The article is devoted to the issue of transitional states in child psychoneurology, based on the general concept of a continuum of transitional states from normal variants to severe chronic diseases. The article discusses borderline psychoneurology disorders associated with mitochondrial dysfunction and various genetic defects. A significant passage is devoted to convulsive states and epilepsy. The autism spectrum analyzed both as a aggregate of nosologies and in combination with epilepsy. The author proposes the concept of quasicontinuum of cognitive development in the spectrum of child autism. There are presented the transitions of various forms of hysteria. Also the authors provide the data on the similar etiology of impaired coordination and cerebral palsy, which can be considered as a single continual process. As possible methods of dividing the continuum into separate forms there are works on the so-called signal features and a dynamics model for estimating time limits of transition states, also the operators to determine the value of factors characterizing transition states, are presented.

The article describes ethical, social, psychological and medical problems in the families raising children with rare diseases. It is quite difficult to diagnose a rare disease. It leads to financial deprivation of the family, social isolation and marginalization. Patient organizations play a large role in public awareness of rare diseases. It is of crucial importance to make treatment accessible, to provide qualified medical care, social support of families, to improve cooperation between research centers, medical institutions and patients.

Acute respiratory viral infections (ARVI) are the most common diseases among children. The typical and most disturbing symptoms of ARVI are nasal discharge, nasal congestion and difficulty in nasal breathing. Local protective factors of the respiratory mucosa (epithelial barrier, mucociliary clearance, antimicrobial peptides, immunoglobulin A, microbiota) prevent the penetration of respiratory infections. To prevent ARVI in children it is important to maintain the physiological state of the mucous membrane. ARVI treatment in children is based on care and supportive activities. By irrigating nasal cavity with saline one removes mucus, mechanical impurities, stimulates mucociliary clearance, reduces swelling of the mucous membrane and need for decongestants. The new nasal spray Aqualor Protect contains 45% of sea water with a slightly hypertonic concentration of salts (1.5%) and Ascophillum nodosum brown algae extract. The main polysaccharides of brown algae - fucoidan and ascofillan - have a wide range of biological actions, including anti-inflammatory and antiviral properties. The extract of brown algae added to saline helps to increase the effectiveness of irrigation therapy in the treatment and prevention of acute respiratory viral infections in children.

The article reviews literature devoted to the glucose transporter type I deficiency syndrome (synonyms: GLUT1 deficiency syndrome, de Vivo disease), that is a genetically determined disease caused by pathogenic variants of the SLC2A1 gene. The insufficiency of this protein leads to the disruption of glucose delivery to the brain through the blood-brain barrier. Clinically, the syndrome is manifested by epileptic seizures (mainly as absences or myoclonic seizures), various motor disorders and psychomotor retardation starting from the early age.

Early diagnosis (including molecular genetic analysis of the SLC2A1 gene) enables us to start treatment and prevent progression of the symptoms, and to provide the family with genetic consultation on the prognosis and risks for the next generations. Ketogenic diet is an effective treatment option for this pathological condition, it can lead to a regression of the clinical manifestations, especially on the early stage.

The article describes the transplantation of hematopoietic stem cells (HSC) in children with severe form of mucopolysaccharidosis type I – Hurler syndrome. This method is recommended for the patients under 2.5 years with a high rate of psychomotor development. According to clinical guidelines, HSC is performed according to traditional high-dose, chemotherapy-based conditioning regimens which provide intense immunosuppression to prevent graft rejection. Currently, it is recommended to use a reduced-intensity conditioning mode. An international multicenter study assessed the long-term outcome in patients with Hurler syndrome and confirmed improvements in life quality and expectancy.

Purpose: to analyze the structure of hereditary pathology and the results of genetic studies in children in a specialized clinic.

Results.1045 children from 79 regions of the Russian Federation were examined and treated in the pediatric department of congenital and hereditary diseases in 2018. There were 25% of patients from Moscow and Moscow region and 75% from other territories. After examination all patients were divided into 2 large cohorts: patients with hereditary diseases diagnosed by clinical and laboratory data (737 children; 70%) and patients with undifferentiated pathological conditions with unclear genesis at the time of discharge from the hospital (308 children; 30%). In the cohort of hereditary diseases there were the most numerous (about 100 children in each) groups of patients with Ehlers–Danlos syndrome, imperfect osteogenesis and rare heterogeneous genetic syndromes. The groups of rickets- like diseases, chromosomal syndromes and Rett syndrome included 50-70 patients. Other groups were smaller. Half of the hospitalized patients required genetic analysis. The highest percentage of molecular genetically / cytogenetically confirmed diagnoses was found in the groups of chromosomal diseases, rare genetic syndromes of lysosomal and mitochondrial diseases, Rett syndrome, and aminoacidopathy. It is worth mentioning that a primary diagnosis was not established during a genetic study in 57 children (18%) children from the general cohort of patients with hereditary diseases, so the researchers used other methods of analysis or bioinformatic revision of the results.

