Objective To explore the feasibility of Video-Assisted Thoracic Surgery(VATS)in the treatment of mediastinal diseases. Methods 39 patients underwent VATS for mediastinal diseases from May 1994 to February 2002.There were 20 males and 19 females with a mean age of 44.9 years(range 25～75 years).13 patients with thymoma,2 patient with invasive thymoma,10 patients with neurogenic benign tumor,3 patients with esophagus cyst,3patients with bronchus cyst,2 patient with pericardial cyst,1 patient with teratoma and 5 patients with other conditions were included in the study.General anesthesia,double lumen endotracheal tube placement and single lung ventilation were used.The patients were placed in the lateral decubitus position with 15? slope forward for posterior mediastinal mass or with 15?～30? slope backward for anterior mediastinal mass.The camera port was placed in the sixth or the seventh intercostal space between the anterior anxillary line and posterior anxillary line.Two or three ports placed according to the site of the tumor permitted an adequate working distance that maximized the range of dissection within the chest.Mini-invasive thoracotomy combined with VATS were performed for some patients when the solid tumor was more then 5 cm in diameter or when it was closely adhesire to surrounding organs Results All patients recovered uneventfully.36 patients underwent tumor removal by VATS alone and 3 patients received mini-invasive thoracotomy combined with VATS performance.The overall incidence of postoperative complication and mortality rate were 0. Conclusions VATS is a safe and effictive technique in the selective patients with mediastinal masses.

ObjectiveTo investigate the molecular pathogenesis of a pedigree of X-linked spondyloepiphyseal dysplasia atarda (SEDL) and to establish methods of gene diagnosis. Methods Clinical diagnosis was made based on height measurement, radiological examination and pedigree analysis. Peripheral blood samples of relevant family members were collected. After genomic DNA extraction, single strand conformation polymorphism (SSCP) followed with DNA sequencing was used to detect SEDL gene exons 36. Microsatellite marker DXS16 was selected for linkage analysis. Results The abnormal electrophoretic bands were detected in exon 4 of probands by PCR-SSCP. A c. 218C ＞ T mutation in exon 4 of SEDL gene was found in three probands, which resulted in a change in amino acid sequence S37L. The heterozygous exon 4 mutation was identified in three carriers, but not in healthy individuals, and no mutations were detect in exon 3, 5 and 6 of probands. Three unmarried young females (Ⅲ10, Ⅳ6 and Ⅳ7) were found to harbor the mutation by DNA sequencing analysis. ConclusionsA c. 218C ＞ T missense mutation in exon 4 of SEDL gene is the cause of molecular pathogenesis of the pedigree. SSCP and DNA sequencing can be used for prenatal gene diagnosis.

Objective To assess early and medium outcomes of pathologic N2 disease unexpectedly detected in patients undergoing total video-assisted thoracic surgery lobectomy for non-small cell lung cancer.Methods Between Sep.2006 and Dec.2010,348 patients with Non-small cell lung cancer underwent total video-assisted thoracic surgery lobectomy,and within them,35( 10.1％ ) were found to have pathologic N2 disease after operation.We retrospectively reviewed the clinical and pathologic features of patients with unexpected N2 disease after video-assisted thoracic surgery lobectomy and their early and medium outcomes,including survival and recurrence pattern.Results No perioperative mortality was noted.26 patients received a lobectomy directly,and the other 9 patients after a wedge resection.All the patients had R0 resection.The medium operation time was 190 minutes and medium blood loss was 200ml.The medium stations and numbers of dissected N2 lymph nodes in operation were 4 and 10,respectively.And the medium stations and numbers of metastatic N2 Lymph nodes were 1 and 2,respectively.Among patients with pathologic N2 disease,18 (51.4％) had single-station involvement.The median duration of chest tube placement was 8 days.The median length of hospital stay was 11 days.15 complications occurred in 12 (34.3％) patients.All of the patients underwent adjuvant chemotherapy with platinum postoperatively.The median follow-up time was 23 months.The 1 - and 2-year overall survival (OS) was 80.9％ and 67.9％,and the medium OS was not reached.During follow-up,16 (45.7％) patients had a recurrence.The pattern of recurrence was locoregional in 5,distant in 11.The 1 - and 2-year disease-free survival (DFS) was 71.9％ and 44.2％,and the medium DFS was 20 months (95％,8.1 to 31.9 months).Divided the patients with pathologic N2 disease into two groups considering single-station involvement or not,the 1-and 2-year OS and DFS for the single-station group and for the multiple-station group were 87.7％,78.9％ ; 88.9％,49.4％and 67.6％,59.1％ ; 55.3％,39.5％.The medium DFS for both the two groups was 23 and 16 months respectively.Conclusion For non-small cell lung cancer with N0 disease confirmed by an exactly preoperative staging workups,if it is feasible in technology,a total video-assisted thoracic surgery lobectomy should be recommended.Even if N2 lymph node metastasis is unexpectedly detected postoperatively,the metastasis was mostly micro- or single-station involved,and a similar outcome with conventional thoracotomy can be achieved.

