Searchable abstracts of presentations at key conferences on calcified tissues

ba0002p42 | (1) | ICCBH2013

The effect of glucocorticoids on bone indices in children with rheumatic and oncological conditions

Harrington Jennifer , Sochett Etienne , Grynpas Marc

Children with chronic medical conditions are at increased risk for bone fragility from multiple mechanisms, related both to the underlying condition and its treatment, in particular glucocorticoids. The differential effects of the underlying medical disease on bone micro-architecture have not been well elucidated.Objectives: To describe the bone micro-architectural characteristics in children with rheumatic and oncological disorders treated with glucocor...

ba0006p197 | (1) | ICCBH2017

Financial burden in families of children with osteogenesis imperfecta (OI)

Murphy Anne , Howard Andrew , Sochett Etienne , Harrington Jennifer

Background: Families of children with Osteogenesis Imperfecta (OI) make costly modifications to their home, lifestyle and employment and incur costs of rehabilitative, preventative and adaptive care for their child. While parents have readily identified that these costs are financially burdensome, the degree of financial burden has not yet been described in families of children with OI.Objectives: To evaluate the out of pocket, OI related expenses (ExpOI...

ba0007p90 | (1) | ICCBH2019

Osteogenesis imperfecta due to FKBP10 mutation- shift from high to low bone turnover

Lenherr-Taube Nina , Harrington Jennifer , Murphy Anne , Filipowski Kornelia , Kin On Wong Andy , Horward Andrew , Sochett Etienne

Background: Osteogenesis imperfecta (OI) due to FKBP10 mutation is a rare variant of OI. FKBP10 encodes for FKBP65, a molecular chaperon that interacts with type I procollagen to prevent premature fibril formation and plays a role in collagen crosslinking. Defects in FKBP65 result in a spectrum of moderate to severe OI with remarkable variability in phenotypes.Presenting problem: The patient is the first child of non-consanguineous Caucasian parents. She...

ba0004lb2 | (1) | ICCBH2015

Recessive osteogenesis imperfecta caused by missense mutations in SPARC

Mendoza Roberto , Fahiminiya Somayyeh , Majewski Jacek , Consortium Care4Rare Canada , Tetreault Martine , Nadaf Javad , Kannu Peter , Sochett Etienne , Howard Andrew , Stimec Jennifer , Dupuis Lucie , Roschger Paul , Klaushofer Klaus , Palomo Telma , Ouellet Jean , Al-Jallad Hadil , Mort John , Moffatt Pierre , Boudko Sergei , Bachinger Hans-Peter , Rauch Frank

Objectives: We sought to identify the disease-causing mutations in two unrelated girls with a clinical diagnosis of osteogenesis imperfecta type IV.Methods: Whole-exome sequencing and cellular studies in skin fibroblasts were conducted.Results: We identified two homozygous variants in SPARC (NM_003118.3; c.497G>A (p.Arg166His) in individual 1; c.787G>A (p.Glu263Lys) in individual 2). Secreted protein, acidic, cyste...