Medical consortia help solve current healthcare problems. Four scientific medical institutions (GBUZ of the Moscow region “Research Institute of Childhood of the Ministry of Health of the Moscow Region”, Scientific Research Clinical Institute of Pediatrics and Pediatric Surgery named after Academician Yu. E. Veltishchev Federal State Autonomous Educational Institution of Higher Education “Russian National Research Medical University named after N. I. Pirogov” of the Ministry of Health Russia, the Federal State Budgetary Institution “Medical Genetic Research Center named after Academician N. P. Bochkov”, the Federal Budgetary Institution “Moscow Research Institute of Epidemiology and Microbiology named after G. N. Gabrichevsky” of Rospotrebnadzor) and one higher educational institution (the Federal State Budgetary Educational Institution of Higher Education “Ural State Medical University” of the Ministry of Health of the Russian Federation) united into the 5P “Children’s Medicine” consortium to solve pressing problems of children’s healthcare in accordance with the basic principles of personalized medicine. Organizing large congresses with international participation dedicated to the problems of children’s healthcare is an opportunity for doctors in the Russian Federation and other countries to share knowledge and best practices on saving a child’s life and treating diseases from an early age of the patient through direct communication. A systematic approach can be considered the most effective for solving problems in all areas, including children’s healthcare, and the 5 P “Children’s Medicine” congress helps doctors go beyond the boundaries of the familiar and familiar, learn new things, and get ideas for further professional growth.

Patients who have experienced acute critical condition and realized the “syndrome of the consequences of intensive care” become “chronic critical patients” and need long-term maintenance of vital functions of the body for many months and even years. The progressive development of resuscitation care with the improvement of respiratory and nutritional support, the introduction of new drugs and the development of modern algorithms for the treatment of critical conditions in children led to an improvement in survival rates among patients in intensive care units. At the same time, not all surviving patients end the trajectory of the disease by recovery and some children remain dependent on one or another type of protection of the function of organs and systems. There are conditions that require long-term maintenance of the body in a hospital: in the intensive care unit, in the PIT or in the palliative care unit. Prolonged invasive effects, aggressive nosocomial microbiota, immunodeficiency conditions lead to permanent contamination and the formation of infection loci. Periodically relapses, reactivations of bacterial inflammation are of a specific nature inherent in a chronic critical patient. Therapy of these exacerbations is complex and should be carried out taking into account the peculiarities of this category of patients. For the prevention of chronic critical condition, microbiological monitoring should be carried out taking into account the sensitivity to antibiotics in order to timely antibacterial therapy, and in some cases, antibiotic prophylaxis. The authors of the present review consider in detail the problem of microbial colonization in a chronic critical child on the example of various pathological conditions occurring with the formation of chronic lung disease. These issues should be considered by doctors of different levels of medical care in routine practice.

Intranatal asphyxia and hypoxic-ischemic encephalopathy of newborns are caused by risk factors from both the mother and the fetus, which makes the pathophysiology of this condition extremely difficult. Data from the federal statistical observation form No. 32 for the Moscow region show minor changes in the number of chronic diseases, a burdened obstetric and gynecological history, as well as pathology during pregnancy and childbirth in pregnant women over 3 years Perinatal risk factors were significantly more common in newborns with severe intranatal asphyxia and HIE compared with a moderate degree who underwent a therapeutic hypothremia procedure. Complications during the birth process, surgical methods of rapid fetal extraction (vacuum extractor) were the causal factors of asphyxia. To a minor extent, the asphyxia of the newborn is affected by the untimely discharge of amniotic fluid.

Pneumonia is the most frequent infectious intercurrent pathology in children with Congenital heart disease. It is the reason for forced postponement of life-saving cardiac surgery. Our fifteen years’ experience of children with congenital heart disease and pneumonia during the preoperative period, allows not only to predict the course of pneumonia in infants with CHD but also to provide an optimal algorithm for diagnosis and therapy to reduce the time of convalescences and preoperative preparation.

The study of perinatal risk factors and the clinical and somatometric condition of infants with primary transient lactose intolerance, as well as their vitamin D supply, was carried out. The 48 children of the first six months of life were examined. Risk factors were identified in the mothers of the examined infants, which, in our opinion, were the basis for the formation of morphofunctional immaturity of the gastrointestinal tract in children (the mother’s age is more than 30 years old, iron deficiency anemia, the threat of termination of pregnancy, operative delivery, etc.). When assessing the condition of infants, somatometric status disorders were diagnosed in 54.2% of cases, of which malnutrition was detected in 76.9% of cases, and abnormal weight gain in 23.1% of cases. We have established the important fact that morphofunctional immaturity of the gastrointestinal tract and inadequate drug enteral support led in 61.5% of cases to insufficient vitamin D supply, determining metabolic disorders. We have refined a two-stage algorithm for nutritional support for patients with nutritional status disorders, including the mandatory use of micellar solutions of cholecalciferol.

