The study of the genetic aspects of hearing loss is an important area in medical genetics and pediatrics. Congenital sensorineural hearing loss can manifest itself in various forms and degrees of severity and in some cases is associated with various genetic syndromes. Studying the genetic nature of hearing loss makes it possible to better understand it and develop effective diagnostic and therapeutic approaches. The purpose of the study: to study the genetic causes of SHL (sensorineural hearing loss of children). Material and methods. The examination, analysis of medical histories and results of molecular genetic research (clinical exome sequencing, complete exome sequencing, complete genome sequencing) of patients aged 1-18 years (n=24) with SHL were carried out. According to the results of the work, it was found that 79% of cases of NST are caused by genetic reasons. The most common (n=3) pathogenic variants in the ARID gene associated with Coffin-Siris syndrome of various types, for which NST is a characteristic feature, were found. NST is a typical sign of diseases such as Kabuki syndrome, Pendred syndrome, KBG syndrome, mucopolysaccharidosis of Type 1, primary ciliary dyskinesia which were diagnosed in the examined patients. Also, pathogenic variants of various genes were quite common (n=6), leading to impaired development of the nervous system and encephalopathy. In two cases, mutations in the genes SLC26A4 and GJB2, responsible for the development of nonsyndromic NST, were identified. Conclusion. Sensorineural hearing loss is an indication for a molecular genetic examination. Knowing the cause of NST allows you to make personalized decisions on the treatment and correction of this disease in children.

Acute lymphoblastic leukemia (ALL) is one of the most common malignant diseases of the hematopoiesis system in childhood, characterized by uncontrolled proliferation of a tumor clone from lymphocyte progenitor cells. At the same time, as a result of total immunosuppression, the most common complications are infectious. The purpose of the work: to describe a clinical case of nosocomial pneumonia, formed against the background of chemotherapy relapse of ALL. Materials and methods. A retrospective analysis of the medical records of patient L., 6 years old, who was being treated at the Department of Pediatric Pulmonology of the UKB No. 1 of the Razumovsky SSMU with the main diagnosis: Nosocomial polysegmental pneumonia with obstructive syndrome, acute course. Complications: 1. RF III art., 2. Pulmonary edema, 3. Exudative pleurisy. Background: ALL III phenotype; late bone marrow relapse, isolated (30.12.2022). Results. At the age of 2 (2019) - he made his ALL debut, received induction courses, and achieved remission within the prescribed consolidation period. In 2022, a reinduction course was conducted, and it was removed from the D-register. Relapse of leukemia (28.12.2022) - hospitalized in the V.Ya. Shustov UCB No. 3, 1 block of anti-relapse therapy of ALL in combination with hemotransfusion, massive antibacterial (AB) therapy was performed. On the 23rd day of hospitalization in the hematology clinic, nosocomial 2-sided polysegmental pneumonia was diagnosed, complicated by pulmonary edema, exudative pleurisy, RF III art. On 23.01.2023, the patient was urgently taken to the children’s Intensive care Unit (DORIT) in extremely serious condition UKB No. 1 named after S.R. Peacemakers SSMU, where over the next 15 bed days he received: erythrocyte suspension transfusion, oxygen therapy, combined AB therapy, GCS, bronchodilator and mucolytic therapy, against which the condition improved: symptoms of intoxication, DN were stopped, the inflammatory process in the lungs was resolved. For further treatment of relapse, ALL was transferred to the hematology clinic. Conclusion: The course of chemotherapy for relapse of ALL in the patient provoked a severe infectious complication - nosocomial pneumonia with DN III art., pulmonary edema, pleurisy. Timely diagnosis of pneumonia and intensive therapy in DORIT conditions contributed to a favorable outcome of the infectious process in the lungs. Taking into account the above, the tactics of ALL management were changed - allogeneic transplantation of hematopoietic stem cells from a haploidentical donor (father) was performed, 19.07.2023 - engraftment was achieved.

Angioedema (AO) is a localized transient acute, recurrent edema of the skin or mucous membranes. Vasoactive substances play a key role in the development of AO: histamine, tryptase, prostaglandin, bradykinin, which lead to a reversible increase in endothelial permeability. Usually, the manifestations persist from 2 hours to several days and in most cases disappear without a trace, without additional therapy. ICD-10 CODE: T 78.3 - angioedema, D 84.1 - defect in the complement system. The purpose of the study. The purpose of the study is to study the features of episodic angioedema as a manifestation of parasitic invasion Materials and methods. The clinical case of a 10-year-old boy who was hospitalized in the pediatric department as planned with complaints of recurrent swelling of the eyelids, perianal area, itchy skin, hemorrhagic rashes, abdominal pain was analyzed. These symptoms are noted periodically for 2.5 years. The child’s anamnestic data, allergoanamnesis, gender characteristics, and the structure of the main diagnoses were analyzed. The results of laboratory and instrumental research methods were evaluated (including the level of C1 inhibitor for differential diagnosis with hereditary angioedema). Results. The results of the study. For 2.5 years, the child was periodically hospitalized in various hospitals with symptoms of periorbital edema and abdominal pain. These symptoms persisted from 2 weeks to 2 months. And they were registered with a frequency of 2 months. Blood tests showed an increase in IgE by 10 times, IgG to helminths by 6 times. At normal values of the C1 inhibitor. During the EGDS, a large number of roundworms were discovered. The normal level of the C1 inhibitor, as well as the absence of similar signs of the disease in the child’s closest relatives (autosomal dominant type of inheritance) made it possible to exclude hereditary angioedema with a high degree of probability. Conclusion. The data obtained during the analysis allowed us to conclude that parasitic invasion may be the cause of angioedema in children. Blood eosinophilia, as one of the important indicators of parasitic invasion, may be absent during the long course of infection. The presence of elevated total immunoglobulin E and positive minimum levels of antibodies to helminths in the blood should alert doctors in terms of further search for parasitic invasion.

