Ventricular tachycardia is a rare but potentially life-threatening arrhythmia. Ventricular tachycardia in patients with structural pathology and cardiac channelopathies is associated with the highest risk of sudden cardiac death. The stratification of patients depending on the risk of developing a life-threatening arrhythmia determines the choice of treatment method. Left cardiac sympathetic denervation is a surgical method of treatment aimed at preventing attacks of ventricular tachycardia. The antiarrhythmic effect of sympathetic denervation has been proven in both experimental and clinical studies. Currently, the technique of left cardiac sympathetic denervation consists of a video-assisted sympathectomy by thoracoscopic access, which makes the procedure safe and effective. Left cardiac sympathectomy is used in the treatment of patients with recurrent ventricular tachycardia despite adequate medical therapy. The authors recommend the use of left cardiac sympathectomy in those types of channelopathies, in which stress is the main proven provoking factor of ventricular tachycardia.

The review presents literature data on tubulopathies with hypokalemic alkalosis: Bartter and HELIX syndromes. Orphan Bartter syndrome with autosomal recessive (types I, II, III, IV, V) or X-linked recessive types of inheritance (type V) due to mutations in the SLC12A1, KCNJ1, CLCNKB, BSND, CLCNKA/CLCNKB, MAGED2 genes, causing impaired reabsorption ions K+, Na+, Cl-, Ca2+, Mg2+ in the thick ascending loop of Henle and in the distal convoluted tubule, characterized by hypokalemia, metabolic alkalosis, hyperreninemia and secondary hyperaldosteronism, high PgE2 levels against normal or low blood pressure, hyperplasia of the juxtaglomerular apparatus, nephrocalcinosis with I, II, V types. A new tubulopathy HELIX syndrome is described in detail, the name is formed by the first letters of symptoms (Hypohidrosis, Electrolyte imbalance, Lacrimal gl and dysfunction, Ichthyosis, Xerostomia), due to mutations in the CLDN10 gene encoding Claudin-10b necessary for paracellular reabsorption of Na+ in the thick ascending part of the loop of Henle and exocrine glands. HELIX syndrome is manifested by extrarenal symptoms (dysfunction of the salivary, sweat, lacrimal glands with impaired secretion of water into saliva, sweat — hypohidrosis and tears — alacrima) and renal (hypokalemia, hypermagnesemia, less often hypercalcemia, metabolic alkalosis, hypocalciuria).

One of the frequent causes of massive obstetric bleeding is placenta accreta, an unpredictable and iatrogenic pathology, where maternal mortality varies from 7 to 52%. The purpose of the study: to assess the condition of newborns from pregnant women with placenta accreta.
Material and methods. Seventy pregnant women and their 70 newborns were examined, of which: 40 with placenta accreta and their 40 newborns who made up the 1st group; 30 healthy pregnant women and their 30 newborns who made up the 2nd control group. A retrospective analysis of the course of gestation and perinatal outcomes was carried out. Questionnaire charts were compiled to collect obstetric, gynecological and somatic history. The assessment of newborns was carried out on the Apgar score at the 1st and 5th minutes. Ultrasound and neurosonography of newborns were used.
Results. Analyzing the results of the study, it was found that women with placenta accreta often have a violation of utero-placental-fetal circulation, childbirth ends prematurely, while premature babies are often born in a state of asphyxia. These children have a high incidence of neurological disorders, more complex postnatal adaptation is observed, and concomitant pathology is more often detected.
Conclusion. It is possible that the high frequency of asphyxia and neurological diseases in children born to women with placenta accreta is associated with a violation of utero-placental-fetal circulation during pregnancy and a prematurity. These data are very important not only for obstetricians making it possible to develop tactics for the management and delivery of a pregnant woman with placenta accreta, but also for neonatologists to correctly assess the condition of the fetus, determine the tactics of management and treatment of newborns, as well as including them from an early stage in a high-risk group for neurological disorders.

