The article studies a legal status and specific legal aspects in the practice of the infectious disease specialist. The authors of the article emphasize how important it is to develop legal literacy and competence (as one of the doctor’s professional competencies) within the framework of continuing professional education programs.

The design of new growth standards for infants in first years of life is one of the important problems in pediatrics today. Clinical issues showed, that body mass indices are not representative for body composition and couldn’t be used as indicators of growth harmony. In definite periods of age, body mass indices correlate with fat-free and fat mass and can be predictors of metabolic disturbances in adulthood. Child’s feeding in first year of life substantially influences to monthly gain of weight, height and head circumference; growth rate is also determined of gestational age. For growth assessment in premature infants, especially born before 27 week of pregnancy, special centile growth curves with considering of feeding and modern nursing tactics should have be used.

The authors analyzed the literature data on the importance of the content and determination of the endothelial progenitor cells in the blood of pregnant women and newborns. The endothelial progenitor cells reflect the condition of the endothelium, its damage or regenerative capacity and they play an important role in the regulation of vascularization. The number of endothelial progenitor cells and molecular markers regulating their functions in the blood of a pregnant woman and a newborn may be of diagnostic importance for the prediction and diagnosis of pregnancy complications in the mother and perinatal pathology in newborns, which is relevant for the search for methods of targeted correction of these disorders.

The article reflects the literature data on the immune response mechanisms to rotavirus infection. The authors note that innate immunity factors play the leading role in protecting the organism from rotavirus. They demonstrate that both cellular and humoral components of the immune system are important in the pathogenesis of rotavirus infection. The protective effect is based on the activation of interferon and other cytokines, as well as TLR – innate immune receptor for double-stranded rotavirus RNA. The authors also describe the age-related aspects of the immune response, which cause a higher susceptibility to rotavirus in the neonatal period and its reduction with age.

Objective. To analyze the age structure of the mothers of children with birth defects and to assess the age-related risks of chromosomal and non-chromosomal congenital anomalies.

Material and methods. The authors analyzed the data from 23 regional registers of birth defects from 2011 to 2018. There were total 5 047 468 births during this period. The authors calculated the incidence and relative risks of chromosomal and non-chromosomal birth defects in different age groups of mothers: under 20, from 20 to 34, from 35 to 39, 40–44, and above 45 years old.

Results. The incidence of chromosomal abnormalities significantly increases with the mother’s age. The relative risk (RR) of chromosomal abnormalities in different age groups: 4,67 (95% CI 4,44–4,92) in Group 35-39, 15,00 (95% CI 14,10–15,96) in Group 40–44, and 26,49 (95% CI 21,89–32,07) in Group ≥45 as compared with the main age group of 20–34 years old. The authors also revealed the dependence of the non-chromosomal birth defects on the age of the mother: RR 1,15 (95% CI 1,08–1,23) in Group <20 years, RR 1,18 (95% CI 1,13–1,23) in Group 35–39, RR 1,35 (95% CI 1,24–1,47) in Group 40–44, and RR 2,03 (95% CI 1,47–2,79) in Group ≥ 45 years old.

Conclusion. The study demonstrates the dependence of chromosomal and non-chromosomal birth defects on the mother’s age.

The article present the results of retrospectively analyzed children (4424 boys) with mental and psychomotor retardation, congenital malformations and/or developmental micro anomalies. 23 children had various forms of Y chromosome dysomy syndrome. The frequency of this syndrome in the studied cohort was 0.52%; and in this connection the authors discussed the role of Y-chromosome in the origin of mental retardation. Besides, the chromosome instability in sex and somatic cells is supposed to be a common mechanism of different chromosomal anomalies. The authors discussed the possibility of cytogenetic and molecular cytogenetic diagnosis, and also clinical polymorphism of the syndrome. The authors established the necessity of molecular cytogenetic technologies in the diagnosis of different forms of the syndrome, including mosaic forms and isodicentric chromosomes-connected forms. The severity of clinical symptoms doesn’t depend on presence of regular or mosaic forms of the syndrome. The study assumes a possible connection of clinical polymorphism with mosaisism, associated with the presence of abnormal cells (cell lines) in different tissues, together with the role of Y chromosome in the origin of mental retardation in children with Y- chromosome disomy syndrome and other chromosomal anomalies. The authors underline the necessity of molecular cytogenetic diagnosis of different forms of the syndrome for correct medical and genetic consultation.

