Bone Abstracts

Background: Epidermolysis bullosa (EB) is a rare, genetic skin disorder characterized by increased skin fragility after relatively minor trauma. It varies in severity even within the same subtype, ranging from a minor inconvenience to a severely disabling or life threatening disorder. In generalized forms, EB is a systemic disorder in which osteoporosis is a frequent manifestation.Presenting problem: While the mutations that cause EB do not have a direct...

Objective: Nephropathic cystinosis is an orphan autosomal recessive lysosomal storage disease characterized by a deficiency of cystinosin, a cysteine transporter protein, encoded by CTNS. As a consequence of the disease cystine crystals accumulate leading to tissue damage, primarily in kidney and cornea. With improved medical care, new challenges like skeletal complications are a matter of concern. Only few data are available dealing with bone development. The aim of our study...

The clinical orthopaedic problem of delayed healing or non-union after complex fractures affects 5–10% of all patients, especially within the elderly population. Recently several in vitro studies showed that CD133+ cells bare angiogenic capacities and contribute to a better outcome concerning ischemia induced angiogenesis in vivo. A local administration of these specific cells to the fracture gap appears feasible as a new treatment option for biological ...

Chordomas are rare, low to intermediate grade malignant bone tumors of the axial skeleton. Current treatment options are limited to surgical procedures as chordomas are largely resistant to conventional radiation and chemotherapy. Cell lines are valuable tools to explore molecular mechanisms involved in tumorigenesis and they have a fundamental impact on the development of new anticancer agents. We established a novel chordoma cell-line, MUG-Chor1, from a recurrent morphologic...

After trauma or carious lesion dental pulp healing is difficult to predict. In addition systemic diseases like diabetes mellitus can impair the regenerative capacity. New regenerative strategies target prolyl hydroxylase (PHD) by pharmacological inhibitors to stimulate hard and soft tissue healing. PHD inhibitors such as L-mimosine (L-MIM) induce vascular endothelial growth factor (VEGF) production by promoting angiogenesis. However, it is unclear if L-MIM is a feasible tool t...

The healing of skeletal fractures involves a cascade of overlapping cellular events. This study aims to deepen the understanding of molecular networks orchestrating these events.Standard closed fracture in the left femur of male 8–10 weeks old C57BL/6N mice were analyzed at (day=D) D3, D7, D10, D14, D21 & D28 post fracture (N=5/time point). Total RNA was prepared for whole genome expression profiling using Illumina μ-array kit. Dat...

Increasing bone formation is an effective approach to prevent osteoporotic fractures. Although the intermittent administration of PTH is an established osteoanabolic therapy and an anti-Sclerostin antibody (Scle-AB) is currently being tested in phase 3 clinical trials, a great need exists for additional bone anabolic agents. Thus, in the context of a bi-national consortium we aim to uncover novel epigenomic networks controlling bone formation to identify new epigenomic approac...

Objectives: Chronic non-bacterial osteomyelitis (CNO) is an inflammatory, non-bacterial disorder of the skeletal system of yet unknown etiology (ORPHA 324964). CNO predominantly affects the metaphyses of long bones, but lesions can occur at any sites of the skeleton. Patients present with local bone pain and inflammation and - to our experience - often suffer from functional impairment with significant disabilities of daily life. The objective of this study was to assess physi...

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...

Mutations in LRP5 cause a variety of phenotypes, including high bone mass and low bone mass disorders. In patients with high bone mass, different heterozygous mutations have been described, all of them clustering in a region including the binding pocket for DKK1 and sclerostin. The pathogenic mechanism is thought to be a gain-of-function mediated by an impaired inhibition of the canonical Wnt signalling pathway, thereby leading to increased bone modelling.<p class="abstext...