Shwachman-Diamond syndrome is a rare disease inherited by autosomal recessive type, characterized by exocrine pancreatic insufficiency, bone abnormalities, growth retardation, bone marrow insufficiency with an increased risk of developing myelodysplastic syndrome and acute myeloblastic leukemia. The clinical manifestation of the disease is observed at the neonatal age. Pathology requires lifelong enzyme replacement therapy. The article contains a retrospective analysis of four case histories of children with Shwachman-Diamond syndrome. These clinical cases illustrate the importance of timely diagnosis and treatment of the disease. Early diagnosis and prescription of optimal enzyme replacement therapy contributes to adequate physical development of the child, improving his quality of life and prognosis.

Celiac disease or gluten enteropathy is an immune-mediated disease that occurs in response to the consumption of gluten by genetically predisposed individuals and is characterized by the development of intestinal and extra-intestinal symptoms. According to the World Organization of Gastroenterologists, the frequency of gluten enteropathy in various populations ranges from 1:100 to 1:300. This article describes a clinical case of celiac disease, the only manifestation of which was iron deficiency anemia. Thus, we would like to draw attention to extraintestinal variants of the course of celiac disease in order to timely detect the disease, prescribe a lifelong gluten-free diet and prevent the development of severe complications.

Congenital chloride diarrhea is a genetically determined disease caused by a mutation in the SLC26A3 gene, located on chromosome 7 at the 7q31 locus. It encodes a transmembrane transport protein that is normally present in the colon and small intestine, where it is responsible for the absorption of chloride. Congenital chloride diarrhea is an autosomal recessive congenital disease. Currently, different types of mutations in SLC26A3 have been described. If the gene is defective, protein synthesis is disrupted, as a result the absorption function of the intestinal epithelium decreases, which is accompanied by the development of diarrhea syndrome. This article describes a clinical case of congenital chloride diarrhea. Clinical case demonstrates a late diagnostic, despite the presence of characteristic signs of the disease even at the stage of intrauterine development of the fetus. Early diagnosis and timely start of treatment determine a favorable prognosis of the disease and guarantee the preservation of the patient’s quality of life.

Down’s syndrome is the most frequent chromosomal abnormality. According to the literature, respiratory diseases are the most frequent reasons of hospitalization of children with Down’s syndrome. Also, respiratory diseases are diagnosed for 42% of patients with Down’s syndrome during first two years of life. Objective. Objective is to define features of respiratory diseases course for children with Down’s syndrome to determine the best cure tactics. Materials and methods. Six patients with Down’s syndrome and damage to respiratory system at age of from 2 month to 7 years were under observation. Medical documentation, anamnesis data, CT scan of the thorax organs and objective examination data has been analyzed. Results. Abnormal pregnancy has been confirmed for 4 patients, 50% of patients had been born premature. Congenital heart defects had been diagnosed for 5 patients. Four patients suffered lower respiratory tract diseases with respiratory failure at an early age, cure in intensive care unit or pulmonary department has been required. Later recurrent respiratory diseases were observed. One patient was referred to a pulmonologist by a doctor of another specialty in early childhood. Shortness of breath of mixed or insular type, cough, cyanosis, night apnea, physically observed strengthening wheezing during respiratory infections, for 4 patients - mosaic performance of breathing has been clinically recorded. According to the results of the X-ray examination, the changes are - «ground-glass opacity» - 5 patients, subpleural cysts - 4 patients, uneven ventilation - all. Two patients have radiological evidence of lymphoid interstitial pneumonitis. subsequently all patients were observed by a pulmonologist, prescribed pathogenetic treatment with inhalation glucocorticostroids, and two children received systemic glucocorticosteroids with positive effects. The X-ray dynamics showed a regression of alveolar infiltration for 6-9 months, as well as a decrease in shortness of breath, an improvement in physical activity tolerance, objectively - no strengthening wheezing by four years for 4 patients. Conclusion. Children with Down’s syndrome and respiratory failure from an early age require specialized pulmonological care. Timely diagnosis and optimal therapeutic strategies are critical to ensure treatment outcomes.

