Bone Abstracts

Between 5000 and 8000 rare diseases affect the daily lives of around 30 million people in the EU. Many of those affected by a rare or complex conditions frequently undergo to late diagnosis and inadequate care and do not have access to high quality treatment. European reference networks (ERNs) for rare diseases should serve as research and knowledge centres, updating and contributing to the latest scientific findings, treating patients from other Member States and ensuring the...

Background: Congenital tibial pseudarthrosis (CTP) presents with anterolateral bowing of the lower leg in infancy, which often progresses to fracture and non-union (pseudarthrosis). CTP occurs in 2–3% of children with NF1. The distal end of the fibula and other long bones can also be affected.Objective: We describe three children in whom NF1 related congenital tibial or fibular pseudarthrosis was initially misdiagnosed as NAI....

Objectives: To identify and determine the extent to which effective/ineffective steps in the implementation of the Kaiser Permanente Southern California Healthy Bones Model of Care were perceived by physician champions and Healthy Bones Care Managers.Methods: The subjects in the study included 20 Physician Champions and 35 Healthy Bones Care Managers employed in the Kaiser Permanente Southern California Healthy Bones Model of Care.25 have been employed i...

Metastases to the bone are the incurable final outcomes of cancer, reducing both length and quality of life in an aggressive way. Despite the discoveries of many factors involved, no cure has been found. Metastatic outgrow starts in interaction with the bone micro-environment. The first attachment in bone is with the osteoblasts lining the endosteal surface. Our aim is to study the role of the osteoblasts in metastatic tumor spread and growth.We used an ...

Turn your challenges into opportunities through EU funding for research and innovation.The European Union encompasses several funding mechanisms to support research and innovation (R&I). One of its main instruments is Seventh Framework programme (FP7), established for the period 2007–2013, which is now approaching its end.The successor EU instrument, called Horizon 2020 (H2020), is currently under ...

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...