Severe neurological manifestations in an Egyptian patient with a novel frameshift mutation in the Glutaryl-CoA dehydrogenase gene.

To characterize an Egyptian patient with glutaric acidemia type I (GA I) and to identify the causative mutation(s) that may be responsible for the disease phenotype. MRI was performed on the patient using the 1.5 T magnet, biochemical analysis was carried out using gas chromatography/mass spectrometry on the patient's dried blood spot, and the patient's organic acids were measured in dried blood and a urine sample using MS/MS and GC/MS, respectively.

Female genital mutilation/cutting: will it continue?

Introduction: Female genital mutilation/cutting (FGM/C) is a prevalent, deeply rooted traditional practice in Egypt.

Aims: Specification of the motives behind the continuation of FGM/C in Egyptian community and evaluation of the sexual function in women with FGM/C.

Methods: This cross-sectional study, involved 2,106 sexually active female participants with FGM/C.