Bone Abstracts

Objectives: Murine studies have shown that iron deficiency during pregnancy can cause abnormal phosphate and bone metabolism in offspring by elevating concentrations of fibroblast growth factor-23 (FGF23). FGF23 exists in plasma as an intact phosphate- and vitamin D-regulating hormone and its C-terminal fragment, a cleavage product that possibly antagonises the intact hormone. These findings are pertinent to low-income countries, where the prevalence of iron deficiency in preg...

Objectives: Osteogenesis imperfecta (OI) is a bone fragility disorder associated with reduced muscle size, dynamic muscle function and mobility. This paired randomised controlled pilot study assessed the effect of whole body vibration (WBV) training on bone density and geometry, muscle size and function, mobility, and balance in children with OI.Methods: Twenty-four children (5–16 years) with OI types 1,4 and limited mobility (defined as a Childhood...

Introduction: Conventional therapy of osteosarcoma, a primary malignant bone tumor, includes surgical excision with wide resection, which leads to physical and aesthetic defects. Allografts for reconstruction of bone and joints and adipose tissue autologous grafts for soft tissue defects can be supplemented with mesenchymal stromal/stem cells (MSCs). Additionally MSCs may be used in tumor-targeted cell therapy. However MSCs may have adverse effects on osteosarcoma development,...

Background: Transient hyperphosphatasemia of infancy and early childhood (THI) is a benign, usually accidentally detected condition characterized by transiently increased activity of serum alkaline phosphatase (S-ALP), its bone or liver isoform, in children under five years of age, without signs of metabolic bone disease or hepatopathy. When encountered in a child with either chronic bone, liver or kidney disease, THI might concern the physician. We present a patient with urol...

Objectives: Neurofibromatosis 1 (NF1) is one of the most common autosomal dominant diseases. Skeletal involvement such as short stature, kyphoscoliosis, tibial bowing and pseudarthrosis are common osseous manifestations of NF1. Moreover, there is a growing evidence that reduced bone mineral density (BMD), is a common feature of NF1 subjects. The aim of the study was to evaluate the usefulness of Bone Mineral Density and Quantitative Ultrasound (QUS) at phalanxes in the assessm...

Background: Osteogenesis imperfecta (OI) is a clinically heterogenous heritable connective tissue disorder with increased bone fragility. Intravenous bisphosphonate therapy is the most widely used medical approach. This treatment leads to an increase of the bone mineral density and reduces the fracture rate.Presenting problem: We present our experience with five OI patients (one female, four males) between 2005 and 2016 who had bone fractures either in u...

Fibrous dysplasia of bone (FD) is a crippling skeletal disease caused by activating mutations (R201C, R201H) of the Gsα gene. We recently generated GsαR201C transgenic mice that develop a FD skeletal phenotype. The analyses of these mice demonstrated that increased bone resorption is one of the main morbidity factors in FD and that RANKL is the major molecular mediator of osteolysis at affected skeletal sites.Ob...

Objectives: Rickets is a disease of growing children with potentially serious short and long-term complications. The United Kingdom (UK) national incidence of Nutritional Rickets(NR) is unknown and thought to be increasing. This study aims to describe the incidence, presentation and clinical management of children with NR in the UK and Republic of Ireland.Methods: Data is being collected prospectively monthly between March 2015 and March 2017 from 3500 p...

Objective: The treatment of many skeletal growth and/or developmental disorders often relies on a child’s biological maturity status, frequently determined by a skeletal maturity assessment. Rapid changes in the rate of skeletal maturation (i.e., the maturational spurt) during adolescence can significantly influence biological maturity status, affecting treatment type and timing as well as clinical outcomes. However, the chronological age at which peak maturational veloci...

Objectives: Bone mineral density (BMD) in children is generally measured with dual energy X-ray absorptiometry (DXA). Digital X-ray Radiogrammetry (DXR) is a promising alternative technique, that uses BoneXpert software to measure cortical BMD on hand radiographs, expressed as bone health index (BHI). DXR is a cheap method, is easy to apply in every hospital and involves less ionizing radiation compared to DXA. We aim to compare DXR and DXA measurements for determining bone de...