Identifying of the ERCC8 gene mutations in a pedigree with Cockayne syndrome / 中华检验医学杂志

Objective To identify the pathogenesis gene mutation of a pedigree with Cockayne syndrome.Methods The peripheral blood samples of the patient and his family members were collected and the genomic DNA was then extracted.Whole exome sequencing(WES)was performed for proband′s DNA.The disease-causing mutations were identified by bioinformatics analysis and pedigree analysis. Meanwhile,the mutations were confirmed by Sanger sequencing.Results Two novel mutations in ERCC8 gene,including c.400-2A >G and c.394_398delATGTA(p.L132fs)were identified in proband.The splicing mutation originated from his father and changed the splice acceptor site AG to GG, thus possibly caused alternative splicing.The c.394_398delATGTA(p.L132fs)frameshifting mutation was inherited from his mother.The proband′s sister also carried the same compound heterozygous mutation and had the same phenotype as proband.Conclusion The pathogenesis ERCC8 gene mutation of this pedigree with Cockayne syndrome was identified by using whole exome sequencing.

Posterior cruciate ligament reconstruction using a double-bundle hamstring graft under a knee arthroscopy: Detail and effect analysis / 中国组织工程研究

OBJECTIVE: structure and biomechanics studies of posterior cruciate ligament (PCL) demonstrated that double-bundle hamstring graft has similar function to healthy PCL. semitendinosus and gracilis can stabilize knee joint by preventing anterior tibial displacement. Therefore, the aim of this paper is to evaluate the efficacy of construction a PCL using semitendinosus and gracilis bundles.METHODS: Nine patients who were underwent double bundle PCL reconstruction from March 2006 to December 2007, and received a more than 18 months follow-up, were collected, including 8 males and 1 female, aged 21-42 years. Four patients were suffered simple PCL injury,and the other 5 patients combined with meniscus injury. Two tunnels of 5 mm diameter was made in the femoral attachment site of PCL, one tunnel of 8.0 mm diameter was made in the tibial attachment site of PCL. The anterior bundle was reconstructed using semitendinosus tendon, and the posterior bundle was reconstructed using the gracilis tendon. We reserved the attachment of the semitendinosus and gracilis tendon outside of tibial tunnel, and tied a knot using tendens outside of femoral tunnels. No internal fixation was needed. Posterior drawer test was performed in 30.60 and 90 degrees of flexion of the knee joint, and Lysholm rating system was used to determine the function of the knee and the patient's level of activity. RESULTS: Nine patients were included in the final analysis. Prior to operation, posterior drawer test in 30, 60 and 90 degrees of flexion was positive in all 9 cases. However, at 18 months after operation, posterior drawer test in 30, 60 and 90 degrees was negative in 8 cases, only 1 patient had positive posterior drawer test in 30 degrees. The mean Lysholm score was 55 points (45-68points) prior to operation, which was 88 points (78-94 points) postoperatively. The excellent and good results were obtained in 89%.CONCLUSION: Double bundle reconstruction of the PCL mimics more closely to the natural behavior of the normal PCL, which can restore normal knee laxity across the full range of motion. However, the cases were limited, so the prostecdtive efficacy needs to be followed up.