Bone Abstracts

Objective: Rett syndrome (RTT) is an X-linked neurodevelopment disorder. More than 95% of RTT female have mutations in methyl-CpG-binding protein 2 (MECP2), whose protein product modulates gene transcription. Specific MECP2 mutations may lead phenotypic variability and different degrees of disease severity. It is known that low bone mass is a frequent complication of subjects with Rett syndrome. This study aimed to investigate if specific MECP2 mutations may affects the degree...

Background: Osteoporosis is common in subjects with Duchenne muscular dystrophy (DMD). Studies in paediatric DMD identified a high frequency of fragility fractures but there are no studies in the adult population. Recent updated international standards of care (2018) for children and adults with DMD recommend the following for bone monitoring:- Lateral thoracolumbar spine x-rays to screen for vertebral fracture (1–2 yearly if on glucocorticoid; 2&#1...

Total hip arthroplasty (THA) is the treatment for severe hip osteoarthritis. It improves the quality of life, pain and patient autonomy. However, a periprosthetic resorption may occur, in 3–5% of patients after 10 years of the primary surgery requiring implant replacement. Bisphosphonates (BP), inhibitors of bone resorption, represent a potential candidate for modulating periprosthetic bone loss. Randomized controlled trials have also suggested that BP could prevent early...

Although Vitamin D deficiency is the most common form of rickets worldwide, when there is a failure to respond to cholecalciferol, inborn errors of vitamin D metabolism should be considered. We describe two unrelated individuals who presented with early onset rickets characterised by reduced serum levels of 25(OH)D and 1,25(OH)2D, and a deficient response to Vitamin D2/D3 and calcitriol. Case 1: A Caucasian Australian girl with non-consanguineous parents ...

Objective: Autism Spectrum Disorder (ASD) is associated with lower bone mass in children. Physical activity and nutrition influence bone pathophysiology, and differences in these lifestyle factors are observed between children with vs. without ASD; however, whether these factors contribute to bone differences is unknown. We examined if: 1) differences existed in bone mineral density (BMD), content (BMC), or bone geometry in boys with vs without ASD and 2) whether physical acti...

Background: Hypercalcaemia is a risk following stem cell transplant (SCT) for all types of autosomal recessive osteopetrosis (ARO) due to restored osteoclast differentiation. This can be particularly severe in the osteoclast-poor (OP) form involving the tumour necrosis factor receptor superfamily 11A (TNFRSF11A) gene, encoding RANK. Denosumab, a monoclonal antibody blocking RANK activation, has been described for refractory post-SCT hypercalcaemia in two cases. Our case adds n...

Objectives: Asfotase alfa (AA), an enzyme replacement therapy, is the only approved treatment for pediatric-onset hypophosphatasia (HPP). We evaluated the safety profile of AA from the clinical trial program spanning pediatric and adult patients.Methods: Safety data were pooled from 4 open-label, multicenter studies in children aged ≤3 years (study 002/003 [NCT00744042/NCT01205152]; n=11) and ≤5 years (study 010-10 [NCT01176266]; <em...

There is increasing evidence for the key role of osteocytes in the regulation of bone remodeling. One of the main products of these cells, sclerostin, inhibits bone formation and may also stimulate bone resorption. To our knowledge, there are few data in prostate cancer (PC) patients especially in patients with hypogonadism related to androgen deprivation therapy (ADT). The aim of this study was to compare serum levels of sclerostin in ADT-treated and untreated PC patients wit...

Context: Variations in sex hormones influence bone health in men. Aging in men is associated with a decrease in testosterone (T) levels.Aims: To examine the relationship between T levels and changes in bone health status as measured by quantitative ultrasound (QUS) at the phalanges and the os calcis and by peripheral bone mineral density (pBMD) at the phalanges in healthy elderly Spanish men.Methods and material: We examined 162 me...

Objectives: We aimed to evaluate hospitalization rate of femoral neck fractures in the elderly Italian population over ten years.Methods: We analyzed national hospitalizations records collected at central level by Ministry of Health from 2000 to 2009. Age- and sex-specific rates of fractures occurred at femoral neck in people ≥65 years old. We performed a sub-analysis over a 3-year period (2007–2009), presenting data per five-year age groups, ...