Timely prenatal diagnostics of congenital malformations (CM) in the fetus allows for planned routing of pregnant women and their newborns to specialized medical care centers, to the perinatal center (PC). Women are referred to medical organizations that have pediatric surgery and cardiac surgery departments. Delivery of pregnant women with CM of the fetus in perinatal centers provides the opportunity to receive high-tech medical care for the newborns in the next few hours after birth, which involves surgical intervention. It allows promptly determining tactics for newborns with multiple congenital malformations (MCM). This approach to patient routing helps reduce infant and child mortality rates in the region and improve the quality of life of children with CM. This ensures full and dynamic registration of CM in the region - the development of strategies to prevent their occurrence. Objective. To analyze the structure of congenital malformations, the timeliness of their diagnosis and outcomes in children born in the regional perinatal center in one calendar year. This is necessary to initiate the development of a regional database on children with CM, optimize the provision of medical care to mothers and children in the Novosibirsk region. Material and methods. Pro- and retrospective analysis of individual medical records of pregnant and puerperal women, birth histories, neonatal development histories and inpatient medical records. Results. In total, 492 children with CM were born in the OPC in 2023, which accounted for 9.3% of all births. 433 (88%) children with confirmed CM live in the Novosibirsk Region, the rest (12%) live in various regions of the Russian Federation. CM of the fetus were detected prenatally in 300 (61%) cases of pregnancy, in 192 (39%) they were diagnosed for the first time only postnatally. The general structure of CM is represented by isolated (mono) defects in 434 (88.2%) and multiple defects in 58 (11.8%) patients. CM were distributed among body systems as follows: cardiovascular system - 159 (32.3%), genitourinary - 133 (27.1%), multiple congenital malformations - 58 (11.8%), musculoskeletal system - 39 (7.9%), central nervous system - 28 (5.7%), gastrointestinal tract - 25 (5.1%), maxillofacial system - 24 (4.9%), skin malformations - 11 (2.2%), respiratory system - 5 (1%), visual organ 4 (0.8%). Chromosomal syndromes were confirmed in 6 (1.2%) children. Conclusion. The structure of diagnosed CM in children born in the PC differs significantly from the structure of CM subject to monitoring. This confirms the need to develop a regional database of children with CM to determine the epidemiological trends of the region. CM are the second leading cause of infant mortality in the Novosibirsk Region. Therefore, the development of a regional program for their prevention is considered a reserve capacity for reducing this indicator.

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 the c.2900T>C variant of the CFTR gene in a patient with the c.1521_1523delCTT and c.2900T>C variants in a heterozygous state based on an assessment of the functional activity of epithelial ion channels (ENaC, CFTR, CaCCs). Materials and methods: clinical information about the patient from the medical history, intestinal current measurement (ICM) method. Results: the patient had borderline sweat test results, normal pancreatic fecal elastase levels, spirometry within the age norm, which corresponds to a mild course of the disease. The ICM method showed normal chloride channel function. For the first time in Russia, clinical features of a patient with the genetic variant c.2900T>C in trans -position with the variant c.1521_1523delCTT are described. Conclusion: the results of the examination, the clinical course of the disease correspond to a mild course of the disease or its absence. Additional use of the ICM method confirmed the normal function of the CFTR channel in a patient carrying the c.2900T>C variant of the CFTR gene in trans-position with the c.1521_1523delCTT variant.