Conclusion: The authors found a large variety of genetic diseases in children requiring examination and treatment in a specialized hospital. 1/5 of the examined children require additional genetic testing or repeated bioinformatic interpretation of the data.

The risk of preterm labor is one of the leading complications of gestation which determines the high level of perinatal morbidity and mortality. Receptor for advanced glycation end product RAGE is considered to be an important participant of congenital and adaptive immunity and it can regulate the production of pro-inflammatory cytokines and chemokines. TNFa is a leading pro-inflammatory cytokine, it is produced in response to endotoxin. TGFß1 is the main mediator providing anti-inflammatory effect.

Purpose. To identify the features of the health status of newborns after the threat of termination of pregnancy in 22–27 weeks, the content of sRAGE and cytokines in women at risk of preterm labor depending on perinatal pathology in children.

Materials and methods. We examined 120 pregnant women at 22–27 weeks of gestation, they were divided into 2 groups: the main group (80 women at risk of preterm labor) and the control group (40 women with uncomplicated pregnancy). We determined the content of sRAGE, TGFβ1 и TNFα cytokines, and antibodies to Chlamydia trachomatis, Mycoplasma hominis и Ureaplasma urealyticum, simple herpes virus, cytomegalovirus, the virus of Epstein–Barr in the venous blood serum by ELISA.

Results. The threat of preterm labor at 22–27 weeks increases the risk of perinatal hypoxic lesions of the CNS in newborn 1,5 times (relative risk (RR) 1.43; 95% confidence interval – CI 1.14–1.78). A premature birth, after the threat of preterm labor at 22–27 weeks, increases the risk of perinatal damage to the CNS more than five times (RR 5.13; 95% CI 2.47–10,69), and the risk of intrauterine infection is increased four times (RR 4.08; 95% CI 2.54–6.54). Low content of sRAGE in patients with threat of premature labor at 22–27 weeks is a predictor of development of perinatal hypoxic lesions of the CNS.

Conclusion. Low content of sRAGE in the blood serum of patients at risk of premature labor at 22–27 weeks is a predictor of development of perinatal hypoxic lesions of the CNS. A decreased concentration of TGFβ1 cytokine in the blood of women at risk of premature birth is associated with intrauterine infection in newborns.

This article analyzes the neurosonography results and compares with neurological symptoms in premature infants with very low and extremely low birth weight. The authors retrospectively assessed the cranial ultrasound results from neonatal intensive care units and outpatient hospitals. Group 1: monthly cranial ultrasound despite of clinical symptoms and psychomotor development; Group 2: only according to indications - in case of deterioration of neurological status or a decrease in the psychomotor skills development. The neurological outcome was compared with intracranial lesions identified in the neonatal period (intraventricular hemorrhage, periventricular leukomalacia etc.). It was found that continuous ultrasound monitoring was not required in the absence of clinical and laboratory signs of neurological distress, since the results of the study, including deviation from the norm, did not affect the treatment tactics. Only presence of clinical symptoms required treatment.

Purpose. To assess frequency and severity of myocardial damage in premature infants with transient myocardial ischemia in the early neonatal period.

Materials and methods. The study includes 73 newborns of a gestational age of 31–36 weeks with respiratory failure and oxygen dependence in the first 2 hours of life. Newborns are divided into groups: Group 1: classic electrocardiographic criteria of transient myocardial ischemia and an increase in the level of troponin I in the blood; Group 2: electrocardiographic criteria for transient myocardial ischemia and a normal level of troponin I; Group 3: no ECG changes and normal troponin I level. We assessed blood gases, conducted electrocardiography, determined troponin I in the blood on the 1st and 7th day of life, assesses duration of oxygen therapy in all the children.

Results. Group I: troponin I concentration on the 7th day of life – 0.415 [0.222; 0.639] ng/ml, Group II – 0.073 [0.051; 0.104] ng/ml and Group III – 0.017 [0.006; 0.051] ng/ml. Transient myocardial ischemia was detected in 41% of examined patients, and destructive myocardial changes – in 21.9%. An analysis of the gas composition of blood in the first 2 hours demonstrated that there was a significant predominance of the level of bases in the children of Group I. The duration of artificial ventilation in children of Group I was 56 [3; 96] hours, exceeding the indicators of children of Group II (9 [8; 11]) by 5 times, and Group III (20.5 [13; 72]) – by 2.5 times. Also newborns in Group I experienced a maximum need for oxygen therapy through a mask.

Conclusion. 21.9% of premature infants experience destructive myocardial changes against the background of transient myocardial ischemia; newborns with transient myocardial ischemia and destructive changes have a significantly more pronounced metabolic acidosis in the first hours of life and a longer need for oxygen therapy.

