The article presents materials and results of the VAll-Russian Anniversary Congress with international participation «5P Children’s Medicine», held in Moscow on March 27-29, 2024. The significance of this event for the development of Russian pediatric medicine and as asignificant event in the world of pediatric medicine is considered in the framework of extrapolating the experience of the best pediatric practices, highlighting new achievements in fundamental and applied pediatrics.

Adolescence is acritical transition period in life. During this period, physical, emotional and psychological changes occur that can greatly affect the development and future life of ateenager. Comprehensive health care for adolescents requires joint efforts of the state, medical institutions, educational institutions and the public. We analyzed the health status of Medical College students, their heredity, socio-economic history, attitude towards bad habits and the consequences of their use using an anonymous survey. The results of the study: adolescents assess their state of health as good and satisfactory in 91% of cases; Only aquarter of respondents noted the presence of chronic diseases; Most teenagers have anegative attitude towards smoking and drinking alcohol.

The aim of the study was to assess the symptoms and identify risk factors for prolonged and complicated COVID-19 during the spread of the Omicron variant in children aged 1 month to 18 years. Materials and methods. The study included 110 children with confirmed COVID-19 of mild or moderate severity at the time of the first examination. The average age of the patients was 6.86±5.09 years. The clinical symptoms, duration of each of the identified symptoms, and complications were evaluated. Acomparative analysis of possible risk factors for prolonged course and development of pneumonia was carried out. Results. The most common cases in children with COVID-19 were an increase in body temperature (in93%), runny nose (in65%), cough (in59%), hyperemia of the posterior pharyngeal wall (in95%) and tonsils (in93%), an increase in regional lymph nodes - in 43%. Among children with the duration of COVID-19 for 10 days or more, astatistically significant late request for medical help (onaverage, by 8.26±5.46 days, compared with 3.00 ± 1.32 days with the duration of the disease up to 10 days). Pneumonia is most often registered among preschool children. The average age in the group of children diagnosed with pneumonia is significantly less than in children who did not have signs of pneumonia of this complication (4.66 ±4.78 and 7.17±4.81, respectively). Conclusions: With the spread of the Omicron variant COVID-19 in children, infection with the SARS-CoV-2 coronavirus is accompanied by symptoms of acute respiratory infection with an increase in body temperature, sore throat, hyperemia of the posterior wall of the pharynx and tonsils. Often there is an increase in regional lymph nodes, runny nose, cough, vomiting, less often - diarrhea. The prolonged course is facilitated by the late onset of adequate therapy. During the study, pneumonia was detected in 25% of children.

Osteoporosis is acomplication of cystic fibrosis, the relevance of studying which is associated with an increase in the life expectancy of patients and an increase in the proportion of adults in the general patient population. The aim of the research is to study exogenous and genetic factors of bone mineral density reduction in patients with cystic fibrosis and healthy children. Methods. 100 children with cystic fibrosis and 61 healthy children over 6 years old were examined. All children underwent X-ray densitometry with the DEXXUM device (South Korea). Vitamin D intake, dietary calcium intake and physical activity were assessed using aquestionnaire. Vitamin D levels were assessed by enzyme immunoassay based on the blood content of its intermediate metabolite 25(OH)D. The determination of biochemical parameters was carried out in the CMD laboratory using the enzyme immunoassay method. Polymorphisms of the VDR, COL1A1, and CALCR genes were analyzed by restriction analysis (PDRF). Results. It was found that patients with CF (38%) are more likely to have low BMD compared with healthy children (18%). Low indicators of nutritional status had anegative impact on the BMD. The processes of osteoresorption prevail over the processes of osteogenesis in CF. The features of the course of the disease neutralize the influence of genetic factors that have been identified in healthy children. The effect of dietary calcium intake was significant for healthy children and had no effect on BMD in patients with CF, since patients adhere to acalcium-enriched diet. The effect of the CALCR and COL1A1 genes and dietary calcium intake on the BMD of healthy children has been established. Conclusion. In cystic fibrosis, the leading risk factors for decreased bone mineral density are: ahistory of meconium ileus, chronic infection with Pseudomonas aeruginosa, low nutritional status, and decreased pulmonary function (FEV1,% predicted). For healthy children, the influence of the CALCR and COL1A1 genes and dietary calcium intake are significant.

