Bone Abstracts

Objectives: Fibroblast growth factor 23 (FGF23) is a bone-derived phosphaturic hormone. The main target organ is the kidney, where FGF23 suppresses renal phosphate reabsorption and vitamin D synthesis. It also stimulates calcium reabsorption in the kidney. FGF23 secretion is stimulated by 1,25(OH)2D and by increased extracellular phosphate concentration, thus forming a feedback loop between kidney and bone. The bioactive intact FGF23 contains 251 amino acids and is glycosylate...

Fibrodysplasia ossificans progressiva (FOP; OMIM #135100) begins in childhood and leads to irreversible restriction of movement, functional impairment, and shortened life-span. Individuals with FOP develop progressive limitations in chest expansion, resulting in restrictive lung disease. Current management guidelines published in 2011 (1) highlight that Influenza may be a causative factor for FOP flare-ups, and can also cause potentially deadly cardiopulmonary complications, e...

Background: Familial hypocalciuric hypercalcaemia type 3 (FHH3) is a genetically heterogenous autosomal dominant disorder caused by loss-of-function mutations in the AP2S1 gene. This gene encodes the alpha-2 subunit of the adaptor protein-2 complex, which facilitates endocytosis of plasma membrane constituents such as G-protein coupled receptors.Objective: It has been suggested that FHH3 may be associated with cognitive deficits (1). We assessed...

1,25-Dihydroxyvitamin D (1,25D) is one of the major regulators of calcium metabolism. Due to its lipophilic nature and low circulating concentration, the measurement of 1,25D concentration levels has been labour intensive and technique dependent in addition to multiple equipments required for the sample purification procedure. We reported the results of soon to be commercialised fully on-board IDS-iSYS 1,25 VitDXp assay.IDS-iSYS 1,25 VitD...

After many years of study, researchers show that obesity can harm the bones. It is not known whether the increased fat mass can accelerate the process of bone loss. The aim of this study was to evaluate whether high-fat diet accelerates the process of bone loss in ovariectomized rats. This study was approved by the Ethics Committee of our Institution (188/2013). 40 female wistars rats with body mass of 60 g were used in this study. They were equally divided into four experimen...

Introduction: Osteopenia and osteoporosis are osteometabolics disorders characterized by decreased bone mineral density (BMD) with deterioration of bone microarchitecture. Since the beginning of the space age, there was a growing interest in trying to reproduce on Earth an environment that could simulate the effects of microgravity to induce bone, a state of osteopenia. The aim of this study was to present a new osteopenia induction model through the full body suspension.<...

Background: We identified a family with early onset X-linked osteoporosis and fracturesMethods: We performed whole exome sequencing of the X chromosome in three affected members. After discovering a putative pathogenic variant we performed Sanger sequencing of all exons of this gene in other members of this family and in 95 unrelated men suspected of OI type I without COL1A1/2 mutations. We also genotyped a SNP in this gene (minor allele frequency 0.02) ...