Avascular necrosis of the femoral head (ANFH) is a debilitating bone disease, characterized by collapse of the femoral head and subsequent loss of hip joint function. Heterozygous mutations in COL2A1 have been identified to cause familial ANFH. Here we report on a large Chinese family with ANFH and a novel heterozygous mutation (c.3517 G > A, p.Gly1173Ser) in exon 50 of COL2A1 in the Gly-X–Y domain. Previously, only five different COL2A1 mutations have been described in patients with familial ANFH. Therefore, our findings provide significant clues to the phenotype–genotype relationships in familial ANFH and may be helpful in clinical diagnosis. Furthermore, these results should assist further studies of the mechanisms underlying collagen diseases.
BackgroundWhile in vitro wear simulation of unicompartmental knee arthroplasty (UKA) showed outstanding long-term wear performance, studies reported that polyethylene (PE) wear was responsible for 12% fixed-bearing (FB) UKA failure. This paper aimed to quantify the in vivo 6-degrees-of-freedom (6-DOF) knee kinematics and contact positions of FB UKA during daily activities and compare with the previous results of in vitro wear simulator.MethodsFourteen patients following unilateral medial FB UKA received a CT scan and dual fluoroscopic imaging during level walking, single-leg deep lunge, and sit-to-stand motion for evaluating in vivo 6-DOF FB UKA kinematics. The closest point between surface models of the femoral condyle and PE insert was determined to locate the medial compartmental articular contact positions, which were normalized relative to the PE insert length. The in vivo contact area was compared with the in vitro wear region in previous simulator studies.ResultsThe in vivo contact positions during daily activities were more anterior than those in the previous in vitro wear simulator studies (p < 0.001). Significant differences in the femoral anteroposterior translation and tibial internal rotation during the stance phase were observed and compared with those in lunge and sit-to-stand motions (p < 0.05). The in vivo contact position located anteriorly and medially by 5.2 ± 2.7 and 1.8 ± 1.6 mm on average for the stance phase, 1.0 ± 2.4 and 0.9 ± 1.5 mm for the lunge, and 2.1 ± 3.3 and 1.4 ± 1.4 mm for sit-to-stand motion. The in vivo contact position was in the more anterior part during the stance phase (p < 0.05).ConclusionThe current study revealed that the contact position of FB UKA was located anteriorly and medially on the PE insert during in vivo weight-bearing activities and different from previous findings of the in vitro wear simulator. We should take in vivo 6-DOF knee kinematics and contact patterns of FB UKA into account to reproduce realistic wear performance for in vitro wear simulator and to improve implant design.
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