Bone Abstracts

Background: Hyperphosphatemic familial tumoral calcinosis (HFTC)/hyperostosis-hyperphosphatemia syndrome (HHS) is an autosomal recessive disorder due to deficiency of or resistance to intact fibroblast growth factor 23 (FGF23). This leads to hyperphosphatemia, increased renal reabsorption of phosphorus (TRP), and elevated or inappropriately normal 1,25-dihydroxyvitamin D (1,25D). Affected individuals may develop ectopic calcifications and/or diaphyseal hyperostosis. Mutations ...

Biographical DetailsDr Mary Leonard, MD, MSCE is a Professor of Paediatrics and Epidemiology at the Perlman School of Medicine at the University of Pennsylvania, and the Director of the Office of Clinical and Translational Research at the Children’s Hospital of Philadelphia. Her multidisciplinary research program is focused on the assessment of bone health in children, and the detrim...

Objectives: Hypophosphatasia (HPP) is a rare metabolic disease caused by loss-of-function mutation(s) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene. Resultant low TNSALP leads to defective skeletal mineralization and diverse complications that may include poor growth, proximal muscle weakness, pain, and compromised physical function in children. Here, we describe the burden of HPP in patients <18 years old as assessed by two surveys specific to HPP symptomol...

Objectives: Bisphosphonates are frequently used in children with skeletal disorders, however optimal dosing and regimens are unknown. Early treatment focused on pamidronate (PAM), a second-generation formulation, however use of zoledronate (ZOL), a more potent third-generation bisphosphonate, has recently increased due to shorter and less frequent infusions. The objective of this study is to compare short-term safety of ZOL and PAM in a pediatric population.<p class="abste...

Skeletal development is characterized by sex-, race- and maturation-specific increases in bone strength. Studies using conventional QCT in the spine and femur, and peripheral QCT (pQCT) in the extremities provided insight into differences in compartment volumetric BMD (vBMD) and cortical dimensions but were limited by inadequate resolution to assess microarchitecture. For example, pQCT studies demonstrated that cortical vBMD was greater in females, while cortical section modul...

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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...

see PP59....

Mammalian target of rapamycin (mTOR) is a serine–threonine kinase that plays a central role in a number of key cellular pathways that have been previously implicated in bone formation. mTOR mediates these diverse roles by forming two multi-protein complexes, mTORC1 and mTORC2, each of which is defined by unique proteins raptor and rictor respectively.Studies from our laboratory have previously demonstrated that inhibition of mTORC1 increases the ost...