We studied the activity of fecal elastase in 54 premature newborns of a gestation period of 22–32 weeks. The samples of feces were collected at the age of 13–14 days. Premature children born at gestational age of 22–28 weeks had pancreatic insufficiency of light degree by 2 weeks of age, preterm infants with a gestational age of 28–32 weeks by 2 weeks of age had the values of pancreatic elastase equal to that of full-term children. The authors have established the relationship between the degree of pancreatic insufficiency and the gestational age of newborns. Fecal elastase activity was significantly lower in premature infants who received milk mixtures as compared to breast-fed infants or infants with mixed feeding. The study substantiated the necessity of early replacement therapy in such newborns to prevent exocrine pancreatic insufficiency.

In recent years, an increase in the frequency of multiple pregnancies has been observed worldwide, which is primarily associated with the widespread use of assisted reproductive technology for the treatment of infertility. Pregnancy resulting from in vitro fertilization is a high-risk group. In the world scientific literature there are practically no works on the study of auditory function in children from multiple pregnancy. As for the studies of the auditory function of children from multiple pregnancies, such works are practically absent in the literature. The article presents the results of an audiological examination of 204 children from twins, 94 of which were born as a result of using assisted reproductive technologies, and 110 from a spontaneous multiple pregnancy. According to an audiological survey using the method of otoacoustic emission at the frequency of product distortion in the expected period of labor, we have proven that the conception method (spontaneous or induced) does not affect the maturation of the auditory function in children from twins: registration of the distortion product otoacoustic emissions (DPOAE) test is 56,1 and 54,4% of cases, respectively. The auditory function of each child from one twin must be considered individually.

The article presents the results of a study of the associations of NO synthase and arginase genes in children with bronchial asthma with clinical, laboratory and functional parameters depending on the level of nitrogen oxide in exhaled air (FeNO). We examined 107 children with bronchial asthma, they were divided into 2 groups depending on the level of FeNO. We found a number of associations in the group of patients with an elevated level of FeNO (≥20 ppb): carriage of alleles and genotypes containing short tandem repeats of S (9–11) NOS1(AAT)n gene, with an early debut and severe course of the disease, an increased level of total IgE in blood serum; carriage of alleles and genotypes containing long tandem repeats L (12–16) of the NOS2A(CCTTT) n gene, with a moderate course of the disease, with an increased level of IgE; carriage of the allele *A of the ARGII gene (rs3742879) with a moderate course of the disease; carriage of the *G allele and heterozygous *AG genotype of the ARGII gene (rs3742879) with a decreased level of FEV1/FVC; carriage of L alleles and a combination of the SL and LL genotypes of the NOS1(AAT)n gene with elevated blood eosinophils (eosinophilia); a combination of S/L + L/L genotypes of the NOS1(AAT)n gene with fungal sensitization. The authors established the correlations between disease severity and NOS1(AAT)n; the age of the manifestation of the disease and NOS1(AAT)n; FEV1/FVC and ARGII (rs3742879); feedback between blood eosinophilia and NOS1(AAT)n. The authors also determined a number of associations in the group of patients with low level of FeNO (<20 ppb): carriage of alleles and genotypes containing short tandem repeats of S (9–11) gene NOS1(AAT)n, with fungal sensitization; carriage of alleles and genotypes containing long tandem repeats of L (12–16) gene NOS2A(CCTTT)n, with reduced FEV1 and FEV1/FVC; carriage of the homozygous genotype of *GG gene ARGII(rs3742879) with epidermal sensitization. With a reduced level of FeNO, the study determined a relationship between the severity of bronchial asthma and NOS1(AAT)n; degree of effectiveness of anti-inflammatory basic therapy and NOS1(AAT)n; fungal sensitization and NOS1(AAT)n; feedback between FEV1 and NOS2(CCTTT)n; FEV1/FVC and NOS2(CCTTT)n.

Hereditary metabolic disorders include a group of diseases (more than 400) when a defect of a particular gene changes the metabolic process leading either to the accumulation of unwanted metabolites, or to a deficiency of a substance. This group also includes hereditary tyrosinemia type 1, a severe defect of tyrosine metabolism caused by deficiency of fumarylacetoacetate hydrolase (FAH) – the last enzyme of tyrosine catabolic pathway. Tyrosinemia type 1 is an autosomal recessive disorder. This paper presents a review of literature on the current state of diagnosticis and approaches to treatment of tyrosinemia using nitisinone and a low-protein diet, as well as the analysis of clinical manifestations and laboratory diagnostics of hereditary tyrosinemia type 1 in 17 children.

