The SARS-CoV-2 pandemic has had an impact on the healthcare system and people’s health. The consequences of this influence require study and analysis to further predict population health and healthcare development. Different age groups have significant differences in. features of the disease, epidemiology and consequences. Newborns and infants make up only a small part of the pediatric population affected by COVID-19. Data on the epidemiological and clinical features of COVID-19 in infants are limited. Assessing the impact of the pandemic on this age group through the analysis of morbidity, mortality, hospitalizations, and dispensary observation is of interest to public health. The pandemic has had an impact on public health and public health. The consequences of this influence require comprehensive analysis. The analysis of the main indicators showed that the peak of the pandemic infant children in the Moscow Region occurred in 2021, when the highest incidence and referrals for COVID-19 were registered. The highest level of hospitalization was in 2022. In the period 2020-2021 there was a decrease in morbidity and hospitalizations, which differs from trends in older children and adults. The pandemic had no impact on the coverage of medical examinations of infants, as well as on the mortality rate and the structure of the main causes of death.

Relevance. In the context of the pandemic, schoolchildren were transferred to a distance learning format. Forced isolation, prolonged stay at the computer, physical inactivity, high mental stress had an impact on their health. Of practical interest is the analysis of the frequency of chronic diseases during a pandemic in a cohort of adolescents. Purpose: to estimate the incidence of chronic diseases among adolescents during the COVID-19 pandemic. Materials and methods: a prospective, cohort, non-randomized study of adolescents (15-17 years old), (n=221): 116 girls, 105 boys were examined in accordance with the order of the Ministry of Health of the Russian Federation of August 10, 2017 N 514n “On the Procedure for Conducting Preventive Medical Examinations minors”, a comparison was made between the results of the survey in 2019 and 2021. Results. The frequency of mild protein-energy malnutrition increased from 15.1% (2019) to 19.6% (2021), p=0.02. The number of overweight children decreased in the general group from 14.1% to 10.1%, p=0.04, and in the group of boys from 17.2% to 10.6%, p=0.04. Obesity of the I-II degree in the observation groups did not have significant changes in the number of diagnosed cases, however, in the group of boys in 2021, obesity of the III degree was detected. According to the results of observation against the backdrop of a pandemic in adolescents, the frequency of chronic diseases has significantly increased: pathology of the organ of vision - by 1.4 times, pathology of the musculoskeletal system - by 2.8 times, pathology of the nervous system - by 7 times, gynecological diseases - by 1, 7 times. Conclusion. The overall frequency of detected pathology increased by 1.6 times, due to diseases of the eyes, blood system, musculoskeletal system, endocrine, nervous and reproductive systems. It is likely that physical inactivity and a high level of stress, causing a long-term hormonal imbalance, played a negative role during the period of covid restrictions. At present, thanks to the opening of rehabilitation departments providing specialized medical care within the framework of the compulsory medical insurance system, this category of patients throughout the Russian Federation will have the opportunity for personalized correction of the identified pathology.

