The article discusses the current state of the problem of providing personalized medical care to newborns with impaired carbohydrate metabolism: neonatal diabetes and congenital hyperinsulinism. Approaches to the diagnosis, prognosis of the disease, the choice of treatment and the evaluation of its effectiveness, based on the results of molecular and genetic research, are considered. It is shown that the introduction into clinical practice of the principles of the personalized medicine contributed to improving the quality of medical care for newborns with endocrine diseases and substantiated the directions for the further development of neonatal endocrinology.

The purpose of the article is a summary overview of approaches to the treatment of infection caused by hepatitis C virus (HCV) in children and adolescents. The article is devoted to issues affecting indications, contraindications and optimal treatment regimens in children and adolescents with chronic HCV infection.

All over the world, 13.2 (11.5–21.2) million children aged 1–15 years have HCV. Chronic HCV infection in children, as a rule, is more lethargic than in adults; extrahepatic manifestations mainly in the form of subclinical hypothyroidism and autoimmune thyroiditis occur, respectively, in 11 and 5.6% of cases. The risk of developing liver cirrhosis in children with chronic HCV infection ranges from 1 to 4%, while bridging fibrosis and severe liver inflammation are described in approximately 15%. The article discusses the issues of therapy: goals, endpoints, indications, contraindications and the optimal treatment regimen in children with chronic HCV infection. The recommendations made by the European Society for Pediatric Gastroenterologists, Hepatologists and Nutritionists (ESPGHAN) are provided.

Conclusion. Chronic HCV infection in children in general is in a benign form, but treatment of the disease is required to achieve success in eliminating hepatitis C.

Human organism is considered as a symbiotic microorganism according to the standpoint of modern science which number of commensal microbes is many times greater than the number of host cells. Normal human microbiota is involved in many physiological processes in the organism, and dysbiosis is associated with the development of a number of diseases. The accumulated knowledge about the composition of the normal microbiome allowed to suggest that its modification can change the course of the disease, and so the study of probiotics was initiated. One of the most studied probiotic strains is Lactobacillus rhamnosus GG (GG), ATCC 53103, isolated in 1985. Due to the strain’s resistance to acid and bile, good growth characteristics and the ability to adhere to the intestinal epithelial layer, Lactobacillus rhamnosus GG is most widely used in a variety of commercially available probiotic products. The article provides a review of the literature on the studies of this probiotic in the treatment and prevention of gastroenterological pathology in children, in particular, current evidence of the effectiveness of Lactobacillus rhamnosus GG in the treatment of acute gastroenteritis, antibiotic-associated diarrhea, as well as the results of studies in necrotizing enterocolitis, functional disorders of the intestine, in the eradication therapy for infection caused by Helicobacter pylori.

Neural tube defects – a group of severe congenital malformations with a high level of mortality, childhood disability. The average prevalence of these defects is approximately 1 per 1000 births. The main measures to reduce the prevalence of neural tube defects are primary and secondary prevention measures, the effectiveness of which can be determined by congenital malformations monitoring.

Research purpose. To determine the prevalence of neural tube defects, as well as trends in their prevalence for 2011 to 2017 in the Russian Federation according to monitoring of congenital malformations.

Results. The total prevalence of anencephaly among newborns and fetuses was 4.63 (95% confidence interval - CI 4.40–4.88) per 10000 births, spina bifida – 6.18 (95% CI 5.91–6.46) and encephalocele 1.34 (95% CI 1.21–1.47). At the same time, the prevalence of anencephaly only among live births was 0.11 (95% CI 0.08–0.15) per 10000, spina bifida – 2.24 (95% CI 2.08–2.41) and encephalocele – 0 25 (95% CI 0.20–0.31). The decrease in prevalence of birth defects among live births compared with the total prevalence is provided by a high level of detection of these defects by ultrasound examination during pregnancy with the subsequent elimination of the affected fetuses. The maximum proportion of eliminated fetuses is observed for anencephaly (90.5%), for encephalocele the proportion of aborted fetuses is 77.4% and for spina bifida – 59.3%. Over the 7-year period, the multidirectional prevalence trends were noted: the increasing trend for total prevalence of neural tube defects and the decreasing trend for prevalence of these defects among live-born children.

Conclusion. Estimates of the prevalence of neural tube defects in Russian Federation regions are obtained. The dynamics of the studied defects prevalence indicates that the decreasing of neural tube defects prevalence among live births is associated with secondary prevention measures.

