Bone Abstracts

Background: Women with breast cancer (BC) are at high risk for fracture due to the deleterious impact of BC therapies on bone. In China, BC survival is improving as screening and treatment programs expand, however no guidelines exist to prevent BC treatment-induced bone loss. We sought to evaluate the scope of this problem among BC survivors receiving care at a large cancer referral hospital in China.Methods: Women were invited to participate in this cro...

The effects of dexamethasone on trabecular and cortical bone in OPG−/− mice were investigated in present study. Forty 6-month-old C57BL/6J female mice, including wt (n=20) and OPG knockout (OPG−/−, n=20), were randomdly divided into four groups and treated with either sterile normal saline or dexamethasone at 1 mg/kg by intramuscular injection 3 days per week. All mice were sacrificed at 4 weeks after these treatm...

Antenatal glucocorticoid (GC) injections are not only used to enhance fetal lung maturation in preterm children but also for the treatment of maternal conditions such as autoimmune diseases or infections. Animal models and clinical studies suggest that the regulation of the hypothalamic–pituitary–adrenal axis is altered in the offspring of GC-treated mothers with increased sensitivity to stress.Objective: The aim of this study is i) to define t...

Owing to their anti-inflammatory effects, steroid therapy using glucocorticoids (GCs) is still part of the treatment of rheumatoid arthritis (RA), despite several severe side effects like glucocorticoid-induced osteoporosis (GIO). Until now the molecular mechanisms underlying the beneficial and side effects of GC therapy are poorly understood. GCs exert their actions via the glucocorticoid receptor (GR) that alters gene expression by either binding as a dimer to GC response el...

Chronic stress and depression are associated with alterations in the hypothalamic–pituitary–adrenal signalling cascade and considered a risk factor for bone loss and fractures. However, the mechanisms underlying the association between stress and poor bone health are unclear. Utilising a transgenic (tg) mouse model in which glucocorticoid signalling is selectively disrupted in mature osteoblasts and osteocytes (HSD2OB-tg mice), the current study examines t...

Chronic stress and depression are associated with alterations in the hypothalamic-pituitary-adrenal signalling cascade and considered a risk factor for bone loss and fractures. However, the mechanisms underlying the association between stress and poor bone health are unclear. Utilising a transgenic (tg) mouse model in which glucocorticoid signalling is selectively disrupted in mature osteoblasts and osteocytes (HSD2OB-tg mice), the current study examines the impact ...

Objectives: Asfotase alfa (AA), an enzyme replacement therapy, is the only approved medical treatment for pediatric-onset hypophosphatasia (HPP), which is caused by deficient tissue-nonspecific alkaline phosphatase activity. We detail the long-term efficacy of AA observed from the pediatric clinical trial program.Methods: Efficacy data collected to study completion were pooled from 3 open-label, multicenter investigations of children who manifested HPP s...

Multiple myeloma (MM) bone disease is characterized by lytic bone lesions that contribute to patient morbidity and mortality after patients are in complete remission. The mechanisms mediating this long-term osteoblast (OB) suppression are poorly understood. We hypothesized that MM cells induce epigenetic changes at the Runx2 promoter in preOB bone marrow stromal cells (BMSC). We demonstrated that Gfi1, a transcriptional repressor of Runx2 that is induced in B...

TRPV4-associated skeletal dysplasias include: FDAB, ADBO, SMDK, SEDM, MD and Parastremmatic dysplasia. In this study, we recruited 3 families with congenital scoliosis and 1 family with localized digital osteopetrosis. We collected their clinical data and use the next-generation sequencing system, Sanger sequencing and RT-PCR to obtain the genetic diagnosis. Proband 1, 2, 3 all presented with early-onset kyphoscoliosis and short stature. X-ray showed platyspondyly, hemivertebr...

Pseudovitamin D-deficiency rickets (PDDR) is a rare autosomal recessive disorder resulting from a defect in renal 25-hydroxyvitamin D 1α-hydroxylase, which is encoded by the CYP27B1 gene. To our best knowledge, 48 mutations of the CYP27B1 gene have been identified so far. In the present study, we investigated CYP27B1 mutations in seven individuals from six separate families and identified nine different mutations: two novel missense mutations (G194R, R259L), three novel a...