According to the literature, signs of mitochondrial dysfunction are found in 15–20% of children in the population. It often accompanies physical illness. The digestive tract is an energy-intensive system of organs, so violations of energy metabolism affect its functioning. The aim of this study was to determine the basal level of carnitine and its fractions in children with connective tissue dysplasia and chronic gastroduodenitis and to evaluate their dynamics after L-carnitine therapy. 77 children with this somatic pathology were examined. Depending on the presence of connective tissue dysplasia, they were divided into 2 groups – the main and the comparison group. Blood levels of total and bound carnitine were determined in all patients using liquid tandem chromatomass-spectrometry. Free carnitine was calculated as the difference between total and bound. It was found that in children with connective tissue dysplasia basal levels of total carnitine and its fractions are significantly lower than in patients of the comparison group. Carnitine and fractions increased in all children after a 30-day course of therapy with L-carnitine, reaching normal values with a reduced basal level. The degree of increase in indicators was greater in patients with initially lower levels, which was observed primarily in a group with connective tissue dysplasia. This study showed that connective tissue dysplasia in most cases is accompanied by mitochondrial dysfunction. Most patients with connective tissue dysplasia and chronic gastroduodenitis require correction of energy metabolism disorders using energy-stimulating therapy.

Acute otitis media is one of the urgent problems of pediatric otolaryngology. Its relevance is predetermined by the wide spread of the disease, especially among young children, the frequency of prescribing antibiotic therapy and the potential threat of severe complications. Pneumococcus is the most frequent causative agent of acute otitis media. Having introduced pneumococcal vaccination the incidence of acute otitis media has significantly decreased in many countries. The aim of the study was a retrospective analysis of the incidence of acute otitis media according to the Rostov ENT clinic for the period from 2012 to 2018. There is a significant annual increase in the number of children with moderate and severe forms of the disease. In 2018 the proportion of children under 3 years hospitalized with acute otitis media tended to reduce, that fact cannot be regarded as a result of vaccination, since the incidence of acute otitis media is subject to significant spontaneous fluctuations and depends on the epidemiological characteristics of viral respiratory infections.

Computer stabilometry is a modern highly informative method for the functional diagnostics of the motor pathology, which had age restrictions (for children over 2 years). Purpose: to develop new methods for diagnosing motor development disorders and the formation of cerebral palsy in children in the first six months of life based on a quantitative assessment of the ability to maintain the first antigravity postures. The authors presented their own technique of computer stabilometry in children of six months old in a supine position with support on the forearm or palm on a stable platform with high sensitivity for low weight. They demonstrate the results of the analysis of stabilometric indicators in children of 3–6 months of age with motor disorders compared with healthy children. The article describes new methods for diagnosing motor development disorders and the formation of cerebral palsy in children of six month old using the indicators of computer stabilometry. The developed methods are characterized by high diagnostic significance.

Diabetes insipidus is rare in newborn. There are two types of this disease: central and nephrogenic diabetes insipidus. A Palestinian infant was born at Shifa Women`s Hospital at full term by urgent cesarean section. At the age of 13 days he had fever, hypernatremia, polyuria, weight loss and low specific gravity of urine. The baby was diagnosed to have diabetes insipidus. The baby was successfully treated by fluid loss recovery by bottle feeding and intravenous 5% dextrose and sodium chloride solution. At home, they continued to correct fluid loss by bottle- feeding and drinking water.

Wolf – Hirschhorn syndrome is a rare genetic disease caused by the deletion of the end of the short arm of the 4th chromosome; it is manifested by numerous congenital malformations, delayed physical and psychomotor development. The article describes clinical experience of managing a patient with Wolff – Hirschhorn syndrome born to exposed parents who lived in a territory contaminated with radionuclides after the Chernobyl accident. The article describes pathogenetic aspects of the development of the disease and the need for timely diagnostics.

Сongenital adrenal hyperplasia (CAH) – is one of the versions of inherited enzymopathy. If it was dedected too late, that can lead not only to some fatal consequences, but to patient’s death as well. Neonatal screening of CAH allows to detect the desease promtly and start an immediate therapy in order to prevent difficult complications of the desease and patient’s disablement.

Aim: Analisys of the frequency of CAH case rate within children in the Republic of Tatarstan (RT) after neonatal screening and also prevalence rate of different clinic forms of empairments and types of gene CYP21A2’s mutations.

Methods: Reports of the results of CAH screening by medicogenetic service in RT were analysed. Information about children born, detected cases of CAH was taken from statistic form № 12 “Information on the number of diseases, detected within patient residing in the service area of medical organization, Rosstat” during 2006–2018yrs. Materials for analysis of health clinic of children’s CAH were case histories of patient, observed in endocrinology department of GAUZ “Republican children clinic hospital” Ministry of Health of The Republic of Tatarstan (DRKB MZ RT). Molecular-genetic researches were conducted on the basis of Federal state budgetary institution “National medical center for endocrinology” of the Russian ministry of Health. (FGBU “NMIC of endocrinology) of The Russian ministry of Health) with the support of “Alfa Endo” program CAF charity foundation.

