Risk Factors in Children With Acute Cerebral Circulation Disorders by Ischemic Type

Ross. ž. det. gematol. onkol.

Ясафова³

et al. 2021

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Aim of the study – to establish the features of inheritance of the F5L:G(1961)A and F2:G(20210)A genotypes and to assess their influence on the course and outcomes of pregnancy.Materials and methods. The object of the study was 70 mother–child pairs: 50 women, carriers of the F5L:G(1961)A mutation, and their children; 20 female patients, carriers of the F2:G(20210)A mutation, their children. Additionally, 18 families of women, carriers of the factor V Leiden mutation, in three generations were studied.Results. Carriage of the F5:(1961)GA and F2:(20210)GA genotypes in fetuses is associated with the risk of developing gestational complications in their mothers, which are primarily realized when the maternal laboratory phenotype is manifested. A higher frequency of occurrence of the minor allele A20210 of the FII gene was determined in children than in the older generation (p = 0,0006).

Section: удельный весunclassified

Features of the course of the gestational process with the carriage of genotypes F5L:G(1961)A and F2:G(20210)A and inheritance options

Николаева

Ross. ž. det. gematol. onkol.

Ясафова³

et al. 2021

Self Cite

Genetic predictors of vascular complications in adolescents involved in sports

Snigir²,

Lobanov

et al. 2020

RPJ

Introduction. The urgency of the problem is because the carriage of genetic predictors of thrombogenic risk in adolescents can be a significant factor in the formation of arterial and venous thromboses, leading to disability and even death, especially after significant sports overloads. Materials and methods. DNA genotyping was carried out in 259 boys aged 14 to 17 years who were professionally involved in sports for a long time. The reference group consisted of 228 students who were not additionally involved in sports sections at the age of 14-17 years of I-II health groups. Genetic testing was performed using the Real-Time PCR method using competing TagMan probes. 12 genetic allelic DNA polymorphisms were studied. The analysis of laboratory and instrumental methods of research. The results were statistically processed using the STATISTICA 10.0 software package. Results. Among adolescent athletes, a group of children with a high risk of vascular complications was identified on the basis of the studied thrombogenic DNA polymorphisms and folate metabolism genes. The frequency of the minor C1565 allele of the GPIIIa gene was significantly more often determined in adolescent athletes, while the variant of the minor 4G allele (-675) of the PAI-I gene was significantly more often detected in relatively healthy schoolchildren. The heterozygous genotype 1565 TC of the GPIIIa gene, the heterozygous genotype 1298 of the AC MTHFR gene, and the heterozygous genotype 66 AG of the methionine synthase reductase gene (MTRR) were found to be more pronounced in adolescent athletes. The frequency of associations of 4 (17.4%), 5 (28.6%), 6 (25.8%), 7 (10.8%) and 8 (5.4%) genetic polymorphisms was significantly increased in adolescent athletes, which may have pathogenetic significance. Moreover, in athletes, combinations of C677T polymorphisms of the MTHFR gene, 4G (-675) 5G of the PAI-I gene, G (-455) A of the FGB gene were unfavorable for the implementation of vascular lesions. Conclusion. For the first time, criteria have been formulated for the selection of teenage athletes in the high-risk group for vascular complications, taking into account genetic factors. It has been established that the most informative predictors of the risk of vascular complications are the variants of the GPIIIa T1565C, MTRR A66G genes, and gene gene associations of polymorphisms.

Screening of thrombogenic risk factors in children in the Altai krai

Ponomarev

Скударнов

et al. 2023

RPJ

Introduction. One of the urgent problems of modern pediatrics is the risk of developing vascular complications in children, among which thrombosis is not uncommon. For early diagnosis and thromboprophylaxis of strokes and other vascular complications, the identification of thrombogenic risk factors is indicated. The purpose of the study. Based on the screening, to establish predictors of thrombogenic risk in children living in urban and rural areas of the Altai Territory for the timely prevention of vascular complications. Materials and methods. The results of a screening study of two hundred seventeen aged 12–17 years children living in the city of Barnaul, Zarinsk and Klyuchevsk districts of the Altai Territory, were analyzed. Screening examination of children without signs of thrombosis and bleeding was carried out at an outpatient appointment with a pediatrician in random sampling. The questionnaire included questions to clarify the family thrombotic history, personal thrombotic history, background somatic diseases. Clinical examination was performed for all interviewed patients. Results. According to the results of the study, it was revealed that in 65 (30%) of the 217 children surveyed, the closest relatives had thrombogenic risk factors, such as heart attacks, strokes, hypertension, coronary heart disease (CHD). After analyzing the personal thrombotic history, it was found that in the general group of patients, myocardial infarction was observed in 2 (0.9%) children. Strokes were noted in 5 (2.3%) respondents, and thrombosis and TIA in 2 (0.9%) subjects. When analyzing the results, it was found that a significant proportion of children had the following conditions, such as vegetative-vascular dystonia (VVD) of the hypertensive type, the presence of signs of undifferentiated connective tissue dysplasia (UCTD), smoking, obesity. Conclusion. According to screening data in children, the main predisposing factors in the development of thrombosis, strokes and heart attacks are a burdened family, thrombotic history, the presence of some somatic diseases. The combination of these factors justifies the need for additional examination for the prevention of vascular thrombosis.