Bone Abstracts

Recent studies have demonstrated that the global or osteoblast-specific deletion of neuropeptide Y Y1 receptor (Y1R), as well as the pharmacological blockade of Y1R, leads to pronounced anabolic effects in bone metabolism. This suggests that anti-Y1R drug therapy might have clinical applications for the prevention/recovery of bone loss occurring in osteoporosis. Given the high fracture incidence in this target population, it remained...

An orthogonally-anisotropic Biot-Johnson-Allard (BJA) model in which the dependences of tortuosity on porosity and angle are determined empirically from acoustic measurements on bone replicas has been developed. Phase velocities and attenuations of the fast and slow waves versus frequency, porosity and angle of propagation have been predicted by using BJA model. The attenuation of the fast wave is below 0.5 Np/m throughout the frequency and propagation angle range. The attenua...

Objectives: Bisphosphonate infusions are associated with numerous adverse effects including acute systemic inflammatory reactions and electrolyte abnormalities. The aims of this study were to evaluate the safety and efficacy of a 3-day course of prednisone on children receiving their first dose of pamidronate or zoledronic acid.Methods: A retrospective cohort of 166 patients (85 males) were commenced on pamidronate (16%) or zoledronic acid (84%) for trea...

Introduction: Benign osteopetrosis type 2 (OPTA2) (Albers-Schönberg disease) is usually associated with a heterozygous mutation in CLCN7. Patients may be asymptomatic and present following an x-ray taken for other reasons or with a low trauma fracture. There may be a family history. Homozygous mutations in CLCN7 usually result in severe disease which presents in the neonatal period or early infancy. We present a case of benign osteopetrosis associated wi...

Multiple myeloma is characterized by extensive bone marrow tumour and destructive osteolytic lesions. Both increased bone resorption and suppressed bone formation result in lesions and pathological fractures. Anti-resorptive therapies prevent further bone loss but patients continue to fracture, arguing for new therapies which increase bone strength. Anti-Sclerostin (Anti-Scl) is a potent stimulator of bone formation, is currently in clinical trials for osteoporosis, however it...

Objectives: Childhood osteoporosis can be treated with i.v. bisphosphonates in order to improve bone mass and density. The aims of this study were to evaluate the safety and efficacy of 6-monthly zoledronic acid (ZA) in children with osteoporosis.Methods: A retrospective cohort study of 27 patients (16 males and 11 females) were treated with 6-monthly ZA (0.05 mg/kg per dose) for a minimum of 1 year. Seventeen patients were immobile, 4 had steroid-induce...

Objectives: Osteogenesis Imperfecta (OI) is a collagen-related disorder. Type V OI, caused by a recurrent dominant mutation in the plasma membrane protein IFITM5/BRIL, and type VI OI, caused by recessive null mutations in the anti-angiogenic factor PEDF, have distinct features. IFITM5 S40L, reported in six patients, causes severe dominant OI with phenotype and bone histology similar to type VI, rather than Type V, OI. Our objective is to understand the pathway connecting IFITM...

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...

Background: Osteocalcin has an important role in bone metabolism. Uncarboxylated osteocalcin predicts risk for hip fracture and lower bone mineral density (BMD). Warfarin inhibits carboxylation of osteocalcin, providing a mechanistic link between warfarin and impaired bone metabolism. Studies examining the relationship between warfarin use and BMD have been inconsistent. The goal of this study was to further characterize this relationship.Population: CaM...

Background: Osteogenesis imperfecta (OI) type 15 is a rare autosomal recessive form caused by WNT1 mutations. In addition to bone fragility it may be associated with neurological impairment. We report a unique case of OI type 15 in a child with uniparental isodisomy for chromosome 12 who also has von Willebrand disease type 2N, congenital ptosis, early onset scoliosis and a movement disorder.Presenting Problem: A female infant was delivered normally at 4...