Introduction: small intestinal bacterial overgrowth (SIBO) in the small intestine is one of the risk factors for the development of secondary malabsorption syndrome and growth retardation in children. Aim: to identify features of anthropometric indicators and body composition in children with gastroenterological pathology and diagnosed SIBO. Patients and methods: 117 children were examined, median age 13,0 [11,0: 15,0], 65 (55,6%) boys and 52 (44.4%) girls with digestive diseases (functional dyspepsia, GERD, chronic gastroduodenitis), of which 60 children with hydrogen-induced H2-SIBR (group No. 1) and 57 children without H2-SIBR (group No. 2). A standard clinical, laboratory and instrumental examination was performed. The determination of H2-SIBR was carried out using a non-invasive method - the Lactofan hydrogen breath test. For an integral assessment of the hydrogen level for 90 minutes. The AUC index (Area Under Curve, “area under curve” H2, ppm) was calculated in exhaled air. The measurement of body component composition (absolute, FM, kg, and percentage of fat,%FM, lean mass content,%LMC, active cell mass, AKM, kg) was performed using bioimpedance measurement («Diamant»). Results: There were no statistically significant differences in the main (length, body weight, BMI) and additional anthropometric indicators (waist and hip circumference, their ratio) between group 1 and 2 (p>0.05). In patients of group 1, in comparison with group 2, both the frequency of low%LMC (23/38.4% and 5/8.8%, p = 0.048) and the frequency of low content of ACM (25/41.7% and 8/14.0%, p = 0.015) in the body were statistically significantly higher. AUC H2 (0-90 min.) was significantly higher in children with low than normal levels of ACM in the body of children of group 1 (51.00 [22.00-62.0] and 16.00 [7.50-38.0], p = 0.047). Conclusion: In practical work in patients with diseases of the digestive system and identified SIBO, it is extremely important to timely identify deviations in the nutritional status using not only anthropometric methods, but also a more accurate method - bioimpedance, followed by timely dietary, non-drug and drug correction of both the underlying disease and SIBO.

Recently, the idea of pain in newborns and its consequences for the body has undergone significant changes, in terms of the need for anesthesia. When a child stays in a perinatal center or maternity hospital, both premature (especially) and full-term children are subjected to a number of painful procedures and manipulations. Pain prevention and an adequate level of analgesia during medical procedures and manipulations will significantly reduce discomfort in a child, help minimize metabolic and hormonal changes that are inevitable in stressful situations, and also increase the child’s tolerance of nursing procedures and painful manipulations. The purpose of the study was to study methods of non - drug anesthesia during painful procedures and manipulations in the conditions of the department for newborns of the Balashikha maternity hospital (intramuscularly administration of sodium bisulfite menadion, vaccination against hepatitis B, blood sampling for neonatal screening). The analysis of several non-drug methods of anesthesia for performing some painful manipulations in the neonatal unit was carried out. The most effective and safe method of anesthesia turned out to be breastfeeding during painful manipulations. Taking into account the results obtained, the Balashikha maternity hospital has introduced into daily practice a technique for anesthetizing newborns while feeding a child from the mother’s breast.

