Searchable abstracts of presentations at key conferences in endocrinology

ea0049s22.1 | Rare bone diseases (Endorsed by the European Journal of Endocrinology) | ECE2017

Approach for clinicians

Brandi Maria-Luisa

Rare skeletal metabolic diseases comprise a group of diseases commonly associated with severe clinical consequences. In recent years, the description of the clinical phenotypes and radiographic features of several genetic bone disorders was paralleled by the discovery of key molecular pathways involved in the regulation of bone and mineral metabolism. Including this information in the description and classification of rare skeletal diseases may improve the recognition and mana...

ea0014p283 | (1) | ECE2007

In vitro effects of 17 βE2 and raloxifene on desmoid tumour derived cells

Picariello Lucia , Sala Silvia Carbonell , Martineti Valentina , Gozzini Alessia , Brandi Maria Luisa , Tonelli Francesco

Desmoid tumours (DT) are a benign manifestation of familial adenomatous polyposis. The prevalent development in young fertile women, the regression during menopause or with tamoxifen treatment, underlie the potential role of estrogens and Estrogen Receptors (ERs) in the pathogenesis of these tumors. To investigate this hypothesis, the expression of ERs α and β in desmoid tumors derived cell cultures, the effects of 17βE2 and of raloxifene on DT cell p...

ea0056p647 | Endocrine tumours and neoplasia | ECE2018

New germline mutation of the CDC73 gene in a Romanian family with hyperparathyroidism-jaw tumour syndrome

Grigorie Daniel , Ciuffi Simone , Franceschelli Francesco , Sucaliuc Alina , Brandi Maria Luisa

Introduction: Hyperparathyroidism-jaw tumour (HPT-JT) syndrome is a rare autosomal dominant cause of familial hyperparathyroidism associated with ossifying fibromas (OF) of the maxillofacial bones and increased risk of parathyroid carcinoma, caused by inactivating germline mutation of the cell division cycle 73 (CDC73) gene.Case report: We report the first Romanian family with HPT-JT and genetic screening of CDC73 gene. Three of the six...

ea0035oc6.5 | Bone, calcium & vitamin D | ECE2014

The effect of recombinant human parathyroid hormone, rhPTH(1–84), on vitamin D metabolism and phosphate homeostasis: Results from phase III 24-Week REPLACE and phase I clinical studies

Brandi Maria Luisa , Beckers Albert , Vokes Tamara , Mannstadt Michael , Bilezikian John , Clarke Bart , Lagast Hjalmar , Shoback Dolores

PTH promotes conversion of 25-hydroxyvitamin D (25[OH]D) to 1,25-dihydroxyvitamin D (1,25[OH]2D), thus stimulating intestinal calcium and phosphate absorption. Because of low PTH levels in hypoparathyroidism, patients are prescribed calcitriol. Patients are predisposed to hyperphosphatemia owing to loss of PTH-stimulated phosphate excretion by the kidneys. Effects of rhPTH(1–84) on vitamin D metabolism and serum phosphate were studied.In ...

ea0081ep154 | Calcium and Bone | ECE2022

Clinical outcomes of COVID-19 infection in rare bone and mineral disorders

Zurita Ana Luisa Priego , Bryce Jillian , Brandi Maria-Luisa , Glasberg Simona , Pereira Alberto M , Sangiorgi Luca , Schalin-Jantti Camilla , van den Akker Erica , Ahmed Faisal , Appelman-Dijkstra Natasha

Background The European Registries for Rare Endocrine Conditions and the European Registries for Rare Bone and Mineral Conditions were created in collaboration with the European Reference Networks for Rare Endocrine and Bone Disorders (Endo-ERN and ERN BOND). Following the onset of the COVID-19 pandemic in 2020, the registries, together with the ESE RD Committee, have collected the occurrence of confirmed and suspected cases of COVID-19 in patients with rare endocrine and bone...

ea0041ep129b | Bone & Osteoporosis | ECE2016

Similarities in postsurgical vs nonsurgical patients with hypoparathyroidism: post hoc analysis from recombinant human parathyroid hormone (rhPTH[1-84], parathyroid hormone rDNA) REPLACE study