Objective:To evaluate salvage surgery in patients with early gastric cancer after noncurative endoscopic resection .Method:A total of 56 cases with early gastric cancer receiving salvage surgery after noncurative endoscopic resection were enrolled and the clinicopathological and follow-up information were analyzed to evaluate the necessity and safety of salvage surgery.Results:Among the 44(79%)patients with submucosal invasion, 38 (68%) were with SM2 (invasion submucosal invasion≥500 μm) according to the pathological results after endoscopic resection. 33 (59%)cases had positive margin. The rate of lymph node metastasis and positive residual tumor as found by salvage gastrectomy were 11% (6/56) and 25% (14/56) . In the multivariate analysis, deeper submucosal invasion resulted as independent risk factor for residual tumor( OR=1.001, 95% CI=1.000-1.002, P=0.036). Among the 12(21%)cases with postoperative complications, 3 (5%)underwent unplanned reoperations because of anastomotic or intra-abdominal bleeding. There was no difference in the number of retrieved lymph nodes and rate of postoperative complications between laparoscopic and open surgery(all P>0.05). Conclusion:For patients with the risk factors of lymph node metastasis after noncurative endoscopic resection, salvage surgery was necessary and laparoscopic approach was safe and feasible.

Objective To assess the prognostic benefits of intraoperative radiotherapy (IORT) with electron beam among patients with unresectable locally advanced pancreatic cancer.Methods Between January 2009 and December 2014,167 patients with unresectable locally advanced pancreatic cancer received IORT with electron beam (10-20 Gy) in our hospital.After surgery,12 patients were treated with external beam radiotherapy,56 patients with chemoradiotherapy (CRT),and 17 patients with chemotherapy.Overall survival (OS),local recurrence,and toxicities were retrospectively analyzed.The Kaplan-Meier method was used to calculate survival rates,the log-rank test was used for survival difference analysis and univariate prognostic analysis,and the Cox model was used for multivariate prognostic analysis.Results The follow-up rate was 100％.The median OS time was 10.3 months,and the 2-year OS rate was 22％.The median progression-fiee survival (PFS) time was 6.3 months,and the 2-year PFS rate was 9.9％.The cancer-specific survival (CSS) time was 11.2 months,and the 2-year CSS rate was 23.6％.In the patients treated with IORT alone at doses of＜15 Gy,15 Gy and＞15 Gy,the median OS times were 6.2 months vs.9.1 months vs.22.2 months,and the 1-year OS rates were 10.0％ vs.39.6％ vs.74.4％ (P=0.000).Among the patients receiving postoperative adjuvant therapy,those treated with IORT+CRT had the best survival,with a median OS time of 11.6 months (P=0.033).The univariate analysis showed that IORT dose (P =0.000),tumor size (P =0.006),and IORT applicator diameter (P =0.007) were prognostic factors.The multivariate analysis showed that IORT dose (P=0.000) and IORT combined with CRT (P=0.006) were independent prognostic factors.Conclusions IORT with electron beam is an effective and safe treatment strategy for unresectable locally advanced pancreatic cancer.After protecting surrounding organs,increasing the IORT dose can improve the survival.IORT combined with CRT should be recommended because it improves survival for unresectable locally advanced pancreatic cancer without increasing toxicities.

