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Aim of Work To detect the prevalence of 25-hydroxyvitamin D 3 [25(OH)D 3 ] deficiency in rheumatoid arthritis (RA) patients and its correlation with disease activity, functional disability and bone mineral density (BMD). Patients and methods Cross-sectional case control study included 104 RA patients and 60 matched controls. All patients were subjected to full history taking, clinical examination and routine laboratory investigations in addition to measurements of serum 25(OH)D 3 . Disease activity was assessed by 28-Disease Activity Score (DAS-28) with three variables; tender and swollen 28-joints (T-28 and S-28) and erythrocyte sedimentation rate (ESR). Functional disability was assessed by Modified Health Assessment Questionnaire (M-HAQ). BMD was measured by dual energy x-ray absorptiometry. Results 25(OH)D 3 deficiency was similar in both RA patients and controls (99.1% versus 100%). Although, the mean serum 25(OH)D 3 level was less among RA patients than among controls but there was no statistical significant difference (5.98 ± 6.8 nmol/l versus 8.4 ± 9.6 nmol/l, p = 0.06). There were statistically significant correlations between 25(OH)D 3 and body weight (r = −0.256, p < 0.009), T-28 (r = −0.559, p < 0.001 ), S-28 (r = −0.631, p < 0.001), DAS-28 (p < 0.001), M-HAQ (p < 0.001) scores, ESR (r = −0.39, p < 0.001) and hemoglobin (r = 0.28, p = 0.004). No significant correlation was found between 25(OH)D 3 level and BMD or drug intake. Conclusion Although the prevalence of 25(OH)D 3 deficiency is similar in both RA patients and controls but its deficiency is significantly correlated with increased disease activity and disability but not with BMD.

The purpose of this study was to examine the relationship between serum selenium (Se) levels and lipid subfraction among Egyptian type 2 diabetes patients and their association with the severity of the disease. The study was conducted on 60 type 2 diabetic adults with BMI

Congenital heart defects (CHDs) are the most prevalent heart diseases in neonates. There is evidence suggesting that the risk of CHDs may be related to the folate status as well as the genetic variants in folate-related genes. Investigating the relationship between methyltetrahydrofolate reductase (MTHFR) C677T gene polymorphism and CHDs in full-term neonates and considering the possible protective role of folate supplementation were made. This study included 26 cases, 18 controls, and their biological mothers. Echocardiography was performed to all neonates for diagnosis of the type of congenital heart disease. Mothers and their off springs were subjected to DNA analysis for MTHFR C677T using polymerase chain reaction restricted fragment length polymorphism. An association between maternal (p = 0.044) and infant (p = 0.001) MTHFR C677T polymorphism and transposition of great vessels (d-TGA) was found. Odds ratio (OR) for the genotypes CT and TT versus CC was 10, with 95 % confidence limits (CI) (1.05–95.23) and OR 26 with 95 % CI (2.60–259.29), respectively. Also for the genotypes CT and TT versus CC, an association was found between infant MTHFR C677T polymorphism and atrial septal defect [p = 0.000; OR 36.4; 95 % CI (3.7–354.40)], ventricular septal defect [p = 0.025; OR 5.2; 95 % CI (1.2–23.04)], as well as patent ductus arteriosus [p = 0.000; OR 33.8; 95 % CI (3.5–330.62)]. Maternal folic acid supplementation proved protective against CHDs. MTHFR C677T polymorphism is associated with certain subgroups of CHDs.

Diabetic nephropathy (DN) is a major cause of end-stage renal disease. Epidemiological studies suggest genetic predisposition to DN. Apolipoprotein A5 (ApoA5) plays an important role in the triglyceride (TG) metabolism, accelerating the catabolism of the TG-rich lipoproteins. Studies revealed that the ApoA5-1131 polymorphism is strongly associated with TG levels affecting DN risk. Patients with DN have increased fasting plasma TG levels, and studies report that elevated TG precedes DN. To test the effect of polymorphism ApoA5-1131T→C on the elevated TG levels contributing to the development of DN on type 2 diabetes patients, the study was conducted on 40 diabetic patients divided into two groups according to the presence or absence of diabetic nephropathy (DN+ and DN−), com- pared to 20 age- and sex-matched apparently healthy con- trols. DNA analysis was performed using polymerase chain reaction-restriction fragment length polymorphism. ApoA5-1131 CC carriers had a higher mean TG in the DN +, DN−, and control groups (TG 224, 201, and 204 mg/dl, respectively) (p00.001) compared to TT and TC carriers. Genotype distribution between controls and patients revealed CC carriers in the DN− and DN+ to be 55 and 45 %, respectively, compared to only 15 % in the control group (p00.001). Association between DN and the poly- morphism (CC) that affects fasting TG is seen in this study (OR04.6, 95 % CI01.02-21, p00.001). ApoA5-1131 CC carriers are more susceptible to a higher fasting TG level and the development of DN.

