Safaa I. Tayel

Biochemical and molecular study on interleukin-1β gene expression and relation of single nucleotide polymorphism in promoter region with Type 2 diabetes mellitus

Interleukin‐1β (IL‐1β) assumes a centric role in the regulation of immune and inflammatory responses and thus has been recognized in immune mediated diseases like type 2 diabetes mellitus (T2DM). We aimed to investigate expressed level of IL‐1β and its relation with IL‐1β −511T>C polymorphism in T2DM patients. This study enrolled 80 subjects (50 patients with T2DM and 30 healthy control subjects). Laboratory investigations included fasting (FBG) and 2 h postprandial blood sugar (2 h PBG), HBA1c, lipid profile, and renal function tests. Genotyping of IL‐1β −511T>C (rs16944) SNP assay by real‐time PCR and relative quantitation of IL‐1β gene expression transcript by real‐time PCR. Results: T2DM patients had significantly higher FBG and 2 h PBG, HBA1c, LDLc, TC, TG, systolic, and diastolic BP while lower HDLc compared with control group. IL 1‐ β −511 T>C, CC genotype and C allele were significantly associated with risk of T2DM with odds ratio (OR) 4.73, 95%CI (1.21‐18.39) and OR 2.27, 95%CI (1.72‐4.40), respectively. Moreover, diabetic patients had significantly higher IL 1‐ β gene transcript compared with control group (P < 0.001). CC genotype of IL 1‐ β −511 T > C had the highest significant level of IL 1‐ β gene transcript demonstrated compared with C/T and T/T genotypes (P < 0.001) in patients. Conclusion: C allele of IL‐1 β −511 T >C could be considered risk factor contributor to T2DM and excess level of IL‐1 β transcript may disclose to some degree the inflammatory role of cytokines in T2DM.

Association of factor V Leiden, Janus kinase 2, prothrombin, and MTHFR mutations with primary Budd-Chiari syndrome in Egyptian patients.

Budd–Chiari syndrome (BCS) is defined as obstruction of hepatic venous outflow anywhere from the small hepatic veins to the suprahepatic inferior vena cava. The pathogenesis of BCS is still not fully understood. This study aimed to evaluate the association of factor V Leiden (FVL), Janus kinase 2 (JAK2), prothrombin, and methylene tetrahydrofolate reductase (MTHFR) mutations with primary BCS.

Relation of Sirtuin 1 Gene Polymorphisms with Lipid Profile in Hemodialysis Patients

iastolic and systolic BP (P< 0.001), fasting blood glucose (P<0.001), TC (P<0.001), TG(P=0.006), LDLc(P=0.004), urea (P<0.001)and creatinine (P<0.001). Males and female patients differ according to cause of hemodialysis (P= 0.02) and serum creatinine (P= 0.007). Control subjects of sirtuin1 rs7895833 showed significant A allele compared with patients (46% vs. 27.78% P= 0.04) while C allele of

Vitamin D deficiency and vitamin D receptor variants in mothers and their neonates are risk factors for neonatal sepsis

HighlightsMothers of cases had significantly lower vitamin D levels compared with healthy ones.Neonatal septic cases had also significantly lower vitamin D level compared with healthy ones.VDR polymorphisms at FOKI showed that neonatal sepsis cases had significantly higher TT genotype and T allele.VDR polymorphism at TAQI CC and CT genotypes and C allele frequencies were predominant in cases however they were not significantly different versus healthy control.Also, a strong LD between FOKI and TAQI in cases, in control group and in total sample. Background and aim: Increasing prevalence of neonatal sepsis in recent years catch attention to early prevention and management. Vitamin D receptor (VDR) polymorphism can modulate VDR expression level that greatly influences immunity and susceptibility to microbial infections. We aimed to investigate the association of VDR polymorphism at FokI, rs2228570 T/C, and TaqI, rs731236 C/T gene with serum 25‐hydroxyvitamin D level and risk of neonatal sepsis. Methods: This work carried on 160 subjects classified into 80 cases (40 mothers and their 40 septic neonates) and 80 healthy controls (40 volunteer mothers and their 40 healthy neonates). Genotyping of VDR polymorphisms were assayed by real‐time PCR and serum 25‐hydroxyvitamin D level and hs‐CRP were measured by ELISA. Results: Vitamin D deficiency was observed in mothers of cases compared with healthy ones (p = <0.001) and in septic neonates versus healthy ones (p = <0.001). Septic neonates had much higher VDR FokI TT genotype (p = 0.014) and T allele (p = 0.003) versus healthy ones. TT genotype and T allele could increase the risk of sepsis with OR 95% CI [4.804 (1.4–16.4)] and [2.786 (1.4–5.7)] respectively while VDR TaqI showed no association with sepsis. There was a strong LD between FokI and TaqI in sepsis cases. In sepsis, T/T genotype at FokI had significantly lower vitamin D (p = <0.001). Conclusion: Vitamin D deficiency in mothers/neonates is a risk factor for neonatal sepsis. VDR FokI T allele had lower 25‐hydroxyvitamin D level that may predispose to sepsis hazards.