OBJECTIVETo identify the gene causing hereditary multiple exostoses in a Chinese pedigree.

METHODSLinkage analysis was carried out in the family using microsatellite markers close linkage to the EXT1 and EXT2 genes to define the candidate gene. Then the whole coding sequence and the intron-exon boundaries of the candidate gene were amplified and sequenced.

RESULTSThe disease-causing gene of the family was linked to the EXT2 gene. A nonsense mutation of 536G>A in exon3 of the EXT2 gene was detected, which was co-segregated with the disease phenotype. The mutation resulted in a stop codon in codon 180. A nonpenetrant case was found in the family.

CONCLUSIONThe mutation 536G>A in the EXT2 gene is the disease-causing mutation in the pedigree with hereditary multiple exostoses.

Adolescent ; Adult ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Child ; Child, Preschool ; China ; Codon, Nonsense ; Exostoses, Multiple Hereditary ; genetics ; Female ; Humans ; Infant ; Male ; Molecular Sequence Data ; N-Acetylglucosaminyltransferases ; genetics ; Pedigree ; Young Adult

Objective To report a multi-center series of 600 consecutive cases of completely video-assisted thoracoscopic lobectomy with 3-year follow-up results. Methods Data from 600 consecutive patients who underwent attempts for thoracoscopic lobectomy between September 2006 and August 2010 in Peking University People's Hospital, Jiangsu Cancer Hospital and Beijing Haidian Hospital were collected. Of these, 315 males (52.5%) and 285 females (47.5%), the average age was ( 59.1 ± 12.6 ) years( 15 - 86 years). Perioperative variables were assessed using standard descriptive statistics and 3-year survival was estimated by Kaplan-Meier analyses. Results One hundred and nineteen cases were diagnosed as benign disease and 481 cases were malignancy. 68.9% (82/119) of the benign cases were chronic infectious disease and the majority of the malignancy was non-small cell lung cancer, especially adenocarcinomas which comprised 65.9% (317/481) of all malignancies.Fifty-four cases required conversion to thoracotomy with a conversion rate of 9%. Of the VATS accomplished group, the median operation time was 180 min(30 -40 min), median blood loss 200 ml( 10 - 1500 ml) . Benign surgery took significantly less time, had shorter drainage time and hospitalization time, and lower morbidity than that for malignancies ( P = 0.001, P ＜0.01, P = 0.004, P = 0.020, respectively). Non-small cell lung cancer patients had a 3 -year survival of 85.4%, and pathologic stage Ⅰ patients 91.2%. Conclusion This largest case series and the first report 3-year survival in China confirms that completely thoracoscopic lobectomy surgery we performed have reached short- and middle-term standards compared with that of the western country.

OBJECTIVETo determine the origin of chromosomal aberration for a girl with mental retardation and multiple congenital deformities.

METHODSThe karotypes of the girl and her parents were analyzed with routine G-banding .Their genomic DNA was also analyzed with array comparative genomic hybridization (aCGH). Short tandem repeats (STR) were used to confirm the results of aCGH.

RESULTSThere were no karyotypic abnormality detected at cytogenetic level. aCGH identified a de novo 1.28 Mb deletion at 2p15-p16.1 in the girl. The results of the STR confirmed the deletion affected the maternal chromosome.

CONCLUSIONThe de novo interstitial 2p15-p16.1 deletion may cause the mental retardation and multiple congenital deformities. chr2:60.5-61.5 Mb may be the minimal common region of 2p15-p16.1 microdeletion syndrome.

Abnormalities, Multiple ; diagnosis ; genetics ; Adolescent ; Chromosome Banding ; Chromosome Deletion ; Chromosome Disorders ; diagnosis ; genetics ; Chromosomes, Human, Pair 2 ; genetics ; Comparative Genomic Hybridization ; methods ; Female ; Humans ; Intellectual Disability ; diagnosis ; genetics ; Microsatellite Repeats ; genetics ; Phenotype ; Syndrome

OBJECTIVETo evaluate the value of intraoperative fine needle aspiration cytology (IFNAC) examination in the diagnosis of pancreatic lesions.

