Today, the contribution of hereditary tumor syndromes to the development of cancer in children is obvious, which determines the need for screening programs and selection of the most effective methods of anticancer therapy. One of the most aggressive hereditary tumor syndromes is heritable TP53-related cancer syndrome (hTP53rc, formerly known as Li–Fraumeni syndrome), characterized by a high risk, early onset and recurrent cases of malignant neoplasms in one patient. The article describes current data on hTP53rc syndrome and the features of its clinical course, and provides international recommendations for monitoring and cancer screening in pediatric patients with hTP53rc syndrome. As a clinical observation, we present an analysis of the registry of patients with relapsed and refractory forms of medulloblastoma (n = 241) with the assessment of its incidence in cases of germline mutations in the TP53 gene with the description of their medical history and the influence of this genetic event on the outcomes. The results of our study, as well as data from international literature, indicate unfavorable prognosis in tumors, including medulloblastoma, in patients with hTP53rc syndrome, however, such factors as early screening, surveillance and early and adequate therapy can help to increase their life expectancy. The study was approved by the Independent Ethics Committee and the Scientific Council of the Almazov National Medical Research Centre of Ministry of Healthcare of the Russian Federation.

Diagnostic and treatment facilities in pediatric oncology have reached a very technological advances in a short period of time, contributing to increased relapse-free and overall survival rates. Obviously, the key factors are the improvement of diagnostic and screening programs, anticancer and concomitant therapy, including personification of clinical guidelines for monitoring and correction of early and late complications in time. Issues regarding the quality of life of patients, including social, psychological rehabilitation and aspects of reproductive potential, are becoming highly actual. The critical importance is that an informed multidisciplinary team of specialists at all stages of anticancer treatment should be involved. This article presents the main algorithms and the most significant issues for pediatricians in the diagnosis and supervision of patients with an oncological diagnosis, using the example of medulloblastoma, as the most common malignant tumor of the central nervous system in children. The proposed recommendations are based on a retrospective analysis of pediatric patients with relapsed and refractory forms of medulloblastoma (n = 270) who received antitumor therapy in the period from 07/01/1993 to 07/01/2023, as well as international clinical data.

Premature infants with bronchopulmonary dysplasia-associated pulmonary hypertension have a longer persistence of apnea of prematurity and periodic breathing. We hypothesized that apnea of prematurity and periodic breathing may be associated with the persistence of pulmonary hypertension in infants with bronchopulmonary dysplasia.The aim of the study was to determine the characteristics of apnea episodes and periodic breathing in premature infants with bronchopulmonary dysplasia-associated pulmonary hypertension.Characteristics of children and research methods. Cardiorespiratory monitoring was conducted on 27 premature infants born at 22 0/7 — 29 0/7 weeks of gestation with a body weight of <1000 grams. All infants had bronchopulmonary dysplasia, and 14 infants with severe bronchopulmonary dysplasia were diagnosed pulmonary hypertension (main cohort).Results. The group of infants with bronchopulmonary dysplasia + pulmonary hypertension had lower average SpO2, higher desaturation index and apnea/hypopnea index as compared to infants without pulmonary hypertension. Four infants from the main cohort had obstructive apnea index of ˃1 events/hour and had high values of 1,1; 2,5; 5,8, and 8,6/hour. In the comparison group, only one infant had a high obstructive apnea index (1,1/hour). Eleven infants(78%) with pulmonary hypertension had episodes of periodic breathing, at the same time only six infants (46%) in the group without pulmonary hypertension had such episodes. Periodic breathing episodes with a drop of SpO2 <90% were registered in 82% of cases in the main cohort and in 67% of cases in infants of the comparison group.Conclusion. Premature infants with bronchopulmonary dysplasia and pulmonary hypertension had more significant decrease in mean SpO2, increased desaturation index and apnea/hypopnea index and tend to have obstructive apnea index >1/hour and longer periodic breathing than infants without pulmonary hypertension.

A clinical case of heart rhythm disturbances in an infant with obstructive sleep apnea syndrome is presented. During the examination, a direct relationship between arrhythmias and respiratory events during sleep was established. During the search for the cause of sleep apnea, standard endoscopic research techniques were uninformative, but the use of endoscopic examination during drug-induced sleep endoscopy made it possible to identify the localization of obstruction.

