Background: Hepatocellular carcinoma (HCC) is the most common primary malignant tumor of the liver.
Aim: This study aimed to assess serum human telomerase enzyme (hTERT) levels and their relation to the progression of liver disease. Also, it aimed to assess the effect of hepatitis C virus (HCV) core protein on memory T-cells in HCV patients with or without HCC and the correlation between memory cell phenotype and the progression of the disease in the same patients.
Background: Tay-Sachs disease (TSD), an autosomal recessively inherited neurodegenerative lysosomal storage disease, reported worldwide with a high incidence among population of Eastern European and Ashkenazi Jewish descent. Mutations in the alpha subunit of HEXA that encodes for the β-hexosaminidase-A lead to deficient enzyme activity and TSD phenotype. This study is the first to highlight the HEXA sequence variations spectrum in a cohort of Egyptian patients with infantile TSD.
View Article and Find Full Text PDFIonizing radiation is a double-edged sword because of its benefits and risks to human health. Therefore, protecting human organs from harmful effects of radiation is an important concern of researchers. Kefir, as a good source of probiotics, received growing interest in protective medicine owing to its antioxidant, anti-inflammatory, and immunomodulatory properties.
View Article and Find Full Text PDFMacrozoospermia is a rare syndrome. The key marker of the disease is a high percentage of spermatozoa with abnormal phenotypes namely enlarged head and multiple tails. The presence of at least 70% of spermatozoa with a large head is usually associated with Aurora kinase C gene (AURKC) mutations.
View Article and Find Full Text PDFThis study aimed at the detection of HSD17B3 gene mutations in Egyptian patients with suspected diagnosis of 46,XY DSD due to 17-β-HSD-3 deficiency and at evaluation of phenotype/genotype relationship of these mutations. The study was conducted on 11 patients of 10 families which were provisionally diagnosed to have 17-β-HSD-3 enzyme deficiency. Karyotyping, hormonal evaluation of testosterone, x0394;4-androstenedione, and dihydrotestosterone, and sequencing analysis of the 11 exons of the HSD17B3 gene were done.
View Article and Find Full Text PDFThis study aims to evaluate the diagnostic power of serum complements C3 and C4 in early detection of hepatocellular carcinoma (HCC) in HCV-infected patients with liver cirrhosis (LC). Twenty patients with HCC and twenty patients with chronic liver diseases (CLD) were recruited for the study. Twenty healthy non-HCV infected subjects were also included as negative controls.
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