Objective To analyse the mutation of pathogenic gene TSC2 in tuberous sclerosis complex (TSC). Methods Using polymerase chain reaction-single strand conformation polymorphism(PCR-SSCP), all the 41 exons of TSC2 gene were analyzed in 4 TSC cases(include 1 suspect case) from one family and 1 sporadic TSC case ,and compared with the kin familial controls and kinless normal controls. Results Missense mutation on exon33 1346S→P (4037T→C) of TSC2 was found in 4 familial cases, and no mutation of TSC2 gene was found in the sporadic case and all the health controls. Conclusion Missense mutation on exon33 (1346S→P,4037T→C)is a new discovery in TSC2 gene of patients with TSC.

Objective To explore whether there were abnormalities of behavioral tests and CNV-like potential in stressed rats following repeatedly forced swim stress.Methods Forty male rats were randomly divided into 4 groups: the control groups (Control-1 and Control-2) and the stress groups ( Stress-1 and Stress-2).Rats in stress groups were administered to repeatedly forced swim 7 or 14 days respectively.Body weight gain, saccharin preference test and open field test were performed.After being anesthetized with urethane, CNV-like potentials were elicited by condition-test stimulus.Results Results of behavioral tests displayed less body weights (F =253.60, P＜0.001 ) and less saccharine solution intake (F= 13.67, P=0.001 ) in stressed group rats and significant effects of stress on the number of crossing squares, the duration of rearing and the number of grooming in open field test.CNV amplitudes were lower in the stressed rats than those in control (F=21.312, P＜0.01 ).Conclusion This study provides an important evidence of changes of CNV-like potential in depressed rats following repeatedly forced swim stress.Based on this study, ER Ps should be taken into consideration and applied as the useful tools in the research work of depressed animal models.

Objective To investigate the differences of measurement of gross target volume (GTV)between endoscopic ultrasonography ( EUS )-based ( GTVEUS ) and computed tomography ( CT ) -based (GTVCT) method for thoracic esophageal squamous cell carcinoma. Methods EUS was performed on 36consecutive patients with thoracic squamous cell carcinoma, and the superior and inferior boarders of the tumor defined by EUS were marked with hemoclips. The CT planning scan was then performed with the patient in supine position, and the GTVCT and GTVEUS were contoured respectively. The lengths ( LCT and LEUS) and spatial locations of longitudinal GTVCT and GTVEUS were compared. Results The mean LCT and LEUS were (7. 79 ± 3. 15 ) cm and (7. 42 ± 2. 72) cm, respectively ( t = 0. 82, P ＞ 0. 05 ), with a correlation coefficient of 0. 61 (P ＜0. 001 ). Locations of longitudinal GTVCT and GTVEUS were compared in 34cases, with 2 excluded for invisualization on CT. The mean conformal index (CI) was (0. 79 ± 0. 18 ), and spatial variations were found in 71% patients, with 8 patients at proximal end and 21 others at distal end.There was no clip placement associated complication. Conclusion Endoscopic hemoclips placement is safe and reliable. EUS can provide additional information to CT in defining longitudinal GTV in thoracic esophageal squamous cell carcinoma, especially in superficial and submucosal carcinomas.

Objective To explore the normal values for two-dimension solid state high resolution anorectal manometry (HRAM) in healthy adult volunteers.Methods The healthy adult volunteers were recruited by advertisement and underwent solid state HRAM in the left lateral position.Anorectal pressures and rectal sensation were recorded and analyzed.Results (1) A total of 126 Chinese healthy adult volunteers (male:50 cases (39.7％);age:(37.5 ± 14.2) years old) were recruited in this study.(2)Mean anal resting pressure (MERP) was (71.8 ± 17.3) mmHg (1 mmHg =0.133 kPa).Maximum anal resting pressure (MARP) was (79.3 ± 17.8) mmHg,Maximum anal squeeze pressure (MSP) was (178.7 ± 52.8) mmHg.Anal high pressure zone (HPZ) length was (3.4 ± 0.6) cm.During simulated evacuation,residual anal pressure (RAP) was (63.8 ±20.5) mmHg,and anal relaxation rate (ARR) was (37.0 ± 11.5) ％.Rectal threshold volume for first sensation (FST),desire to defecate (DDT),urgency to defecate (UDT) and maximum discomfort (MDT) was (47.4 ±10.0) ml,(84.5 ±18.2) ml,(125.8 ± 28.5) ml,and (175.5 ±36.1) ml,respectively.(3) Compared with female subjects,male subjects had higher MSP [(211.0 ± 50.7) mmHg vs (157.5 ± 42.5) mmHg],RAP [(71.6 ± 18.1) mmHg vs (58.8 ± 20.5) mmHg]and rectal MDT[(187.0 ±36.4) mmHg vs (168.0 ±34.1)mmHg],but lower ARR [(32.1 ±8.0)％ vs (40.2 ±12.3)％],all P＜0.01.(4) MERP,MARP,MSP and rectal MDT were higher in young group (≤ 40 years old),all P ＜ 0.05.Conclusions These observations provide normal values for two-dimension solid state HRAM,which have significant difference between genders and different age groups.

