Bone Abstracts

Objectives: Over the last several years, the Monofin has appeared with increasing regularity at swim practices throughout the world. Physical activity during childhood is advocated as one strategy for enhancing peak bone mass as a means to reduce osteoporosis. Clinical studies have found that non-impact sport like swimming are associated with normal to low bone densities. Little is known about the influence of monofin swimming during childhood on lumbar spine mass. This is a n...

Effective treatments are available to reduce fracture risk in patients with postmenopausal osteoporosis. Though factors have been identified that modify the effect of treatment with one or more the currently available drugs, as a rule patients will benefit more from treatment the higher their base risk of fracture. From a societal and clinical point of view it is surprising that many guidelines for postmenopausal osteoporosis do not target treatment to patients at the highest ...

In clinical studies, denosumab (DMAb) administration up to 8 years is associated with continued increases in bone mineral density (BMD) and low fracture incidence despite persistently low bone turnover markers and limited iliac crest tetracycline labelling (Papapoulos 2013). We tested the hypothesis that, with persistently low bone remodelling, BMD increases may result from a non-remodelling dependent mechanism to accrue bone matrix. We examined the fluorochrome labelling patt...

Proteoglycans is a component of extracellular matrix, forming a mesh around structural proteins including collagen and elastin, and providing elasticity to tissue structure. Proteoglycans is formed by the attachment of glycosaminoglycans to a core protein, a process that requires three enzymes: galactosyltransferase-1, galactosyltransferase-2 and glucoronosyltransferase-1, encoded by B4GALT7, B3GALT6 and B3GAT3 respectively. B3GALT6 mutation...

Objectives: Autosomal recessive osteopetrosis (OP) is a rare metabolic bone disease characterized by impaired osteoclast function resulting in defective bone resorption and generalized high bone mineral density (BMD). Excessive bone compromises bone marrow space, leading to marrow failure. The infantile malignant form is typically fatal within the first decade of life. The intermediate form presents later during childhood. Currently, the only potential curative therapy for OP ...

Background: Duchenne muscular dystrophy (DMD) is characterised by progressive muscle weakness leading to loss of mobility, cardiomyopathy, and respiratory insufficiency. Typical initial manifestation in boys (X-linked disorder) comprises proximal muscle weakness and calf hypertrophy. Osteogenesis imperfecta (OI) is a clinically heterogenous heritable connective tissue disorder with increased bone fragility. Fractures rise from little or no apparent trauma.<p class="abstext...

Background: Children with special needs may be greater risk of vitamin D deficiency due to decreased mobility and outdoor play, concomitant medications that increase catabolism of vitamin D, reduced nutritional intake and low body weight. Gastrostomy-fed children receiving a nutritionally complete formula may still be at risk of vitamin D deficiency due to the above factors.Objective: The objective of this study is to assess the vitamin D status of speci...

Objective: Hypophosphataemic rickets (HPR) is associated with high concentrations of fibroblast growth factor 23 (FGF23). Chronically elevated FGF23 may impact on cardiac function and the skeleton. There is little evidence on how FGF23 changes with time in HPR or how it is affected by treatment. The aim of this study was to evaluate changes in FGF23 concentrations over time in patients with HPR.Methods: Retrospective data was collected from our Metabolic...

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...

Background: Hyperphosphatemic familial tumoral calcinosis (HFTC) is characterized by hyperphosphatemia and the formation of tumor-like extra-osseous calcifications. Tumors often necessitate surgical management although medical treatment may limit the need for surgical intervention. We present two cases of HFTC successfully managed with combination acetazolamide (ACTZ) and sevelamer carbonate.Case Report #1: A 5-year-old African boy with a loss-of-functio...