Annals of Saudi medicine
-
Annals of Saudi medicine · Jan 2020
Genotype patterns for mutations of the cystic fibrosis transmembrane conductance regulator gene: a retrospective descriptive study from Saudi Arabia.
Cystic fibrosis (CF) occurs in populations in Saudi Arabia and the Gulf area. Approximately 2000 known variants have been identified for the CF transmembrane conductance regulator (CTFR) gene. Screening for ten of the most common variants can detect 80% of alleles. ⋯ None.
-
Annals of Saudi medicine · Jan 2020
Observational StudyMagnetic resonance imaging findings in patients with initial manifestations of perianal fistulas.
Crohn's disease (CD) is a serious cause of perianal disease and the incidence is increasing in Saudi Arabia. MR imaging may document specific features that may help to foresee Crohn's disease in patients making an initial presentation. ⋯ None.
-
Annals of Saudi medicine · Nov 2019
O6-methylguanine-DNA methyltransferase promoter methylation and isocitrate dehydrogenase mutation as prognostic factors in a cohort of Saudi patients with glioblastoma.
Treatment of glioblastoma (GB), the most common malignant primary brain tumor in adults, can include alkylating chemo-therapeutic agents. Two molecular biomarkers of treatment response are MGMT (O6-methylguanine-DNA methyltransferase) promoter methylation and IDH (isocitrate dehydrogenase) mutations, which prevent repair of tumor cell DNA damage caused by alkylating chemotherapy. The status of MGMT promoter methylation and IDH mutation are associated with longer survival and a better response to chemotherapy. ⋯ None.
-
Annals of Saudi medicine · Nov 2019
Prevalence of MEFV gene mutations in a large cohort of patients with suspected familial Mediterranean fever in Central Anatolia.
Familial Mediterranean fever (FMF), an autosomal recessive, autoinflammatory disease that is common in Arabs, Jews, Armenians and Turks, is caused by mutations in the MEFV gene, which encodes a protein called pyrin. The disease is characterised by recurrent fever, peritonitis, pleuritis, abdominal pain and arthralgia. ⋯ None.