Results: During 2007–2017 yrs. according to the results of neonatal screening 32 children with CAH were detected. The case rate ranged from 1:5054 to 1:56 598 newborn. The maximum of the disease case in RT was detected in 2016 (11 children). With 24 children molecular-genetic analysis was conducted, as a result 24 gene CYP21A2’s mutations were detected in homo- and heterozygotic state. The most widely spread mutation turned to be 12spl, which was found in 45,8% of cases.

Conclusion: Conducted analysis confirms the necessity of the further study of the CAH case rate distinctions in different areas and cities of RT, and also upgrade of the organization and performance of the neonatal screening.

Respiratory therapy is the main component of intensive care for premature newborns, it has a great influence on nursing outcomes.

Characteristics of children and research methods. The authors carried put a retrospective analysis of the intensive care effectiveness in 44 infants with extremely low body mass at birth.

Results. They found the cases of bronchopulmonary dysplasia and evaluated the treatment effectiveness depending on the weight and gestational age. The children with birth weight of 500–699 grams demonstrated low efficiency of intensive care and adverse course of bronchopulmonary dysplasia. This group of premature infants was characterized by a prolonged stay in the intensive care unit, mechanical ventilation, low body mass dynamics, and, as a result, had a high mortality rate in the late neonatal period compared to the group of children born with a birth weight of more than 700 g (p <0.05).

Conclusion. Effective nursing of preterm infants with a birth weight less than 700g requires a combination of an individual approach to the auxiliary ventilation methods and a non-invasive ventilation regimen along with pharmacotherapy that stimulates the respiratory center of the newborn and promotes the maturation of surfactant to prevent complications of respiratory therapy.

Purpose. To evaluate clinical and epidemiological features of neonatal sepsis and assess the impact of organ dysfunction on its outcome.

Characteristics of children and research methods. The authors carried out a retrospective analysis of 66 patients with neonatal sepsis hospitalized to the neonatal intensive care unit of the Kazan City Children’s Hospital No. 1 from 2013 to 2017. The diagnosis was based on the development of a systemic inflammatory response syndrome, an increase in C-reactive protein concentration in the blood more than 1 mg/dl, the presence of one or more foci of infection, the development of organ dysfunction and the isolation of the microorganism from venous blood. Bacteremia was a mandatory inclusion criterion.

Results. In the most cases (54.5%) neonatal sepsis was caused by gram-negative bacteria. 41 and 4.5% of cases were caused by gram-positive bacteria and fungi, respectively. Among the gram-negative bacteria, the main causative agents of sepsis were Klebsiella pneumoniae (27 cases, 41%), among the gram-positive bacteria –staphylococci (24 cases, 36.5%). Fungal sepsis was caused by Candida kruzei (2 cases) and Candida albicans (1 case). In 11 (17%) cases there was a dysfunction of a single organ, in 31 (47%) cases – dysfunction of 2 organs and in 24 (36%) cases – dysfunction of more than 2 organs. The most common impairments were respiratory dysfunction (86%) and hemostatic disorders in the form of thrombocytopenia (58%). Neonatal sepsis was fatal in 11 (17%) cases. It was found that the multiple organ dysfunction was associated with a risk of death (odds ratio – OR = 29.3; 95% CI 3.4–249.7). Among the signs of organ dysfunction, coma (OR = 30.8; 95% CI 3.0–316.6), elevated blood lactate level of more than 5 mmol/l (OR = 22.1; 95% CI 3.5–139,6) and a low platelet count of less than 50 · 109/l (OR = 5; 95% CI 1.2–21.3) had the prognostic significance.

Conclusion. Modern neonatal sepsis has a diverse etiology with gram-negative bacteria as causative agents in half of the cases. Despite modern treatment methods, neonatal sepsis remains a formidable infectious pathology. The risk of fatal outcome is associated with organ dysfunction. Coma, elevated blood lactate level and severe thrombocytopenia are the most significant predictors of fatal outcome in neonatal sepsis.

Meningitis is characterized by the prevalence of severe forms and it is often accompanied by life-threatening syndromes.

Purpose. To determine the most informative clinical manifestations of meningitis in children in their first years of life to optimize early diagnosis and treatment.

Materials and methods. The authors carried out a retrospective analytical study involving 47 cases of children hospitalized to the Republican Clinical Hospital for Infectious Diseases in 2014–2016. Their diagnose was based on the acute onset of the disease, characteristic clinical symptoms and the results of lumbar puncture. The laboratory diagnostics included a standard set of examinations.