A qualitative improvement in the management of pregnancy and delivery, optimization of General care and provision of intensive care for children born prematurely, particularly with low and extremely low body weight, significantly reduced the risk of damage to the nervous system of perinatal hypoxic-ischemic genesis. At the same time, there is a significant number of children born at low gestational age, with a significant violation of intellectual, cognitive development and behavior change. One of the assumptions about cause of improper maturation of the brain is the role of unbalanced chromosomal and genomic micro anomalies. There is provided the data on the survey of 22 children with approximately the same clinic of developmental disorders, 19 of which revealed various structural micro-damages of genesis, but their interpretation is difficult today. The algorithm of selection of children for the extended genetic examination is given.

In order to study the medical and social characteristics of families, an analysis of the biological and social history of mothers and fathers of children born with a body weight less than 1500 was carried out. To identify the psychological characteristics, mothers were tested.

It has been established that the social characteristics of the families of children born with a body weight of less than 1500 g was favorable – most families were two-parent, had satisfactory living conditions, mothers and fathers of these children were working and had education not lower than secondary special. The majority of fathers (80%) considered themselves healthy, the state of health of mothers was characterized by a high frequency of somatic pathology, only 27% of women were healthy. The majority of fathers and mothers noted the impact of occupational hazards, while the mothers’ adverse factors were mainly associated with intellectual activity, and the fathers – with physical labor. Half of mothers and 70% of fathers belonged to the age group of 30 years and older. Despite the favorable characteristics of reproductive behavior at the stage of pregravid preparation and in the first trimester of pregnancy, mothers who gave birth to children weighing less than 1500 g were characterized by an unfavorable obstetric gynecological history and a high incidence of gynecological pathology. Psychological features of mothers consisted in a high frequency of accentuation of hyperthymic character traits, a desire to emphasize determination and masculinity, anxiety, impulsivity, which may indicate a compensatory reaction to a stressful situation – the birth of a premature baby. This is also indicated by the high frequency of psychosomatic (45.9%) and authoritarian (29.5%) types of attitude to the problems of the child. In this regard, only 62.2% of mothers established optimal emotional contact with the child by the end of the neonatal period. The revealed psychological characteristics of mothers require early psychological and psychotherapeutic correction to successfully overcome the stress of giving birth to a premature baby and consolidate all the efforts of a woman for habilitation.

Research purpose. To identify the correlation between the clinical signs of neonatal adaptation in the dynamics and the content of trace elements in the serum of newborns of different gestational ages who underwent perinatal asphyxia (main group): 41 premature infants and 27 full-term children.

Results. It was found that there was a direct significant correlation between the concentration of trace elements (Mg, Fe, Zn, Cu), gestational age and Apgar grades (5th minute) in n prematurely born babies during the period of acute adaptation (3-5 days). Reliable feedback was established between the clinical signs of posthypoxic damage to the central nervous system, suppression syndrome and the content of Fe, Mg and Zn, as well as a weakening of muscle tone and the content of Zn and Mg. In full-term babies, the correlation between the content of Fe, Zn, Mg in the blood serum and clinical indicators was expressed more clearly. In these children, a significant positive correlation was observed between the Ca content in the blood and the syndrome of neuro-reflex excitability.

Conclusion. The determination of trace elements in blood serum in newborns in the dynamics of the neonatal period (3-5th and 21-28th days of life) makes it possible to predict the course and severity of hypoxic-ischemic damage to the Central nervous system.

The article presents data on the functional state of endothelium in children of the first year of life, born with different variants of intrauterine growth retardation syndrome. The main group consisted of 60 full-term newborns with hypotrophic and hypoplastic variants of intrauterine growth retardation syndrome. The comparison group included 20 full-term newborns with normal anthropometric indicators. The examination was conducted on 7–10 days of life and at the age of 1 year of life. Newborns of the main group had deviations in health status: perinatal damage to the central nervous system, anemia, irregular colonization of the intestinal microflora, hyperbilirubinemia. Violations of the functional state of the endothelium was manifested by a change in the ratio of vasoconstrictors and vasodilators, in particular, a reduced content of endothelin-1 and nitric oxide in the blood and an increased content of renin and vascular endothelial growth factor. During the first year of life, all children were diagnosed with physical underdevelopment. Violation of the functional state of the endothelium was manifested by an increase in the level of endothelin-1, which is a vasoconstrictor. The results obtained allow to suggest that the identified changes contribute to the disruption of blood circulation and gas exchange in the organs and systems that ensure the growth and development of children.