Foreign bodies (FB) of the gastrointestinal tract (GIT) are a common problem in childhood, especially among children of younger age groups, due to the peculiarities of children’s development during this period. Purpose. To analyze the characteristics of FB in the gastrointestinal tract and the frequency of their diagnosis in children. Materials and methods. The analysis of the medical documentation of 378 children with an established diagnosis of FB in the gastrointestinal tract was carried out. The diagnosis was based on the results of studies: esophagogastroduodenoscopy, radiography (standard and using a water-soluble contrast agent), ultrasound diagnostics, computed tomography. The results of the study. The distribution of children with FB by age: children under 1 year - 12%, from 1 year to 3 years - 59%, from 3 to 6 years - 24%, 6-12 years - 5%. By gender: boys - 68%, girls - 32%. By localization: FB of the esophagus - 17%, stomach - 80%, duodenum - 3% of children. Characteristics of the extracted items: various small objects (coins, balls, toys) - 53%, batteries - 27%, magnets - 20%. Endoscopic FB was removed in 88% of children, conservative (FB came out naturally) - 10.5%, surgical - 1.5%. Conclusions. FB was most often detected in children aged 1 to 3 years (59%). There are twice as many boys as girls (68% and 32%, respectively). The most frequent localization is the stomach (80%). FB is most often represented by small toy parts, coins (53%), one in five children (20%) has a magnet, and one in four (27%) has a battery. The most common method of FB removal is endoscopic (88%).

The peculiarity of the modern pathology of childhood is the increasing frequency of transition of acute forms of diseases into recurrent and chronic ones and increasing primary chronic pathology. Systematic loads on «endurance» during training determine the necessity to study the possibilities of heart remodelling in school-age children against the background of chronic somatic pathology. Objective: to reveal structural and functional changes of myocardium in schoolchildren with chronic somatic pathology according to echocardiogram examination data. Materials and methods. We analysed 32 echocardiogram results in children aged from 7 to 17 years. The main group (n=16) - children with chronic somatic pathology out of exacerbation, control group (n=16) - children of the 2nd health group. Distribution of chronic somatic pathology in the main group: CNS diseases (n=4), kidney and urinary tract (n=5), GI (n=2), glands of internal secretion (n=3), vascular malformations (n=2). All children underwent echocardiogram examination with analysis of left ventricular ejection fraction systolic and diastolic myocardial function, left ventricular end-diastolic dimension, myocardial wall thickness, valve apparatus, presence/absence of physiological transudate in the pericardial cavity, and presence of small anomalies of cardiac development. Clinical and anamnestic data of the subjects, echocardiogram method and conventional statistical processing of the obtained results using STATISTICA for Windows software system were used to achieve the set goal and solve the research tasks. Results of the study. In the main group left ventricular ejection fraction was 61,8±1,57%, in the control group - 68,25±1,86% (p≤0,05). Left ventricular end-diastolic dimension was normal in both groups (p≥0.05). Concentric myocardial remodelling and increased myocardial wall thickness were found only in the main group in 18.8% (n=3) and 37.5% (n=6) of cases, respectively (p≤0.05). Valve pathology in the main and control groups was 43.8% (n=7) and 18.8% (n=3) of cases. Physiological transudate in the pericardial cavity was noted equally in both groups in 12.5% of cases. Small anomalies of cardiac development were detected in the main and control groups in 31.3% (n=5) and 18.8% (n=2) cases, respectively. Conclusion. Low values of left ventricular ejection fraction and increased myocardial wall thickness indicate a decrease in left ventricular function of the heart and a negative impact of metabolic disorders in children with chronic somatic pathology.

Of particular clinical importance at present is a detailed study of perinatal history, since the pathological obstetric-gynecological, infectious and somatic status of the mother causes dysfunctions in the fetoplacental complex, increases the risk of premature birth, disrupts the vital functions of the fetus and reduces the reserve capabilities of all organ systems in the newborn. Purpose. Analyze obstetric-gynecological, infectious and somatic status of mothers in premature babies, to optimize postnatal observation tactics. Materials and methods. The study included 60 children born prematurely with the determination of the features of obstetric-gynecological, infectious and somatic history of their mothers by retrospective analysis. Depending on gestational age (GV), children were divided into 3 groups: 1 group - GV 34.1-36.9 weeks (20 children); Group 2 - GV 30.1-34 weeks (21 children); Group 3 - GV 26-30 weeks (19 children). Results. The most pronounced burden of obstetric-gynecological and somatic history occurred in mothers in the 2nd and 3rd groups, where the birth of premature babies was significantly more common (23.8%; 31.6%) and abortion (28.6%; 57.9%) in the history. Antenatal fetal death occurred only in mothers in the 2nd and 3rd groups (4.8%; 10,5%). The maximum burden for inflammatory diseases of the sexual sphere occurred in the 3rd group. Infectious pathology of other organ systems, represented by acute gestational or chronic pyelonephritis in the stage of exacerbation, tonsillitis, bronchitis, was significantly more common in patients in the 3rd group (52.6%, 47.4%, 21.1%). Operative delivery in the study groups was quite frequent: 45% in group 1, 47.6% in group 2, 31.6% in group 3, in general - 41.7% of the total number of mothers (including 16% indication for caesarean section had premature placental detachment). Conclusion. Thus, the study of perinatal history revealed the presence of a wide range of pathological factors that aggressively act on the fetus, having both a direct damaging effect on the tissue and disrupting the functional activity of various organ systems.

