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)

Background Familial hypercholesterolemia (FH) is a well-understood Mendelian disorder that increases the risk of cardiovascular disease (CVD), a leading cause of mortality in Middle Eastern and North African (MENA) countries. Objective Review the reporting status of FH mutations across MENA and propose a systemic and strategic method for building a MENA FH registry. Methods Systematic literature search for statistics pertaining to CVD and comparison of number of FH mutations reported in MENA countries and countries with established FH registries. Results Only 57 mutations were reported in 17 MENA countries, whereas more than 500 mutations reported in 3 Western countries. Mortality rates due to CVD were significantly higher in MENA countries compared with Western countries. Conclusions The relatively low reporting of FH mutations in the consanguineous MENA communities with higher prevalence of arabic 17 English 101
Mary Aderayo Bamimore, Ahmed Zaid(1-2015)

Aim– This paper aims to review the existing literature relevant to the subject of ISO/IEC 17025 within Arabic countries and Libyan Research Centres Laboratories (LRCL), especially to the Critical Success Factors (CSFs) that effect the implementation of ISO/IEC 17025 standards. Therefore, a review of the literature revealed a major gap in studies in this area of quality standards for testing and calibration laboratories. Methodology– The aspects listed were based on a review of the literature. This paper summaries the key findings result within LRCL using SWOT and Template analysis to analyse the data collected from existing literature and LRCL data. Findings –The findings revealed that despite some organisations have faced challenges undertaking ISO/IEC 17025 implementations, many others have enjoyed the benefits that the systems have brought to the organisations. Outcomes of the research are important for Arabic and Libyan organisations implementing ISO/IEC 17025 systems and for consulting companies assisting with ISO/IEC 17025 implementation. The distribution of the current study results will lead to knowledge transfer and help organisations, among Arabic and developing countries including Libya, in the process of achieving standardisation. Originality, Value – The novelty of this research paper stems from the realisation of critical factors determining a successful implementation of ISO/IEC 17025 within research centers and Laboratories in Arabic countries and LRCL. The originality and value of this research paper is to fill the gap in knowledge in this area, which is explicit to the Arabic countries and Libya in particular. In addition, it contributes to the literature and professional practice by offering new insights into the CSFs for the implementation of ISO/IEC 17025 in Arabic countries and LRCL.
Anwar Salih Ali Al-mijrab, Maged Elmabruk Elgharib, Mohamed A. Al-Griw(5-2019)