In Africa, the prevalence of diabetes is escalating and remains a concern due to the numerous complications it causes. Vascular damage associated with diabetes leads to a prothrombotic state observed in diabetic indiv...In Africa, the prevalence of diabetes is escalating and remains a concern due to the numerous complications it causes. Vascular damage associated with diabetes leads to a prothrombotic state observed in diabetic individuals. Diabetes is a complex and multifactorial disease involving genetic components. With the aim of preventing complications and contributing to an efficient management of diabetes, we investigated genes likely to lead to a risk of thrombosis, in particular the C677T of MTHFR, G20210A of prothrombin, and R506Q of factor V Leiden in type 2 diabetics in Abidjan receiving ambulatory care. A descriptive cross-sectional study was carried out on consenting type 2 diabetic patients. Mutation detection was carried out using the PCR-RFLP method employing restriction enzymes. Hemostasis tests (fibrinogen, D-dimers, fibrin monomers, and von Willebrand factor) were performed using citrate tubes on the Stage? Star Max automated system. Plasminogen activator inhibitor was assayed by ELISA method, and biochemical parameters were determined using the COBAS C311. The study population consisted of 45 diabetic patients, 51.1% of whom presented vascular complications, mainly neuropathy. Disturbances in hemostasis parameters were observed, with 15.5% of patients showing an increase in fibrin monomers. Mutation analysis revealed an absence of factor V mutation (factor V Leiden) and of G20210A mutation of the prothrombin gene. However, 15.6% of subjects had a heterozygous C677T mutation of MTHFR, with 57% of them being anemic. The exploration of biological and genetic factors associated with thrombotic risk is of significant interest in the optimal management of African type 2 diabetics.展开更多
AIM： To analyze the prevalence of the two commonest thrombophilic mutations, factor V Leiden and prothrombin G20210A, in patients with gastric cancer. METHODS： One hundred and twenty-one patients with primary gastri...AIM： To analyze the prevalence of the two commonest thrombophilic mutations, factor V Leiden and prothrombin G20210A, in patients with gastric cancer. METHODS： One hundred and twenty-one patients with primary gastric carcinoma and 130 healthy subjects, comparable for age and sex, were investigated. Factor V Leiden was detected by using polymerase chain reaction and restriction enzyme digestion, and prothrombin G20210A gene mutation by allele-specific PCR. RESULTS： Among the 121 cancer patients, factor V Leiden was found in 4 cases （GA genotype： 3.3%） and prothrombin G20210A in 10 cases （GA genotype： 8.3%）. Of the 130 control subjects, factor V Leiden was detected in 6 cases （GA genotype： 4.6%） and prothrombin G20210A in 8 cases （GA genotype： 6.1%）. No double heterozygous carriers of both mutations were found in either group. The prevalence of both factor V Leiden and prothrombin G20210A variant was not statistically different between the cancer patients and the healthy subjects. CONCLUSION： Our study suggests that, in gastric cancer, the risk factors of thrombophilic cancer state are on acquired rather than on a genetic basis and that prothrombin G20210A does not seem to be a cofactor in gastric cancer pathogenesis.展开更多
Objective: We assessed the prevalence of inherited (FV-Leiden and PRT G20210A), and acquired (anti-PL antibodies) risk factors among habitual aborters in Tunisia. Study design: We studied prospectively 146 patients wi...Objective: We assessed the prevalence of inherited (FV-Leiden and PRT G20210A), and acquired (anti-PL antibodies) risk factors among habitual aborters in Tunisia. Study design: We studied prospectively 146 patients with ≥3 consecutive early, late, or early-late recurrent pregnancy losses, together with 99 age-matched controls. Anticardiolipin antibodies (ACL), lupus anticoagulant (LA), and APC resistance (APCR) were detected by ELISA, dilute Russell Viper Venom Time (dRVVT), and coagulation tests, respectively, and FV-Leiden and PRT G20210A genotypes were assessed by PCR. Results: Anti-PL antibody frequencies were 45%and 9%among patients and controls, respectively (P < 0.001), with positive LA only (P = 0.004), or combined elevated ACL-positive LA being consistently higher (P < 0.001) among patients than controls. FV-Leiden (20.54%versus 6.06%), but not PRT G20210A (2.74%versus 4.04%) was significantly higher in patients versus controls. Among LA-positive cases higher prevalence of G/A (14/146 versus 1/99) and A/A genotypes (4/146 versus 0/99) were seen, and among ACL-positive cases higher prevalence of G/A (10/146 versus 0/99) and A/A genotypes (2/146 versus 0/99) were recorded. Conclusions: Anti-PL antibodies and FV-Leiden, but not PRT G20210A, are associated with recurrent idiopathic pregnancy losses in Tunisian women.展开更多