Intestinal intussusception (IR) is an urgent problem of pediatric surgery. The relevance is high due to the incidence of the disease, which ranges from 1.5 to 4 per 1000 children and tends to increase cases over the past 10 years, as well as diagnostic difficulties and a high frequency of relapses of the disease. The frequency of diagnostic mistakes reaches 75-85%, and the mortality rate for intussusception ranges from 0.5 to 1%, reaching from 6 to 14.5% in complicated forms. The aim of the study is to improve the results of treatment of intestinal intussusception in children by optimizing approaches to diagnosis and tactics of surgical treatment. Materials and methods. Over the past 20 years, 237 children aged 3 months to 12 years were hospitalized in the Department of Emergency Surgery, Specialized Pediatric Surgical Clinic of Samarkand State Medical University, with a diagnosis of intestinal intussusception, of which 116 were confirmed during a clinical examination. Depending on the applied therapeutic and tactical approaches, all examined patients with intestinal intussusception are divided into 2 groups. Group 1 (comparison group) consisted of 43 patients treated in the period from 2000 to 2013. In this group, the diagnosis was based on plain radiography and pneumoirrigoscopy. Group 2 (main group) consisted of 73 patients treated for the period from 2014 to the present. In this group, diagnosis and conservative treatment was based on the method of hydroechocolonographic disinvagination under ultrasound control.

Seronegative autoimmune hepatitis (AIH) is a poorly understood problem in both adult patients and children. The key to the diagnosis of AIH is the presence of circulating autoantibodies, which are not detected in seronegative AIH. There is insufficient data on the contribution of autoantibodies to hepatocyte damage in seronegative AIH. The presence of plasma cells in liver biopsies of patients with seronegative AIH suggests that its pathogenesis involves physiopathological mechanisms similar to those of seropositive AIH. Unlike adults, in whom acute manifestations of the disease are rare, in children’s acute manifestations of seronegative AIH were observed in three quarters of patients. In addition to the absence of autoantibodies, the diagnosis is complicated by the low level of gammaglobulins in the blood in seronegative AIH. In seronegative AIH, hepatitis-associated aplastic anemia often develops. Morphological examination of liver biopsies may reveal infiltration with a predominance of CD8+ T cells. Treatment of seronegative AIH includes immunosuppressive therapy, as for seropositive AIH. The prognosis for seronegative AIH is usually favorable. Although seronegative autoimmune hepatitis is not uncommon, little is known about its diagnosis and treatment.

Purpose: to evaluate the quantitative and qualitative features of the metabolic activity of the intestinal microbiota in patients with obesity. Materials and methods: a comprehensive clinical, laboratory and instrumental examination of 60 children aged 12-16 years was carried out. The main group (n=30) - patients with exogenous constitutional obesity, the comparison group (n=30) - adolescents with normal body weight. The metabolic activity of the intestinal microbiota was assessed by gas-liquid chromatography of a fecal sample with the determination of the relative and absolute values of short-chain fatty acids (SCFAs). Results: All patients with obesity showed a decrease in the concentration of SCFA compared with the comparison group, which indicated a decrease in the metabolic activity of the obligate lactic acid flora and the predominance of the fraction of non-proteolytic anaerobic microorganisms. When assessing the relationship between the lipid spectrum and individual SCFAs and their indices, numerous positive relationships of moderate strength were obtained, which indirectly may indicate the progression of the imbalance of aerobes and anaerobes of the intestinal microbiome with an increase in the degree of metabolic disorders in obese patients. Conclusion: The identified qualitative and quantitative disorders of the intestinal microbiota in obese children are associated with the development of insulin resistance and are a reflection of metabolic endotoxinemia associated with the maintenance of chronic sluggish inflammation in overweight children.

According to modern concepts, chronic gastritis is a group of phenotypically similar diseases, the basis of which is the lesion of the gastric mucosa of different genesis and different regeneration potential. Of particular interest is the group of patients (children in the presented article) in whom gastric mucosa lesions are associated with the current infectious process caused by a combination of two causative factors - Helicobacter pylori (H. pylori) and Epstein-Barr virus (EBV). The data obtained as a result of the study of cellular and humoral immunity, autoimmunity and interferon system show significant disorders of immunological reactivity in children with chronic gastritis associated with H. pylori and VEB. The imbalance of T-lymphocyte subpopulations, impaired function of B-lymphocytes, dysimmunoglobulinemia and pronounced imbalance of interferon system with a significant decrease in induced synthesis of IFN-α and IFN-γ by blood leukocytes were revealed. The suppressive effect of VEB on various links of immunity was proved, which necessitates immunocorrective treatment. The results of the study may indicate the trigger role of VEB in the development of autoimmune gastritis.

Obesity is one of the most pressing problems of modern pediatrics. An important role in its formation is played by an eating disorder (ED). Рurpose. Analysis of the frequency of various types of ED in obese children living in the Moscow region, depending on age and gender. Materials and methods. 150 children with exogenous constitutional obesity (SDS BMI≥+2.0) were examined, 87 of them boys (58%) and 63 girls (42%). Two age groups were identified: group I - age 8-12 years (73 children), group II - age 13-17 years (77 children). The assessment of the NPP was carried out using the Dutch DEBQ eating behavior questionnaire. Results. 89% of the respondents had registered ED. An isolated restrictive type of ED was more often detected (39%), less often a combination of all three types (23%) and a combination of restrictive and emotionogenic types (11%). Monovariants were more often registered in children of group I, and a combination of all three types of ED was more often registered in group II. Regardless of age and gender, the restrictive type prevailed among the monovariants. In children of group I of the combinations, a combination of restrictive and emotionogenic types was more often noted, in children of group II - all three types. Different combinations of the two types were more often registered in girls, whereas of all three types - in boys. Conclusion. ED was registered in the absolute majority of the surveyed obese children living in the Moscow region, regardless of age and gender (89%). The predominance of the restrictive type of ED indicates irrational attempts to control body weight through diet. An increase in the frequency of detection of a combination of all three types in adolescence, mainly in males, indicates a high risk of the possibility of ED transition to psychiatric disorders in this category of patients. It is necessary to use questionnaires in clinical practice for the timely detection of ED in children and correction of therapeutic and preventive measures.

