Objective To evaluate application feasibility of Array CGH in genetic diagnosis of clinical complex chromosomal abnormalities.Methods Two patients of genetic counseling and two patients of prenatal diagnosis were selected from Xiamen Maternity & Child Health Care Hospital during the period of December 2010 to December 2011.Under aseptic conditions 2-4 ml peripheral blood was collected in EDTA and 2-3 ml Cord Blood was collected through cordocentesis after genetic counseling and preoperative examination.G-banded chromosome analysis and genome DNA extraction were carried out on the four cases.The whole genome of four cases were scanned and analyzed by Array CGH.The results of Array CGH were confirmed by FISH.Results Array CGH detected different kinds of duplications and deletions in several chromosomes.Most of these duplications and deletions were not detected by karyotype analysis.The results of Array CGH showed duplication of 4p16.3-4p15.31,deletion of 4p16.3 in the first case,duplication of Xp11.22-Xq11.1 in the second case,duplication of 4p16.3-4p15.32,deletion of 2q37.3 in the third case and duplication of 2q21.2-2q32.1,deletion of 2q14.3-2q21.1 in the fourth case.These duplications and deletions were confirmed by FISH.Conclusions Compared with conventional cytogenetic analysis,Array CGH can not only accurately detect micro deletion and micro duplication with high resolution and sensitivity but also identify breakpoints precisely.Array CGH can provide the basis for clinical genetic diagnosis.

Objective To study the effect of bel-2 siRNA on apoptosis of HL-60 cells.Methods bcl-2 siRNA was synthesized in vitro transcription with silencer siRNA construction kit.The synthesized siRNA was transfected into HL-60 cells with Amine siPORT transfection.We used MTT flow cytometer and hoechst 33258 flourescence stainning t0 evaluate cell proliferation and apoptosis. Results.Bcl-2 siRNA could partially inhibit the growth of HL-60 cells.After incubated with bcl-2 siRNAl for 48 hours,HL-60 cells exhibited morphologic characteristic of apoptosis including chromatin condensation,crescents formation and nuclear fragmentation.Conclusion Effective bcl-2 siRNA can induce apoptosis and inhibit cell proliferation.

Objective To explore the clinical charateristics,diagnosis and treatment of solid pseudopapillary tumors of the pancreas (SPTP).Methods 40 SPTP cases admitted in the First Hospital of China Medical University from 2004 to 2014 were analyzed retrospectively.Results Among 40 cases,male to female ratio was 1 ∶ 7 with the average age of 33.8 years.Major clinical manifestations included abdominal pain or discomfort and palpable abdominal masses.CT and MRI accuracy for detecting the location of tumors was better than B Ultrasonic.Surgical procedure included spleen preserving distal pancreatectomy in 15 cases,distal pancreatectomy with splenectomy in 9 cases,tumor enucleation in 11 cases,pancreaticoduodenectomy in 3 cases,duodenum preserving pancreas head resection in 2 cases.30 postoperative cases were followed-up with the mean follow-up time of 58.4 months and were all doing well.Conclusions SPTP is a tumor with low-grade malignant potentiality.Cystic and solid tumors of the pancreas found among young women are highly suspected as SPTP.Surgery is the main method of treatment and the prognosis is good.

