Invasive procedures including chorionic villus sampling and amniocentesis in sexlinked diseases increase the risk of fetal loss. Therefore, Noninvasive fetal gender determination using cell-free fetal DNA (cffDNA) in maternal plasma may be promising. Fifty pregnant females with gestational age ranging from six to ten weeks were included. cffDNA were extracted from maternal plasma and amplified by real time and conventional PCR for identification of SRY, DYS14 and DAZ genes as specific genetic markers for male-bearing pregnancies. In general, sensitivity and specificity of real time PCR was better than conventional PCR. However, sensitivity of DYS14 gene and specificity of SRY gene by real time PCR was equal to those of conventional PCR.Sensitivity of DYS14 gene was the highest and sensitivity of SRY gene was the lowest.However, combination of the three Y-chromosomal sequences in the diagnosis increased the accuracy of the test, which is suitable for clinical application.
Background: Previous reports have suggested the significant association of t(14;18) (q32;q21) and follicular lymphoma (FL). However, little information is available in the literature on the relationship between BCL2 protein, BCL2 gene status in FL and the patient outcomes. Also, understanding of IGH/BCL2 molecular rearrangement using real time PCR (RT-PCR), in follicular lymphoma in relation to survival might provide a more accurate and rational method of risk stratification to guide treatment and might suggest new therapeutic approaches as well. Methods: This study evaluated the relative frequency of t(14;18) by RT-PCR and its apoptosis-related BCL2 protein expression by an immunohistochemical assay (IHC) in fifty FL cases in tissues. In addition, we evaluated the relation of BCL2 protein expression to the translocation, together with the relation of both t(14;18) and BCL2 protein expression to the clinico-pathological features and survival data including progression free survival (PFS); and overall survival (OS) in order to evaluate their prognostic role in FL. Results & conclusion: There was a significant association of the t(14;18) with BCL2 protein expression, grading of FL, and the OS. In addition, there was a significant association of BCL2 protein expression with the grading of FL, OS, International Prognostic Index (IPI) score and performance status. However no significant association of t(14;18) or BCL2 protein expression with the other clinico-pathological features, and PFS. .
The triglyceride to high-density lipoprotein cholesterol ratio (TG/HDL-C) has been advocated as a simple clinical indicator of insulin resistance. The aim of this study is to evaluate the prediction of insulin resistance in Egyptians by TG/HDL-C as an available factor for clinical applications.
Coronary artery disease (CAD) has high morbidity and mortality, therefore accurate detection of CAD and atherosclerotic plaque burden is essential. Invasive coronary angiography (ICA) can confirm the presence of luminal stenosis caused by atherosclerotic plaque and is an important tool for the quantification of CAD plaque burden. However, it has many limitations. Therefore, new methods for accurate noninvasive diagnosis of CAD using genetic markers were exerted. This study aimed at evaluation of new genetic biomarkers in diagnosing CAD and determining its severity and extent, using Gensini score as a scoring model. Sixty two subjects who had undergone coronary angiography and analyzed for the presence, severity and extent of CAD using Gensini score were selected for this study. Twenty subjects had normal Gensini score, 24 subjects were with mild to moderate CAD and 18 subjects were with severe CAD. Extraction of total RNA from whole blood was done together with PCR amplification of PNPLA2, TUBA3, FTL and AHR genes and the house keeping gene GAPDH. It was found that PNPLA2 and TUBA3 were significantly lower in CAD patients and mild/moderate CAD than in controls. However, PNPLA2 was significantly higher in severe CAD than in mild/moderate CAD. M oreover, PNPLA2 gene had The highest specificity for CAD prediction of (100%), followed by TUBA3 (60%) then FTL and AHR (each 40%), and both PNPLA2 and FTL gene had the highest sensitivity for CAD diagnosis (80.95%), followed by TUBA 3 (76.19%), then AHR (71.43%). On the other hand, PNPLA2 showed the highest specificity in CAD severity prediction (83.33%), followed by TUBA3, FTL and AHR with equal specificity (each 50%), and TUBA 3 showed the highest sensitivity (66.67%) followed by PNPLA2,, FTL and AHR with equal sensitivity (each 55.56%). In conclusion, these genes are useful in prediction of CAD and CAD severity especially emphasizing PNPLA2 and TUBA3 and further studies on larger population number and other genes are recommended.
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