The growing prevalence of type 1 diabetes mellitus (T1D) in the adolescent age group and the deterioration of glycemic control in adolescence set new goals for the search for factors that affect the degree of metabolic compensation in adolescents. The purpose of the study. To compare the features of the personal profile and quality of life (QOL) with metabolic compensation in adolescent children with T1D using new high-tech treatment (NHTT) - flash monitoring of glycemia (FMG), an insulin pump with the function of predictive stop before the onset of hypoglycemia (IPPS). Materials and methods. The study involved 78 children with T1D aged 11-17 years. Group 1 included 30 patients using FMG, group 2 included 48 patients using IPPS. The follow-up period for patients was 3 months from the start of the use of NHTT. Metabolic control (MC) was assessed by the following indicators: glycated hemoglobin (HbA1c) level, time in range (TIR), time above range (TAR), time below range (TBR). The study of personal factors was conducted by testing the "Big Five Questionnaire" (BFQ), the Achenbach questionnaire, and the assessment of quality of life was conducted by the KINDL questionnaire. Results. The distribution of patients in group 1 according to the degree of compensation at the time of inclusion: 24 people had HbA1c>7.0%, 6 people had HbA1c<7.0%. When evaluating the parameters of MC at the 2nd visit after 3 months, patients with HbA1c>7.0% had a significantly higher TAR (p=0.003) and a significantly lower TIR (p=0.006). The method of linear regression revealed a statistically significant association between the severity of the "openness" scale assessed by the BFQ and the HbA1c level (b=-0.2464; p=0.006). There is a statistically significant negative association (p<0.05) between TIR and the presence of aggressive behavior in a teenager (b=-2.754; p=0.028), thought problems (b=3.542; p=0.008), as well as other somatic complaints (b=-4.07; p=0.003). The distribution of patients in 2 groups according to the degree of compensation at 1 visit: 32 people had HbA1c>7.0%, 16 people had HbA1c<7.0%. When assessing MC after 3 months, the group of initially compensated patients had a significantly higher level of TIR (p=0.003). Statistically significant associations were obtained between QOL (the level of physical well-being) and the level of "social problems" (b=-0.88; p=0.001). A statistically significant negative association was established between QOL in terms of "disease" and the scales "conscientiousness" (b=-0.177; p=0.03), "neuroticism" (b=-0.1043; p=0.022), and a positive association with the level of extraversion (b=0.1712; p=0.016). Conclusion. New high-tech diabetes therapies have higher efficacy in previously compensated patients. Adolescents with T1D who have higher intelligence, are more creative, have better metabolic compensation. The presence of a large number of somatic complaints and more aggressive behavior of a teenager is associated with worse metabolic compensation. Glycemic control parameters do not affect the quality of life of adolescents with diabetes. However, some personality traits affect the perception of quality of life.

Purpose. Studying the effect of enteral oxygen therapy (EOT), in the process of rehabilitation, on the regenerative process of the mucous membrane of the gastrointestinal tract in children with chronic gastroduodenal pathology (CGDP). Methods. The clinical observation was based on a randomized study. We examined 286 children with CGDP. The research methods fibrogastroduodenoscopy (FGDS), and tests for Helicobacter pylori infection. Results. Based on the results of the FGDS, we developed a scoring scale for the regeneration process (SSRP) without morphological biopsy. According to the results of the SSRP, in patients with inflammatory processes, after a course of standard inpatient treatment, there was a 3rd degree of regeneration, with ulcerative lesions - 4th degree. After a single rehabilitation course, using EOT, a transition to 1-degree regeneration was noted (6.6±0.77 points), without the use of EOT for 2-degree (10.9±1.23 points). The data indicated a more than 63% increase in reparative-regenerative processes when using EOT. Against this background, there was up to a 2.5-fold decrease in Helicobacter pylori carriage. Conclusions. The use of EOT helps to accelerate regenerative mechanisms of the gastric mucosa by up to 63%, and the implementation of a comprehensive rehabilitation program using EOT contributes to a significant decrease in Helicobacter pylori carriage.