Introduction. Cough is the most common manifestation of respiratory infections affecting the upper and lower airways, indicating impaired mucociliary clearance. Mucolytic agents are often used to normalize the patient's condition and improve mucus clearance. To normalize the patient's condition and improve mucus clearance, mucolytic agents are often used. Considering the mucolytic action of hypertonic solutions, we conducted a comparative clinical study to evaluate the efficacy and safety of a combination of 3% hypertonic saline solution and high molecular weight hyaluronic acid 0.01% (Ingasalin® 3%) in the treatment of acute bronchitis during acute respiratory infections. Objective: To evaluate the efficacy and safety of a combination of 3% hypertonic saline solution and high molecular weight hyaluronic acid 0.01% (Ingasalin® 3%) in the treatment of acute bronchitis during acute respiratory infections in children aged 3 to 7 years. Materials and Methods: The study involved 120 patients aged 3 to 7 years with acute bronchitis during acute respiratory infections (ARI). All patients were randomly assigned to two groups using simple randomization: Group 1 consisted of 60 patients who received a combination of 3% hypertonic sterile saline solution and 0.01% hyaluronic acid (Ingasalin® ) (1 ampule of 5 ml solution administered twice a day for 5 days) via nebulizer. Group 2 consisted of 60 patients who received Ambroxol solution for inhalation at a dose appropriate for the patient's age via nebulizer. Objective signs of the disease (cough frequency, productivity (dry/wet) cough, auscultatory lung findings (presence of rales, character of rales)) were assessed dynamically on days 1, 3, 5, and 7 of treatment using a scoring system for symptoms and noting adverse events (if they occurred). Results. By the 3rd day of treatment, the majority of children (85%) in the Ingasalin® group showed a more pronounced regression in both daytime and nighttime cough. In the Ingasalin® group, daytime cough decreased from 3.9±0.5 to 1.8±0.03 points and nighttime cough decreased from 2.8±0.4 to 0.9±0.04 points compared to the comparison group (Ambroxol): reduction of daytime cough from 4.1±0.4 to 2.4±0.02 points and nighttime cough from 2.67±0.2 to 1.6±0.05 points (p<0.05). By the 5th day of treatment, a significant reduction in the severity of daytime and nighttime cough by less than 1 point was noted in children in both groups, with no statistically significant differences between the groups. According to patient diaries, by the 7th day of treatment, cough was absent in 74% of children. Clinical assessment of treatment showed that by the 7th day of observation, recovery was observed in 85% of children in the Ingasalin® group, while in the comparison group, it was observed in 75%. Complete absence of cough was considered the criterion for recovery. Adverse events during treatment in both groups were comparable. Conclusions: The conducted study demonstrated that a 3% hypertonic solution in combination with high molecular weight hyaluronic acid (Ingasalin® 3%) is an effective solution in the treatment of acute bronchitis accompanied by cough in children with respiratory tract infections (RTIs), and even surpasses the synthetic mucoregulatory drug (ambroxol) in terms of effectiveness and onset of action speed.

Relevance. Against the background of high epidemic significance of viral diarrhoeas in children in recent decades, with the decreasing incidence of shigellosis, salmonellosis, escherichiosis, the importance of intestinal infections of opportunistic etiology associated with Klebsiella pneumoniae remains. Objective: to study the epidemiological features of acute intestinal infection (AII) associated with K. pneumoniae in infants and young children of St. Petersburg. Materials and Methods. We analyzed the monthly incidence of intestinal monoinfection associated with K. pneumoniae (n=69, group 1) and combined intestinal infection associated with K. pneumoniae and rotavirus (n=19, group 2) in 88 children aged 1 month to 3 years hospitalized in the Intestinal Infections Unit between 2019 and 2021. Verification of the etiology of AII was based on the data of faecal bacteriological and PCR studies with AmpliSens® AII Screen-FL reagents, as well as on the data of serological and immunological methods. Each group had subgroups by age: up to 1 year old and from 1 to 3 years old. The frequency of diagnosis of acute respiratory infections (ARI) in children of both groups was also determined. The studied indicators were analyzed using relative values of frequency and distribution. Student’s t-test and Pearson’s χ2 were used in their comparison. The results with a significance level of p<0.05 were considered reliable. Results. The distribution of girls and boys in groups 1 and 2 was not significantly different (1.2 and 0.9). In group 1, there were more children under 1 year old (78.3%) than from 1 to 3 years old (21.7%; p<0.001), in contrast in group 2, there were more children from 1 to 3 years old (57.9%) than from 1 to 1 year old (42.1%; p>0.05). Group 1 children were identified monthly, more often in November and February. Iidentification of group 2 children was observed in early autumn, winter and early spring. ARI in children of group 1 was diagnosed more often in January, February, August, and November. Conclusion. The results of the study are preliminary, show differences in epidemiological features of intestinal monoinfection associated with K. pneumoniae and combined intestinal infection associated with K. pneumoniae and rotavirus in infants and young children.

