Abstract: Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder of lipid metabolism, associated with elevated levels of low-density lipoprotein-cholesterol (LDLC), which can lead to premature cardiovascular disease and early death. Early diagnosis and initiation of treatment is important to prevent morbidity and mortality. Autosomal dominant hypercholesterolemia (ADH) is largely due to mutations in the low-density lipoprotein receptor gene (LDLR), the apolipoprotein B-100 gene (APOB), or the proprotein convertase subtilisin/kexin type 9 (PCSK9). In this study, genomic DNA of unrelated Libyan individuals with clinically diagnosed (FH) was analyzed by direct sequencing after dependent specific PCR primers amplification and DNA purification. That led to the identification of PCSK9 gene mutations for the first time in Libyan population which was compare to other populations. All 12 exons of PCSK9 gene and boundaries genotyped polymorphisms were sequenced, including leucine repeats coded in exon 1, by fluorescently tagged markers. We identified an allele for the rs67610340 polymorphism: an in-frame deletion, c.61_63delCTG (L8). We also identified another allele rs67610340 polymorphism: an in frame insertion c.61_63InsCTG (L10). The insertion and deletion alleles were both in exon 1 and could be associated with a risk and severity of coronary artery disease (CAD), suggesting a direct effect of PCSK9 on atherogenesis. arabic 11 English 90
Ghada Salem, Ahmed Zaid(1-2017)

Introduction: Extended-spectrum β-lactamases (ESBLs), including the AmpC type, are important mechanisms of resistance among Klebsiella pneumoniae and Escherichia coli isolates. Objective: The aim of the study was to investigate the occurrence of AmpC-type β-lactamase producers isolated from two hospitals in Tripoli, Libya. Methods: All clinical isolates (76 K. pneumoniae and 75 E. coli) collected over two years (2013-2014) were evaluated for susceptibility to a panel of antimicrobials and were analyzed phenotypically for the ESBL and AmpC phenotype using E-test and ESBL and AmpC screen disc test. Both ESBL and AmpC-positive isolates were then screened for the presence of genes encoding plasmid-mediated AmpC β-lactamases by polymerase chain reaction (PCR). Results: Of the K. pneumoniae and E. coli tested, 75% and 16% were resistant to gentamicin, 74% and 1.3% to imipenem, 71% and 12% to cefoxitin, 80% and 12% to cefepime, 69% and 22.6% to ciprofloxacin, respectively. None of the E. coli isolates were multidrug resistant compared with K. pneumoniae (65.8%). K. pneumoniae ESBL producers were significantly higher (85.5%) compared with (17.3%) E. coli isolates (P
Abdulaziz Zorgani, Abdulla Bashein(1-2017)

Objective: The aim of the study was to look at the long-term effects of conservative management of odontoid peg fractures. Methods: We reviewed 48 consecutive patients with type II (32) and 16 type III, odontoid peg fractures. The clinical & radiological outcomes were assessed over an average period of follow up of 8 years. Union rate was determined and we discussed several factors that may affect it. Patients were treated conservatively with an average period of bed rest of 4 weeks followed by bracing for an average of 9 weeks. Results: Bony unionwas established in 25 of 32 (78%) type II fractures. Of 7 cases of no bony union 4 were stable probably with fibrous union. 3 remained unstable. In 13 of 16(83%) type III fractures bony union was established. 2 of the 3 with no bony union were considered stable. Conclusion: Osseous non-union was higher in patients with displacement of >5mm, but there is no correlation between union and age, gender or angulation of the fracture in both types. arabic 10 English 60
Nabil A. Alageli(6-2017)