Bone Abstracts

Introduction: Elevated FGF-23 serum levels are induced by hyperphosphatemia and are linked to poor skeletal mineralization and adverse outcomes including vascular calcification and mortality. Recently, it was shown that FGF-23 levels are substantially elevated in acute kidney injury (AKI), and that higher levels in AKI are associated with a greater risk of adverse outcomes.Methods: In 25 vitamin D deficient (25(OH)D <20 ng/ml) critically ill adults w...

Introduction: Granulocyte colony-stimulating factor (G-CSF) is widely used to mobilize peripheral blood stem cells (PBSC) and enable PBSC collection by apheresis. Although bone pain is a common adverse event following G-CSF treatment, little is known on its effect on bone metabolism.Methods: Markers of bone turnover (OC, osteocalcin, β-CTx, bALP, C-terminal telopeptide of type I collagen, bone specific alkaline phosphatase, TRAP, tartrate resistant ...

Introduction: Effective treatment of postmenopausal osteoporosis (PMO) is frequently compromised by poor adherence to short-term (≤1-monthly) medications. Aim of this study is to investigate the effect of parenteral ibandronate (IBN) compared to denosumab in a cohort of IBN pretreated PMO patients.Methods: In a retrospective analysis, a total of 808 women were treated with quarterly 3 mg IBN injections for 27+3 months and were regularly mo...

Inflammatory stimuli can lead to bone loss by mechanisms that are not well understood. We recently showed that skin inflammation induces bone loss in mice and humans. In psoriasis, one of the prototypic IL-17A-mediated inflammatory human skin diseases, low bone formation and bone loss correlates with increased serum IL-17A levels. Similarly, in two mouse models with chronic IL-17A-mediated skin inflammation, K14-IL17Aind and JunB&...

Pathophysiological calcification in the vasculature favours cardio- and cerebrovascular diseases. In patients with chronic kidney disease vitamin K metabolites are associated with decreased vascular calcification.We investigated the expression of vitamin K dependent proteins (VKDPs) in vessels and bone to identify differences in expression pattern during atherosclerosis (AS) stages and compare the two tissue profiles.Gene expressio...

Cole-Carpenter syndrome (CCS) is commonly classified as a rare Osteogenesis Imperfecta disorder. This was following the description of two unrelated patients with very similar phenotypes who were subsequently shown to have a heterozygous missense mutation in P4HB. Here, we report a 3-year old female patient who was diagnosed with a severe form of OI. Exome sequencing identified the same missense mutation in P4HB as reported in the original cohort, thus reinfo...

Background: Congenital multiple hormone deficiency (CMHD) is a rare condition caused by mutations in transcription factors involved in pituitary ontogenesis1. Incidence of mutations in POU1F1 gene in results between 3.8 and 7.7%2. POU1F1 gene mutations lead to somatolactotroph and thryotroph deficiencies. Brain MRI can be normal or shows pituitary hypoplasia without extrapituitary anomalies.Presenting problem: We describe the growth...

Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic cause of renal failure. Data from adult ADPKD population show increased fibroblast growth factor 23 (FGF23) levels while circulating Klotho levels decrease, with a low TmP/GFR even in patients with normal renal function. Moreover, in ADPKD animal models, cyst lining renal cells were demonstrated to produce FGF23, although the animals displayed FGF23 resistance. No data are available in a paediatr...

Calcification in the vasculature is one of the leading causes of cardiovascular diseases and mortality outcomes. Therefore, the aim of our study was to investigate changes in the gene expression of calcification regulators (CR) in arterial vessels during different stages of atherosclerosis and to document potential corresponding changes in the bone. OPG, RANKL, OPN, MGP, BSP-II and RUNX2 were candidate genes for our study in bone, aorta and arteria ilica externa tissue samples...

Patients with chronic inflammatory diseases such as psoriasis are at high risk for developing osteoporosis. Psoriatic arthritis patients exhibit bone loss caused by increased bone resorption through activation of osteoclasts. However, it is not clear whether psoriasis can lead to bone loss in the absence of arthritis. Using mouse models with skin inflammation as well as psoriasis patient samples, we show that increased circulating IL-17A from the inflamed skin triggers bone lo...