Bone Abstracts

Bisphosphonates (BPs) such as zoledronic acid (ZA) are widely used to treat bone diseases. The use of BPs can lead to osteonecrosis of the jaw (ONJ), but it is not clear why in particular the jaw bone is affected. Previously, it was shown that osteoclasts derived from different bone sites have different properties. We hypothesize that BPs have distinct effects on bone-site specific osteoclasts or precursors. To investigate this, female C57BL/6J mice were injected intraperitone...

HLA-B27 transgenic rats, developed by inserting into rat genome the gene for HLA-B27, a human Class I major histocompatibility molecule involved in antigen presentation, spontaneously develop arthritis, ankylosing spondylitis, gastrointestinal inflammation, and severe alveolar bone loss, among other signs of a generalized inflammatory response. Clinical manifestations in these rats closely resemble features of HLA-B27–associated diseases in humans. More recently, investig...

Brittle bones have been reported in children, adolescents and adults with cystic fibrosis (CF), independently of sex; this has been termed CF-related bone disease. In CF patients with the F508del mutation in the (Cftr) gene, vertebral fractures and the subsequent dorsal kyphosis decrease pulmonary function, thus accelerating the course of the disease. Mice with the homozygous F508del mutation in CFTR develop a severe osteopenic phenotype early on, in both sexes (Le He...

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: Severe vitamin D deficiency (VDD), is a common disorder, which has complications including rickets, hypocalcaemia, hypotonia, delayed development and cardiomyopathy. Although nutritional rickets associated craniosynostosis has been reported, there is little awareness of this or knowledge about its clinical course or severity. We present five cases of late onset craniosynostosis in association with nutritional rickets.Clinical presentation: Th...

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...

Menopause is accompanied by a decrease in bone mineral density which can be caused by a reduction in bone volume and/or degree of bone matrix mineralization. Both of them are suggested to contribute to the increased fracture risk in postmenopausal individuals. In the present work, we aimed for information whether a drop in bone matrix mineralization is occurring in the perimenopausal stage of women. For this purpose, we measured the bone mineralization density distribution (BM...

Objectives: Osteogenesis imperfecta (OI) is a group of rare genetic disorders characterized by osteoporosis, predisposition to fracture, and scoliosis. Recently, however, there has been increased focus on pulmonary insufficiency, as it is the leading cause of mortality in individuals with OI. The primary objective of this study is to determine if reduced pulmonary function in individuals with OI is intrinsic to the underlying connective tissue disorder. Another goal of this st...

Objectives: Fibrous dysplasia is a rare bone and endocrine disorder resulting from somatic activating mutations in GNAS. In the skeleton, proliferation of undifferentiated stromal cells results in osseous lesions that are prone to deformity, fracture, and pain. Lesions may affect one bone or many, and may occur in isolation or in association with hyperfunctioning endocrinopathies, termed McCune-Albright syndrome (MAS). Scoliosis is a potentially serious, even lethal c...

see PP205....