Study purpose. To determine the prevalence of syncope among young elite athletes.

Material and methods. In the course of the study “Epidemiology of the syncope in children and adolsceents in elite sport (EPISODE-S)” ** 1687 young elite athletes 16.3±1.5 years old, members of the Russian National teams from 52 sports discipline were surveyed. Control group was 1732 nonathletes the same age and gender.

Results. 113 (6.7%) athletes had syncope (girls – 73.5%). More often, syncope registered in basketball (10.5%), judo (10.3%), rhythmic gymnastics (9.1%), figure skating (8.0%), volleyball (7.4%). According to the results of questioning in schools, syncope was noted in 4.2% of students. In all cases among athletes syncope had neurally mediated (reflex) nature by the results of the additional examination. Four out of 1687 athletes (0.24%) had the long QT syndrome, but they haven’t got syncope.

Conclusions. 1. In the young elite athletes prevalence of syncope is 6.7% (4.2% for non-athletes) and significantly more common in girls (11.6% vs. 3.4%). More often, syncope occurs in sports where tall athletes are selected (basketball, volleyball) or strict weight control is required (rhythmic gymnastics, figure skating, judo). The majority of the young athletes has benign neurally mediated nature of syncope and doesn’t need restrict for the sport, but the first of all they require the exclusion of diseases with a high risk of sudden cardiac death.

** Epidemiology of the syncope in children and adolsceents in elite sport (EPISODE-S)

Research purpose. To determine the frequency and severity of connective tissue dysplasia in children with urinary tract infection to predict the course of the disease and justify the scope of the survey.

Characteristics of children and research methods. A prospective study was conducted during 5 years, which included 120 children with community-acquired urinary tract infection at the age of 1 to 17 years. There were 90 children with acute pyelonephritis and 30 patients with acute cystitis. All children underwent a clinical and instrumental examination with a study of the manifestations of connective tissue dysplasia and assessment of its severity.

Results. Connective tissue dysplasia occurred in 30% of children with urinary tract infection and depended on the form and course of pyelonephritis. With secondary pyelonephritis, its frequency increased to 56% with a predominance of the first degree of severity. When prospectively observed, only in 2 out of 30 girls with acute cystitis, the disease took a chronic course; one of them was diagnosed with connective tissue dysplasia of the I degree of severity. A relapse-free course of pyelonephritis was observed in 54 (68%) children. In 25 (32%) patients with secondary pyelonephritis, the course of the disease was recurring; in this group, connective tissue dysplasia was significantly more frequent and was observed in 23 (92%) of 25 patients.

Conclusion. If seven to ten external signs of connective tissue dysplasia are detected in children with pyelonephritis, it is necessary to examine not only the urinary system, but also other systems for complex treatment.

Research purpose. To determine the state of the genome instability in patients with juvenile rheumatoid arthritis and to assess its dependence on biological (age and sex) and clinical (form and variant of the flow of juvenile rheumatoid arthritis, its activity, duration, functional class and serotype of the patient) parameters.

Material and methods: 95 children were surveyed. Among them, 68 (39 girls and 29 boys) – with various forms of juvenile rheumatoid arthritis, 12 – without treatment (at the stage of verification of the diagnosis). The control group consisted of 15 conditionally healthy children aged 3 to 16 years. To assess the genome instability, the method of determination of micronuclei in peripheral blood binuclear lymphocytes under the conditions of a cytochalasin block (in vitro) was used.

Results: All examined children in the active form of the disease showed a significant increase in the level of binuclear lymphocytes with micronuclei in lymphocytes compared with a group of conditionally healthy children. The maximum values of this indicator were observed in the age group from 5 to 10 years and in children with a disease duration of up to 1 year. As the activity of the process increases, the level of binuclear lymphocytes with micronuclei rises. After treatment, a significant decrease in the indicator content was detected in patients with the II degree of disease activity in both cases of juvenile rheumatoid arthritis.

Conclusion. Statistically significant increase in the level of binuclear lymphocytes with micronuclei in peripheral blood lymphocytes may indicate the formation of genome instability in children as a pathogenetic part in juvenile rheumatoid arthritis.

