The paper presents major achievements in medical genetics, which contribute to the identification of causes of developmental delay and mental retardation in children, to the enhancement of the efficiency of treatment in patients, and to the prevention of recurrences in a family. The widespread introduction of molecular genetic techniques and the analysis of genotype-phenotype correlations in Rett syndrome, homocystinuria, and mitochondrial and other diseases give grounds to predict the course of an abnormality and to provide medical genetic counseling. The use of current methods for molecular karyotyping leads one to specify the nature of disease in previously undifferentiated developmental delays. The development of novel treatments, including drug, enzyme replacement, or substrate reduction therapies, for hereditary metabolic diseases, is certain to be an important achievement.

The paper presents the psychological characteristics of mothers who have given birth to preterm babies. Emphasis is laid on the impact of maternal depressive state on the psychosomatic status of a baby and his development. There are data on quality of life in the families raising preterm children, as well as psychosocial intervention and assistance programs for such families. The role and impact of a doctor’s advice about the health and development of a preterm child on his parental psychological status mediate the efficiency and quality of health care to the child.

The paper analyzes the recent literature on cardiomyopathies developing in inborn errors of metabolism. It considers cardiomyopathies as a severe manifestation of primary carnitine deficiency, fatty acid transport and β-oxidation defects, organic acidemias, and lysosomal diseases (including Pompe disease, Danon disease, etc.). Attention is given to diagnostic criteria for the above diseases and to the possibilities of treatment.

In the regions polluted with industrial or agricultural toxicants, dysmetabolic nephropathy is detected in every 2 or 3 children and this rate increases with age. Exogenous intoxication is not the only cause of dysmetabolic nephropathy; of no less importance are endogenous toxicants, such as oxidative stress products, excess of usual metabolites or emergence of unusual products of abnormal metabolism. The toxicants are ascertained to be able to change the conformation of protein molecules to give rise to additional ligand loci ensuring the aggressive uptake of trace elements that fix changes in protein molecules, making them antigenically alien to the body. Low molecular weight proteins with their changed structure, which penetrate through the basement membrane, are unrecognized by the reabsorption systems of proximal tubules and excreted with urine, determining the appearance of the most steady and age-increasing sign of dysmetabolic nephropathy – microproteinuria or trace elementuria.

Numerous investigations show that breastfeeding exerts a long-term positive impact on children’s health due to the unique composition of breast milk. The fat constituent of the latter, the major components of which are triglycerides, phospholipids, fatty acids, sterols – primarily cholesterol, makes a special contribution to a child’s development. The fat fraction of breast milk represents fat globules. The nucleus of each globule contains triglycerides that are surrounded by a membrane. The milk fat globule membranes (MFGM) are a protein-lipid complex that contains mineral substances, enzymes, and nucleic acids. The MFGM lipid component represents phospholipids, gangliosides, cerebrosides, and cholesterol. These substances are major components of cell membranes. The phospholipid/cholesterol ratio in the membrane determines its major properties of fluidity and hardness, which is important for the body’s cells to function properly. Gangliosides and cerebrosides, the major lipids of nervous tissue cells, play a key role in brain development. In a bottle-fed baby, MFGM-containing milk formula (MFGM&milk fat) has the same positive effect as breast milk on his development as confirmed by long-term clinical trials.

Objective. To estimate the impact of the complicated perinatal period on cerebral hemodynamics in high-risk neonates who have experienced hypoxia-ischemia and been born by caesarean section. Patients and methods. Structural characteristics of the brain and its hemodynamics were examined in 690 neonates born by different modes of delivery at various gestational ages (out of them 540 neonates had experienced hypoxia-ischemia).

Results. In the first 24 hours of life, the babies with a compromised perinatal period, especially after caesarean section, developed structural changes in the brain and its hemodynamic disorders that were correlated with the severity of prior hypoxia-ischemia and the degree of prematurity. The neonatal period was marked by the delayed recovery of cerebral hemodynamics in infants exposed to a set of damaging factors.

Conclusion. The complicated perinatal period and the joint impact of hypoxia-ischemia, operative delivery, and preterm pregnancy on the fetus and the neonate result in persistent impairment of cerebral blood flow. The early diagnosis of brain structural and hemodynamic disorders serves as the basis for an in-depth examination of the central nervous system and for effective drug correction in order to prevent decompensation and its related complications.

