Bone Abstracts

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...

Introduction: In spite of the frequent encounter of ‘asymptomatic’ primary hyperparathyroidism (PHPT), the patients often describe various relevant improvements postoperatively suggesting a subclinical biological effect of elevated PTH or hypercalcaemia.Materials and methods: To evaluate muscle function, postural stability, and quality of life (QoL) in untreated PHPT, we assessed maximal isometric muscle strength in upper and lower extremities,...

Background and Objectives: The relations among cortical volumetric bone mineral density (CortBMD) and comprehensive measures of mineral metabolism have not been addressed in chronic kidney disease (CKD). The aim was to identify determinants of CortBMD in childhood CKD. A secondary objective was to assess if CortBMD was associated with subsequent fracture.Design/participants: This prospective cohort study in children, adolescents and young adults (ages 5&...

Poor bone mineralization remains a major health problem in patients with Thal and has been linked to functional zinc deficiency despite adequate dietary intake. The global etiology of poor bone mineralization includes inadequate dietary intake of calcium and vitamin D, endocrinopathies leading to disturbed calcium homeostasis, dysregulation of the GH–IGF1 axis, and delayed puberty, all resulting in limited growth, decreased bone formation and increased bone resorption. Th...

Context: An increase in bone marrow adiposity (BMA) is usually described in anorexia nervosa (AN) patients and in calorie restriction models. This induced BMA could be involved in the development of the osteoporosis often described in AN. However, BMA increase is not always observed and could be depending on the severity of the deficit.We previously developed the separation-based anorexia mouse model (SBA)1 (Ethical approval CEEA #022012). SBA...

Introduction: Langerhans cell histiocytosis (LCH) is a monoclonal disorder characterized by proliferation and accumulation of atypical Langerhans cells. Bone involvement is particularly destructive and to date, no standard of care exists. Bisphosphonates are osteoclast inhibitors that could target the multinucleated giant cells within the LCH lesions and might be used to alleviate bone pain and the progression of disease.Objective: To evaluate the effica...

Background: X-linked hypophosphatemic rickets (XLHR) represents the most common form of hypophosphatemia.Aim: The aim of this prospective study was to describe and analyze the incidence of cranial and cervico-occipital junction (COJ) anomalies in a series of children with XLHR.Patients and methods: Seventeen children (13 girls, 4 boys, mean age 7.3 years) followed for XLHR at the French national reference center for rare diseases o...

Background: Osteoporosis is common in subjects with Duchenne muscular dystrophy (DMD). Studies in paediatric DMD identified a high frequency of fragility fractures but there are no studies in the adult population. Recent updated international standards of care (2018) for children and adults with DMD recommend the following for bone monitoring:- Lateral thoracolumbar spine x-rays to screen for vertebral fracture (1–2 yearly if on glucocorticoid; 2&#1...

Mutations in the PHEX gene cause X-linked familial hypophosphatemic rickets (XLH) with severe bone (osteomalacia) and tooth abnormalities being the distinguishing features of this disease. The PHEX mutations lead to an increase in ASARM peptides (acidic serine- and aspartate-rich motif) and osteopontin fragments which inhibit bone extracellular matrix mineralization. MEPE-derived ASARM has been shown to accumulate in tooth dentin of patients with XLH where it may impair dentin...

Odanacatib (ODN), a selective oral inhibitor of cathepsin K, is in development for the treatment of osteoporosis. In the Phase 3, Long-Term ODN Fracture Trial (LOFT; NCT00529373), ODN significantly reduced fracture risk. This imaging sub-study primarily investigated the effect of ODN on volumetric BMD (vBMD) of the lumbar spine (LS) and total hip (TH) using quantitative computed tomography (QCT).Women aged ≥65 without baseline radiographic vertebra...