The paper considers the topical issues of pediatric gastroenterology both in the context of research advances and the possibility of practically applying current instrumental and laboratory methods for diagnosis. It underlines the importance of evolution of gastroenterological diseases, and a relationship between infant morbidity and chronic digestive diseases in adults. Attention is drawn to the need to use existing treatment protocols and to create new protocols for the most common nosological entities; emphasis is laid on the role of preventive measures in the work of a pediatrician and a pediatric gastroenterologist. 

During a clinical examination of children with autistic spectrum disorders, attention should be drawn to both their major clinical manifestations and neurological comorbidities. The paper considers the mechanisms of autism-induced neurological disorders, the spectrum of which may include manifestations, such as retarded and disharmonic early psychomotor development; the specific features of sensory perception/processing; rigidity and monotony of motor and psychic reactions; motor disinhibition and hyperexcitability; motor stereotypies; uncoordinated movements; developmental coordination disorders (dyspraxia); impaired expressive motor skills; speech and articulation disorders; tics; epilepsy. It describes the specific features of neurological symptoms in Asperger’s syndrome, particularly in semantic-pragmatic language disorders, higher incidence rates of hyperlexia, motor and vocal tics. The incidence rate of epilepsy in autistic spectrum disorders is emphasized to be greater than the average population one. At the same time, the risk of epilepsy is higher in mentally retarded patients with autism. Identification of neurological disorders is of great importance in determining the tactics of complex care for patients with autistic spectrum disorders. 

Cardiovascular disease is a common complication of chronic kidney diseases and a leading cause of death in patients with end-stage renal failure. Involvement of the cardiovascular system in chronic kidney disease is due to the early formation of traditional factors (hypertension, dyslipidemia) and the presence of kidney disease-related cardiovascular risk factors (anemia, dysproteinemia, and calcium and phosphorus metabolic disturbances). The kidney disease-related risk factors are determined by the nature of kidney disease and the degree of renal dysfunction. The cardiovascular changes include remodeling of the vascular wall and myocardium, leading to their dysfunctions with time. The article considers the current views on the pathogenesis of cardiovascular diseases in patients with chronic kidney disease. 

There is evidence that eosinophils play a considerable role in the pathogenesis of many diseases (allergic, granulomatous, autoimmune, interstitial, idiopathic, parasitic, neoplastic, and myeloproliferative ones). However, despite the long history of studies of eosinophils, their biological properties were still little studied. The review summarizes the results of studies dealing with the spectrum of cytokines that are secreted by eosinophils and ensure their pleiotropic effects, including immunomodulation, an effect on tissue homeostasis and repair. It also describes the types of eosinophil secretion of cytokines and their effect on the function of eosinophils themselves. Special attention is paid to the scientific facts of cytokine secretion in allergic diseases in children with eosinophilia and to the pathogenic role of cytokines. 

The urine content of heavy metals was examined in 113 newborns aged 7 to 15 days, living in Moscow and the Moscow region. Ten infants were healthy; 103 babies had perinatal infectious and non-infectious diseases. Uranium, gallium and zirconium were not detected in any urine sample. Arsenic, lead, cobalt, bismuth, antimony, indium, and molybdenum were absent in the urine of healthy newborns, but could be present in various abnormalities (tracheobronchitis, pneumonia, congenital malformations, intrauterine growth retardation, conjugated jaundice, systemic edema syndrome, hemorrhagic syndrome, aspiration syndrome, respiratory distress syndrome). The concentration of chemical elements in the urine of infants with different diseases increased by 5—698% compared to the upper limit of normal and the rate of their concentration increase was encountered in 11-100% of the patients. The greatest changes in the composition and concentration of chemical elements occurred in pneumonia, congenital malformations, and hemorrhagic syndrome. The typical spectrum of elements was noted in each disease. Nickel, cadmium, molybdenum, lead, and tin were most common (in 25% to 71% of the newborns), antimony was least common (in 13% to 17%). Chromium, titanium, barium, silicon, copper, aluminum, boron, and silver were also more often present in the urine of the sick babies than in that of the healthy ones. 

Objective: to assess the state of the immune system in children born to women with gestational diabetes. Forty-two of umbilical cord blood samples from full-term infants, including 22 babies born to women with gestational diabetes mellitus (GDM) (a study group) and 20 born to those without this condition (a comparison group), were explored. Flow cytofluorometry was used to measure the counts of major T- and B- lymphocyte population, the level of expression of activation markers on monocytes (CD14+ HLA-DR+) and lymphocytes (CD25, CD69), as well as markers characterizing the functional maturity of cells (CD45R0, CD45RA) in both the total lymphocyte pool and T cell population. The serum levels of IL-1β, IL-4, IL-6, IL-8, IL-10, TNF-α, and IFN-γ were estimated by ELISA. The immune system of the infants born to women with GDM was established to be characterized by a decrease in the relative count of CD3+, CD4+ and CD3+CD45RA+ cells and in the expression of activation markers (CD25+, CD4+ CD25+ and CD14+ HLA-DR+) in conjunction with an increase in the absolute count of primed T lymphocytes and in the levels of natural killer cells and IL-8. This investigation provides a way of identifying a group at risk for postnatal infectious diseases. The decline in the indicators of innate and adaptive immunity in the umbilical cord blood may be a ground for ultrasonography in newborn babies born to women with GDM to detect thymic abnormalities. 

