Searchable abstracts of presentations at key conferences on calcified tissues

ba0005p415 | Osteoporosis: treatment | ECTS2016

rs72658163, a new heterozygous variant in COL1A2 associated with atypical femoral fracture

Funck-Brentano Thomas , Ostertag Agnes , Debiais Francoise , Fardellone Patrice , Collet Corinne , Mornet Etienne , Cohen-Solal Martine

Atypical femoral fractures (AFF) of the subtrochanteric region are rare. Bisphosphonates account to a large extent to their occurrence, however AFF also occur without exposure to bone medication. We here assessed the genetic factors associated with AFF among subtrochanteric fractures. Cases of subtrochanteric or femoral shaft fractures were identified through ICD-10 codes in three French academic centers from 2007 to 2010. Medical records were analyzed by two investigators tha...

ba0004p154 | (1) | ICCBH2015

A longitudinal, prospective, long-term registry of patients with hypophosphatasia

Kishnani Priya , Langman Craig , Linglart Agnes , Mornet Etienne , Ozono Keiichi , Rockman-Greenberg Cheryl , Seefried Lothar , Bedrosian Camille , Fujita Kenji , Cole Alex , Hogler Wolfgang

Objective: Hypophosphatasia (HPP) is a rare, inherited metabolic disease characterized by bone mineralization defects and osteomalacia, as well as systemic manifestations, including seizures, respiratory insufficiency, muscle weakness, nephrocalcinosis, and pain. The biochemical hallmark of HPP is low serum alkaline phosphatase, resulting from loss-of-function mutations in the gene encoding tissue non-specific alkaline phosphatase. HPP presents a broad spectrum of disease seve...

ba0007lb5 | (1) | ICCBH2019

Chronic recurrent multifocal osteomyelitis in children with hypophosphatasia explained by anti-inflammatory nucleotidase activity of tissue nonspecific alkaline phosphatase in mesenchymal and hematopoietic cells

Bessueille Laurence , Briolay Anne , Como Juna , Mansouri Cylia , Gleizes Marie , El Jamal Alaeddine , Buchet Rene , Dumontet Charles , Matera Eva-Laure , Mornet Etienne , Millan Jose Luis , Fonta Caroline , Magne David

Deficiency in tissue nonspecific alkaline phosphatase (TNAP) causes hypophosphatasia (HPP), which is mainly characterized by skeletal hypomineralization. TNAP promotes mineralization by dephosphorylating the mineralization inhibitor inorganic pyrophosphate (PPi), which is generated from adenosine triphosphate (ATP) by ectonucleotide pyrophosphatase phosphodiesterase 1 (NPP1). Chronic recurrent multifocal osteomyelitis (CRMO), a sterile bone auto-inflammatory disease, has been ...