Glutathione S-transferase polymorphism in ethnic groups living in Eastern Siberia

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

Assessment of reference intervals of acylcarnitines in newborns in Siberia

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

Inherited metabolic diseases: aminoacidopathies, organic acidemia, defects of mitochondrial β-oxidation. A brief overview

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

SOME ASPECTS OF THE HEALTH STATUS OF GIFTED SCHOOL CHILDREN

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

Prevalence of sleep disorders in teenage girls in Irkutsk (questionnaire data)

Background. Adequate sleep ensures a person’s physical and psycho-emotional well-being. Adolescence is one of the critical stages of life. The exclusive attention of specialists and leveling the impact of adverse factors on the body during this period is the key to the proper development and preservation of the health of adolescents. Meanwhile, sleep problems in teenage girls remain poorly understood.The aim. To study the features of the sleep regime and quality of sleep of teenage girls in the city of Irkutsk.Materials and methods. A survey of 422 teenage girls in the city of Irkutsk was conducted using a translated version of a questionnaire about adolescent sleep habits to subjectively assess their sleep and wakefulness. Two groups were formed: group I – girls with sleep problems (n = 171); group II – girls without sleep problems (n = 251).Results. Sleep disorders among teenage girls in the city of Irkutsk occurred with a frequency of 40.52 %. In most cases, a complex effect of various unfavorable factors on the sleep process has been identified. The adolescents with sleep disorders we  examined were characterized by higher rates of sleep latency, later bedtime, earlier awakening, decreased time of night sleep, as well as changes in the sleep shift indicator towards its increase. These violations were noted both on weekdays and on weekends.Conclusions. Sleep problems were reported in 40.52% of respondents. The complex impact of various unfavorable factors on sleep quality has been revealed. The features of sleep hygiene of teenage girls are reflected. The group of girls with sleep problems was characterized by increased sleep latency, later bedtime, earlier awakening, reduced sleep time, and an increase in sleep shift

PREDICTING THE RISK OF PROTHROMBOTIC CHANGES IN ADOLESCENTS WITH ESSENTIAL HYPERTENSION

Today, the problem of early diagnosis of hematological changes predisposing to the development of thrombotic complications in patients with essential hypertension (EH) is an urgent problem that requires close attention not only of physicians, but also of pediatricians. The aim of the study was the development of prognostic criteria for risk of prothrombotic changes (PC) in adolescents with EH, timely preventive measures and prevention of thrombotic complications. Sixty adolescents with EH without PC and 37 adolescents with EH and PC were examined. We used the following methods: clinical anamnestic (including genealogy), functional and ultrasound, laboratory, mathematical and statistical. To create a mathematical model of forecasting, discriminant analysis was used, with the help of which from the 59 proposed predictors the algorithm selected 8 most informative features: the C777T polymorphism of the 5,10-methylenetetrahydrofolate reductase gene, the A66G gene of the methionine synthase reductase gene, the daily diastolic blood pressure level, the level of the nocturnal systolic arterial pressure-time index of hypertension, systolic blood pressure during the day, weighed down by thrombotic genealogically history, early onset of thrombosis, burdened thrombotic genealogical history. Our method for predicting the risk of developing PC allows to place adolescents with EH having an increased risk of developing these coagulation shifts in a separate group, to identify thrombogenic risk in adolescence and, if necessary, to initiate preventive measures in time to reduce the incidence of thrombotic complications of EH and mortality of patients

Comprehensive rehabilitation of patients with movement disorders with spastic forms of cerebral palsy

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

Comorbid disease in children and adolescents with perinatal HIV infection: A pilot study

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

Влияние применения L-триптофана на динамику когнитивных функций в комплексной терапии задержек психоречевого развития у детей

The purpose of this study is 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. Цель исследования – оценка способности L-триптофана, применяемого в комплексной терапии задержек психоречевого развития у детей, влиять на динамику показателей когнитивной деятельности.Материалы и методы. В исследование включены 80 детей в возрасте 3–7 лет с задержкой психоречевого развития (ЗПРР). Основную группу составили 37 детей (25 мальчиков и 12 девочек), контрольную группу – 43 пациента (30 мальчиков и 13 девочек). Обе группы детей были сопоставимы по полу, возрасту, степени речевой и когнитивной недостаточности, уровню интеллекта. Пациентами основной группы на фоне стандартной терапии дополнительно осуществлялся прием L-триптофана в суточной дозе 25–50 мг/кг в зависимости от возраста в течение 14 дней. Пациенты контрольной группы были пролечены только по стандартной схеме терапии ЗПРР. Оценка динамики когнитивных функций проводилась с помощью психодиагностических тестов на входе и выходе пациентов из данного исследования. Значимость различий рассчитывали с учетом критического значения p < 0,05.Результаты. В результате проведения исследования были получены данные о том, что триптофан избирательно влияет на динамику показателей когнитивной деятельности при задержках психоречевого развития у детей. Так, при исследовании состояния когнитивных функций у детей с ЗПРР до и после курса терапии, включающей прием L-триптофана, отмечены значительное улучшение зрительной памяти (p < 0,001) и повышение продуктивности мышления (p < 0,001) относительно аналогичных показателей пациентов, пролеченных без дополнительной фармакологической нагрузки данным препаратом. При этом достоверные отличия выявлены и при межгрупповом сравнении результатов лечения (p < 0,001 и p = 0,026 соответственно для основной и контрольной групп).Заключение. Следовательно, введение L-триптофана в комплексную терапию ЗПРР у детей способно заметно улучшить состояние когнитивной деятельности и значительно повысить как эффективность, так и устойчивость результатов лечения, что позволит существенно сократить сроки и кратность госпитализации и финансовые издержки на реабилитацию данной категории пациентов.