Bone Abstracts

Morbidity and mortality are associated with osteoporosis and sarcopenia. There are few data describing the associations between functional measures of muscle and bone. Therefore, the aim of this study was to examine the associations of muscle strength and tibial bone outcomes in ageing men.Men (n=301) aged 40–85 years were recruited in UK (201-White, 43-Black, 57-South-Asian). pQCT was performed at the 38 and 66% tibia with the outcome meas...

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 ...

The chronic use of glucocorticoids in patients with congenital adrenal hyperplasia (CAH) may result in decreased bone mass. Therefore, using simple and accurate methods for assessing bone status in these patients could facilitate the treatment of disease. The purpose of this study was to verify the association between parameters of bone mass measured by dual energy X-ray absorptiometry (DXA) and quantitative ultrasound (QUS) of proximal phalanges in children adolescents with c...

Aim: We present the case of a 36y female patient with multiple fragility fractures after the age of 21 and mutations in COL1A1, COL1A2 and GNAS genes.Material and methods: A 36y female patient with multiple fractures of the axial and appendicular skeleton was referred to us for consultation. The patient was born with hexadactyly of the left foot and had a history of mild thoracolumbar scoliosis (10°) and medium height (165 cm) with no other history ...

Introduction: Mitochondrial dysfunction is associated with several clinical outcomes including diabetes and myopathy and is implicated in the human aging process. We previously showed that the mitochondrial DNA point mutation mtDNA3243A>G is associated with lower BMD and altered bone structure. The aim of this study was to assess bone turnover markers in individuals with the mutation and controls.Methods: We recruited 45 patients (29 female, 16 male)...

Background: Osteogenesis imperfecta (OI) is a heterogeneous group of inherited disorders of bone formation, resulting in low bone mass and an increased propensity to fracture. It is a variable condition with a range of clinical severity. About 90% of patients with a clinical diagnosis of OI have a mutation in the COL1A1 or COL1A2 genes, which shows an autosomal dominant pattern (AD) of inheritance. Other genes are associated with the autosomal recessive (AR) ...

Objective: Idiopathic hypercalciuria (IH) is defined as excessive 24 h urinary calcium excretion (>4 mg/kg per 24 h), that persists after correction of dietary imbalances in the absence of secondary causes. Recent studies with DXA in children with IH provide evidence of decreased areal BMD. We used peripheral quantitative computed tomography (pQCT) of the tibia, to test the hypothesis that IH results in decreases of volumetric (mg/cm3) BMD of the trabecular and/...

Bisphosphonate treatment reduces fracture risk in women with postmenopausal osteoporosis. However, some patients have an inadequate response to treatment. Estradiol and sclerostin play an important role in bone metabolism. Sclerostin is an endogenous inhibitor of osteoblastic activity and estrogen deficiency increases osteoclast activity and bone resorption.We examined the influence of both measures on fracture incidence in postmenopausal osteoporosis in...

Abstract not submitted...

Background: Fracture incidence rate and growth according to different glucocorticoid (GC) regimen in Duchenne Muscular Dystrophy (DMD) is currently unknown.Objective: To determine the extent of skeletal morbidity and the influence of GC regimen on fracture incidence rate and growth in a contemporary cohort of DMD in the UK.Method: Clinical details of 832 boys with DMD in the North Star database (2006–2015) from 23 centres were...