Objective To discuss difficulties and techniques of standard video-assisted thoracoscopic or laparoscopic surgery(SVATS or SVALS) for spine internal fixation.Methods Between July 2004 and September 2005,6 cases of vertebral lesions located in the T_5～L_1 segment(including 2 cases of vertebral tuberculosis) were given SVATS under single-lung ventilation for resection of diseased vertebral body,reconstruction with autograft or titanium mesh cage,and fixation with the Z-plate system or the CD-Horizon system.Other 2 cases of vertebral tuberculosis located in the L_2～L_3 segment underwent retroperitoneal gasless SVALS for lesion debridement,reconstruction with autograft,and fixation with the Z-plate system.For cases of vertebral tuberculosis,(anti-tuberculosis) drugs were administrated preoperatively for 3 weeks and postoperatively for 6 months.Results The lesion debridement and anterior decompression was completed in all the 8 cases,including internal fixation with the Z-Plate system in 7 cases and with the CD-Horizon system in 1 case.There were 5 cases of iliac autografting and 3 cases of titanium mesh cage reconstruction.The operative time was 6.5~12.6 h(mean,8.7 h) and the blood loss during surgery was 250~1 800 ml(mean,950 ml).The correction of the Cobb angle was 5?~18?(mean,12?).During a follow-up period for 2~13 months(mean,7.4 months) in the 8 cases,nerve functions recovered by 1~2 Frankel grade in 5 cases,and the Cobb angle lost by 4? at 6 months postoperatively in 1 case of metastatic adenocarcinoma at the T_7 segment.Conclusions Spine internal fixation of T_5～L_3 segment can be conducted successfully with SVATS or SVALS.The key to the question is accurate orientation of the port site,proper hemostasis of the segment blood vessel,and careful resection of the anterior wall of the vertebral canal.

OBJECTIVETo investigate the clinical feature of a family with hereditary hemorrhagic telangiectasia (HHT), and to study the mutation of its related genes.

METHODSMedical histories of the family were analyzed to detect HHT patients according to the diagnostic criteria. ENG and ALK-1 genes of the proband and her two daughters were analyzed. DNA from the three patients' peripheral blood was extracted. The exons 2-10 and their intron-exon boundaries of ALK1 were amplified with PCR, and then the PCR products were sequenced and analyzed to identify the mutation.

RESULTSThere were 11 people in 41 family members of 4 generations were diagnosed as HHT. The proband and her two daughters suffered from multiple organ damage, the younger daughter appeared only imaging features instead of corresponding clinical symptoms. A missense mutation at the 1321 bp of cDNA (c.1321G>A) was detected in the exon 9 of ALK1, which resulted in valine 441 to methionine replacement in ALK-1 protein (p.Val441Met).

CONCLUSIONA Chinese family with HHT was studied and a missense mutation (c.1321G>A, p.Val441Met) of ALK-1 was discovered. This mutation is the genetic basis of the family with HHT and is reported for the first time in China. This research will not only help to further investigate molecular mechanism of pathogenesis of HTT, but also provide evidences and references for the following gene screening and genetic counseling on HTT family members.

Asian Continental Ancestry Group ; Base Sequence ; China ; Exons ; Genetic Predisposition to Disease ; Humans ; Introns ; Mutation ; Polymerase Chain Reaction ; Telangiectasia, Hereditary Hemorrhagic