Endocrine Abstracts

Introduction: The molecular research on rare diseases is limited by the availability of tissue samples that yield good quality RNA. Extraction of RNA from human pancreatic tissues are challenging due the high amount of ribonucleases.Aim: To compare the quality of RNA from fresh frozen (FF) and formalin fixed paraffin embedded (FFPE) human pancreatic samples of patients with congenital hyperinsulinism (CHI).Methods: Tissue samples w...

Introduction: Hyperinsulinaemic hypoglycaemia (HH), characterized by unregulated insulin secretion from pancreatic β-cells, is an important cause of hypoglycaemia in children. Mutations in the KATP channel genes (ABCC8/KCNJ11) are the most common cause of congenital HH. The second common cause, hyperinsulinism hyperammonaemia (HIHA) syndrome caused by mutations in GLUD1 gene, is associated with elevated serum ammonia and protein sensitivity. W...