Bronchopulmonary dysplasia is one of the most significant early childhood chronic respiratory diseases. The article features modern approaches to preventing, diagnosing and treating broncho-pulmonary dysplasia, as well as ways of preventing complications and undesirable disease outcomes in patients older than 3 years. Members of professional associations — Union of Pediatricians of Russia and Russian Association of Perinatal Medicine Specialists — have summarized the experience of managing this category of patients at leading Russian pediatric centers according to the principles of evidence-based medicine and have provided scientific and practical data corresponding to the world level of knowledge with regard to the present problem.

Background: The connection between vaccination and autoimmune diseases (and rheumatic pathology in particular) is still a subject of discussions. When discussing the possibility of vaccinating rheumatic patients we should take into account the ultra high dangers that infectious diseases pose for such patients, including those that can be prevented by vaccination. We should also take into account the experience of using various vaccine types in rheumatic patients, which illustrates of their high safety profile.

Objective: Our aim was to study the immunization schedule in children with juvenile idiopathic arthritis.

Methods: The evaluation of vaccine history and other anamnestic data in juvenile idiopathic arthritis patients was based on individual medical records (individual child’s card/preventive vaccination certificate), as well as questionnaires filled by mothers.

Results: It has been determined that a significant proportion of children with vaccination schedule deviations are juvenile idiopathic arthritis patients. Almost one in four children with a confirmed rheumatic diagnosis has not been immunized against the major vaccine-preventable diseases. In one non-vaccinated group, there was a case of juvenile arthritis onset after recovering from measles. A small number of patient mothers connects the manifestation of rheumatic diseases with vaccination.

Conclusion: Violations of vaccination status in JIA patients require corrections according to the results of clinical studies and the recommendations of international experts.

Background: Juvenile idiopathic arthritis (JIA) associated uveitis may be the cause of not only visual acuity decrement, but also blindness. At the same time, in some patients therapy with methotrexate can not prevent the development of these complications.

Objective: Our aim was to investigate the efficiency and safety of using a tumor necrosis factor inhibitor (adalimumab) in patients with JIA-associated uveitis.

Methods: We conducted a retrospective single-arm study of a series of cases. The results of using adalimumab were evaluated in patients with JIA-associated chronic anterior uveitis, who have been under observation for no less than 1 year before and after starting using adalimumab. The latter was prescribed due to progressing and/or recidivous methotrexate-resistant uveitis.

Results: We have analyzed clinical case records of 36 children with JIA-associated uveitis. At the start of therapy with adalimumab, actual uveitis was diagnosed in 30 (83%) patients. Remission was achieved in 29 of 30 cases in 2 (2; 12) weeks in patients with actual uveitis. 11 (31%) patients had a uveitis exacerbation 28 (13; 69) weeks after adalimumab therapy started. Adalimumab reduced the exacerbation frequency from 4 (1; 9) to 0 (0; 1) exacerbations per year for one patient (p < 0,001), and reduced the proportion of patients who were treated with topical glucocorticosteroids (from 83 to 8%). There were no differences (in achieving remission and reducing exacerbation frequency) with regard to patients’ sex, involvement of one or both eyes in the disease onset, antinuclear factor seropositiveness, uveitis type and character of joints affection.

Conclusion: Adalimumab promotes fast and long-lasting remission of JIA-associated methotrexate-resistant uveitis.

Background: Omalizumab is the first and yet the only biopreparation for asthma which combines high efficiency and high cost. The clinical-economic expediency of using omalizumab in asthmatic children has not been previously studied in Russia.

Objective: Our aim was to evaluate the clinical and economic expediency of using omalizumab as additive treatment (to basic or supporting therapy) in children with severe uncontrolled atopic asthma under the Russian economic conditions.

Methods: We conducted a mathematical simulation of asthma treatment in children with an increased frequency of hospitalization (9 times per year) with an average monthly omalizumab requirement of 558 mg. The model is based on the Markov chain. The model includes direct and non-direct costs. The planning horizons were 2 and 5 years. We analyzed the efficiency and utility of the costs and their influence on the budget. The stability of received data is proven by sensitivity analyzis.

Results: Over a 5-year planning horizon the cost of an additional year of quality life (due to using omalizumab) was 1,259,185 roubles, while the “society’s solvency” is 1 341 308 roubles (cost utility analizis). It takes 39,820 rubles to prevent one hospitalization with omalizumab over a 5-year planning horizon (cost efficiency analizis), which is comparable to the cost of hospitalization (43,141 rubles). Total costs for treating 100 children with asthma, 7 of which would be treated with omalizumab, were equal to the amount of money which is enough to treat 105 children without omalizumab (analysis of budgetary influence).