The aim of the study was to study the relationship between the risk of developing CHD in children and some factors of the perinatal period, the state of health and ethnicity of parents. According to the data of the Perinatal Center of the Republican Hospital No. 1 - National Center of Medicine (PC of the Republic of Belarus No. 1-NCM) for the periods 2001-2003 and 2013-2015, the diagnosis of CHD was statistically significantly more common in children of parents of indigenous nationality. The presence of CHD in parents was associated with higher frequency of confirmed malformations in children. There were no statistically significant relationships between the studied factors of the perinatal period and the frequency of CHD in children. Probably, genetic factors should be considered as one of the main reasons for the development of CHD in the population of Yakutia.

This article presents current data on the features of sleep-related breathing disorders in preterm infants with bronchopulmonary dysplasia (BPD) and pulmonary hypertension. The data on BPD-associated pulmonary hypertension, morphological changes in lung tissue, possible complications and clinical outcomes in this pathology were summarized. The basic data on intermittent hypoxic episodes, apnea and periodic breathing and their influence on the development and maintenance of pulmonary hypertension were reviewed. The methods were described that allow to accurately differentiate the character of sleep-related breathing disorders for the purpose of timely diagnosis and correction of therapy. The feasibility of using polysomnography and cardiorespiratory sleep monitoring as diagnostic methods for this category of patients was substantiated. Key words: BPD-associated pulmonary hypertension, breathing disorder, preterm infants

The aim of the research was to evaluate the prevalence of congenital heart diseases (CHDs) in children of different ethnic groups of the Republic of Sakha (Yakutia). In a 10-year dynamics of cases in Pediatric center of the Republican hospital.1 (National health center), statistically significant increase of the newborns with CHD associated with severe defects has been noticed. It is revealed that more complicated cases of congenital heart diseases are present in children of indigenous peoples of the Republic of Sakha (Yakutia) (indigenous small-numbered peoples of Russia and the Yakuts) rather than in children of the other ethnic groups.

We analyzed the changes in LVMI depending on the BMI and the body composition of the body in children 10–17 years of age. Materials and methods. 112 children were examined: 60 obese children, 26 with overweight and 26 patients in the control group. All the children underwent anthropometry with the calculation of BMI, evaluation of the body composition of the body according to bioimpedance analysis, echocardiography with calculation of LVM and LVMI and detection of arterial hypertension according to the data of daily monitoring of arterial pressure. Results. Children with obesity had large sizes of LV, LVM and LVMI. Arterial hypertension was noted in 60.2% of cases among patients with excess body weight, but significant differences in LVMI in children with and without arterial hypertension were not received. In children with increasing body weight there is an increase in all body components, especially fat mass. With an increase in body weight, the increase in LVM occurs to a greater extent than the increase in active cell mass (reflects the development of LV hypertrophy in obesity). When analyzing the proportions between the LVM and the body components, it is seen that with the development of obesity, LVM in relation to the active cell mass, extracellular and intracellular water sectors increases, but in relation to fat mass significantly decreases. Conclusion. The outstripping growth of LVM in relation to the active cell mass and intra- and extracellular water sectors and the «deficit» of LVM in relation to the fat mass were revealed. In children with obesity, there is no evidence of water retention and the development of left ventricular hypertrophy is not associated with an increase in volume loading, but is apparently due to non-hemodynamic factors.

Obstructive apnea syndrome (OSA) is the most common sleep-disordered breathing in adults and children. It is unknown whether the OSA in children and adults are different syndromes, or a single disease that begins in infancy. Here, we consider the risk factors and features of the obstructive sleep apnea in different age categories: infants born prematurely and suffering from bronchopulmonary dysplasia (BPD), overweight adolescents, and 25-64 years old adults. We demonstrate that the sleep-disordered breathing decreases the saturation in all groups. Premature infants with BPD and pulmonary hypertension (PH) had more desaturation episodes than the group without PH. Adolescents with excessive body weight and obesity had higher blood pressure, lipid and glucose levels. OSA was associated with higher values ​​of lipid metabolism and creatinine levels in adults.

