Bone Abstracts

Introduction: Osteoporosis and fragility fractures are recognized complications of rheumatoid arthritis (RA). Previously Riches et al. described a patient with celiac disease and severe osteoporosis in whom neutralizing antibodies to osteoprotegerin (OPG) were present. The aim of this study was to determine if OPG autoantibodies were present in patients with RA and other rheumatic diseases and to relate these to clinical features.Methods: We dev...

Introduction: Osteogenesis imperfecta (OI) is characterized by low bone mass, skeletal fragility and, frequently, short stature. We previously showed in oim/oim mice that sclerostin inhibition increased bone mass, mineral content and strength. Here, we compared the body length and the sizes of long bones, head and vertebrae between oim/oim and wildtype mice and analyzed the effect of sclerostin antibody (Scl-Ab) on these parameters.Materials and methods:...

Background: Cannabinoid receptors are expressed in synovial joints but their role in joint disease is unknown. Here we examined the role of the type 2 cannabinoid receptor (CB2) in the pathogenesis of age-related osteoarthritis and osteoarthritis caused by destabilisation of the medial meniscus (DMM) in WT and CB2-deficient mice (Cnr2−/− mice).Methods: The severity of arthritis was graded histologically according to standard techni...

Objective: To assess the relationship between thyrotoxicosis and osteoporotic fractures in men and women.Design: Register-based cohort study in patients with a TSH measurement in the region of Funen 1996–2010. All determinations were done in the same lab serving all hospitals and GP practices. Persons with raised TSH or a history of thyroid/pituitary disease were not included.Results: The study population consisted of 222 138 ...

Osteoporosis pseudoglioma syndrome (OPPGS) is a rare autosomal recessive disorder characterised by congenital or juvenile-onset blindness, severe juvenile-onset osteoporosis, and skeletal fragility. OPPGS is caused by loss-of-function mutations in the LRP5 gene, a member of the LDL receptor family. It activates the canonical Wnt/β-catenin pathway, regulating osteoblastic bone formation. We investigated a 40-year-old Caucasian male presenting with congenital blind...

Osteoporosis and vertebral fractures are recognised complications of ankylosing spondylitis (AS) but the underlying causes are incompletely understood. Osteoprotegerin (OPG) is a decoy receptor for RANK-L and inhibits osteoclastogenesis. We have previously demonstrated that antibodies to OPG (OPG-Ab) are associated with osteoporosis and increased bone turnover in patients with autoimmune diseases. The aim of this study was to determine whether OPG-Abs were detectable in AS pat...

see P241....

Vertebral fractures are the most common complication of osteoporosis, but little is known about the genetic determinants of susceptibility. Here we present the results of a genome wide association study in 1553 postmenopausal women with clinical vertebral fractures and 4340 controls, with replication in 667 cases and 2105 controls. A locus tagged by a less frequent variant (rs10190845, A-allele MAF=0.05) was identified on chromosome 2q13 as a strong predictor of clinical verte...

Objective: Children with hypophosphatasia (HPP) treated with asfotase alfa in a Phase 2 study (NCT00952484) and its open-label extension (NCT01203826) experienced significant improvements in skeletal mineralization and physical function that were sustained through 5 years of treatment (1). Herein, we report data from these studies with a maximum of 7 years of treatment.Methods: Children with HPP aged 6–12 years at baseline received asfotase alfa (3 ...

Background: Mutations in the PLS3 gene, encoding plastin 3, cause X-linked osteoporosis. Osteoporosis is characterized by low bone mineral density (BMD) and increased susceptibility to fractures. Here we describe a 7-year-old boy with osteoporosis due to a novel PLS3 deletion.Presenting problem: The patient, born to non-consanguineous parents, had a history of one low-energy long-bone fracture, three vertebral fractures (T5, T6 T8) and kyphosis. DXA scan...