Objective To investigate the risk factors of pulmonary metastasis and prognosis of patients with rectal cancer after anterior resection of rectal cancer.Methods The retrospective case-control study was adopted.The clinical data of 421 patients with rectal cancer who underwent anterior resection at the First Hospital of China Medical University from August 2010 to December 2014 were collected.The patients were followed up by outpatient examination and telephone interview once three months in the first postoperative year,once half a year in the second postoperative year,and then once a year.The follow-up included satuses of pulmonary metastasis and survival of patients after anterior resection of rectal cancer.The end point of follow-up was death of the patients or 31 December,2014.The risk factors of pulmonary metastasis and prognosis in patients after anterior resection of rectal cancer were analyzed.Measurement data with normal distribution were presented as x-± s and measurement data with skewed distribution were presented as M(range).The pulmonary metastasis rate/curve and survival rate/curve were calculated and drawn by the Kaplan-Meier method.The comparisons of pulmonary metastasis rate and survival rate were done using the Log-rank test.The univariate analysis was done using the chi-square test and Log-rank test.The multivariate analysis was done by Logistic regression model and COX regression model.Results Of the 421patients,389 patients were successfully followed up with a median time of 34 months (range,11-53 months) and a follow-up rate of 92.40％ (389/421).Ninety-four,168 and 127 patients were detected in Ⅰ,Ⅱ and Ⅲ stages of TNM stage.There were 29 patients diagnosed with postoperative pulmonary metastasis with the diagnosis time of (21 ± 9) months.The 3-year cumulative incidence of pulmonary metastasis after anterior resection of rectal cancer was 2.2％ in patients of Ⅰ stage,3.0％ in patients of Ⅱ stage and 17.4％ in patients of Ⅲ stage,showing significantly increase trend as the increase of the TNM stage (x2=19.927,P ＜ 0.05).The 29 patients with pulmonary metastasis did not receive chemoradiotherapy including 6 patients receiving pulmonary metastatic nodule recection.Nineteen patients were survived and 10 patients were dead.The survival time of patients diagnosed with pulmonary metastasis was (13 ±9)months and the 3-year cumulative survival rate was 75.7％,whereas the survival time of patients without postoperative pulmonary metastasis was (35 ±9)months and the 3-year cumulative survival rate was 94.3％,showing significant difference between the 2 kinds of patients (x2 =25.219,P ＜ 0.05).The univariate analysis showed that the preoperative carcinoembryonic antigen (CEA) level,degree of tumor differentiation,depth of invasion and lymph node metastasis were risk factors affecting pulmonary metastasis after anterior resection of rectal cancer (x2=4.745,7.250,5.379,18.796,P ＜ 0.05),and the multivariate analysis showed that lymph node metastasis was an independent risk factor affecting postoperative pulmonary metastasis [OR =4.167,95％ confidence interval (CI):1.608-10.801,P ＜ 0.05].The univariate analysis showed that the preoperative CEA level,distribution and number of pulmonary metastatic nodule and lymph node metastasis were risk factors affecting the prognosis of patients with pulmonary metastasis after anterior resection of rectal cancer (x2=13.793,7.246,6.284,4.076,P ＜ 0.05),and the multivariate analysis showed that the preoperative CEA level ＞ 5 μg/L was an independent risk factor affecting the prognosis of patients (HR =13.489,95 ％ CI:1.407-129.297,P ＜ 0.05).Conclusions Pulmonary metastasis after anterior resection of rectal cancer is common.Lymph node metastasis is a high risk factor affecting postoperative pulmonary metastasis,and preoperative CEA level ＞ 5 μg/L is an independent risk factor affecting the prognosis of patients with postoperative pulmonary metastasis.

Studies have suggested that human cytomegalovirus-activated infection is closely associated with atherosclerosis. The levels of interleukin-8 increase significantly in human cyto-megalovirus infection-related atherosclerosis, inducing and aggravating inflammatory reaction through the chemokine receptors, and thus plays an important role in the process of atherosclerosis.

Objective To investigate the clinical characteristics and surgical treatment of gastrointestinal stromal tumors (GIST) of the duodenum.Methods The clinical data of 39 patients with duodenal GISTs from 1992 to 2010 were analysed retrospectively.Results The most common symptoms of duodenal GISTs were alimentary tract hemorrhage,occuring in 18 cases of the 39 cases (46％).Clinical diagnosis established by CT in 22 cases (69％).Duodenoscopy performed in 18 cases established the definite diagnosis of GIST in 15 (83％).Duodenal GISTs were most commonly located in the descending portion of the duodenum in 27/39 cases (69％).All 39 cases received surgical treatment,with R0 resection in 34 cases,including partial resection of the duodenum in 47％ (16/34),pancreaticodenectomy in 35％(12/34),segmental resection of the duodenum in 3 cases,subtotal gastrectomy in 3 cases; One died perioperatively and postoperative complications developed in 9 cases,which were cured by conservative therapy.The 1,3,5 year survival rate was 90％,72％,41％ for those receiving R0 resection.Conclusions The abdominal CT scan with contrast and duodenoscopy are helpful to establish the diagnosis of duodenal GISTs.Surgical procedures depend on the size and site of the lesion for R0 resection.To decrease postoperative recurrence and prolong survival adjuvant therapy with Imatinib is necessary.

Objective To investigate the role of muhiplex ligation-dependent probe amplification(MLPA) in identifying fetal aneuploidy of chromosomes 13,18,21,X,and Y. Methods From June 2007 to December 2008,263 samples(prenatal diagnosis group),including amniotic or umbilical cord blood from pregnant women who required prenatal diagnosis,were processed in parallel by MLPA and conventional karyotype to detect fetal aneuploidy.Another 26 samples(fetal death group).ineluding retained abortion and fetal death,were also processed bv MLPA. Results Five cases of 21-trisomy,4 eases of 18-trisomy,1 case of 13-trisomy and 3 cases of 45,X were identified among the prenatal diagnosis group by MLPA,and the results were consistent with karyotype.Two cases of 45,X and 1 case of 18-trisomy were identified among the retained abortion and fetal death group. Conclusions MLPA is a rapid,efficient,simple,reliable and economical technique in detecting most common chromosomal aneuploidies and have important clinical value.