Over last decades in the developed countries, the gain in overweight and obesity both among the adults and children’s population is noted. Obesity in children and adolescents is a predictor of cardiovascular accidents at an older age. Understanding characteristics of the body composition in children with the obesity will increase the effectiveness of therapeutic interventions in the correction of obesity and prevention of the formation of the cardiovascular risk. 181 children aged 10-17 years participated in the study executed in 2011-2015. Anthropometry and bioelectrical impedance analysis were performed in all children. According to BMI, all children were divided into 3 groups: the overweight, obesity and control group. An analysis of the ratio of actual values of body components to the height squared showed a significant gain in all body components to be observed in the group of obese children compared to the control, but the increase in active cell mass (ACM) was significantly lower in comparison with changes in fat mass. Thus, there is a decrease in the number of metabolically active cells in obesity relative to body mass. Analysis of fluid components in examined groups of children revealed a decrease in extracellular fluid sector relative to ACM observed in obesity, which may indicate to the decreased volume of circulating blood plasma and the increase in the blood viscosity. At the same time, a significant extracellular and intracellular fluid deficiency was noted in the adipose tissue in the group with the obesity. Thus, we have not obtained data on the water retention in the development of the obesity in children and adolescents, which may be important for understanding the genesis of hypertension, often associated with the obesity. The fluid deficit occurring in obesity should be taken into account in the appointment of drinking water regime and diuretics.

Objective . The aim of the study was to investigate the anthropometric correlates of left ventricular (LV) structural changes in school-age children (10–17 years old) with overweight and obesity in comparison with children of similar age with normal body weight living in St Petersburg. Design and methods. In the study, according to inclusion criteria, 112 children of 10–17 years old (71 boys) were included, the average age was 14,0 ± 2,1 years. Three groups were identified: 60 (54 %) children (41 boys) with obesity, 26 (23 %) children (16 boys) with overweight and 26 (23 %) children (14 boys) in the control group. All children underwent anthropometry (height and weight, head, chest, waist, thighs, wrist, shoulder, shin and hip circumference, lower segment length, umbilical point, leg length, head height) with calculation of body mass index (BMI), overweight percent, waistto-hip ratio and waist-to-height ratio. Echocardiography was performed according to a standard procedure with calculation of LV mass (LVM), LV mass index (LVMI). On the percentile tables grades of LVM and LVMI were allocated. The relative wall thickness was calculated, and the LV geometry phenotypes were determined. Results. Echocardiography LV dimensions (posterior wall thickness, interventricular septal thickness, diastolic and systolic LV diameter), as well as LVM and LVMI were higher in obese children compared to control group children. LV hypertrophy (LVH) developed in 42,3 % overweight children and in 58,3 % obese children. Normal LV geometry was found in 73,1 % children with normal body weight, concentric remodeling — in 19,2 % cases, and 7,7 % children had eccentric LVH. In the overweight children group, normal LV geometry was determined in 34,5 %, concentric remodeling — in 7,7 %, concentric LVH — in 19,2 %, and eccentric LVH — in 38,6 %. In obese children, the distribution of various types of LV remodeling was as follows: 23,3 % / 3,3 % / 15 % / 58,4 %, respectively. We found a stronger correlation between LVM and body surface area, thigh circumference and shoulder circumference, and LVMI with BMI, overweight percent, shoulder circumference and lower segment length. The waist circumference is less associated with LVH in children. Conclusions. Since childhood, overweight and obesity are risk factors for LVH and the development of various LV geometry phenotypes. Anthropometric markers of myocardial remodeling is an affordable way of early cardiovascular risk stratification in overweight and obese children.

