Acinetobacter baumannii is an opportunistic pathogen causing various nosocomial infections. The aim of this study was to characterize the molecular support of carbapenem-resistant A. baumannii clinical isolates recovered from four hospitals in Tripoli, Libya. Bacterial isolates were identified and antibiotic susceptibility testing was per-formed using automated system. Carbapenem resistance determinants were studied phenotypically using two dif-ferent techniques: E-test; chromogenic culture media. Polymerase chain reaction (PCR) amplification was used to determine the presence of bla OXA23 and blaOXA51 genes among isolates. A total of 119 isolates were characterized, overall the resistance prevalence was extremely high for aminoglycosides (79-96.6%), fluoroquinolones (94-96%), cephalosporins (96.6-100%) and carbapenemes (93.2-100%), all isolates were susceptible to colistin. In addition, 97.5% of isolates were identified as multidrug resistance (MDR). Varying degree of phenotypic detection of car-bapenemes was determined; highest levels of carbapenemes were detected using chromogenic media (76.5%) com-pared with E-test (45.4 %). The carbapenem resistance-encoding genes detected were blaOXA23 (84%) and blaOXA51 (73.1%); the highest occurrence of blaOXA23 was demonstrated in Tripoli’s Central Hospital (5/5; 100%) then in Tripoli Medical Center (44/51; 86.27%). The co-occurrence of these genes was demonstrated in (75/119; 63%) showing dissemination of carbapenemes resistance MDR A. baumannii in hospitals. This study shows that the high prevalence of OXA-23 contribute to antibiotic resistance in … arabic 14 English 113
Nada Elgrew, Abdulla Bashein(1-2016)

Background: Phenylketonuria (PKU) is one of the most common inborn errors of amino acids metabolism. It is an autosomal recessive disease that is caused by mutations in phenylalanine hydroxylase (PAH) gene. In the North Africa and Eastern Mediterranean region, E280K missense mutation and c.1055del.G frameshift mutation in PAH gene are one of the most common pathogenic mutations seen in PKU patients. Materials and Methods: In this study, we developed molecular protocols for rapid screening of the PKU patients for these two mutations. These protocols are based on hydrolysis probe real-time polymerase chain reaction technique using allele-specific probes labeled with 6-carboxyfluorescein (FAM) for wild-type (WT) and hexachloro-6-carboxyfluorescein (HEX) for mutant genotypes and Black Hole Quencher 1 as a quencher and high-resolution melting analysis using EvaGreen saturating dye. Results: There was complete accordance between the developed protocols in differentiating genotypes and they proved to be rapid, sensitive, and efficient for the detection and differentiation between WT, mutant, and heterozygous genotypes of the E280K and c.1055del.G mutations. Conclusions: These protocols allow easy molecular screening of the mutations studied among the families of affected people, especially for premarital screening. arabic 27 English 170
Abdulla Bashein(1-2017)

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)