Searchable abstracts of presentations at key conferences in endocrinology

ea0081p288 | Calcium and Bone | ECE2022

Tumour induced osteomalacia: 2 years treatment with burosumab

Aliberti Ludovica , Pontrelli Margherita , Verrienti Martina , Gagliardi Irene , Zatelli Maria Chiara , Ambrosio Maria Rosaria

Introduction: Tumor-induced osteomalacia (TIO) is a paraneoplastic syndrome due to an overproduction of fibroblast growth factor 23 (FGF23) by small and benign mesenchimal tumors. FGF23 increase causes hypophosphatemia, osteomalacia and muscle weakness. TIO is usually cured by tumour resection, but neoplasms may be unidentifiable/unresectable or the patient may refuse surgery. In these cases, medical treatment with high doses of oral phosphate and calcitriol is mandatory, even...

ea0081ep1190 | Late Breaking | ECE2022

NanoLuc® Binary Technology to explore the mechanism of action of a Magmas inhibitor

Borges de Souza Patricia , Gagliardi Irene , Ambrosio Maria Rosaria , Bondanelli Marta , Zatelli Maria Chiara

Introduction: Magmas encodes for an integral constituent of the TIM23 translocase complex located in the mitochondrial inner membrane that drives proteins from the intermembrane space into the mitochondrial matrix by functionally interacting with Tim14. We previously demonstrated that Magmas silencing is able to sensitize ACTH-secreting mouse pituitary adenoma cells to pro-apoptotic stimuli, reduce DNA synthesis, accumulate cells in G0/G1 phase with concomitant decrease in S p...

ea0020p209 | Endocrine tumours and neoplasia | ECE2009

R171Q MEN1 polymorphism in patients presenting with hyperparathyroidism

Zatelli Maria Chiara , Filieri Carlo , Tagliati Federico , Ambrosio Maria Rosaria , degli Uberti Ettore

The change of aminoacid Arginine (CGG) to Glutamine (CAG) at position 171 (R171Q) in the MEN1 gene has been occasionally reported in MEN1 carriers, but also in 1.4 to 5% subjects among the general population, therefore it is still unclear whether it might represent a polymorphism and/or it has a role in tumourigenesis. The aim of our study was to evaluate the presence of the R171Q polymorphism in patients with MEN1-related states presenting for MEN1 genetic screening. F...

ea0020p592 | Neuroendocrinology, Pituitary and Behaviour | ECE2009

Glucose metabolism alterations in acromegaly

Ambrosio Maria Rosaria , Malaspina Alessandra , De Paola Grazia , Bondanelli Marta , Zatelli Maria Chiara , degli Uberti Ettore

Glucose metabolism alterations are frequently observed in acromegalic patients. Somatostatin analogues (SSTA) are the most widely used drugs to treat acromegaly, since they inhibit GH and IGF-1 levels, reduce pituitary mass, but can affect glucose metabolism. Aim of our study was to evaluate glucose metabolism alterations in acromegalic patients cured after surgery and in patients with active disease during treatment with SSTA. We studied 10 patients (group A, 5F, 55.66±1...

ea0073pep15.3 | Presented ePosters 15: Late Breaking | ECE2021

TGF-β increase caspase activation and migration in typical bronchial carcinoids

Patricia Borges de Souza , Gagliardi Irene , Martelli Mariano , Ambrosio Maria Rosaria , Maria Chiara Zatelli

IntroductionTypical bronchial carcinoids (TBC) are rare well-differentiated neuroendocrine neoplasms (NEN) of the lung whose management can still be very challenging. In fact, the gold-standard treatment for TBC is total resection of the primary tumour; however, in case of metastatic disease adjuvant therapy with the mTOR inhibitor everolimus (eve) might be recommended. Unfortunately, prognosis may be very poor in cases showing moderate response rates to...

ea0081p555 | Calcium and Bone | ECE2022

Thalassemia major: prevalence and risk factors for hypercalciuria

Aliberti Ludovica , gamberini maria rita , ziggiotto andrea , verrienti martina , Gagliardi Irene , Zatelli Maria Chiara , Ambrosio Maria Rosaria

Introduction: Thalassaemia syndromes are a group of inherited haemolytic disorders determining chronic anaemia, iron overload and organ damage (through the production of ROS), necessitating of iron chelation therapy. Nowadays, there is scant knowledge on hypercalciuria in thalassaemic Western patients. Therefore, aim of our study was evaluating the prevalence of hypercalciuria and identifying risk factors and clinical consequences associated with its development.<p class="...

ea0032p540 | Endocrine tumours and neoplasia | ECE2013

PKCδ plays an important in regulating human medullary thyroid carcinoma cell viability

Mole Daniela , Gentilin Erica , Gagliano Teresa , Tagliati Federico , Ambrosio Maria Rosaria , degli Uberti Ettore , Zatelli Maria Chiara

Protein kinase C (PKC) is a family of serine-threonine kinases that regulate many cellular processes including proliferation and survival. Previous evidence has shown that PKC is involved in the control of human medullary thyroid carcinoma (MTC) proliferation and survival by modulating apoptosis, with a mechanism that implicates PKCĪ²II isoform and translocation in different subcellular compartments.In this study, we investigated the role of PKC&#948...

ea0022oc5.1 | Reproduction &amp; Thyroid | ECE2010

Therapeutic concentrations of mitotane inhibit thyrotroph cell viability and TSH secretion in a mouse cell line model

Gentilin Erica , Daffara Fulvia , Reimondo Giuseppe , Carandina Gianni , Ambrosio Maria Rosaria , Terzolo Massimo , degli Uberti Ettore C , Zatelli Maria Chiara

Mitotane therapy is associated with many side effects, including thyroid function perturbations mimicking central hypothyroidism, possibly due to laboratory test interference or pituitary direct effects of mitotane. Therefore, we aimed at investigating whether increasing concentrations of mitotane in the therapeutic range might interfere with thyroid hormone assays and evaluate the effects of mitotane on a mouse TSH- producing pituitary cell line. TSH, FT4 and FT<su...

ea0022p384 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Real-time PCR is useful to detect menin gene deletions

Zatelli Maria Chiara , Filieri Carlo , Tagliati Federico , Buratto Mattia , Calabro Veronica , Ambrosio Maria Rosaria , degli Uberti Ettore C

Familial pituitary adenoma is frequently associated with germinal mutations of several genes, including menin gene. MEN1 syndrome is an autosomic dominant disease, characterized by parathyroid adenomas, endocrine gastroenteropancreatic tumors, and pituitary adenomas, due to inactivating mutations of the MenI gene (11q13). MEN1 mutations are scattered within and around the menin open reading frame and are mainly represented by single nucleotide polymorphisms (SNPs), and ...

ea0022p385 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Role of piuitary tumour transforming gene 1 in medullary thyroid carcinoma

Zatelli Maria Chiara , Tagliati Federico , Buratto Mattia , Pelizzo Mariarosa , Pansini Giancarlo , Ambrosio Maria Rosaria , degli Uberti Ettore C

Pituitary tumour transforming gene 1 (PTTG1) is over-expressed in a variety of endocrine-related tumors. We investigated PTTG1 expression in human C-cell hyperplasia (CCH), human medullary thyroid carcinoma (MTC) and in the human MTC cell line, TT. PTTG1 expression was significantly higher (P<0.01) in CCH (threefold), in papillary thyroid cancer and in MTC (fivefold) than in normal thyroid, and in MTC lymph-node metastases as compared to primary lesions (approximate...