Neonatal infants of women with congenital heart disease underwent clinical and instrumental examinations to predict the types of adaptation of the cardiovascular system in the early neonatal period. A study group comprised 125 newborns of mothers with CHD; a control group consisted of 50 babies of somatically healthy mothers. The paper describes different types of adaptation, their characteristics and frequency in the infants born to mothers with heart diseases depending on whether maternal on-line defect correction is made. The newborns of mothers with congenital heart diseases are shown to be a high risk group for heart diseases in the early neonatal period. At the same time, blood pressure and echocardiographic parameters and the level of vasoregulators are of high informative value in diagnosing the types of adaptation of the cardiovascular system at the preclinical stage. 

Connective tissue dysplasia is the constitutional basis for cardiac pathology in women and their newborn infants. A higher serum free hydroxyproline concentration and a lower free to peptide-bound hydroxyproline ratio in women with congenital heart disease in the presence of connective tissue dysplasia and a similar trend of changes in these markers in their newborns diagnosed with congenital atrial septal defect indicate the slowed metabolism of collagen and its reduced biological recycling rate, which serves as a poor prognostic sign. The mentioned biochemical markers may be used as additional criteria for preclinical diagnosis of fetal and neonatal cardiac diseases, for assessment of their prognosis and for implementation of preventive measures. 

The paper gives data on blood gas homeostasis and oxygen-transport function in very low and extremely low birth weight infants during the first year of life. Subgroup 1 comprised infants who had reached the mean 38—40 weeks post-conceptual age (PСА) physical development indices that had been characteristic of full-term babies; Subgroup 2 consisted of infants who had not reached these PСА indices. The metabolic features of an extremely premature infant suggest hypoxic disorders (low total oxygen levels, decreased blood oxygen saturation in the presence of low hemoglobin count, and increased lactate levels), pointing to an imbalance in oxygen exchange with the prevalence of anaerobic glycolysis. The regularities obtained suggest that chronic tissue hypoxia persisting during the first year of life and interfering with the adequate growth of an extremely premature infant is of considerable importance in his/ her development. 

The term phenylketonuria encompasses some genetically heterogeneous diseases from a group of hereditary amino acid metabolic disorders, the key biochemical sign of which is a steady increase in blood phenylalanine levels – hyperphenylalaninemia. Phenylketonuria is a most common disease of the above group; its rate in the Russian Federation is 1:7140 neonates. The rare causes of hyperphenylalaninemia include the cofactor (biopterin-deficient) forms associated with tetrahydrobiopterin deficiency, leading to the blocked metabolic pathways for converting phenylalanine to tyrosine and for synthesizing catecholamine and serotonin precursors (L-dopa and 5-hydroxytryptophan). The distinguishing feature of all cofactor forms of hyperphenylalaninemia is the inefficiency of an isolated low-protein diet. Cofactor therapy with sapropterin in combination with correction of neuromediatory disorders is used in the combination treatment of these patients. The paper presents a case history of a child with severe biopterin-deficient hyperphenylalaninemia resulting from a defect in the PTS gene. The clinical example illustrates difficulties associated with the diagnosis of cofactor hyperphenylalaninemia and with long individual dosage adjustments for medications. 

The paper presents the results of analyzing the data of congenital malformation monitoring in 31 regions of the Russian Federation during 2006—2012. The analysis of the common database has yielded rates of all malformation cases notified in their departments, as well as those of a group of selective defects (21 identified forms), allowing for comparing inter- and intraregional comparisons. The rate of all registered malformations was 23.04 per 1000 births. The variations in the overall rate of malformations in the period under study are not statistically significant. The estimates for the rates of individual malformation forms in the Russian registry are given in comparison with the EUROCAT data. 

The impact of VIFERON therapy on clinical, immunological, and virological characteristics was evaluated in 40 children aged 1 month to 3,5 years with acute respiratory virus infection. Study group patients (n=20) received a treatment cycle of VIFERON® in a daily dose of 1 000 000 IU. Comparison group patients (n=20) had symptomatic treatment only. The investigators revealed IgM and IgG antibodies to cytomegalovirus, Epstein—Barr virus, and human herpesvirus 6 and determined herpesvirus DNA in blood, saliva, and urine and respiratory virus DNA/RNA in nasopharyngeal swabs. Flow cytofluorometry was used to study the quantitative composition of lymphocytes with phenotypes CD3+, CD3+4+, CD3+8+, CD3-16+56+, and CD3+CD16+CD56+. The efficiency of VIFERON® therapy was evaluated comparing the results of examinations of the children before and 7 days after treatment. In the study group, the VIFERON® therapy-induced elimination rate for rhinovirus, metapneumovirus, and influenza virus A accounted for 100% and that for respiratory syncytial virus and adenovirus was 87,5 and 66,7%, respectively. In the comparison group, the elimination rate for rhinovirus accounted for 66,7% and that for respiratory syncytial virus and adenoviruses was 0%. The effiacy of VIFERON® against herpesviruses was lower than that against respiratory viruses although Epstein–Barr virus and human herpesvirus 6 eliminations were significantly more frequently noted in the study group patients. In this group, there was accelerated resolution of inflammation, a more pronounced immunotropic effect, including an antiviral effect, than in the comparison group. 