Relevance. The actuality of the problem of osteoporosis in children with cystic fibrosis (CF) is due to the high risk of a decrease in bone mineral density (BMD) in this category of patients. According to the Register of Patients with cystic fibrosis in the Russian Federation for 2021, this complication occurs in 6.4% of patients (1.8% of children and 19.2% of adults). Factors such as chronic inflammation, malabsorption and maldigestion syndromes, hormonal, anti-inflammatory drugs, metabolic disorders negatively affect the processes of regulation of bone metabolism, which leads to a decrease in BMD, osteoporosis and fractures in this nosology. Studying the dynamics of the frequency of decrease in BMD in children with CF with new diagnostic and therapeutic approaches will allow us to evaluate the effectiveness of measures used to detect osteoporosis and propose new algorithms for prevention and treatment. Objective: to assess the dynamics over the follow-up period 2006-2021 of the frequency of decrease in BMD in children with CF. Materials and methods: In 2006, 128 patients with cystic fibrosis - 60 boys and 68 girls aged 5-18 years - were examined on the basis of the FSAEI HE N. I. Pirogov RNRMU MOH. In 2020-2021, 40 children with cystic fibrosis (28 girls, 12 boys aged 13.6±2.4 years) and 35 healthy children (24 girls, 11 boys aged 14.2±2.2 years) were examined on the basis of the RCIC. The condition of the patients’ bone tissue was assessed by conducting dual-energy X-ray absorptiometry (DHA) in the lumbar spine (L2-L4) and bone mineral content (BMC). Dietary calcium intake and respiratory function were evaluated in all patients with CF. Results. In 2006, a decrease in BMD <-2 Z-score was found in 35 (27%), osteopenia (Z-score BMD <-1) - in 33 (26%) patients with CF. In 2021, a decrease in BMD <-2 Z-score was detected in one child (2.5%) with CF, osteopenia - in 10 (25%) children. In all healthy children, BMD indicators were within the normal range. The average BMD in patients with CF in 2021 was lower - 0.26±1.3 g/cm2 compared to healthy 0.74± 0.7g/cm2 (p=0.000). BMC values in patients with CF were also lower - 39.6±13.0g versus 50.4±14.8g (p=0.000) in healthy patients. Dietary calcium intake in 2021 was 1830.5 ±782.2 mg/day, which is 3 times higher than in patients in 2006-543± 44 mg/day (p=0.000). Lung function in patients in 2021 was higher, FEV1 83.1%±17.8, compared with 67.9%±23.1 in patients in 2006 (p<0.05). Conclusion: new methods of diagnosis and therapy have significantly reduced the frequency of decrease in BMD in children with cystic fibrosis. However, these indicators still do not reach the values of healthy children.

Relevance: over the past decades, the prevalence of arterial hypertension (AH) in the pediatric population has increased significantly, but there are still many open questions related to the diagnosis and course of the disease, the validity of the choice of antihypertensive therapy and the risks of target organ injury. In clinical practice, patients with hypertension are observed by a team of specialists of various profiles, and a unified approach to managing the disease is not always formed between them. Underestimation of risk factors, late detection of target organ injury and untimely start of antihypertensive therapy significantly increase the risks of an unfavorable, progressive course of the disease, aggravating the further prognosis. Strict adherence to the methods of diagnosing the disease and its potential consequences recommended by the professional community of pediatric cardiologists ensures an adequate initiation of drug therapy, which allows not only to control the course of hypertension, but also to prevent the development of long-term complications. Objective: to analyze the indicators obtained using the formula recommended by pediatric cardiologists compared to the routine method for detecting left ventricular myocardial remodeling in children with AH. Materials and methods: a cross-sectional, cohort, non-randomized study, which included 92 patients with newly diagnosed primary arterial hypertension, who were not receiving antihypertensive therapy at the time of the examination. The standard linear dimensions of the walls and cavities of the heart were assessed during echocardiography. The results were evaluated by the standard Fisher’s test, the xi2 test in the Statistica 9 software. The sample excluded children-athletes, patients with secondary hypertension, overweight, congenital heart disease and cardiomyopathy. All children were tested the same according to the current Federal Clinical Guidelines “Diagnosis and treatment of arterial hypertension in children and adolescents”. Results: the usage of the recommended formula is not only significantly more often allowed to identify the early stages of LV myocardial hypertrophy, but has great sensitivity. The routine method for calculating LV remodeling showed the norm much more often even in case of severe violation of the geometry of the heart. Conclusion: untimely detection of LV myocardial hypertrophy leads to late initiation of antihypertensive therapy, underestimation of risk factors, which increases the risk of an unfavorable course of the disease and the occurrence of long-term cardiovascular complications at a young age.