The authors present a review of the literature on the peculiarities of immunity in children, which may explain the differences in the symptoms of COVID-19 in childhood. In children, COVID-19 tends to occur more easily than in adults. However, as in the years of the pandemic, and in the post-pandemic period, there were quite a few cases of complicated course with the need for hospitalization, and sometimes with fatal outcomes. Infants under the age of 1 year account for the highest percentage of hospitalizations among children. Currently, the analysis of the results of comparing the clinical manifestations of the disease and laboratory data is continuing. Basically, the features of COVID-19 in children are explained by the immaturity of the immune system and the atrial fibrillation of the respiratory tract. It is known that in childhood there are fewer angiotensin converting enzyme type 2 receptors (ACE 2, ACE 2), with which the coronavirus enters the human body. The disease caused by SARS-CoV-2 in children is often accompanied by gastrointestinal manifestations. A small percentage of sick children may develop an intense inflammatory reaction called “multisystem inflammatory syndrome”, also known as MIS-C. In this condition, high titers of antibodies to RBD SARS-CoV-2 and autoantibodies to free interleukin (IL) -1Ra are detected. These data should be taken into account when clarifying the prevention and treatment regimens aimed at preventing complications in the pediatric population.

The article presents literature data on the relationship of disorders of the gastrointestinal tract with its microbiota in acute intestinal infections, as well as information on various beneficial properties of the probiotic microorganism Lactobacillus reuteri, including antagonistic effects on pathogenic and opportunistic pathogens, anti-inflammatory and immunomodulatory effects. The clinical and laboratory effectiveness of the use of a probiotic containing the Lactobacillus reuteri B-9448 strain in children with acute infectious gastroenteritis hospitalized. It was found that patients who received this probiotic in complex therapy spent significantly fewer bed days in the hospital compared to children who were not prescribed probiotic. At the same time, no undesirable side effects were registered in the group of patients treated with Lactobacillus reuteri B-9448, which indicates its safety.

Bacteria of the genus Elizabethkingia are gram-negative rod-shaped bacteria found throughout the world. The main reservoir for representatives of this genus is water and soil. Despite this, more and more clinical data are emerging indicating the role of these representatives in the development of nosocomial and community-acquired infections, most often sepsis and meningitis. Risk groups include newborns, children, the elderly, patients with cystic fibrosis (CF) and people with immunodeficiencies. Infections associated with Elizabethkingia spp. are generally associated with high mortality rates (18.2-41%) and are most often observed in neonates and immunocompromised patients. Members of the genus Elizabethkingia are naturally resistant to many of the antibiotics traditionally prescribed for infections with gram-negative bacteria. Timely diagnosis and early initiation of appropriate combination therapy are critical in the treatment of such infections. During the period 2018-2023. Isolation of bacteria of the genus Elizabethkingia was observed from biological material obtained from children with CF and 8 newborn children with a cardiac profile who underwent life-saving surgery due to the presence of congenital heart defects. Bacteria of the genus Elizabethkingia were isolated from 15 patients with CF, of which repeat cultures were noted in five patients; 28 strains were identified during the specified period. Of these, in 2018 and 2020 there were 2 strains each, 2019-13, 2021-6 and 2022-5 strains. In the examined newborns, isolation of these bacteria was detected in 4 patients in 2021, in 3 patients in 2022, and in one patient in 2023, respectively. Bacteria of the genus Elizabethkingia are relatively new and poorly studied pathogens of nosocomial infections associated with a high risk of complications and mortality in premature newborns and immunocompromised patients, which requires increased attention from both medical microbiologists and clinicians of various profiles.

Celiac disease is a chronic disease, with predominant damage to the small intestine and provoked by gluten consumption in genetically predisposed individuals. Previous large-scale studies suggest a possible role of the gut microbiota in the pathogenesis of this disease. Changes in the qualitative and quantitative characteristics of microbiota of different genesis can lead to impaired regulation of immune response, which, in turn, may contribute to the development of gluten intolerance. In this context, it is relevant to analyse the data on changes in the intestinal microbiota in celiac disease and the possibility of its correction with probiotics as one of the strategies for the treatment of children with celiac disease, suffering from celiac disease.

