Search

Metabolic syndrome (MetS) is a cluster of the most dangerous risk factors for type 2 diabetes mellitus and cardiovascular disease. The 1131T/C polymorphism of the apolipoprotein A5 (ApoA5) gene is associated with hypertriglyceridemia and correlates with impaired glucose homeostasis. These observations prompted us to explore the frequency of ApoA5 1131T/C polymorphism among patients with MetS as to assess its effects on lipid metabolism and insulin resistance. The study was conducted on 90 subjects divided into two groups: 60 MetS patients and 30 healthy controls. Fasting glucose, lipid profile, C-peptide (ELISA), and ApoA5 1131T/C polymorphism (PCR-RFLP) were done to all participants. CC genotype of ApoA5 gene was present only in MetS group compared to controls with a frequency of 13.3 vs. 0 % ( P = 0.011), while the wild genotype (TT) was more frequent among the controls (86.7 vs. 56.7 %, P = 0.011). The mutant genotypes (TC, CC) were associated with higher risk for MetS (OR 4.97, 95 % CI = 1.5-16). The C allele was significantly increased in cases compared to controls (28.3 vs. 6.7 %, P = 0.001) and was associated with increased risk of MetS (OR = 5.535, 95 % CI = 1.8-16.4). Cholesterol, triglycerides, glucose levels, and modified HOMA-IR showed significantly higher values among TC/CC genotype carriers compared to TT genotype carriers, while HDL showed significantly lower values in the TC/CC genotype carriers compared to TT genotype carriers among MetS patients. Our findings show that ApoA5 gene 1131T/C polymorphism is associated with higher risk for MetS, and that the C allele carriers are more susceptible to dyslipidemia and insulin resistance. [ABSTRACT FROM AUTHOR]

Tumor necrosis factor alpha (TNF-α) promoter gene polymorphism at position 308 and that of the protein tyrosine phosphatase nonreceptor type 22 (PTPN22) at position 1858 C/T have been inconsistently implicated as genetic risk factors for systemic lupus erythematosus (SLE) in some populations. We investigated the possible association of these polymorphisms with SLE susceptibility, and whether serum TNF-α level is related to different genotypes and disease activity in Egyptian SLE patients. TNF-α-308 G/A and PTPN22 C1858T polymorphisms were determined by PCR-restriction fragment length polymorphism analysis in 40 SLE patients and 40 unrelated healthy controls. Serum TNF-α level was measured by ELISA method. The median serum TNF-α was significantly higher in SLE patients than in controls ( P < 0.001). A significant positive correlation was detected between serum TNF-α and SLE activity index ( r = 0.723, P < 0.001). There was no significant difference in TNF-α-308 G/A genotypes or allele frequency between SLE cases and controls ( P = 0.108 and P = 0.133, respectively). Diabetes was the only clinical feature in SLE patients that showed significant higher frequency with GA genotype than with GG genotype ( P = 0.001). Risk estimation for the TNF-α-308 genotypes was of no significant (odds ratio = 2.429; 95 % CI = 0.8-7.2; P = 0.108). Concerning PTPN22 1858 C/T, there was no significant difference in PTPN22 C/T genotypes or allele frequency between SLE cases and controls ( P = 0.152 and P = 0.155, respectively). TNF-α-308 G/A and PTPN22 (1858 C/T) polymorphisms do not exhibit a significant influence on the susceptibility of SLE in Egyptian patients. However, serum TNF-α level could be a sensitive marker of SLE disease activity. [ABSTRACT FROM AUTHOR]

