Amaal Abdelaal

Children with severe asthma or acute asthma exacerbation may encounter difficulties in performing pulmonary function tests. In this situation, serum biomarkers can play a great role in evaluation of such patients. The aim of this study was to estimate the serum levels of human chitinase-3-like protein 1 (YKL40) and periostin in a group of Egyptian children with asthma during acute asthma exacerbation and in stable asthmatics compared with healthy control, and to correlate these findings with the severity of asthma. This cross-sectional study enrolled 120 childrenwith asthma with different degrees of asthma severity, according to the Global Initiative for Asthma guidelines, along with 60 age-matched and sex-matched healthy control. A complete blood count and an estimation of serum periostin and YKL40 levels were performed for all cases and control. Individual and mean values of periostin and YKL40 were significantly higher during acute asthma exacerbations, p<0.001. A highly significant relation between serum levels of periostin and YKL40 and asthma severity, p value for each was <0.001. Absolute eosinophil count was significantly correlated with the serum periostin levels in stable asthmatic group (p=0.01) only. There was significantly positive correlation (P<0.001) between both markers in stable asthmatic group. Spearman's correlation coefficient shows a statistically significant positive correlation between both markers and patient's age and duration of asthma, p value for each was 0.001. These findings highlight the importance of periostin and YKL40 as serum biomarkers for assessment of asthma severity and acute asthma exacerbations in children with asthma.

Oxidative stress is an imbalance between production and elimination of reactive metabolites of oxygen and nitrogen, in favor of their production leading to potential damage. During oxidative stress, biologically important molecules and cells can be damaged, and this can be significant in the pathogenesis of many diseases. Reactive oxygen species (ROS) and ROS-induced cytokines are known to trigger the apoptosis of some hepatocytes and therefore contribute to inflammation, regeneration, fibrogenesis, and carcinogenesis. The enzymes generally considered to be the frontline defense against ROS are catalase (CAT), the mitochondrial manganese superoxide dismutase (MnSOD), and glutathione peroxidase (GPX). Our aim in this work is to assess the possible association of the antioxidant enzyme polymorphisms of CAT (c.C-262T, rs1001179), MnSOD (p.Val16Ala, rs4880), and GPX1 (p.Pro 198 Leu, rs1050450) with the development of hepatocellular carcinoma (HCC) in a sample of hepatitis C virus (HCV)-infected Egyptian patients. Genetic polymorphisms were estimated in 40 HCC patients on top of HCV infection, 20 cirrhotic patients on top of HCV infection, and 20 healthy control individuals. Genetic polymorphisms of CAT (c.C-262T), MnSOD (p.Val16Ala), and GPX1 (p.Pro 198 Leu) were studied using PCR-RFLP technique. With regard to CAT enzyme polymorphism, the frequency of the CC was significantly higher in HCC and cirrhosis patients compared to the healthy control group (pþinspace}=þinspace}0.000). The frequency of the C allele in the three studied groups did not show statistically significant difference (pþinspace}=þinspace}0.081). Patients bearing CT + TT genotypes had 0.107-fold and 0.205-fold reduced risk of development of liver cirrhosis and HCC [pþinspace}=þinspace}0.001, 95 {%} CI (0.025–0.459); pþinspace}=þinspace}0.010, 95 {%} CI (0.058–0.721)], respectively, compared to those bearing CC genotype. With regard to the MnSOD, the Ala/Ala genotype was significantly higher in the HCC group and cirrhosis group than in control individuals (pþinspace}=þinspace}0.001). Similar results were found regarding the frequency of the Ala allele in the three studied groups (pþinspace}=þinspace}0.128). Patients bearing Ala/Ala genotype that had 2.8-fold and 1.8-fold increased the risk of development of liver cirrhosis and HCC [pþinspace}=þinspace}0.001, 95 {%} CI (1.753–4.530); pþinspace}=þinspace}0.001, 95 {%} CI (1.415–2.471)], respectively, compared to those bearing Val/Valþinspace}+þinspace}Val/Ala genotypes. With regard to GPX1 gene, the frequency of Pro/Leu genotype was significantly higher in the HCC and cirrhotic group compared to control group (pþinspace}=þinspace}0.000). There was a significant increase in Leu allelic frequency in HCC and cirrhotic patients than in control group (pþinspace}=þinspace}0.006). The presence of Leu allele increased the risk of development of liver cirrhosis and, consequently, HCC by 3.7-fold [pþinspace}=þinspace}0.018, 95 {%} CI (1.205–11.78)] and 4.9-fold [pþinspace}=þinspace}0.001, 95 {%} CI (1.742–13.86)], respectively, compared to Pro allele. The presence of CC of CAT (c.C-262T), Ala/Ala of MnSOD (p.Val16Ala) genes, and Leu allele of GPX1 (Pro 198 Leu) gene is considered as risk factors for development of liver cirrhosis and HCC in the presence of HCV infection.

BACKGROUND: The gene-environment interaction in the pathogenesis of hypertension has not been extensively studied in occupational noise.

OBJECTIVES: The aim of this study was to determine the relationship between noise and hypertension in Egyptian workers, the interaction of angiotensin-converting enzyme (ACE) gene polymorphisms as modifiers, and the possible relationship between noise hearing impairment and hypertension.

METHODS: Study subjects were divided into two groups depending on noise exposure level. The control group (n = 161) was exposed to noise intensity <85 dB and the exposed group (n = 217) was exposed to noise intensity ≧85 dB. A polymerase chain reaction was used to differentiate the various genotypes of ACE insertion/deletion (I/D) and ACE G2350A.

RESULTS: Noise significantly increased the likelihood of hypertension. Carriers of the genotypes AG, GG, and DD were vulnerable to hypertension on noise exposure. No association between hypertension and hearing impairment or noise-induced hearing loss (NIHL) was found.

CONCLUSION: Our results support the association between ACE gene polymorphisms and occurrence of hypertension in noise-exposed workers.

Persistent infection with hepatitis C virus (HCV) is a major cause of liver cirrhosis and subsequently liver cancer. Mannose-binding lectin 2 (MBL2) plays an important role in innate immunity, and its genetic polymorphisms are associated with deficient serum level of MBL2 and with frequent and prolonged infections. This study was undertaken to investigate the association between polymorphisms of MBL2 gene and hepatitis C virus infection and its association with response to treatment. We determined MBL2 gene polymorphism within exon 1 in 51 Egyptian patients with chronic hepatitis C virus infection and 49 healthy blood donors. MBL2 gene mutations were determined by means of polymerase chain reaction and restriction fragment length polymorphism analysis. Codons 52 and 54 mutant genotypes were significantly lower in HCV cases: odds ratio (OR) 0.28, 95 {%} confidence interval (CI) 0.10 to 0.76, pþinspace}=þinspace}0.012; and OR 0.15, 95 {%} CI 0.04 to 0.55, pþinspace}=þinspace}0.004, respectively. While codon 57 mutant genotypes were significantly higher in HCV cases: OR 4.54, 95 {%} CI 1.56 to 13.23, and pþinspace}=þinspace}0.006. MBL2 mutant genotypes at codons 52 and 54 are a protective factor for HCV infection, while MBL2 mutant genotypes at codon 57 are a risk factor for HCV infection. MBL2 D allele at codon 52 and B allele at codon 54 are a protective factor for HCV infection, while C allele at codon 57 is a risk factor for HCV infection.