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Objectives Liver cirrhosis is a condition in which the liver slowly deteriorates and malfunctions due to chronic injury. HCV is one of the major causes of liver fibrosis and ultimate progression to cirrhosis. Transforming growth factor-beta1 (TGF-β1), one of the three isoforms of TGF-β, is a pleiotrophic cytokine that regulates the proliferation and differentiation of cells, embryonic development, wound healing and angiogenesis. This study aimed to evaluate the role of serum TGF-β1 and − 509 C>T promoter gene polymorphism in the development of liver cirrhosis. Design and methods Besides routine liver profiles, serum TGF-β1 was measured in 40 liver cirrhosis patients and 40 controls using ELISA technique. TGF-β1 − 509 C>T promoter gene polymorphism was detected using PCR-RFLP technique. Results TGF-β1 − 509 CT and TT genotype frequencies were significantly higher in the cirrhotic group (52.5%, 25%; respectively) than control group (10%, 7.5%; respectively); OR = 16.238 (95% CI 5.391–48.914, p

The present study aimed at evaluating the role of IL-1β −511 promoter and IL-1β +3953 exon 5 gene polymorphisms in the risk of developing rheumatoid arthritis (RA) and its correlation to disease activity in Egyptian patients. Thirty-two patients having RA as defined by American College of Rheumatology and 20 healthy control subjects were included. All were subjected to DNA analysis for IL-1β −511and IL-1β +3953 gene polymorphisms using PCR-RFLP technique with restriction enzymes AvaI and TaqI, respectively. No special pattern of association could be detected either between IL-1β −511 and +3953 gene polymorphisms and disease susceptibility or between the polymorphisms and the disease activity parameters represented by disease activity score 28 (DAS 28), ESR, and number of swollen and tender joints. Allele distribution failed as well to detect any association with either disease susceptibility or activity; however, a trend towards positive association involving IL-1β −511 C allele was observed (P = 0.054). Our results suggest that IL-1β −511 and IL-1β +3953 gene polymorphisms do not influence the susceptibility to acquire RA in our population with no relation to disease activity. The complex role of the genetic factors in RA and the magnitude of the effects will require further thorough confirmations in other populations and on larger samples to acknowledge this issue.

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.

Background Renin-angiotensin system components have been demonstrated in the biology of infantile hemangioma (IH). Captopril, an angiotensin-converting enzyme inhibitor, is proposed as a therapeutic alternative to oral propranolol. Objectives We sought to compare the benefit of propranolol and captopril in the treatment of IH, and to assess angiotensin-converting enzyme gene polymorphism in patients with IH and in control subjects. Methods Thirty patients with IH and 35 healthy control subjects were enrolled in this study. Patients were randomly assigned to treatment with either propranolol or captopril. Assessment was done clinically and by measurement of serum vascular endothelial growth factor and angiotensin II in patients and control subjects. Angiotensin-converting enzyme gene polymorphism was also studied. Results Clinical improvement was significantly better and faster in the patients treated with propranolol. Both groups showed reduced vascular endothelial growth factor and angiotensin II levels posttreatment, with a significantly higher percentage reduction in the propranolol-treated group. Cardiac side effects were reported only in the captopril-treated group. Baseline vascular endothelial growth factor level was significantly higher, and baseline angiotensin II level was significantly lower, in patients than control subjects. Limitations We studied a relatively small number of patients and control subjects. Conclusion Propranolol shows greater benefit than captopril in the treatment of IH.

To examine the role of first-trimester uterine artery Doppler, serum β-hCG and pregnancy-associated placental protein-A (PAPP-A) in prediction of preeclampsia and IUGR.A total of 100 pregnant women in the 11-14 weeks' gestation were examined using uterine artery Doppler, serum β-hCG and PAPP-A. All women were followed-up for development of preeclampsia or IUGR.A total of 94 women completed the study of which 7 (7.4%) developed complications. Uterine artery PI and RI were significantly higher whereas serum β-hCG and PAPP-A levels were significantly reduced in patients who developed complications when compared with those who did not. Uterine artery PI had the highest sensitivity (100%) but a low specificity (56% and 45%) in prediction of preeclampsia and IUGR, respectively. Adding PAPP-A to uterine artery PI elevated the specificity into 94.44% and 95.51%, respectively. Combined PI and β-hCG elevated the specificity into 88.89% and 89.89%, respectively.Our study suggests that first-trimester uterine artery impedance, as measured by Doppler ultrasound as well as low serum biomarkers (β-hCG and PAPP-A) can be used for prediction of preeclampsia and IUGR. The most sensitive is uterine artery PI. Adding β-hCG to PI improves specificity in prediction of both preeclampsia and IUGR. Uterine artery PI plus PAPP-A is the best combination for prediction of both preeclampsia and IUGR.

Asthma is a multifactorial respiratory disease determined by interactions of multiple disease susceptibility genes and environmental factors. Interleukin (IL)-18 is an important cytokine for initiating and perpetuating the catabolic and inflammatory response in allergic asthma. A number of single nucleotide polymorphisms that influence IL-18 production are found in the gene promoter region. The aim of this study was to investigate the association of IL-18 −607C/A promoter polymorphism with asthma and whether this polymorphism influenced the severity of asthma in affected children. The influence of this promoter gene polymorphism on total serum IgE level in studied subjects was also investigated. This study was carried out at the Allergy Clinic of Abu El Reesh Children’s Hospital at Cairo University, Egypt. This study included 40 asthmatic children, subdivided into four groups according to different degrees of asthma severity, and 20 apparently healthy subjects as the control group. All cases were subjected to history taking, clinical examination, and the following laboratory investigations: complete blood count, total serum IgE level assay by ELISA and genomic DNA extraction, and analysis for IL-18 −607C/A promoter gene polymorphism using the PCR-RFLP (restriction fragment length polymorphism) technique. In the present study the IL-18 −607AA genotype frequency was higher in cases (22.5 %) than in the control group (15 %); however, the difference was not statistically significant (p = 0.773). No statistically significant difference between the degree of asthma severity and IL-18 −607C/A polymorphism was found (p = 0.489). No significant association could be detected upon comparing the frequencies of C and A alleles among the two studied groups (p = 0.366). Also, no significant differences were demonstrated for the allele frequencies when the intermittent with mild [odds ratio (OR) = 2.72, 95 % CI 1.03–2.33, p = 0.067], intermittent with moderate, and severe (OR = 2.8, 95 % CI 1.01–8.5, p = 0.066) asthma groups were compared. The median value of the total serum IgE level in asthmatic cases with the mutant genotype (AA) was significantly higher [360 IU/L (96.6–1,340 IU/L)] than in the control group [119 IU/L (70.6–158.9 IU/L)] (p = 0.033). No significant statistical difference was encountered regarding the distribution of IL-18 −607C/A genotypes and allele frequencies in asthma patients and healthy controls. Also, there were no significant associations between asthma severity and different genotypes or alleles. The median value of the total serum IgE level in asthmatic cases with the mutant genotype (AA) was significantly higher than in the control group. Thus, IL-18 −607AA genotype frequency might be related to higher total serum IgE.