Endocrine Abstracts

Background: X-Linked Hypophosphataemia (XLH) is a rare, progressive, hereditary phosphate wasting disorder characterised by a pathological increase in fibroblast growth factor 23 concentration/activity. Despite XLH being increasingly recognised as a chronic progressive disease, there are few data documenting its natural history or impact of treatment. The International XLH Registry will collect data to characterise burden of disease, disease progression and long-term outcomes....

Polycystic Ovary Syndrome (PCOS) is currently believed a common endocrine-plurimetabolic disorder often associated to insulin resistance, diabetes mellitus, hypertension, hyperandrogenism, dyslipidemia and obesity, pathological conditions predisposing to high cardiovascular risk. Oxidative stress and endothelial dysfunction could represent early mechanisms of the cardiovascular risk in patients with PCOS. In order to confirm this hypothesis, 25 young (23.8±1.3 yr), over-w...

BRAFV600E mutation is the most frequent genetic alteration (29–83%) of papillary thyroid carcinoma (PTC). Many authors have demonstrated that the presence of the mutation is associated with a more advanced tumor stage at diagnosis and a worse outcome but anyone assessed if BRAFV600E mutation could be useful prognostic marker in low risk PTC patients (T1-T2N0M0, 7th TNM classification).Aim of this study was to evaluate if the presence of BRAFV600E mu...

The exposure of cells to high glucose concentrations is considered a determinant of diabetic neuropathy. Conversely, members of the Insulin-like Growth Factor (IGF) system are well known neurotrophic factors. Here, we investigated the effects of constant and intermittent high glucose concentrations on IGF-I and IGF Binding Proteins (IGFBPs) in human neuroblast long-term cell cultures (FNC). We first demonstrated that FNC express the IGF-I receptor, and express and release in t...

Although 20% of follicular neoplasms are papillary thyroid carcinoma (PTC), their cytological diagnosis is not diagnostic. A different profile of gene expression between malignant and benign thyroid tumors has been reported. Aim of this study was to identify a gene expression profile to be used in distinguishing malignant from benign thyroid neoplasms. By real-time RT-PCR we analyzed mRNA expression of 6 thyroid differentiation genes (TTF-1, PAX8, TPO, TSHr, NIS and Tg) and 5 ...

BRAFV600E is the most common mutation in papillary thyroid carcinoma (PTC). Anatomo-patology and clinical features of PTC with BRAFV600E are well described in literature.Aim of this study was to examine the prognostic significance of BRAFV600E in patients with PTC and a follow-up of 15-20 years.Genomic DNA was purified from 67 paraffin-embedded tumoral tissue. A PCR-SSCP analysis of exon 15 of BRAF ...