Bone Abstracts

Osteogenesis imperfecta (OI) type V is caused by a unique dominant mutation (c.−14C>T) in IFITM5, which encodes BRIL, a transmembrane ifitm-like protein most strongly expressed in osteoblasts, while type VI OI is caused by recessive null mutations in SERPINF1, encoding pigment epithelium-derived factor (PEDF). We identified a 25-year-old woman with severe OI, whose dermal fibroblasts and cultured osteoblasts displayed minimal secretion of PEDF, but ...

Bone accrual and the attainment of peak bone mass influence an individual’s predisposition to fracture or osteoporosis later in life. The developmental tempo and the movement of the periosteal and endosteal surfaces of the appendicular skeleton during growth result in variations in bone mineral content and density. During puberty the differential in peak height and peak bone mass accretion negatively influence bone strength. A surrogate measure of bone strength is the met...

Objective: The BoneXpert method for automated bone age determination from hand X-rays also determines the cortical thickness T and the bone width W in the three middle metacarpals. From these, the method derives the cortical area A=π W T (1 – T/W), the metacarpal index MCI =A/(WW) and the Bone Health Index. Recently, the method has been extended down to new-borns, and the aim of this study is to report reference curves for these bone measures.M...

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...

Differences in fracture rates and bone mass in families and individuals of different ethnic origins may be due to differing lifestyles and/or genetic backgrounds. This study aimed to assess the associations of bone mass and fracture prevalence in adolescents with maternal bone mass and fracture history, and sibling fracture history.Data from 1389 adolescent-biological mother pairs from the Birth to Twenty (Bt20) longitudinal study were obtained. Question...

Only minor literature on histopathologic changes in Blount’s disease is available. This study presents the histologic findings of biopsies harvested from the medial and lateral part of the proximal tibia during the W/M serrated osteotomy in patients with infantile Blount’s disease, performed in Ghana. In this study it is hypothesized that the medial metaphyseal area in these children will present a different histological morphology compared to the lateral metaphyseal...

Osteogenesis imperfecta (OI) type VI is caused by recessive null mutations in SERPINF1, encoding pigment epithelium-derived factor (PEDF), an anti-angiogenic secretory glycoprotein. Dominant mutations in IFITM5, encoding BRIL (Bone Restricted Ifitm-Like), a transmembrane protein upregulated in osteoblasts during mineralization, cause either type V OI (c.-14C>T, addition of 5 amino acids on BRIL) or atypical type VI OI (...

Background: Magnetic resonance imaging (MRI) is used clinically to assess bone marrow, muscle and joints. The assessment of cortical and trabecular structure using MRI may provide further insight into the muscle–bone–bone marrow unit. Previous studies using MRI to evaluate microarchitecture are confined to research due to the need for specially adapted coils and navigator software to limit motion artifact. We present a novel statistical method using HRpQCT to determi...

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) ...

Biographical DetailsLaurence Legeai-Mallet is currently Director of Research at Imagine Institute-Paris Descartes University. She received her PhD in genetic from University of Paris V, she is a member of International skeletal dysplasia Society, European Skeletal Dysplasia Network and the French reference center of bone dysplasias. She has been involved in the field of skeletal disease s...