Angiotensin converting enzyme I/D polymorphism in Egyptian patients with type 2 diabetes mellitus

The deletion [D] allele of the angiotensin-I converting enzyme [ACE] is associated with higher ACE activity, it has been studied in various populations in relation lo hypertension and type 2 diabetes mellitus [DM] with contradictory results. The objective of this study was to determine the ACE insertion/deletion polymorphism, genotype distribution in Egyptian patients with type 2 DM and to evaluate the possible association of ACE insertion/deletion polymorphism with hypertension in diabetic patients. A total of 48 patients with type 2 DM, 23 of them had hypertension and 21 healthy subjects age and sex matched with the patients, as control group were included in this study. Genotyping was performed by polymerase chain reaction [PCR]. The frequency of DD genotype was significantly higher in diabetic patients compared to controls [p=0.008]. The DD genotype [Vs DI and II genotypes] was associated with increased risk of diabetes [OR: 3.647, 95% CI: 1.235-10.773, p=0.016] and the D allele was more frequent in diabetic patients and was associated with increased risk of diabetes [OR: 3.939, 95% CI: 1.782-8.709, p<0.001]. No significant difference in genotype distribution or allele frequency was detected between diabetic patients with and without hypertension. We can conclude that a significant association between ACE gene I/D polymorphism and type 2 DM is present in Egyptian patients and the D allele is associated with increased risk for type 2 DM

study of chemokine receptor "CCXCR4" expression as an indicator for significant extramedullary organ infiltration in childhood acute lymphoblastic leukemia

CXCR4 is a G-protein linked seven transmembrane spanning chemokine receptor that binds stromal cell-derived factor-1 [SDF-1]. CXCR4 plays a crucial role in the survival and trafficking of leukemia cells. Childhood acute lymphoblastic leukemia [ALL] is a malignancy with the potential to infiltrate the liver, spleen, lymph nodes and brain. Such extramedullary presentation is important for understanding the biology of childhood ALL and also for developing new prognostic parameters. A potent mechanism in the trafficking of leukemia cells is in the interaction of the chemokine receptor CXCR4, which is expressed on ALL cells and its ligand stromal cell-derived factor-1 [SDF-1], produced by stromal cells in bone marrow and extramedullary organs. To evaluate the predictive value of high expression of CXCR4 receptor for extramedullary organ infiltration in childhood ALL. The study was conducted on 32 patients with newly diagnosed ALL and 15 healthy children as a control. The 32 studied patients were 18 males [56.3%] and 14 females [43.8%], age ranged from 1.7 years to 17 years, with a mean value of 6.18 +/- 4.38 years. Significant extramedullary organ infiltration was found in 8 patients [25%]. Flowcytometric analysis was used to measure CXCR4 expression on bone marrow lymphoblasts in ALL patients, and on normal peripheral blood lymphocytes in control subjects. CXCR4 expression was statistically significantly higher [p<0.001] in patients compared with control group CXCR4 expression with extramedullary organ infiltration [mean: 56.47 +/- 20.54], when compared with patients without significant extramedullary organ infiltration [mean: 20.58 +/- 7.42]. High expression of CXCR4 receptor has a predictive value for extramedullary organ infiltration in childhood ALL. Pharmacological agents affecting CXCR4 may have a potential therapeutic effect in the management and outcome of the disease

Prognostic value of cardiac troponin I and left ventricular geometry in pediatric chronic hemodialysis: a one year follow up study

Increase in left ventricular mass index [LVMI] is associated with an increase in the incident risk of fatal and nonfatal cardiovascular events in chronic renal failure [CRF]. Cardiac troponin I [cTnl] has been shown to be specific for myocardial damage in chronic dialysis patients. To assess LVMI and cTnI in pediatric patients with CRF on chronic hemodialysis [HD] and to determine their relation to dialytic hypotensive episodes as well as mortality over a period of one year. A prospective follow up study was conducted on 30 pediatric patients with CRF on chronic regular HD with a mean age [10.3 +/- 3.04 years]. Cases were subjected to clinical evaluation, 2-D, M-mode, pulsed and color Doppler echocardiography. Calculation of left ventricular mass [LVM] and LVMI were done. Assessment of cTnI using one-step serum immunoassay test was performed. Cases were clinically followed up for 1 year for dialytic hypotensive episodes and mortality. LVMI was increased in 20 cases [66.7%]. Concentric hypertrophy was present in 13 patients and eccentric hypertrophy was detected in 7 patients. Another six cases had concentric remodeling. All cases were negative for cTnl. There was a statistically significant difference between CRF patients with LVH and those with normal LVM as regards pH, HCO3 and left ventricular posterior wall thickness [LVPW] [p<0.05]. A positive correlation markedly approaching significance was found between fractional shortening [FS] and body mass index [BMI] [r=0.35. p=0.05]. Mortality was 10% and hypotensive episodes occurred in 13.3% of the cases. The positive predictive value of LVMI to mortality was 28.6%, negative predictive value 95.7% with 81.5% specificity and 66.7 +/- sensitivity. Low FS was an excellent predictor of mortality in the studied cases with positive predictive value 100 +/- , and negative predictive value 96.4% with 100% specificity and 66.7% sensitivity. Normal cardiac Troponin I does not preclude cardiovascular risk in chronic hemodialysis patients. Increased LVMI and low FS are useful predictors of mortality in chronic pediatric hemodialysis patients

Thalassemia intermedia and prevalence of anti-hepatitis C antibodies and other hepatitis markers

This study aimed to find out the prevalence of anti-hepatitis C virus antibodies [anti-HCVAb] and hepatitis B virus [HBV] markers in children with TI and their relation with age, sex, the number of blood units transfused and ferritin level in addition to determining the infection's effects or liver functions. Twenty-eight patients [13 males and 15 females] suffering from TI with a mean age 11.7 +/- 4.9 years were compared with 15 healthy children of the same age and sex. Complete blood count, hemoglobin electrophoresis, liver and kidney functions tests and ferritin level were done in addition to assessment of anti-hepatitis C antibodies [anti-HCVAb], hepatitis B surface antibodies [anti-HBcAb] by ELISA technique. In conclusion, HCV infection might be the cause of morbidity among the occasionally blood transfused thalassemia inter- media patients, even with their low rate of transfusion and even after the introduction of procedures to screen blood products for HCV. Egyptian blood donors should be effectively screened for anti-HCV and individuals who have a history of drug abuse should be deferred from donating the blood. This and stringent infection-control measures are necessary steps to limit the spread of HCV, HBV and perhaps other viruses to patients