Prevalence of thrombophilic gene polymorphisms [FVL G1691A and MTHFR C677T] in patients with myocardial infarction

Inherited thrombophilia may be caused by mutations, polymorphisms in a variety of genes mainly involved in haemostatic pathways was to find the prevalence of thrombophilic gene factor V Leiden [FVL] and methylene tetrahydrofolate reductase [MTHFR] gene polymorphism in patients with myocardial infarction [MI], aiming at early diagnostic methods and guiding preventive procedures. This study was carried on 30 patients who survived their first MI as compared to 15 healthy volunteers. Patients and controls were subjected to history, physical examination. Factor VL G1691A and MTHFR C677T genotypes were determined by RT PCR. The prevalence of heterozygous FVL GA genotype was significantly higher among MI patients as compared to the control group. The prevalence of mutant homozygous AA was significantly higher in MI patients as compared to control. The low risk cases had a higher frequency of GA genotype as compared to high risk cases. As regards MTHFR C677T gene polymorphism, the prevalence of heterozygous MTHFR C677T CT genotype showed significant increase in MI patients compared with the control group. The prevalence of mutant homozygous TT genotype was significantly higher in MI patients as compared to the control group. The low risk cases had a higher frequency of heterozygous MTHFR C677T CT genotype than high risk cases The prevalence of heterozygous [FVL G1691 A] and MTHFR C677T gene polymorphisms was significantly increased in MI patients compared with the control group and these gene polymorphisms are probably risk factors for myocardial infarction among Egyptian cases especially if integrated with other environmental and genetic risk factors. We recommended screening high risk patients for this polymorphism and the use of specific thromboprophylaxis to prevent recurrent thrombotic disease

Alpha-glutathione S-transferase and serum aminotransferases in Schistosomiasis mansoni patients with or without hepatitis C virus

The present study evaluated delta-Glutathione-S-transferase as a biochemical marker for hepatocellular damage in schistosomiasis mansoni patients, with or without chronic hepatitis C [HCV] patients as compared to controls. Alpha GST, ALT and AST were assayed in sera of GI: 20 schistosomiasis mansoni patients with HCV, GII 16 schistosomiasis mansoni patients without HCV, GIII 19 pure HCV patients and GIV: 20 normal controls. The results showed that delta-Glutathione-S-transf erase was less sensitive and less specific but more accurate than ALT and AST as a liver affection marker in HCV patients

Monitoring and optimizing the dose response relationship of erythropoietin in haemodialysis patients

Renal disease is characterized by failure of erythropoietin production and low bone marrow sensitivity to erythropoietin. Renal anemia is repidly corrected by recombinant human erythropoietin therapy but the dose required varies greatly [Lind et al., 1997]. In this study, the erythropoietin doses required for the treatment of anemia of renal failure were monitored and optimized by using the recent flow cytometric reticulocyte analysis and testing the parameters of bone marrow response to different erythropoietin doses. This work was carried out on forty patients, with recent onset of haemodialysis for end stage renal disease without any history of previous erythropoietin therapy. After exclusion of common causes that may cause resistance to erythropoietin [EPO] therapy like iron deficiency, blood loss, hyperparathyroidism and aluminum toxicity, the patients were divided into two groups: Group A and group B. Group A had 10 patients who received non-erythropoietin bone marrow stimulants in the from of anabolic steroids. And group B had 30 patients which were further subdivided into three subgroups I/II and III and received EPO therapy at a dose of 30, 40 and 50 I.U/Kg BW S.C. times/week respectively. All the patients were investigated by doing: s. PTH, s. iron indices/ s. Aluminum, blood indices, uper endoscopy, stool analysis for occult blood and flow cytometric determination of RMI. Administration of non-erythropoietin bone marrow stimulants in the form of anabolic steroids in group A showed insignificant increase in Hb%/ reticulocyte maturity index [RMI] and absolute reticulocyte count [ARC]. EPO therapy in the doses of 30/ 40 and 50 I.V/Kg body weight thrice/week S.C [group B I/ II and III respectively] showed a significant increase in Hb% on the 2nd and 3rd month from the begining of the study. So, administration of recombinant human EPO in pharmacological quantities enabled a more efficient therapy of ESRD-induced anemia and significantly reducing the need for blood transfusion