Bone Abstracts

Objective: Children with hypophosphatasia (HPP) treated with asfotase alfa in a Phase 2 study (NCT00952484) and its open-label extension (NCT01203826) experienced significant improvements in skeletal mineralization and physical function that were sustained through 5 years of treatment (1). Herein, we report data from these studies with a maximum of 7 years of treatment.Methods: Children with HPP aged 6–12 years at baseline received asfotase alfa (3 ...

For a reliable assessment of bone’s material quality in a clinical environment, a fast way to measure the mechanical properties of bone is needed. The investigation of material heterogeneity and anisotropy resulting from bone remodeling and mineralization requires an imaging technique with micrometer resolution. Scanning acoustic microscopy (SAM) using high-frequency lenses allows measuring the stiffness of bone under wet conditions in a non-destructive way with this spat...

see PP288....

Osteoblastic MMPs are important actors of bone remodeling. We showed previously that osteoblast specific overexpression of TIMP1, an inhibitor of MMPs, prevents the bone loss induced by ovariectomy mainly through inhibition of bone resorption. We hypothesized that inhibition of the MMP3 could be implicated in the protective effect of TIMP1 and that MMP3 polymorphisms located in the proximal promoter of MMP3 gene could be associated to post-menopausal bone loss in women.<p ...

Objectives: Hypophosphatasia (HPP) is a rare metabolic disease caused by loss-of-function mutation(s) in the gene encoding tissue-nonspecific alkaline phosphatase (TNSALP). HPP in infants is characterized by poor skeletal mineralization, respiratory compromise, and a high risk of mortality. We previously reported improved mineralization and respiratory function in 15 patients enrolled in this second study of asfotase alfa, a bone-targeted recombinant human TNSALP, in infants a...

Objective: There is no published data to demonstrate the efficacy and safety of a single bolus dose vitamin D in breastfed infants of vitamin D deficient mothers. We evaluated the efficacy and safety of this alternative approach in newborn infants <4 months of age.Method: This single centre study was conducted from Aug 2013 to May 2014. Of 307 pregnant women diagnosed with vitamin D deficiency (25OHD<50 nmol/l) 70 were recruited. Their newborn in...

The concept of the vicious cycle of bone metastases emphasizes the cross-talk between osteoclasts, osteoblasts and tumor cells, but the role of bone marrow stromal cells (BMSCs) is not well delineated. BMSCs comprise of a fibroblast-like cell population which adhere to culture flask and have an ability to differentiate into osteoblasts, adipocytes and chondrocytes. They express a panel of cell surface antigens which includes CD105, CD73, CD90, CD106, and CD146. In this study w...

Objectives: Hypophosphatasia (HPP) is a rare, inherited metabolic disorder caused by loss-of-function mutations in the ALPL gene that encodes the tissue-nonspecific alkaline phosphatase TNAP (ORPHA 436). Its clinical presentation is highly heterogeneous with a remarkably wide-ranging severity. HPP affects patients of all age. Therefor diagnosis is often difficult and delayed. To improve the understanding of HPP in children and in order to shorten the diagnostic time span in th...

Objectives: Chronic non-bacterial osteomyelitis (CNO) is an inflammatory, non-bacterial disorder of the skeletal system of yet unknown etiology (ORPHA 324964). CNO predominantly affects the metaphyses of long bones, but lesions can occur at any sites of the skeleton. Patients present with local bone pain and inflammation and - to our experience - often suffer from functional impairment with significant disabilities of daily life. The objective of this study was to assess physi...

Introduction: Whilst it is well-established that sedentary behaviour may increase the risk of paediatric obesity, and potentially result in early onset cardio-metabolic diseases such as type 2 diabetes and cardiovascular disease, there is less consensus about the potential detrimental effects that long-term sedentary behaviour may have on bone health during childhood.Purpose: To determine if long-term sedentary behaviour affects accrual of bone mass, str...