Cystic fibrosis (CF) is a severe progressive hereditary disease associated with mutations in the CFTR gene, characterized by multiple organ pathology, including the upper and lower respiratory tract, gastrointestinal and reproductive tracts, and the endocrine system. Despite new therapy, which significantly increases survival among patients with cystic fibrosis, the development of complications of this disease is still a factor affecting the duration and quality of life. The aim of the study is to demonstrate a clinical case of severe course of cystic fibrosis in a patient with meconium ileus, cystic fibrosis-associated diabetes mellitus, pulmonary and arterial hypertension, cirrhosis, who was under the observation of specialists of the Department of Cystic fibrosis of the Research Clinical Institute of Childhood of the Ministry of Health of the Moscow Region and National Medical Research Center of Transplantology and Artificial Organs named after V. I. Shumakov and underwent death donor liver transplantation. New methods of diagnosis and therapy of complications allow timely detection and control of their course, while maintaining a satisfactory quality of life for the patient

Cystic fibrosis (CF) is a disease caused by pathogenic variants in the CFTR gene. The greatest difficulty at the moment is assessing the contribution to the development of the disease of rare and previously unidentified genetic variants (mutations), mutations of uncertain clinical significance, as well as determining the genotype-phenotype relationship. Additional diagnostic methods are needed due to the large number of patients with borderline sweat test values. Purpose of the study: to study the pathogenicity of a newly identified variant of the nucleotide sequence of the CFTR gene based on assessing the functional activity of epithelial ion channels (ENaC, CFTR, CaCCs). Materials and methods: medical history data, method intestinal current measurement (ICM). Results: the patient had a severe course of the disease. Positive sweat test results, low fecal pancreatic elastase. The ICM method showed the absence of chlorine channel function. Conclusion: For the first time, the clinical features of a patient with the c.2617G>T genetic variant in the genotype have been described. The results of the examination and the clinical course of the disease correspond to the severe course of the disease. Additional use of the ICM method confirmed the absence of CFTR channel function in a patient carrier of this variant of the CFTR gene.

The Hermansky-Pudlak syndrome (OMIM#203300) is a hereditary genetically heterogeneous disease with an autosomal recessive type of inheritance. There are 11 clinical-genetic subtypes with similar clinical manifestations, but some type may difference with each other clinically. The most common is type 1 Hermansky-Pudlak syndrome. Purpose: Describe the features of the clinical picture and diagnosis of Hermansky-Pudlak syndrome type 1. Materials and methods: complex clinic-instrumental and molecular-genetic results from 2 patients from one family with incoming diagnosis of albinism are used. Result: An interdisciplinary approach to the diagnosis of albinism and a step-by-step molecular-genetic study help to verify the clinical-genetic diagnosis in a family. The clinical case demonstrated clinical polymorphism within one family. Two patients have similar dermatological and ophthalmological clinical picture, but have difference in bronchopulmonary system and the blood system. Probang-female has a history of prolonged repeated bleeding, coagulogram changes, obstructive bronchitis, albino phenotype and eyes failure. Her brother has a similar albino phenotype and eyes failure. The pathogenic variant NM_000195.5: c.1189del was revealed in a homozygous state in 13 exon of the HPS1 gene and Hermansky-Pudlak syndrome type 1 was confirmed by molecular analysis. Conclusion: On the example of this clinical observation of a family with Hermansky-Pudlak syndrome 1 type features of differential diagnosis of albinic states are shown, it is noted that complex examination of patients is necessary, molecular-diagnostics genetic analysis and constant follow up of a hematologist, ophthalmologist, pulmonologist, allergologist, dermatologist, gastroenterologist, geneticist and pediatrician.

Fabry disease is a rare hereditary disease related to lysosomal storage diseases, linked to the X chromosome. Fabry disease leads to disruption of glycosphingolipid metabolism due to deficiency or absence of the enzyme α-galactosidase A. Fabry disease is a multisystem progressive disease. One of the first clinical manifestations of Fabry disease is pain in the fingers, toes, palms and feet, and sometimes imitates rheumatological diseases, which requires rheumatologists to have sufficient knowledge about this pathology. The article presents a family case of diagnosis of Fabry disease in the practice of a pediatric rheumatologist.