Cholelithiasis has been and remains a frequent socially significant public health problem worldwide. The pathomorphosis of the disease has also undergone significant changes, which has significantly rejuvenated, occurring not only at a young age, but also in childhood. More than 175,000 cholecystectomies are performed annually for cholelithiasis. Cholelithiasis affects 10-20% of the adult population in our country. At the same time, cholecystectomy came in second place after appendectomy. There are no official statistics on the prevalence of GCD in the general population of children in Russia. In the Krasnodar Territory, the incidence of cholelithiasis in childhood, according to the data of circulation, is 1.8-3.3%. Over the past decade, a number of studies have been conducted confirming the role of the microbiota in various parts of the gastrointestinal tract as a new link in the etiopathogenesis of GI. Intestinal bacteria (Clostridium, Bifidobacterium, Peptostreptococcus, Bacteroides, Eubacterium, Escherichia coli), involved in the oxidation and epimerization of bile acids, can disrupt enterohepatic circulation and lead to the formation of gallstones. At the same time, cholecystectomy leads to further transformation of the microbiota composition in various parts of the gastrointestinal tract, increasing the risk of developing stomach cancer and colorectal cancer. Further research is needed to determine the possibility of using the assessment of the composition of the gastrointestinal microbiota as a marker for the early diagnosis of various gastroenterological diseases of cholelithiasis in particular. The purpose of the study: To determine the role of the intestinal microbiota in the development of metabolic disorders in children with cholelithiasis in order to predict the complicated course of the disease. Material and methods. The work was carried out on the basis of the children’s city polyclinic No. 122 Moscow`s Health Department (chief physician - A.I. Bragin), 194 children with housing and communal services were under supervision. The control group consisted of 78 practically healthy children of the I Health group. The study groups were comparable in gender and age. Criteria for inclusion in the study: children with an established diagnosis of cholelithiasis, asymptomatic course at the age of 3 to 15 years. Exclusion criteria from the study: refusal of the child’s legal representative from the study, the presence of diagnosed acute diseases in the child during the last month, chronic somatic diseases, taking antibiotics and probiotics in the last 6 months, catamnestic observation for less than 12 months. General clinical studies were conducted: questionnaires, health assessment, anthropometry, biochemical examination of blood serum, including lipidogram, ultrasound examination of the abdominal cavity and gallbladder. To assess the intestinal microbiome, the following methods were used: standard bacteriological analysis of feces (method of sowing feces on liquid agarized nutrient media); complex coprological examination with the determination of pancreatic elastase (ELISA method) and fecal carbohydrates (Benedict method); biochemical examination of feces with the determination of short-chain fatty acids (SCFCS) (gas-liquid chromatography method); The Shannon index was adopted as a measure of intestinal dysbiosis. Statistical analysis was performed using the software package Statistica8.0 and MS OfficeExcel 2010/ The results of the study and the conclusion. The biotransformation of the bile acid pool mediated by the gut microbiota regulates the metabolism of bile, glucose and lipids. In children with GI, the number of bacteria representing the indigenous microbiota is generally lower, the intensity of colonization of the intestinal mucosa by them is significantly less, the species diversity of opportunistic and pathogenic bacteria is significantly higher compared with those in practically healthy children. There is an unstable and poor-quality system of interrelation with the macroorganism, disparate metabolic pathways. MK is not able to qualitatively maintain homeostasis within its own consortium. All this creates conditions for disruption of bile acid metabolism and the formation of lithogenic bile. The presence of intestinal dysbiosis in children with GI can cause not only the formation of gallstones, but also negatively affect the further growth and development of children, including the formation of metabolic complications and inflammatory processes.

Co-infection with hepatitis B virus (HBV) and hepatitis C virus (HCV) is a complex clinical disease with an estimated worldwide prevalence of 1-15%. The transmission routes for HCV and HBV are similar. During co-infection, four serological profiles are observed: codominant, HCV dominant, HBV dominant and non-replicative. Although both HBV and HCV replicate in hepatocytes, their life cycles are quite different. Viral replication in co-infected cells is characterized by the dominance of HCV replication over HBV replication. Three theories of interaction between HCV and HBV are discussed. There are no established recommendations for the treatment of HBV/HCV co-infection. Treatment of chronic hepatitis C without HBV suppression increases the risk of HBV reactivation. In the review, we evaluate studies of both direct-acting antivirals and interferon-based therapies. Screening and prevention of co-infection are important to prevent serious HBV reactivation.

Eosinophilic enteritis (EoEn) is a rare disease, the key diagnostic method for which is upper endoscopy with biopsies and histological examination. The article presents criteria of the diagnosis of EoEn, the range of detected endoscopic (including video capsule and balloon-assisted enteroscopy) and morphological lesions; emphasis is placed on the specific endoscopic sign of this pathology. Clinical examples with our own endoscopic examinations in children with EoEn are also presented. The article will improve the awareness of gastroenterologists and endoscopists about EoEn for timely diagnosis of the disease and treatment.

Nonalcoholic fatty liver disease (NAFLD) is a rapidly progressive disease in terms of prevalence. It is most common in male individuals, with an average age of onset around 50 years of age. People suffering from overweight, obesity, type 2 diabetes mellitus are particularly susceptible to the development of NAFLD due to common pathophysiological processes of development. Genetic and epigenetic factors determine the occurrence and progression of NAFLD. Among genes there are those that predominantly affect the development of NAFLD: PNPLA3, TM6SF2, GCKR, MBOAT7, HSD17B13. There are also ongoing studies on the following genes: APOB, PCSK9, APOC3, MTP, SOD2, TNF-a, TGF-b. Among the factors associated with the development of NAFLD, special attention is paid to insulin resistance and obesity, mitochondrial dysfunction, lipotoxicity and release of pro-inflammatory cytokines. The common mechanisms of development of NAFLD, hypertension (HT) and cholelithiasis (CHD) explain their frequent concurrent course. The modern presentation of pathogenesis excludes the possibility of further use of the diagnosis «nonalcoholic fatty liver disease», as it has become clear that liver damage is multifactorial and cannot be defined as a «diagnosis of exclusion». The need to optimise the term NAFLD into «metabolically associated fatty liver disease» is being actively discussed.

