Bone Abstracts

Objectives: Clinicians practicing in long-term care (LTC) face unique challenges caring for frail elderly individuals including multiple co-morbidities, polypharmacy, and end of life care, and practice guidelines typically do not address this population. Guidance regarding the management of osteoporosis and fracture prevention in LTC, a high-risk population, is needed.Materials and methods: A survey of LTC physicians informed key questions and outcomes, ...

TGFβ is a family of ubiquitous growth factors that play a prominent role in bone biology. In normal bone remodeling, TGFβ1 released from the bone matrix by osteoclasts, attracts mesenchymal stem cells to sites of resorption thereby ensuring that new bone restores eroded older bone. TGFβ also promotes osteoblast proliferation but later restricts osteoblast maturation by repressing the expression of genes involved in bone formation. Recent evidence has demonstrate...

Biographical DetailsSusan Schiavi has spent her career as a research scientist within the biotech/pharmaceutical industry. She received her PhD from the University of Massachusetts Medical School and completed a postdoctoral fellowship at Harvard Medical School. As a Senior Scientific Director at Genzyme and Sanofi, her primary role has been the development of scientific strategy for the ...

Biomechanical strength testing of bones, considered a key component in bone quality assessment, is a critical end-point in the evaluation of safety and efficacy of test compounds in preclinical studies. Bones are usually preserved frozen and tested within a few months following harvesting. They can also be stored for longer periods and only tested when additional information is required. The objective of this study was to evaluate if differences in biomechanics data between di...

Familial expansile osteolysis (FEO) is characterised by focal areas of increased bone turnover driven by bone-resorbing osteoclasts. The syndrome is caused by a heterozygous tandem insertion duplication mutation within the signal peptide region of TNFRSF11a (encoding receptor activator of NFκB; RANK). Our recent research has demonstrated that heterotrimeric receptor formation may hold the key to the disease phenotype. We have shown previously that, whilst homozygous overe...

Early-onset Paget’s disease of bone (ePDB), familial expansile osteolysis (FEO) and expansile skeletal hyperphosphatasia (ESH) are related syndromes caused by heterozygous tandem insertion duplication mutations within the signal peptide region of TNFRSF11a (encoding receptor activator of NFκB; RANK). Given that patients are always heterozygous for these mutations we have generated thirteen cell lines to investigate the molecular consequences of these mutations in...

Introduction and aims: Vitamin D deficiency is a prevalent disorder in developing countries. Clinical manifestations of the deficiency include musculoskeletal disorders, such as nonspecific muscle pain, poor muscle strength and low bone mineral density (BMD). The aim of this study was to determine the prevalence of vitamin D deficiency and low BMD in healthy Saudi women.Methods: The subjects of this cross-sectional study comprised 449 healthy Saudi women...

Objectives: Marfan syndrome (MFS) is a connective disorder caused by mutations in FBN1 gene which encodes the extracellular matrix protein fibrillin 1. Pathogenesis relies on a dysregulation of activated TGF-β. Cardiovascular, ocular and skeletal systems are involved with a variable expressivity. Findings evolve with age, making the diagnosis in children more difficult. Skeletal involvement includes disproportionate long bone overgrowth, scoliosis, and chest deformity. Al...

The interaction of Receptor Activator of NFkB ligand (RANKL) with its cognate receptor RANK is crucial for osteoclast formation. We studied eight point mutations within human RANK associated with rare forms of osteopetrosis to gain mechanistic insights into the regulation of RANK signalling.We investigated the role of the oligomerisation domain within the cytoplasmic region of RANK studying two mutations (W434X and G280X) identified in rare cases of oste...

It has been previously reported that prolonged treatment with rhPTH(1–34) or rhPTH(1–84) in rats is associated with the development of bone neoplasms including osteosarcomas. However, to date there has been no evidence of an increased osteosarcoma risk of in patients treated with rhPTH(1–34) or rhPTH(1–84), or in diseases associated with chronic PTH elevation. Abaloparatide (ABL) is a novel analog of PTHrP(1–34) currently being developed as a treatment...