Results. Meningitis was diagnosed in 34 patients (72.3%), meningoencephalitis – in 13 patients (27.7%). 30 cases (63.8%) of meningitis / meningoencephalitis had a bacterial nature, and 9 cases (19.1%; p<0.01) had a viral nature. The most common bacterial pathogens of meningitis was Pneumococcus (10 cases), hemophilus bacillus (8). Str. agalactiae (6) and meningococcus (6). 38 (80.9%) patients had high febrile fever, 1005 of patients had weakness, drowsiness, changes in consciousness of varying severity, 29 patients (61.7%) had vomiting, 16 patients ( 34%) – headache, “brain” cry, 7 patients (15%) – hyperesthesia, a symptom of “mother’s hands”, 4 patients (8.5%) – forced posture, 34 patients (72.3%) had meningeal signs.

Conclusion. The most significant symptoms of early diagnosis of meningitis in children are high febrile fever combined with drowsiness and retardation, vomiting without diarrhea.

Lymphangioma is a benign neoplasm caused by a congenital malformation of the lymphatic vessels.

Purpose. To study the possibility of momentary radical removal of lymphangioma in children based on a prospective cohort study in parallel groups.

Characteristics of children and research methods. The article presents the results of treatment of 152 patients with lymphangioma, reported from the Department of Vascular Surgery of the Children’s Republican Clinical Hospital of Tatarstan. All patients were divided into 3 groups according to the applied method of treatment. The patients in Group 1 (n=95) underwent radical removal of lymphangioma, patients in Group 2 and Group 3 underwent partial removal followed by sclerotherapy of the residual cavity of the lymphangioma.

Results. The authors observed relapse in 17 (11.2%) cases, 11 of these cases were observed after previous operation of complete excision (Group 1). According to the study of the distribution of relapses, there was no difference between the groups.

Conclusion. Momentary radical excision of lymphangioma is implementable in 63.3% of cases. If it is impossible to remove lymphangioma completely they use partial excision and sclerotherapy of the residual cavity. The probability of relapse does not increase in case of impossibility to remove lymphangioma completely. Minimal invasive procedure is a priority of modern surgery, as it reduces surgical trauma, facilitates postoperative period and improves cosmetic result.

Malnutrition is a common problem in children with congenital heart defects, regardless of the type of defect and the presence / absence of cyanosis. Children born with heart defects form a high-risk group of nutritional deficiency. Surgical treatment of congenital heart defects is often accompanied by metabolic changes and increased needs of energy and protein. Correction of nutritional status in children with congenital heart diseases improves the condition of patients after cardiac surgery. The purpose of our study was to assess the nutritional status of children with congenital heart defects hospitalized to the cardiac surgery department, and to correct their enteral nutrition. The authors analyzed anthropometric data on the Z-score (weight – age) of children admitted to the department for examination and correction of heart disease. The authors concluded that there is need for further studies to assess the impact of changes in nutritional status on the incidence and mortality of patients with congenital heart defects and the possibility of optimal correction of nutritional status.

Systemic lupus erythematosus is an autoimmune disease characterized by a pronounced polymorphism of clinical manifestations. Lupus nephritis is the most severe manifestation of the disease. The article presents a retrospective analysis of the cases of systemic lupus erythematosus and assessment of the clinical manifestations of the disease and variants of lupus nephritis in children in the Republics of Belarus and Tatarstan. The authors analyzed 60 cases of systemic lupus erythematosus, lupus nephritis. All patients had at least 4 of the 11 diagnostic criteria proposed by the American College of rheumatology (ACR, 1997), and 35 patients had a morphologically verified nephritis. It was found that the disease in children developed very actively with fast multi-organ involvement and it required aggressive therapy with several immunosuppressive drugs. During follow-up, the percentage of patients with renal damage increased, so renal function should be controlled in all patients with systemic lupus erythematosus, especially with early onset. Lupus nephritis is combined with extrarenal manifestations and it is difficult to diagnose when it begins with kidney damage. The overall survival rate of children with systemic lupus erythematosus is closely related to the severity of renal manifestations. Lupus nephritis is a serious problem that requires early aggressive intervention and continuous maintenance therapy.

Children with cerebral palsy (CP) often develop nutritional disorders, their incidence reaches 80% (according to the literature data).

Purpose. To analyze the frequency of nutritional disorders and features of nutritional status in children with CP.

Characteristics of children and research methods. We studied the anthropometric indicators (weight, height, body mass index, triceps and subscapular skin fold thickness), physical development characteristics depending on the motor abilities of the child according to the Gross Motor Function Classification System scale and body composition by bioelectrical impedance.

