Bone Abstracts

Molecules secreted by the osteoclast or ‘clastokynes’ are essential to stimulate bone formation by osteoblasts. Treatments with bisphosphates and Denosumab target osteoclast survival and differentiation. This suppresses bone turnover and is suspected to increase the risk of atypical fractures in the long term. A solution to overcome this is to develop strategies that target selectively the activity of osteoclasts without affecting their survival or differentiation. S...

Background: The prevalence and severity of Paget’s disease of bone (PDB) have fallen over recent years but it is unclear if this has impacted on disease presentation. Here we evaluated the presentation of PDB in a contemporary cohort and conducted a systematic review of MEDLINE on the mode of presentation.Methods: The presenting features of PDB were recorded in 87 patients who had presented to a specialist clinic between 2005 and 2013. The systemati...

Poor vitamin K intake is associated with markedly increased cardiovascular risk and mortality. The molecular mechanism underlying this association is suggested to be the vitamin K-dependent carboxylation of vascular matrix Gla-protein (MGP), a potent calcification inhibitor. The carboxylation step is essential for its activation, and uncarboxylated MGP, produced during poor vitamin K status, is inactive.The IDS-iSYS inaKtiv MGP assay is the auto...

Since 1997, GH therapy has been approved for skeletal disorders including ACH and HCH patients in Japan. The efficacy of GH therapy for short period has been reported in several study. However, few study about efficacy and safety of GH therapy for long term have been shown. The aim of our study is to examine that GH therapy for HCH patients is efficient and safe enough and improve final height and proportion.18HCH patients (11 males and seven females) wh...

Background: Systemic alterations in Runx2 expression have been shown to affect flat and long bone formation differently: Inactivating mutations cause low-turnover bone disease and patent fontanels in cleidocranial dysplasia, while overexpressing mutations cause metaphyseal dysplasia with maxillary hypoplasia and brachydactyly. The two conditions have inverse skeletal phenotypes. We know of no descriptions of these disorders in a patient without duplications or mutations of Run...

Although the baby growing in its mother’s womb needs calcium for skeletal development osteoporosis and fractures very rarely occur during pregnancy. Pregnancy- and lactation-associated osteoporosis with the occurrence of fragility fractures mainly of the vertebral bodies was first described as a syndrome Nordin et al. in 1955. It is most commonly observed in the third trimester or early post-partum in women presenting with severe and prolonged back pain and somet...

Fibrous dysplasia of bone (FD) is a rare bone disease affecting one or several bones, due to a somatic mutation of GNAS responsible for abnormal differentiation of the osteoblastic cell lineage. The bone lesions may be associated with bone pain, fracture, deformity and neurologic compression. McCune-Albright syndrome is an association of FD, endocrine complications - mainly peripheral precocious puberty - and café-au-lait cutaneous spots.The mutated...

Osteoclasts are highly specialized cell types, responsible for the resorption of bone matrix. Coordinated with osteoblasts they contribute to a proper bone turnover. An impaired or reduced function of the osteoclast leads to a pathogenic increase of the bone mass and finally osteopetrosis. Lysosomal hydrolases, as exemplied by CTSK and Acp5 (TRAP), are known to play an important role in the function of osteoclasts, and knockout mouse models of these proteins develop a bone res...

Vertebral fractures are the most common complication of osteoporosis, but little is known about the genetic determinants of susceptibility. Here we present the results of a genome wide association study in 1553 postmenopausal women with clinical vertebral fractures and 4340 controls, with replication in 667 cases and 2105 controls. A locus tagged by a less frequent variant (rs10190845, A-allele MAF=0.05) was identified on chromosome 2q13 as a strong predictor of clinical verte...

Acrofrontofacionasal Dysostosis type 1 (AFFND1) is a rare human syndrome (estimated prevalence lower than 1:1,000,000), characterized by bone abnormalities in addition to other multiple congenital anomalies and intellectual disability. Only four AFFND1 families, three of Brazilian and one of Indian origin, have been described so far and an autosomal recessive pattern of inheritance has been suggested. The patients are severely affected: the main clinical features are intellect...