Bone Abstracts

The vertebral body microstructure of young individuals appears to be divided into three equally high horizontal regions: two adjacent to the endplates and one in the centre of the vertebral body. With age this subdivision of the vertebral microstructure seems to vanish. The aim of the study was to investigate the differences in the age-related changes in vertebral microstructure in the two regions.Vertebral (L2) bone specimens from 41 women and 39 men ag...

GNAS-Gsalpha based disorders lead to heterogeneous diseases associated with abnormal bone development via two distinct mechanisms. At the level of the growth plate in bones, the PTHrP/PTH1R/Gsalpha/cAMP/PKA/PDE signalling pathway regulates endochondral ossification. PTHrP binds to the PTH receptor (PTH1R) which then couples with the stimulatory G protein (Gsalpha) leading to cAMP formation. cAMP binds to the regulatory 1A subunits (R1A) of the PKA. Upon binding the catalytic s...

Bone loading is a primary determinant of bone strength in later childhood and adulthood. Our understanding of how mechanical stimuli generated by foetal kicking and movements impact skeletal development is still limited. Many studies suggest that a sufficient and balanced supply of energy, proteins, vitamins, calcium, phosphorus, and other nutrients is an essential prerequisite for normal bone development. However, only few studies highlight the contribution of the biomechanic...

Objectives: Deteriorating bone mineral density and fragility fractures are common complications of Duchenne Muscular Dystrophy (DMD). This study aims to evaluate the effects of bisphosphonate therapy and testosterone supplementation (for pubertal induction) on the bone health of children with DMD.Methods: This retrospective cohort study examined the clinical records of children with DMD managed at the Neurogenetics and Endocrine clinics at The Children&#...

Objective: In 2018 we started treating children with X-linked hypophosphataemic rickets (XLH) with burosumab, initially as part of an industry-sponsored early access program. We present what we did, the barriers to implementation and broader lessons for the introduction of treatments for rare bone diseases in the future.Method: Firstly, we identified suitable patients under the age of 18 years with XLH. For convenience we arranged dedicated clinics in wh...

Rationale and Hypothesis: Standard practice for differentiating fractures from sprains requires conventional radiographs. Up to 21% of wrist and ankle radiographs in children are negative at a local cost of over £100,000 per annum, approximately £12 million per annum across England and Wales. Our recent pilot study in adults confirmed that vibration analysis in injured patients causes no discomfort.Objectives: To assess the ability of vibration...

Objectives: To investigate the impact of Type 1 Diabetes Mellitus (T1DM) on cortical and trabecular microarchitecture, and bone strength in adolescents; using High Resolution peripheral Quantitative Computed Tomography (HRpQCT) and microfinite element analysis. To our knowledge, this is the first study in children, assessing the impact of T1DM on skeletal microstructure and strength using HRpQCT.Methods: We recruited 22 patients aged 12–16 years wit...

Gaucher disease (GD) is a lysosomal storage disorder due to deficiency of glucocerebrosidase, leading to glucocerebroside storage mainly in macrophages, but also in other cells (lymphocytes, osteoblasts, and neurons).Clinically important bone manifestations of GD include severe acute ‘bone crisis’ (acute avascular osteonecrosis), medullary infarction, osteopenia or osteoporosis, osteolytic lesions, pathologic fractures, defective bone remodelli...

Objective: Type 1 diabetes mellitus (TIDM) has been shown to adversely affect bone health in children. Hence, objective was to assess bone health status of children with T1DM, and to assess relationship between bone status and disease duration.Methods: Bone mineral content for total body (less head) (TBBMC) and lumbar spine was measured by DXA in 47 (25 boys) children with T1DM. Z-scores for TBBMC for bone area (TBBA), TBBA for height, lean body...

Objective: To examine the impact on growth and bone mineral density (BMD) of tyrosine kinase inhibitors (TKI) vs hematopoeitic cell transplant (HCT) for treatment of chronic myelogenous leukemia (CML) in patients <18 years of age.Methods: We performed a retrospective review of children with CML in chronic phase treated between 1992 and 2011 at a single institution and evaluated available growth and BMD data.Results: Twenty-five...