Searchable abstracts of presentations at key conferences on calcified tissues

ba0005p244 | Genetics and Epigenetics | ECTS2016

NBAS is the gene mutated in two patients affected by Acrofrontofacionasal Dysostosis type 1

Palagano Eleonora , Zuccarini Giulia , Mantero Stefano , Conte Daniele , Angius Andrea , Uva Paolo , Prontera Paolo , Vezzoni Paolo , Villa Anna , Merlo Giorgio , Sobacchi Cristina

Acrofrontofacionasal Dysostosis type 1 (AFFND1) is a rare human syndrome (estimated prevalence lower than 1:1,000,000), characterized by bone abnormalities in addition to other multiple congenital anomalies and intellectual disability. Only four AFFND1 families, three of Brazilian and one of Indian origin, have been described so far and an autosomal recessive pattern of inheritance has been suggested. The patients are severely affected: the main clinical features are intellect...

ba0006p190 | (1) | ICCBH2017

Development of an in vitro model of cancer stem cells from a rare human telangiectatic osteosarcoma

Palmini Gaia , Zonefrati Roberto , Romagnoli Cecilia , Aldinucci Alessandra , Galli Gianna , Mavilia Carmelo , Leoncini Gigliola , Simoni Antonella , Franchi Alessandro , Campanacci Domenico Andrea , Capanna Rodolfo , Brandi Maria Luisa

Objective: Even though recent studies have proved the presence of cancer stem cells (CSCs) in osteosarcoma (OSA), with this study, for the first time, the existence of CSCs in a rare high grade type of OSA, the telangiectatic osteogenic sarcoma (TOS), is showed.Methods: TOS sample was collected at the ‘Ortopedia Oncologica e Ricostruttiva Unit’, AOU Careggi, Florence, with informed consent approved by the local Ethical Committee. First of all, ...

ba0007oc7 | (1) | ICCBH2019

Comparison of zoledronate and pamidronate in children with skeletal disorders: Short term safety experience from a single institution

Tosi Laura , Estrada Andrea , Floor Marianne , Kim Mirini , Weigley Lindsay , Dollar Christina , Gillies Austin , Roberts Mary Scott , Gafni Rachel , Boyce Alison

Objectives: Bisphosphonates are frequently used in children with skeletal disorders, however optimal dosing and regimens are unknown. Early treatment focused on pamidronate (PAM), a second-generation formulation, however use of zoledronate (ZOL), a more potent third-generation bisphosphonate, has recently increased due to shorter and less frequent infusions. The objective of this study is to compare short-term safety of ZOL and PAM in a pediatric population.<p class="abste...

ba0007p79 | (1) | ICCBH2019

Novel imaging approaches to the quantification of musculoskeletal alterations in X-linked hypophosphatemic rickets (XLH)

Raimann Adalbert , Mehany Sarah N , Feil Patricia , Weber Michael , Boni-Mikats Andrea , Klepochova Radka , Krssak Martin , Pietschmann Peter , Haeusler Gabriele , Schneider Johannes , Raum Kay , Patsch Janina

Objectives: X-linked hypophosphatemia (XLH) is a rare genetic disorder of phosphate metabolism caused by mutations in the PHEX gene. This pilot study aims to apply novel imaging techniques to asses the musculoskeletal phenotype of XLH patients by bidirectional axial transmission (BDAT) ultrasound, magnetic resonance spectroscopy (MRS) and high resolution peripheral quantitative computed tomography (HR-pQCT).Methods: BDAT bone ultrasound of the radius and...

ba0003pp112 | Cell biology: osteoblasts and bone formation | ECTS2014

Levels of circulating vesicular microRNA-31 increase with age as well as in the case of osteoporosis and inhibit osteogenic differentiation capacity of mesenchymal stem cells

Weilner Sylvia , Schraml Elisabeth , Wassermann Klemens , Wieser Matthias , Messner Paul , Schneider Karl , Micutkova Lucia , Fortschegger Klaus , Maier Andrea B. , Westendorp Rudi , Resch Heinrich , Wolbank Susanne , Redl Heinz , Jansen-Durr Pidder , Pietschmann Peter , Grillari-Voglauer Regina , Grillari Johannes

Aging is a complex process that results in the decline of physiologic functions due to accumulation of damage in cells and tissues. Mesenchymal stem cells (MSCs) counteract this decline but their regeneration capacity decreases with age. In particular osteogenic differentiation potential of MSCs has been shown to decrease with age thereby contributing to slowed down bone formation and osteoporosis. While much is known about cellular aging of MSCs, little is known about factors...

ba0004p58 | (1) | ICCBH2015

Music therapy as an avenue to promote healthy eating, exercise and bone health in children

