Background: Thiopurine S-methyltransferase (TPMT) is a cytosolic enzyme that catalyses the S-methylation of 6-mercaptopurine and azathioprine. Low activity phenotypes are correlated with polymorphism in the TPMT gene. Patients with low or undetectable TMPT activity could develop severe myelosuppression when they are treated with standard doses of thiopurine drugs. Since ethnic differences in the TPMT gene polymorphism have been demonstrated worldwide, assessing it in the Libyan population is worthwhile. Methods: We investigated TPMT gene polymorphism in a total of 246 Libyan healthy adult blood donors from three different Libyan regions (Tripoli, Yefren, and Tawargha) and 50 children with acute lymphoblastic leukaemia (ALL). We used polymerase chain reaction restriction length polymorphism (PCR-RFLP) and allele-specific PCR-based assays to analyse the TPMT gene for the variants* 2 c. 238 G> C,* 3A (c. 460 G> A and c. 719 A> G),* 3B (c. 460 G> A), and* 3C (c. 719 A> G). Results: Our results show that the TPMT variants associated with low enzymatic activity were detected in 3.25%(8 in 246) of adult Libyan individuals and the frequency of total mutant alleles was 1.63%. Heterozygous genotypes were TPMT* 3A in three subjects (0.61%) and TPMT* 3C in five subjects (1.02%). No TPMT* 2 and TPMT* 3B allelic variants and no homozygous or compound heterozygous mutant alleles were detected. The normal allele (wild-type) was found in 98.4% of the adult individuals studied. No mutant alleles were detected among the 50 children who had ALL. arabic 10 English 74
Hamza Ben Zeglam, Abdulla Bashein, (1-2015)

ABSTRACT We reviewed 48 consecutive patients with type II (32) and type III (16), odontoid peg fractures. The clinical & radiological outcomes were assessed over an average period of follow up of 6.8 years. Union rate was determined and we discussed several factors that may affect it. Patients were treated conservatively with initial bed rest with or without cervical skeletal traction followed by bracing for an average of 9 weeks. Results: Bony union was established in 25 of 32 (78%) type II fractures. Of 7 cases with 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. 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. Conclusion: non-surgical management of odontoid fractures remain a viable option in the management of these fractures arabic 9 English 60
Nabil A. Alageli(1-2017)

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)