Lumacaftor/ivacaftor is a combination of two low-molecular-weight drugs aimed at eliminating the main defect of cystic fibrosis (MV) at the cellular level. Restoration of the function of the chlorine (CFTR) channel in MV is necessary for normalization of mucociliary clearance, nutritional status of patients, improvement of other clinical and laboratory parameters. This CFTR modulator is approved for the treatment of homozygotes according to the F508del variant, the most common among patients with MV. Objective: to study the effectiveness of lumacaftor/ivacaftor CFTR modulator therapy in children with cystic fibrosis after 12 months of treatment and follow-up. Materials and methods. The data of 50 patients from among 135 children over 6 years of age who received lumacaftor/ivacaftor, presented in the “Register of patients with cystic fibrosis of the Russian Federation” for 2021-2022, were analyzed. The indicators of external respiration function (FVD) - FEV1, FVC, sweat conductivity, anthropometric data at the start of targeted therapy and after 12 months of treatment were analyzed. Results. During 12 months of treatment, there was an increase in body weight from Iu (Q1-Q3) 36.2 (27.5-46.1) to 40.5 (30.8-50.0) kg, p<0.001, height - from 148.8 (134.8-159.3) to 155.0 (137.9-162.5) cm, p<0.001. Body mass index (BMI) (kg / m2) at the start of therapy was 16.4 (14.7-17.8), and a year later - 17.4 (15.9-19.1), p<0.001. The conductivity of sweat before the start of therapy was equivalent to 113.0 (104.0-122.0) mmol / l NaCl, and after 12 months of therapy with lumacaftor/ ivacaftor - 90.0 (75.5-103.0) mmol \\ l NaCl, p<0.001. There were no statistically significant changes in the indicators of external respiration function according to spirometry data. Conclusion: after 12 months of lumacaftor/ivacaftor therapy, statistically significant positive dynamics of weight, height, BMI and sweat test were observed in children with MV older than 6 years compared with the indicators before the start of targeted therapy.

Relevance. In the pathogenesis of chronic gastroduodenitis, along with an infectious factor (Helicobacter Pylori infection), an important role is played by the state of the patient’s psycho-emotional status, which is characterized by a high incidence of anxiety and subdepressive states in adolescence. Goals: to assess the state of the psycho-emotional status and quality of life in adolescent children with chronic gastroduodenitis associated with Helicobacter pylori infection in the period of exacerbation, after 1 month and 6 months after successful eradication therapy. Materials and methods. The prospective case-control study included 60 adolescent children with morphologically proven chronic gastroduodenitis associated with Helicobacter pylori infection (main group) in the period of exacerbation, in 1 month. and 6 months. after successful eradication therapy. As a comparison group, 22 schoolchildren with the first health group were taken, comparable in age and gender with the children of the main group. All children underwent psychological testing (Spielberger test to assess the levels of reactive and personal anxiety, Zung test to determine the level of depression) and assessed the quality of life. Results. During the period of remission, more than half of the children with chronic gastroduodenitis had complaints common for asthenic syndrome: weakness, mental exhaustion, and headaches. In the period of exacerbation, the highest rates were noted on the scales of personal and reactive anxiety, depression, followed by improvement during treatment and worsening of indicators after 6 months after eradication therapy. Quality of life indicators, characterized by improvement after eradication therapy, after 6 months. showed a statistically significant decrease on the scales of physical functioning (RP), general health (GH), vitality (VT) and mental health (MH). Conclusion: Adolescent children with chronic gastroduodenitis characterized by changes in the psycho-emotional status in the form of subdepression and increased anxiety, both reactive and personal. These changes are not completely stopped after the use of traditional therapy for chronic gastroduodenitis and persist in the period of remission, worsening the quality of life, increasing the negative perception of the disease and treatment prospects.

