Endocrine Abstracts

Background: The H-syndrome is a recently described very rare monogenic systemic autoinflammatory autosomal-recessive genodermatosis with young onset of diabetes without evidence of autoimmunity. It is caused by mutations in the SLC29A3 gene, which encodes the equilibrative nucleoside transporter hENT3.Objectives: To study the clinical features and confirm the genetic diagnosis in a subject with young onset of diabetes.Subject and m...

Introduction Vascular adhesion protein-1 (VAP-1) is a known driver of hepatic inflammation and fibrosis, with elevated levels detected in the circulation in disease. We studied the tissue expression of VAP-1 in midgut NETs and carcinoid heart disease (CHD) alongside circulating soluble VAP-1 (sVAP-1) to determine the role of VAP-1 in NETs.Methods Expression of VAP-1 and inflammatory and stromal markers in midgut NETs tissue, CHD valves and control valves...