The clinical observation of a boy with protein-losing enteropathy after the Fontan operation is presented. The boy, S.M., 2 years old, was admitted with complaints of abdominal pain, bloating, enlarged abdomen, frequent watery stools, and peripheral edema in the arms and legs. The child was diagnosed with a congenital heart defect at birth, for which Fontan surgery was performed. One month later, diarrhea and swelling appeared on the face, arms, and legs. Edema was temporarily relieved by symptomatic therapy. At the age of 2, the child was hospitalized in the gastroenterology department of our center. Examinations revealed low levels of total protein and albumin, and an increase in alpha-1 antitrypsin values. The diagnosis of protein-losing enteropathy after the Fontan operation was established. The child was prescribed a diet enriched with medium-chain triglycerides, spironolactone, and prednisolone. After 6 months of follow-up, no edema was observed, and the child’s overall condition was satisfactory. However, over the past year until the present, the boy has experienced slight swelling in the arms, legs, and face, requiring periodic albumin transfusions. Fontan operation and protein-losing enteropathy represent different aspects of medicine; however, sometimes one diagnosis becomes a consequence of another. As a collective of authors, we conducted the research, processed the data, obtained results, and we believe that we are correct. We affirm that the responsibility for the results and activity in writing the material remains with the authors.

The article presents the results of studies of microbiome features in patients with autism spectrum disorders. The role of the microbiota as a part of the enteral nervous system influencing the dynamics of autism symptoms is considered. The links between eating behavior and the severity of autistic disorders, increased permeability of the gastrointestinal mucosa and hypoxia of brain cells, the nature of intestinal dysbiotic disorders, the severity and clinical manifestations of autism are shown. Taking into account the presented data, optimal approaches to the diagnosis and therapy of autism spectrum disorders are shown, which can significantly improve the quality of life of patients.

Stress is a universal evolutionarily determined physiological mechanism that allows to mobilize of organism reserves in life-threatening situations. However, like any mobilisation process, it is possible only for a short period of time. Then, the reserves are depleted and, according to Hans Sellier’s theory, distress occurs. In the context of the human organism, in our case, the child’s organism, stress-induced pathology debuts, which often has a systemic character, affecting many organs and systems. In addition, stress, acting as an epigenetic factor, can provoke the debut of diseases to which a particular individual has a predisposition. The literature review presents the modern concept of stress, its influence on the growing organism of a child and describes a number of stress-associated pathological conditions.

Neurofibromatoses are a group of inherited monogenic diseases with variable expression, characterized by the development of multiple tumors in tissues of neuroectodermal origin. Despite the similarity of phenotypic manifestations, each form differs in the spectrum of clinical manifestations, onset age of the first symptoms, severity of course, and approaches to treatment, the results of which are reflected in the prognosis and patients’ quality of life. The article analyzes the data from domestic and foreign studies on various forms of neurofibromatosis. The diagnostic criteria, pathogenesis, molecular considerations, and clinical manifestations, as well as treatment, including the example of 2 own clinical observations are discussed in this article.

Cystic fibrosis (CF) is a hereditary disease characterized by impaired functioning of the glands of external secretion, the phenomena of maldigestion, malabsorption, chronic inflammation in the bronchopulmonary system, which negatively affects the nutritional status. Among patients with CF, regardless of age, there is a high prevalence of malnutrition, which has a multifactorial nature and leads to somatic and psychological consequences, significantly worsens the course and prognosis of the disease, and reduces the quality of life. The high-risk group consists of adolescent children due to the increased energy needs of the body during this period and the progression of the severity of the disease with age. A good nutritional status (NS) is an important parameter for successful control of the CF flow. General dietary recommendations for CF include an increased energy value of food (up to 200% of the target values of kca /day for healthy individuals) while taking pancreatic enzymes. An increased intake of protein, fat, salt, and fat-soluble vitamins is recommended. Important nutritional factors are polyunsaturated fatty acids, fiber, pre-probiotics, trace elements, and antioxidants. It is necessary to take preventive measures to prevent the development of malnutrition and timely correct existing deficiencies, taking into account the individual characteristics of the patient. For this purpose, specialized therapeutic nutrition is used. A wide range of such products in the form of ready-made (drinks, yoghurts, creamy products) or dry mixes to increase the energy and biological value of the actual diet is the best option for correcting the nutritional needs of patients with CF. They have proven clinical efficacy and safety, are well absorbed and tolerated, convenient and easy to use for patients, which significantly increases compliance and improves the result of treatment. The available assortment allows you to choose a personalized approach to each patient, taking into account the general condition, age, existing complications, and associated diseases. The review highlights the causes of nutritional deficiency, changes in approaches to diet therapy against the background of targeted therapy, enteral nutrition products recommended for patients with MV in the territory of the Russian Federation and indications for their appointment.