Bone Abstracts

Objectives: Marfan syndrome (MFS) is a connective disorder caused by mutations in FBN1 gene which encodes the extracellular matrix protein fibrillin 1. Pathogenesis relies on a dysregulation of activated TGF-β. Cardiovascular, ocular and skeletal systems are involved with a variable expressivity. Findings evolve with age, making the diagnosis in children more difficult. Skeletal involvement includes disproportionate long bone overgrowth, scoliosis, and chest deformity. Al...

Objectives: Congenital adrenal hyperplasia (CAH) is a rare condition characterized by the inability of the adrenal gland to produce cortisol. The classical form is due to the deficit of 21-hydroxylase activity (21-OHD) and it accounts for 90–95% of all CAH cases. Treatment of CAH patients consists of life-long glucocorticoid therapy, which must be dosed carefully to avoid excessive or insufficient adrenal suppression. There are data showing low bone mineral density (BMD) ...

Objectives: Impairment of bone mass accrual and alterations of bone metabolism is a common finding in HIV-infected youths. In particular, previous studies demonstrated higher bone formation and bone resorption rates in HIV-infected children and adolescents. Wnt ligands promote bone formation by stimulating osteoblast differentiation and their survival. Recent studies demonstrated that sclerostin (Scl) and dickkopf factor 1 (DKK-1), Wnt antagonists, are important negative regul...