Bone Abstracts

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...

Objective: Turner syndrome (TS) is a chromosomal aberration characterized by total or partial loss of one of the two X-chromosomes, and affects about 1 in every 2500 girls. TS patients can develop the bone disease with decreased bone density and selective reduction in cortical bone thickness, which probably contributes to the increased fracture risk. However, the mechanisms underlying the bone disease remain poorly understood. Thus, the aim of this study was to investigate the...

Objectives: To evaluate bone health and its possible correlations to body composition parameters in young patients with galactose metabolic disorders, aiming to suggest appropriate lifestyle interventions.Methods: We studied 22 patients, aged 5–16 years with galactose metabolic disorders, detected by neonatal screening. Fourteen suffered from classic galactosemia and eight from other galactose metabolic disorders (i.e. epimerase or galactokinase def...

Objectives: The ability to discriminate bone fractures that result from non-accidental injuries and those that result from underlying bone fragility is limited by the lack of clinical instrumentation to directly measure bone mechanical properties. The BioDent Hfc (Active Life Scientific) is an experimental device that has been validated for measuring cortical bone fracture resistance in adults. We are currently developing protocols to test the feasibility of its use in infants...

Objectives: To determine the prevalence and intensity of D-deficiency in children and adolescents in the metropolitan area with subtotal deficiency of ultraviolet B (55° N).Methods: From May 2008 to May 2010 in a random sample of 163 Muscovites 0–18 years old (9.9±0.4; girls/boys, 81/82) serum 25-hydroxyvitamin D content was determined by chemiluminescent analysis (DiaSorin, Inc., USA; n=56 and Roche Diagnostics; n=107). ...