Bone Abstracts

Background: Biallelic pathogenic variants in ACP5, encoding tartrate-resistant acid phosphatase (TRAP), result in the immuno-osseous disorder spondyloenchondrodysplasia (SPENCD), characterized by metaphyseal dysplasia and a variety of autoimmune phenotypes, particularly systemic lupus erythematosus (SLE). Importantly, patients with SPENCD demonstrate an upregulation of type 1 interferon (IFN) stimulated genes (ISGs) similar to that observed in SLE. Since very little i...

Biographical DetailsMichael D Briggs obtained his PhD at the MRC Clinical Research Centre, Harrow, studying the genetic basis of osteogenesis imperfecta. He undertook postdoctoral work at UCLA identifying the genetic basis of chondrodysplasias. In 1996 Mike moved to Manchester as an AR-UK Fellow to continue studying disease mechanisms in chondrodysplasia. In 2004 he was awarded a Wellcome...

Skeletal diseases are a large and diverse group of rare monogenic phenotypes and there are more than 450 unique and well-characterised chondrodysplasia phenotypes that range in severity from relatively mild to severe and lethal forms. Studying these genetically tractable chondrodysplasia phenotypes provides insight into disease pathways that may be relevant to the more common and polygenic forms of OA.Pseudoachondroplasia (PSACH) and multiple epiphyseal ...

Genetic skeletal diseases (GSDs) are an extremely diverse and complex group of rare genetic diseases that primarily affect the development and homeostasis of the osseous skeleton. There are more than 450 unique and well-characterised phenotypes that range in severity from relatively mild to severe and lethal forms. Although individually rare, as a group of related genetic diseases, GSDs have an overall prevalence of at least 1/4000 child. Qualitative defects in cartilage struc...

Cysteine-rich with EGF like domains 2 (Creld2) has recently been identified as an endoplasmic reticulum (ER) stress inducible gene in the context of skeletal dysplasia caused by mutant protein accumulating in the ER eliciting an unfolded protein response (UPR). Creld2 was originally implicated in ER stress following the treatment of Neuro2α cells with thapsigargin. Furthermore, the promoter of Creld2 contains an ER stress activating transcription factor ...

Few interventions directly compare equivalent calcium and vitamin D from dairy vs supplements on the same bone outcomes.Objectives and Methods: Using 41Ca tracer techniques, determine if 4 servings/d of dairy foods reduces Ca excretion more than an equivalent amount of Ca and vitamin D from supplements. Secondary objective was to evaluate the time course for change in Ca excretion.Design: In this crossover trial, postmen...

The pediatric osteogenesis imperfecta (OI) team at our university hospital was established in 1991. The multi- and inter-disciplinary team consists of: pediatric neurologist, nurse, nursing assistant, physiotherapist, occupational therapist, orthopedic surgeon, orthotist, radiologist, dentist and geneticist. We also have a close collaboration with other specialists.Our assignment is high qualified diagnostics, functional assessments and also individualiz...

Introduction: The platform of expertise for rare diseases Paris-Sud is an organization created at the end of 2014. It brings together 21 reference centers for rare diseases of the university hospitals Paris-Sud, 12 diagnostic and research laboratories, a biological resource center and several patient associations.Methods: A multidisciplinary team (a communication officer, a bio-informatician, a geneticist, clinical research associates, an administrative ...

Areal bone mineral density (aBMD) of the PA spine and proximal femur remained the gold standard for WHO classification of osteoporosis, fracture prediction and patient monitoring. Unfortunately, with age it is not infrequent to observe the presence of degenerative disease such as spinal osteoarthritis which would have a positive artifactual impact on aBMD which could lead to an erroneous interpretation. In a previous study it has been demonstrated that apparently such artifact...

In adults, majority of bone marrow (BM) space of long bones is filled with fat tissue. Adipocytes are also present within trabecular bone areas such as vertebral bodies. Despite its prevalence the roles of BM fat in energy and bone metabolism have been largely overlooked. To characterize bone marrow metabolic activity we measured regional glucose uptake in femoral and vertebral bone marrow during fasting and insulin stimulation in normal weight healthy subjects.<p class="a...