Objective: to study the prognostic role of neuron-specific factors, such as brain-derived neurotrophic factor (BDNF), vascular endothelial growth factor (VEGF), and neuron-specific enolase (NSE) in the development of organic central nervous system (CNS) damage in extremely preterm infants at 1-year corrected age. Enzyme immunoassay was used to measure umbilical cord blood at birth, peripheral blood at 7 days of life and at 40 weeks post-conceptual age. It was shown that BDNF was lower and VEGF was higher in the patients who had developed organic brain damage that in those who had transient brain damage (p<0,05). The umbilical cord blood content of NSE in the infants with organic CNS damage exceeded that in those with transient brain damage. There was a close correlation between decreased BDNF, increased VEGF, and the developed organic CNS damage in extremely preterm infants at 1-year corrected age (R = -0,75, R = -0,64).

The results of using three imaging technologies (intravenous urography, micturating cystography, and B-mode kidney ultrasound imaging) in 62 children aged 10 to 206 months, examined at the city nephrology hospital, were comparatively analyzed. The findings showed the comparatively high diagnostic value (a sensitivity of 70% and a specificity of 87%) of echography particularly for severe urinary tract malformations. At the same time, echo location was found to be insufficient to detect vesicoureteral reflux (a sensitivity of 20% and a specificity of 85,5%), which is a ground for the further improvement of examination protocols for patients with urinary tract infections.

The efficiency of combination therapy for multiple sclerosis was evaluated in 40 children aged 10 to 17 years. Two groups matched for major clinical and laboratory parameters were treated every 6 months during 3 years. Both groups received one cascade plasma filtration session using plasma Evaflux 2A (Japan) and then intravenous immunoglobulins G during 2 days. Unlike the comparison group (n=10), the study group (n=30) had additionally antiviral and immunomodulatory therapy; the volume and duration of which were determined by the presence or absence of Herpesviridae reactivation in cerebrospinal fluid (CSF) and/or blood. The performed therapy was established to have a positive effect in 90% of the patients in both groups, but the study group showed valid more significant results and achieved decreased reactivation of chronic herpesvirus infections (predominantly that with Epstein–Barr virus and herpesvirus 6) in CSF and blood and reductions in EDSS scores in 80% of cases, by an average of 61%, and in the annual rates of exacerbations by 46%.

This article describes 9 clinical cases of Aicardi–Goutières syndrome (AGS) in children admitted to the hospital of the Scientific and Practical Center of Medical Care for Children with Resistant Multifocal Epilepsy. Epilepsy, psychomotor retardation, and a loss of previously acquired skills were diagnosed during the investigation. Targeted exome sequencing in one child revealed a mutation in the RNASEH2B gene responsible for the development of this disease. AGS is an early-onset progressive encephalopathy with basal ganglia calcification, leukodystrophy, lymphocytosis, elevated interferon-alfa levels in the cerebrospinal fluid, and no evidence of viral infection. Noninfectious leukoencephalopathy concurrent with multifocal epilepsy in early childhood suggest that the syndrome is an inherited disease.

Objective: to study the intestinal microflora in children with emergencies due to enteric infections. Subjects and methods. A total of 147 patients aged 6 months to 14 years were examined. Clinical, scatological, and bacteriological studies were used.

Results. Grade III dysbacteriosis was shown to be prevalent in children with emergencies due to enteric infections.

Conclusion. Analysis of the microbial landscape of isolated pathogens revealed the dominant role of Proteus and a significant proportion of Pseudomonas aeruginosa and permanently relevant Staphylococcus aureus.

The authors give the material of their own observations on the clinical and laboratory efficacy of the Russian intravenous immunoglobulin Gabriglobin for the treatment of enteroviral meningitides in children.

The performed trials indicated that the use of Gabriglobin in the combination therapy of severe enteroviral meningitides in children reduced the duration of intoxication, global cerebral symptoms, meningeal syndrome, the time of cerebrospinal fluid sanitation by 1,5 times, and that of in-hospital treatment by 5,8±1,8 days as compared to those who received conventional basic therapy.

