Cytomegalovirus infection (CMVI) in newborns and infants can occur in various clinical forms requiring a differentiated therapy. We present the peculiarities of two different variants of CMVI course generalized with a manifest clinical picture and characteristic shifts in laboratory analyzes in a child aged 2.5 months with a combined genetic pathology, and latent intrauterine in a child aged 5 days leading to the development of neurosensory hearing loss. The difficulties in diagnosing a suppressed (latent) form of the disease and choosing a therapeutic approach have been highlighted. A successful result of etiopathogenetic therapy with ganciclovir in a child with postnatal generalized CMVI has been presented. The therapeutic efficacy and safety of off-label ganciclovir preparations and anti-cytomegalovirus immunoglobulin have been confirmed. The advisability of including ganciclovir in the management protocol of children with latent forms of CMVI is discussed.

Mitochondrial respiratory chain complex V deficiency, type 2 is a rare hereditary disease developing due to mutations in TMEM70 (transmembrane protein 70) gene. Using massively parallel sequencing in patient with phenotype features, noncompaction of the left ventricular myocardium, and congenital heart disorder, we revealed mutations c.317-2A>G and c.578_579del in TMEM70 gene both in a heterozygous state. The mutations were confirmed by bi-directional automatic sequencing.

A growth of antibiotic-resistant Pseudomonas aeruginosa from patients with cystic fibrosis decreases a lung function significantly, which requires searching new, up-to-date antibiotics. Goal. An investigation of clinical and microbiological features of respiratory lesion and an assessment of elimination therapy at chronic P. aeruginosa infection in children on the example of the Regional Cystic Fibrosis Center. Materials and methods. A retrospective analysis of case histories of children at the Omsk Cystic Fibrosis Center (n=48) was performed, with evaluation of clinical and functional parameters depending on age and microbiological status of respiratory airways. The comparative evaluation of two drugs inhaled tobramycin Bramitob and Tobramycin-Gobbi efficiency was performed. Results. An association of microorganisms was identified from the majority of bacterial cultures of cystic fibrosis patients’ sputum (66.7%). Staphylococcus aureus (18.9%) and P. aeruginosa (16.6%) with the significant prevalence of non-mucoid forms were in the lead at the group of clinically relevant pathogens. From 2011 to 2016 amount of P. aeruginosa strains, which were sensitive to the all usable antibiotics, decreased, an especially significant decline of sensitivity was registered to amikacin (32.7%) and сiprofloxacin (48.6%). Children infected with P. aeruginosa had a lot more deviations of lung function measured by the computed bronchophonography and spirometry, they more often had changes in chest computed tomography than patients free of P. aeruginosa infection. Change from inhaled tobramycin Bramitob into inhaled tobramycin Tobramycin-Gobbi in the patients’ treatment didn’t lead to the elevation of respiratory syndrome exacerbation rates, didn’t increase requirement in the intravenous antibacterial treatment and didn’t influence to the rank of microbial colonization of sputum. Conclusion. In length of time, the increase of P. aeruginosa resistance to antipseudomonal antibiotics is observed, which makes reasonable the introduction high-concentrated forms of antibiotics. The replacement of inhaled tobramycin from Bramitob to Tobramycin-Gobbi didn’t cause the impairment of patients’ clinical and functional condition and didn’t change the microbiological status.

Background. The nutrition of children with phenylketonuria includes specialized starch-based products, the range of which is constantly expanding. Our aim was to study the safety of the composition of starchy flakes enriched with a complex of fat-soluble vitamins, natural fruit and berry additives used in the food of children with phenylketonuria. Methods. The study included children under the age of 14 years who were compliant with the previously conducted hypophenylalanine diet, without acute infectious, severe somatic or neurological diseases. The investigated products (starch-rye, wheat, and wheat fruit flakes with a complex of provitamin A and vitamin E) were prescribed instead of previously used low-protein confectionery products in the amount of 20–25 g/day for children under 6 years, 30–40 g — for children aged 6 years and over. The products were given with the recommendation to use alternately, with a duration of at least 10 days, totally for 30 days of the study. The safety of the products was assessed by phenylalanine concentration in the blood (determined by the fluorimetric method). In addition, we assessed the organoleptic qualities of the products and the dynamics of physical development of children. Results. The study included 15 children, mean age 4.4 ± 1.9 years. The initial concentration of phenylalanine in the blood varied from 1.6 to 3.9 mg%, the median — 2.2 mg% (2.0; 2.8). In 30 days after inclusion of starchy flakes in the diet, the content of phenylalanine in the blood did not change and was 2.5 mg% (2.2; 2.7); p = 0.859. The organoleptic properties of the products were rated «excellent» by all patients and their parents (in children under 6 years, only according to the parents’ assessment). The indicators of physical development did not change. There was no adverse events (allergic reactions, dyspepsia, refusal to take food). Conclusion. Introduction of new functional products — low-protein starchy flakes enriched with a vitamin complex and natural fruit and berry additives — in the diet of children with phenylketonuria allows to maintain the level of phenylalanine in the blood at the level of reference values.