Marfan syndrome is often found in clinical practice, first of all, by pediatricians, cardiologists, orthopedists, ophthalmologists. The disease is caused by heterozygous mutations of the FBN1 gene. This gene encodes the fibrillin-1 glycoprotein, which is a component of elastic microfibrils of connective tissue. Based on the examination of adult patients with Marfan syndrome, it was suggested that the variability of the clinical symptoms is apparently largely due to the nucleotide variants of the FBN1 gene.
Purpose. Comparative analysis of clinical and genetic data of a group of children with molecularly and genetically confirmed Marfan syndrome.
Results. Examination of 55 children showed that the clinical picture of Marfan syndrome is characterized by various symptom complexes. The most severe form of the disease with the presence of a triad of cardinal signs (aortic dilatation, ectopia lentis, skeletal disorders) was diagnosed in less than 1/3 of cases. In more than 2/3 of patients, individual cardinal manifestations were absent, making the symptom complex incomplete. According to the molecular genetic results, the patients were divided into 2 groups: 31 children had FBN1 gene mutations leading to haploinsufficiency, or loss-of-function (LoF) mutations; 24 children had FBN1 gene mutations with a dominant negative effect. Comparison of clinical and genetic data of patients of these two groups showed that LoF mutations were significantly (p<0.05) associated with the indicator of involvement in the pathological process of connective tissue, with an earlier manifestation of pathology of the visual organ and at the same time with the absence of ectopia lentis.
Conclusion. Further analysis of clinical and genetic relationships is required to develop criteria for predicting the course of Marfan syndrome and substantiating medical observation of patients.

Controlled studies of the impact of allergen-specific immunotherapy on the quality of life of patients provide mixed results. Purpose. To evaluate the quality-of-life dynamics in children with bronchial asthma during 3 years of treatment with allergen immunotherapy with house dust mite allergens and one year after its completion.
Material and methods. In an open-label, five-year prospective study, the clinical efficacy of allergen immunotherapy and quality of life were assessed using a validated PAQLQ(S) questionnaire at the end of the baseline year (before starting allergen immunotherapy), at the end of each of allergen immunotherapy year, and at the end of the follow-up year. The study was completed by 25 patients of the main group (16 boys, 9 girls aged 8.3 [6.7; 11.5] years at inclusion) with moderate bronchial asthma in 17 children (68%), mild bronchial asthma in 8 children (32%), and 25 children of the comparison group (who received a similar amount of pharmacological therapy but not allergen immunotherapy), matched as pairs-copies to the children of the main group.
Results. During the first two years of allergen immunotherapy, changes in the level of quality of life were multidirectional. By the end of the third year of allergen immunotherapy, there was a trend towards an improvement in overall quality of life and a decrease in the effect of bronchial asthma symptoms upon quality of life. A year after allergen immunotherapy completion in the main group, a significant increase in overall quality of life was noted, in comparison with the level of quality of life before the start of treatment (p=0.03) and in comparison with the level in the comparison group (p=0.046).
Conclusion. The data obtained objectively indicate an increase in quality of life in children with asthma as a result of a full course of allergen immunotherapy. The achieved positive results were maintained for at least 1 year after the end of treatment.

The intercellular matrix in bronchial asthma is involved in both reversible and irreversible processes of structural change. Markers of endothelial disorders, indicators of extracellular matrix structures may have diagnostic significance.
Purpose. To study the clinical significance of markers of collagen genesis and plasma endothelin-1 in bronchial asthma in children, depending on the severity and duration of the disease.
Material and methods. 268 patients aged from 2 years 11 months to 17 years 11 months with an established diagnosis of bronchial asthma with varying degrees of severity were examined. The ELISA method determined the serum levels of the following indicators: antibodies to type I and type III collagen, plasma endothelin.
Results. There was a significantly significant increase in fibroblast growth factor, type I collagen antibodies in children with severe bronchial asthma.
Conclusion. These indicators are a diagnostic marker for a severe bronchial asthma.

