Bone Abstracts

Lysyl oxidase (LOX) catalyzes the cross-linking of collagens and elastin in the extracellular matrix, thereby regulating the tensile strength of many tissues, such as in bone. In cancer, LOX plays a critical role in facilitating tumor growth and metastasis formation in soft tissues. In this study, we first showed by immunohistochemistry using patients’ tumor specimens, that LOX was expressed in the desmoplastic tumor stroma of pairs of colorectal carcinomas and their matc...

Background: Genetic advances have led to the identification of 14 genes implicated in Osteogenesis imperfecta [OI], encompassing 96–98% of cases. Hallmark features of osteogenesis imperfecta include fractures from minimal trauma, bowing of the legs and growth retardation. Non-skeletal features include blue sclera, dentinogenesis imperfecta, hearing and refractory visual deficits, pulmonary dysfunction and cardiac valvular malformations. Classical radiographic features are...

Background: Pathogenic mutations in thyroid hormone receptor interactor 11 (TRIP11) have previously been associated with achondrogenesis1A, a lethal autosomal recessive skeletal dysplasia. Recent findings have suggested that hypomorphic mutations of TRIP11 result in odontochondrodysplasia (ODCD), a rare syndrome associated with spondylometaphyseal dysplasia and dentinogenesis imperfecta.Presenting problem: This is the case of a term female born to non-co...

Background: Nutrition is a cornerstone of child health. Appropriate nutrient intake contributes to bone health, relevant to conditions of bone fragility. Nutrient intake in chronic conditions can be adversely affected by altered dietary behaviours such as mealtime behaviour and food choice. Dietary behaviour and nutrient intake have not been explored in children with Osteogenesis Imperfecta (OI), the commonest cause of children’s bone fragility.Aim:...

Giant cell tumour of bone (GCTb) is an osteolytic neoplasia with tendency to local recurrence (10–25%), while metastases or malignant transformation are described in 1–4% of cases.It is composed by three distinct populations that cross-talk each other generating unbalance in bone remodeling and activation of NF-kB signaling pathway.To identify new candidate biological markers useful for improving clinical management of GC...

Introduction: Bone health in patients with sickle cell disease and thalassemia is impaired. These patients feature altered parameters of bone metabolism and bone mineral density.Aim and design: To investigate bone health in patients with hemolytic anemia we conducted a cross-sectional analysis in our Hematology Outpatient Clinic at the Children’s Hospital Essen. The largest subgroups within our cohort are patients with homozygous sickle cell (HBSS) ...

ADO2 is a debilitating genetic bone disease causing multiple fractures and other severe symptoms. A mouse model of ADO2, harbouring the heterozygous Clcn7G213R gene mutation, phenocopies the human syndrome. The Clc7 gene encodes the ClC7 dimeric 2Cl−/1H+ antiporter that is almost ubiquitously expressed, although the mutations hit especially the osteoclasts impairing bone resorption. By immunofluorescence, we observed that the mutant ClC7 ...

Up to half of women treated with an aromatase inhibitor (AI) for breast cancer develop muscle weakness, bone loss, and joint pain. Moreover, an elevated state of osteoclastic bone resorption has been shown to prime the bone microenvironment in ways that accelerate metastatic growth. We hypothesized that AI-induced bone loss could increase breast cancer progression in bone and exacerbate muscle weakness associated with bone metastases. Four-week female athymic nude mice underwe...

Objective: To assess the effect of mechanical loading in anorexia nervosa (AN) in vivo, by comparing bone geometry and microarchitecture in weight bearing versus non-weight bearing bone.Subjects and methods: A total of 26 female patients with AN, and 26 female controls matched on age and height were included. Bone geometry, volumetric bone mineral density (vBMD) and microarchitecture were assessed using HR-pQCT (Scanco Medical, Brütisellen,...

Bone tissue homeostasis requires the coordinated activity of osteoblasts, the bone forming cells, of osteoclasts, the bone resorbing cells, and of osteocytes, generally referred as the bone mechano-sensors. In this contest, osteoblasts are the mesenchymal cells secreting the extracellular matrix components on which hydroxyapatite crystals are then deposited. The most abundant protein of this organic matrix is type I collagen, a heterotrimeric secretory protein, synthesized as ...