ObjectiveTo evaluate the safety and feasibility of the tracheal stent implantation for treatment of malignant tracheal stenosis under general anaesthesia. Methods Eighteen patients with malignant tracheal stenosis underwent preoperative 64-slice spiral CT scan and airway reconstruction. The stenotic sites were located in main tracheal trunk(5 patients),in right main bronchus( 1 patient),in trachea and left main bronchus (4 patients),in trachea and right main bronchus (3 patients),in main tracheal trunk and bilateral main bronchus(5 patients).The degree of stenosis was rated 51％ to 70％ in 7 cases,71％ to 90％ in 11 cases.All patients,17 patients of ASA grade 1V and 1 patient of grade Ⅲ,presented with severe dyspnea. Under general anaesthesia,implantation of metallic stent was performed through the sputum aspiration hole of the connecting tubing with DSA guidance.The NBP,ECG,RR,SaO2 of the patients were recorded and compared with t test during the entire procedure. At the end of the procedure,relief of dyspnea,complications related to anesthesia and operation were recorded. Results The success rate of stent placement was 18/18,and dyspnea was significantly relived in all patients. Slightly bloody sputum occurred in 7 cases.The stent was obstructed by sputum in 1case,and the patient was treated with medication.There were no severe complications.The operative course were rated 11 to 9 in 17 cases,and 6 to 8 in 1 case.All 18 patients were cooperative during the procedure.Sixteen patients rated the procedure as very comfortable and 2 rated the procedure as comfortable.Respiratory rate (RR) and heart rate (HR) decreased in all patients after the operation [ ( 37.1 ± 2.8 )/min and ( 106.5 ± 14.2 ) bpm before the operation respectively,( 18.6 ± 1.4)/min and ( 73.2 ± 7.6) bpm after the operation respectively ],t =17.81 and 3.80,P ＜ 0.01.Pulse oxygen saturation ( SaO2 ) during the operation [ ( 91.2 ± 1.8 ) ％ ]increased [ (76.3 ± 8.6 )％ before the operation ] and increased further after the operation [ (94.5 ±4.3 ) ％ ],t =2.06 and 2.26,P ＜ 0.01.Blood pressure (BP) showed no changes throughout the operation (P ＞ 0.05 ).The conprehensive assessment of operation were favorable in all patients. Conclusion With careful preoperative evaluation and planning, tracheal stent implantation under general anaesthesia in patients with malignant tracheal stenosis is feasible and safe.

This study evaluated the change in regional left ventricular myocardial function in rats following acute occlusion of the left anterior descending coronary artery (LAD) by using two-dimensional speckle tracking imaging (2D-STI). Sixty Wistar rats were randomly divided into two groups, a myocardial infarction (MI) group, in which 50 rats were subjected to LAD occlusion for 30-45 min, and a sham-operated (SHAM) group that contained 10 rats serving as control. Echocardiography was performed at baseline and 1, 4 and 8 week(s) after the operation. High frequency two-dimensional images of left ventricular short axis at papillary muscle level were recorded. Peak systolic radial strain (PRS) and circumferential strain (PCS) were measured in the mid-ventricle in short-axis view by using EchoPAC workstation. Left ventricular internal diameter at diastole (LVIDd) and systole (LVIDs), fractional shortening (FS), ejection fraction (EF) and left ventricular mass (LVM) were measured by anatomical M-model echocardiography. Infarct size was measured using triphenyl tetrazolium chloride (TTC) staining 1 week and 8 weeks after the operation. Fibrosis of left ventricular myocardium was displayed using Van Gieson staining 1 week after the infarction. In terms of the TTC staining results, the left ventricle fell into three categories: infarcted, peri-infarcted and remote myocardial regions. Compared with those at baseline and in the SHAM group, (1) PRS and PCS in the infarcted, peri-infarcted and remote myocardial regions were significantly decreased in the MI group within 1 week after the operation (P<0.05) and the low levels lasted 8 weeks; (2) Compared with those at baseline, LVIDd, LVIDs, FS, EF and LVM in the MI group showed no significant difference 1 week after the operation (P>0.05). However, LVIDd, LVIDs and LVM were increased significantly 4 and 8 weeks after the operation (P<0.05), and FS and EF were decreased substantially (P<0.05). Van Gieson staining showed that fibrosis developed in all the three myocardial regions to varying degrees. It is concluded that 2D-STI is non-invasive and can be used to assess regional function of myocardium with different blood supply in rats following acute occlusion of the LAD, and can be used as a sensitive and reliable means to follow up the process of left ventricular remodeling.

Antineoplastic Agents ; therapeutic use ; Carcinoma, Non-Small-Cell Lung ; drug therapy ; genetics ; Drug Delivery Systems ; Erlotinib Hydrochloride ; Female ; Genes, erbB-1 ; Humans ; Lung Neoplasms ; drug therapy ; genetics ; Male ; Mutation ; Protein Kinase Inhibitors ; therapeutic use ; Quinazolines ; therapeutic use ; Receptor, Epidermal Growth Factor ; antagonists & inhibitors ; genetics

OBJECTIVETo study the mutation patterns of epithelial growth factor receptor (EGFR) exon 18, 19 and 21 in Chinese non-small-cell lung cancers (NSCLC).