Association of stem cell factor gene expression with severity and atopic state in patients with bronchial asthma

BackgroundBronchial asthma is a chronic inflammatory and remodeling disorder of the airways, in which many cells, cellular elements, and cytokines play important roles. Stem cell factor (SCF) may contribute to the inflammatory changes occurring in asthma. We aimed to show the expression of SCF gene in patients with asthma as a means of diagnosis and its association with severity and atopic state in these patients.MethodsThis study was carried out on 80 subjects, 50 asthmatic patients and 30 age and gender matched healthy control persons. They were subjected to full history taking, general and local chest examination, spirometric measurements (pre and post broncodilators) using a spirometer, serum IgE, and real time PCR for assessment of SCF mRNA expression.ResultsThis study showed significant difference between the studied groups regarding pulmonary function tests (P < 0.001). Asthmatic patients had significant higher SCF expression compared to control (P < 0.001), also atopic patients vs non atopic (P = 0.03) and severe asthmatic patients vs mild ones (P < 0.001). SCF expression at cut off point (0.528) is sufficient to discriminate asthmatic patients from control while at cut off point (1.84) for discrimination of atopic patients from non-atopic patients and at cut off point (1.395) for discrimination of severe asthmatic patients from mild ones. A significant negative correlation between SCF expression and inhaled steroid while significant positive correlation with serum IgE was found.ConclusionMeasuring SCF mRNA expression can be used as an efficient marker for evaluation of atopy and detection of severity of bronchial asthma.

Parvovirus B19 viremia in Egyptian adults with systemic lupus erythematosus

Objective This study was undertaken to investigate the seroprevalence of parvovirus B19 DNA in systemic lupus erythematosus (SLE) patients and its correlation with disease activity. Background Infection with parvovirus B19 (B19) has been suggested to contribute to the pathogenesis of SLE. B19 infection may simulate both clinical and laboratory features of SLE, presenting either as a potential first-time diagnosis of SLE or as an exacerbation of previously established disease. Patients and methods Sera from 30 adult patients with SLE and from 15 normal controls were examined for parvovirus B19 infection by means of nested PCRs to detect B19 DNA. Results B19 DNA was detected in two of 15 (13.5%) controls and in 12 (40%) of 30 SLE patients, with no significantly positive rates observed in SLE patients compared with healthy controls (P > 0.05). B19 was positive in seven (58.5%) patients with severe activity compared with 8.3% without activity, 16.7% patients with mild activity, and 16.7% patients with moderate activity. No significant differences were observed between patients with virological positivity and those with virological negativity for B19 infection as regards the activity of SLE or any clinical manifestations of SLE. Conclusion Parvovirus B19 infection is not associated with SLE.

Serum hepcidin level evaluation in children with acute lymphoblastic leukemia during different treatment phases; the influence of erythroid activity and iron stores

Background: Hepcidin is the master regulator of iron homeostasis but until now, data about its expression in acute lymphoblastic leukemia (ALL) is scarce. Objectives: To evaluate hepcidin level in a group of ALL children in different treatment phases, investigating its relation to serum ferritin and erythroid activity. Materials and Methods: Forty ALL children were included and categorized into; Group I: Included 20 newly diagnosed ALL children who were evaluated at diagnosis and after remission. Group II: Included 20 ALL children in the maintenance phase of therapy. Twenty age and gender matched healthy children were enrolled as a control group. Complete blood count including reticulocytes %, liver functions, renal functions, and C-reactive protein were assayed. Serum hepcidin and ferritin were measured by enzyme-linked immunosorbent assay. Results: Serum hepcidin and ferritin levels were significantly higher among both ALL groups compared to the controls. These values were higher before therapy than after remission in the newly diagnosed group as well as than the maintenance group. Before therapy, both serum hepcidin and ferritin levels had significant negative correlation with hemoglobin and reticulocytes % while directly correlated with each other. Conclusion: Hepcidin level increased in ALL children at diagnosis and in different treatment phases. The highest rise was at diagnosis. These results indicate that hepcidin level among ALL patients is under the opposing effects of the iron stores and erythroid activity with the net level is determined by the strength of each stimulus.

Association of lipoprotein lipase gene polymorphisms with lipid profiles in atherosclerotic coronary artery disease

Background Coronary artery disease (CAD) is a complex disease with well-documented genetic and environmental components. Lipoprotein lipase (LPL) is considered a potential target as the variations in the LPL gene have been implicated in a number of pathophysiologic conditions associated with CAD. Objectives The aims of this study were to determine the relationship between LPL gene polymorphisms ( PvuII and S447X ) and lipid profiles in patients with CAD, and to determine its role in the prediction of the severity of coronary atherosclerosis. Patients and methods A total of 100 individuals were classified by coronary angiography: 80 patients with CAD and 20 controls (normal coronary angiography). Clinical data, carotid sonography, blood lipid profiles, and LPL genotyping for PvuII and S447X using PCR-RFLP were assessed. Results Plasma lipid profiles and carotid intima-media thickness were significantly increased in CAD patients compared with controls. LPL polymorphisms were distributed for PvuII genotypes and alleles in CAD patients versus controls as follows: CC (2.5 vs. 15%), CT (76.25 vs. 75%), and TT (21.25 vs. 10.0%) genotypes; T (59.4 vs. 47.5%) and C (40.6 vs. 52.5%) alleles. LPL S447X genotypes and alleles showed no significant difference between CAD and controls. CT genotypes of LPL PvuII were the highest in number and percentage compared with CC and TT among the CAD patients ( P S447X among CAD patients ( P Conclusion Atherosclerotic ischemic patients showed a higher association in the number and percent of CT genotypes of PvuII LPL that may be an important diagnostic risk biomarker and may implicate a therapeutic intervention in CAD.