Searchable abstracts of presentations at key conferences on calcified tissues

ba0002p80 | (1) | ICCBH2013

Osteogenesis imperfecta and short stature: effect of sclerostin antibody treatment in oim/oim mice

Cardinal Mickael , Nyssen-Behets Catherine , Ominsky Mike , Devogelaer Jean-Pierre , Manicourt Daniel H

Introduction: Osteogenesis imperfecta (OI) is characterized by low bone mass, skeletal fragility and, frequently, short stature. We previously showed in oim/oim mice that sclerostin inhibition increased bone mass, mineral content and strength. Here, we compared the body length and the sizes of long bones, head and vertebrae between oim/oim and wildtype mice and analyzed the effect of sclerostin antibody (Scl-Ab) on these parameters.Materials and methods:...

ba0002p183 | (1) | ICCBH2013

Juvenile idiopathic osteoporosis: a case study

McDonnell Ciara , Gibbons Catherine , Murphy Nuala , Kilbane Mark , van der Kamp Susan , McKenna Malachi

Background: This case illustrates the longitudinal improvements quantified by serial bone mineral density scans in an adolescent female with juvenile idiopathic osteoporosis treated with pamidronate.Presenting problem: The girl in question presented at 11 years and 10 months with a 5-month history of increasing back pain. A MRI scan prior to referral had indicated vertebral collapse and osteopenia. She had no medical, social or developmental history of n...

ba0003pp252 | Osteoporosis: evaluation and imaging | ECTS2014

The development of a mathematical model to predict the time to osteoporosis using DEXA scanning

Scully Paul , Peters Catherine , Carew Sheila , Sheehy Tina , Costello Aine , Connor Margaret O , Lyons Declan

Background: Dual-energy X-ray absorptiometry (DEXA) is the gold standard used for measuring bone mineral density and such readings are currently used to predict osteoporosis and osteoporotic fractures. However, no similar prediction model has been developed to identify the age that a patient will become osteoporotic based on DEXA scanning.Objective: The aim of this study was to develop a mathematical model to determine the TTO based on two or more DEXA s...

ba0005oc6.1 | Development and differentiation (or Aging) | ECTS2016

Analyses of structural and functional impact of three FGFR3 mutations localized at position K650 leading to both mild and lethal dwarfism

Ebri Davide Komla , Dambroise Emilie , Benoist-Lasselin Catherine , Kaci Nabil , Barbault Florent , Legeai-Mallet Laurence

The fibroblast growth factor receptor 3 (FGFR3) activation leads to dwarfism with a spectrum of severity, hypochondroplasia (HCH), severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN), and thanatophoric dysplasia (TD). Interestingly, FGFR3 mutations localized at the same position in the tyrosine kinase domain are responsible for HCH (p. Lys650Asn), SADDAN (p. Lys650Met) and TD (p. Lys650Glu).The mechanisms of FGFR3 activation ...

ba0006p040 | (1) | ICCBH2017

Atypical femoral fractures in 2 children treated with bisphosphonates

Jacobs Benjamin , Brain Caroline , DeVile Catherine , Allgrove Jeremy , Peeva Daniela , Hashemi-Nejad Aresh , Mughal M Zulf

Background: Atypical Femur Fracture (AFF) has become widely reported as a complication of bisphosphonate therapy in adults since the first case report in 2005. A trend towards a similar pattern of fractures has been reported in children in Sheffield in 2012. A 13 year old boy was reported in 2014 with an ‘AFF’ of the tibia but that fracture did not meet the standard diagnostic criteria of AFF. Last year a 16-year-old girl treated with pamidronate for idiopathic juven...

ba0007p51 | (1) | ICCBH2019

Higher dose of burosumab is needed for treatment of children with severe forms of X-linked hypophosphatemia

Zhukouskaya Volha V , Audrain Christelle , Lambert Anne-Sophie , Colao Annamaria , Kamenicky Peter , Adamsbaum Catherine , Nevoux Jerome , Chaussain Catherine , Wicart Philippe , Briot Karine , Di Rocco Federico , Trabado Severine , Prie Dominique , Rothenbuhler Anya , Linglart Agnes

Background and aim: Burosumab is a monoclonal antibody against anti-FGF23, which has been recently approved for treatment of X-linked hypophosphatemia (XLH). Beyond clinical trials, little is known about its efficacy/safety in clinical practice which is the aim of study.Patients/Methods: 39 children with XLH were switched from conventional therapy to burosumab (starting dose 0.4 mg/kg), because of following indications: non-responder to conventional ther...

ba0001pp183 | Cell biology: osteoblasts and bone formation | ECTS2013

Development of mice models to study implant osseointegration and failure in alveolar bone

Mouraret Sylvain , Bardet Claire , Hunter Dan J , Popelut Antoine , Brunski John B , Chaussain Catherine , Bouchard Philippe , Helms Jill A

Many of our assumptions concerning oral implant osseointegration are extrapolated from experimental models studying skeletal tissue repair in long bones rather than in oral bones. This discrepancy between clinical practice and experimental research hampers our understanding on how alveolar bone forms or resorbs around implants and how osseointegration of oral implants can be improved. To overcome this disconnect, we have developed a mouse model which mimics oral implant placem...

ba0003pp95 | Cancer and bone: basic, translational and clinical | ECTS2014

Interleukin 34 promotes angiogenesis and increases blood cells adherence to endothelial cells

Segaliny Aude , Mohamadi Amel , Dizier Blandine , Lokajczyk Anna , Brion Regis , Charrier Celine , Boisson-Vidal Catherine , Heymann Dominique

Tumour growth and metastatic dissemination are significantly reduced in mice bearing an inactivation of the macrophage-colony stimulating factor (M-CSF) gene, due to angiogenesis impairment. In fact, M-CSF directly induces angiogenesis by increasing vascular endothelial growth factor (VEGF) production. Interleukin 34 (IL34), the M-CSF’s ‘twin’ cytokine, was characterized as a new cytokine promoting the growth, survival and differentiation of the myeloid lineage....

ba0006p087 | (1) | ICCBH2017

Cranial synostosis and Chiari 1 malformation in X-linked hypophosphatemic rickets

Rothenbuhler Anya , Bacchetta Justine , Debza Yahya , Lambert Anne-Sophie , Merzoug Valerie , Linglart Agnes , Adamsbaum Catherine , Di Rocco Federico

Background: X-linked hypophosphatemic rickets (XLHR) represents the most common form of hypophosphatemia.Aim: The aim of this prospective study was to describe and analyze the incidence of cranial and cervico-occipital junction (COJ) anomalies in a series of children with XLHR.Patients and methods: Seventeen children (13 girls, 4 boys, mean age 7.3 years) followed for XLHR at the French national reference center for rare diseases o...

ba0007p117 | (1) | ICCBH2019

Use of Lego® to explain genetic variations in type 1 collagen – a pilot study

Allgrove Jeremy , Heathfield Mark , Edwards Karen , Clark Chris , Hupin Emilie , Riddington Megan , Bultitude Alex , Crowe Belinda , DeVile Catherine

Objectives: To examine the usefulness of Lego® as a visual reinforcer to explain genetic mutations to parents and carers of children and young people who have osteogenesis imperfecta (OI).Methods: Before entering a dedicated OI clinic, patients and carers completed a quantitative questionnaire devised by one of the team (MR), asking how much they knew about the genetic mutations causing OI within their families and whether they wished for a more det...