Oxidative stress is believed to play an important role in the pathogenesis of smoking-induced chronic obstructive pulmonary disease (COPD). We hypothesized that low serum activity level of paraoxonase-1 (PON1) that play a protective role in the lungs by metabolizing lipid peroxides and genetic polymorphism of antioxidant enzymes that detoxify cigarette smoke products such as microsomal epoxide hydroxylase-1 (m-EPHX-1) would be associated with increased susceptibility to COPD in smokers. The study was conducted on patients admitted to Chest Diseases Department, Kasr Al-Aini Hospital, Cairo University. Sixty subjects were divided into three groups-25 COPD patients, 25 chronic smokers without COPD, and 10 healthy nonsmokers. Pulmonary function tests were done for confirmation of COPD. Serum PON1 activity assay using spectrophotometric kinetic method and PCR-RFLP for genetic polymorphism of m-EPHX-1 exon 3 113 T>C were done to all participants. The significantly low median value for serum PON1 activity was found in COPD and smoker groups compared to the nonsmoker group ( P = 0.015). Homozygote mutant genotype (HH) of m-EPHX-1 was present only in the COPD group compared to the other two groups with a frequency of 20%, 0%, and 0% respectively [ P = 0.013; odds ratio (OR), 4.26; P = 0.008]. The OR between COPD and nonsmoker group was 14.222 ( P = 0.008). The frequency of TH genotype was highest in the COPD group (44%, P = 0.013). While the wild genotype (TT) was more frequent in the nonsmoker group compared to the smokers and COPD groups (80%, 64%, and 36% respectively; P = 0.013). The slow m-EPHX-1 exon 3 polymorphisms (HH and HT) and the reduced serum PON1 activity are associated with higher susceptibility to COPD in smokers. [ABSTRACT FROM AUTHOR]

Cytokines play a central role in regulating the anti-viral responses against hepatitis C virus (HCV). The objective of this study were to evaluate the effect of proinflammatory cytokines (IL-18 − 607 C/A, rs 1946518; IL-18 − 137 G/C, rs 187283; INF-γ + 874 T/A, rs 240561), SNPs, and the anti-inflammatory cytokine (IL-10 + 1082 G/A, rs 1800896) SNPs on the risk of development of hepatic cirrhosis in Egyptian patients and to evaluate the combined effect of the polymorphic variants that show an interrelation with the risk of hepatic cirrhosis. The study included 63 chronic HCV patients. The patients were stratified into two groups. Group 1 consisted of 33 cirrhotic chronic hepatitis C patients while the second group consisted of 30 non-cirrhotic chronic hepatitis C patients that were taken as a control group. Genotyping of IFN-γ (+ 874 T/A) and IL-10 (− 1082 G/A) SNPs was performed by allele-specific PCR technique (AS-PCR). Genotyping of IL-18 (− 607 C/A) and IL-18 (− 137 G/C) SNPs was determined by PCR-RFLP technique. Analysis of IFN-γ (+ 874 T/A) SNP revealed that the T allele and the TT genotype were significantly higher in cirrhotic patients' group compared to non-cirrhotic group ( P < 0.001 and P = 0.004, respectively). Analysis of IL-10 (− 1082 G/A) SNP revealed that the A allele and AA genotype were significantly higher in the cirrhotic patients' group ( P = 0.001 and P = 0.047, respectively). Regression analysis revealed that IFN-γ Hi/IL-10 Lo combined genotypes were significantly higher in liver cirrhosis patients compared to non-cirrhotic patients ( P = 0.002). INF-γ (+ 874 T/A) and IL-10 (+ 1082 G/A) SNPs might be associated with occurrence of hepatic cirrhosis in chronic HCV Egyptian patients. [ABSTRACT FROM AUTHOR]

Of 222 infertile Arabian mares, unilateral ovarian enlargement was detected in three cases. Ultrasonography suggested the presence of ovarian tumours. Blood samples were taken for hormonal analysis, and the mares underwent surgery for ovarian exploration. Ovarian specimens were processed for microscopic examination. On histopathology, an adult-type granulosa cell tumour (GCT), a mixed germ cell tumour and a low-grade Sertoli cell tumour were diagnosed. The GCT (6.5 cm in diameter) was rounded and cystic, with a central hypoechogenic area. The ovarian tissue was entirely replaced by polygonal neoplastic cells. The mixed germ cell tumour (15.3 cm in diameter) was hard and non-homogeneous. The ovary contained insular patterns of round, oval or spindle cells with myxomatous and hyalinised stroma. The stroma also contained osteoid tissue. The ovarian low-grade Sertoli cell tumour (19 × 20 cm) was a solid, fairly round homogeneously echogenic structure. The ovarian tissue was completely replaced by aggregated tubules lined by Sertoli-type cells surrounded by abundant fibrous stroma. The three types of tumours secreted relatively low levels of estradiol 17β and progesterone, whereas the level of inhibin-B was extremely high in the case of the Sertoli cell tumour. In conclusion, this study described three types of ovarian tumours causing infertility in Arabian mares. Furthermore, the Sertoli cell tumour is described here for the first time in mares. [ABSTRACT FROM AUTHOR]