Bone Abstracts

Background: The Ketogenic Diet Treatment (KDT) is a well-established intervention for intractable childhood epilepsy and the first choice treatment for Gluccose-1-transporter-deficiency-syndrome and Pyruvate-dehydrogenase-complex deficiency. During long-term follow up of children treated with KDT an increased incidence of bone fractures has been found. However, the exact contribution of KDT to a decreased BMD remains unclear. Prophylactic supplementation with calcium and vitam...

Background: Alkaline phosphatase (ALP) has an essential role in bone mineralization. ALP is attached to the surface of matrix vesicles (MVs) in which hydroxyapatite crystals are initially formed. Formation of a tentative collagen–ALP complex may be an early step in the calcification process. The present study was designed to investigate the binding properties of different ALPs to collagen present in bone and cartilage, i.e. types 1 and 2 collagen.Me...

Osteogenesis imperfecta (OI) is a heritable bone dysplasia with collagen-related defects. Dominantly inherited OI is caused by structural defects in type I collagen or IFITM5, while recessive forms are caused by deficiency of proteins that interact with collagen for modification, folding or cross-linking. We have identified the first X-linked form of OI, caused by a defect in regulated intramembrane proteolysis (RIP). One type of RIP involves sequential cleavage of regulatory ...

Periprosthetic osteolysis (PO) leading to aseptic loosening, is the most common cause of failure of total hip replacement (THR) in the mid- to long-term. Polyethylene (PE) particulates deriving from the wear of prosthesis liners are bioactive and are implicated in the initiation and progression of osteolysis. Evidence exists that cells of the osteoblast/osteocyte lineage respond to PE particles and contribute to the catabolic response by promoting osteoclastic bone resorption....

Background: Pediatric hypoparathyroidism is an orphan disease. Conventional management combines native and active vitamin D, calcium supplementation and sometimes phosphate binders. The use of teriparatide has been reported both in adults (daily or bi-daily subcutaneous infusions) and in children (rather continuous subcutaneous infusion) as second-line therapy.Methods: We present as median (min-max) the results of a retrospective single-centre review of ...