Bone Abstracts

Background: Rett Syndrome (RS) is a disabling condition due to mutations in MECP2. Girls affected with RS are at risk of developing osteoporosis and fractures at a young age because of their lack of mobility and through a direct effect of MECP2 on bone mineralization. In these girls, bone fragility inflicts pain and may seriously impair the quality of life.Objective: To retrospectively assess the effect of IV bisphosphonates on fracture, bone mineral den...

Objectives: Endocrine late effects, including osteopathologies, following diagnosis and treatment of childhood malignancies are studied in adult survivors with alarming results. However, in pediatric patients with brain tumors the risk to develop endocrine late effects is high even during childhood and adolescence.Aim and design: To investigate osteopathologies and endocrine function in juvenile survivors of pediatric brain tumors we conducted a cross-se...

Objectives: FGF23 is expressed in clusters of osteocytes at the trabecular periphery suggesting that FGF23-expressing osteocytes are confined to specific basic multicellular units (BMUs) at the trabecular surface. Higher numbers of FGF23-expressing osteocytes are found in chronic kidney disease (CKD) patients with preserved skeletal mineralization indices. We thus combined immunohistochemistry and quantitative backscattered electron imaging (qBEI) to explore the hypothesis tha...

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...

Background: A minority of children with Osteogenesis Imperfecta (OI) seen within the Sheffield National Severe, Complex and Atypical Service (SCAOI) were also identified as showing symptoms consistent with an Autism Spectrum Disorder (ASD) (Balasubramanian et al. 2018). Diagnosis of ASD in conjunction with OI may be delayed due to presenting problems being inappropriately attributed to OI resulting in specialised ASD input not being received by children.<p class="...

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 ...

Bones’ fracture resistance is achieved in vivo by adaptation to habitual loading. Aged bone can adapt to exercise1 but in female rodents ageing impairs the adaptive response to artificial loading2,3. This inconsistency led us to investigate whether treadmill exercise, sufficiently mild to not itself stimulate new bone formation, could rescue aged bone’s diminished response to artificial loading.Young adult 17-week...

Osteogenesis imperfecta (OI) is a genetic disorder, leading to fragility of the bones. The clinical variability is extreme, ranging from relatively mild to perinatally lethal. Secondary features such as short stature, blue sclerae, dentinogenesis imperfecta and hearing loss may also exist in affected individuals. OI is most often caused by mutations in the collagen type I genes COL1A1 and COL1A2, that show a dominant mode of inheritance. The least severe OI c...

Childhood cancer has become curable in the majority (>70%) of patients. This is mainly due to rising intensity of treatment, including (combinations of) surgery, chemotherapy, radiotherapy and stem cell transplantation. In addition, intensive international collaboration for rare subgroups, enhanced stratification for treatment regimens and optimised supportive care has contributed to the improved survival of pediatric cancer that was accomplished over the last decades....

To understand differences in bone health between and within populations, it is crucial to characterise bone development during childhood and adolescence. Peak height velocity at age 16 and young adult height at age 23.5 years were recently reported in Gambian males accustomed to low calcium intake1. Our study aims to describe bone accrual after peak height velocity in the same population.We used peripheral quantitative computed tomography to m...