The salivary and hair levels of bioelements, such as calcium, potassium, magnesium, iron, zinc, chromium, and selenium, were investigated in 130 children and adolescents, including 35 swimmers, 47 hockey players, 20 fencers, and 28 schoolchildren who did not additionally go in for sports. Atomic emission spectrometry and inductively coupled plasma mass spectrometry were applied. The aim of our study was to investigate the characteristics of macro- and microelemental composition of the saliva and hair of young athletes. The investigation established that that all young athletes showed the high levels of potassium and selenium in their hair, those of selenium and chromium in the saliva, and a significantly low concentration of potassium in the saliva (p<0,05), reflecting the intensity of mineral exchange during physical exercises. Individual characteristics were found in the content of chemical elements in the test biological substrates in relation to the kind of sports: the salivary levels of calcium and magnesium were reduced and the hair level of iron was increased in fencers (p<0,05); and the field-hockey players had higher zinc values (p<0,05). Comparison of the hair and salivary concentrations of bioelements established that there was a statistically significant relationship for potassium (R=-0,72; p<0,001) and selenium (R=0,44; p=0,004). Non-invasive screening studies of salivary and hair minerals are recommended for the early diagnosis of an imbalance in macro- and microelements in young athletes. There is evidence that young athletes should be identified as a group of patients at risk for an imbalance of macro- and microelements.

A comment on the article “The levels of bioelements in the saliva and hair of young athletes” by N.A. Troegubova et al.

The paper deals with an investigation of the clinical and microbiological efficiency of combination treatment in 63 term and preterm neonates with ventilator-associated pneumonia caused by gram-positive cocci or their associations with gram-negative bacteria. All strains of gram-positive pathogens were susceptible to linezolid (its minimal inhibitory concentration was ≤ 4 µg/ml). The drug was used in combination with β-lactam antibiotics or aminoglycosides. All the infants displayed positive microbiological changes. Clinical effectiveness was noted in 95% of the newborn infants. There was secondary infection with gram-negative microorganisms in 25 cases and that with Enterococcus faecalis autostrains in 2 preterm infants.

To reduce the damaging action of hypoxia and to correct severe metabolic and cardiac disorders in critically ill premature newborn infants, metabolic therapy with cytoflavin was studied in extremely premature infants (33 and 25 babies in a study group and a comparison one, respectively).

The use of this drug in extremely low and very low birthweight babies with posthypoxic myocardial damage and severe metabolic disorders was found to lead to normalization of acid-base balance within 24 hours after treatment initiation. During the therapy, there was a marked cardiocytoprotective effect and no increase in the degree of intragastric bleedings.

The paper deals with the topical issues of using high-performance sequencing to diagnose monogenic diseases. The de facto method is widely used in clinical practice. The rapid development of high-performance sequencing requires that medical geneticists and pediatricians specializing in hereditary diseases should understand its possibilities and limitations, choose a strategy for diagnosis in each specific patient, and competently interpret the obtained results.

The article discusses major functional digestive disorders that are common in neonates and infants, diagnostic criteria and correction methods. It discusses the significance of nutrition in correcting the found digestive disorders and the possibility of safely and effectively normalizing a child’s digestive functions with the correct composition of food and minimizing drug exposure. From this point of view, good nutrition for a child can be considered as first-line therapy in many situations.

The paper presents the clinical results of a double-blind, randomized, placebo-controlled multicenter phase III study evaluating the clinical efficacy and safety of Ingavirin® capsules 30 mg at a daily dose of 60 mg for the treatment of influenza and other acute respiratory viral infections (ARVI) in 7–12-year-old children.

The study included 310 children of both sexes. The study participants took Ingavirin® 60 mg/day or placebo for 5 days. The drug was shown to be effective in normalizing temperature and alleviating intoxication and catarrhal syndromes just at day 3 of therapy. Ingavirin® was demonstrated to considerably reduce the risk of bacterial complications of ARVI/influenza, which require antibiotic therapy, which is important for clinical use in children. This clinical trial has shown the high safety and tolerance of the drug. Ingavirin® contributes to accelerated virus elimination, shorter disease duration, and lower risk of complications.

Медицинская общественность Воронежской области, детские нефрологи России с глубоким прискорбием извещают, что 27 марта 2016 года ушла из жизни профессор кафедры госпитальной и поликлинической педиатрии Государственного бюджетного образовательного учреждения высшего профессионального образования «Воронежский государственный медицинский университет имени Н.Н. Бурденко» Министерства здравоохранения Российской Федерации, доктор медицинских наук, профессор, заслуженный врач России Ситникова Валентина Пантелеевна.