Bone Abstracts

Bisphosphonates (BPs) are used to treat bone diseases characterized by excessive bone resorption. However, BPs can negatively affect the jaw bone by causing osteonecrosis of the jaw. Previously, we showed that BPs differently affect long-bone and jaw osteoclast precursors. Administration of BPs in vivo reduced the number of jaw bone marrow cells, without affecting long-bone marrow cells. Yet, BPs increased bone volume and mineral density of both long bone and jaw. Her...

Background: Marfan syndrome (MFS) is a rare connective tissue disorder caused by mutation in the gene encoding the extracellular matrix protein fibrillin-1 (FBN1), leading to transforming growth factor-beta (TGF-β) signaling dysregulation. Although decreased axial and peripheral bone mineral density (BMD) has been reported in adults with MFS, data about the evolution of bone mass during childhood and adolescence are limited.Objectives: The aim of th...

Background/aim: X-linked hypophosphatemia (XLH) is a rare disease characterized by low phosphate level. Scientific evidence points to link between hypophosphatemia and obesity in general population. The aim of our longitudinal observational study was to investigate the prevalence of obesity and associated factors in a large cohort of children with XLH.Patients/methods: We selected 172 XLH-children of 5–20 years (113 girls/59 boys). Anthropometric pa...

Histomorphometric analysis is an essential technique to measure bone formation and resorption parameters. Here we present three novel open source image analysis packages that allow the rapid semi-automated analysis of histomorphometric bone resorption, osteoid, and calcein double labelling parameters.Mice were injected with calcein 5 and 2 days before killing. Tibia and vertebrae were fixed in formalin, embedded in methylmethacrylate and the blocks secti...

Background and aim: Burosumab is a monoclonal antibody against anti-FGF23, which has been recently approved for treatment of X-linked hypophosphatemia (XLH). Beyond clinical trials, little is known about its efficacy/safety in clinical practice which is the aim of study.Patients/Methods: 39 children with XLH were switched from conventional therapy to burosumab (starting dose 0.4 mg/kg), because of following indications: non-responder to conventional ther...

The last years, diagnosis of achondroplasia benefited of the recent advances in prenatal imaging (including 3T-CD scan), and in invasive and non-invasive molecular screening.Objectives: To analyse stage/age, diagnosis procedures and outcome on a series of 64 consecutive cases of achondroplasia, in the French Centre of Reference for skeletal dysplasia, between 2008 and 2016.Methods: Confirmed achondroplasia were included in this sin...

Objectives: Hajdu–Cheney syndrome (HCS) is an ultra-rare, genetic bone disease caused by mutations in the NOTCH2 gene. HCS is characterised by dysmorphic features, acroosteolysis, and high turnover osteoporosis. Sparse evidence in adult HCS suggests increased BMD and reduced bone turnover during bisphosphonate (BP) therapy. A single paediatric case report indicated beneficial effects of i.v. pamidronate therapy. We present four paediatric patients with HCS, their...

Objectives: To examine the association of gastrointestinal (GI) events and osteoporosis (OP) therapy initiation patterns among postmenopausal women following a diagnosis of OP from a large health plan in Israel.Methods: Women aged ≥55 years were included in the analysis if they had ≥1 OP diagnosis (ICD-9 733.0X) (date for first OP diagnosis was index date), no estrogen use, no diagnosis of Paget’s disease or malignant neoplasm. OP treatm...

Background: Valproic Acid (VPA) is a commonly used antiepileptic drug in the management of childhood epilepsy. Renal dysfunction presenting as Fanconi syndrome (FS) is a rare side effect of VPA use. This can lead to renal tubular phosphate loss, resulting in hypophosphataemic rickets, low bone mass and fractures. We report 6 children with VPA induced FS from three tertiary paediatric metabolic bone centres across England.Presenting problem: P1: Global de...

Objectives: Bone disease is a long-term complication in patients with thalassaemia and therefore current UK guidelines recommend biannual bone density assessment from the age of 10 years. The aim of this study was to evaluate bone health in children with thalassaemia major.Methods: Twenty-nine patients (11 boys) with a mean (S.D.) age of 13.07 year (2.29) with thalassaemia major had measurement of lumbar spine BMAD (L2-L4) and of total bod...