Skin barrier dysfunction due to deficiency of the skin protein filaggrin is one of the factors involved in the pathogenesis of atopic dermatitis. Objective: to determine the clinical significance of 2282 del CAGT, R501X, R2447X, and S3247X mutations in the FLG gene in children with atopic dermatitis. The investigation included 58 children with atopic dermatitis. A molecular genetic analysis of the four mutations in the FLG gene was done in all the children. In the patients with FLG gene mutations, there was a tendency towards a higher frequency of sensitization to house dust allergens, significantly more often sensitization to cat epidermal allergen, and significantly higher levels of specific IgE to the cat epidermis. Conclusion. Mutations in the FLG gene encoding the protein filaggrin raise the risk for sensitization to domestic and epidermal allergens and, in case of already existing sensitization to the cat epidermis, the patients are found with a high degree of probability to have the high concentration of specific IgE to this allergen. The above fact justifies the need to place special emphasis on measures to eliminate house dust allergens, and cat epidermis allergen in particular, and to personalize approaches to therapy and prevention of atopic dermatitis in children. 

Abdominal syndrome accompanied by abdominal pains is common in children with Henoch’s disease. One of the rare complications of the syndrome may be bowel intussusception. The paper describes a case of Henoch’s disease complicated intestinal intussusception.

The given clinical case of a 14-year-old child with Marfan’s syndrome demonstrates the early severe cardiovascular system diseases, such as dilated cardiomyopathy and aortic root dilatation, that required surgical treatment when he was 9 years old, and grades 2 and 3 insufficiency of the mitral and aortic valves, respectively. The paper presents the modern view of the involvement of the heart and vessels in Marfan’s syndrome (cardiomyopathy as a new sign of the disease, arterial dissection). It shows new possibilities for treating cardiovascular disorders in children with this disease, such as pathogenetic therapy with losartan, anti-transforming growth factor-β antibodies. 

The study included 84 children aged 12—16 years with chronic fatigue syndrome in the presence of mitral valve prolapse (MVP), who were treated with L-carnitine (Elcar 30%) and Coenzyme Q10 (Kudevita). L-carnitine is involved in metabolic processes as a carrier of long-chain fatty acids from the cytoplasm to the mitochondria to produce ATP and acetyl-CoA. Coenzyme Q10 stimulates tissue respiration (aerobic processes) and participates in electron transfer in the mitochondrial electron transport chain. The clinical efficacy of energy-rich drugs was investigated before and after their treatment. The therapy was based on the data of an investigation by M. Trivellato et al. on carnitine deficiency and on those of our trials: the children with MVP were observed to have a significant increase in malondialdehyde levels and conjugated diene oxidation indices, which underlie mitochondrial insufficiency. The investigation indicated that prior to their treatment 100% of the children had been observed to have fatigue after exercise, as well as headache, memory and attention focusing impairments, and idiopathic hypersomnia, 34% of the patients complained of palpitation, and 43% had stabbing cardialgia. Three months later, the children who had received combined energy-rich therapy were noted to have a pronounced positive effect: 82% of them had no clinical symptoms of chronic fatigue. 

Objective: to reveal differences in the carnitine metabolism of children going in for various sports. The peripheral blood levels of free (FC) and bound carnitine (BC) were studied; a BC/FC ratio was calculated using liquid chromatography-electrospray ionizationtandem mass spectrometry in 121 children, including 46 ice-hockey players, 48 swimmers, and 27 healthy schoolchildren. The study established that the levels of FC in the group of ice-hockey players were 29,9±0,95 μmol/L, which was significantly lower than those in the group of swimmers (36,29±0,84 μmol/L) at p<0,001. In the ice-hockey players and swimmers, the BC/FC ratio was 0,54±0,02 and 0,46±0,02, respectively (the differences were significant; p<0,01. Analysis of gender-related differences revealed the lowest FC level in the group of female ice-hockey players and the highest BC/FC ratio in that of male ice-hockey players. This suggests that the swimmers, cyclical sports representatives (who perform mainly aerobic activity), have a more effective cellular energy. 

Eating disorder is observed in infants at different developmental stages. This condition may be caused by comorbidities, organic diseases, or psychogenic causes. After birth, a child’s eating behavior evolves, which largely depends on the relations arising between him, his mother, and other family members. Eating disorders may be caused by an impaired child-mother relationship: inadequate maternal behavior, excessive or poor parenteral attention. The treatment of eating disorders involves a comprehensive approach, including behavioral and dietary correction that is considered in this paper.