Ursodeoxycholic acid is a secondary bile acid (BA), present in humans at low concentrations, with well-known therapeutic properties, and was originally used to treat cholestatic liver disease. However, there are very few studies on the effect of ursodeoxycholic acid on the composition of the gut microbiota, especially in children with chronic liver diseases.
Purpose. To determine differences in the taxonomic diversity of the fecal microbiota in children with chronic liver disease who receive or do not receive ursodeoxycholic acid.
Material and methods. A metagenomic analysis of the intestinal microbiota of 24 children with chronic liver diseases (mean age 10.3 ± 4.7 years) was carried out with the identification of the V3–V4 region of the 16S rRNA gene. The group included 18 children with autoimmune liver diseases and 6 children with non-autoimmune liver diseases. 17 children received ursodeoxycholic acid. The comparison group consisted of 7 children who did not receive ursodeoxycholic acid.
Results. This study found that fecal samples from patients treated with ursodeoxycholic acid do not differ in the taxonomic diversity of the gut microbiota from samples from patients not treated with ursodeoxycholic acid. A more detailed study to determine the existing taxonomic diversity in samples of patients treated with ursodeoxycholic acid and not treated with ursodeoxycholic acid, using the sPLS-DA method, showed that taxa such as Streptococcus anginosus, Coprococcus eutactus, Desulfovibrio desulfuricans, Angelakisella massiliensis and Gemella haemolysans dominated in patients not treated with ursodeoxycholic acid. And for patients receiving drugs with ursodeoxycholic acid, the dominance of the taxon Anaerostipes hadrus is typical. An analysis of differences in the percentage of intestinal microbiota bacterial species showed that patients receiving ursodeoxycholic acid had a higher count of Anaerostipes hadrus, while in patients not receiving ursodeoxycholic acid preparations, the count of Bacteroides dorei, Akkermansia muciniphila was significantly increased, and the counts of other bacteria were also increased.
Conclusion. Studies have shown that ursodeoxycholic acid has a positive effect on the intestinal microbiota in children with chronic liver disease by increasing the number of microorganisms that produce short-chain fatty acids.

The issue of erosive and ulcerative lesions of the stomach and duodenum is an urgent task for scientists, because, despite numerous studies and undoubted achievements in pediatric gastroenterology, many issues of etiopathogenesis are still not fully resolved and the incidence is steadily increasing.
Purpose. To evaluate the risk factors for the occurrence of erosive and ulcerative lesions of the upper digestive tract in children.
Materials and methods. We examined 1405 children from 2 to 17 years old with erosive and ulcerative lesions of the gastroduodenal zone, who were treated at the Department of Gastroenterology of the National Center for Maternal and Childhood Welfare (Kyrgyzstan) from 2010 to 2021. The study was conducted by questioning patients and their parents using a study-specific chart. The results were subjected to special statistical processing to study the rank significance of risk factors.
Results. During the study, it was found that the first place is occupied by the pathology of the gastrointestinal tract up to 1 year, then, in terms of rank significance (in descending order of the OR value), the quality of nutrition, viral hepatitis А, diet, gastrointestinal diseases in relatives, pregnancy, neonatal pathology, and feeding follow.
Conclusion. These facts are important for studying the processes of etiopathogenesis of erosive and ulcerative lesions of the gastrointestinal tract in children, which will later become the basis for creating an algorithm for managing this category of patients at all levels of healthcare.

Hepatic fibrosis, liver cysts, and portal hypertension are extrarenal manifestations that determine the prognosis of autosomal recessive polycystic kidney disease in children.
Purpose. To assess the features of the manifestation and course of liver cystic disease and fibrosis, the development of portal hypertension in the follow-up medical history of children with autosomal recessive polycystic kidney disease.
Material and methods. We studied 27 children with autosomal recessive polycystic kidney disease, with two children with a fatal outcome in the neonatal period excluded. 25 children 1–17 years old with autosomal recessive polycystic kidney disease were divided into 2 groups depending on the presence of portal hypertension syndrome. In the long-term follow-up 10 (40%) of 25 children with autosomal recessive polycystic kidney disease had no signs of portal hypertension (group 1), 15 (60%) children had portal hypertension syndrome (group 2). The long-term follow-up, clinical, genealogical, laboratory and instrumental (US, MRI/CT of kidney and abdominal cavity, liver elastography) research methods were used in the study. The diagnosis was confirmed by autopsy for 3 children.
Results. There were no cases of changes in the liver and bile ducts characteristic of autosomal recessive polycystic kidney disease by prenatal ultrasound examination. From 27 children with autosomal recessive polycystic kidney disease, in 10 (37%) were diagnosed the liver fibrosis in the long-term follow-up, 22 (81%) had cystic enlargement of intrahepatic veins, of which 15 (68%) had polycystic liver disease, 3 (14%) had Caroli disease. All children with autosomal recessive polycystic kidney disease and portal hypertension syndrome had varicose veins of the esophagus and stomach according to esophagoduodenoscopy, 53% with indications for ligation of phlebectasia, 47% were diagnosed with thrombocytopenia, 67% with anemia, 100% with splenomegaly, 13% with esophageal-gastric bleeding.
Conclusion. The differences in the initial manifestations of autosomal recessive polycystic kidney disease were revealed, while no differences in the incidence of hepatic fibrosis and liver cysts were found in 2 compared groups of children.