Objective To explore the diagnosis and treatment of primary hyperparathyroidism (PHPT). Methods Clinical data of 35 cases of PHPT were retrospectively analyzed. Results 23 out of 26 cases (88.5%) undergoing preoperative ultrasonography with a positive result were verified by intraoperative (findings). For ECT, the positive rate was 21 out of 23 cases (95.5%). Unilateral neck explorations (UNE) was performed in 27 cases of parathyroidoma. Two cases of parathyroid hyperplasia were treated by UNE and the other two cases by bilateral neck exploration (BNE). The procedure for 3 cases of parathyroid carcinoma was the same as that for papillary thyroid carcinoma. Unilateral resection of thyroid and parathyroid was done in a case of parathyroidoma with malignant change. Emergency excision of parathyroidoma, after (emergency) medical management, was performed in a patient with parathyroid storm, and the symptoms (subsided) postoperatively. All cases developed hypocalcemia in various degrees after surgery, but the symptoms were relieved with the use of calcium gluconate. Conclusions PHPT could be diagnosed according to (co-elevated) calcemia and PTH. Ultrasonography and ECT should be considered as the methods of first choice for preoperative localization. UNE of parathyroidoma could be feasible if accurate image localizations are (available). Radionuclear guided parathyroid resection could be performed in the patients with ectopic parathyroid disease or lesions without accurate localization. Aggressive surgical exploration after medical control of (symptoms) is the first choice of treatment when parathyroid storm is diagnosed.

Objective To summarize our experience in the prevention and treatment of accessory hepatic duct injury during operation on biliary tract.Methods The clinical data of 26 cases with accessory hepatic duct were retrospectively reviewed.Results Of 26 cases,the accessory hepatic duct were type I in 38.5%(10/26),and no complications including bile leakage,biliary infection and obstructive jaundice developed after division and ligation of the accessory hepatic duct;26.9%(7/26) were type II,among which,the accessory hepatic duct were injured in 3 cases,but no case developecl complications after relevant treatment;23.0%(6/26) were type III,among which,injury of accessory bile duct occurred in 2 cases.Of them,1 case developed bile leakage and was cured by reoperation.7.7%(2/26) were type IV and 3.9%(1/26) was type V.The cases of type IV and V were not damaged.Conclusions To prevent injury of accessory hepatic duct,pre-and intra-operation identification of the condition is very important,and especially by intraoperative cholangiography.Different types of accessory hepatic duct injury should be treated by different approaches. Accessory hepatic duct of type I might be cut and ligated.Type II accessory bile duct which(enters) the cystic duct and should be protected,but,if damaged,different methods of treatment are used,(depending) on the caliber of accessory hepatic duct.Type III and IV also should be protected,but,when damaged,the accessory hepatic duct should be repaired or performed an internal draining.

Objective: The main purpose of this study was to explore the health effects of occupational exposure to lead exceeded. Methods: We collected 114 inpatients who exposure to lead, and diagnosed lead toxicity by No. 5 Suzhou People's Hospital from January 2011 to May 2018. Samples were selected according to 1:4 of the lead exceeded group and the control group. The age and gender of the lead exce eded group were matchied, and balanced between the two groups. Lead exceeded group: 84 inpatients occupational exposure to lead, whose blood or urinary lead exceeded. Control group: 336 healthy checkup persons who did not contact with any toxic or hazardous substances. Results: The diastolic blood pressure of lead exceeded group was significantly higher than control group (P<0.05) . The red blood cell count, hemoglobin, mean red blood cell volume, mean hemoglobin content, mean hemoglobin concentration, the platelet count, and the lymphocyte count levels of lead exceeded group were significantly lower than control group (P<0.05) , while the average platelet volume level of lead exceeded group was significantly higher than control group (P<0.05) . The aspartate aminotransferase, glucose and the urea nitrogen levels of lead exceeded group were significantly higher than control group, while the creatinine of lead exceeded group was significantly lower than control group (P<0.05) . The total protein, albumin, cholesterol and low density lipoprotein levels of lead exceeded group were significantly lower than control group (P<0.05) . The abnormal rate of electrocardiogram and spleen B (24.4%, 8.33%) in lead exceeded group were significantly higher than control group (11.04%, 0.6%) (P<0.05) . The abnormal rate of liver B ultrasound, and gallbladder B ultrasound (23.81%、8.32%) in lead exceeded group were significantly lower than control group (41.32%、21.06%) (P<0.05) . Conclusion Occupational exposure to lead exceeded not only has a significant impact on red blood cell related indicators, but also has a certain impact on cardiac function and liver and kidney functions. It is suggested that lead exprsure may have some effect on health of occupational population.