The hot spot mutation P291fsinsC was identified for the first time in a 26 years old Tunisian woman. The low serum level of high C-reactive protein was helpful to target the HNF1A gene. Due to the molecular diagnosis, the change from insulin to sulfonylurea therapy was performed successfully.
View Article and Find Full Text PDFWe present an update of knowledge on diabetes MODY (maturity onset diabetes of the young), including the recent molecular discoveries, and new diagnostic strategies. Considerable progress has been made in understanding the different molecular abnormalities that cause MODY and the phenotypic consequences resulting therefrom. MODY diabetes is very heterogeneous and is the most common form of monogenic diabetes.
View Article and Find Full Text PDFBackground: In beta-thalassemia major impaired biosynthesis of beta globin leads to accumulation of unpaired alpha globin chain. An iron overload, usually observed, generates oxygen-free radicals and peroxidative tissue injury.
Aim: To investigate hematological parameters, oxidative stress and the antioxidant capacity in beta-thalassemia patients compared to control subjects in order to determine their impact in several organs functions.