Background ― Genetic polymorphisms analysis of metabolic and antioxidant systems pathway genes are associated with male infertility is the most perspective and developed field in andrology. Purpose ― the aim of the research is to reveal the association of the glutathione S-transferase gene GSTP1 polymorphism C/T (rs1138272) with risk of pathospermia in Russian men in Moscow region. Material and Methods ― Case control study was conducted on 68 fertile men and 70 infertile men with various forms of pathospermia. Sperm analysis was performed according to WHO guidelines (WHO, 2010). DNA was extracted from peripheral blood leukocytes. Genotyping of the GSTP1 gene polymorphisms was carried out by generated amplicons from melting curve analysis after real time PCR. Results ― statistically significant association of polymorphism GSTP1 C/T (Ala/Val; rs1138272) with asthenozoospermia (χ2=8.58, p=0.003) and teratospermia (χ2=6.81, p=0.009) risk was found. The frequencies of homozygous and heterozygous carries (CT+TT genotypes) for polymorphic locus GSTP1 gene (rs1138272) are 3 times higher for men with disturbance of motility of spermatozoa and 2.5 times higher for men with abnormalities in morphology of spermatozoa, then for men with normozoospermia. Conclusion ― The GSTP1 C>T polymorphism (rs1138272) associated with risk of teratospermia and asthenozoospermia in male of reproductive age.
The relevance of the research is determined by the rapid development of the information society and the growing need to receive new information. The research aims to consider information coverage tools, as well as to reveal their role and place in the system of information space. The conducted research enabled to determine the role and place of information coverage tools in the information space. The authors formulated the definitions of the phenomena "information space" and "information coverage". The role of the press service as an information coverage tool was studied in detail, as well as the interdependent effectiveness of information coverage of events in the mass media and mass communication which takes into account the interests of target audiences. The research findings can be used in the organization of news coverage, the work of press services, as well as public and commercial public relations departments.
Results: Serum OPG concentrations increased throughout the study period (p = 7.26x10 -5 ) while RANKL concentrations did not change (p = 0.19). The OPG:RANKL ratio exhibited a 6.2-fold increase between Days 1 and 5. CTX-1 concentrations were lower (p = 0.006) 30 minutes after the 50 U/kg FVIII infusion. CTX-1 response for each participant was assessed using linear regression throughout the time course. Spine L1-L4 Z-score (SZ) and Hip Total Z-score (HTZ) correlate with CTX-1 response (p = 3.4x10 -4 and 0.014, respectively). The mean age of participants was 25.2 ± 2.1 at time of first study visit. Participants had a mean SZ of −0.74 ± 0.34, HTZ of −0.17 ± 0.32, Hip Neck Z-score (HNZ) of −0.16 ± 0.35, and HJHS of 20 ± 5. HTZ and HNZ decreased significantly with patient age (p = 0.027 and 0.032) while SZ and HJHS did not (p = 0.18 and 0.16). Consequently, age correction was applied to BMD comparisons. Statistical comparisons between HAL, EQ-5D-3L, and BHQ answers, BMD data, and HJHS are shown in Table 1. Summary/Conclusion: This prospective study demonstrates a relationship between FVIII deficiency and bone disease in PwH. OPG acts as a decoy ligand to RANKL, inhibiting osteoclastic bone resorption. The observed increase in OPG:RANKL ratio suggests FVIII has a direct impact on this pathway. Decreased CTX-1 concentrations following factor infusion and correlations between CTX-1 response and BMD further suggests that FVIII plays a role in moderating bone remodeling. Hemophilia-associated bone and joint pathology is associated with decreased quality of life. Correlations between BMD and questionnaire responses demonstrate that poor bone and joint health is physically limiting, causes discomfort, and negatively impacts perceptions of personal well-being. Furthermore, correlations between BMD and HJHS and ISTH-BAT responses (Table 1) illustrate a relationship between bleeding management and skeletal health. PwH with lower BMD report more nose and gum bleeds, suggesting a link between FVIII replacement and skeletal health. Bleeds in the extremities were not correlated with decreased BMD or increased HJHS, but abdominal (stomach, iliopsoas) and other bleeds were. Analysis of these data is ongoing.
Background:Kawasaki disease (KD) is a multifactorial disease with a genetic predisposition, systemic vasculitis complicated by the formation of coronary artery aneurysms (CAA). Its pathogenesis is based on immune inflammation with an increase in the concentration of pro-inflammatory cytokines, the level of C-reactive protein (CRP), and coagulation disorder.Objectives:to search for polymorphisms of genes cluster of differentiation CD14, CRP, fibrinogen beta chain (FGB), associated with the KD development and a predisposition to the CAA formation among patients with KD living in Moscow and the Moscow region.Methods:genotyping for gene polymorphisms CD14 –159 C>T (rs2569190), CRP 3872 C>T (rs1205), FGB – 455 G>A (rs1800790) by PCR in 31 children 1 month – 10 years old (median age 19 months [9,0; 38,5]) with KD, among them, in 10 patients the disease was complicated by CAA formation according to echocardiography, and 30 children of the control group.Results:Three out of six investigated SNPs showed statistically significant difference in genotype and allele distribution: СRP C3872T, CD14 C159T and FGB G455A. CRP gene polymorphism: in patients with KD significantly less frequent is homozygous type TT (RR 0,22, 95% CI: 0,05–0,91, p=0,0168).CD14 gene polymorphism: in control group heterozygous genotype CT is predominant, (RR 0,58, 95% CI: 0,4–0,83, p=0,0017) among patients with KD homozygous genotypes CC and TT are predominant. (RR 3,61, 95% CI: 1,14–11,49, p=0,0057).FGB gene polymorphism: genotype GA is predominant in control group (RR 0,48, 95% CI: 0,26–0,9, p=0,0149). In patients with KD significantly less frequent is homozygous type GG (RR 1,69, 95% CI: 1,03–2,8, p=0,0297).We didn’t find any significant difference in genotype and allele distribution in KD patients with and without CA lesions.Conclusion:statistically significant differences (p<0,05) were revealed in the distribution of genotypes for polymorphisms of the CD14 –159 C>T, CRP 3872 C>T and FGB –455 G>A genes among patients with KD and children of the control group; when comparing the results of KD patients with CAA and the control group, statistically significant differences (p<0,05) were revealed only in the polymorphism CD14 –159 C>T. It can be assumed that these polymorphisms are associated with the development of KD and CAA in these patients.Disclosure of Interests:None declared
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