Searchable abstracts of presentations at key conferences on calcified tissues

ba0004p133 | (1) | ICCBH2015

Fibrodysplasia ossificans progressiva: disabling but now treatable

Keen Richard , Jacobs Benjamin , Mughal M Zulf

Background: Fibrodysplasia ossificans progressiva (FOP) is a rare condition characterised by congenital malformation of the great toes and progressive heterotopic endochondral ossification. The disease progresses with episodic flare-ups, resulting in disabling cumulative immobility. The discovery of the ACVR1 gene as the cause of FOP has allowed identification of therapeutic targets. Palovarotene, a retinoic acid receptor gamma agonist, is in phase 2 clinical trials.<...

ba0005p137 | Cell biology: osteoblasts and bone formation | ECTS2016

Delta-like 1/fetal antigen 1 (DLK1/FA1) inhibits BMP2-induced osteoblast differentiation by modulating Nfκb signaling pathway: a novel mechanism for regulation of bone formation

Qiu Weimin , Abdallah Basem M. , Kassem Moustapha

Delta-like 1/fetal antigen-1 (DLK1/FA1) is a negative regulator of bone mass in vivo as it inhibits osteoblast (OB) and stimulates osteoclast differentiation. However, the molecular mechanisms underlying these effects are not known. Thus, we studied the effect of DLK1/FA1 on different signaling pathways known to regulate OB differentiation. We identified DLK1/FA1 as an inhibitor of BMP2-induced OB differentiation. Stable overexpression of DLK1/FA1 in C2C12 cells or th...

ba0007p136 | (1) | ICCBH2019

Intravenous bisphosphonate treatment in severe infantile hypercalcemia associated with Williams Syndrome

Guarneri Alissa M , Patel Nisha , Bowden Sasigarn A

Background: Infantile hypercalcemia occurs in ~15% of patients with Williams Syndrome (WS) and is typically mild. Severe hypercalcemia has been reported in infants/toddlers with WS, requiring treatment with intravenous (IV) saline hydration, furosemide, calcitonin, calcium and vitamin D restriction, and in some cases IV bisphosphonates.Presenting problem: Three cases of infants with WS age 9–13 months presented with severe hypercalcemia, failure to ...

ba0003pp407 | Paediatric bone disease | ECTS2014

Glucocorticoid-treated boys with Duchenne muscular dystrophy DMD and osteoporosis have higher bone matrix mineralization before and after i.v. bisphosphonate therapy

Roschger Paul , Misof Barbara M. , Klaushofer Klaus , Rauch Frank , Ward Leanne M

Duchenne muscular dystrophy (DMD) causes progressive muscle weakness and loss of ambulation. While glucocorticoid (GC) therapy improves motor function, many boys sustain fractures due to osteoporosis. Recently, i.v. bisphosphonate (i.v.BP) therapy has shown promise in the treatment of DMD-related osteoporosis. At the same time, bone histomorphometry revealed lowered bone volume and significant reductions in bone formation pre-i.v.BP treatment, and a further drop after 2 years&...

ba0005p35 | Bone biomechanics and quality | ECTS2016

Bone material properties as measured by Reference Point Indentation are low in subjects with acromegaly

Malgo Frank , Hamdy Neveen A T , Pereira Alberto M , Biermasz Nienke R , Appelman-Dijkstra Natasha M

Introduction: Acromegaly is a rare disease caused by excess growth hormone (GH) production by an adenoma of the anterior pituitary gland. The skeletal complications of GH and IGF-1 excess include increased bone turnover, increased cortical bone mass and deteriorated microarchitecture of trabecular bone, associated with a high risk of vertebral fractures in the presence of a relatively normal Bone Mineral Density (BMD). There are no data on bone material properties in patients ...

ba0005p221a | Chondrocytes and cartilage | ECTS2016

miR-214: a novel regulator of chondrogenesis?

Roberto Vania P , Conceicao Natercia , Nunes Maria J , Rodrigues Elsa , Cancela M Leonor , Tiago Daniel M

Skeletogenesis is an intricate process controlled by numerous transcriptional factors, hormones and signalling pathways. Recently, microRNAs emerged as important players in skeletogenesis but, only few were identified and most of their targets remain unknown. Previous works showed that miR-199a-2/214 cluster is essential for skeletal development and that miR-214 inhibits bone formation in mammals. However, data regarding its skeletal role in other vertebrates is scarce and its...

ba0006p068 | (1) | ICCBH2017

Craniosynostosis can occur in children with nutritional rickets

Forestier-Zhang L , Arundel P , Cross R Gilbey , Mughal M Z , Offiah A C , Cheung M S

Background: Severe vitamin D deficiency (VDD), is a common disorder, which has complications including rickets, hypocalcaemia, hypotonia, delayed development and cardiomyopathy. Although nutritional rickets associated craniosynostosis has been reported, there is little awareness of this or knowledge about its clinical course or severity. We present five cases of late onset craniosynostosis in association with nutritional rickets.Clinical presentation: Th...

ba0006p116 | (1) | ICCBH2017

Classical SATB2-associated syndrome with severe osteoporosis, recurrent bony fractures and tibial bowing

Jacobs Benjamin , Rose Anna M. , Zulf Mughal M. , Keen Richard , Wakeling Emma L.

Background: Mutations in SATB2 have been described in association with a unique phenotype known as SATB2-associated syndrome (SAS). This condition is characterised by severe intellectual disability affecting speech development, behaviour, facial features and dental anomalies. Skeletal features and osteoporosis have been reported in older individuals (aged 15–36), in association with point mutations. We report a 24-year-old man with a SATB2 misse...

ba0001pp203 | Cell biology: osteoblasts and bone formation | ECTS2013

Connectivity Map-based discovery of novel compounds that induce osteoblast differentiation

Brum A M , van de Peppel J , van Kerkwijk A , Janssen M , Schreuders-Koedam M , Strini T , Eijken M , van Leeuwen J P T M , van der Eerden B C J

Osteoporosis is a common skeletal disorder characterized by low bone mass leading to increased bone fragility and fracture susceptibility. Little is currently known about what specific factors stimulate osteoblast differentiation from human mesenchymal stem cells (hMSCs). Therefore, the aim for this project is to determine novel factors and mechanisms involved in human bone production which can be targeted to treat osteoporosis, using gene expression profiling and bioinformati...

ba0002oc11 | Biology | ICCBH2013

Connectivity map-based discovery of novel compounds that induce osteoblast differentiation

Brum A M , de Peppel J van , van Kerkwijk A , Janssen M , Schreuders-Koedam M , Strini T , Eijken M , van Leeuwen J P T M , van der Eerden B C J

Osteoporosis is a common skeletal disorder characterized by low bone mass leading to increased bone fragility and fracture susceptibility. Little is currently known about what specific factors stimulate osteoblast differentiation from human mesenchymal stem cells (hMSCs). Therefore, the aim for this project is to determine novel factors and mechanisms involved in human bone production which can be targeted to treat osteoporosis, using gene expression profiling and bioinformati...