Bone Abstracts

: Congenital limb abnormalities represent a prevalence of 0.79/1000 of live births in Massachusetts1. A better understanding of their physiopathology could improve the management of the patients. We report on a 23 weeks female fetus affected by an isolated bilateral terminal transverse defect of the lower limbs with nubbins. Both familial history and chromosomal analyses were irrelevant. We performed a deep morphological examination of the fetus in comparison with a...

Background: Low vitamin D concentrations among children and adolescents at northern latitudes are frequently observed. Also, inverse associations between 25-hydroxyvitamin D (25(OH)D) and PTH concentrations have been found in children of different ages. More studies on the link between vitamin D status and childhood bone health are needed.Objective: To evaluate the status of serum 25(OH)D in autumn and the association between 25(OH)D concentrations and b...

Background: Progressive osseous heteroplasia (POH) (OMIM 166350) is a rare autosomal dominant condition, characterized by heterotopic ossification of the skin, subcutaneous fat and deep connective tissue. This condition is distinct from Albright’s hereditary osteodystrophy or Mccune–Albright syndrome (AHO) (OMIM 103580) and fibrodysplasia ossificans progressiva (FOP) (OMIM 135100).Presenting problem: We present an unu...

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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 ...

Peripheral computed tomography (pQCT) can estimate volumetric bone mineral density (vBMD) and distinguish trabecular from cortical bone. Few comprehensive studies have examined correlates of vBMD in Spanish premenopausal women.The aim was to study the association between bone microarchitecture, muscle mass and strength in premenopausal Spanish women and to evaluate the role of calcium intake. vBMD was assessed in 164 premenopausal women at the distal rad...

Bone strength is influenced by cortical thickness, area, mass and porosity, all of which contribute to nonvertebral fracture risk. Cortical porosity is one parameter of structural decay associated with bone fragility. This is caused by unbalanced and accelerated remodelling of Haversian units which enlarge, coalesce and fragment the cortex. Antiresorptive therapies will limit progression of cortical porosity; reducing existing porosity would be a goal for those already at incr...

Patients with osteoporosis require treatment with therapies that reduce the risk of fracture which at the spine is significantly influenced by bone microarchitecture. Quantitative computed tomography (QCT) and dual X-ray absorptiometry (DXA) allow measurement of bone mineral density (BMD), a known indicator of fracture risk. Trabecular bone score (TBS) is a novel gray-level measurement derived from spine DXA image texture that is related to microarchitecture and associates wit...