Bone Abstracts

Aim: Osteoporosis and resulting spontaneous fractures in young patients with neurological impairments living outside institutions have not received much attention. The aim of this study was to determine the degree of demineralization in children and teens with such disabilities living in South Lebanon, an under privileged region.Subjects and methods: We reviewed 40 patients attending outpatient clinics in a referral rehabilitation center in South Lebanon...

Objective: To assess the relationship between thyrotoxicosis and osteoporotic fractures in men and women.Design: Register-based cohort study in patients with a TSH measurement in the region of Funen 1996–2010. All determinations were done in the same lab serving all hospitals and GP practices. Persons with raised TSH or a history of thyroid/pituitary disease were not included.Results: The study population consisted of 222 138 ...

Osteoporosis pseudoglioma syndrome (OPPGS) is a rare autosomal recessive disorder characterised by congenital or juvenile-onset blindness, severe juvenile-onset osteoporosis, and skeletal fragility. OPPGS is caused by loss-of-function mutations in the LRP5 gene, a member of the LDL receptor family. It activates the canonical Wnt/β-catenin pathway, regulating osteoblastic bone formation. We investigated a 40-year-old Caucasian male presenting with congenital blind...

Postmenopausal women with forearm fracture have higher cortical porosity and lower trabecular density perhaps due to excessive age-related bone loss1. Remodelling becomes unbalanced and rapid only after ~45 years of age. We therefore proposed that bone fragility in premenopausal women with a forearm fracture originates during growth. At metaphyses, trabeculae emerging from the periphery of the growth plate form cortex by ‘corticalization’)2. We ...

We have shown that the bisphosphonate pamidronate (P) given to children <10d post-burn prevents resorptive bone loss and muscle protein breakdown. We have also shown in vitro that Ca modulates the inflammatory response by altering mononuclear cell chemokine production. We hypothesized that P affects muscle protein breakdown by altering cytokine or chemokine concentration directly or indirectly by lowering blood ionized (i) Ca. We retrospectively analysed biomarker...

Objective: The significance of low alkaline phosphatase (ALP) is often not recognised by clinicians. It is the hallmark of hypophosphatasia and this oversight leads to delays in diagnosis, inappropriate treatment and potentially harm. Using the standard that an abnormal result should be recognised by the clinician and the potential cause and need for further investigation documented in the medical records we conducted an audit of our practice at the Royal National Orthopaedic ...

Background: Mutations in SATB2 have been described in association with a unique phenotype known as SATB2-associated syndrome (SAS). This condition is characterised by severe intellectual disability affecting speech development, behaviour, facial features and dental anomalies. Skeletal features and osteoporosis have been reported in older individuals (aged 15–36), in association with point mutations. We report a 24-year-old man with a SATB2 misse...

Background: Camurati-Engelmann disease (CED) is a rare bone dysplasia characterised by hyperostosis and sclerosis of the diaphyses of the long bones and skull. It is caused by autosomal dominant gain-of function mutations within TGFB1, which result in increased activity of transforming growth factor β1 (TGF-β1). It typically presents in mid-childhood with bone pain, myopathy and progressive immobility. Evidence for treatment is based on a number of case repo...

Introduction: Whilst it is well-established that sedentary behaviour may increase the risk of paediatric obesity, and potentially result in early onset cardio-metabolic diseases such as type 2 diabetes and cardiovascular disease, there is less consensus about the potential detrimental effects that long-term sedentary behaviour may have on bone health during childhood.Purpose: To determine if long-term sedentary behaviour affects accrual of bone mass, str...

Objectives: To assess the effects of short-term vitamin D supplementation on bone metabolism, glycaemic status and immune function in vitamin D deficient children.Method: Treatment with daily 5000 IU cholecalciferol supplementation for 6 weeks. At baseline and end of treatment serum 25 hydroxyvitamin D (25(OH)D), parathyroid hormone (PTH), alkaline phosphatase (ALP), serum collagen type 1 cross-linked C-telopeptide (CTX), serum calcium, HbA1c, sex hormon...