According to the World Health Organization, hereditary eye pathologies (HEP) constitute a significant proportion of ophthalmologic diseases (at least 35% in total and up to 40%in children), resulting in substantial disability (65-70%). However, there is a lack of data on the prevalence and diversity of HEP in the Russian Federation. Therefore, it is crucial to study the prevalence and etiological nature of these diseases using modern genome technologies, in order to identify frequent forms, enable early detection in children, and develop effective therapeutic and preventive measures. Objective: The objective of this study was to estimate the prevalence of HEP in children, both as isolated conditions and as part of hereditary diseases and syndromes, in seven regions of the Russian Federation, while identifying frequently occurring nosological forms. Materials and methods: An epidemiological and clinical genetic study was conducted in 60 districts across the regions of Rostov, Kirov, Republics of Chuvashia, Udmurtia, Bashkortostan, Tatarstan, and Karachay-Cherkessia, encompassing a total population of 2,434,460 individuals, including 480,575 children. The study encompassed the entire population of the selected areas, regardless of age, and followed an original protocol for genetic and epidemiological research established at the Laboratory of Genetic Epidemiology. The methods employed included clinical-genetic, genealogical, clinical-laboratory, and molecular-genetic techniques, such as full-exome sequencing. The prevalence of visual organ diseases was calculated. Results: The results revealed a total of 449 patients with 56 different forms of isolated hereditary eye pathology (IHEP), indicating a prevalence of 1:1070 children. Additionally, 507 pediatric patients were identified with eye involvement as a symptom of 50 hereditary diseases and syndromes (SHEP), resulting in a prevalence of 1:954 children. Overall, hereditary eye lesions affecting various eye structures were identified in 956 pediatric patients, yielding a prevalence of 1:504 children. Frequent nosological forms were identified for both disease groups: 17 in IHEP and 14 in SHEP. Notably, these frequent hereditary eye diseases accounted for more than 80% of all identified patients with hereditary pathology (83.30% and 88.10% for IHEP and SHEP, respectively). Conclusion: This study provides new insights into the epidemiology of hereditary eye pathologies in the Russian Federation and describes frequent diseases within this population. These findings will contribute to improving research and clinical practices, expanding the range of treatable conditions, and informing targeted programs and measures in the field of children’s healthcare.

Relevance All over the world, neonatal screening protocols are being improved in order to reduce the time of diagnosis, simplify the examination procedure, and reduce the number of false positive and false negative results of neonatal screening. In most European countries, the best neonatal screening algorithm is molecular genetic testing. Objective: Evaluate the effectiveness of the new cystic fibrosis screening protocol algorithm, which, in the first step, determines the immunoreactive trypsin (IRT) level from one dry spot and performs DNA diagnostics (36 most frequent mutations) in patients with increased IRT. Compare the economic costs of screening by two algorithms (existing and alternative). Materials and methods: two parallel algorithms were used for neonatal screening. Which was performed on 56,534 infants in the Moscow Region from March to November 2022. The current three-stage algorithm was used, which involves re-blood sampling from newborns at risk 3-4 weeks after the first blood sampling and a sweat test. In the new algorithm, newborns with an elevated IRT 1 level at the 1st week of life underwent a molecular genetic study (search for frequent mutations in the CFTR-36 variants gene, sequencing of individual locus of the CFTR gene for control purposes) in the same dry blood spot used for screening. Results: out of 56,534 test forms received, 607 (1.07%) newborns with a positive test for IRT were identified for neonatal screening in a laboratory from the Moscow region, of which 501 (82.5%) samples were selected, where the level of RTI1 exceeded the cut-off level (65 ng / ml), which were sent for molecular genetic research in order to search for pathogenic variants in the CFTR gene. 106 (17.5%) newborns did not complete the examination. Positive results of confirmatory diagnosis were obtained in 6 infants, which accounted for 0.01% of the number of children who underwent screening and 1.2% of the number of children with neonatal hypertrypsinogenemia. Conclusion: the positive effects of the new algorithm are to reduce psychological tension in families during examination by reducing the time of diagnosis, no need for repeated blood sampling on the 21st-28th day of life, reduction of the time of diagnosis, prevention of nutritional deficiencies in children during the first months of life and life-threatening complications. Reducing the number of children with incomplete testing for cystic fibrosis, economic benefit. The negative effects of the new algorithm are that it is possible to miss a patient with cystic fibrosis who does not have any of the common pathogenic variants in the CFTR gene.