Results. Nutritional status disorders were detected in 88.8% of patients, while the diagnostic was based on a reduced physical development in 55.5% of patients. 22.2% of patients had protein-energy deficiency of the first degree, 15.5% of patients had protein-energy deficiency of the second degree, 6.7% of patients had protein-energy deficiency of the third degree, 11.1% of patients suffered from overweight. Besides, nutritional disorders were diagnosed in 33.3% of patients with normal physical development, but with altered body composition, namely, with the imbalance of fat and lean body weight, the isolated increase of the percentage of fat mass, the decrease of active cellular and musculoskeletal weight. These patients also require nutritional correction.

Conclusion. These data confirm the dependence of physical development and body composition on the patient’s motor activity and demonstrate the need for complex comprehensive study of nutritional status in children with CP.

Purpose. To assess physical performance of children doing sports on the basis of carnitine exchange indicators.

Characteristics of children and research methods. The study involved 94 young athletes and 37 schoolchildren (Control Group). The researchers studied such indicators as free and bound carnitine, maximum oxygen consumption and body composition.

Results. The study noted positive reliable correlations between the level of absolute maximum oxygen consumption and the content of total and free carnitine in the blood. The data obtained may indicate greater aerobic performance in athletes with a high level of free carnitine in the blood, since its sufficient amount provides adequate cellular energy exchange.

Conclusion. Thus, studying the state of carnitine indicators and body composition, it is possible to predict physical performance of children and to prevent deterioration of health in children during intense physical exertion.

The authors presented f clinical and genetic description and analysis of a rare autosomal recessive neurodegenerative disease with an accumulation of iron in the brain, type 4. The disease began in adolescence and has a slowly progressive course. The diagnosis was confirmed by magnetic resonance imaging and molecular genetic analysis. The author found two compound heterozygous mutations in the C19оrf12 gene: in exon 3 (chr 19: 30193873C>T, rs515726205), leading to a substitution of the amino acid in the 69th position of the protein (p.Gly69Arg, NM_001031726.3), and the mutation in the 3rd exon (chr19: 30193806A>T) not described earlier, resulting in the replacement of the amino acid in 91 positions of the protein (p.Lеu91Gln, NM_001031726.3).

Meningococcal infection remains a socially significant disease due to a wide range of clinical manifestations, severe course with high mortality, reaching 40-80% for certain forms. In recent years we observe a change in the serogroup picture of meningococcal infection, in particular, an increase in the proportion of meningococcal serogroup W, characterized by polymorphism of clinical manifestations. The authors present two their own clinical observations of a generalized form of meningococcal infection with a severe course in adolescents caused by Neisseria meningitidis of W serogroup with fatal outcome. They describe the peculiarities of the cases, namely, inconsistency of the clinical picture at the beginning of the disease and post-mortem changes. The article describes heart damage in the form of focal purulent septic myocarditis and purulent foci of destruction in the brain stem, hemorrhagic infarction of the choroid plexus with hemotamponade of the lateral ventricles of the brain, the predominance of septicopia over septicemia. The revealed changes are likely to reflect clinical and morphological features of meningococcal infection caused by N. meningitidis of serogroup W.

Restrictive cardiomyopathy often results in chronic heart failure. Knowledge of family history and genetic examination are extremely important for the early diagnostics of a family restrictive cardiomyopathy and prescription of non-specific therapy. The article describes clinical case of familial restrictive cardiomyopathy with a burdened family history.

Congenital glycosylation disorders represent a group of genetically determined diseases which violate the synthesis and addition of glycans to glycoproteins and glycolipids, and also the synthesis of glycosylphosphatidyl inositol. The most common defects are the defects of protein N-glycosylation. Jaken syndrome, a congenital disorder of PMM2-CDG glycosylation, is the most commonly diagnosed type (about 800 cases worldwide). However, there are only a few descriptions of clinical cases in the Russian literature. The article presents a clinical observation of a child with this type of congenital glycosylation disorder due to a defect in phosphomannomtase 2 (PMM2 gene). The diagnose was based on the combination of clinical, laboratory and instrumental data: a characteristic phenotype, hyperinsulinism, delayed physical and psychomotor development, neurological manifestations, coagulopathy, liver damage, exudative enteropathy, abnormal forms of transferrin, PMM2 gene mutations associated with Jaken’s syndrome. For the first time the authors described positive clinical and laboratory dynamics due to the inclusion of D-mannose to the therapy for this type of congenital glycosylation disorder.

The article describes a clinical case of idiopathic fibrosing alveolitis – a rare antenatal disease of a newborn. The disease began with the clinical manifestations of transient tachypnea in a full-term child born in the operative way. Chest X-ray was used for dynamic control of lung tissue damage. Due to the absence of specific clinical symptoms of interstitial lung damage, the disease was considered as a course of congenital pneumonia. The researchers used antibacterial and symptomatic therapy. Despite treatment, the respiratory failure progressed, resulting in fatal outcome.