METHODSSomatic mutation in samples of 32 cases without Iressa-treatment were compared with that in 10 volunteers blood control. The mutations were identified for the forward and reverse sequence chains for the tyrosine kinase domain of the EGFR gene, followed by DNA template abstraction and Touchdown PCR.

RESULTSNine types of mutation were found in sequences of 7 cases among the 32 non-small cell lung carcinoma tissues, namely, five reported mutation within exon 19, and two new heterozygous mutations, L833V and H835L within exon 21, and two intron polymorphism. These results showed a mutation rate of 9/32 (28.1%) in Chinese with NSCLC, and of 31.6% in lung adenocarcinomas.

CONCLUSIONEGFR mutation rate in Chinese with NSCLC is consistent with those of Asian women reported in the literature but new mutation points in Chinese were presented as L833V and H835L. The mutation rate is in concordance with release rate of NSCLC obtained by Gefitinib treatment in Chinese.

Adenocarcinoma ; genetics ; Adult ; Aged ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Carcinoma, Non-Small-Cell Lung ; ethnology ; genetics ; China ; DNA Mutational Analysis ; Exons ; genetics ; Female ; Humans ; Lung Neoplasms ; ethnology ; genetics ; Male ; Middle Aged ; Mutation ; Receptor, Epidermal Growth Factor ; genetics

OBJECTIVE: To explore the clinical features and genetic basis of two children with glycogen storage disease type III (GSD III). METHODS: The probands and their parents were subjected to genetic testing, and the pathogenity of candidate variants was analyzed by using bioinformatic tools. RESULTS: Sequencing has identified compound heterozygous variants of the AGL gene in both children, namely c.1423+1G>A and c.3701-2A>G in case 1, and c.4213_c.4214insA (p.Glu1405Glufs*17) and c.3589-3C>G in case 2. Both children were diagnosed with GSD III. Literature review suggested that the main type variant among Chinese patients with GSD III involve splice sites of the AGL gene, with c.1735+1G>T being the most common. Based on the American College of Medical Genetics and Genomics standards and guidelines,c.1423+1G>A, c.3701-2A>G and c.4213_c.4214insA variants of AGL gene were predicted to be of pathogenic (PVS1+PM2+PM3, PVS1+PM2+PM3, PVS1+PM2+PP5), and c.3589-3C>G variant was predicted to be of uncertain significance (PM2+PM3+PP3). CONCLUSION The compound heterozygous variants of the AGL gene probably underlay the GSD III in both children. Above findings have enriched the spectrum of genetic variants underlying this disease.
Child ; Genetic Testing ; Genomics ; Glycogen Storage Disease Type III/genetics* ; Humans ; Mutation

Objective To investigate germline mutation of breast cancer susceptibility genes BRCA1/2,TP53 and PTEN in Chinese breast cancer patients. Methods All of128 female breast cancer patients in Peking University People′s Hospital from January 2016 to August 2018 were selected as objects. Among them,44 cases were sporadic breast cancer and 84 werebreast cancer patients with genetic high risks. Germline mutations of BRCA1,BRCA2,TP53 and PTENwere detected by NGS.χ2 test was used to analyze the difference of pathogenic mutation rates between sporadic breast cancer group and breast cancer with high genetic risks.Groups were divided according to the clinical features of the patients(family history, triple-negative breast cancer,age and bilateral breast cancer).Among them,there were 42 cases with family history of breast cancer,34 cases of triple-negative breast cancer,33 cases of early-onset breast cancer and 7 cases of bilateral breast cancer. Fisher′s exact probability test compared the relationship between pathogenic mutations of BRCA1/2 gene and clinical characteristics of breast cancer patients with hereditary risk factors. Results In 128 cases of breast cancer,30 germline mutations of BRCA1/2 were detected, including 13 pathogenic mutations and 3 newly discovered mutations(BRCA1:c. 4760C>G,BRCA2:c. 44134414del and BRCA2:c. 64826485del). The new mutations may be unique mutations of Chinese population. There were 3 cases of TP53 mutations,including 1 pathogenic mutation. All of the 3 mutations were found in early-onset breast cancer. Germline mutation of T53 has important detection significance for early-onset hereditary breast cancer. There were 5 cases of PTEN mutations,including 3 pathogenic mutations. Among 84 breast cancer patients with genetic high risks,the carry mutation rate was 40.5％(34/84)and the pathogenic mutation rate was 15.4(13/84). Among 44 sporadic cases,the carry mutation rate was 9％(4/44). The pathogenic mutation rate was 6.8％(3/44). Breast cancer susceptibility genes were carried at a higher rate in breast cancer patients with genetic high risks(P<0.001). BRCA1/2 mutations did not show statistical differences among groups of breast cancer patients with hereditary high risk factors . Conclusion Germline mutation detection of breast cancer susceptibility genes by next-generation sequencing is of great significance in breast cancer risk prediction and prognosis evaluation.

