Endocrine Abstracts

Background: A normal islet includes both mature and immature β-cells, with the former possessing higher insulin content and the latter displaying better proliferative capacity. However, it remains unknown whether immature β-cells also contribute to the regulation of insulin release, especially by commanding the activity of their mature counterparts.Materials and methods: Pdx1, Mafa, and Ngn3 were overexpressed in &#94...

Background: Phaeochromocytomas and paragangliomas are familial in up to 25% of cases and can result from succinate dehydrogenase (SDH) gene mutations.Objective: To describe the clinical manifestations of subjects with SDH-B gene mutations.Design: Retrospective case series.Patients: Thirty-two subjects with SDH-B gene mutations followed-up between 1975 and 2007. Mean follow-up of 5.8 years (S.D....

ApoB isoforms are components of the chylomicron, and of the atherogenic LDL and Lp(a) particles. Ex26 is exceptionally long at 7.57kb as most exons are <500bp. Ex26 is also the site of RNA editing, which generates the ApoB48 isoform instead of ApoB100. The first 3kb of ex26 contains 15 sequences matching the splice site consensus, which could be used in splicing, but are not. Splice sites matching the consensus but which are not used are called pseudosites. How the spliceos...

Background: Mutations in succinate dehydrogense-B (SDH-B) or von Hippel Lindau (VHL) genes can result in chromaffin tumours.Objective: To compare the clinical phenotypes of subjects developing chromaffin tumours as a result of SDH-B or VHL mutations.Subjects: Thirty-one subjects with chromaffin tumours. Sixteen subjects had SDH-B gene mutations and 15 subjects had a diagnosis of VHL.<p ...

Aim: Vitamin D-binding protein (DBP), also known as GC-globulin, transports vitamin D metabolites and is also a major actin scavenger. While DBP serum levels, gene polymorphisms and autoantigens have been associated with diabetes risk, the underlying mechanisms remain unknown. DBP is produced by the liver, but has recently been shown to be highly expressed in pancreatic α-cells. We therefore sought to investigate the role of DBP in α-cell identity and function using ...

Prior to therapy, patients choosing I131 therapy for the treatment of Grave’s disease were pre treated with carbimazole. Post I131 they have their thyroid function checked monthly in primary care prior to clinic review at 3 months. Carbimazole can be restarted if clinically indicated and treatment with thyroxine was recommended if their TSH was greater than 3.5 mU/l (ref range 0.35–5.5). A previous audit had demonstrated that 24% of patients had an elevated TSH great...

Adverse health outcomes in survivors of childhood cancers are well recognised. Optimal models of care and their effectiveness in improving outcomes are not yet well established. As a National Cancer Survivorship Initiative test site, we have been working to improve local service provision. We have established transitional and adult ‘late effects’ clinics, developed a local database of survivors and pro-actively sought out those who were ‘lost to follow-up’....

B-type natriuretic peptide (BNP) is a hormone secreted from the heart in response to volume load and serves clinically as a reliable biomarker in the diagnosis of cardiac dysfunction and heart failure. As patients with heart failure present an increased risk for developing diabetes, we aimed to investigate the role of BNP on parameters of glucose metabolism in a placebo-controlled crossover study performed in 10 healthy volunteers (25±1 years; BMI 23±1 kg/m2</su...

Mitogenic signaling by receptor tyrosine kinases that involve increased activity of phosphatidylinositol-3-kinase (PI3K) and over-activation of protein kinase B (PKB/Akt) triggers a cascade of responses that drive tumour progression in a variety of human cancers. Some of these events have been associated with diminished expression of the cell cycle inhibitor p27 through inhibition of a Forkhead transcription factor (FKHR-L1) by Akt, while some others have recently been reporte...

Introduction: Family hypobetalipoproteinemia (HBF) is a rare genetic disorder, in 50% of cases are due to mutations APOB gene, which leads to decreased values of total cholesterol, low density lipoprotein (LDL-cholesterol) and apo-B. It is inherited as an autosomal dominant and heterozygous carriers are usually asymptomatic.Clinical case: Thirty-two-year-old male with abdominal pain and diarrhea associated with food, no relevant history and physical exam...