Searchable abstracts of presentations at key conferences on calcified tissues

ba0005p103 | Cancer and bone: basic, translational and clinical | ECTS2016

Conventional and Pagetic Giant Cell Tumor of bone: distinct clinical features are defined by different genetic background and histological appearance

Divisato Giuseppina , di Carlo Federica Scotto , Esposito Teresa , Pazzaglia Laura , Benassi Maria Serena , Merlotti Daniela , Rendina Domenico , Gennari Luigi , Gianfrancesco Fernando

Conventional Giant Cell Tumor of Bone (GCT) is an aggressive bone tumor characterized by malignant mesenchymal stromal cells, responsible for its unusually high population of multinucleated osteoclast-like giant cells. GCT could arise in bones affected by Paget’s disease of bone (GCT/PDB) with a different clinical profile regarding the age-onset of the neoplasm (30 years vs 50 years) and the skeletal localization (appendicular skeleton vs cranio-facial bones), let hyphote...

ba0005p194 | Cell biology: osteoclasts and bone resorption | ECTS2016

Neuropetide Y Y1 receptor deletion impairs matrix demineralization and resorption

Sousa Daniela M , Conceicao Francisco , Leitao Luis , Neto Estrela , Alves Cecilia J , Alencastre Ines S , Herzog Herbert , Aguiar Paulo , Lamghari Meriem

Neuropeptide Y Y1 receptor (Y1R) signalling has been shown to play a key role in bone homeostasis, emerging as a novel therapeutic target in bone diseases. Y1R knockout mice (Y1−/−) display a high-bone mass phenotype that has been mainly attributed to increased osteoblast activity. Nevertheless, the Y1R regulatory role on osteoclastogenesis and matrix resorption remains largely unknown. To clarify th...

ba0005p452 | Other diseases of bone and mineral metabolism | ECTS2016

Micro-RNA expression profiling in Paget’s disease of bone

Bianciardi Simone , Merlotti Daniela , Sebastiani Guido , Valentini Marco , Gonnelli Stefano , Caffarelli Carla , Evangelista Isabella Anna , Cenci Simone , Nuti Ranuccio , Dotta Francesco , Gennari Luigi

Since their initial discovery, microRNAs (miRNAs) have emerged as critical post-transcriptional regulators of gene expression that are able to modulate bone remodeling. Nonetheless, despite the peculiar and aggressive phenotype of pagetic osteoclasts and the associated increase in osteoblast activity, whether deregulation of miRNAs is involved in Paget’s disease of bone (PDB) remains unknown. Here, we performed a serum miRNA expression profile (Taqman Human MicroRNA Array...

ba0006oc20 | (1) | ICCBH2017

Autoimmune hyperphosphatemic tumoral calcinosis

Ramnitz Mary Scott , Burbelo Peter , Egli-Spichtig Daniela , Perwad Farzana , Romero Christopher , Ichikawa Shoji , Farrow Emily , Econs Michael , Guthrie Lori , Gafni Rachel I. , Collins Michael T.

Background: Hyperphosphatemic familial tumoral calcinosis (HFTC)/hyperostosis-hyperphosphatemia syndrome (HHS) is an autosomal recessive disorder due to deficiency of or resistance to intact fibroblast growth factor 23 (FGF23). This leads to hyperphosphatemia, increased renal reabsorption of phosphorus (TRP), and elevated or inappropriately normal 1,25-dihydroxyvitamin D (1,25D). Affected individuals may develop ectopic calcifications and/or diaphyseal hyperostosis. Mutations ...

ba0006p095 | (1) | ICCBH2017

Legg Calve Perthes disease and growth hormone treatment

Belceanu Alina Daniela , Armasu Ioana , Tirnovan Mirela , Bursuc Anamaria , Cabac Mariana , Crumpei Iulia , Constantinescu Georgiana , Preda Cristina , Ungureanu Maria Christina , Vulpoi Carmen

Background: Current extension in the usage of growth hormone therapy (GHT) has increased the prevalence of bone complications. Legg Calvé Perthes disease (LCPD) is characterized by idiopathic avascular necrosis of the proximal femoral epiphysis. More frequently in boys between 4 and 8 years, LCPD is of unknown ethology. An increased incidence has been stated in case of GH deficiency. There is increasing data that children with LCPD may have a more widespread skeletal diso...

ba0007lb10 | (1) | ICCBH2019

Foramen magnum stenosis (FMS): neuroradiological aspects before and after cervical decompression in paediatric patients with achondroplasia (ACH)

Allegri Anna Elsa Maria , Di Iorgi Natascia , Severino Mariasavina , Patti Giuseppa , Siri Giulia , Piatelli Gianluca , Fava Daniela , Napoli Flavia , Michelis Beatrice , Maghnie Mohamad

The identification of markers indicative of pathological FMS plays a pivotal role in the prevention of ACH complications.Objective: Identify key cranio-cervical junction neuroradiological features for the surgical choice and for the decompression outcome.Methods: Out of 191 ACH patients, we selected 24 patients before 4 years of age, who performed a first brain MRI and/or CT. Patients were divided into 2 groups: surgically treated ...

ba0001oc3.5 | Osteoporosis pathophysiology and genetics | ECTS2013

Genome-wide association identifies a new susceptibility locus at 4q35 associated with clinical vertebral fractures in post-menopausal women: the GEFOS-GENOMOS consortium

Alonso N , Estrada K , Herrera L , Kabir D , Olmos J M , Sanudo C , Riancho J A , Oei L , Medina-Gomez M C , Stenkjaer L , Bjerre L , Langdahl B , Brown M A , Duncan E L , Sims M , Kaptoge S , Reeve J , Lewis J , Prince R , Reppe S , Olstad O K , Gautvik K M , Garcia-Giralt N , Nogues X , Mencej-Bedrac S , Marc J , del Pino J , Gonzalez-Sarmiento R , Wolstein O , Eisman J , Feenstra B , Melbye M , Albagha O M E , WTCCC , Davies G , Starr J , Deary I , Quintela I , Fernandez C , Carracedo A , Lucas G , Elosua R , Uitterlinden A G , Rivadeneira F , Ralston S H

Vertebral fractures (VF) defined by morphometric analysis of spine radiographs are the most common complication of osteoporosis. Those that come to medical attention, with symptoms such as back pain and kyphosis are termed clinical vertebral fractures (CVF) and account for significant morbidity and mortality. Although much progress was made in identifying loci for bone mineral density, the genetic determinants of CVF remain unclear. Here we present the initial results from a g...

ba0003pp366 | Other diseases of bone and mineral metabolism | ECTS2014

Gene expression in vascular calcification: are there differences between atherosclerotic changes and media sclerosis?

Schweighofer Natascha , Aigelsreiter Ariane , Graf-Rechberger Martina , Hacker Nicole , Iberer Florian , Kniepeiss Daniela , Wagner Doris , Stiegler Philipp , Gutschi Jurgen , Trummer Olivia , Sinner Frank , Pieber Thomas , Muller Helmut , Obermayer-Pietsch Barbara

Background: Pathophysiological calcification in the vasculature is a risk factor for cardiovascular disease (CVD). CVD are among the most common causes of death in patients with chronic kidney disease and crucial for kidney transplantation (RTX) outcomes.Aim: The aim of this study is to identify differences in the pattern and the onset of expression of regulators of calcification (RC) in atherosclerosis (AS) and media sclerosis (MS).<p class="abstext...