Anorexia nervosa is a syndrome associated with a deliberate decrease in body weight caused and / or maintained by the patient himself through a sharp restriction of the amount of food taken up to complete rejection of it, an obsessive fear of weight gain. The article describes a clinical case of a 15-year-old girl with anorexia nervosa and the development of severe protein-calorie deficiency, refiding syndrome and spontaneous pneumomediastinum, which required intensive therapy. The clinical features of the course of the disease and observation of the patient in dynamics are presented. Following modern clinical guidelines helped to identify complications in a timely manner, streamline diagnostic tactics, establish a diagnosis and determine the necessary therapy. The alertness of specialists regarding the appearance of complications, against the background of this eating disorder, will allow timely establishing the correct diagnosis, determining approaches to choosing a method of nutrition, tactics for expanding the diet, as well as drug correction of existing conditions.

Relevance: primary ciliary dyskinesia (PCD) is a rare hereditary autosomal recessive disease from the group of ciliopathies, which is based on a defect in the ultrastructure of the cilia of the epithelium of the respiratory tract and similar structures, leading to a violation of their motor function. It is characterized by the defeat of all parts of the respiratory tract with the formation of a chronic inflammatory process and bronchiectasis. About half of patients with PCD have a complete or incomplete reverse arrangement of internal organs with various variants of heterotaxy (situs inversus). Primary ciliary dyskinesia should be differentiated from cystic fibrosis, primary immunodeficiency conditions, congenital anomalies of the structure of the bronchial tree, bronchiectasis of other origin, bronchial asthma, congenital anomalies of the cardiovascular system. Objective: describe the clinical case of a PCD patient with the first-described pathogenic variant of the nucleotide sequence (chr5:13700862CCATAGA>C) of the DNAH5 gene to familiarize doctors with the clinical features of the disease and modern diagnostic capabilities. Materials and methods: the data from the patient’s medical history, transmission electron microscopy to detect anomalies in the structure of cilia in the biopsy of the nasal mucosa and the results of molecular genetic diagnostics were used. Results. The patient was admitted for 8 months for examination and treatment in June 2022. A child from the 1st pregnancy, the first birth at 43 weeks. From anamnesis: suffered intrauterine pneumonia, otitis media without hearing loss, obstructive bronchitis, episodes of apnea. Neonatal screening for cystic fibrosis is negative. According to the PICADOR scale, 12 points were obtained. On high-speed video microscopy of cilia, there is a violation of the movements of the cilia. On computed tomography of the chest organs, the reverse location of the internal organs was noted, there were no pathological changes in the lungs. The total absence of external and internal dynein handles on transmission electron microscopy was revealed. Exome sequencing revealed the previously described variant of the nucleotide sequence in exon 68 of the DNAH5 gene (chr5:13735348G> A) in a heterozygous state. Also, a previously undescribed variant of the nucleotide sequence (chr5:13700862CCATAGA> C) in a heterozygous state was detected in exon 78 of the DNAH5 gene. Conclusion: modern possibilities of PCD diagnostics are demonstrated by the example of clinical observation. It is noted that patients with suspected PCD need a comprehensive examination. A pathogenic variant of the nucleotide sequence (chr5:13700862CCATAGA>C) of the DNAH5 gene in a heterozygous state has been described for the first time, leading to the deletion of two amino acids without shifting the reading frame (c.13604_13609del p. (Val4535_Tyr4536del); NM_001369.3), which will help for the diagnosis of PCD in the future.