文摘In Africa, the prevalence of diabetes is escalating and remains a concern due to the numerous complications it causes. Vascular damage associated with diabetes leads to a prothrombotic state observed in diabetic individuals. Diabetes is a complex and multifactorial disease involving genetic components. With the aim of preventing complications and contributing to an efficient management of diabetes, we investigated genes likely to lead to a risk of thrombosis, in particular the C677T of MTHFR, G20210A of prothrombin, and R506Q of factor V Leiden in type 2 diabetics in Abidjan receiving ambulatory care. A descriptive cross-sectional study was carried out on consenting type 2 diabetic patients. Mutation detection was carried out using the PCR-RFLP method employing restriction enzymes. Hemostasis tests (fibrinogen, D-dimers, fibrin monomers, and von Willebrand factor) were performed using citrate tubes on the Stage? Star Max automated system. Plasminogen activator inhibitor was assayed by ELISA method, and biochemical parameters were determined using the COBAS C311. The study population consisted of 45 diabetic patients, 51.1% of whom presented vascular complications, mainly neuropathy. Disturbances in hemostasis parameters were observed, with 15.5% of patients showing an increase in fibrin monomers. Mutation analysis revealed an absence of factor V mutation (factor V Leiden) and of G20210A mutation of the prothrombin gene. However, 15.6% of subjects had a heterozygous C677T mutation of MTHFR, with 57% of them being anemic. The exploration of biological and genetic factors associated with thrombotic risk is of significant interest in the optimal management of African type 2 diabetics.
基金Supported by a Research Grant from the University of Siena (PAR)
文摘AIM： To analyze the prevalence of the two commonest thrombophilic mutations, factor V Leiden and prothrombin G20210A, in patients with gastric cancer. METHODS： One hundred and twenty-one patients with primary gastric carcinoma and 130 healthy subjects, comparable for age and sex, were investigated. Factor V Leiden was detected by using polymerase chain reaction and restriction enzyme digestion, and prothrombin G20210A gene mutation by allele-specific PCR. RESULTS： Among the 121 cancer patients, factor V Leiden was found in 4 cases （GA genotype： 3.3%） and prothrombin G20210A in 10 cases （GA genotype： 8.3%）. Of the 130 control subjects, factor V Leiden was detected in 6 cases （GA genotype： 4.6%） and prothrombin G20210A in 8 cases （GA genotype： 6.1%）. No double heterozygous carriers of both mutations were found in either group. The prevalence of both factor V Leiden and prothrombin G20210A variant was not statistically different between the cancer patients and the healthy subjects. CONCLUSION： Our study suggests that, in gastric cancer, the risk factors of thrombophilic cancer state are on acquired rather than on a genetic basis and that prothrombin G20210A does not seem to be a cofactor in gastric cancer pathogenesis.
文摘Objective: We assessed the prevalence of inherited (FV-Leiden and PRT G20210A), and acquired (anti-PL antibodies) risk factors among habitual aborters in Tunisia. Study design: We studied prospectively 146 patients with ≥3 consecutive early, late, or early-late recurrent pregnancy losses, together with 99 age-matched controls. Anticardiolipin antibodies (ACL), lupus anticoagulant (LA), and APC resistance (APCR) were detected by ELISA, dilute Russell Viper Venom Time (dRVVT), and coagulation tests, respectively, and FV-Leiden and PRT G20210A genotypes were assessed by PCR. Results: Anti-PL antibody frequencies were 45%and 9%among patients and controls, respectively (P < 0.001), with positive LA only (P = 0.004), or combined elevated ACL-positive LA being consistently higher (P < 0.001) among patients than controls. FV-Leiden (20.54%versus 6.06%), but not PRT G20210A (2.74%versus 4.04%) was significantly higher in patients versus controls. Among LA-positive cases higher prevalence of G/A (14/146 versus 1/99) and A/A genotypes (4/146 versus 0/99) were seen, and among ACL-positive cases higher prevalence of G/A (10/146 versus 0/99) and A/A genotypes (2/146 versus 0/99) were recorded. Conclusions: Anti-PL antibodies and FV-Leiden, but not PRT G20210A, are associated with recurrent idiopathic pregnancy losses in Tunisian women.