Neonatal Hypoglycemia (NH) is one of the most frequent metabolic abnormalities, occurs in the neonatal period, affecting up to 15% of healthy neonates. The definition of NH remains controversial due to the lack of significant correlations between glucose levels blood glucose levels, clinical symptoms, and long-term outcomes. Some approaches define NH on the basis of clinical symptoms, others on the basis of plasma glucose levels. Because of this, there are currently no uniform recommendations on indications for glycemic fixation, reference values and critical glycemic thresholds. In recent years anumber of clinical recommendations for NH in different countries. Thus, the definition of clinically significant hypoglycemia remains one of the most confusing and controversial issues in modern neonatology. We analyzed the available clinical guidelines on neonatal hypoglycemia for the period from 2015 to the present, as well as the available dilemmas of clinical management of children with NH.

Proprotein convertase 1/3 (PC1/3) deficiency is an autosomal recessive disease caused by rare mutations in the proprotein convertase subtilisin/kexin type 1 (PCSK 1)gene, associated with severe malabsorptive diarrhea, obesity and some endocrine abnormalities. Proprotein convertase 1/3 is acalcium-dependent serine endoprotease involved in the proteolytic processing of various prohormones (peptide hormones in enteroendocrine cells that are necessary for the absorption of nutrients and is also expressed in the arcuate and paraventricular nuclei of the hypothalamus, in the beta cells of the pancreas) in their bioactive forms. The onset of the disease in the neonatal period of life is characterized by aclinical picture of severe malabsorption diarrhea, accompanied by developmental delays, and requires long-term parenteral nutrition. As the disease progresses, additional endocrine abnormalities develop, including diabetes insipidus, growth hormone deficiency, primary hypogonadism, adrenal insufficiency, hypothyroidism, and obesity. We conducted aprospective observation of apatient with agenetic disease due to proprotein convertase 1/3 deficiency confirmed during follow-up. The patient was examined and treated at the State Novosibirsk Regional Clinical Hospital in Novosibirsk for 11 months, with repeated (3-fold) hospitalizations. Purpose: to demonstrate the features of the onset and course of the disease, as well as the difficulties in verifying the clinical diagnosis of an ultra-rare genetic disease from the category of endocrinopathies, the complexity of medical support and therapy. Apeculiarity of this case is the fact that the identified mutation in the gene was not previously registered in control Russian samples of the genetic mutation of proprotein convertase 1/3 deficiency, as well as apreviously undescribed variant of the nucleotide sequence in exon 4 of the PCSK1 gene in aheterozygous state and was not registered in control samples gnomAD and RUSeq. Proprotein convertase 1/3 deficiency is adisease that is amultidisciplinary problem, since etiopathogenetic therapy has not yet been developed. The disease has achronic course with constant relapses of intestinal syndrome, is difficult to manage with symptomatic treatments and, as it progresses, has ahigh risk of developing additional endocrinopathies and death. All of the above emphasizes the need for early diagnosis and selection of rational replacement and accompanying therapy to save the lives of patients.