Introduction. Cytolysis syndrome is a nonspecific reaction of hepatocytes to the action of damaging factors, which is based on a violation of the permeability of the membranes of liver cells and their organelles, which leads to the release of intracellular enzymes into the blood plasma. At the same time, damaging factors can be both infectious and non-infectious, which requires a differentiated approach when verifying the clinical diagnosis. Description of the case. The article considers a clinical case of a long-term observed cytolysis syndrome in a 4-year-old child, as well as a complex and lengthy step-by-step way of differential diagnosis of this condition, which eventually allowed to establish the correct diagnosis and determine the tactics of management of this patient. To do this, the patient not only underwent blood tests for markers of hepatitis C virus, aminotransferase and creatine phosphokinase, but also genetic studies in dynamics. Conclusion. The authors draw attention to the fact that not every increase in the activity of aminotransferases is a manifestation of viral hepatitis. anamnesis should be carefully collected and an in-depth laboratory examination should be carried out to verify the cause of the developed cytolysis syndrome.

Plastic bronchitis (PB) is a rare acute respiratory disease characterized by the formation of fibrin-rich plugs leading to airway obstruction and respiratory failure. This is due to the organization of the exudate, or transudate, which takes the form of the airways. Mortality in BE reaches 28-60% in patients with congenital heart disease (CHD) and 6-7% among other causes. Exact epidemiological data are unknown. In most patients, BE occurs in the context of underlying diseases, which can be conditionally divided into two groups: diseases of the heart and blood vessels and a secondary complication of pulmonary diseases. Clinical manifestations of PB are manifested by episodes of dyspnea, tachycardia, hypoxia, fever, and cough associated with airway obstruction. All existing treatments are symptomatic. The article presents a clinical case of the development and course of PB in a girl aged 1 year and 10 months against the background of acute community-acquired right-sided segmental (S10) pneumonia.

Gastric perforation is a rare but highly lethal surgical problem in neonates, especially in preterm and low birth weight infants. The mechanisms of occurrence are still not fully understood. We present a case of successful surgical treatment of a two-day-old premature girl with a burdened history, born and operated on in a perinatal center. A child with a preliminary diagnosis of perforation of a hollow organ, established according to X-ray data, underwent preliminary peritoneal drainage at the first stages. The final diagnosis of gastric perforation was established intraoperatively. After the detection of extensive necrosis of the anterior wall of the stomach with perforation at the border with the pyloric region and a rupture along the greater curvature, suturing of the pinpoint perforation and rupture with plastic surgery of the anterior wall of the stomach with local tissues, gastro- and gastroenterostomy, and drainage of the abdominal cavity was performed. Given the concomitant prematurity, at the age of 1 month 19 days of life, the child was able to return home clinically healthy.

The article examines the effectiveness of the use of ozone therapy in the complex treatment of children with appendicular peritonitis at the stage of the early postoperative period in relation to the correction of laboratory indicators of endotoxin aggression and relief of the main clinical symptoms. 60 children operated on for widespread appendicular peritonitis were examined. The main group consisted of 30 children who received a course of ozone therapy in addition to standard complex therapy at the stage of the early postoperative period. Only standard therapy was performed in patients of the comparison group. The control group consisted of 30 healthy children of the same age. Among the patients of the control group, in most cases, its physiological level was established - in 93.3%. The average value of lipopolysaccharides in the group was 0.6±0.1 EU/ml. In turn, among the patients of the main group and the comparison group, all children (100%) showed the development of endotoxin aggression. So, in the main group, the initial average value of lipolysaccharides was 2.6 ± 0.2 EU/ml, and in the comparison group - 2.50.2 EU/ml. 2 weeks after the surgical intervention in patients of the main group, the increased level of lipolysaccharides remained only in 20.0% of children. At the same time, the average value of the indicator was 0.8±0.1 EU/ml. Among the patients of the comparison group, on the 14th day of the postoperative period, 50.0% of children retained an elevated level of lipopolysaccharides, and the average value of the indicator was 1.50.1 EU/ml. It is proved that the use of ozone therapy according to the proposed method at the stage of the early postoperative period in the complex treatment of children with widespread appendicular peritonitis makes it possible to reduce laboratory indicators of endotoxin aggression in a shorter time and accelerate the regression of clinical symptoms.