Gliomas account for almost 80 % of primary malignant brain tumors and are a major cause of morbidity and mortality more than any other tumor. The p53 gene is a tumor suppressor gene that plays a role in genomic stability, cell cycle control, and DNA repair after damage and apo- ptosis. Malfunction of the p53 pathway is a universal hall- mark of human tumors with p53 codon 72 polymorphism reported to affect regulatory networks central to glioma development. The aim of work was to investigate the role of p53 Arg72Pro single nucleotide polymorphism (SNP) in the pathogenesis of gliomas and its effect on the serum level of p53. Forty-five glioma patients and 50 control subjects were included for whom genotyping for p53 Arg72Pro SNP by polymerase chain reaction-restriction fragment length polymorphism as well as measurement of serum p53 level were done. No statistically significant difference was ob- served in genotype distribution or allele frequency between cases and control and nor was there a significant difference in serum p53 level. In conclusion, in our work, no associa- tion was detected between p53 Arg72Pro SNP and the pathogenesis of gliomas, and neither was there an observed effect for the different genotypes on serum p53 levels.

Background At least six HCV (hepatitis C virus) genotypes are unequally distributed worldwide. HCV genotyping guides the selection of treatment regimens and provides important epidemiological markers that enable the outbreak source to be traced and the spread of disease to be controlled. In Egypt, there is an increasing need for cost-effective, fast, and easily performable HCV genotyping assays.Recently, a multiplex PCR assay was developed to determine HCV genotypes. It employs genotype-specific primers, based on sequences of the entire core region and part of the 5’UTR of the genome. Objectives In this study, we compared a simple, new, modified multiplex PCR system for HCV genotyping with a commercially available line probe assay (INNO-LiPA) that is based on reverse hybridization. Patients and Methods Serum samples from chronic HCV Egyptian patients (n = 73) were genotyped using the modified multiplex PCR assay, and genotypes were verified using the INNO-LiPA HCV II assay. Results The modified multiplex PCR method was able to type HCV-4 in 65 of 70 typeable samples (92.86%) and had 100% concordance with the INNO-LiPA assay. Conclusions Genotype 4 was the most prevalent genotype in our study. Based on our results, the modified multiplex nested PCR assay is a sensitive and inexpensive alternative for HCV genotyping and can be used in routine diagnostic laboratories. INNO-LiPA may be useful as a second-line assay for genotyping samples that are indeterminate by multiplex PCR. This approach will effect better treatment optimization and a reduction of the spread of HCV.

Hypertension (HTN) is a chronic condition of concern due to its role in the causation of coronary artery disease (CAD), stroke, and other vascular complications. Essential hypertension (EH) is a multifactorial disorder arising from the influence of several susceptibility genes and environmental stimuli. Apolipoprotein E (Apo E) plays an essential role in clearance of chylomicron remnants and very low-density lipoproteins (VLDL). Apo E gene has three alleles (E2, E3, and E4) that give rise to six different genotypes. A significant association of E4 allele has been observed with HTN in addition to the other well-known risk factors and positive family history. Carriers of E4 allele form a higher risk group showing greater susceptibility to CAD. These observations emphasize the need of genotyping Apo E in patients with EH as an important molecular tool in personalized medicine. The aim of this work was to study the association between Apo E gene polymorphism and EH in Egyptian patients as well as correlating different Apo E genotypes with serum lipids. The study was conducted on 50 patients with EH and 50 age-matched controls. DNA analysis was performed using polymerase chain reaction restriction fragment length polymorphism. The E3/E3 genotype was found in 85.42 % of patients, compared to 80 % in controls. E3/E4 (8.33 %) and E2/E3 (6.25 %) were lower in patients compared to controls 12 and 8 %, respectively. E4/E4 and E2/E2 genotypes were only found in two patients (4 %). Total cholesterol and low-density lipoprotein were significantly higher in E3/E4 as compared to E3/E3 and E2/E3. However, there was no significant difference in triglyceride, high-density lipoprotein, and VLDL.

The present study aims at evaluating the diagnostic efficacy of an enzyme-based colorimetric method (Enzolve’s kit) for quantitative determination of phenylalanine in comparison to the gold standard tandem mass spectrometer (MS/MS). This study was conducted on 155 neonates aged 3–7 days attending the neurometabolic clinic of Cairo University Children Hospital as a part of the neonatal screening program. Samples of patients were selected according to their phenylalanine levels obtained by MS/MS. Group 1 included 49 normal neonates with phenylalanine level 150 μmol/L selected to cover the analytical range of the commercial kit. Blood samples on filter paper cards were reassayed by an enzyme-based colorimetric test kit. On correlating the phenylalanine level assayed using enzyme-based colorimetric technique using Enzolve kit and MS/MS technique, r = 0.83 and P

