Endocrine Abstracts

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 ...

Objective: Succinate dehydrogenase B (SDHB) germline mutations are associated with predominantly extra-adrenal paraganglioma (PGLs) and high rates of metastatic disease. Bladder paragangliomas are a rare form of chromaffin cell tumours arising from the bladder wall. The aim of the study is to highlight the preponderance of bladder paragangliomas associated with SDHB gene mutations.Design: Retrospective case series.Patients: Five of...

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...

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....

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...

Aim: In this study, we aimed to evaluate ABO blood groups and Rh factor in patients with thyroid cancer. We also assessed whether the ABO/Rh factor had any effect on prognosis, agressive features and advanced stage of thyroid malignancies.Methods: Medical records of patients who underwent thyroidectomy between December 2006 and September 2014 were evaluated retrospectively. Demographical and clinical features, cytological results (according to Bethesda c...

Context: High maternal TSH and/or low FT4 during pregnancy is associated with an increased risk of premature delivery. hCG is the main determinant of thyroid function changes during pregnancy but has a versatile pattern with high inter and intra-individual variability. We hypothesised that the correct interpretation of thyroid function tests and its use in the risk assessment of premature delivery during pregnancy depend on hCG levels.Design, ...

It has been known for a long time that both hypo- and hyperthyroidism are associated with an increased risk of morbidity and mortality. In recent years, it has also become clear that minor variations in thyroid function, including subclinical dysfunction and even variation in thyroid function within the reference range, can have important effects on clinical endpoints, such as bone mineral density, depression, metabolic syndrome, and cardiovascular mortality. Serum thyroid par...