of symptoms, differential diagnosis with other diseases that may occur with BA. The Global Initiative for the Treatment and Prevention of Bronchial Asthma (GINA 2020–2021) preserves and develops the ageappropriate approach to verification of diagnosis and therapy selection, which is supported in the Russian National Program "Bronchial Asthma in Children" and in the Russian clinical guidelines "Bronchial Asthma 2021 When the diagnosis of BA is made, therapy should be started as early as possible. Administration of low-dose inhaled glucocorticosteroids (IGCS) immediately after the diagnosis allows not only to control the inflammatory process, which is the basis of BA, but also to reduce the severity of exacerbations. IGCS are the most effective drugs for children of any age, they ensure control of the disease and reduce the risk of AD exacerbations.

Significant progress has been made over the past decade in the treatment of allergic diseases such as atopic dermatitis and bronchial asthma. Dupilumab, which targets interleukin IL-4 and IL-13, has become an innovative targeted therapy. Immunobiologic therapy with the interleukin inhibitor is indicated for patients with moderate to severe uncontrolled atopic dermatitis, moderate to severe eosinophilic phenotype of uncontrolled Bronchial asthma and patients with poorly controlled severe chronic polyposis rhinosinusitis. A clinical case and recent data on the use of dupilumab for the treatment of type 2 inflammatory disease and prospects for its use are discussed.

In recent years, there has been a sharp increase in the incidence of allergic diseases (ADs), mainly in countries with a high level of development. Particularly noted is the increase in the prevalence of AZs in young children, among which cutaneous and gastrointestinal manifestations of allergy are the most common. These include atopic dermatitis (ATD), urticaria, gastrointestinal manifestations associated in most cases with food allergy, as well as contact allergic dermatitis, and insect allergy. The leading mechanism of development is immunoglobulin E (IgE)-mediated reactions. There are three main factors that predispose to AZ: genetic, direct contact with an allergen, and external environmental factors. The article deals with the causes, manifestations, therapy and diagnosis of a number of allergic diseases: urticaria, allergic contact dermatitis, insect allergy and some methods of therapy.

Aim. To study the characteristics of resistance/sensitivity to normobaric hypoxia in 50 children with bronchial asthma (BA) from 9 to 12 years old, 24 of them after a previous coronavirus infection СOVID-19.

Materials and methods. A normobaric hypoxic test (HT) was carried out by creating hypoxemia (threshold level SpO2 80%) during mask inhalation of a gas mixture with 10–11% O2 by a child using a ReOxy Cardio apparatus (Ai Mediq S.A., Luxembourg). The data obtained were compared with the results in a group of healthy children the same age.

Results. It was found that the integral level of hypoxic resistance of children with BA was generally lower in comparison with the group of healthy children, which was manifested in lower values of the hypoxic index (3.1±1.4, in the group of healthy children – 4.9±2.8, p=0.005), a significantly increased level of tachycardia and a hypotonic response to dosed hypoxia.

Conclusion. When typing reactions to HT, it was found that in children with BA, the type of low resistance to hypoxia is more common (to a greater extent in children with BA after a coronavirus infection), which confirms the need to involve such children in comprehensive rehabilitation programs.

Interview with Valery M. Svistushkin, MD, Professor, Director of the Clinic of Diseases of the Ear, Throat and Nose and Head of the Department of Ear, Nose and Throat Diseases of the I.M. Sechenov First Moscow State Medical University, Chief Outpatient Otorhinolaryngologist of the Central Federal District of Russia

Mother's milk is a unique product for children in the first and second year of life. In addition to the components that provide the energy needs of the baby, breast milk contains many biologically active compounds, microorganisms, stem cells that influence the maturation of organs and systems, including the immune system. Even in the most advanced artificial formula, it is impossible to replicate the composition and effects of breast milk completely. Nevertheless, it is possible to introduce some components into the formula that have a positive effect on the developing immune system. These include fat components, in particular long-chain polyunsaturated fatty acids and β-palmitate, nucleotides, the most valuable of which are adenosine, guanine, uridine, cytidine and inosine monophosphates, oligosaccharides, probiotics, macro- and microelements. Goat's milk is an attractive natural product for the production of quality infant formula. Enriching milk formulas based on goat's milk with components with immunomodulatory functions homologous to those of breast milk makes it possible to significantly reduce the adverse effects of artificial feeding of infants, as well as to achieve a positive immunomodulatory effect. Kabrita® adapted goat milk formula contains all the beneficial natural components of goat milk, adapted by the manufacturer according to the protein, fat, carbohydrate, micro- and macronutrient composition, with the addition of probiotic complex BB-12 and lipid complex DigestX®.

Background. Disorders of sex development (DSD) are a group of rare congenital conditions. Clinical management of patients with DSD is often difficult and requires multidisciplinary approach.

Aim. Analysis of the frequency of establishing genetic causes in various forms of DSD by using an original targeted sequencing panel with subsequent establishment of associations of the identified genetic variants with the nature of clinical manifestations.

Materials and methods. Conducted a clinical examination, karyotype analysis followed by the next generation sequencing (NGS) using MiSeq (Illumina) with the twenty-eight patients with different forms of 46, XY DSD were included. We designed HaloPlex (Agilent) gene panel that included coding regions of 80 candidate genes associated with DSD. All variants identified by NGS were confirmed by Sanger sequencing. We performed bioinformatics analysis using OMIM, “1000 genomes”, ESP6500, Genome Aggregation Database projects. To assess the clinical significance of the identified variants we used ClinVar database and American College of Medical Genetics and Genomics criteria.

Results. Out of 28 patients pathogenic, likely pathogenic, variants with unknown significance were identified in 11 patients (39%). In combination with clinical phenotype these variants were determined as causative for DSD. Nine patients (82%) had likely causative variants in one gene (of monogenic origin), while 18% had variants in two genes simultaneously (of oligogenic origin). 43% of the identified gene variants have not been previously reported. The variants in NR5A1 were associated with gonadal dysgenesis in two patients; the variants in MAP3K1 were also found in another two patients with gonadal dysgenesis, variants in AR – in three patients with CAIS, variant in MAMLD1 was associated with proximal form of hypospadias, variant in CYP17A1 was associated with testosterone biosynthetic defect. Among the two patients with variants of oligogenic origin, one had variants in MAP3K1 and MAMLD1 genes and was clinically characterized by hypospadias; the second had variants in AR and SEMA3A and was diagnosed with PAIS. There were also two patients with variants in NR5A1 of familial inheritance.

Conclusion. NGS-based targeted sequencing is a promising technique to improve the differential diagnosis, genetic counseling and management strategies for patients with DSD. Complex clinical examination followed by molecular genetic analysis improves the diagnosis, genetic counseling, and management strategies for patients with DSD including the assignment of sex of rearing.