In terms of a glomerular injury research model, idiopathic nephrotic syndrome is the most prominent example. Worldwide, nephrotic syndrome is a socially significant disease and is considered one of the most common glomerulopathies in childhood, leading to the development of chronic kidney disease, and in the case of progression of the disease, to the formation of terminal chronic renal failure. This article presents data from our own study and discusses epigenetic markers of podocyte repair in children with primary nephrotic syndrome. We noted that in patients with steroid-sensitive variants of nephrotic syndrome, the expression of the WT1 (podocyte transcription factor) and NPHS1 (the gene encoding nephrin — a transmembrane protein that is a structural component of the slit diaphragm of the podocyte) genes is significantly higher than in the control group and in children with steroid resistant nephrotic syndrome. The data obtained open up prospects for the development of a personalized approach to the management of children with primary nephrotic syndrome by determining the markers of the staging and/or severity of the pathological process occurring in the glomeruli. Currently, genomic and post-genomic technologies are increasingly being used in clinical practice, which will eventually lead to the development of personalized diagnostic panels based on innovative technologies.

Epilepsy is a chronic brain disease and one of the most common neurological diseases in the world, manifested by sudden seizures due to increased paroxysmal activity of neurons. There are no published studies aimed at assessing the dynamics of motor development in young children suffering from epilepsy with motor disorders.
Purpose. The paper aimed at studying the dynamics of motor function indicators in patients with epilepsy on the background of movement disorders during three courses of rehabilitation treatment.
Material and methods. We studied 123 young children with epilepsy and motor disorders. Age ranged from 9 months to 24 months. All patients were divided into 3 groups: group 1 patients who received only general massage, group 2: patients who received Vojta therapy, group 3: patients who received massage and Vojta therapy. The duration of remission for clinical seizures in all groups was at least 3 months, remission for video EEG monitoring in all patients was 23 months. Three courses of medical rehabilitation were carried out with an interval of 2 to 5 months for 1015 sessions of 2530 minutes daily. The dynamics of motor development of patients and the effectiveness of medical rehabilitation were assessed using the GMFCS scale, before and after each course of medical rehabilitation.
Results. After the first course of rehabilitation, almost no improvement was observed and was unreliable, while after the second course there was a significant positive trend, especially pronounced in group 3. At the same time, the growth of the scale indicators in the period from the end of the first course to the end of the third was almost linear.
Conclusion. The data obtained indicate the presence of a certain rigidity of the motor system of such patients, which determines the minimum dynamics after the first course of rehabilitation. Only starting from the second course, we begin to notice a linear improvement in the indicators of motor functions. The preferred duration of the interval between courses, in our opinion, is not less than two and not more than three months.

The article presents a clinical case of metabolic hypertrophic cardiomyopathy against the background of a late-onset form of Pompe disease, illustrating the difficulties of differential diagnostic search for the cause of the disease. The clinical, laboratory and genetic aspects of the diagnosis of Pompe disease are highlighted. The features of laboratory diagnostics, the difficult path to the correct diagnosis and the appointment of enzyme replacement therapy are discussed. Much attention is paid to the clinical symptoms of the disease — the most significant damage to the cardiovascular system, there is no damage to the musculoskeletal sphere. Clinical picture of late Pompe disease is presented: cardiac rhythm and conduction disorders (ventricular preexcitation syndrome — multiple additional atrioventricular fenestrations), unstable ventricular tachycardia, supraventricular tachycardia, sinus node weakness syndrome. Considered approaches to the prevention of sudden cardiac death the patient underwent surgical treatment: radiofrequency ablation, endocardial implantation of a cardioverter defibrillator. Pathogenetic therapy for Pompe disease has been started.

