Bone Abstracts

Steroids are currently used to improve muscle strength and prolong ambulation in boys with Duchenne muscular dystrophy (DMD) although the effect on bone health is still unclear. The aim of this study was to compare bone strength in healthy children and boys with DMD and investigate the interaction between diminished muscle function, loss of ambulation and high dose oral steroids.Fifty children were studied, 14 healthy boys (HB), 13 boys with DMD who rema...

Objectives: Hypophosphatasia (HPP) is the rare inherited metabolic disease caused by low tissue nonspecific alkaline phosphatase activity. HPP manifests a wide spectrum of complications, which may include HPP-related rickets and compromised physical function in children.Methods: We report on clinical gait assessments based on archival video recordings of six children with onset of HPP symptoms at ≧6 months and documented HPP-related skeletal abnor...

Cherubism is a rare genetic disorder characterized by extensive growth of a bilateral granuloma of the jaws, resulting in facial disfigurement.Histologically, the lesions consist of a fibrotic stroma with osteoclastic-like multinuclear giant cells (MGC). Cherubism is caused by gain-of-function mutations in the SH3BP2 protein. SH3BP2 is an intracellular adaptor protein positively regulating the activity of the nuclear factor of activated T-cells c1 (NFATc...

Introduction: Vitamin D deficiency has been associated with impaired physical functioning and several chronic diseases and might thereby affect quality of life and self-rated health. The aim of this study was to assess relationships of serum 25-hydroxyvitamin D (25(OH)D) with quality of life and self-rated health, and to examine whether physical performance and number of chronic diseases mediate these relationships.Methods: Data were obtained from the LA...

Introduction: Cardiovascular disease and osteoporosis have often been reported to coexist in older people. However, the literature is conflicting regarding size and indeed direction of the association. The aim of the present study was therefore to assess associations between the Framingham general cardiovascular risk score and bone characteristics in a cohort of older adults.Methods: We studied 374 men and 379 women, born 1931–1939, who participated...

Introduction: Measures of physical function may be related to osteoporosis and fractures in older individuals and may thus be used in the identification of individuals at high fracture risk.Aim: The aim of this study was to investigate which measures of physical functioning are associated with bone quality and fracture incidence and whether gender-specific differences exist within these associations.Methods: We studied 1486 partici...

Fracture outpatient (FO) clinics aim to identify individuals at high fracture risk. Identification of individuals at high fracture risk has been improved since the introduction of vertebral fracture assessment (VFA). Unfortunately, participation rates in FO clinics are often low.The aim of this study is to i) assess the contributory value of VFA in addition to BMD measurements in identifying individuals with high fracture risk; ii) assess characteristics...

Hypophosphatemic rickets (HR) is a type of bone disorder that causes skeletal deformities due to reduced renal phosphate reabsorption that affect bone mineralisation. Defect on PHEX, DMP1 and FGF23 causes x-linked dominant, autosomal recessive and autosomal dominant HR respectively. The aim of this study was to identify the underlying genetic mutations in PHEX, DMP1 and FGF23 in a 15-year-old female who exhibits the clinica...

Introduction: Lower bone mineral content (BMC) has been reported in HIV-infected children, as well as those on ritonavir-boosted lopinavir (LPV/r)-based antiretroviral therapy (ART). Older studies of children with HIV report increased bone resorption, but data with current antiretroviral regimens are limited.Methods: This analysis presents data from the CHANGES Bone Study (Johannesburg, South Africa). Whole body (WB) BMC was assessed by dual-energy X-ray...

Brittle bones have been reported in children, adolescents and adults with cystic fibrosis (CF), independently of sex; this has been termed CF-related bone disease. In CF patients with the F508del mutation in the (Cftr) gene, vertebral fractures and the subsequent dorsal kyphosis decrease pulmonary function, thus accelerating the course of the disease. Mice with the homozygous F508del mutation in CFTR develop a severe osteopenic phenotype early on, in both sexes (Le He...