Objective. To identify the genetic abnormality responsible for osteoarthritis (OA), avascular necrosis (AVN) of the femoral head, and Legg-Calvé-Perthes disease in a single family, and to determine factors responsible for the distinct phenotypes manifested by different family members.Methods. Forty-two members of a 5-generation family were recruited and investigated. Diagnosis was made by independent orthopedic surgeons and radiologists. Histopathologic changes of the diseased tissue were examined. Linkage analysis was performed with markers spanning the COL2A1 locus. Haplotypes were constructed and mutation of the gene was detected.Structures of the wild-type and mutant proteins were modeled.Results. Sixteen affected members were identified (5 with isolated precocious hip OA, 6 with AVN of the femoral head, and 5 with Legg-Calvé-Perthes disease). A p.Gly1170Ser mutation of COL2A1 cosegregated with the 3 diseases and was absent in controls. Of note, age at onset in relation to the closure status of the femoral head epiphysis was associated with the diseases, with Legg-Calvé-Perthes disease presenting prior to closure (at ages 6-14 years), AVN of the femoral head presenting during closure (at ages 15-18 years), and precocious OA of the hip presenting after closure (at ages 21-34 years). Molecular modeling predicted that the serine-toglycine substitution loosens the helical structure of the protein.

No abstract

No abstract

No abstract

Conventional porous-coated joint prostheses used in hip and knee reconstruction have demonstrated good clinical results, however, these implants possess some inherent shortcomings such as low volumetric porosity, suboptimal frictional characteristics, and higher modulus of elasticity relative to that of bone. Porous tantalum, a novel porous biomaterial was developed to address these limitations. Extensive laboratory studies have revealed that porous tantalum has physical, mechanical and tissue in growth properties that makes it a potentially improved biomaterial particularly in complex joint reconstructions. Porous tantalum is a highly porous biomaterial with good biocompatibility, excellent corrosion resistance, and high coefficient of friction. The short term clinical results of porous tantalum in primary hip, revision hip, and knee reconstructive surgery are encouraging but further studies will be needed to determine whether the theoretical advantages of porous tantalum can provide long term biological fixation and stability. This review presents the biomaterial properties and clinical results of porous tantalum devices in hip and knee reconstructive surgeries.