Congenital ichthyosis represents agroup of heterogeneous inherited skin diseases characterized by generalized keratinization disorder in the form of hyperkeratosis, caused by abnormalities in epidermal differentiation. The neonatal period is crucial for patients with ichthyosis due to the risk of developing complications, comorbidities, and fatal outcomes. Most complications arise from impaired skin barrier function. This article discusses the manifestations of ichthyosis in newborns, describes risks and complications, and suggests strategies for monitoring and treating patients. Purpose of the study: to present contemporary data on differential diagnosis and treatment strategies for newborn patients with congenital ichthyosis. Materials and Methods: review of Russian and international sources dedicated to the etiology, diagnosis, and treatment of ichthyosis was conducted. Results: Differential diagnosis of ichthyosis in the neonatal period is acrucial task, hence the most life-threatening subtypes are considered. The most severe progression with ahigh risk of fatal outcomes is characteristic of Harlequin ichthyosis. Collodion baby presents with less pronounced symptoms, is not afinal diagnosis, and may later develop clinical manifestations typical of ichthyosiform erythroderma, lamellar ichthyosis, or self-resolving congenital ichthyosis. Netherton syndrome is characterized by acombination of congenital ichthyosis with structural abnormalities of the hair shaft and apropensity for atopy. Epidermolytic ichthyosis, accompanied by the formation of blisters and erosions on the skin, requires differential diagnosis not only with other forms of ichthyosis but also with bullous epidermolysis, staphylococcal scalded skin syndrome, and toxic epidermal necrolysis. Every newborn with described manifestations requires support from amultidisciplinary team of specialists and timely therapeutic and diagnostic measures aimed at preventing the development of complications and deterioration of the patient’s condition. Conclusion: An analysis of global literature data and the practical experience of the authors indicate the complexities of differential diagnosis of ichthyosis forms in the neonatal period. To improve skin condition, prevent infectious complications, and correct electrolyte and respiratory disturbances, symptomatic treatment should begin before adefinitive diagnosis is established.

Mycoplasma pneumoniae is the most common causative agent of bacterial pneumonia among school-age children. The study analyzed the clinical cases of 460 children hospitalized with radiologically confirmed pneumonia in the period from 2022 to 2023. Pneumonia caused by Mycoplasma pneumoniae was detected in 198 patients. The diagnosis was confirmed by ELISA diagnostics and PCR diagnostics. Clinically, pneumonia of this pathogen proceeded without complications, did not require treatment in intensive care and intensive care. Mycoplasma pneumoniae is most often observed among preschool and school-age children. In this regard, an examination for Mycoplasma pneumoniae should be carried out in preschool and school-age children to identify the pathogen and timely prescribe antibacterial therapy.

Antibiotic resistance of pathogens today belongs to the main global problems of medicine. The aim of the work was to determine the frequency of detection of ESBL-producing and carbapenem/meropenem (CRE) resistant strains of Klebsiella pneumoniae in patients of amultidisciplinary pediatric hospital in various biomaterials. Patients and methods. The results of amicrobiological study of 37,837 samples of biological material obtained from patients aged from birth to 18 years who were hospitalized during 2023 in amultidisciplinary hospital in Moscow with various diseases were analyzed. Results: Klebsiella pneumoniae was found in 1,605 samples (4.2%). Phenotypic tests showed that 653 (40.7%) of them were ESBL producers. ESBL-producing isolates were detected most often in the discharge from the lower respiratory tract (18% - 42 samples), less often in feces and rectal smears (8% - 227 samples), in urine (8% - 110 samples), in blood (5% - 22 samples), in the mucosa oral cavity and pharynx (3% - 186 samples). Among all isolated Klebsiella pneumoniae isolates, 390 (24.3%) ESBL-producing, meropenem-resistant isolates were detected, the largest number of such isolates were detected in intestinal contents (feces and rectal smears): 214 samples - 6%, and the highest detection rate was noted from samples from the lower respiratory tract (8% - 18 samples). Conclusions: The study showed ahigh detection rate of resistant, including ESBL-producing and carbapenem/meropenem (CRE) resistant strains of Klebsiella pneumoniae in hospitalized children. To prevent the transmission and spread of antibiotic-resistant strains, constant monitoring of the resistance of detected microorganisms to antimicrobial drugs is necessary. The data obtained indicate the need to search for new therapeutic alternatives to improve the effectiveness of drug therapy algorithms in pediatrics.