Bronchial asthma as the most common respiratory tract disease is an urgent problem of modern medicine. Matrix metalloproteinases (MMР) play a significant role in the processes of inflammation maintaining and bronchi remodeling in children with bronchial asthma.

Objective: To study the role and inheritance of MMR9 in the bronchial asthma pathogenesis in children.

Characteristics of children and research methods. The authors carried out the prospective study of 54 children with bronchial asthma and 56 healthy children with the determination of the MMP-9 level in blood serum, as well as the polymorphic variant 8202A>G of MMP9 gene.

Results. Children with bronchial asthma had significantly higher content of MMP9 in the blood serum (431.76 [306.15; 612.93] ng/ml), as compared to the control group (276.05 [160.33; 397.02] ng/ml). When studying polymorphism 8202A>G of MMP9 gene in the examined patients it was found that the children with bronchial asthma had the G allele a little more often (57.5%) than A allele (42.5%). Heterozygous carriers of the MMP9 gene polymorphic variant predominate both among the patients with bronchial asthma and in the control group. When comparing the frequency of genotypes and alleles in the group of children with bronchial asthma and control group the authors revealed no statistically significant differences.

Conclusion. The disease mechanism significantly depends upon the MMR9 concentration in the serum of patients with bronchial asthma and the peculiarities of this enzyme inheritance.

There is a high incidence of acute intestinal infections in the Russian Federation. Children rapidly develop clinical manifestations of acute intestinal infections. The severity and outcome of the disease are largely determined by the dehydration syndrome. The article presents the results of the effectiveness of oral rehydration in 2 groups of children with acute intestinal infection from 3 months to 7 years old, treated with hypoosmolar glucose-saline solution “Gastrolit with chamomile extract” (n=215) or “Rehydron” (n=188) in the complex treatment of intestinal infections with the dehydration syndrome of I or II degree. The groups were comparable by sex, age, clinical manifestations of the disease. It was found that “Gastrolit with chamomile extract” eliminates water-electrolyte disorders, relieves metabolic acidosis and has anti-inflammatory, antiseptic and antispasmodic effect on the intestine and relieves symptoms of dehydration faster than “Rehydron” in children with acute intestinal infection.

A steady increase in the number of young sportsmen predetermines the relevance of studying the nature and severity of cardiovascular system remodeling in young athletes, including the development of arterial hypertension (AH) and left ventricular myocardial hypertrophy (LVHM).

Objective. To study the prevalence and nature of arterial hypertension (AH) and its associations with signs of cardiovascular remodeling in young athletes taking into account pathogenetic relationship and genetic determination.

Characteristics of children and methods. The study included 80 young athletes (including 42 boys, average age 14,5±1,54 years), divided into 4 groups depending on the kind of sports (1 – cyclic, 2 – game, 3 – complex coordination, 4 – power). We used the following research methods: “office” (i.e. during visit to the doctor) measurement of blood pressure, electrocardiography, echocardiography, color Doppler scanning of the neck vessels, daily monitoring of blood pressure, bicycle ergometry, genetic testing using the original panel with 448 markers.

Results. An increase in blood pressure at rest was detected in 2,5% of children engaged in power sports, an insufficient decrease at night – in 16,3% of children, and an excessive reaction of blood pressure to dosed physical activity – in 25% of children. These changes correlated with signs of sports remodeling, in particular with the formation of left ventricular myocardial hypertrophy, which was diagnosed in 7–12,5% of athletes. According to the results of genetic testing, pronounced polymorphism in the NO synthase gene at three loci (rs10918594, rs12143842, rs16847548) was associated with a reorganization of the cardiovascular system in 45% of athletes.

