Searchable abstracts of presentations at key conferences in endocrinology

ea0077p201 | Metabolism, Obesity and Diabetes | SFEBES2021

Phospho-regulation of Acetyl-CoA-Carboxylase (ACC1) in Pancreatic Beta Cells

Bany Bakar Rula , Liberatori Sabrina , Veprik Anna , Tebeka Nchimunya Nelisa , Mohammed Shabaz , Cantley James

Background: Acetyl-CoA-Carboxylase (ACC1), the rate-limiting enzyme of de novo lipogenesis, plays a critical role in beta cell growth and insulin secretion. In spite of plethora evidence for the role of ACC1 in insulin secretion and beta cells function both in vivo and in vitro, very little is known about how ACC1 activity is regulated in pancreatic beta cells. The aim of the current study was to screen for novel phospho-sites that may regulate ACC1 activity ...

ea0081mte12 | Diagnostic approach and clinical management of hypophosphatemia: Is it really an endocrine disorder?. | ECE2022

Diagnostic approach and clinical management of hypophosphatemia: Is it really an endocrine disorder?

Corbetta Sabrina

Phosphorus is involved in energy storage, metabolism, nucleic acids, cell membrane function, cell signaling; it is a fundamental constituent of skeleton and teeth. Pi homeostasis is regulated mainly by three hormones, namely parathyroid hormone (PTH), vitamin D and Fibroblast Growth Factor 23 (FGF23). Additionally, sex hormones are known to decrease circulating Pi levels, by reducing renal tubular reabsorption through direct and indirect effects on renal phosphate channels and...

ea0029p1326 | Paediatric endocrinology | ICEECE2012

Building a Brazilian national network for pediatric endocrinology: the RUTE SIG experience

Arrais R. , Alves C. , Castro L. , Kopacek C. , Calliari L. , Damiani D. , Garcia L. , Hoineff C. , Lobe M. , Solberg P. , Liberatori R. , Graca G. , Guerra G.

Providing good information, exchanging expertise and stimulating clinical discussions are usually main goals when structuring academic services. Nowadays, especially in large countries with social/economic differences between regions, such as Brazil, telemedicine and telehealth are resources with main strategic importance in a country’s Public Health System. Since its creation, RUTE network (Rede Universitária de Telemedicina, supported by brazilian Ministry of Scien...

ea0064037 | The phenotypic diversity of the 22q11.2 deletion syndrome and hypoparathyrodism | BES2019

The phenotypic diversity of the 22q11.2 deletion syndrome and hypoparathyrodism

Sabrina Poradosu , Brigitte Velkeniers , Bert Bravenboer

The 22q11.2 deletion syndrome is a clinical syndrome caused by a hemizygous deletion in the chromosome 22q11.2. Clinical findings include cardiac defects, characteristic facial features, thymic hypoplasia, cleft palate, hypoparathyroidism, learning difficulties and psychiatric disorders. The importance of chromosome 22 relies on small number of genes located in the long (Q) arm participating in the development of the body plan, including the pharyngeal arches during the embryo...

ea0014s12.3 | Hypothalamic network controlling food intake | ECE2007

The picture of the hypothalamus is becoming clearer: new concept of cross-talk

Horvath Tamas , Gao Qian , Diano Sabrina

Significant advancements have been made in the last century regarding the neuronal control of feeding behavior and energy expenditure. The effects and mechanism of action of various peripheral metabolic signals on the brain have become clearer. Molecular and genetic tools for visualizing and manipulating individual components of brain homeostatic systems in combination with neuroanatomical, electrophysiological, behavioral and pharmacological techniques have begun to elucidate...

ea0081rc5.5 | Rapid Communications 5: Diabetes, Obesity, Metabolism and Nutrition 2 | ECE2022

Very Low Calorie Ketogenic Diet combined with interval training for preserving muscle mass during weight loss in sarcopenic obesity: a pilot study

Camajani Elisabetta , Feraco Alessandra , Basciani Sabrina , Caprio Massimiliano

The prevalence of sarcopenic obesity (SO) is increasing worldwide, posing important challenges to public health and national health care system, especially during the COVID pandemic. In subjects with SO, it is essential to reduce body weight preserving lean mass, in order to avoid a worsening of muscle function. Lifestyle modification with adequate nutrition and proper physical activity is essential to counteract SO progression. In accordance with the Position Statement of the...

ea0081p306 | Calcium and Bone | ECE2022

Effects on bone mineral density and bone markers of the sequential treatment with teriparatide followed by zoledronic acid in patients with severe fractured osteoporosis: retrospective real-life data

Dito Giorgia , Degradi Chiara , Guabello Gregorio , Longhi Matteo , Corbetta Sabrina

Osteoporosis is a chronic condition requiring long-term treatment; sequential treatment regimens with different agents represents an option aimed to increase bone mineral density (BMD) and then to maintain it. The loss of BMD occurring after withdrawal of teriparatide (TPT) can be prevented by bisphosphonates (BPs). Among BPs, data about the efficacy of zoledronic acid (ZOL) after TPT treatment are scanty. Here, we contribute to this topic providing data derived from the real-...

ea0081ep162 | Calcium and Bone | ECE2022

Hypophosphatemia in patients with primary hyperparathyroidism

Amodeo Alessandro , Dito Giorgia , Guabello Gregorio , Longhi Matteo , Corbetta Sabrina

Osteoporosis management increased determination of serum calcium (Ca) levels, and detection of hypercalcemia in the set of out patients. Serum phosphate (P) levels are less frequently measured in osteometabolic patients. Primary hyperparathyroidism (PHPT) is the most common cause of hypophosphatemia. However, hypophosphatemia receives poor attention during the PHPT diagnostic work up, and also data in literature are scanty. We retrospectively reviewed the clinical records from...

ea0090p25 | Calcium and Bone | ECE2023

Expression of genes involved in parathyroid tumorigenesis identified different gene signatures in parathyroid adenomas

Verdelli Chiara , Maggiore Riccardo , Stefania Tavanti Giulia , Corbetta Sabrina

The expression of key molecules involved in fundamental cell processes and epigenetic gene expression modulation is altered in human parathyroid tumours, due to gene mutations, loss of heterozygosity, aberrant gene promoter methylation, DNA copy number variations. We performed a gene profiling of 26 parathyroid tumorigenesis-related genes in a series of 32 sporadic parathyroid adenomas (PAds) surgically removed from patients with primary hyperparathyroidism, with the aim to de...

ea0063p474 | Calcium and Bone 2 | ECE2019

Hypophosphatemia in osteoporotic patients referred to a single third level centre: prevalence, clinical features and diagnostic challenges

Indirli Rita , Guabello Gregorio , Longhi Matteo , Passeri Elena , Corbetta Sabrina

Chronic hypophosphatemia (HP) can be observed among patients (pts) evaluated and treated for osteoporosis, but its prevalence and management are poorly defined. In this study we analyze prevalence, clinical features and diagnostic workup for chronic HP among pts attending a third-level osteoporosis office. Chronic HP was defined as serum phosphate levels persistently < 2.7 mg/dl over a period ≥ 6 months. Tubular reabsorption of phosphate (TRP) was measured and, in pr...