Background. Data on the efficacy of enzyme replacement therapy (ERT) in relation to the pathology of ENT organs and respiratory performance in sleep in children with mucopolysaccharidosis (MPS) is poorly presented in the literature. Our aim was to assess the effect of ERT on the upper respiratory tract in children with MPS. Methods. According to the case histories, we studied treatment results of children with MPS type I and II who received ERT in the Research Center of Children’s Health from January 2007 to November 2016. The severity of upper airway obstruction and its change during ERT was assessed according to indices of apnea-hypopnea and desaturation (SpO2), average/minimal SpO2, duration of SpO2 episodes < 90%, and hypertrophy degree of palatine tonsils and adenoids. Results. The severity of the obstructive sleep apnea syndrome did not progress in children (n = 15) with MPS against the background of ERT with a median duration of 38 (23; 48) months: initially, the apnea-hypopnea index was 3 (1.3; 7.7), while the repeated study — 2.6 (0.9; 13.5) (p = 0.507). There was also no statistically significant change in cardiorespiratory monitoring values. Conclusion. Long-term ERT in children with MPS type I and II interferes with the progression of airway obstruction.

Background. The problem of distrust of immunization is widespread not only in Russia but also all over the world. Many parents refuse to vaccinate their child reasoning that the vaccines can harm their health, the immune system may not cope with the body burden; and some doctors themselves discourage parents from vaccination. Our aim was to assess the attitude of doctors and parents towards vaccination whose children are vaccinated completely or partially; to study the most frequent reasons for refusals of vaccination by parents. Methods. We used the questionnaires for parents (n = 114) who brought their children for vaccination for the first time or repeatedly; and the questionnaires for students of 4–6 courses and interns of medical universities (n = 336) who expressed their sentiments towards vaccination and demonstrated the knowledge of the national and regional immunization schedules. AstonGroup also conducted studies among physicians of different specialties (n = 307) on the most frequent reasons for refusals of vaccination. Results. In most cases, the parents’ attitude towards vaccination was positive. One in three patient representatives considered that he was fully acquainted with immunization issues, and more than half wanted to be vaccinated only within the national immunization schedule. In almost 100% of cases, parents had trust in information about vaccination received from a doctor. The results of the AstonGroup survey showed that the most frequent medical exemptions were given by neurologists, immunologists, and surgeons. And the parents themselves, who brought their children to see doctors, reasoned their refusals of vaccination with fear of complications and also considered vaccination to be harmful and useless. The doctors participating in the survey offered methods for influencing the parents, namely: providing them with accessible information about vaccinations included in the national immunization schedule as well as about the experience of using vaccines, including other countries. Discussion. The survey revealed insufficient knowledge of the national immunization schedule among students as well as cautious attitude towards vaccination issues and the trust in vaccination myths among legally authorized representatives of patients. Conclusion. The effective measures to combat ‘anti-vaccination scepticism’ are lectures for parents; personal, social and health education at pediatric sites as well as continuing medical education.