To date, sufficient information is available on changes in the levels of tight contact proteins (TCPs) in various diseases. Of greatest interest is the study of claudin due to numerous studies confirming the important role of this protein in the development of pathologies. Deafness, behavioural changes, and nerve conduction disorders occur due to insufficient claudin production. Claudin is involved in the maintenance of cell polarity due to its apical location in the cell. When pathological processes occur, claudin may undergo phosphorylation, leading to changes in cell polarity and impaired regulation of APC levels. Irritable bowel syndrome is one of the possible causes of impaired regulation of claudin levels. In this pathology there is adecrease in claudin-1 expression. In addition, claudins play different roles in different tumour tissues, and the same protein may be differentially expressed in different forms of cancer. Claudin-4 expression is upregulated as disease progresses in colorectal cancer (CRC), oesophageal squamous cell carcinoma, and its upregulation is associated with decreased invasiveness and metastatic potential, which is positively correlated with improved prognosis. In contrast, overexpression of CLDN 4 in breast cancer (BC) and pancreatic cancer (PC) is positively correlated with invasion, metastasis, angiogenesis and poor prognosis. Aim: systematisation of available data on the biological role and clinical significance of claudin. Materials: review of Russian and foreign literature from 2013-2023.

Currently, there are no uniform accurate statistical data on the development of neonatal sepsis. This critical condition is difficult to diagnose in the early stages due to the lack of reliable markers with high prognostic value, and the use of currently available sepsis markers with high specificity and/or sensitivity is limited to large tertiary level obstetric hospitals. In this regard, as part of the early diagnosis of neonatal sepsis, issues related to amultifactorial assessment of the risk of neonatal sepsis becoming relevant, on the basis of which indications for prescribing therapy for the prevention of this condition will be justified. The most common etiological cause of sepsis is numerous pathogens: bacteria, viruses and fungi. This again leaves difficulties in choosing the right therapeutic tactics, especially within the framework of antibiotic therapy, the protocols of which vary from hospital to hospital not only in our country, but throughout the world. Based on the practice of domestic and foreign colleagues, it is necessary to discuss protocols for the management of patients with such acomplex diagnosis as sepsis.

The article presents to the attention of interested specialists (infectious disease specialists, gastroenterologists, pediatricians) information on the definition and classification of jaundice, the physiology of bilirubin metabolism, pathogenetic mechanisms of the development of hepatic forms of jaundice syndrome and the syndromes observed in this case, as well as diseases, both infectious and somatic, in which parenchymal jaundice occurs. Using aspecific clinical example, the features of the clinical course, diagnosis and differential diagnosis, and tactics of treatment of hepatic jaundice developed in a16-year-old teenager with chronic viral hepatitis C and Gilbert’s syndrome are analyzed in detail.

Neurofibromatosis type 1 (NF1) is acommon (1/3000) autosomal dominant disorder associated with amutation in the NF1 gene, located on the long arm of chromosome 17 (17q11.2). NF1 is diagnosed using well-known clinical criteria: café au lait spots, axillary and inguinal freckles, cutaneous and subcutaneous neurofibromas, optic pathway gliomas, and specific bone abnormalities. The pathognomonic feature of the disease is plexiform neurofibroma (PN), which is abenign peripheral nerve sheath tumor that occurs in 30-50% of patients with NF1. In addition to awide range of clinical manifestations, such as pain, motor, respiratory disorders, neurological deficits, cosmetic defects, etc., there is about a15% risk for the development of malignant peripheral nerve sheath tumors (MPNST). And it should be noted that the treatment of PN is acomplex task that does not have one standard solution. Thus, surgical treatment, which was the “gold standard” and remains one of the main methods of therapy, carries significant risks, such as postoperative neurological deficit, ahigh risk of intraoperative bleeding and is accompanied by ahigh percentage of relapses. Therefore, the emergence of targeted therapy and its use in the Russian Federation since 2021 has made asignificant contribution to the treatment of symptomatic inoperable plexiform neurofibromas.