Bone Abstracts

Objectives: We sought to identify the disease-causing mutations in two unrelated girls with a clinical diagnosis of osteogenesis imperfecta type IV.Methods: Whole-exome sequencing and cellular studies in skin fibroblasts were conducted.Results: We identified two homozygous variants in SPARC (NM_003118.3; c.497G>A (p.Arg166His) in individual 1; c.787G>A (p.Glu263Lys) in individual 2). Secreted protein, acidic, cyste...

Introduction: Bone mineral density (BMD) is a highly heritable trait used to assess skeletal health in children and risk of osteoporosis later in life. To date >60 loci associated with bone-related traits measured at different skeletal sites have been identified. We conducted a genome-wide association study (GWAS) meta-analysis of total body (TB-)BMD in children and adults to identify genetic determinants and age-specific effects of loci on this trait.<p class="abstext...

Objectives: X-linked hypophosphataemia (XLH) is a rare inherited form of osteomalacia characterised by low blood phosphate levels which lead to inadequate mineralisation of bone and rickets. Burosumab is an anti-FGF23 fully human monoclonal-antibody, and the first treatment to target the underlying pathophysiology of XLH. Real-world evidence is important in validating the findings of clinical studies. We report relevant real-world biochemical data on children under five years ...

Objectives: X-linked hypophosphataemia (XLH) is a rare inherited form of osteomalacia characterised by low blood phosphate levels which lead to inadequate mineralisation of bone resulting in rickets, skeletal abnormalities, physical impairment, weakness, and pain. Burosumab is an anti-FGF23 fully human monoclonal-antibody, and the first treatment to target the underlying pathophysiology of XLH. Real-world evidence is important in validating the findings of clinical studies. We...

YB-1 (Y-box binding protein 1) is a multifunctional cold-shock protein that has been implicated in all hallmarks of cancer. Elevated YB-1 protein levels were correlated with poor prognosis in several types of cancers, including breast cancer (BC). In BC, high YB-1 expression is a marker of decreased overall survival (OS) and distant metastasis-free survival across all subtypes. YB-1 is also secreted by different cell types and may act as an extracellular mitogen. Therefore, ou...

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: Osteogenesis Imperfecta (OI) is most commonly caused by a defect in the genes which produce type 1 collagen. Features of OI include fractures, hypermobility and weakness. Severely affected children can present with deformities such as bowing of long bones and spinal curves. Mobility may be significantly impaired. The medical management of children with severe OI includes orthopaedic surgery and bisphosphonate treatment. Physiotherapy to promote function and partici...

Background: Sheffield Children’s NHS Foundation Trust offers a highly specialised metabolic bone service for children and young people living with Osteogenesis Imperfecta (OI). OI is a chronic health condition causing bone fragility, bone pain, bone deformity, frequent fractures and variable physical limitations with wide reaching consequences on both children and families; the potential to experience elevated psychological distress is common.Presen...

Childhood obesity is a serious global public health problem, reaching 40% of children in developed countries. While the connection between under-nutrition and growth retardation is well documented, the opposite connection between over-nutrition and bone development was barely studied. Obese children grow faster in height than normal-weighed children, and prospective studies demonstrated an over-presentation of obese children amongst fracture cases. Yet, the cellular and molecu...