Bone Abstracts

Introduction: Vascularised fibula autograft combined with a massive bone allograft (Capanna 2007) is used in skeletal reconstructions in children. If vascularisation is successful a clear remodelling of the reconstruction can be observed. This study aims to define a protocol to characterise bone’s structural evolution in skeletal reconstructions through a computer-aided analysis, and attempts a biomechanical interpretation of the observed phenomena through a multiscale mo...

Osteoblasts line the inner surface of the bone and are located in close proximity to the bone marrow, where hematopoiesis takes place. Osteoblasts produce several cytokines that affect various steps of hematopoiesis, and produce fibronectin isoforms that affect cell differentiation. Little is known however on whether osteoblasts modulate the immune response. Our aim was to evaluate the role of fibronectin originating from the osteoblasts on hematopoiesis and the immune respons...

Bone therapeutics is a bone cell therapy company addressing high unmet medical needs in the field of bone fracture repair, more specifically in non-union and delayed-union fractures where the bone repair process is impaired. The company has developed a unique allogeneic osteoblastic cell product (ALLOB®) derived from bone marrow which is currently tested in humans in the indication of delayed-union fractures. The purpose of the study was to directly compare ALL...

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...

Although estrogen deficiency has been considered for a long time as the main factor leading to osteoporosis (OP), several lines of evidence highlight the role of oxidative stress increase with age as a key factor in this pathology. Autophagy acts as a central mechanism allowing damaged macromolecules and organelles to be degraded and recycled, such as mitochondria, the main source of reactive oxygen species (ROS). Recent publications have shown that autophagy is a new actor in...

Homozygous or compound heterozygous mutations in the RECQL4 helicase gene are responsible for 65% cases of Rothmund-Thomson syndrome (RTS-type II), a rare premature ageing syndrome. RTS-II patients exhibit poikiloderma and various kinds of bone abnormalities: short stature, congenital radial ray anomalies, bone microarchitecture defects, diffuse or localized osteoporosis and increased risk of osteosarcoma. Mutations in the RECQL4 gene are also responsible for...

Introduction: Paget’s disease of bone (PDB) has an autosomal-dominant mode of inheritance in one-third of cases. The germinal SQSTM1/P392L mutation is the most frequent mutation, present in 40% of patients with a familial form of PDB, and 8% of unrelated patients. Fibrous dysplasia (FD) is a rare bone disorder, mono or polyostotic, caused by post-zygotic mutations in GNAS gene, for which a PCR-clamping method was developed to ease their detection and avo...

Background: Stuve–Wiedemann syndrome (SWS, OMIM 601559) is a severe autosomal recessive condition characterized by bowing of the lower limbs with cortical thickening, wide metaphyses, abnormal trabecular pattern and camptodactyly. Additional features include dysautonomia symptoms with temperature instability, respiratory distress and sucking/swallowing difficulties in the first months of life.Most SWS cases do not survive beyond the first y...

Background: Mutations in the SCN8a gene, which encodes one of the most abundant voltage gated sodium channels; Nav1.6, has a strong association with epileptic encephalopathy type 13, ataxia, muscle atrophy and intellectual disability. Previous cases of pathological skeletal fractures in children with known SCN8a mutations have been published but the source of the related skeletal mechanism remains unclear.Presenting problem: The proband presented at 15mo...

Preclinical and epidemiologic data suggest that vitamin D deficiency may play a role in the pathogenesis and progression of prostate cancer. Based on recently reported genetic determinants of vitamin D insufficiency we investigated a functional T>G single nucleotide polymorphism (SNP) in the group-specific component (GC) gene for its association with 25-hydroxy (25-OH) vitamin D and 1.25 dihydroxy (1.25-OH) vitamin D levels and further to test a possible association with m...