Bone Abstracts

Fibrous dysplasia (FD) is a benign skeletal disease caused by activating mutations of Gsα. These mutations lead to formation of abnormal and mechanically unsound bone and fibrotic tissue. Clinical sequelae include deformity, fracture, and pain. Studies in bisphosphonates have shown improvement in bone pain and inconsistent effects on FD mineralization; however interpretation has been limited by a lack of controlled trials.Objecti...

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...

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...

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 ...

Background and methods: Pigment epithelium-derived factor (PEDF) is a potent antiangiogenic factor, ubiquitously expressed and secreted in human tissues. Hypertrophic cartilage and osteoblasts express PEDF that binds to type I collagen and glycosaminoglycans in the extracellular matrix. Two rare forms of osteogenesis imperfecta (OI) with intact collagen synthesis are associated with PEDF deficiency. Histological observations revealed excessive osteoid formation and prolonged m...

Dysosteosclerosis (DSS) is the rare osteopetrosis (OPT) distinguished by metaphyseal osteosclerosis with relative radiolucency of widened diaphyses and platyspondyly. In 2012, mutations in the SLC29A3 gene were discovered to cause DSS.Here, we report a new case of DSS presenting with severe anemia and having a unique homozygous mutation in SLC29A3.Our patient was the 3rd child of consanguineous Turkish parents. She present...

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Background: Vitamin D plays an important role in calcium and phosphate homeostasis. Circulating 25 hydroxyvitamin D [25(OH)D] is metabolised into its biologically active form 1,25-dihydroxyvitamin D [1,25-d(OH)D] by the actions of 1α hydroxylase, and into inactive 2metabolite 24,25-dihydroxyvitamin D [24,25-d(OH)D] by 24-hydroxylase. Recent studies suggest the production of 1,25-d(OH)D) from 25(OH)D is 24,25-d(OH)D dependent. Genetic mutations of CYP24A1 gene resulting in...

Background: The relation between sex hormone-binding globulin (SHBG) and vertebral fracture (VFx) is unclear.Aim: To examine whether SHBG is associated with bone mineral density at lumbar spine (LS-BMD), trabecular bone score (TBS) and prevalent VFx.Methods: Data of 6224 men and women participants in the third visit of the first cohort (I-3) and the first visit of the second cohort (II-1) of a prospective population based cohort, w...

Background: Fracture risk is increased in Type 2 diabetes (T2D) individuals. Bone mineral density (BMD) is inversely associated with fracture risk but paradoxically high in T2D individuals. Trabecular bone score (TBS) reflects bone microarchitecture and predicts fracture risk.Objective: We aimed to compare mean lumbar spine TBS (LS-TBS) and lumbar spine BMD (LS-BMD) values, across individuals with and without i) vertebral fracture (VFx), ii) T2D; and iii...