Bone Abstracts

The body mass index has been regarded as a risk predictor factor for fractures, and in some prospective cohort studies it has been suggested that obesity could be a protective factor for hip fractures in adults.The present study aimed to investigate whether body mass index is related to the fracture risk when individuals had sideways falls in Mexican patients. We analyzed files from 448 patients, which checked in at Orthopedics and Traumatology Service i...

Background: Ehlers–Danlos syndrome (EDS) comprises a group of inherited connective tissue disorders, caused by various defects in the biosynthesis or secretion of fibrillar collagens. As collagen represents a major constituent of the bone matrix as well as of tendons and muscle, bone strength in EDS patients might be impaired both via direct and indirect pathways. Although decreased muscle strength, decreased areal bone mineral density (BMD) and increased fracture risk ha...

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...

Background: Weyers acrofacial dysostosis (WAD, OMIM 193530) is a rare autosomal dominant disease, characterized by mildly short stature, postaxial polydactyly, nail dystrophy and dental anomalies. WAD should be distinguished from Ellis-van Creveld syndrome (OMIM 225500), a similar but more severe disease, comprising chondrodysplasia, orofacial anomalies and, in a proportion of patients, cardiovascular malformations. Both diseases are caused by mutations in either EVC or EVC2<s...

Objective: Rett syndrome (RTT) is an X-linked neurodevelopment disorder. More than 95% of RTT female have mutations in methyl-CpG-binding protein 2 (MECP2), whose protein product modulates gene transcription. Specific MECP2 mutations may lead phenotypic variability and different degrees of disease severity. It is known that low bone mass is a frequent complication of subjects with Rett syndrome. This study aimed to investigate if specific MECP2 mutations may affects the degree...

Vertebral fractures (VF) defined by morphometric analysis of spine radiographs are the most common complication of osteoporosis. Those that come to medical attention, with symptoms such as back pain and kyphosis are termed clinical vertebral fractures (CVF) and account for significant morbidity and mortality. Although much progress was made in identifying loci for bone mineral density, the genetic determinants of CVF remain unclear. Here we present the initial results from a g...

Background: Puberty is highly important for the accumulation of bone mass. Bone turnover and bone mineral density can be affected in transgender adolescents when puberty is postponed by gonadotropin-releasing hormone analogues (GnRHa), followed by treatment with cross-sex hormone therapy (CSHT).Objective: To investigate the effect of GnRHa and CSHT on bone turnover markers (BTMs) and bone mineral apparent density (BMAD) in transgender adolescents.<p ...

Excess vitamin A has been associated with decreased cortical bone thickness and increased fracture risk. While most studies in rodents have been done using very high doses of vitamin A for a few days, we here investigate how clinically relevant doses of vitamin A, calculated from the Recommended Daily Allowance (RDA) in humans, affects the bone phenotype in mice after longer exposure.C57BL/6 mice were fed either a control diet (15 IU/g retinyl acetate), ...

Introduction: Parathyroid hormone (PTH) measurement is of use in i) differential diagnosis of hypercalcaemia and ii) patients with renal impairment at risk of bone disease. PTH immunoassays are complicated by cross-reactivity with truncated (inactive) variant forms, which accumulate in patients with renal impairment. PTH assay variability is a critical governance issue in renal medicine, suggesting an MS-based reference method is required.Aim: To develop...

BA058 is being developed as an anabolic therapy for the treatment of osteoporosis. Daily BA058 SC injection has produced promising safety and efficacy results in early clinical studies, and is currently enrolling in a Phase 3 fracture prevention study. There is, however, a significant need for an alternative to injection that improves patient convenience and compliance. We have investigated the use of a solid Microstructured Transdermal System (3M) for transdermal (TD) deliver...