Searchable abstracts of presentations at key conferences on calcified tissues

ba0007p130 | (1) | ICCBH2019

Off label uses of pamidronate in rare pediatric bone diseases (Jansen's Metaphyseal Chondrodysplasia and Generalized Arterial Calcification of Infancy): A four year perspective

Young Kyleen , Langman Craig , Jueppner Harald

Background: Pamidronate is FDA approved only in adults. It is frequently used off-label in the treatment of pediatric bone diseases, such as osteogenesis imperfecta, juvenile osteoporosis, and osteopenia in nonambulatory patients with cerebral palsy. The use of pamidronate in these conditions is relatively common, but there may be more to be understood about its role in other rare pediatric bone diseases.Presenting problem: Jansen’s Metaphyseal Chon...

ba0006oc2 | (1) | ICCBH2017

Methylation patterns at the novel DMR of GNAS (GNAS-AS2) in pseudohypoparathyroidism 1B (PHP1B or iPPSD3) subtypes

Hanna Patrick , Rochtus Anne , Jueppner Harald , Mackay Deborah , Francou Bruno , Bouligand Jerome , Mantel Anne , Anagnostou Elli , Vlachopapadopoulou Elpis , Gaillard Dominique , Delemer Brigitte , Linglart Agnes

PHP1B -iPPSD3 per the new proposed classification- is a rare disorder characterized in most patients by proximal tubular resistance to PTH resulting in hypocalcemia, hyperphosphatemia and elevated PTH. Loss-of-methylation (LOM) at the Differentially Methylated Region (DMR) at GNAS exon A/B occurs in all PHP1B patients, but methylation changes at other DMRs within GNAS occur in some familial and most sporadic PHP1B cases. All patients with autosomal dominant PHP1B (AD-...