Endocrine Abstracts

Background: In Graves’ disease, immune cellular mechanisms and cytokine release, as well as auto-antibody production found in the serum, most likely contribute to the development of thyroid eye disease (TED). Biosynthesis of neopterin is closely associated with activation of the cellular immune system and could be a valuable marker of the severity of the disease.Objectives: To assess whether serum neopterin concentrations in patients with TED are a ...

The incidence of GNT appears to be increasing, what can be explained by the increased detection caused by the common use of the endoscopy and the pervasive use of acid suppressive therapy leading to enterochromatofine like cells proliferation. There are numerous new diagnostic/therapeutic GNT methods in use like: EUS, SRS, somatostatin therapy and 90Y/177Lu-DOTA-TATE radiotherapy.Materials and methods: In 1998–2007, 25 patients were diagnosed with t...

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 ...

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...

The control of the onset of human puberty remains an enigma. According to current understanding, the ‘GnRH pulse generator’, a functionally interconnected and synchronized network of GnRH neurons, is inhibited throughout childhood following a period of pubertal level activity during fetal life. Release of this inhibition at the early second decade of life signifies the reawakening of the pulse generator.Recently, we have identified loss-of-func...