Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common genetic kidney disorders with the incidence of 1 in 1,000 births. ADPKD is genetically heterogeneous with two genes identified: PKD1 (16p13.3, 46 exons) and PKD2 (4q21, 15 exons). Eighty five percent of the patients with ADPKD have at least one mutation in the PKD1 gene and fifteen percent of the patients have one mutation in PKD2 gene. Direct sequencing of one patient and his sequence of PKD1 gene demonstrated a missense mutation GCC----CCC substitution in exon 13 with cause change amino acid of Alanine to Proline at codon 1029. Three brothers have deletion mutation in exon 15, one patient missense mutation GGC---GCC in exon 19 which cause change amino acid of Glycine to Alanine at codon 2530. Molecular diagnostics of ADPKD relies on mutation screening of PKD1 and PKD2, which is complicated by extensive allelic heterogeneity and the presence of six highly homologous sequences of PKD1. PCR strategy was used to screen sequence variants with heteroduplex analysis and several affected individuals were discovered to have clusters of base pair substitutions in exons 13 and 19 with del 20 pb (3601-3620) in exon15. arabic 14 English 81
Refaat Tabagh, Ahmed Zaid(1-2018)

OBJECTIVE: The increasing prevalence of suspected cases of coronavirus disease 2019 (COVID-19) presenting to emergency departments (EDs) requires a rapid and reliable triaging tool. The diagnostic performance of chest computed tomography (CT) has yet to be validated for triaging cases in the ED. We aimed to assess the diagnostic performance of chest CT compared to GeneXpert Xpress Xpert severe acute respiratory syndrome coronavirus 2 test in rapidly diagnosing COVID-19 among patients with respiratory symptoms presenting to the ED. MATERIALS AND METHODS: This was a retrospective, single-center study at Tripoli University Hospital including cases with respiratory symptoms who underwent chest CT as well as polymerase chain reaction (PCR) testing for suspected COVID-19 between May 18 and August 18, 2020. RESULTS: A total of 1240 cases were included, among whom 570 had radiologically evident COVID-19 on chest CT (46%). Five hundred and sixty-five cases had positive PCR results (45.6%), of whom 557 had radiologically evident COVID-19 on chest CT (97.7%). The calculated accuracy, sensitivity, specificity, positive predictive value, and negative predictive value were 98%, 98.5%, 98%, 97.7%, and 98.8%, respectively, in relation to the PCR results. CONCLUSION: During the current pandemic, chest CT is a quick and reliable diagnostic tool for COVID-19 in the ED.
Nader Shalaka(11-2021)

Background and Aims: Hereditary hemochromatosis (HH) is an autosomal recessive disorder, characterized by increased intestinal absorption of iron. Excessive amount of iron accumulates in the liver, pancreas, and heart, etc., and eventually leading to organ failure due to iron toxicity and death if untreated. The most common causes of HH are the C282Y and H63D mutations in HFE gene. This study aimed to identify the prevalence of H63D and C282Y alleles among the Libyan population in Tripoli region and to compare the results with other published data. Materials and Methods: This study included 300 randomly selected unrelated Libyan male blood donors, aged between 18 and 50 years. In‑house hydrolysis probe real‑time polymerase chain reaction and high‑resolution melting analysis protocols were developed and employed as screening tools for H63D and C282Y genotyping, respectively, and direct DNA sequencing was used to confirm the results. Results: Seven subjects (2.33%) were detected as homozygous H63D mutation and 72 (24%) were detected as heterozygous, and only one subject was detected as a heterozygous C282Y mutant (0.33%) and no homozygous C282Y mutation was detected. Conclusion: In Libyans residing in Tripoli region, the allele frequency of C282Y was very rare and allele frequency of H63D was common arabic 17 English 89
Laila Mohamed Elghawi, Abdulla Bashein(7-2021)