Bone Abstracts

Background: A 15 year old boy with antenatally diagnosed osteogenesis imperfecta (OI) was reviewed following concerns about poor linear growth, lack of pubertal development and persistent deciduous teeth. He had a history of crush fractures of L1–L2 and previous intra-medullary rodding of his right femur and had been on oral bisphosphonates (Risedronate 70 mg once weekly). He was significantly short (height SDS −4.9), substantially below his genetic potential (targe...

Background: Relationships between muscle function and bone have been examined using a range of techniques, with conflicting results. We aimed to determine these associations within an adult population comprising individuals with high bone mass and family controls.Methods: Recruitment was from four UK sites within the high bone mass (HBM) study; cases and unaffected family controls were pooled. Peak ground reaction force and peak power, during a multiple ...

Background: Proline and hydroxyproline account for ~25% of aminoacids in collagen., Prolidase (peptidase D (EC 3.4.14.9)), cleaves iminodipeptides with a C-terminal proline or hydroxyproline, playing a major role in collagen catabolism. Mice with prolidase deficiency (PD) present with varied phenotypes including reduced size compared to wild-type littermates. We measured structural and mechanical properties of bones in PD mice.Methods: Whole femurs from ...

Introduction: Bone health in patients with sickle cell disease and thalassemia is impaired. These patients feature altered parameters of bone metabolism and bone mineral density.Aim and design: To investigate bone health in patients with hemolytic anemia we conducted a cross-sectional analysis in our Hematology Outpatient Clinic at the Children’s Hospital Essen. The largest subgroups within our cohort are patients with homozygous sickle cell (HBSS) ...

Background: We have recently identified interleukin 1B (IL-1B) as a potential biomarker for predicting breast cancer patients at increased risk for developing bone metastasis. In mouse models, IL-1B and its receptor (IL-1R1) are upregulated in breast cancer cells that metastasise to bone compared with cells that do not. We have now investigated whether blocking IL-1R with the clinically licensed antagonist, anakinra, might be a potential treatment for breast cancer and bone me...

Multiple myeloma is usually incurable, the bone marrow niche providing a protective microenvironment for quiescent tumour cells. We hypothesised that manipulation of BMP activity, a regulator of cell differentiation in the bone marrow, might affect control of tumour growth by its niche and in addition alter the lytic bone disease of myeloma. Moreover BMP signalling contributes to the hepcidin upregulation and resultant inflammatory anaemia that is characteristic of myeloma. Re...

Calcium supplements are associated with increased cardiovascular risk, but the mechanism by which this occurs is presently uncertain. In a secondary analysis of a trial examining the acute effects of calcium supplements, we found that blood pressure declined over 8 h in the control group, consistent with its diurnal rhythm, and that this decline was smaller in the calcium group [1]. To investigate these effects further, we carried out a randomised controlled cross-over trial o...

Animal studies suggest that fetal movements are key to healthy skeletal development, but evidence in humans is limited. Breech presentation occurs in 3% of term births and is associated with reduced fetal movement and higher incidence of hip dysplasias, but more general effects on bone development have not been explored.Offspring whole body bone outcomes were measured using dual-energy X-ray absorptiometry (DXA) at mean(SD) 6(5) days after birth in 993 i...

Introduction: Achondroplasia, the commonest skeletal dysplasia, is caused by specific variant(s) in the fibroblast growth factor receptor 3 (FGFR3) gene that cause abnormal spine, skull and limb bone growth. Surgical indications for foramen magnum stenosis in this population vary widely in the literature.Methods: We performed a retrospective analysis of patients with achondroplasia aged >20 years (n=33) in our regional skeletal dysplasia cli...

Hereditary multiple osteochondromas (HMO) is an autosomal dominant rare genetic disorder due to LOF heterozygous mutations in EXT1 or EXT2 genes. HMO is an unmet medical condition where patients often requiring multiple surgeries. HMO is characterized by painful cartilaginous capped bony outgrowths at the growth plate (GP) regions of long bones, ribs and other skeletal elements. The molecular mechanism by which these mutations lead to disease is unknown. Mutations in EXT1 and ...