Conclusion: The analyses of cost efficiency and utility have shown that the strategy of using omalizumab together with standard treatment is economically expedient. Budgetary influence analysis has not detected a significant burden on the budget.

Background: Registers are an effective tool for tracing the dynamics of patients with rare pathologies.

Objective: Our aim was to examine the demographic, clinical and genetic features of child Gaucher disease patients in Russia.

Methods: We held a retrospective survey of the pediatric register data with regard to children suffering from Gaucher disease. The period of data accounting was from 2006 to 2016.

Results: 115 children with Gaucher disease aged from 3 months to 17 years (the median age of diagnosis is 5 years) were registered; 62 them (53.9%) are girls. The prevalence of the disease was 0.32 cases for 100,000 children. 95 (82.6%) children had 1st type of Gaucher disease, 6 (5.2%) — 2nd, and 1 (12.2%) — 3rd. Maximum morbidity was in Central (27; 23.5%) and Volga (27; 23.5%) Federal Districts; minimal — in the Far East (3; 2.6%). By the time of diagnosis all the patients were suffering from splengomegaly. The genotype and phenotype correlations in 90 children with Gaucher disease were as follows: in case of 1st type (n = 77), in 21 (27.3%) cases, the p.N370S/р.L444P genotype was set, in 12 (15.6%) — the р.N370S/other mutation; in case of 2nd and 3rd types, in 13 children with neuropathic forms, in 9 (62.9%) cases — the p.L444P/p.L444P, in 3 (231%) — the p.L444P/p. D409H. The rest of genotypes were presented by other mutations, 13 of which were revealed for the first time. The p.W223R (p.W184R) mutation is specific for Russian patients. Enzyme replacement therapy was carried out for 109 patients (94.8%): in 105 (96.3%) children (1st and 3rd types of Gaucher disease) with imiglucerase, in 4 (3.7%) children with 1st type — with velaglucerase alfa. Pathogenetic treatment stops the main symptoms in most patients.

Conclusion: The pediatric Gaucher disease register allows to systemize the data concerning the disease course in children and optimizing the approaches to its monitoring in Russia.

Background: Misbalance between energy intake and consumption is considered the main reason of obesity. However, over the recent years there has been a lot of emerging data concerning early origins of obesity that forms during intrauterine development and/or early age periods.

Objective: Our aim was to study how physically developed are the children of early school ages.

Methods: The study included children aged 7 to 10 years. Their physical development was assessed with the WHO AnthroPlus (2009) software.

Results: 652 children were examined. Of them, balanced development was found in: according to the WAZ index (body mass/age) — 466/530 (87,9%) schoolchildren; HAZ index (height/age) — 620/652 (95,1%); BAZ (body mass index/age) — only 438/652 (67,2%) children. Excessive body weight was found in 61 (18,8%) of the 324 girls and 65 (19,8%) of the 328 boys (р = 0,891), obesity — in 24 (7,4%) and 52 (15,9%) children correspondingly (р = 0,038).

Conclusion: Having evaluated the physical development of early aged schoolchildren between the ages of 7 and 10 years, it is possible to state that there is evidence in favour of higher readings of mass-weight indexes as compared to the standard WHO population. Every third early age schoolchild can have physical development deviations, at the same time boys are obese twice as often as girls.

The studying of various courses and outcomes of bronchopulmonary dysplasia is an important direction of modern pediatric research. Researchers of different profiles have an interest in the issue not only due to the recent publication of results obtained after 50-yearlong observations which occurred since the disease has been described for the first time, but also due to the successes of functional diagnostics and the improvements made in visualizing structural lesions in the lungs. The review describes the modern concepts concerning the course of bronchopulmonary dysplasia, as well as the factors affecting the disease outcomes.

We have conducted a critical analysis of publications regarding the possibilities of medicamental treatment of obstructive sleep apnoea syndrome in children. Based on the examined studies we made a conclusion that intranasal glucocorticosteroids and leukotriene receptor antagonists can be effective in children with light and moderate lesions of this nature. At the same time, for the time being there isn’t enough published data to justify the recommendation of mentioned preparations as an alternative to surgery in children suffering from pulmonary ventilation stoppages. Further studies are required in order to determine the optimal terms of conservative treatment of obstructive sleep apnea in children, to determine the durability of the effect and ascertain the indications and contraindications for different groups of preparations.

