Bone Abstracts

Prolyl hydroxylase 2 (PHD2) regulates hypoxia-inducible factor α (HIFα) transcription factors and thus, erythropoietin (EPO) production. Under normoxic conditions, HIFα is constantly inactivated through hydroxylation by PHD2. Due to the embryonic lethality of PHD2 knock-out mice, its precise role in erythropoiesis and tissue homeostasis has long remained unknown. Recently, we generated a conditional knock-out (cKO) mouse lacking PHD2 in EPO-producing cells. Thes...

Objectives: Progressive heterotopic ossification in fibrodysplasia ossificans progressiva (FOP; OMIM #135100) begins in childhood and leads to irreversible restriction of movement, functional impairment, and shortened life-span. Baseline data from an on-going, global, 3-year, natural history study (NHS) describe FOP disease characteristics, and retrospective flare-up history, causes/symptoms, and outcomes.Methods: Data from 101 subjects (recruited from 2...

Objective: FOP is a rare, severely disabling disease characterized by episodic flare-ups and accumulation of heterotopic ossification (HO) leading to restricted movement, physical disability, and early death. Data from two Phase 2 interventional studies and one natural history study (NHS) were used to evaluate whether palovarotene could reduce HO following an FOP flare-up.Methods: HO volume at the flare-up site was determined by CT at baseline and 12 wee...

The main cause of the bone destruction in rheumatoid arthritis (RA) is a destructive act of aggressively growing pannus, growth and angiogenesis of which are caused by the proliferation of fibroblasts in the synovium (S) due to the activation of fibroblast growth factor (FGF).Objectives: To reveal relationships of FGF with ultrasonic and arthroscopic and proliferative-destructive histological figures in RA.Methods: Complete compreh...

Patients with chronic inflammatory diseases such as psoriasis are at high risk for developing osteoporosis. Psoriatic arthritis patients exhibit bone loss caused by increased bone resorption through activation of osteoclasts. However, it is not clear whether psoriasis can lead to bone loss in the absence of arthritis. Using mouse models with skin inflammation as well as psoriasis patient samples, we show that increased circulating IL-17A from the inflamed skin triggers bone lo...

Low fracture (FX) incidence has been demonstrated in women with postmenopausal osteoporosis (PMO) treated with DMAb for up to 10 years in the FREEDOM extension [Bone ASBMR 2015]. Bone biopsy-based assessment of DMAb’s effects at the tissue level has demonstrated a low remodelling rate consistent with DMAb’s mechanism of action (Reid JBMR 2010; Brown JBMR 2014). From FREEDOM, we report the effects of DMAb on bone matrix mineralization in women who un...

Introduction: Hereditary multiple osteochondromas (HMO) is characterized by the outward growth of cartilage-capped bone tumors. Osteochondromas contain a bone marrow cavity continuous with the normal bone cavity. Because of their off-axis position, osteochondromas are expected to carry less load than normal bone tissue. According to Wolff’s law, we therefore hypothesized that osteochondromas would have a less developed, osteoporotic-like microstructure. To test this hypot...

Childhood cancer has become curable in the majority (>70%) of patients. This is mainly due to rising intensity of treatment, including (combinations of) surgery, chemotherapy, radiotherapy and stem cell transplantation. In addition, intensive international collaboration for rare subgroups, enhanced stratification for treatment regimens and optimised supportive care has contributed to the improved survival of pediatric cancer that was accomplished over the last decades....

Background: Bone marrow (BM) adiposity is inversely related to bone mineral density and increases with ageing and menopause. We previously observed that the variation in BM fat fraction was more pronounced in premenopausal women compared to men and postmenopausal women. We hypothesized that the variation in BM fat fraction in premenopausal women is associated with hormonal variations during the menstrual cycle.Objective: To investigate the dynamic change...

Objective: Evaluate the clinical characteristics of all Latin American pediatric patients with Gaucher disease type 1 (GD1) enrolled in the ICGG Gaucher Registry at baseline and investigate long-term outcomes and clinical benefit of prolonged imiglucerase/alglucerase therapy in patients with manifestations of GD1 at baseline.Methods: All Latin American patients with GD1 in the ICGG Gaucher Registry (NCT00358943) who were <18 years of age at the start...