Conclusion. Violation of the circadian profile of blood pressure and excessive reaction to physical activity demonstrate 7,5–25% of young athletes, especially those involved in complex coordination and power sports. These changes were associated with the severity of sports remodeling and determined by a genetic predisposition.

The objective of our study was to improve the diagnosis of maxillofacial lesions in children with juvenile scleroderma. We performed a dental examination of 41 children from 4 to 17 years old with juvenile scleroderma. Based on the clinical X-ray examination we identified the main diagnostic signs of the maxillofacial damage in children with juvenile scleroderma, including partial hemiatrophy, plaque or linear facial lesions, reduced salivation, atrophic glossitis, plaque spots of mucous tongue atrophy, ischemia or shortening of the sublingual bridle, local recession of the gums of the lower jaw, dystopia and tooth supraposition, disocclusion, delay teething, spontaneous resorption of the permanent teeth roots, one-sided delay in the development of jaw bones. Using this complex of symptoms a dentist at the first visit can pre-diagnose scleroderma, which is especially important for the selection of adequate methods of treatment and prevention.

In recent decades, the Russian Federation has seen an increase in the incidence of the population, including children and adolescents.

Objective: to identify trends in the incidence and “to chronize” the pathology of young men in the Russian Federation. Using the method of descriptive statistics, the authors analyzed the overall and for the first time recorded incidence in 15–17-year-old men in 2000–2017. The authors noted a 35,8% increase in the overall incidence rate and a 35,4% increase in the for the first time recorded incidence rate. The maximum increase in the overall incidence is observed in the following classes: neoplasms (2,6 times), blood and bloodforming organs diseases (2 times), congenital anomalies (malformations; 1,8 times), circulatory system diseases (1,7 times), the musculoskeletal system and connective tissue diseases (1,6 times), endocrine and metabolic disorders (1,5 times). Based on theoverall and for the first time registered incidence the authors calculated the “chronicity” of diseases. With a general growth rate of this indicator of 0,3% there is a significant growth of this indicator for certain diseases: mental disorders and behavioral disorders (2,1 times), congenital anomalies (malformations; 1,9 times), endocrine system diseases, metabolic disorders (1,5 times).

Pyruvate dehydrogenase deficiency is a rare mitochondrial disease characterized by a wide range of neurometabolic manifestations. The disease is caused by insuffici ency of this multienzyme complex, which ensures the integration of pyruvate (the carbohydrate metabolism product) into the cellular energy metabolism. This complex deficiency is mostly caused by the mutations in the E1 alpha subunit-encoding PDHA1 (Xp22.1) gene. The article presents a clinical case of a boy with pyruvate dehydrogenase deficiency. The patient was diagnosed on the basis of a combination of clinical, laboratory and instrumental data: retardation in physical and psychomotor development, diffuse muscle hypotension, lactic acidosis, neurological manifestations, thalamus signal changes (according to magnetic resonance imaging of the brain), hemizygous mutations of the 12th exon of the PDHA1 gene during exomic DNA sequencing. We observed positive dynamics against metabolic therapy. The authors emphasize the importance of the timely diagnostics and initiation of metabolic therapy. Late diagnostics causes irreversible complications and significantly worsens the quality of patient’s life

Tuberous sclerosis is one of the genetically determined neurodermal syndromes, characterized by focal epilepsy, which is resistant to drug therapy in most cases. Tuberous sclerosis has not been surgically treated for a long time due to the multifocal nature of brain damage. However, using new instrumental methods the surgeon can isolate tuber – “drivers”, responsible for epileptic induction, which, therefore, can be a target for surgical removal. The article presents a clinical case of the treatment of pharmacoresistant epilepsy in a 17-year-old girl with tuberous sclerosis and normal neuropsychiatric and cognitive status; the surgeon managed to achieve a complete regression of seizures after the surgical removal of one of the tubers. Using a multimodal complex of examinations, including high-resolution magnetic resonance imaging and invasive electroencephalographic monitoring, the surgeon managed to identify the “inductor” tuber associated with the epileptic initiation zone among multiple cortical tubers. This section of the cerebral cortex was subjected to surgical resection. For the entire postoperative period (16 months) there were no seizures and antiepileptic drugs were canceled; cognitive processes, memory were improved. Thus, active surgical tactics may be effective in more than 50% of patients with tuberous sclerosis and pharmacoresistant epilepsy. This case confirms the need for a multidisciplinary examination prior to the surgery in patients with tuberous sclerosis.