The study of the potential role of anaerobic bacteria in CF and their involvement in the pathophysiology of CF is important for understanding the influence of anaerobic flora on the damage to the bronchopulmonary system in cystic fibrosis. Objective: to determine the anaerobic diversity of the respiratory tract microbiota and its role in CF, to determine the resistance of anaerobic bacterial strains to antibacterial drugs. Materials and methods Sputum samples from 65 pediatric patients with cystic fibrosis were examined for anaerobic flora, a total of 86 samples of discharge from the lower respiratory tract were taken. Group 1 without anaerobic flora culture amounted to 56/86.2% of people, group 2 with anaerobic flora culture - 9/13.84% of people. To assess the effect of anaerobic flora on lung function, two groups of patients were identified - a group with Pseudomonas aeruginosa culture - 31/47.7% patients and a group of patients with Pseudomonas aeruginosa culture and anaerobic flora - 9/13.84%. Results: long-term persistence of anaerobic flora in severe patients and re-infection with anaerobic bacteria, including new species, were shown. Fusobacterium necrophorum isolated from one patient with cystic fibrosis had complete resistance to 7 antibacterial drugs, and sensitivity in increased concentrations to 4 antibacterial drugs, including metronidazole. The addition of anaerobic flora significantly aggravates the course of the chronic bronchopulmonary process, which is shown in the study with statistically significant differences in nutritional status indicators - patients with anaerobic flora culture had worse indicators M ± SD BMI per 21.5 ± 15.49 compared to the group of patients without anaerobic flora culture 35.43 ± 27.96 (p2-3 = 0.03), FEV1 57.60 ± 24.99, without AnM culture 82.69 ± 23.24 (p2.3 = 0.036), FVC 67.40 ± 15.63, in the group without AnM culture 87.62 ± 23.71 (p2.3 = 0.049), and including when comparing groups with an increase in P. aeruginosa and the group with the growth of P. aeruginosa in association with anaerobic flora - FEV1 57.60% ± 24.99 of the expected value in the group with the growth of anaerobes and 77.44 ± 22.89% of the expected value in the group with the growth of only P. aeruginosa (p = 0.033), FVC - 67.40 ± 15.63% of the expected value versus 85.43 ± 18.66% of the expected value, respectively (p = 0.041). Conclusion. The addition of anaerobic flora significantly aggravates the course of the chronic bronchopulmonary process, the possible long-term persistence of anaerobic flora in severe patients is shown, it is necessary to examine patients with CF during an exacerbation for the presence of anaerobic flora. It is necessary to include antimicrobial drugs with activity against anaerobic bacteria in the treatment of exacerbations in the absence of an effect from antimicrobial therapy.

This article analyzes the dynamics of antibiotic resistance of Klebsiella pneumoniae, Escherichia coli, Pseudomonas aeruginosa, colonizing various loci of patients in serious condition and / or with palliative status. An increase in resistance to antibacterial drugs used both as first-line therapy and as reserve antibiotics is shown. The situation with an increase in antimicrobial resistance requires the formulation of a microbiological diagnosis when discharging a patient from the hospital, microbiological monitoring of multiresistant pathogens after discharge from the hospital, including among patients with palliative status.

Tetralogy of Fallot (TOF) is most common cyanotic congenital heart disease (CHD), representing up to 7% of all CHDs. The prevalence of ventricular septal defect (VSD) patch leakage after the surgical repair of TOF is reported to be around 9%. VSD patch leakage after TOF repair, depending on the size and remaining pulmonary stenosis can lead to several complications as like native VSD. Thranscatheter closure of a such defects always challenging.

Melatonin is a protein hormone produced in the epiphysis and secreted into the blood and cerebrospinal fluid. For quite a long time in the scientific world it has been known about the importance of the hormone of the pineal gland on circadian rhythms. However, melatonin can have a large number of pleiotropic effects: antioxidant and anti-inflammatory effects, immunoregulatory properties, antihypertensive and neuroprotective effects, effects on the development of the placenta and fetus, pregnancy, as well as carbohydrate and lipid metabolism. We must not forget about the huge influence of the hormone on the mother - placenta - fetus system. There is growing interest in studying the effect of melatonin on systemic and tissue inflammatory reactions, which are one of the causes of hypertension and obesity. Progressive target organ damage involving excessive production of inflammatory mediators renders anti-inflammatory therapy strategies ineffective. Melatonin has been proven to help lower blood pressure, body weight and inflammation. The mechanisms of action of this ancient defense molecule involve several levels, from subcellular to intercellular. Cell mitochondria are a key element contributing to the development of an inflammatory response in vascular and adipose tissue and, accordingly, a potential pharmacological target. Melatonin, in turn, protects against mitochondrial dysfunction. This article will consider the main mechanisms of the influence of the hormone on metabolism, its role in preventing the development of systemic inflammation.

The publication is timed to coincide with the 55-th anniversary of the death of Academician G.N. Speransky The article presents the main milestones in the life and work of the G.N. Speransky, the scientific priorities of the physician. The academician is the author of more than 200 scientific papers on the development of problems of physiology and pathology of children of different ages and their treatment.