Background: Patient registries help to obtain relevant information about the peculiarities of certain diseases, as well as the safety and effectiveness of different medical technologies. Moreover, it allows conducting a continuous monitoring in a studied group. Objective: to analyze the effectiveness and safety of a long-term target therapy with Omalizumab (more than 4 years) in children with severe persistent uncontrolled asthma based on the electronic clinical cases database (registry). Methods. The outcomes of the treatment were evaluated based on the data from the registry of patients with severe uncontrolled asthma. Time period: November 2007- March 2018. The main goal of the research was to identify the number of patients who achieved the disease control (20 points С-АСТ-test in children aged 6–11 years or 25 points АСТ-test in children aged 12–17 years) at least in one of the time points — in 4; 6; 12 or 48 months. Results. The results of the treatment of 26 children were analyzed (males — 73%), median age — 17 years. The posology of Omalizumab was 75 to 600 mg, median (Me) 300 mg [225; 375]. Asthma control test (ACT) before the start of the treatment was 14 points (Me 14 [12; 17,5], in 48 mo — 21 points (Me 22 [20; 24]; p=0,0017). The decrease of the amount of the daily therapy was demonstrated. The median dose of the ICS (fluticasone) was 575 mcg/day (Me 500 [437,5; 750]) before the start of the treatment, in 48 mo — 492 mcg/day (Me 500 [250; 562,5]; p=0,066). The decrease of the number of exacerbations and the use of SABA from 12 (Me 10,5 [9,75; 13,25]) to 0,8 times/month (Me [1; 0;1]) was observed after 4 years of treatment (р=0,000). No adverse events were observed. Conclusions. Long-term therapy with Omalizumab increases the disease control in children with severe persistent asthma. The registry as a continuous monitoring tool enables to conduct a complex evaluation of the effectiveness and safety of the treatment.

The socio-economic burden of the consequences of perinatal central nervous system damage in preterm infants remains an urgent healthcare issue. The review discusses the modern concepts of cerebral ischemia pathogenesis in prematures, the peculiarities of diagnosing structural brain lesions, and the ability to predict motor deficits in the future. The possibilities of assessing mental, motor development and social adaptation disorders of premature infants with consequences of perinatal pathology in the early stages of ontogenesis are described.. The modern views on rehabilitation and restorative treatment of premature infants with combined perinatal pathology are highlighted. The characteristics of non-invasive methods for early diagnosis of central nervous system pathology and therapeutic methods with the rationale for choosing preventive and curative measures and the further prediction of the disease course and outcome are given. The world experience of multidisciplinary rehabilitation of premature infants with combined perinatal pathology is highlighted.

Background. Congenital epidermolysis bullosa (CEB) belongs to the group of rare hereditary diseases with severe skin lesions. Congenital dystrophic epidermolysis bullosa (CDEB) is characterized by multiple organ dysfunction accompanied by impaired nutritional status. For a more accurate assessment of nutritional status, planning and control of the efficacy of nutritional support, it is important to assess body composition parameters in addition to anthropometric indices. Our aim was to study the possibility and advisability of using methods for assessing the body composition of children with CDEB. Methods. The study included 43 children with CDEB aged from 2 months to 15 years. Z-scores anthropometric indices weight-for-age (WAZ), height-for-age (HAZ), and bodymass-index-for-age (BAZ) were estimated using the WHO AnthroPlus software. Air displacement plethysmography was performed on the PEA POD (LMi, USA) intended for use in infants. Bioimpedansometry was performed in children older than 6 years according to the standard tetrapolar technique. Results. For children with CDEB, a decrease in the indices of WAZ (-2.24 ± 1.46) and BAZ (-2.5 ± 1.74) is typical. BAZ below -3 (severe nutritional deficiency) is recorded for 21 children. Bioimpedansometry had significant constraints (skin lesion and/or scarring at the sites for standard positioning of electrodes), was performed for 5 study participants and produced erroneous results (the percentage of fat and active cell mass turned out to be normal even in children with moderate and severe nutritional deficiency). Air displacement plethysmography showed correct results, but this method had baby weight and skin state limitations. Conclusion. Methods for assessing the body composition should be applied in clinical practice to assess the nutritional status and its dynamic control in children with CDEB.

Lysosomal acid lipase deficiency is a rare hereditary progressive disease of lipid metabolism leading to the development of atherosclerosis, hepatosplenomegaly, liver cirrhosis, malabsorption, and other symptoms. In the absence of specific treatment, the prognosis for the patient is unfavourable, so timely diagnosis of the disease is extremely important. The incidence of lysosomal acid lipase deficiency in the Russian Federation is unknown. Given its rarity, there is a high probability of hypodiagnosis. In this regard, the presented results of the study of this disease prevalence are of particular relevance.