Background. Overweight and obesity in children are accompanied by a wide range of comorbidities. The role of overweight in the formation of cardiovascular diseases is unquestionable, however, the impact of overweight on cognitive functioning is less obvious. Obstructive sleep apnea is a potential factor which affects neurocognitive impairment in overweight children. objective. To assess the relationship between obstructive sleep apnea syndrome (OSA) and cognitive functions in obese and overweight adolescents. Methods. We examined 39 adolescents (26 boys) aged 12–18 years old. Among them 17 persons were overweight, and 22 children were obese. We assessed anthropometric parameters, cognitive functions, respiratory status (cardiorespiratory monitoring) and the main indices of carbohydrate and lipid metabolism. C-reactive protein level as a cardiovascular risk marker was evaluated. Results. More than half patients were found to have sleep-disordered breathing. The adolescents with OSA had higher levels of serum cholesterol, triglycerides and glucose. Abnormalities in main respiratory indices correlated with decreased volume of short-term auditory memory and slower reasoning process. At the same time the difference in neurocognitive characteristics between adolescents with and without OSA was more prominent in the younger age group (12–14 years old). conclusions. Thus, our study has shown that obstructive sleep-disordered breathing in overweight/obese adolescents is a risk factor for some neurocognitive problems.

The dominance of cardiovascular diseases in the structure of mortality and disability in developed countries as well as the increasing incidence of cardiovascular disorders led to development of conception of cardiovascular continuum based on the clinical evaluation of the risk factors for cardiovascular complications. In this regard studying of the initial stages of this process, i. e. childhood and adolescence, is of great interest. It is now apparent that childhood obesity may be regarded as a cardiovascular risk factor in adulthood. This fact also corresponds to the accumulated information on the cardiovascular disease in children and adolescents with obesity and its similarity with the changes found in adults. What also facilitates the importance of this issue is a steady worldwide increase of the percentage of infants with excess body weight, which may lead to possible increase in cardiovascular disease in the near future. The review covers early manifestations of cardiovascular disease in children with obesity, the development of endothelial dysfunction, remodeling of the artery wall and the progression of atherosclerotic lesions in the aorta and peripheral vessels. The review addresses the distinction of the hypertension development and course as well as the indication of cardiac remodeling and diagnostic criteria of left ventricular hypertrophy. The review provides directions in prevention and treatment of cardiovascular changes in children and adolescents with obesity.

Obstructive sleep apnea syndrome in children represents a common and underestimated problem, in particular leading to the behavioral and emotional changes, and cognitive dysfunction. Based on the review of medical literature published between 1980 and 2014 (using the National Library of Medicine’s PUBMED database, Cochrane Database for Systematic Reviews and Russian index of science citation), there is a compelling evidence that sleep-disordered breathing is associated with neurocognitive problems in children. However, despite the available evidence, underlying mechanisms are not clear. The major factors leading to OSAS in children differ at different age, that is undoubtedly important for the management strategy. A correct and timely treatment of OSAS might prevent the development of irreversible changes, in particular neurocognitive characteristics that is one of priority problems of pediatrics and health care in general, because it can promote successful social adaptation of both children and adults.

The dominance of cardiovascular diseases in the structure of mortality and disability in developed countries as well as the increasing incidence of cardiovascular disorders led to development of conception of cardiovascular continuum based on the clinical evaluation of the risk factors for cardiovascular complications. In this regard studying of the initial stages of this process, i. e. childhood and adolescence, is of great interest. It is now apparent that childhood obesity may be regarded as a cardiovascular risk factor in adulthood. This fact also corresponds to the accumulated information on the cardiovascular disease in children and adolescents with obesity and its similarity with the changes found in adults. What also facilitates the importance of this issue is a steady worldwide increase of the percentage of infants with excess body weight, which may lead to possible increase in cardiovascular disease in the near future. The review covers early manifestations of cardiovascular disease in children with obesity, the development of endothelial dysfunction, remodeling of the artery wall and the progression of atherosclerotic lesions in the aorta and peripheral vessels. The review addresses the distinction of the hypertension development and course as well as the indication of cardiac remodeling and diagnostic criteria of left ventricular hypertrophy. The review provides directions in prevention and treatment of cardiovascular changes in children and adolescents with obesity.

Using PCR-RFLP analysis of the frequencies of gene variants, CYP2J2,CYP4A11, and PTGIS, involved in the metabolism of arachidonic acid, were investigated in a group of children with fundamental arterial hypertension and a control group of children in Northwestern Russia. Also, alleles and genotype frequencies of gene variants CDH13, MTHFR, and CDKN2DAS, as well as the locus rs11191548, which were selected earlier due to their association with the development of arterial hypertension by GWAS in Europe and the United States in 2009, were analyzed. No association of any of the investigated markers with the development of arterial hypertension was confirmed.