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Background. With the increased use of combination antiretroviral therapy, the mortality of people living with HIV has decreased significantly, which has led to an increase of comorbidity and secondary HIV-related pathology in both adults and also in children and adolescents living with HIV infection. The incidence of children and adolescents with HIV infection and those in the general population varies significantly.The aim. To assess the frequency and range of chronic comorbidities in children and adolescents with perinatal HIV infection Methods. We carried out an observational study. Data on the incidence of 161 children with perinatal HIV infection registered in the Irkutsk Regional AIDS Center were copied.Results. Overall incidence of tuberculosis (18633.5 per 100 000 children), diseases of the digestive system (24844.7 per 100 000 children), diseases of the eye and adnexa (28571.4 per 100 000 children), diseases of the nervous system (18012.4 per 100 000 children), mental and behavioral disorders (13,664.6 per 100 000 children) in children with perinatal HIV infection is the higher than in children of comparable age. The overall incidence values of the endocrine system diseases, eating and metabolic disorders, diseases of the ear and mastoid process, diseases of the circulatory system, diseases of the genitourinary system, as well as congenital disorders and chromosomal disorders in children and adolescents with and without perinatal HIV infection are comparable.Conclusion. The prevalence of diseases of the circulatory, respiratory and genitourinary systems in children with perinatal HIV infection is comparable to that in the corresponding population. Prevalence of tuberculosis, anemia, diseases of the gastrointestinal tract, diseases of the eye and adnexa, diseases of the nervous system, mental and behavioral disorders is higher compared to children not exposed to HIV.

Background. The incidence of diseases associated with impaired transport and oxidation of fatty acids is from 1:5,000 to 1:9,000 newborns. High morbidity, risk of death in the absence of timely correction, non-specificity of clinical manifestations define the importance of their timely laboratory diagnosis based on the determination of free carnitine and acylcarnitines in the blood. Reference values for free carnitine and acylcarnitines vary in different populations. The aim. To determine the reference intervals of free carnitine and acylcarnitines in newborns of the Irkutsk region and to compare them with similar reference intervals in newborns in other countries. Methods. The analysis of 229 samples of drу blood spots of healthy newborn children of the Irkutsk region aged from 0 to 7 days was carried out. Analysis of acylcarnitine concentrations was performed using high performance liquid chromatography with tandem mass spectrometry. Results. 2.5 and 97.5 percentiles (µmol/l) were calculateed for 13 acylcarnitines: C0 – [8.78; 38.08]; C2 – [3.55; 19.09]; C3 – [0.33; 1.96]; C4 – [0.08; 0.51]; C5 – [0.06; 0.44]; C5DC – [0.03; 0.17]; C6 – [0.01; 0.07]; C8 – [0.01; 0.07]; C10 – [0.02; 0.07]; C12 – [0.04; 0.51]; C14 – [0.07; 0.24]; C16 – [0.58; 3.25]; C18 – [0.35; 1.16]. Conclusion. Differences in acylcarnitine reference intervals were found: compared with other countries, the concentrations of reference intervals for C0, C2, C3, C5DC, C8, C10, C14, C16 and C18 were lower in our study, reference intervals for C5 and C12 were higher in our country.

Until now, there is no radical method of treating children with cerebral palsy, which allows us to consider scientific research in this direction reasonable and promising.The aim of the research: to study the effect of exercises on the mini-simulator “Kinesioplatform-swing” with biofeedback on the indicators of motor skills in children with spastic cerebral palsy.Materials and methods. We conducted an open, non-randomized, prospective, comparative, controlled study in pairs (each participant in the main group corresponds to a participant in the control group). The study involved 53 patients aged 4–12 years with cerebral palsy: the intervention group (group 1: n = 27 (13 boys, 14 girls)) and the control group (group 2: n = 26 (11 boys, 15 girls)), comparable in terms of gender, age and severity of movement disorders. Characteristics of the medical intervention: group 1 – botulinum toxin type A (BTA, for exercising against the background of relative muscular normotonus) + exercise therapy + exercises on the mini-simulator “Kinesioplatform-swing” with biofeedback (BFB); group 2 – BTA + exercise therapy. Duration of the study: 2019–2020. The difference between groups in terms of motor skills on the day of hospitalization and after completion of the training program (10 sessions each) was determined. Motor skills were assessed according to the GMFM-66/88 (Gross Motor Function Measure) table using the “Scales for measuring global motor functions”.Results. The inclusion of additional exercises on the mini-simulator “Kinesioplatformswing” with biofeedback in the rehabilitation of patients with movement disorders with spastic cerebral palsy (BTA + exercise therapy) in comparison with the control group. However, the question of the long-term effects of such training remains open and requires further study.

Inherited metabolic diseases are a large group of inherited monogenic diseases. Metabolic disorders can cause child disability and mortality. Tandem mass spectrometry is a powerful technology that allows to diagnosis a large number of hereditary metabolic diseases. Clinical manifestations are variable, but more often the damages of nervous system, heart, liver, kidneys, hyperammonemia, hypo/hyperglycemia take place. The disease can make its debut at any age, but the severe forms of the disease manifest at infancy. Early diagnosis and treatment can significantly improve the prognosis; many countries expand the list of diseases included in screening programs. At the beginning of 2021 in most regions of the Russian Federation mass newborn screening is carried out for five hereditary metabolic diseases. The age and the range of clinical manifestation are variable; therefore, knowledge of this pathology is very important both for pediatricians and therapists, and for specialized doctors. The article presents a brief description of next groups of metabolic diseases: aminoacidopathies, organic acidurias and fatty acid oxidation defects.

