Effect of XRCC1 Arg399Gln Gene Polymorphism on Survival in Lymphoblastic Leukemia.

INTRODUCTION: The relevance of the research of the article is conditioned upon the problem of the development of molecular genetic diagnostics to determine the effectiveness of treatment for acute lymphoblastic leukemia in children. The purpose of the article is to identify the polymorphism parameters of the P53 Arg72Pro and XRCC1 Arg399Gln genes in acute lymphoblastic leukemia with criteria for determining the survival rates of sick children. MATERIALS AND METHODS: Methods for the study of the identified problem are the study of the medical histories of children with acute leukemia, which allowed selection of the necessary contingent of patients for further genetic study of their frozen blood, where the genomic part of deoxyribonucleic acid was isolated from the frozen blood in a standard way using molecular biological research when performing a polymerase chain reaction. RESULTS: The article presents the results of a study that shows that in children with acute lymphoblastic leukemia, the frequency of genotypes of the XRCC1 Arg399Gln gene is variable. The most common genotypes are Arg/Gln and Arg/Arg, approximately 48% each. The Gln/Gln genotype is less common. Relapse-free survival of children with the Arg/Gln and Gln/Gln genotypes was the highest, slightly lower rates were noted with the Arg/Arg genotype. CONCLUSION: It was identified that the frequency of genotypes of the XRCC1 Arg399Gln gene can be a predictor of prognosis in acute lymphocytic leukemia in children, which can be considered when choosing treatment tactics, and this has practical significance for the field of medicine.

The Relationship between Gene Polymorphisms od the XRCC1 and TP53 with the Gender of Children with Acute Leukemia.

BACKGROUND: The relevance of the study lies in the fact that although the role of polymorphism of some genes that are responsible for cell apoptosis and deoxyribonucleic acid repair in the development of acute leukemia has already been established, its relationship with the gender of patients has not been studied enough. This study was aimed at studying the relationship between the Arg399Gln polymorphism in the XRCC1 deoxyribonucleic acid repair gene and the Arg72Pro polymorphism in the TP53 tumor suppressor gene encoding the p53 protein with the gender of children with acute leukemia. MATERIAL AND METHODS: The study included 100 newly diagnosed pediatric patients of Kyrgyz nationality (69 boys and 31 girls), among which there were 77 patients with acute lymphoblastic leukemia, 22 patients with acute myeloblastic leukemia and 1 patient with a biphenotypic variant. Determination of polymorphisms was carried out by PCR-RFLP analysis or polymerase chain reaction followed by an analysis of restriction fragment length polymorphism. The interrelation of the results obtained with the patients' gender was assessed using statistical methods. RESULTS: The study showed that there were no gender differences for all three genotypes of the Arg72Pro polymorphic marker of the tumor suppressor p53 (ТР53). Three Arg399Gln genotypes of the XRCC1 gene also did not depend on gender. However, with a separate analysis of each polymorphism, there was a tendency for a greater proportion of the Arg/Gln genotype in the group of boys compared to girls. The Gln/Gln polymorphism relationship requires further study due to insufficient data for analysis. CONCLUSION: The study has expanded the understanding of genetic changes and their relationship with gender, which have diagnostic, prognostic and therapeutic implications in acute leukemia. The conducted research of the relationship between individual phenotypes of acute lymphoblastic leukemia with risky polymorphisms in some genes contributes to the study of AL.

Cryptogenic Stroke In The Context of Pandemic-Related Stress: The Role of Arterial Hemodynamics.

BACKGROUND: Up to 45% of ischemic strokes are cryptogenic, which is an impediment to proposing preventative measures. In this investigation we aimed to study underlying heart arrhythmias in patients with cryptogenic stroke, taking into consideration the context of the COVID-19 pandemic and stressful lockdown conditions. SUBJECTS AND METHODS: In this cross-sectional study we observed 52 patients with cryptogenic stroke >1 month after acute presentation, and a control group consisting of 88 patients without stroke. All patients undewent the laboratory and instrumental investigation consisting of the following: lipid spectrum; hemostasiograms; hemoglobin A1c; transthoracic or/and transesophageal echocardiography; 24-hours monitoring of ECG; computer tomography or magnetic resonance imaging of the brain. We studied the hemodynamics of the common carotid arteries using Doppler ultrasound imaging and digital sphygmography (SG). RESULTS: The groups were indentical with respect to the preponderance of study parameters (sex, age, comorbidities, instrumental and laboratory data). The ischemic stroke group had a statistically significant difference in the prevalence of the first type of extrasystolic arrhythmia according to our gradation of extrasystoles, which are ventricular systoles of extrasystolic contraction appearing before the transmitral blood flow peak (peak E in echocardiography). We observed that earlier ventricular systoles of extrasystole in the cardiac cycle predicted for greater growth of hemodynamic and kinetic parameters. Calculating the indices of a four-field table established the significant relationship between the moment of appearance of extrasystolic ventricular contraction in the cardiac cycle and the risk for cryptogenic stroke (normalized value of the Pearson coefficient (C`) of the two paramaters was 0.318). CONCLUSIONS: Extrasystolic arrhythmia appeared as an additional risk factor of earlier stroke. The most dangerous type of arrhythmia was when the ventricular contraction of the extrasystole appeared before the transmitral blood flow peak in the cardiac cycle. This observation could present a risk-marker for brain-related cardiovascular complications such as stroke, which might be patients suffering from different internal diseases, especially in the context of environmental stress conditions of the current pandemic and its related lockdown measures.