Introduction: the relevance of the problem of quality of life (QOL) in Crohn’s disease (CD) is due to the increasing prevalence of inflammatory bowel diseases (IBD), the progressive course of this disease, frequent exacerbations, the presence of complications, which leads to early disability and increases the risk of surgical interventions. Purpose: To analyze publications describing the quality of life of patients with Crohn’s disease. Materials and methods: A search was conducted for publications carried out from 2003 to 2023 on databases using keywords: inflammatory bowel diseases (IBD), quality of life (QOL), Crohn’s disease, SF-36 questionnaire. X articles were found. X papers were selected for the review, where the SF-36 questionnaire was the main tool for studying the quality of life of patients. 13 papers were found and selected for the review, where the SF-36 questionnaire was the main tool for studying the quality of life of patients. Result: Most researchers had convincing confirmation that the quality of life of patients with CD is worse during exacerbation on all studied scales in comparison with healthy people, while during remission it does not differ from the quality of life of people without this disease. Factors that improve and worsen QOL in CD have been identified. Conclusion: in people of different ages with the active course of Crohn’s disease, the quality of life is significantly impaired, but the quality of life of children and adolescents requires additional study.

Tufted enteropathy is a rare autosomal recessive enteropathy with neonatal onset, accompanied by intractable diarrhea and malabsorption. The typical histological appearance is characterized by “bundles” of densely packed epithelial enterocytes. The etiology of this disease is mutations in the gene for the cell adhesion molecule EpCAM. The article presents a clinical case of confirmed tufting entropathy in a child.

There is a rare clinical observation of a 12-year-old girl whose stomach ulcer in the acute stage was combined with chronic reflux esophagitis, hernia of the esophageal orifice of the diaphragm, exacerbation of chronic pyelonephritis. This clinical situation required endoscopic, other instrumental and laboratory examination of a normosthenic child with complex, including anti-helicobacter therapy.

Introduction. Superior mesenteric artery syndrome (SMAS) is a rare cause of chronic duodenal obstruction in children. It is defined as a compression of the inferior horizontal branch of the duodenum (DU) between aorta and the superior mesenteric artery (SMA). Various methods of surgical correction of the disease have been proposed in the literature, but a comparative analysis of their effectiveness has not been carried out. Objective: the comparative analysis of using various options of bypass anastomoses (side-to-side duodenojejunostomy, Roux-en-Y duodenojejunostomy) for SMAS in children was carried out. Materials and methods: thirty-four patients were treated with SMAS at the clinic of the Federal State Budgetary Institution of Children’s City Clinical Hospital named after. N.F. Filatov for the period from 2012 to 2023. Patients were divided into 2 groups: operated on by forming a side-to-side bypass duodenojejunostomy (group 1 - 21 children (61.8%)) and Roux-en-Y (group 2 - 13 children (38.2%). A retro- and prospective analysis of the results of their treatment was carried out. The average age was 15 years 7 months (from 8 years 5 months to 17 years 8 months). Girls were predominant 85.3%. Standard investigations were performed: ultrasound, fluoroscopy, and computer tomography of the organs of the abdominal cavity with contrast, esophagogastroduodenoscopy, laboratory research methods. The WHO AntroPlus program was used to assess the physical condition of the children. Results: the groups were assessed in terms of anthropometric indicators, gender composition and age. The following causes of SMAS were identified in both groups: weight loss caused by neuropsychiatric diseases - 29.4%; growth spurt - 26.5%; weight loss due to other reasons (repeated surgeries, diseases accompanied by weight loss, etc.) - 23.5%; without an obvious reason - 17.6% (6 people), correction of scoliotic deformity - 2.9%. The analysis showed that statistically significant differences were identified in the duration of surgery. The average duration of the operation in group 1 was 78.10±21.53 minutes, in group 2 - 103.46 ±18.19 minutes (p=0.001*). There was no statistically significant difference between groups in the postoperative period and in the complications (bleeding from the surgical site 8.8% (3 people) and reactive pancreatitis 5.9% (2 people)). Conclusion: no statistically significant difference was found in the results of both types of operations. However, the laparoscopic side-to-side duodenojejunostomy bypass is preferable due to the simplicity and quickness of performing.

