Bone Abstracts

Severe generalised recessive dystrophic epidermolysis bullosa (RDEB) is a rare disorder resulting from loss of function mutations in the type VII collagen gene (COL7A1). Although RDEB is characterised by severe skin blistering and erosions following minor mechanical trauma, it is a multisystem disorder with pubertal delay and low bone mass as part of the many complications.Children with RDEB have been described as having inadequate gains in bone...

Biographical DetailsDr Mary Leonard, MD, MSCE is a Professor of Paediatrics and Epidemiology at the Perlman School of Medicine at the University of Pennsylvania, and the Director of the Office of Clinical and Translational Research at the Children’s Hospital of Philadelphia. Her multidisciplinary research program is focused on the assessment of bone health in children, and the detrim...

Understanding normal patterns of bone growth is important for optimising bone health in children and reducing osteoporotic fractures in later life. Recently published guidelines for bone assessment in children state that to predict fractures a technique should identify children at risk of clinically significant fractures and that dual-energy absorptiometry (DXA) is the preferred method of assessment. Despite these guidelines there is still inconsistency and lack of consensus r...

Skeletal development is characterized by sex-, race- and maturation-specific increases in bone strength. Studies using conventional QCT in the spine and femur, and peripheral QCT (pQCT) in the extremities provided insight into differences in compartment volumetric BMD (vBMD) and cortical dimensions but were limited by inadequate resolution to assess microarchitecture. For example, pQCT studies demonstrated that cortical vBMD was greater in females, while cortical section modul...

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Mammalian target of rapamycin (mTOR) is a serine–threonine kinase that plays a central role in a number of key cellular pathways that have been previously implicated in bone formation. mTOR mediates these diverse roles by forming two multi-protein complexes, mTORC1 and mTORC2, each of which is defined by unique proteins raptor and rictor respectively.Studies from our laboratory have previously demonstrated that inhibition of mTORC1 increases the ost...

Objectives: To evaluate the clinical outcomes of intravenous bisphosphonate treatment in children with mild-moderate osteogenesis imperfecta (OI) who had progressed from active bisphosphonate treatment to maintenance therapy for >2 years.Methods: A retrospective review was conducted on 17 patients with mild-moderate OI. Clinical data, fracture history, biochemistry, dual energy X-ray absorptiometry (DXA) parameters, vertebral measurements, bone age a...

Objectives: Examine changes in volumetric BMD and cortical structure following Crohn Disease (CD) diagnosis, and identify associations with growth, glucocorticoid exposure and disease activity.Methods: Prospective cohort study in 76 CD participants, ages 5–21 years. Tibia pQCT scans were obtained at diagnosis, 6, 12 and a median of 42 months later. Sex, race and age-specific Z-scores were generated based on >650 controls. Cortical dimen...