Hip instability and following hip luxation and subluxations remain common and serious problem among children with cerebral palsy (CP). The hip luxation and subluxations can be avoided using timely monitoring and early preventive treatment. However, standard scheme for patients’ management in children with CP is not adopted so far in Russian Federation. In 2014 on the territory of Tyumen region the Europe surveillance program for children with CP (CPUP) was introduced.

Research purpose. To analyze the effectiveness of the early orthopedic complications prevention program in children with CP. Material and methods. The study included children with CP of the «Child psychoneurological medical-rehabilitation center «Nadezhda» register born in 2010 and earlier (n=176), undergoing surveillance under the European Program (main group); the comparison group consisted of children with CP which were treated before the adoption of the program (n=642). Group comparability was achieved by selecting children with one level of motor impairment according to the GMFCS classification. The presence of expressed orthopedic complications was exposed at the value of Reimers Index (RI) above 40%, and the effectiveness of the program was determined by a reduction in the frequency of such RI.

Results. It was found that overall incidence of hip dislocation in control group decreased by 70%: in children with GMFCS II by 100%, GMFCS III – by 78%, GMFCS IV – by 62% and GMFCS V – by 74%.

Conclusion. Due to the introduction of the Europe surveillance program on the territory of Tyumen region there is a significant decrease in orthopedic complications incidence in children with CP.

Actuality. Over the past decades, there has been a steady increase in the number of oncological diseases in children, most of which are detected at common stages. Moreover, only 5.2% of patients are actively detected (during routine preventive examinations).

Material and methods. In order to detect oncological diseases in children in the early stages, an “Algorithm for determining the feasibility of referring a patient for consultation with a pediatric oncologist” (hereinafter referred to as the Algorithm) has been developed, which is a questionnaire of 20 questions. Answering with unambiguous answers (yes / no), a local pediatrician may decide on further tactics of examination and treatment of the patient. In order to analyze the results of the implementation of the Algorithm, a “Questionnaire for a local pediatrician to evaluate the effectiveness of the implementation of the Algorithm for determining the feasibility of referring a patient for a consultation with a pediatric oncologist” has been developed, which consisted of 10 questions.

Results. 427 district pediatricians took part in the medical and social study, taking into account stratification by federal districts of the Russian Federation: from the Central Federal District – 101 (23.6%) respondents, from the North-West Federal District – 40 (9.2%), from the Southern Federal District – 47 (10.9%), from the North Caucasus Federal District – 32 (7.7%), from the Volga Federal District – 92 (21.4%), from the Ural Federal District – 32 (7.7%), from the Siberian Federal District – 55 (12.9%) ), from the Far Eastern Federal District – 28 (6.6%). After the implementation of the Algorithm in clinical practice, the number of patients referred for consultation with a pediatric oncologist increased, which was noted by 61.9±2.4% of respondents. In this case, the Algorithm is used by 11.3±1.5% of the respondents, sometimes used by 12.6±1.6%, used if they are suspected of having an oncological disease by 21.9±2.0%. Among those who do not apply the Algorithm in clinical practice, 78.1±2.0% indicated that they had not received it before.

Conclusion. A survey showed the feasibility of introducing into clinical practice the “Algorithm for determining the feasibility of referring a patient for consultation with a pediatric oncologist”.

Timely diagnostics and treatment of cytomegalovirus infection in pregnant women and newborns allow to avoid serious consequences, preserving the life and health of the child. The article provides an example of antenatal diagnosis of congenital cytomegalovirus infection in the fetus (positive result of polymerase chain reaction in umbilical cord blood), treatment with umbilical transfusion of donor red blood cells, postnatal therapy with antiviral drugs, including ganciclovir and specific immunoglobulin. The issues of assessing the risk of congenital cytomegalovirus infection, approaches to its prevention and treatment during pregnancy are discussed.

The case of observing a patient with WT1 gene mutation in exone 7 with bilateral Wilms metachronous tumor, disturbance of the sex formation in the form of scrotal hypospadias and bilateral abdominal cryptorchidism, without nephropathy, is presented. The child underwent surgical operations: left-sided nephrectomy, resection of the lower pole of the right kidney, bilateral orchiopexy and two-stage hypospadias correction. 7 years after the start of treatment and 3 years after the final operation, the condition of the child was estimated as satisfactory. The presented case by the results of the molecular genetic study has no previously described analogues and requires further observation.

