Bone Abstracts

Camurati-Engelmann disease (CED) is a rare autosomal dominant bone disease with transforming growth factor-β1 (TGFβ1) gene mutation. In order to expand our limited knowledge of Chinese CED patients, we reported eight Chinese families (11 patients) diagnosed with CED. The study was approved the Department of Scientific Research of Peking Union Medical College Hospital. All the patients were evaluated genetically, clinically, biochemically and radiographically...

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...

Purpose: PK-VF study, being conducted in 2007–2008 and 2012–2013, was aimed to investigate the prevalence and 5-year incidence of vertebral fractures (VFs) in postmenopausal women aged 50 years or older in Beijing, China.Methods: In the 2007–2008 survey, we randomly selected a community-based population of 1825 postmenopausal women, of whom 952 women also participated in the 2012–2013 survey. Adopting the same sampling strategies as 2...

Purpose: The aim of this 5-year prospective study was to investigate the association between type 2 diabetes mellitus (T2DM) and incident osteoporotic fracture (IOF) in Chinese postmenopausal women aged 50 years or older.Methods: We included 826 subjects, participating in both the baseline (2007–2008) and follow-up (2012–2013) studies. Based on the diagnosis of T2DM, subjects were first individualized into Non-T2DM and T2DM groups, which were t...