Bone Abstracts

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...

Tenofovir disoproxil fumarate (TDF) is a critical component of first-line antiretroviral regimens for HIV worldwide. However, TDF-containing regimens have been associated with decreased bone mineral density and increased fracture risk, which may in part be mediated through secondary elevations in parathyroid hormone (PTH). Prior cross-sectional data suggest vitamin D binding protein (DBP) levels may increase with TDF exposure leading to a functional vitamin D deficiency, which...

Objects: Seventy seven clinically diagnosed pseudohypoparathyroidism (PHP) patients from our hospital during 2000–2010 were recruited to analyze the clinical features and molecular genetics of Chinese PHP patients.Methods: The clinical data of the 77 PHP patients were retrospectively analyzed. Methylation status of GNAS was detected by combined bisulfiterestriction analysis. Genome DNA was extracted from peripheral blood lymphocytes. GN...

Objective: Multiple endocrine neoplasia type 1-related PHPT (MHPT) differs in many aspects from sporadic PHPT (SHPT). The aims of the study were to summarize the clinical features of Chinese MHPT and compare the severity of the disease with SHPT.Design and methods: A total of 40 MHPT cases (27 sporadic, seven families) and 169 SHPT patients of Chinese descent were retrospectively analyzed. X-rays and ultrasound were used to assess the bone and urinary sy...

Context: Primary hyperparathyroidism (PHPT) in children is thought to be extremely rare. We reviewed our experience with PHPT to better characterize these patients.Objective and methods: A total of 62 patients (<18 years) treated in our hospital were respectively analysed to summarize the clinical characterization and molecular genetics in this rare condition in Chinese. The study was approved by the local Ethics Committee of our center.<p class=...

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...

Background: Hypoxia induces mesenchymal stem cells (MSCs) proliferation but results in a population with impaired osteogenic differentiation potential. Bone healing of tibial lengthening is enhanced by hyperbaric oxygen therapy. However, little is known about the effects of HBO on the Wnt signaling pathway in MSCs.Materials and methods: MSCs were cultured in complete medium and the osteogenic groups were cultured in osteogenic induction medium. Control c...

Mammalian target of rapamycin (mTOR) functions mainly in the form of two complexes, namely mTORC1 and mTORC2, which are distinct in their unique components, raptor and rictor. Here, we focused on bone phenotypes in mice with a specific deletion of rictor using a Cre recombinase gene whose expression was driven by the promoter of osteocalcin. All procedures involving mice were approved by the Institutional Animal Care and Use Committee of the local admin. DXA analysis showed a ...

Mammalian target of rapamycin (mTOR) functions mainly in the form of two complexes, namely mTORC1 and mTORC2, which are distinct in their unique components, raptor and rictor. Here, we focused on bone phenotypes in mice with a specific deletion of rictor using a Cre recombinase gene whose expression was driven by the promoter of osteocalcin. All procedures involving mice were approved by the Institutional Animal Care and Use Committee of the local admin. DXA analysis showed a ...

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...