Bone Abstracts

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...

Background: Zoledronic acid (ZA) is associated with a transient post-infusional acute phase reaction (APR) due to the activation of γδTCR lymphocytes (γδTcells).Aims: To investigate if APR correlates with γδTcell percentage or cytokine polarization, or with 25-OH vitamin D levels; to identify a 25-OH vitamin D level associated with a lower risk of APR.Methods: Sera for ELISA test (IFNγ, IL17, and ...

Cases of non-vitamin D deficiency rickets have been reported in African countries including The Gambia, South Africa and Nigeria where the likely aetiology is a chronically low dietary calcium intake. Additional aetiological factors in Gambian studies are iron deficiency leading to a disruption in phosphate metabolism.Surgical correction of pathological rickets-like lower-limb deformities is the most common operation performed at the Beit Cure Orthopaedi...

Fibroblast growth factor-23 (FGF23) is a bone derived phosphate-regulating hormone which is elevated in hypophosphataemic rickets. Recent findings demonstrate iron deficiency as a potential mediator of FGF23 expression and murine studies have shown in utero effects of maternal iron deficiency leading to increased FGF23 concentration and disordered bone development (Clinkenbeard. JBMR 2013). Children with rickets in rural Gambia, West Africa, have high prevalences of i...

Background: Skull development is a tightly regulated process that occurs along the osteogenic interfaces of the cranial sutures that allow rapid bone formation at the edges of the bone fronts. Premature closure of cranial sutures can result in pathological conditions such as Craniosynostosis. The mechanosensory proteins Polycystin 1 (PC1) and 2 (PC2) have been shown to regulate skeletal development and potentially suture formation.Aim: The aim of study w...

Objective: To evaluate safety and efficacy after 5 years of treatment with asfotase alfa in adolescents and adults with hypophosphatasia (HPP) in a Phase 2, open-label, randomized, dose-ranging study (NCT01163149).Methods: Treatment with subcutaneous asfotase alfa 0.3 or 0.5 mg/kg per d was compared with no treatment (control) for 6 months in patients aged 13–66 years. After 6 months, all patients (treatment and control groups) received active treat...

Background: Severe vitamin D deficiency (VDD), is a common disorder, which has complications including rickets, hypocalcaemia, hypotonia, delayed development and cardiomyopathy. Although nutritional rickets associated craniosynostosis has been reported, there is little awareness of this or knowledge about its clinical course or severity. We present five cases of late onset craniosynostosis in association with nutritional rickets.Clinical presentation: Th...

Short stature and osteoporosis are common in DMD. Disease progression can be slowed by glucocorticoids but these are associated with further growth retardation and skeletal fragility. The defect in growth and skeletal development in children with DMD is probably multifactorial and not solely dependent on glucocorticoid exposure. The muscular dystrophy x-linked (mdx) mouse is the most commonly used animal model of DMD. However, its growth phenotype has not been studied...

Objectives: Respiratory and Ear, Nose and Throat (ENT) complications are commonly reported in children with achondroplasia but little data is available regarding prevalence and outcome. In an unselected cohort of children with achondroplasia, we studied the prevalence of:•Abnormal cardiorespiratory sleep studies•Speech and hearing impairment</ce:p...