The authors analyzed the Russian legislation, scientific literature and law enforcement practice on the nursing of newborns with extremely low body weight. They used the normative legal acts, scientific articles and court decisions on this topic. There were identified the problems of legal regulation of medical care to newborns with extremely low body weight, as well as the facts of infringement of the rights of doctors in cases of mortality of such children. The authors concluded that the legal regulation of medical care for children with extremely low body weight requires further improvement, careful analysis by medical specialists, since from a legal point of view there is no balance between the interests of children born with extremely low body weight, their parents and doctors.

X-linked adrenoleukodystrophy is a severe progressive neurological disease that is predominantly found in male patients and caused by mutations in the X-linked ABCD1 gene encoding peroxisome transport protein. The disease is clinically characterized by two main phenotypes: the most severe infant cerebral form and adrenomyeloneuropathy. The disease is treated by allogeneic transplantation of hematopoietic cells from a healthy donor to stop progression, and gene therapy with a self-activating lentiviral vector, the carrier of the functional gene ABCD1. Each method has its own limitations. The authors present and theoretically substantiate an alternative approach to the treatment of adrenoleukodystrophy; they propose to modify the autologous CD34+ cells from the patient using genomic editing, in order to replace the mutant DNA sequence of ABCD1 gene with a wild-type sequence, while replacing the mutant protein in the edited cells. The edited autologous CD34+ cells can be introduced by their transplantation into the bone marrow or by a series of repeated intravenous infusions. This method will allow avoiding both the search for a donor and the graft-versus-host reaction

Alagill syndrome is a rare genetic disease with an autosomal dominant type of inheritance, which is characterized by chronic intrahepatic cholestasis due to an abnormality of the biliary tree in combination with multiple malformations. It presents certain difficulties in diagnosing little children, when it is necessary to accurately determine the cause of cholestasis and the tactics of further treatment.

Objective. To analyze clinical manifestations and laboratory parameters in children with Alagill syndrome.

Characteristics of children and research methods. The authors carried out a retrospective continuous analysis of the clinical and diagnostic manifestations of Alagill syndrome in 21 children (10 boys and 11 girls) aged from 1 month to 14 years 5 months (average age 5 years ± 1 year). They studied their history of life and illness, assessed the course of pregnancy, first clinical manifestations of the disease, the results of clinical and diagnostic tests at the beginning of the disease and the analyses conducted at the place of residence and during the first hospitalization. All children underwent ultrasound examination of the abdomen and biochemical blood test.

Results. When analyzing clinical and diagnostic criteria of children with Alagille syndrome we found the following diagnostically important criteria: the threat of termination of pregnancy in mothers, fetal hypotrophy, prolonged neonatal period of jaundice, which may further persist and be accompanied by hepato / hepatosplenomegaly (more common for children above 3 months old), hypo-/ acholic stool, which occasionally occur in 3-month-old children, coagulopathy, more characteristic of children under 3 months old, as well as changes in biochemical blood parameters: the cytolytic activity – 2–5 times above the limits, hyperbilirubinemia (with a predominance of direct bilirubin fraction) – 3–7 times above the limits, gamma glutamyl – 2–7 times above the limits.

Conclusion. Alagill syndrome should be diagnosed as early as possible to determine further treatment tactics. A detailed history, analysis of clinical and diagnostic manifestations of the disease, especially changes in biochemical blood tests are important for the diagnostics of this disease.