Lysosomal acid lipase deficiency (LALD) is a rare, chronic, progressive disease based on a defect in the LIPA gene encoding lysosomal acid lipase, early diagnosis of which may be difficult due to the diversity of the clinical picture. The purpose of the study. To evaluate the early clinical and laboratory symptoms of LALD, the timing of manifestation and diagnosis in patients of the Moscow region. Materials and methods. The analysis of the medical documentation of 6 patients with a confirmed diagnosis of lysosomal acid lipase deficiency by the results of enzyme diagnostics and DNA-diagnostics registered in the Moscow region: 5 children aged 2 to 16 years, one patient aged 19 years. Boys - 3, girls - 3. Results. In 3 patients (50%), the first symptoms of the disease were detected before the age of 1 year, in two children (33%) - from 1 to 2 years, in one child - at the age of 5 years. The most common early clinical symptom was cytolysis syndrome and hepatosplenomegaly, less often dyspeptic manifestations (flatulence, diarrhea). The average age of onset of the disease is 1.5 years. The duration of follow-up ranged from 1 year to 14 years. On average, the duration of the diagnostic search was 6.75 years, and the average age of diagnosis was 8.25 years. At the time of diagnosis confirmation, all patients showed signs of hepatosplenomegaly, diffuse changes in liver parenchyma, increased serum transaminases, hypercholesterolemia, increased LDL and decreased HDL. Excess of ALT values up to 2 norms was diagnosed in one child (17%), from 2 to 3 norms - in 3 children (50%), from 3 to 5 norms - in 2 children (33%). AST is less than 2 norms - in 2 children (33%), from 2 to 3 norms - in 3 (50%), in 1 child - 5-6 norms (17%). The absolute majority of patients (83%) had c894G>A mutations in the LIPA gene in a homozygous state. Conclusion. LALD is a rare disease, the diagnosis of which is difficult due to the frequent asymptomatic course or non-specific clinic. In most children, the disease manifests at an early age (up to 3-5 years), and the most common symptoms are increased liver transaminases and hepatosplenomegaly. ALT and AST activity, as a rule, does not exceed 2-3 norms. The signs characteristic of DL are detected randomly during examination for other diseases. Due to the non-specificity of clinical symptoms, the duration of diagnosis varies from several months to several years. The main modern method of diagnosing LALD is enzyme diagnostics and DNA diagnostics. If a child has hepatolienal syndrome, a persistent increase in markers of cytolysis and dyslipidemia, caution should be exercised and the necessary diagnostic examinations should be carried out in a timely manner to exclude LALD.

Russian data on the prevalence of inflammatory bowel diseases (IBD), including ulcerative colitis (UC), confirm the general global trend towards an increase in IBD, taking into account age-related as well as regional characteristics, which determined the purpose of this study. The purpose of the study. To evaluate the clinical and epidemiological features of the course of ulcerative colitis in children of Rostov-on-Don. Materials and methods. We observed 42 children aged from 1 to 14 years with a diagnosis of UC, which was made on the basis of anamnesis, clinical picture, laboratory test results, colonoscopy data, and morphological examination of the colon mucosa. UC activity was assessed taking into account the PUCAI index. Results. For the period from 2014 to 2023 On the basis of the pediatric somatic department of city hospital No. 20 in Rostov-on-Don, UC was diagnosed in 42 children aged 1 to 14 years, which amounted to 1.48% of the total number of patients with chronic intestinal diseases (2822 people). There was an increase in the incidence of ulcerative colitis from 2014 to 2023 (from 0.32% to 2.52%) with maximum values in 2021-2023. Conclusion. Clinical and epidemiological studies have shown an increase in the incidence of UC in children of Rostov-on-Don over the past 10 years. It has been established that ulcerative colitis is more often detected in the preschool group of children. The incidence of ulcerative colitis was higher in boys than in girls. A high degree of family history of children with UC was revealed for diseases of the digestive system, delivery by Caesarean section, artificial feeding in the first year of life, and acute intestinal infections. In the UC clinic, milder, erased forms of the disease dominated, which determined the later diagnosis of the disease at the prehospital stage.

The development of menstrual cycle disorders (MCD) in adolescent girls is often combined with obesity, therefore, it seems relevant to study the effect of pathological body weight gain on pubertal development. The purpose of the study. To study the association of obesity and menstrual disorders in adolescent girls. Materials and methods. Group 1 (40 people): obese and MCD, group 2 (40 people): with obesity without MCD. Laboratory tests: assessment of carbohydrate and lipid metabolism, calculation of the HOMA index; blood plasma levels of kisspeptin, thyroid-stimulating hormone (TSH), free thyroxine, total testosterone, prolactin, free androgen index (ISA), anti-muller hormone (AMH), 17-0H Progesterone(17-OHP), lutenizing hormone (LH), follicle stimulating hormone (FSH), estradiol (Е2). The obtained data were analyzed by constructing a mathematical model of the pathogenetic mechanisms associated with MCD in obese adolescent girls. Results. There were no differences in the degree of obesity in the groups: SDS BMI (Me1=2.9; Me2=2.94, p=0.459). In group 1, significantly more often: impaired glucose tolerance (1 g.=15%; 2 g.=2.5%, p=0.048) (NTU), hypertriglyceridemia (1 g.=37.5%; 2 g.=15%, p=0.048). Significantly higher in the group with MCD: levels of LH (Me1=8.85 mIU/ml; Me2=6.70 mIU/ml, p=0.022), kisspeptin (Me1=55.4 pg/ml; Me2=38.3 pg/ml, p=0.001), total testosterone (Me1=1.90 nmol/l; Me2=1.25 nmol/l, p=0.026), ISA (Me1=14.5; Me2=8.65, p=0.027), AMG (Me1=6.61 ng/ml; Me2=24.26 ng /ml, p=0.014), with a significantly lower level of Е2 (Me1=33.5 pg/ml; Me2=5.0 pg/ml, p=0.012). Conclusions. 1. Adolescent girls with obesity and MCD are significantly more likely to have NTU and hypertriglyceridemia compared with girls with similar severity of obesity without MCD; 2. When obesity and MCD are combined, significantly higher levels of kisspeptin, LH, AMH, total testosterone, ISA are noted; 3. Among the pathogenetic mechanisms associated with MCD, hormonal and matabolic independent associations have been established, the effect of which is independent; hormonal: kisspeptin - LH - testosterone, and metabolic: BMI - insulin and BMI - leptin.