Satoko Mori-Inoue , Ilich Jasminka Z

Objectives: The obesity in children and adolescents is in an exponential rise, particularly in the United States. New research indicates that high adiposity could be detrimental for both bone and muscle, via fat infiltration in those tissues, leading to the osteosarcopenic obesity1. Therefore, healthy weight in children is crucial for bones and muscles. Our objective was to develop a music therapy program to improve children’s dietary and exercise habi...

ba0006p013 | (1) | ICCBH2017

Longitudinal evaluation of bone mass, geometry and metabolism in adolescent male athletes. The PRO-BONE study

Swolin-Eide Diana , Hansson Sverker , Magnusson Per , Ronne Maria , Heideman Malene , Schou Anders , Laursen Jens Ole , Wedderkopp Niels , Husby Steffen , Molgaard Christian , Ubago-Guisado Esther , Vlachopoulos Dimitris , de Moraes Augusto Cesar , Torres-Costoso Ana , Wilkinson Kelly , Metcalf Brad , Sanchez-Sanchez Javier , Gallardo Leonor , Gracia-Marco Luis Tseretopoulou Xanthippi , Amin Nadia , Mushtaq Talat , Chaplais Elodie , Naughton Geraldine , Greene David , Duclos Martine , Masurier Julie , Dutheil Frederic , Thivel David , Courteix Daniel , Ubago-Guisado Esther , Vlachopoulos Dimitris , de Moraes Augusto Cesar , Torres-Costoso Ana , Wilkinson Kelly , Metcalf Brad , Sanchez-Sanchez Javier , Gallardo Leonor , Gracia-Marco Luis Cheuk Ka-Yee , Wang Xiaofang , Yu Fiona W P , Tam Elisa M S , Ng Bobby K W , Ghasem-Zadeh Ali , Zebaze Roger , Seeman Ego , Cheng Jack C Y , Lam Tsz-Ping , Kutilek Stepan , Formanova Daniela , Senkerik Marian , Skalova Sylva , Markova Daniela , Langer Jan , Kutilek Stepan , Vracovska Martina , Pikner Richard , Fejfarkova Zlatka , Gracia-Marco Luis Vlachopoulos Dimitris , Ubago-Guisado Esther , Barker Alan R , Fatouros Ioannis G , Avlotini Alexandra , Knapp Karen K , Moreno Luis A , Williams Craig A , Vlachopoulos Dimitris , Barker Alan R , Williams Craig A , Ubago-Guisado Esther , Ortega Francisco B , Ruiz Jonathan R , Moreno Luis A , Fatouros Ioannis G , Avloniti Alexandra , Gracia-Marco Luis

Objectives: Cross-sectional studies show that exercise may have positive effects on bone outcomes in youth. However, there is no evidence from longitudinal studies, which type of sports can induce improvements in bone acquisition in adolescent athletes. Therefore, this study aimed to investigate the longitudinal differences in bone acquisition and bone metabolism between adolescent males participating in osteogenic (football) and non-osteogenic (swimming, cycling) sports compa...

ba0007p17 | (1) | ICCBH2019

Sex and maturation effects on trabecular and cortical microarchitecture in children and young adults

Aye Tandy , Long Jin , Kent Kyla , Whalen Jessica , Strickland Ariana , Burghardt Andrew , Leonard Mary B

The impact of sex and maturation on trabecular (Tb) and cortical (Ct) microarchitecture in children and young adults has not been well established. The new second-generation high-resolution peripheral quantitative CT (HR-pQCT) scanner (XCT II, Scanco Medical) incorporates three important advances to provide greater spatial resolution, direct measures of Tb thickness and spacing and measures in the Ct midshaft. The aim of this study was to identify sex and maturation effects on...

ba0001oc1.1 | Osteoporosis epidemiology and long term treatment complications | ECTS2013

Disease-specific perception of fracture risk and incident fracture rates among postmenopausal women: findings from the Global Longitudinal Study of Osteoporosis in Women (GLOW)

Gregson Celia , Dennison Elaine , Compston Juliet , Adami Silvano , Adachi Jonathan , Anderson Frederick , Boonen Steven , Chapurlat Roland , Diez-Perez Adolfo , Greenspan Susan , Hooven Frederick , Lacroix Andrea , Nieves Jeri , Netelenbos J Coen , Pfeilschifter Johannes , Rossini Maurizio , Roux Christian , Saag Kenneth , Silverman Stuart , Siris Ethel , Watts Nelson , Wyman Allison , Cooper Cyrus

Patients with improved health understanding have greater autonomy over, and motivation towards, health-related lifestyles. We compared self-perceived fracture risk and 3-year incident fracture rates in postmenopausal women for a range of co-morbid diseases using data from the Global Longitudinal study of Osteoporosis in Women (GLOW).GLOW is an international cohort study involving 723 physician practices across 10 countries in Europe, North America, Austr...