Subdural empyema is a rare but terrible complication of meningococcal meningitis in children, which can be fatal. The article describes a clinical case of meningococcal meningitis, complicated by subdural empyema and epiduritis, in a three-year-old child. The development of complications was manifested by a new wave of fever, bulging of a bregmatic fontanelle and an increase in the inflammatory markers in the blood, as well as the development of neutrophilic pleocytosis after normalization of the cellular composition of the cerebrospinal fluid. The child was diagnosed on the basis of magnetic resonance imaging of the brain and spinal cord. A longterm antibiotic therapy was effective, and the surgery was not required. The development of such complications should be assumed in all cases of a prolonged course of meningitis, accompanied by an increase in the level of inflammatory markers in the blood, even in the absence of the classic symptoms of subdural empyema.

The article describes two clinical cases of a rare children’s exanthemous disease – a unilateral laterothoracic exanthema associated with herpetic infections in a 4.5-year-old and 1.9-year-old children. These clinical cases are characterized by the spread of lesions on the body and the contralateral side, as well as the recurrent course of the disease.

Rapidly progressing glomerulonephritis in children is a rare but the most aggressive form of glomerulonephritis. This disease is clinically characterized by acute nephritic syndrome with rapidly progressive renal failure, morphologically it is characterized by the presence of extracapillary cellular or fibro-cellular crescent in more than 50% of glomeruli. Currently the literature describes only a few cases of clinical course of glomerulonephritis in children. The article presents the researchers’ observation of rapidly progressive glomerulonephritis type I (anti-BMC+) in a 12-year-old girl. Despite immunosuppressive therapy combined with plasmapheresis, the authors observed the progress of the disease resulting in chronic kidney disease stage V. The child received renal replacement therapy with peritoneal dialysis. The course was complicated by the development of severe hyperparathyroidism.

Primary Ciliary Dyskinesia is an orphane disease from the group of ciliopathies based on genetically determined defect in the structure of the motor cilia of the epithelium of the respiratory system and similar structures. Pathology belongs to the group of autosomal recessive phenotypes with pronounced genetic heterogeneity. It is clinically characterized by a progressive inflammatory lesion of all parts of the respiratory tract in children, a decrease in fertile function in older patients; defects of lateralization and malformations of organs are often observed. Despite a vivid clinical picture, the disease is not always timely diagnosed, which leads to a rapid decrease in pulmonary function, often to unnecessary surgical interventions. The purpose of this article is to familiarize a wide range of pediatricians and pulmonologists with modern methods of diagnostics and therapy of primary ciliary dyskinesia.

The purpose of the report is to acquaint obstetricians-gynecologists, neonatologists and pediatricians with the etiological and clinical manifestations, tactics and results of treatment for timely diagnosis and referral to an ophthalmologist. The article presents modern data on the etiology and clinical manifestations of congenital cataracts in children, the particularities of the development of the visual analyzer. The article substantiates the need for the removal of full forms of congenital cataracts in the sensitive period of the child’s development – in the first six months of life for high functional results. The authors note an important role of the pediatrician in the early detection of pathology and timely visit to ophthalmologist to determine treatment tactics.

The article presents current data on the features of the nutritional status of children with chronic nutritional disorders such as hypotrophy, paratrophy, etc. The authors describe the principles and timing of the complementary foods, as well as the advantages of a certain complementary feeding, depending on the type of nutritional disorder. Often, pediatricians pay close attention to the organization of nutrition of children in the first 12 months of life, as a more vulnerable period, while the age period of 12–36 months is also characterized by a significant growth rate and high demands in a number of micronutrients. The article provides recommendations on the nutritional prevention of alimentary-dependent conditions, as well as for a child with a “problematic” appetite (poor eater). It provides the approaches to the treatment of chronic nutritional disorders in children through the correction of eating behavior and diet therapy, including motivational training with the involvement of parents and family members.

The article is devoted to the analysis of classifications of congenital heart defects from a practical point of view. The researchers present their classification of congenital heart defects with the substantiation of optimal terms of surgical correction. The proposed classification allows us to predict possible critical hemodynamic conditions in children with heart defects both in the neonatal period and in other age groups. The classification creates the basis for choosing the treatment tactics of patients with congenital heart defects using the known stages of hemodynamic changes, it has been used by the cardiologists and cardiac surgeons in the Republic of Tatarstan for more than 15 years.

The complications of acute otitis media remain an unsolved problem in pediatrics, as they often lead to disability of children. The damage to the nervous system is the most dramatic complications of acute purulent otitis media. Neurological complications include both intracranial lesions of the central nervous system (meningitis, encephalitis, brain abscesses) and neuropathy of the cranial nerves. We presented clinical cases of various neurological complications of otitis media, analyzed diagnostic and therapeutic errors and showed the ways to solve this difficult problem.