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)

Exposure to chemicals has been shown to adversely affect CNS health in rodents and humans. The objective was to evaluate, in-vivo, the effects of trichloroethane (TCE), a ubiquitous environmental contaminant, on the integrity of neural cells. A group of albino mice was injected intraperitoneally twice weekly for three weeks with TCE (100 and 400 µg/kg). Animals were followed up for signs of toxicity and death. Alterations in neural tissues have also been investigated by histopathology The results showed a large number of degenerative neural cells (pyknosis of nuclei, DNA fragmentation, chromatin condensation) in the 100 and 400 µg/kg TCE-treated groups comparing to controls. Although there were no significant effect on the neural cell counts, the pattern of increased degenerative cells in TCE-treated groups was higher compared to controls. The results also showed that TCE led to a significant increase in the percent of degenerative neurons. There was also a significant reduction in the percent of neurons. These results correlated with the increase in the percent of glia. This study indicates that TCE exposure had detrimental impact on neural cells, and that neurons are more vulnerable to TCE than glia in this in-vivo mouse model.
Mohamed A. Al-Griw, Naser M. Salama, Soad A. Treesh, Lubna N. Algadi, Abdul hakim Elnfati(7-2015)

Objectives: Tobacco use in all its forms represents a very well-known preventable risk factor for cardiovascular diseases (CVD). Alteration of plasma lipids levels is one of the mechanisms by which it causes CVD. In addition, there are controversial reports linking tobacco use with diabetes. This case-control study is aiming to investigate the interrelationship between tobacco use and BMI, lipid profile, and plasma glucose in Libyans residing in Tripoli region. Methods: The study was conducted on 200 healthy male subjects, including, 50 non-smokers aged 40.98±8.07, 50 cigarette smokers aged 41.32±7.39, 50 water-pipe users aged 42.04±7.39, and 50 snuff inhalers aged 39.36±7.00. BMI was estimated as (kg/m 2), lipid profile and fasting plasma glucose were estimated in triplicate by enzymatic colorimetric method and expressed as (mg/dL). Results: Our results showed that BMI is significantly higher in tobacco users than non-smokers (P 0.0001). Total cholesterol and triacylglycerols are significantly higher in tobacco users (P 0.0001). HDL is significantly higher in non-smokers (P 0.0001). LDL not affected by tobacco use (P 0.32). Fasting plasma glucose significantly higher in tobacco users (P 0.0001). Conclusions: In conclusion, tobacco use affects the BMI, lipid profile, and glucose which are components of the metabolic syndrome in the Libyan males population. arabic 31 English 133
H Alemam, Abdulla Bashein, (1-2015)