Bone Abstracts

Background and objective: Data concerning the incidence of fractures in Italy have been displayed since year 2000 by analysing hospital discharge records (HDRs). However, the influence of seasonal and environmental factors on fracture events in the Italian population has not yet been assessed.Methods: We have analyzed HDRs for primary diagnosis of hip, vertebral, forearm, humeral and knee fractures in Italy from year 2007 to 2009. Inferential statistics ...

Objectives: Gorham-Stout disease (GSD) is a very rare disorder characterized by extensive angiomatous proliferation and progressive osteolysis without new bone formation. Only ~200 patients were reported. The quality of life is very poor since patients display pain, fractures, functional impairment and swelling of the affected regions. The ethiology of GSD is unknown. We aim to investigate the bone phenotype and to identify molecular and cellular defects in GSD patients.<p...

Receptor activator of nuclear factor kappa B ligand (RANKL)-induced activation of NF-κB and MAPKs signaling pathways is critical to osteoclastogenesis. Glossogyne tenuifolia has been used as an antipyretic, detoxication, and anti-inflammatory herb tea in Penghu Island, Taiwan. This study investigated the effects of G. tenuifolia ethanolic extract (GTE) on the formation of RANKL-activating osteoclasts and expression of signaling pathways using a RAW264.7 ...

Wnt signaling is a major regulator of bone metabolism. We recently reported that mutations in WNT1 gene in humans cause early onset osteoporosis and severe osteogenesis imperfecta. To identify the cellular source and the mechanisms causing these severe phenotypes we generated and analyzed global and conditional Wnt1 knockout mice.Heterozygous Wnt1+/− mice were viable and fertile but Wnt1−/− embryos were lost in ute...

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...

Objective: To test the hypothesis that the cemented and uncemented implants had effect on the measurement of proximal femur BMD by DEXA.Methods: 40 patients underwent unilateral THA using cemented (n=20) and uncemented (n=20) implants due to developmental dysplasia of the hip, femoral neck fracture or femoral head necrosis from January 2015 to July 2015 were included. Preoperative DEXA scans were acquired for the BMD of the posteroanter...

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...

Objectives: Several genes have been recognized to be associated with nonsurgical hypoparathyroidism. Most previous studies focused on gene mutation among paediatric hypoparathyroidism patients. Data about gene mutations in adult-onset hypoparathyroidism patients is still lacking. This study was designed to evaluate the role of gene defects in the pathogenesis of adult-onset hypoparathyroidism in China through the targeted next-generation sequencing (NGS).<p class="abstext"...

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...

Objectives: For paediatric patients with hypoparathyroidism, genetic defects should be considered firstly. This study was to investigate the clinical features and analyse gene mutations of Chinese patients with child-onset hypoparathyroidism.Subjects and methods: We enrolled 35 paediatric patients with hypoparathyroidism at our clinical centre between 1984 and 2014. Clinical characteristics were collected and Targeted next-generation sequencing (NGS) was...