Bone Abstracts

Nacre, or mother of pearl, is a promising natural biocompatible biomaterial consisting of aragonite (97%) and of organics (3%) and capable to increase the cell osteogenic activity. It has been established that osteoarthritic osteoblasts present a mineralization defect and, to date, only a few molecules (vitamin D3 and bone morphogenetic protein2) could improve the mineralization potential of this cell type. In this context, we evaluated the impact of nacreous molecules on the ...

Nacre is able to induce bone-forming cells mineralization, and gains widespread interest in bone regeneration. While, the osteoinductive compounds are not identified yet. The nacre extract, ethanol soluble matrix (ESM), was proven having the capacity to induce the mineralization of mouse MC3T3-E1 cells and to restore mineralization defect in human osteoarthritic osteoblasts. Being tested on the two cells, ESM could induce the formation of mineralization nodules, identified as ...

Autoimmune hepatitis (AIH) is an immune-mediated chronic inflammatory disease of the liver of unknown origin, that suddenly appears in previously healthy, normally growing children. Standard therapy is long-term prednisone, aimed at avoiding progression to cirrhosis. Considering the inflammatory origin of the disease and the long-term steroid therapy, negative consequences for bone health can be expected, but no data on this complication have been published until now.<p cl...

Background: Trisomy 9p is a rare abnormality caused by duplication of the short arm of chromosome 9. Translocation t(9;11) is a rarer variant. Both anomalies are compatible with long survival. Clinical manifestations are very variable, and include short height, mental retardation, hypertelorism, strabismus, foot/hand anomalies, delayed bone maturation. Low bone mineral density (BMD) or fragility fractures have never been reported.Presenting prob...

Introduction: Cherubism is a rare pediatric disease with a maxillofacial localization caused by mutations of the SH3BP2 gene. Pathogenesis is well described in the Sh3bp2 KI mouse model that presents a systemic inflammatory and bone phenotypes maintained by TNFα and due to the presence of hypersensitive myeloid precursors. In human, the disease is usually described as a maxillofacial exclusive disease. The aim of our study was to explore the systemic phe...

Cherubism is a rare genetic disease (OMIM #118400) characterized by a massive jaw bone osteolysis. This pathology appears around 2–5 years old and in the less severe cases spontaneously regresses after puberty. So far the only treatment available is surgery, often disabling and traumatic. As the cherubism pathophysiology is not yet understood, we carried out a thoroughly characterization of the cherubism granulomas from ten unrelated patients to determine the cells involv...

Osteogenesis imperfecta is a clinically heterogeneous heritable connective tissue disorder. Most OI cases are due to mutations in type I collagen genes, COL1A1 and COL1A2 encoding the pro-alpha1(I) and pro-alpha2(I) chains respectively. However, genotype-phenotype correlation has not been completely elucidated yet. In this study we evaluated a familial case including a mother and a daughter, classified as OI type I. The daughter had more severe clinical featu...

Osteogenesis imperfecta is a clinically heterogeneous heritable connective tissue disorder. Most OI cases are due to mutations in type I collagen genes, COL1A1 and COL1A2 encoding the pro-alpha1(I) and pro-alpha2(I) chains respectively. However, genotype–phenotype correlation has not been completely elucidated yet. In this study we evaluated a familial case including a mother and a daughter, classified as OI type I. The daughter had more severe clinical ...

We performed a prospective study on 440 young patients (aged 3–20 years), affected by various chronic diseases (cystic fibrosis; juvenile idiopathic arthritis; nephrotic syndrome; systemic lupus erythematosus; Duchenne muscular dystrophy; autoimmune hepatitis; transplants; etc.), with periodical bone mineral density (BMD) evaluations with DXA, for 3–14 years (7.8±6.2).266 patients were on long-term treatment with glucocorticoids (GCs); amo...

Chronic recurrent multifocal osteomyelitis (CRMO) is a rare, auto-inflammatory disorder of unknown cause that affects children and adolescents. CRMO is characterized by periodic bone pain, fever, multiple bone lesions occurring at any skeletal site, even if the metaphyseal area of long bones, clavicle and shoulder girdle are the most common locations. Dermatological manifestations include psoriasis, acne and pustules. The clinical and radiological features of the disease are v...