METHODSThe clinicopathological data of 491 patients with pancreatic lesions treated in our hospital from May 1998 to June 2013 were retrospectively analyzed. Their clinical features, IFNAC findings, pathological results after IFNAC examination and related complications were summarized. The factors affecting the aspiration biopsy accuracy were analyzed using logistic regression and multi factor analysis.

RESULTS491 patients with pancreatic lesions were examined by IFNAC. Among them, cancer cells were found in 434 cases (positive), and were not found in 57 cases (negative). Among the 310 cases who underwent surgical operation, postoperative pathology confirmed 209 cases of pancreatic ductal adenocarcinoma, 8 cases of pancreatic cystadenocarcinoma, 23 cases of solid pseudopapillary tumor of the pancreas, 15 cases of pancreatic neuroendocrine tumor, 14 cases of intraductal papillary mucinous tumor, 2 cases of primary pancreatic gastrointestinal stromal tumor, 17 cases of pancreatic serous cystadenoma, and 22 cases of chronic mass-forming type pancreatitis. The IFNAC test showed a sensitivity of 97.9% (425/434), and specificity of 89.5% (51/57). The IFNAC examination-related complications were pancreatic leakage in a total of 12 patients which were cured after treatment. No bleeding complication was observed. Logistic multivariate analysis showed that tumor size, cystic degeneration, lymph node metastasis and associated chronic pancreatitis are independent factors affecting the IFNAC examination of pancreatic carcinoma.

CONCLUSIONSIFNAC examination has a high sensitivity and specificity, and with a good safety in clinical use. IFNAC can be used as a powerful tool for the diagnosis of pancreatic cancer, with a high clinical value in use. In the cytology-negative cases, cytology alone can not rule out the diagnosis of pancreatic cancer. Through repeated sampling and combined with intraoperative frozen section pathology can improve the diagnostic accuracy.

Biopsy, Fine-Needle ; Biopsy, Needle ; Carcinoma, Pancreatic Ductal ; diagnosis ; pathology ; Cystadenoma, Serous ; diagnosis ; pathology ; Frozen Sections ; Humans ; Pancreas ; pathology ; Pancreatic Neoplasms ; diagnosis ; pathology ; Retrospective Studies ; Sensitivity and Specificity

OBJECTIVETo investigate the complications in intra-operative radiotherapy (IORT) for patients with local advanced pancreatic cancer.

METHODSThe clinical data, operation material, overall dose of IORT, postoperative therapy, complications, treatment and prognosis were retrospectively analyzed in all the in-hospital pancreatic cancer patients from Nov 2008 to Jan 2012.

RESULTSThere were 115 patients with local advanced pancreatic cancer treated with IORT in this study. 81 cases had a tumor in the head of pancreas and 34 cases in the pancreatic body and tail. The operation method was IORT combined with internal drainage surgery. The intra-operative radiotherapy was performed using Mobetron mobile electron accelerator, with a total dose of 12-20 Gy. Bilioenteric anastomosis and/or gastrointestinal anastomosis were included in the internal drainage surgery. Gastroparesis syndrome (10.4%), hemorrhage (3.5%), abdominal infection (2.6%), pancreatic fistula (0.9%) and renal failure (1.7%) were the common postoperative complication of IORT. All patients were cured except one who died of digestive tract hemorrhage.

CONCLUSIONSMajor complications of IORT are gastroparesis syndrome, abdominal infection and hemorrhage. The incidence of gastroparesis syndrome is at the top of the list. However, early complications have a relatively better prognosis, indicating that IORT is a safe and reliable therapy for patients with locally advanced pancreatic cancer.

Combined Modality Therapy ; Humans ; Pancreatic Neoplasms ; radiotherapy ; Radiotherapy Dosage ; Retrospective Studies