Bone Abstracts

Hypophosphatasia (HPP) is a rare genetic disease characterised by low tissue-nonspecific alkaline phosphatase activity, causing defective mineralisation of bone and teeth. There is limited data on the measurement of bone mineral density (BMD) and body composition in these children.Objectives: To assess whether BMD and lean body mass (LBM) in treatment naïve children with HPP correlate with functional outcomes using the 6-minute walk test (6MWT)....

Fractures are very common and affect 2% of the population per annum. Fragility fractures represent the greatest unmet need and are associated with high rates of morbidity and mortality. Currently, there is no approved therapy for enhancing healing of fragility fractures. We previously reported that upregulation of the early inflammatory response following skeletal injury can promote fracture repair (Glass et al PNAS 2011). Inflammation represents the earliest response followin...

Introduction: Paget’s disease of bone (PDB) has an autosomal-dominant mode of inheritance in one-third of cases. The germinal SQSTM1/P392L mutation is the most frequent mutation, present in 40% of patients with a familial form of PDB, and 8% of unrelated patients. Fibrous dysplasia (FD) is a rare bone disorder, mono or polyostotic, caused by post-zygotic mutations in GNAS gene, for which a PCR-clamping method was developed to ease their detection and avo...

Extreme high bone mass (HBM) may be monogenic (e.g. LRP5 mutations) or polygenic, due to variants in the same genes determining bone mineral density (BMD) as found in the general population. We aimed to determine how variation in established BMD loci, in different functional pathways, explains the HBM phenotype.241 unexplained HBM cases (lumbar spine(LS)1+total hip(TH) Z-scores≥+4.4) were recruited from 15 UK centres, by screening...

Objectives: To assess the role of whole-body MRI in the diagnosis and management of chronic recurrent multifocal osteomyelitis (CRMO) is a benign and non-infective auto-inflammatory bone disorder characterised by multiple and recurrent inflammatory bone lesions. No universal diagnostic criteria exist.Methods: Retrospective review of CRMO cases diagnosed at this hospital between 2008 and 2014. Cases were identified from patient records and clinical inform...

Background: Chronic recurrent multifocal osteomyelitis (CRMO) is an auto-inflammatory bone disorder that has been difficult to diagnose in the past. Diagnosis used to depend on bone biopsy but can now be made with whole-body MRI scan.Presenting problem: A 9-year-old healthy girl had a 2-year history of pain, swelling, redness and heat in her right foot following a fall from bars in the park. She had an X-ray of her foot on the day of injury which was rep...

Radiosurgery of the spine is used to treat patients with spinal metastases. Recent studies have shown increased fracture risk in patients treated with high doses of irradiation. This study tested if there is a dose response relationship between prescribed radiation and induced bone loss and metabolism.Methods: Vertebral bodies C5–C7 of ~50 week old female Yucatan minipigs were irradiated at 16, 20, and 24Gy (n=5/dose). The cervical spine re...

Romosozumab is an investigational bone-forming agent that inhibits sclerostin. Recent data demonstrated that it stimulated bone formation, decreased bone resorption, and led to rapid and substantial increases in areal bone mineral density (BMD; McClung, J Bone Miner Res 27 (S1) S8–S9, 2012). In a Phase 1b, randomized, double-blind, placebo-controlled, multiple dose study, we studied the effects of romosozumab administered for 3 months and follow-...

Bisphosphonates are used to treat bone disease characterised by increased bone resorption by inhibiting the activity of mature osteoclasts, resulting in decreased bone turnover. Bisphosphonates may reduce the population of osteoclast precursor cells (OPCs). Our aims were to investigate the effect of bisphosphonates on i) OPCs and ii) bone turnover in postmenopausal women with osteoporosis compared with healthy premenopausal women. Participants were 62 postmenopausal women (mea...

Treatment of postmenopausal osteoporosis with bisphosphonates reduces bone resorption and formation. Sclerostin, an osteocyte regulator of bone formation may be involved in these changes. Some studies have reported an increase in sclerostin associated with bisphosphonate treatment while others have reported a decrease. The aims were to determine the effect of bisphosphonates on i) circulating sclerostin and ii) PINP in postmenopausal women with osteoporosis. We studied 92 post...