Brandi Maria Luisa , Bilezikian John P , Clarke Bart L , Fraser William , Krasner Alan , Lagast Hjalmar , Li Benjamin , Mannstadt Michael , Rejnmark Lars , Shoback Dolores M , Vokes Tamara J

Hypoparathyroidism, a rare disorder characterized by absent or low levels of parathyroid hormone (PTH), often results from thyroid surgery. However, nonsurgical etiologies are present in >10% of patients. Data about this group of patients are limited.In this post hoc REPLACE (NCT00732615, EudraCT2008-005063-34) analysis, baseline characteristics and response to 50–100 μg/day rhPTH(1-84) in patients with postsurgical or nonsurgical ...

ea0014oc3.6 | Endocrine tumors & neoplasia | ECE2007

ERß-specific transcriptional profile in colon cancer

Martineti Valentina , Mascherini Massimiliano , Mavilia Carmelo , Sala Silvia Carbonell , Tognarini Isabella , Azzari Chiara , Stefanini Federico Mattia , Tonelli Francesco , Brandi Maria Luisa

Epidemiological data clearly evidence a protective role of estrogens against the development of colon cancer and ERβ has been identified as the predominant ER subtype in human colon. More recently it has been identified as a favourable prognostic marker in this disease, possibly explaining the protective effect of estrogens against colon cancer development. To understand the specific role and mechanism of action of ERβ in colon tumorigenesis we developed an in vit...

ea0014p284 | (1) | ECE2007

ESR2 genotypes are associated with a reduced relative risk for sporadic colorectal cancer

Martineti Valentina , Picariello Lucia , Del Monte Francesca , Valanzano Rosa , Strigoli Debora , Sala Silvia Carbonell , Canonico Giuseppe , Tonelli Francesco , Brandi Maria Luisa

According to incidence data from Italian cancer registers, colorectal cancer is the third most common cancer in both men and women even considering skin non-melanoma cancers, lung and breast cancers. Moreover it represents the third absolute leading cause of cancer death in women and the fourth in men. Although data on Italian population regarding the role of estrogens in colorectal cancer have not yet been collected, several strands of evidence from international epidemiologi...

ea0056gp178 | Parathyroid | ECE2018

The global, prospective, observational PARADIGHM registry for patients with chronic hypoparathyroidism was expanded to capture recombinant human parathyroid hormone, rhPTH(1-84), use under routine clinical care

Clarke Bart L , Rejnmark Lars , Brandi Maria Luisa , Germak John , Hahner Stefanie , Houillier Pascal , Kampe Olle , Kasperk Christian , Khan Aliya , Levine Michael A , Mannstadt Michael , Piccolo Rebecca , Shoback Dolores M , Vokes Tamara J , Gittoes Neil

PARADIGHM™, a global, prospective, observational registry of patients with chronic hypoparathyroidism (HPT), began enrolment in 2013 to collect data on the natural history of chronic HPT (ClinicalTrials.gov NCT01922440). Since initiation, recombinant human PTH, rhPTH(1-84), has been approved in the United States and Europe as an adjunctive treatment for adult patients with HPT. The protocol for the registry (now a European Medicines Agency–designated postm...

ea0049gp33 | Bone & Calcium Homeostasis 1 | ECE2017

“Hyperparanet”: a multicenter Italian study on Primary Hyperparathyroidism

Saponaro Federica , Cetani Filomena , Camozzi Valentina , D'Angelo Antonella , Minisola Salvatore , Scillitani Alfredo , Cipri Claudia , Palmieri Serena , Chiodini Iacopo , Romanelli Francesco , Madeo Bruno , Castellano Elena , Gianotti Laura , Faggiano Antongiulio , Cianferotti Luisella , Brandi Maria Luisa , Corbetta Sabrina , De Feo Maria Laura , Palermo Andrea , Marcocci Claudio

The aim of the present study was to evaluate the phenotype of PHPT, the adherence to International Guidelines and the rate of surgical cure of PHPT in Italy. From January 2014–January 2016, we conducted a prospective, multicenter (n=29 endocrine tertiary referral centers) study on patients with PHPT, recording clinical and biochemical data, parathyroid imaging and therapy choice at baseline and at last follow-up. The study group included 604 patients with PHPT, w...