The aim of this cross-sectional observational study is to determine the contribution of polymorphisms of energy metabolism genes into metabolic disorders in Russian and Buryat adolescents with overweight and obesity. The study included 354 Russian and Buryat adolescents aged 13-18 years. Body mass index and serum levels of glucose, insulin, and leptin were measured and insulin resistance index HOMA-IR was calculated. Molecular genetic analysis for the presence of 9 loci of energy metabolism genes LEP, LEPR, POMC, FTO, and MC4R were analyzed. It was found that the risk of metabolic disorders is associated with the presence of polymorphic loci of leptin receptor gene LEPR and melanocortin receptor gene MC4R (LEPR rs1137100+LEPR rs1137101 and LEPR rs1137100+MC4R rs17782313) in Russian adolescents with overweight and obesity and polymorphisms of the gene FTO (FTO rs9939609+rs8050136) associated with fat mass and obesity in Buryat adolescents.

Obstructive sleep apnea (OSA) is a common sleep-related breathing disorder that increases the risk of cardiovascular disease. Currently, there is a sufficient amount of evidence that OSA increases the risk of cardiovascular diseases, but the mechanisms underlying the formation of these changes remain unclear. The use of Doppler ultrasound and functional stress tests in patients with OSA will make it possible to assess the state of the vascular wall and its changes during treatment. This method can be included in the examination program for patients with sleep-related breathing disorders.

The purpose of this studyis to evaluate the ability of L-tryptophan used in complex therapy of delayed psycho-speech development in children to influence the dynamics of cognitive performance.Materials and methods. The study included 80 children aged 3–7 years with delayed psycho-speech development (DPSD). The main group consisted of 37 children (25 male and 12 female), a control group – 43 patients (30 male and 13 female). Both groups of children were comparable in age, sex, degree of speech and cognitive impairment, and IQ level. Patients in the main group have taken standard therapy with L-tryptophan (25–50 mg per day depending on the age) supplement for 14 days. Control patients have taken standard therapy only. Psychodiagnostic tests at the entrance and exit of patients from this study was carried out for evaluation the dynamics of cognitive functions. All differences were considered significant at p < 0.05.Results. The study suggests that oral L-tryptophan intake selectively affects the dynamics of cognitive performance in children with DPSD. So, we studied pre- and post-treatment cognitive performance in both group patients and noted a significant improvement in the visual memory (p < 0.001) and an increase in thinking productivity (p < 0.001) in the tryptophan group versus similar indicators in the control group. Intergroup differences (p < 0.001 and p = 0.026, respectively, for the main and control groups) also found.Conclusion. Two-week L-tryptophan intake in complex therapy of DPSD in children can significantly improve the cognitive activity, and greatly increase both the effectiveness and sustainability of treatment outcomes, which will significantly reduce the time and frequency of hospitalization and financial costs for the rehabilitation of this patients.

The role of glutathione S-transferase for the life of the cell and the entire organism is related to their participation in the processes of detoxification of xenobiotics and antioxidant protection. Genetic variability of glutathione S-transferases appears in the form of different enzymatic activity of the corresponding protein products. In this study, a comparative analysis was conducted on the frequency of genotypes of three genes in the glutathione S-transferases gene superfamily (GSTM1, GSTT1, GSTP1) from representatives of two ethnic groups, Russian and Buryat. To this end, genetic typing of DNA samples was performed by polymerase chain reaction. Statistically significant differences in the frequency of occurrence of alleles A, B, C of the GSTP1 gene (р = 0.026) were found between the groups of teenagers compared. It was found that the frequency of the allele A, which codes for the active variant enzyme, is significantly higher in the Buryat ethnic group (p = 0.012). The allele B, the product of which is a “slow” version of the enzyme, was significantly more common in the Russian ethnic group (p = 0.014). In the GSTM1 and GSTT1 genes, no statistically significant differences in the frequency of occurrence of “zero” and “functional” genotypes between the compared groups of teenagers were found. However, there was a tendency to increase in the frequency of the “zero” genotype of the GSTM1 gene in the Russian ethnic group. In addition, the frequency of the “zero” genotype in two genes GSTM1 and GSTT1 at once was almost two times higher in the Russian ethnic group than in the Buryat ethnic group.

Using the model of dark stress caused by animal maintenance at dimmed light we showed that Trametin (product obtained during liquid-phase culturing of Trametes pubescens xylotroph fungi) effectively prevented oxidative stress under conditions of light deprivation. The preparation increased the level of unsaturation of lipids, reduced the concentration of primary and end-products of LPO, and increases both the integral parameter of the antioxidant defense system (total antioxidant activity) and its components (activity of superoxide dismutase and reduced glutathione).

We surveyed. 112 adolescents aged 14-17 years. This cohort of children was divided into 3 groups: gifted realized, unrealized and secondary gifted intellectuals. The perinatal course peculiarities influence to development of psychosomatic disorders in gifted students. Perinatal factors such as age of mothers less 30 years, eventfullness of pregnancy and. deviations in child development up to 1 year were found in the students with psychosomatic disorders.

Electroencephalography was performed in 7-8- and 9-10-year-old pupils. Control group consisted of healthy children; experimental group consisted of children without signs of grade IV and V sinus arrhythmia at the age of 7-8 years, but with grade IV and V sinus arrhythmia at the age of 9-10 years. In primary school-aged children (7-8 years), manifestation of marked sinus arrhythmia is associated with disturbances in age-specifi c dynamics of interhemispheric interaction and with the formation, at the initial stage, of a rigid integrated system primarily due to functional intrahemispheric connections, the major contribution being made by the posterior associative cortical areas.