Introduction. Neonatal seizures are the most common pathological neurological symptom of the neonatal period, requiring immediate treatment. There are 2 directions in the treatment of seizures: relief of acute life-threatening seizures and supportive antiepileptic therapy of the chronic process. Worldwide phenobarbital is still the first-line medication for neonatal seizures. However, due to contraindications the doctors have to select and prescribe other antiepileptic therapy for both stopping seizures and supportive therapy.

Objective. To introduce an algorithm for standardized phased treatment of neonatal seizures from stopping an acute debut to starting supportive chronic therapy according to clinical and electroencephalographic indications.

Characteristics of children and research methods. The authors retrospectively analyzed 449 patients born in 2016 – 2017. The inclusion criteria: full-term term newborns with clinical and/or encephalographic verification of seizures in the neonatal period. The authors studied the time distribution parameters of the primary realization of seizures from the time of birth, the genesis of convulsive activity, the effectiveness of antiepileptic therapy.

Results. Out of 449 treated children (full-term infants with somatic, surgical and cardiosurgical pathologies) 36 (8.0%) patients had neonatal seizures, 35 (97.33%) children of them had symptomatic seizures. Neonatal genetic epilepsy was diagnosed in 1 (2.77%) child (Otahar syndrome). The investigators revealed the prevalence of the primary realization of convulsive syndrome in newborns in the first 4 days of life. Occasionally the initial debut of seizures occurred in children older than 7 days with congenital metabolic disorders, represented by aminoaciduria. The seizures were stopped without anticonvulsants (correction of transient metabolic disorders – hypoglycemia, hypocalcemia) in 3 (8.33%) children, with phenobarbital monotherapy in 5 (13.89%) children, diazepam monotherapy in 4 (11.11%) children, monotherapy with sodium thiopental – in 5 children (13.89%), valproic acid preparations – in 8 (22.22%) children, a combination of first and second line drugs (sodium thiopental + diazepam; sodium thiopental + phenobrobital) – in 11 ( 30.56%) children. Supportive antiepileptic therapy was carried out using phenobarbital monotherapy in 16 (44.44%) children, valproic acid preparations in 7 (19.44%) children, levetiracetam in 4 (11.12%) children, oxcarbazepine in 2 (5.56 %) children; 7 (19.44%) children were discharged without supportive antiepileptic therapy.

Conclusion. Currently anticonvulsant monotherapy is effective in less than 50% of neonatal seizures cases; phenobarbital or diazepam remain the first-line medications. 1/3 of the patients require a combination of antiepileptic therapy. It is of great importance to diagnose and correct transient metabolic disorders before the prescription of anticonvulsant therapy.

The health basis and correct lifestyle habits, including proper nutrition, are formed in the childhood and adolescence. An excess or deficiency of certain nutrients can cause chronic forms of alimentary-dependent pathology. Childhood obesity results in both short-term and long-term unfavorable effects on physical and psychosocial health. The article presents modern ideas about the pathogenesis of the metabolic syndrome in children and adolescents, diagnostic, prevention and treatment methods.

The article presents modern approaches to the modulation of cellular factors of innate immunity, oxidative stress factors when using a hypertonic seawater solution with Ascophillum nodosum brown algae extract (NaCl 15 g/l) in patients with acute rhinosinusitis.

Characteristics of the children and research methods. The authors examined 102 children aged from 5 to 8 years, with a history of more than 5 episodes of acute rhinosinusitis per year. We evaluated the quantitative and qualitative composition of neutrophilic granulocytes in washes from the mucous membrane of the nasal cavity, the production of reactive oxygen species (ROS) by neutrophilic granulocytes, the content of lipid peroxidation products, enzymes of the antioxidant system – superoxide dismutase and catalase in nasal washes.

Results. The authors found that the nasal spray of a hypertonic seawater solution with Ascophillum nodosum brown algae extract helps to normalize clinical picture, reduce number of relapses, restore functional and metabolic status of neutrophils of the nasal mucosa surface, restore balance of lipid peroxidation factors, antioxidant sustem enzymes – superoxide dismutase and catalase.