Objective: To evaluate the safety and efficacy of overlapping Sirolimus-eluting stents (SES) in very long lesions during primary percutaneous coronary intervention (PCI) in patients with ST-elevated myocardial infarction (STEMI).Methods: A total of 297 consecutive patients with STEMI underwent primary PCI from January to December 2007 in our hospital were studied.We identified the patients who had 2 or more SES implanted in single long lesion with a single procedure.6 months angiographic and clinical follow-up was performed.The incidences of restenosis and major adverse cardiac event (MACE) during hospitalization and at the follow-up time were analyzed.Results: We identified 31 patients with 31 long lesions who had been implanted more than 2 stents.A median of 2.1 stents were implanted, the median lesion length was 47.2±10.3mm and a median implanted stents'length was 53.2±10.5 mm.6 months clinical follow up rate was 100% and 6 months angiographic follow-up rate was 74.2%, respectively.The incidence of MACE was 8.7% which including target lesion revascularization (TLR).No cardiac death and no fatal myocardial infarction were found.Conclusion: Implantation of SES for very long target lesions seemed to be safe and effective in patients with ST elevated myocardial infarction.Its long-term safety and effectiveness should be further investigated.

OBJECTIVETo investigate the methylation status of Runx3 promoter and Runx3 expression in breast lesion tissues.

METHODSOne hundred and fourteen breast lesions, including 35 cases of fibroadenoma, 39 cases of intraductal carcinoma, 40 cases of invasive ductal carcinoma, and 33 cases of normal breast tissue from Fabruary 2010 to August 2012 were included in this study. Runx3 protein expression was assessed by immunohistochemical SP method; whereas methylation of Runx3 promoter was assessed by high resolution melting (HRM) analysis.

RESULTSRunx3 protein was mainly expressed in the cytoplasm of ductal epithelial cells. The expression rates of Runx3 in normal breast tissue, fibroadenoma, ductal carcinoma in situ, invasive ductal carcinoma were 87.9% (29/33), 85.7% (30/35), 53.8% (21/39), and 40.0% (16/40) respectively. The methylation rates of Runx3 promoter were 12.1% (4/33), 20.0% (7/35), 46.2% (18/39), and 57.5% (23/40), respectively. Correlation analysis between promoter methylation and protein expression of Runx3 in different breast tissue showed the r value in normal breast tissue, fibroadenoma, ductal carcinoma in situ and invasive ductal carcinoma was -0.431 (P = 0.012), -0.408 (P = 0.015), -0.589 (P = 0.000) and -0.743 (P = 0.000) respectively.

CONCLUSIONSRunx3 protein expression shows a downward trend in ductal carcinoma in situ and invasive ductal carcinoma, meanwhile its promoter methylation increases significantly. The methylation of Runx3 promoter may be one of the important factors in the occurrence and development of breast cancer.

Breast ; metabolism ; Breast Neoplasms ; metabolism ; Carcinoma, Ductal, Breast ; metabolism ; Carcinoma, Intraductal, Noninfiltrating ; metabolism ; Core Binding Factor Alpha 3 Subunit ; genetics ; metabolism ; DNA Methylation ; Female ; Fibroadenoma ; metabolism ; Humans ; Neoplasm Proteins ; metabolism ; Promoter Regions, Genetic