The article presents an overview of modern Russian and foreign scientific literature, which summarizes data on the value of normal intestinal microflora formation, and on the formation of normal microbiocenosis in ontogeny features. The causes of microbiota formation lesions and their impact on child health are described. Relevant data on the effectiveness of pre- and probiotics in the prophylaxis of noninfectious diseases is given.

Metabolic acidosis is the most common child acid-base balance disorder. This condition accompanies a variety of diseases, and the degree of its severity correlates with the patients’ survival: although not a separate disease in itself, metabolic acidosis, however, can worsen the disease course and even lead to death. The pathology causes are various (in connection with life-threatening changes in various organs and systems — lungs, heart and blood vessels, kidneys, and also due to a violation of lipid metabolism, in case of diabetes, poisoning, etc.), which determines the fact that a wide range of specialists are interested in the issue. Approaches to the diagnosis simplify the search for the etiology of metabolic acidosis. This study presents data on the physiological basis of acid-base balance regulation, and its etiology and pathophysiology; the principles of therapy are observed.

This article describes a case of successfully used tocilizumab (interleukin 6 receptors monoclonal antibodies) in a two-year patient with severe systemic juvenile idiopathic arthritis resistant to oral and parenteral glucocorticoids, nonsteroidal anti-inflammatory drugs, and methotrexate. Just after the first injection of tocilizumab, fever and pain ceased, morning stiffness decreased significantly; laboratory disease activity indices normalized by the 4th week of drug use; by the 16th week inflammatory changes in the joints regressed completely, the disease entered its inactive phase. After using tocilizumab, remission duration was 20 months for articular syndrome and systemic manifestations. No adverse reactions have been registered.

Peutz-Jeghers syndrome is a relatively rare autosomal-dominant inheritance type disease characterized by multiple hamartomas in the gastrointestinal tract. Treatment of such patients is traditionally surgical, but nowadays, due to the introduction of new methods of intraluminal endoscopy, it is often possible to avoid open abdominal operations, diagnose and remove the hamartomatous polyps in a minimally invasive way. The aim of this article is to demonstrate the diagnostic and surgical capabilities of modern intraluminal endoscopy for the treatment of patients with multiple hereditary gastrointestinal polyposis as shown on our own clinical observations. The technique of deep single balloon enteroscopy in conjunction with standard routine endoscopic manipulations allows to perform a total examination of the whole gastrointestinal tract and, if necessary, to remove almost all epithelial neoplasia, which certainly has a positive impact on the quality of the patient’s life.

The article presents an observation of one of the most common autoinflammatory syndromes — TRAPS (periodic syndrome associated with a mutation in the TNF α receptor gene). During a molecular-genetic examination of a 9-year-old child, a c.337_339del deletion in the heterozygous state of the TNFRSF1A gene exon 04, leading to a p.Glu113del amino acid deletion, was found. This mutation has not been described previously in TRAPS patients, and according to computer analysis (Alamut Visual) the issue is pathogenic. This observation indicates the presence of families with TRAPS in the Russian population, who can have «atypical» TNFRSF1A gene mutations. A successful use of monoclonal antibodies to interleukin 1 — canakinumab — in the patient is described. As a result, fever and abdominal syndromes have completely stopped, while knee joints pain decreased a day later. After a week of treatment, the child’s disease activity laboratory indices returned to normal (ESR, C-reactive protein). No exacerbations were fixed over the next 32 weeks. No adverse effects were registered during canakinumab therapy. Thus, canakinumab has demonstrated a high level of effectiveness and safety for the patient suffering from a periodic syndrome associated with a mutation in the TNF α  gene receptor. This indicates therapeutic use prospects for the interleukin 1 β blocker in TRAPS syndrome patients.

The article is devoted to allergen-specific immunotherapy (ASIT) — the only etiopathogenic therapy method for allergic diseases. By promoting the formation of immunological tolerance, ASIT modifies the course of the disease, prevents the occurrence of new or the worsening of existing sensitizations, thereby preventing the development of asthma, which is especially important for pediatric patients. The authors present the mechanism of action and its main features and conditions with regard to achieving the planned effect. Considered are the key contraindications to ASIT, the principles of selecting the appropriate allergen for the treatment and features of its introduction to both children with mono sensitization and children sensitive to the allergen group. Further prospects of research development and existing achievements of this medical technology are mentioned.