Bone Abstracts

Osteogenesis imperfecta (OI) type V is caused by a unique dominant mutation (c.−14C>T) in IFITM5, which encodes BRIL, a transmembrane ifitm-like protein most strongly expressed in osteoblasts, while type VI OI is caused by recessive null mutations in SERPINF1, encoding pigment epithelium-derived factor (PEDF). We identified a 25-year-old woman with severe OI, whose dermal fibroblasts and cultured osteoblasts displayed minimal secretion of PEDF, but ...

Individuals with type 1 diabetes have over a sixfold increased risk of sustaining a hip fracture compared to the general population. Despite this, bone fragility is not recognized as a classic diabetes-related complication and many diabetes guidelines make no mention of fracture prevention or bone health.We studied bone health in a population of patients with known type 1 diabetes being followed by endocrinologists at an academic centre. Patients filled ...

Introduction: Denosumab monoclonal antibody approved for Osteoporosis’s treatment in Europe union and U.S.A. Dose of 60 mg every 6 months reduces the risk of vertebral, non vertebral and hip fractures. What is more increases BMDMaterial and methods: Descriptive observational study with densitometric characterisques and risk factors of 64 patients in Osteoporosis unit of HGUG Marañón from November 2011 to December 2013. Analyzing occurrence...

Background: Osteogenesis imperfecta (OI) is a hereditary connective tissue disorder characterized by increased bone fragility and low bone mass. The different types of OI may be distinguished by their clinical features and the causative genes, with COL1A1 and COL1A2 genes as the most frequent. The guidelines for OI genetic diagnosis first recommends the screening of COL1A1 and COL1A2 genes using Sanger sequencing. However, this method has li...

Multiple myeloma (MM) bone disease is characterized by lytic bone lesions that contribute to patient morbidity and mortality after patients are in complete remission. The mechanisms mediating this long-term osteoblast (OB) suppression are poorly understood. We hypothesized that MM cells induce epigenetic changes at the Runx2 promoter in preOB bone marrow stromal cells (BMSC). We demonstrated that Gfi1, a transcriptional repressor of Runx2 that is induced in B...

Background: We have previously found in the chronic SKG mouse model of arthritis that long standing (5 and 8 months) inflammation directly leads to high collagen bone turnover, disorganization of the collagen network, disturbed bone microstructure and ultimately declining in bone biomechanical properties. Our main goal was to study the effects of the inflammatory process on the microarchitecture and mechanical properties of bone in the early stages of arthritis development.</p...

GNAS-Gsalpha based disorders lead to heterogeneous diseases associated with abnormal bone development via two distinct mechanisms. At the level of the growth plate in bones, the PTHrP/PTH1R/Gsalpha/cAMP/PKA/PDE signalling pathway regulates endochondral ossification. PTHrP binds to the PTH receptor (PTH1R) which then couples with the stimulatory G protein (Gsalpha) leading to cAMP formation. cAMP binds to the regulatory 1A subunits (R1A) of the PKA. Upon binding the catalytic s...

Objectives: Vitamin D has an important effect on bone but there are no trials that directly address the boosting of serum levels of 25-hydroxyvitamin D (25OHD) in bone microarchitecture in Juvenile-onset Systemic Lupus patients (JoSLE). The aim of this study was to evaluate the effect of vitamin D supplementation on bone microarchitecture parameters using HR-pQCT in JoSLE patients.Methods: This study was a randomized double-blind placebo-controlled 24-we...

Background: Parathyroid hormone-like hormone (PTHLH) is an important regulator of endochondral bone development. Mutations of the PTHLH gene can cause a variety of different skeletal dysplasias, with duplications of the PTHLH gene resulting in a phenotype characterized by endochrondomatosis, metaphyseal dysplasia and osteolysis.Presenting problem: Our patient presented at the age of 4 months, given concerns regarding lower limb deformit...

Background: Mutations in SATB2 have been described in association with a unique phenotype known as SATB2-associated syndrome (SAS). This condition is characterised by severe intellectual disability affecting speech development, behaviour, facial features and dental anomalies. Skeletal features and osteoporosis have been reported in older individuals (aged 15–36), in association with point mutations. We report a 24-year-old man with a SATB2 misse...