A description of 13 clinical cases of acute focal bacterial nephritis in children aged from 1 year to 4 years and 8 months (2.6±1.1 years), made up 1,61% from hospitalized for acute urinary tract infections in accordance with existing ideas about this pathology, is presented.

Acute focal bacterial nephritis is a rare variant of acute pyelonephritis that can transform into a purulent process, accompanied by nonspecific signs of acute urinary infection with persistent fever and signs of a systemic inflammatory response, which is recognized by visualization technologies. Ultrasound investigation in the case of acute focal bacterial nephritis usually reveals focuses of hyper-echogenicity of one of the kidneys and/ or signs of nephromegaly. The reserve method for diagnosing pathology is the computerized tomography. Adequate treatment of acute focal bacterial nephritis must include mandatory intravenous administration of antibiotics for at least 3 weeks , which allows for a favorable outcome of the disease.

Esophageal atresia is a malformation in which the upper and lower segments of the esophagus are separated. In this case, one or both segments may have a connection with the trachea.

Purpose: to familiarize medical practitioners with a rare clinical case of esophageal atresia. The clinical variant of esophageal atresia presented in the publication has not yet been described in the medical literature; according to the clinical characteristics, it is most consistent with type 3B according to the classification of E. Vogt. Diagnosis and treatment of this malformation is carried out according to the previously developed standard protocol for diagnosis and treatment. The key diagnostic method is thoracoscopy, in many cases the malformation is detected intraoperatively (the main diagnostic method).

The history of a sick child, a characteristic of clinical symptoms, data of paraclinical research methods, methods and favorable treatment results are provided.

Various methods and variants of nasal cavity irrigation are one of the most ancient in the treatment and prevention of diseases of the upper respiratory tract. When choosing a remedy for elimination and irrigation therapy, preference is given to preparations based on sea water, containing in its composition minerals and trace elements that cause additional therapeutic effect. A new direction in this type of therapy is the use of drugs containing fucoidans (obtained from brown algae extract). Their immunostimulatory and anti-inflammatory effect can improve the effectiveness of elimination and irrigation therapy in symptomatic treatment of ARVI / influenza and their complications (sinusitis, adenoiditis).

The article discusses in detail advantages and disadvantages of combined mucolytic therapy in children, the requirements for the composition and purpose of such drugs. Such drug as Ascoril expectorant is considered to be a successful combination, pathogenetic mechanisms of the synergistic action of its components. The clinical experience of Ascoril expectorant application demonstrated its high clinical efficacy and safety, which makes it the first choice for bronchitis, mild bronchial obstruction in outpatient pediatric practice

Since antiquity people have known about the health benefits of fermented milk products. These products are obtained by lactic acid fermentation using various microorganisms, but primarily Lactobacillus spp. The number of varieties of fermented milk products is large. The most famous are yogurt, kefir, lapper milk, baked yogurt, sour cream. Yogurt is made using sourdough including Streptococcus thermophilus and Lactobacillus bulgaricus. Numerous positive effects of yoghurts are shown, including the antibacterial effect against many pathogenic microorganisms. Yogurt, like other fermented milk products, have a reduced lactose content compared to whole milk, which allows people with lactase deficiency to consume this product. In addition, the protein of fermented milk products is more accessible to enzymes of the gastrointestinal tract and is easier to digest. The hypocholesterolemic effect of yogurt is also shown. Fermented milk products, including yogurt, are recommended for baby food. In particular, the efficacy of drinking yogurt enriched with prebiotics and probiotics is shown for both healthy children and children with functional disorders of the gastrointestinal tract, disorders of the intestinal microflora, whose who is sick often and long, as well as in the acute period of acute respiratory viral infections and at the convalescence stage. Thus, the ideas about the importance of fermented milk products for health and longevity, expressed more than 100 years ago, today have a solid scientific basis and research in this direction continues.

In the early twentieth century in Moscow consistent development of city system of health care delivery to mothers and children was carried out. Under the leadership of the outstanding Russian obstetrician G. L. Grauerman, a medical complex was created, which included the Lepekhin maternity hospital and the Timister hospital for postpartum patients. Here for the first time in our country systematic protection of motherhood was carried out. The experience of the institution in 1916 was recommended for widespread distribution in Russia, and after the revolution was used to build the Soviet health care system. The example of the complex showed that in Russia it was possible to implement effective measures for the protection of infancy. The receiver of the complex is the Moscow regional research Institute of obstetrics and gynecology (MONIIAG).