Bone Abstracts

Objectives: A heterozygous missense mutation p. C218G in WNT1 was recently identified as the cause of severe primary osteoporosis (Laine et al., New engl J Med 2013). The mutation has thus far been identified in two large Finnish families presenting with dominantly inherited, early-onset osteoporosis, with affected adult patients showing reduced bone mineral density (BMD), vertebral compression fractures, kyphosis and height loss. This study examined characte...

Objective: Osteoporotic fracture is the most severe complication of osteoporosis and vertebral column suffer the highest risk. The aim of the part I study was to evaluate the prevalence of vertebral fracture, distribution of prevalent fractures as well the grade of the fractures in community-dwelling elderly in China southern city.Methods: A population of 6142 elderly over 50 years old from four communities in China southern city was gathered voluntarily...

Rationale: Trabecular Bone Score (TBS) is a texture-based tool analyzing DXA images in order to assess bone microarchitecture in the lumbar region. In pediatric population, definition of normative values has remained elusive due to the disparities of results in normal population, probably link to uncontrolled factors which impact bone microarchitecture and the nonlinear behavior of bone growth. Our objective was to evaluate TBS in healthy Mexican children and adolescents using...

Objective: The significance of low alkaline phosphatase (ALP) is often not recognised by clinicians. It is the hallmark of hypophosphatasia and this oversight leads to delays in diagnosis, inappropriate treatment and potentially harm. Using the standard that an abnormal result should be recognised by the clinician and the potential cause and need for further investigation documented in the medical records we conducted an audit of our practice at the Royal National Orthopaedic ...

Background: Familial hypocalciuric hypercalcaemia type 3 (FHH3) is a genetically heterogenous autosomal dominant disorder caused by loss-of-function mutations in the AP2S1 gene. This gene encodes the alpha-2 subunit of the adaptor protein-2 complex, which facilitates endocytosis of plasma membrane constituents such as G-protein coupled receptors.Objective: It has been suggested that FHH3 may be associated with cognitive deficits (1). We assessed...

Background: Since Microcephalic osteoplasic dysplasia; Saul Wilson Syndrome (SWS) was first reported by Saul and Wilson in 1990 only 14 cases have been reported worldwide. In 2018 Ferreira et al identified the pathophysiological mechanism for SWS as a recurrent De Novo Heterozygous COG4 Substitution.Objective: To describe the diagnostic process in a case of SWS.Presenting problem: The patient is the first-born child of healthy, non...

Background: A minority of children with Osteogenesis Imperfecta (OI) seen within the Sheffield National Severe, Complex and Atypical Service (SCAOI) were also identified as showing symptoms consistent with an Autism Spectrum Disorder (ASD) (Balasubramanian et al. 2018). Diagnosis of ASD in conjunction with OI may be delayed due to presenting problems being inappropriately attributed to OI resulting in specialised ASD input not being received by children.<p class="...

Introduction: Normal mechanical loading potently induces bone formation via effects on osteocytes. Current investigations of mechanical loading of bone do not reflect the interactions of the cells within it, mostly focusing on mechanical loading of osteoblasts in monolayers. Existing 3D models do not elucidate the osteoblast-osteocyte interactions that regulate mechanically-induced bone formation. We developed a novel in vitro 3D co-culture model of bone1 t...

Introduction: The utility of the determination of bone turnover markers in the evaluation of fracture risk at the patient level is not well-established. In type 2 diabetes (T2DM) there is an increased risk of fractures despite of higher bone mineral density. A recent study shows that a femoral neck T-score of −2.1 in males and −1.9 in females with T2DM present the same fracture risk than subjects without diabetes with a T-score −2.5 (Schwart...

Introduction: FGF3-associated hypophosphatemic rickets (HR) is a rare disorder caused by excessive renal phosphate wasting. Patients may suffer from limb deformities and low turnover femoral fractures have been described. The aim of this study is to evaluate DXA derived hip geometry of adult HR patients using hip structure analysis (HSA).Materials and methods: Cross-sectional study of HR patients (n=21) at Odense University Hospital compared to ...