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Atypical hemolytic uremic syndrome (aHUS) is an orphan disease caused by hyperactivation of the alternative complement pathway. Objective of the study: to assess the state of the «ADAMTS13 – von Willebrand factor (vWF) – platelets» system in children with aHUS. Materials and methods of research: [by the FRET method (fluorescence resonance energy transfer) for the FRETSVWF73 (Peptide Institude, Inc., Japan)] hydrolysis of the fluorescent substrate and ADAMTS13 antigen [by ELISA using TECHNOZYM® ADAMTS13 5450551 ELISA (Technoclone GmbH, Austria)], vWF activity [for platelet agglutination (aggregation) in the presence of ristomycin (NPO Renam reagent kit for the ALAT-230LA-2 aggregometer, Russia)] and vWF antigen [by ELISA using the TECHNOZYM® vWF kit: Ag 5450201 ELISA (Technoclone GmbH , Austria)]. Results: there was a decrease in the activity and concentration of ADAMTS13 in 63% and 62% of patients, respectively. A decrease in vWF activity was noted in 44% of cases, an increase in its concentration – in 54% of children. Thrombocytopenia was diagnosed in 99% of children. Conclusion: the imbalance in the «ADAMTS13 – vWF – platelets» system supports the process of thrombus formation with the development of organ ischemia in aHUS under conditions of endothelial dysfunction. Reduced ADAMTS13 activity predicts the severity of the disease.

Williams syndrome (OMIM 194050) is a multisystem inherited disorder associated with microdeletion of the long arm of chromosome 7 (q11.23). Typical clinical manifestations of the syndrome are supravalvular aortic stenosis and other congenital anomalies of the heart and blood vessels, facial abnormalities, neonatal hypercalcemia, lag in physical, psychomotor and mental development, unusual cognitive and behavioral profile. Patients with WS require medical supervision and prevention of complications throughout their lives. The paper presents an overview of the results of studies devoted to the study of various aspects of diagnosis and management of patients with WS. The description of the three new cases of WS addresses the main problems and possibilities of diagnosis of the disease in patients with different clinical manifestations.

Objective of the study: assessment of the nutritional status of infants with bronchopulmonary dysplasia. Materials and methods of research: a retrospective uncontrolled non-randomized cross-sectional comparative study was carried out. It involved 40 premature babies (boys – 19, girls – 21) at the corrected age of 3,3 [2,3–4,0] months and 16 age matched full-term babies (comparison group). Children born prematurely were divided into 2 groups depending on their body mass (BM) at birth: 1st – 25 children with BM less than 1500 g, 2nd – 15 children with BM from 1500 to 2500 g. The first group included subgroups 1A and 1B, depending on the presence or absence of bronchopulmonary dysplasia in children. Physical development was assessed using INTERGROWTH-21st and WHO Anthro, 2009 anthropometric calculators, body composition was determined by air plethysmography using a PEA POD apparatus. Results: the assessment of anthropometric indices (WAZ and HAZ) calculated for postnatal and corrected age revealed the most severe manifestations of nutritional deficiency in children with very low BM at birth who developed bronchopulmonary dysplasia. The percentage of fatty BM was statistically significantly lower in children of subgroups 1A and 1B compared to full-term infants (p

The prevalence of food allergy (FA) among children with atopic dermatitis (AD) ranges from 26 to 38%. The article presents an analysis of domestic and foreign publications devoted to the peculiarities of the AD flowing from the FA in children, in which the withdrawal diet plays a leading role in elimination diet. The complete or partial exclusion of one or several foods from the diet contributes to an insufficient intake of macro- and micronutrients, which can lead to a decrease not only in body weight, but also in a delay in the growth of children, as well as in decrease in parameters of bone mineral density. According to research results, the intake of calcium and vitamin D in children with AD and FA is below the recommended levels. The serum 25(OH)D level in these patients is lower than in the general population and is inversely proportional to the SCORAD index. Vitamin D supplementation improves the effectiveness of treatment, helps to reduce the clinical manifestations of AD, as evidenced by a decrease in indicators of both the SCORAD index and the EASI index. The timely and adequate correction of the diets of children with FA who follow strict elimination diets requires an interdisciplinary approach in close cooperation between the pediatrician, allergist and nutritionist.

The aim of the study was to determine the frequency of occurrence and to assess the significance of markers of pneumocystosis in frequently ill children (FIC) during inpatient treatment and during rehabilitation in a sanatorium. Materials and methods of research: 115 children with recurrent respiratory diseases were observed: 52 were treated in a hospital and 63 underwent rehabilitation in a sanatorium. Biological samples (oropharyngeal swabs, saliva, feces and blood serum) were examined for pneumocystosis. Laboratory techniques used: a polymerase chain reaction (PCR) to detect DNA pathogens, an indirect immunofluorescence reaction (NRIF) – antigens, and immunoforment analysis (IFA) – specific antibodies of immunoglobulins (Ig) of classes M (IgM) and G (IgG). The material for laboratory research was smears from the posterior pharyngeal wall (PCR, NRIF) and blood serum (IFA). Microbiological studies included seeding, isolation of cultures with quantitative counting of colony-forming units in samples of oropharyngeal swabs, feces. Determination of the functional activity of the oropharynx microbiocenosis by the concentration of short-chain fatty acids in saliva by means of GLC method. Phagocytic activity of blood neutrophils was also investigated. Results: in hospital patients, markers for pneumocystis were found in 60% of cases, including the active form (40%) and pneumocystis (13%); in the sanatorium – 33% of cases, with active infection (26%) and detection of pneumocystis (17%). Inpatients were diagnosed with clinical variants of pneumocystis infection: pneumonia, obstructive bronchitis, acute respiratory infections; schoolchildren have been diagnosed with active pneumocystis infection and carriage. Dysbiotic disorders of the loci of the oropharynx and intestines were identified in all examined subjects, inhibition of the phagocytic activity of blood neutrophils and shifts in the concentration of short-chain fatty acids have been observed. Conclusion: a high proportion of active pneumocystis infection (40% and 27% of cases) was revealed in FIC treated in the hospital and in the sanatorium, which represents a risk group for infection/reinfection with pneumocystosis in the premises.