This paper presents the possibilities of using the Information and Analytical Platform “Digital Phenotype” for a formalized quantitative description of the clinical manifestations of hereditary diseases in children based on deep phenotyping in order to analyze and identify geno-phenotypic correlations, form registers of hereditary diseases and improve the reliability of predicting the course of these diseases. The platform was developed on the basis of the combined use of expert deep phenotyping of a number of rare hereditary disabling diseases manifesting in childhood and modern information technologies for building web applications that allow entering and assessing the severity of phenotypic features, checking the correctness of the input data, forming search queries, exporting chosen digital data. The software design technology is based on the architecture of a relational data model using a cross-platform solution based on the Laravel-AngularJS-mySQL stack. The results of the application of statistical methods for the analysis of geno-phenotypic correlations are presented on the example of identifying the connection of lens dislocation with the presence of a missense mutation in Marfan syndrome. It was shown that in children with mutations at the C-terminus of the MECP2 protein, the level of blood phosphates is lower than in patients with mutations at the N-terminus of the protein.

Chronic kidney disease and a decrease in its progression is a global health problem. However, the risk factors associated with the primary nosology of glomerular diseases of children have not been sufficiently studied.
Purpose. To determine early risk factors for the progression of chronic kidney disease for more effective prevention of chronization of the process, based on the analysis of clinical and anamnestic data, the features of the manifestation of the primary developed glomerular pathology, and taking into account nosological forms.
Material and methods. The experience of own clinical observations, retro- and prospective, related to the formation of chronic kidney disease of children with glomerular pathology is summarized. The study was conducted on the basis of the children’s uronephrological center of the Samara Regional Clinical Hospital named after V.D. Seredavin.
Results. The universal risk factors are systematized: transferred critical conditions in the perinatal period with the development of acute kidney injury; prenatally established CAKUT syndrome; the presence of a genetic predisposition to kidney diseases, a complex of allergic diseases in the family; the carriage of persistent infections, hemolytic strains of streptococcus, social determinant, environmental conditions, etc. Specific early risk factors for disease progression, features of the onset of kidney pathology and biomarkers of progression that determine early kidney damage have been identified. The features of nephroprotection are formulated: interdisciplinarity with the inclusion of organizational, social components; operational communication with the outpatient link; the use of social networks for educational processes — the patient’s family, training of first-contact doctors.

April 17 marks World Hemophilia Day. The date is dedicated to the birthday of Frank Schnabel, the founder of the World Federation of Hemophilia. And on this day and on other days, the medical community is called upon to draw attention to the problems of people suffering from blood clotting disorders — one of the central ones in hematology. Hemophilia, although one of the most common genetically determined blood coagulation disorders, is considered a RARE (orphan) disease. The disease manifests itself in early childhood, clinically has two of the most common variants of the disease: hemophilia A and hemophilia B. Diagnosis requires mandatory laboratory confirmation of the genetic absence or decrease in the concentration of FVIII for hemophilia A and FIX for hemophilia B. In recent years, the introduction of domestic recombinant coagulation factors into practice has made it possible to significantly optimize replacement therapy in children with hemophilia, and in the context of increasing Western sanctions, to ensure children of Russia with the necessary means of urgent care and prevention, which are not inferior to the best foreign analogues. New therapy principles that are actually changing the principles of treatment include non-factor drugs and gene therapy options for both hemophilia A and hemophilia B.

Among the wide variety of tree nuts, walnut is an allergen that deserves special attention in the context of acute allergic reactions, due to their severity, low inducing trigger dose, and minimal likelihood of developing tolerance. The overall consumption of walnut has been steadily increasing, while the importance of this allergen as a trigger for anaphylaxis is underestimated due to its often “hidden” presence in foods and the difficulty of trigger verification. This article presents the epidemiological aspects of walnut food allergy, provides current data on the molecular characteristics and properties of various allergen proteins, and their clinical significance for the development of anaphylaxis. The article is supplemented with two clinical cases of food anaphylaxis to walnuts from own clinical practice.