Cardiovascular disease is the leading cause of death in Chronic kidney disease patients. This study tries to identify circulating endothelial microparticles {MPs} [such as Cadherin 5 and Anexin V] in CKD patients with and without IHD as potential new risk factors of atherosclerotic vascular disease. This study was carried out in Theodor Bilharz Research Institute [TBRI] on 60 patients with chronic kidney disease on maintenance hemodialysis. They were 41 male and 19 females selected from hemodialysis unit in TBRI. They were further subclassified into the following two groups according to the Echocardiography and Electrocardiogram (ECG) to 25 patients of chronic kidney disease without cardiac complications (17 males, 8 females and ages were 53.5 ± 9.9 years) and 35 patients of chronic kidney disease with cardiac complications (24 males, 11 females and ages were 57.5 ± 7.4 years). Twenty healthy subjects were selected as healthy control, their age 50 ± 9 years. Cadherin 5 & Annexin V Were done by enzyme linked immunosorbant assay (ELISA). The mean cadherin 5 levels in CKD with ischemic HD, CKD without ischemic HD and control group were 86.99 ± 21.51, 33.21 ± 8.65 and 2.63 ± 1.47 respectively which significantly higher in CKD with ischemic HD and CKD without ischemic HD than control group (p < 0.01) and significantly higher in CKD with ischemic HD than CKD without ischemic HD (p < 0.01). As regard to the mean annexin v levels in CKD with ischemic HD, CKD without ischemic HD and control group were 83.73 ± 22.64, 28.51 ± 9.73 and 0.47 ± 0.36 respectively which significantly higher in CKD with ischemic HD and CKD without ischemic HD than control group (p < 0.01) and significantly higher in CKD with ischemic HD than CKD without ischemic HD (p < 0.01). Endothelial dysfunction leading to atherosclerotic vascular disease in patients with CKD can be assessed quantitatively by measurement of plasma levels of endothelial microparticles such as CD144-EMP (Cadherin 5) and Annexin V.

Background and study aims The transforming growth factor (TGF)-β signalling pathway plays a dual role in hepatocarcinogenesis. It has been recognised for its role as a tumour suppressor as well as a tumour promoter depending on the cellular context. The aim of this study was to investigate the clinical significance of serum TGF-β1 level and TGF-β1 messenger RNA (mRNA) in the peripheral blood of liver cirrhosis and hepatocellular carcinoma (HCC) patients as noninvasive biomarkers in diagnosing HCC. Patients and methods Twenty patients were allocated to each of the liver cirrhosis and HCC groups, in addition to 20 healthy volunteers. TGF-β1 gene expression in peripheral blood was quantitated using real-time polymerase chain reaction (PCR), while serum TGF-β1 was analysed using enzyme-linked immunosorbent assay (ELISA). Results TGF-β1 gene expression was significantly lower in HCC patients (median 0.401 (0.241–0.699) fold change) than in liver cirrhosis patients (median 0.595 (0.464–0.816)) ( p = 0.042) and normal controls (median 1.00 (0.706–1.426) fold change) ( p = 0.001). TGF-β1 gene expression showed significant positive correlation with serum TGF-β1 ( r = 0.272, p = 0.036) and significant negative correlation with alpha-fetoprotein (AFP) ( r = −0.528, p = 0.001). Receiver operating characteristic (ROC) analysis was conducted for TGF-β1 gene expression in comparison with AFP. The area under the curve for TGF-β1 gene expression was 0.688 (95% CI = 0.517–0.858) ( p = 0.042) and AFP was 0.869 (95% CI = 0.761–0.976) ( p = 0.001). The sensitivity and specificity of TGF-β1 gene expression were 65% and 75%, respectively, at a cutoff value of 0.462 fold change. Conclusion TGF-β1 gene expression in the peripheral blood may be used as a molecular marker for the diagnosis of HCC. Additional studies on a large-scale population are necessary to gain greater insight into the impact of TGF-β1 gene expression in the pathogenesis of HCC.

Two common polymorphisms of the methylenetetrahydrofolate reductase (MTHFR) gene, the thermolabile C677T and A1298C polymorphism may contribute to hyperhomocysteinemia, a known risk factor for vascular diseases. Twenty with coronary artery disease (CAD) and 20 patients with cerebro-vascular stroke (CVS) were compared with 20 controls. Using PCR and restriction fragment length polymorphism (RFLP) analysis, we studied C677T and A 1298C MTHFR genotypes and their combined effect on homocysteine, measured by chemiluminescent enzymatic immunometric assay. Homocysteine values were significantly higher in CAD (16.12±5.09μmol/L) and in CVS (16.79±5.93μmol/L) compared with controls (10.43±2.57μmol/L, P0.05). A significant positive correlation between plasma homocysteine and cholesterol (r=0.37, P