Research advances in tibial insertion of posterior cruciate ligament and location of tibial tunnel / 中华创伤骨科杂志

Posterior cruciate ligament (PCL) plays an important role in maintaining the stability of knee. PCL injury is often accompanied by serious axial and rotational instability, and severe PCL injury is likely to be combined with injuries to the anterior cruciate ligament, medial collateral ligament and other tissues which are often repaired by necessary posterior cruciate ligament reconstruction (PCLR) to restore their physiological functions. However, PCLR research is not as common as the research into the anterior cruciate ligament reconstruction, not only due to controversies in the anatomy and mechanics of PCL but also due to a higher failure rate and more complications following PCLR. This situation is closely related to the anatomical characteristics of the PCL tibial insertion. The present review deals with the anatomy, mechanics and clinical research of the PCL tibial insertion in order to provide more references for PCLR operators.

Novel mutations p.Lys327X and p.Leu424CysfsX8 underlying congenital factor Ⅺ deficiency / 中华医学遗传学杂志

OBJECTIVE@#To analyze the phenotype and genetic mutations in a pedigree affected with factor Ⅺ (FⅪ) deficiency.@*METHODS@#Activated partial thromboplastin time (APTT), FⅪ activity (FⅪ:C) and FⅪ antigen (FⅪ:Ag) were determined for the proband and his family members. All exons and exon-intron boundaries of the FⅪ gene of the proband were analyzed by direct sequencing. Suspected mutation was verified in his family members.@*RESULTS@#The proband had APTT of 82.4 s, FⅪ:C of 0.8%, and FⅪ:Ag of T (Lys327X) mutation in exon 10 and c.1325delT (Leu424CysfsX8) mutation in exon 12 of the FⅪ gene. His elder sister, son, daughter, two granddaughters and one grandson were heterozygous carriers of the c.1033A>T mutation, while his older sister and younger brother were heteozygous carriers of the c.1325delT mutation. Analysis using Mutation Taster software showed that both p.Lys327X and p.Leu424CysfsX8 may affect the function of protein and lead to the corresponding disease.@*CONCLUSION@#The novel mutations of Lys327X and Leu424CysfsX8 of the the FⅪ gene probably underlie the pathogenesis of congenital coagulation factor Ⅺ deficiency in this pedigree.