Endocrine Abstracts

Introduction: Williams syndrome (WS) is a rare, multisystemic genomic disorder. While the natural history of the disease in childhood is quite well-known, few descriptions of the adult WS medical complications have been published.Method: Twenty-two young adult patients with WS (13 females, 9 males, age: 29.2±5.4 years) were studied. A 75 g oral glucose tolerance test (OGTT) was performed in all but one with known diabetes mellitus (DM). β-Cell ...

In order to evaluate hypothalamic-pituitary-adrenal activity in diabetic patients in relation to neuroautonomic balance, we studied 50 consecutive hospitalized T2D patients (22F, 28M) without symptoms of neuropathy or hypercortisolism. We measured: morning, midnight and post-dexamethasone suppression cortisol (F8, F24 and F-Dex respectively) 24-hours urinary free cortisol (UFC), morning ACTH, systolic and diastolic blood pressure levels (SBP, DBP) and performed deep-breathing ...

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...

Introduction: Patients with adrenal incidentalomas (AI) and subclinical hypercortisolism (SH) are thought to have increased incidence of cardiovascular risk factors, including diabetes mellitus (DM) and hypertension. Data regarding dyslipidemia are scarce. The aim of this study is to evaluate the possible influence of SH on lipid pattern in relation to the presence/absence of DM.Methods and design: 276 AI patients were enrolled (168 F, 108 M), 55 with di...

Background: Impaired glucose (G) regulation (IGR) and diabetes mellitus (DM) are common in patients with liver cirrhosis. DM development has been associated to advanced liver disease (LD) and HCV infection. The relative roles played by insulin secretion and action, advanced LD and HCV infection in DM are somewhat unclear.Aim of the study: To assess in cirrhotic patients candidate to organ transplantation with no history of G abnormalities: i) prevalence ...

Background: Metabolic syndrome (MS) is a common condition among liver transplanted patients and it contributes to late morbidity and mortality by favoring the development of cardiovascular disease (CVD).The aim of this study was to assess the prevalence of MS in the first 6 months after orthotopic liver transplantation (OLT) and the associated pre-operative and post-operative risk factors.Methods: Seventy-one cirrhotic patients wer...

Previous studies suggest that in patients with adrenal incidentalomas (AI) subclinical hypercortisolism (SH) exerts a deleterious effect on bone mineral density (BMD), but scarce data are available about vertebral fractures. We evaluate BMD and prevalence of vertebral fractures in a sample of AI subjects with and without SH.Forty-seven consecutive AI inpatients were evaluated (17M, 30F). The patients were subdivided into two groups: with or without subcl...