Bone Abstracts

The role of the WNT pathway in skeletal maintenance has been extensively studied since the identification of mutations in key signaling WNT mediators (LRP5 and sclerostin) in high and low bone mass phenotypes. However, the identity of the key WNT ligand that signals via LRP5/6 has remained unknown. We aimed to identify genes with a major effect on the skeleton by studying individuals and families with early-onset osteoporosis or osteogenesis imperfecta (OI).<p class="abste...

Introduction and objective: Adolescent idiopathic scoliosis (AIS) is a structural spinal deformity characterized by 3D deformity with lateral curvature of ≧10° as measured by Cobb angle and is predominately seen in girlsaged between 10 and 16-years-old. Low bone mass has been found to be a significant prognostic factor for curve progression in AIS.In our hospital, computed assisted navigation is used for intraoperative pedicle screw placement...

Objectives: X-linked hypophosphataemia (XLH) is a rare inherited form of osteomalacia characterised by low blood phosphate levels which lead to inadequate mineralisation of bone and rickets. Burosumab is an anti-FGF23 fully human monoclonal-antibody, and the first treatment to target the underlying pathophysiology of XLH. Real-world evidence is important in validating the findings of clinical studies. We report relevant real-world biochemical data on children under five years ...

Objectives: X-linked hypophosphataemia (XLH) is a rare inherited form of osteomalacia characterised by low blood phosphate levels which lead to inadequate mineralisation of bone resulting in rickets, skeletal abnormalities, physical impairment, weakness, and pain. Burosumab is an anti-FGF23 fully human monoclonal-antibody, and the first treatment to target the underlying pathophysiology of XLH. Real-world evidence is important in validating the findings of clinical studies. We...

Intermittent PTH administration (iPTH) increases bone mass in humans and animals. PTH exerts its effects by binding to PTH type 1 receptor (PTHR1) predominantly expressed in osteoblasts, resulting in activation of multiple downstream signaling pathways. In vitro investigations have suggested that p38 mitogen-activated protein kinase (MAPK) signaling is an important mediator of PTH-induced osteoblast functions.To evaluate the contribution of p38a...

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...

Objective: The purpose of this study was to compare the efficacy of raloxifene (RLX) 60 mg daily, vitamin D (VD) 200 IU daily, and alendronate (ALN) 35 mg once weekly on bone mineral density (BMD) of lumbar spine (L) and total femur (F) in postmenopausal women with osteoporosis, and the effects of the osteoporosis risk factors on BMDs and these treatments.Design and methods: The subjects were 242 postmenopausal Japanese women aged 48–87 years (mean ...

Objectives: Osteopenia is a complication of childhood cancer treatment but it is unknown to which extend this occurs in adult survivors, and which subgroups are at risk. We examined bone mineral density (BMD) and assed the relative importance of potential determinants of low BMD in very long-term adult survivors of childhood cancer.Methods: The single-center cohort study included 410 adult CCSs (median age at diagnosis: 6.6 years (range: 0–17 years)...

Introduction: Effective screening for vitamin D (Vit-D) insufficiency is desirable. Pigmentation of unexposed (constitutive) skin and exposed (facultative) skin can be measured with skin colourimetry to assess dermal capability in synthesizing Vit-D and degree of sunlight exposure respectively. This study aimed at evaluating whether skin colourimetry could be used to screen Vit-D insufficiency among adolescents.Methods: 240 healthy adolescents (mean age=...

The relationship between BMD T-score and FX risk has not been established in patients receiving osteoporosis therapy. In the FREEDOM Extension study, continuous DMAb therapy for up to 10 years increased BMD levels with no therapeutic plateau at lumbar spine or TH [Bone et al, ASBMR 2015]. Such improvements would only be meaningful if associated with FX reductions. We investigated the relationship between TH BMD T-score and NVFX in women who received DMAb during FREEDOM and tho...