Objective: To explore the application of penile base staggered flap in the operation of severe hypospadias with penoscrotal transposition. Methods: Twenty-three cases with severe hypospadias with penoscrotal transposition were corrected by urethroplasty and staggered flap plasty in our department from May 2013 to June 2016. After urethroplasty, the skin at the junction of the penile base and scrotum was transversely cut by 1.5-2.0 cm, and then sutured with Z-plasty to reconstruct the angle of the penis and scrotum. Results: After the operation, infection and cracking at the suture of the staggered flap occurred in one child and was cured after dressing change and symptomatic treatment. Two cases suffered from urine leakage at the suture of the staggered flap. One of the cases realized self-healing and the other received a repair operation for urinary fistula. Three children suffered coronary sulcus fistula and was cured by urethroplasty. All the patients were followed up from 10 to 30 months with normal penis scrotal position and satisfactory appearance. Conclusions The application of penile base staggered flap can be used for severe hypospadias in one stage with penoscrotal transposition surgery. It is a simple and satisfactory method for the treatment of hypospadias with penoscrotal transposition.

OBJECTIVETo investigate the features of glutamate activity in the limbic system and the effects of glutamate on the activation of the hypothalamus-pituitary-adrenal (HPA) axis throughout both acute cerebral ischemia and reperfusion.

METHODSThe changes in glutamate content in the nervous cell gap, in corticotrophin releasing hormone (CHR) mRNA expression level in brain tissue, and in adrenocorticotropic hormone in blood plasma at different time-points after middle cerebral artery occlusion (MCAO) in rats were determined respectively with high-performance liquid chomatography (HPLC) and in situ hybridization.

RESULTSGlutamate content in the hippocampus and the hypothalamus increased rapidly at ischemia 15 minutes, and reached peak value (the averages were 21.05 mg/g +/- 2.88 mg/g and 14.20 mg/g +/- 2.58 mg/g, respectively) at 1 hour after middle cerebral artery occlusion. During recirculation, it returned rapidly to the baseline level. At 24 hours after reperfusion, it went up once more, and remained at a relative high level until 48 hours after reperfusion, and then declined gradually. CRH mRNA expression levels in the temporal cortex, hippocampus and hypothalamus were enhanced markedly at 1 hour ischemia and were maintained until 96 hours after reperfusion. At the same time, adrenocorticotropic hormone level in plasma was relatively increased. In the peak stage of reperfusion injury, there was a significantly positive correlation (n = 15, r = 0.566, P < 0.05) of the glutamate contents in the hypothalamus with the number of cells positive for CRH mRNA expression level in the hypothalamus.

CONCLUSIONIt is probable that the CRH system in the central nervous system is mainly distributed in the limbic system, and glutamate might be one of the trigger factors to induce excessive stress response in the HPA axis.

Animals ; Glutamic Acid ; analysis ; Hypothalamo-Hypophyseal System ; chemistry ; Infarction, Middle Cerebral Artery ; metabolism ; physiopathology ; Limbic System ; chemistry ; Male ; Pituitary-Adrenal System ; chemistry ; Rats ; Rats, Wistar ; Reperfusion Injury ; metabolism ; physiopathology

Objective To evaluate the safety and clinical efficacy of stereotactic body radiation therapy (SBRT) for lung cancer.Methods A retrospective analysis was performed on 200 patients with primary non-small cell lung cancer (NSCLC)(118 patients) or solitary pulmonary metastasis (82 patients) who underwent SBRT in Zhejiang Cancer Hospital from January 2012 to September 2015.The 80% isodose line covered 95% of the planning target volume,and the 100% isodose line covered 100% of the internal gross tumor volume.The fractional dose was 4.0-18.0 Gy daily or every other day,and the biologically equivalent dose ranged from 40.0 to 151.2 Gy (median 100 Gy).Results All patients completed treatment.The follow-up rate was 96.0%.The complete response and partial response rates were 14.8%(17/115) and 65.2%(75/115) for the primary tumor group,versus 25%(19/77) and 38%(29/77) for the metastasis group.The incidence rates of grade Ⅱ and Ⅲ acute radiation pneumonitis were 4.7% and 3.1%,respectively.The median follow-up was 14.9 months.The 1-and 2-year local control rates were 95.7% and 84.3% for the primary tumor group,versus 92% and 73% for the metastasis group.The 1-and 2-year overall survival rates were 94.5% and 92.0% for the primary tumor group,versus 85% and 62% for the metastasis group.Conclusions SBRT is a safe and effective treatment for early primary NSCLC and solitary pulmonary metastasis,resulting in high 1-and 2-year local control and overall survival rates and low rate of complications.