Bone Abstracts

Although Vitamin D deficiency is the most common form of rickets worldwide, when there is a failure to respond to cholecalciferol, inborn errors of vitamin D metabolism should be considered. We describe two unrelated individuals who presented with early onset rickets characterised by reduced serum levels of 25(OH)D and 1,25(OH)2D, and a deficient response to Vitamin D2/D3 and calcitriol. Case 1: A Caucasian Australian girl with non-consanguineous parents ...

Objective: Autism Spectrum Disorder (ASD) is associated with lower bone mass in children. Physical activity and nutrition influence bone pathophysiology, and differences in these lifestyle factors are observed between children with vs. without ASD; however, whether these factors contribute to bone differences is unknown. We examined if: 1) differences existed in bone mineral density (BMD), content (BMC), or bone geometry in boys with vs without ASD and 2) whether physical acti...

Background: Hypercalcaemia is a risk following stem cell transplant (SCT) for all types of autosomal recessive osteopetrosis (ARO) due to restored osteoclast differentiation. This can be particularly severe in the osteoclast-poor (OP) form involving the tumour necrosis factor receptor superfamily 11A (TNFRSF11A) gene, encoding RANK. Denosumab, a monoclonal antibody blocking RANK activation, has been described for refractory post-SCT hypercalcaemia in two cases. Our case adds n...

Objectives: Asfotase alfa (AA), an enzyme replacement therapy, is the only approved treatment for pediatric-onset hypophosphatasia (HPP). We evaluated the safety profile of AA from the clinical trial program spanning pediatric and adult patients.Methods: Safety data were pooled from 4 open-label, multicenter studies in children aged ≤3 years (study 002/003 [NCT00744042/NCT01205152]; n=11) and ≤5 years (study 010-10 [NCT01176266]; <em...

Objectives: Autosomal recessive osteopetrosis (OP) is a rare metabolic bone disease characterized by impaired osteoclast function resulting in defective bone resorption and generalized high bone mineral density (BMD). Excessive bone compromises bone marrow space, leading to marrow failure. The infantile malignant form is typically fatal within the first decade of life. The intermediate form presents later during childhood. Currently, the only potential curative therapy for OP ...

Purpose: Systemic sclerosis (SSc) is a rare inflammatory rheumatic disease that has been associated with an increased risk of low bone mineral density (BMD). However, data on risk factors associated with bone loss in SSc are scarce. The objective of this study was to investigate the prevalence of and the risk factors for low BMD in patients with SSc.Methods: Cross-sectional data of 61 patients with SSc were collected. BMD in the lumbar spine, total hip a...

Background and objective: High-resolution magnetic resonance imaging (hrMRI) can assess trabecular bone microarchitecture but the number of image slices required for reliable assessment is unclear.Methods: MRI was performed just below the growth plate of the proximal tibia from 20 healthy controls (all female; median age 21 years (range 18–35) and 10 cases (three mals: seven females; median age 19.5 years (range 16–48) with known bone abnormali...

Calcium phosphate cements (CPC) are used as bone graft substitute, e.g. in the treatment of lytic bone lesions in multiple myeloma. CPC provide crucial advantages, such as osteoconductivity, biodegradability and the potential drug loading. Though, it lacks retarded drug release for short-/long-term treatment due to the free diffusion of small molecules through the micropores in the CPC.Thus we present dendritic glycopolymers (DG) consisting of poly(ethyl...

Objectives: To compare and contrast the natural history of osteoporosis and response to zoledronate in children and adolescents with Duchene muscular dystrophy (DMD), spinal muscular atrophy (SMA) or other congenital muscular dystrophies (CMD).Methods: A retrospective medical record review of fracture history, treatment and bone mineral densitometry of children managed at a tertiary centre in Sydney over the last 6 years.Results: A...

Objective: The potential for clinical trials to impact patient care may be limited if the outcomes reported vary by trial and lack direct relevance to patients. We aimed to systematically assess the scope and consistency of outcomes reported in randomised trials of interventions for children with osteogenesis imperfecta.Methods: We systematically searched for all published and unpublished randomised trials of interventions for children with osteogenesis ...