OBJECTIVE: To evaluate the short and mid-term changes of the cardiac morphology after percutaneous transcatheter closure of ventricular septal defects (VSD) with transthoracic echocardiography (TTE). METHODS: The left ventricular end-diastolic diameter (LVEDD), left ventricular end-diastolic volume (LVEDV), left atrial diameter (LAd), and right ventricular diameter (RVd) in 30 VSD patients were measured before the VSD closure,and on the 3rd day, 3rd month, and 6th month after the VSD closure by TTE. RESULTS: LVEDD and LVEDV significantly decreased on the 3rd day after the VSD closure compared with pre-VSD closure. LVEDD and LVEDV continuously decreased on the 3rd month and 6th month after the VSD closure. LAd was smaller on the 3rd month and 6th month after the VSD closure, but there was not significant difference between the 3rd and 6th month. RVd increased on the 3rd day after the VSD closure, while no significant difference was found among the 3rd month and 6th month before and after VSD closure. CONCLUSION Percutaneous transcatheter VSD closure may effectively improve the cardiac remodeling in VSD patients in the short and mid-term follow-up.
Adolescent ; Adult ; Cardiac Catheterization ; methods ; Child ; Child, Preschool ; Echocardiography ; Female ; Follow-Up Studies ; Heart Septal Defects, Ventricular ; diagnostic imaging ; therapy ; Humans ; Male ; Prosthesis Implantation ; methods ; Time Factors ; Ventricular Remodeling

Objective To investigate the cognitive, intelligent and cranial MRI status of 4 patients with myotonic dystrophy type 1 (DM1). Methods A pedigree of 4 patients,admitted to our hospital from September 2011 to December 2011 and diagnosed as having DM1, were chosen in our study; Chinese edition tests of Wechsler adult intelligence scale and Wechsler memory scale were used to test the intelligence of these patients; Montreal cognitive assessment (MoCA) and Neurobehavioral cognitive status examination (NCSE) were applied to evaluate the patients' cognitive function.All of the 4 patients received a cranial MRI scan. Results Except for 1 patient,the other 3 patients had low intelligent quotient (IQ) and memory quotient (MQ),and their verbal IQs were all lower than performance IQs.Three patients showed impaired visual space/executive skills,calculation,memory,and conceptual thinking abilities; 1 patient showed impaired sentence repetition and verbal fluency on MoCA,though his final scores were within normal range. Three patients had brain atrophy to some extent on MRI scan,prominently in the frontal lobe and temporal lobe; white matter lesions and thickened skull were founded in all 4 patients. Conclusion Multiple cognition disorders and brain involvements can be found in DM1 patients and deserve further investigation.

OBJECTIVETo investigate the impact of the extent of gastric resection on the prognosis of patients with middle one-third gastric cancer.

METHODSFrom January 1998 to December 2005, 222 patients with middle one-third gastric cancer underwent D2 radical resection in the Affiliated Union Hospital, Fujian Medical University. Among them, 66 underwent distal gastrectomy (DG group), while 156 underwent total gastrectomy (TG group). The 5-year survival rates were compared between two groups. The prognostic factors were evaluated by univariate and multivariate analyses.

RESULTSThe 5-year survival rates of DG group and TG group were 63.9% and 49.8% respectively, with significant difference (P<0.05). Nevertheless, compared to DG group, the tumors in TG group had bigger size, later TNM stage, and higher proportion of locating lesser curvature of stomach (all P<0.01). Multivariate analysis revealed that invasion depth, lymph node metastasis and TNM classification were independent prognostic factors (all P<0.05), but the extent of gastric resection was not (P>0.05).

CONCLUSIONIf curative resection can be performed, the long-term prognosis of patients with middle one-third gastric cancer is not affected by the extent of gastric resection, and distal gastrectomy is feasible.

Aged ; Female ; Follow-Up Studies ; Gastrectomy ; methods ; Humans ; Male ; Middle Aged ; Prognosis ; Retrospective Studies ; Stomach Neoplasms ; surgery

OBJECTIVETo investigate prevalence of Saffold virus (SAFV) in Changsha area of hospitalized children with respiratory tract infection, and to discuss whether this virus is related to respiratory tract infection of children.

METHODS643 nasopharyngeal aspirates samples were collected from hospitalized children with respiratory tract infection of the first affiliated hospital of Hunan nomal university during Nov. 2007 to Oct. 2008. Real-time fluorescent quanti-tative PCR(FQ-PCR) performed to screen the 5'UTR gene. And then analyze clinical data.

RESULTSSAFV were detected in 67 patients (10.42%) out of the 643 children, it was not detected over 5 years of age. The virus were detected in 8 patients (25.81%) out of the 31 children with persistent pneumonia and chronic pneumonia, there was statistically significant.

CONCLUSIONThere existed SAFV infection in hospitalized children with lower respiratory infection in Changsha area; SAFV maybe related to disease onset with lower respiratory tract infection of children.

Adolescent ; Cardiovirus ; genetics ; isolation & purification ; Child ; Child, Preschool ; China ; Female ; Humans ; Infant ; Infant, Newborn ; Male ; Polymerase Chain Reaction ; Respiratory Tract Infections ; virology