Bone Abstracts

Fibroblast growth factor-23 (FGF23) is a major regulator of phosphate metabolism often elevated in genetic hypophosphataemic disorders and in chronic kidney disease–bone mineral disorder (CKD–BMD). Recent studies have identified relationships between FGF23 and vitamin D.Objectives: To determine the relationship between vitamin D and FGF23 metabolism in CKD.Method: We used randomized samples from patient...

Background: Pseudohypoparathyroidism (PHP) is a group of heterogeneous endocrine disorders characterised by hormone resistance, primarily to parathyroid hormone (PTH). The resistance is caused by defects in the GNAS gene, which encodes the Gsα protein that activates the cAMP pathway. PHP patients demonstrate elevated plasma PTH, hypocalcaemia, hyperphosphataemia with normal renal function. PTH resistance can be confirmed by Ellsworth-Howard test (PTH s...

Background: Proteus syndrome (PS) is a rare mosaic disorder comprising asymmetric bony and soft tissue overgrowth leading to significant morbidity. Placement of guided growth hardware with subsequent epiphyseal arrest improves leg length and angular deformities in pediatric patients without PS.Presenting problem: The purpose of this study was to review the surgical approach and present outcomes, complications, and recommendations in eight patients with P...

Objective: The physis, or growth plate, is comprised of precisely organized chondrocytes that confer longitudinal growth of the bone. Multiple signaling pathways cooperate to regulate growth through their control of chondrocyte shape, polarity, proliferation, and differentiation.1,2 Disruption of these cellular events result in physeal defects, skeletal deformities, and abnormal limb growth. Loss of function mutations in Smad4, a common intracellular effector of all...

Patients with improved health understanding have greater autonomy over, and motivation towards, health-related lifestyles. We compared self-perceived fracture risk and 3-year incident fracture rates in postmenopausal women for a range of co-morbid diseases using data from the Global Longitudinal study of Osteoporosis in Women (GLOW).GLOW is an international cohort study involving 723 physician practices across 10 countries in Europe, North America, Austr...

Introduction: Osteogenesis imperfecta (OI) is a clinically heterogeneous heritable connective tissue disorder characterised by increased bone fragility and low bone density, resulting in frequent fractures from little or no trauma and bony deformities such as curvature of the long bones. Type and severity of OI is variable. OI affects the physical, social and emotional well-being of the child, young person and their family. The long term goal for children and young people with...

Background: Osteogenesis imperfecta (OI) is a rare skeletal disorder characterised by bone fragility usually due to inherited mutations in the genes for type 1 collagen. Children with OI present with numerous physical manifestations due to ligamentous laxity and bone fragility (1).Presenting problem: Poor posture and associated back pain is a common problem for many children with mild to moderate OI. Hypermobility can result in muscle imbalance which may...

Background: Bisphosphonates are increasingly used to treat disorders of low bone mineral density (BMD) in children and adolescents. Long-term bisphosphonate use in adults has been associated with and increased risk of atypical subtrochanteric and diaphyseal femoral fractures (AFFs). To date, bisphosphonate-related AFFs have not been reported in children or adolescents.Presenting problem: A 16-year-old girl presented with a 3-week history of left thigh pa...

Pain is common in patients with fibrous dysplasia (FD), however the mechanisms and presentation of pain is poorly understood. Retrospective studies have shown that pain in FD presents along a broad spectrum, responds variably to treatment, and does not correlate with FD disease burden. Pain may be generally conceptualized into two categories: nociceptive pain (associated with actual or potentially tissue damaging stimuli) and neuropathic pain (caused by dysfunction of the soma...

Background: Denosumab is licensed for the treatment of osteoporosis in the UK. Guidance issued by NICE and SMC in indicated that Denosumab may be used in the treatment of patients with postmenopausal osteoporosis who are unsuitable for other treatments. Here we have reviewed the clinical characteristics of patients treated within a secondary care referral centre adverse events encountered during treatment.Methods: We reviewed data from 75 consecutive pat...