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. Total RNA was isolated from the patient's peripheral blood, and the synthesized cDNA was bi-directionally sequenced. The patient exhibited clinical features and MRI findings compatible with a diagnosis of GA I. The abnormal elevation of organic acids in the urine supported the presence of glutaryl-CoA dehydrogenase deficiency. Gene sequencing revealed a novel homozygous frameshift mutation, c.644_645insCTCG; p.(Pro217Leufs*14), in exon 8 of the GCDH gene. The present study revealed a novel frameshift mutation responsible for a severe GA I phenotype in an Egyptian patient. This novel mutation will ultimately contribute to a better understanding of the molecular pathology of the disease and shed light on the intricacies of the genotype-phenotype correlation of GA I disease.

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. Full history-taking and general examination to evaluate the type of FGM/C were conducted. Sexual function was assessed by using the Female Sexual Function Index (FSFI) questionnaire. MAIN OUTCOME MEASURES: Enumerate and specify the motivational factors and its percent among the participants. The correlation between FGM/C and FSFI domain scores was done with Pearson's correlation. RESULTS: Tradition, cleanliness, and virginity were the most common motives empowering the continuation of FGM/C (100%), followed by men's wish, esthetic factors, marriage, and religion factors (45.2-100%). Type I FGM/C was the most common, followed by type II. There was only negative correlation between the type II FGM/C and sexual satisfaction. No statistically significant difference between type I and non-FGM/C was found. CONCLUSIONS: FGM/C remains high. A variety of socio-cultural myths, religious misbelievers, and hygienic and esthetic concerns were behind the FGM/C. Overall, a large proportion of the participants supported the continuation of FGM/C in spite of adverse effect and sexual dysfunction associated with FGM/C.