Identification of de novo chromosomal structural abnormalities using whole genome sequencing / 中华医学遗传学杂志

OBJECTIVE To assess the value of whole genome sequencing for the identification of de novo structural chromosomal abnormalities. METHODS Whole genome sequencing was utilized to analyze a boy with a peripheral blood karyotype of 46,XY,ins(3)(q21p13p21). The patient manifested with ocular abnormalities including blepharophimosis and ptosis. RESULTS Whole genome sequencing suggested a fragmentation of chromosome 3 (from position 55 473 257 to 78 341 929) has been inserted into between 136 876 730 to 138 643 831, and the breakpoints have occurred in the intergenic region. Meanwhile, there was a deletion between 138 643 831 and 138 694 476. This region contains FOXL2, a pathogenic gene associated with blepharophimosis-ptosis-epicanthus inversus syndrome. CONCLUSION De novo structural chromosomal abnormalities may be caused by novel breakpoints or microdeletion flanking the deletion region. To confirm its pathogenic nature, a mutation needs to be assessed at both genetic and genomic levels, for which whole genome sequencing is a good option.

Study on the ELISA Double-antibody Sandwich Method and Pharmacokinetics of Recombinant Human Calcineurin B Subunit in Rat Plasma / 中国药房

OBJECTIVE:To establish a method for determining recombinant human calmodulin B subunit(rhCNB)in rat plas-ma,and study its pharmacokinetics characteristics. METHODS:ELISA double-antibody sandwich method was adopted. 1 μg/ml rhCNB monoclonal antibody mAb was wrapped,added to the to-be-test sample,rhCNB polyclonal antibody pAb(dilution ratio of 1∶5 000)and HRP-labeled conjugate of anti-IgG(dilution ratio of 1∶10 000)were added. Using tetramethylbenzidine for develop-ing,microplate reader was conducted in wavelength of 450 nm to determine the absorbance value(OD value)and plasma concen-tration of 6 rats after 2,15,30,60,120,240,480,720 min of iv 2.5 mg/kg rhCNB,and the pharmacokinetic parameters were calculated by BAPP 3.0 software. RESULTS:The linear range of rhCNB were 0.195-12.5 ng/ml(r2=0.995 0),lower limit of quan-titation was 0.195 ng/ml,accuracy were 97.300%-103.622%(RSD<7.5%,n=6);RSDs of within-batch,inter-batch,freezing and thawing 3 times were no higher than 8.5%(n=6,18,15). rhCNB pharmacokinetics characteristics in rat fitted to two-com-partment model,AUC0-720 min was 173.038 mg·min/L and t1/2 was 94.62 min. CONCLUSIONS:The established method has high specificity and sensitivity,good accuracy and precision,which can be used for rhCNB quantitative detection and pharmacokinetics study in biological samples.

Clinical analysis and prognostic study of multiple primary malignancies associated with kidney malignant tumor：report of 111 cases / 中华泌尿外科杂志

Objective To investigate the clinical features of multiple primary malignancies ( MPM) in patients with kidney malignancy .Methods The clinical data of 111 patients suffered from MPM associated with kidney malignant tumor in Yantai Yuhuangding Hospital and Affiliated Yantai Hospital of Binzhou Medical College from April 1984 to December 2014 were retrospectively analyzed .Results Among the 111 cases,there were 100 cases with two primary malignancies ,9 with three cancers and 2 cases with four or five cancers.Synchronous MPM were 37 cases,and metachronous 74 cases.The interval between the first and the second primary malignancy was between 0 and 348 months,with average of 46 months and median of 16 months.One hundred and seventy-two cases were treated by operation , and 64 cases by conservative therapy.The proportion of operation from the first to the fifth cancers were 89.2%(99/111),59.5%(66/111),54.5%(6/11),50.0%(1/2),0%(0/1),respectively,with the trend of declining.Finally 95 cases (85.6%) were followed up ,with 53 cases survived and 42 cases died.From the diagnostic date of the first primary cancer,overall survival in 1 year,3 years,5 years,10 years were 97.2%,77.2%,67.8%,48.4%, respectively.Median survival time was 120 months.From the diagnostic date of the last primary cancer , overall survival in 1 year,3 years,5 years were 81.4%,53.4%,48.2%,respectively.Median survival was only 48 months.Univariate analysis showed that the cumulative survival rate was higher in patients with operation than conservative therapy ( P =0.000 ) , in metachronous group than synchronous group ( P =0.009).COX proportional hazard model showed metachronous MPM (OR=3.870,95%CI 1.702-8.801,P=0.001),aggressive operation of the first primary cancer (OR=0.107,95%CI 0.018-0.647,P=0.015) and the second cancer (OR=0.313,95%CI 0.131 -0.750, P=0.009) were independent prognostic factors. Conclusions The main treatment of MPM associated with kidney malignancy is aggressive operation, radiotherapy, chemotherapy and biological therapy are adjuvant .Early detection and early operation for MPM are beneficial for increasing the survival of the patients .

Rapid Detection of Five Common Fatty Acids in Industrial Oleic Acid Based on Ultra Performance Convergence Chromatography_Mass Spectrometry / 分析化学

A rapid method was developed for the determination of 5 common fatty acids, palmitic acid, stearic acid, oleic acid, linoleic acid and linolenic acid in industrial oleic acid based on ultra_performance convergence chromatography_mass spectrometry ( UPC_MS) . The sample was dissolved by n_hexane, followed by clean_up of extract using 0. 22 μm organic phase filter. The fatty acids were separated in 3 min on the column of Acquity UPC2 BEH 2_EP by gradient elution with carbon dioxide and methanol/acetonitrile (1∶1, V/V) system, and finally detected by MS detector in ESI- mode. Through the optimization of UPC2_MS condition, the reasonable linearity was achieved for all the analytes over the range of 0. 5-100 mg/L with the correlation coefficients ( R2 ) greater than 0. 9985. The recoveries for five fatty acids at three spiked levels were in the range from 89 . 3% to 106 . 67% with relative standard deviations of 0 . 8%-3 . 0%. The limits of detection for target compounds in the method ranged from 0. 07 mg/L to 0. 26 mg/L. The real sample analysis showed that this method was simple,fast and had a good separation effect. There was no need of derivatization for fatty acid samples. This work would provide a fast and effective detection method for UPC2 technology in oil related research field.

Application of inguinal incision in retroperitoneal laparoscopic nephroureterectomy in the treatment of upper urinary urothelial carcinoma / 中华泌尿外科杂志

Objective To evaluate the application of inguinal incision in retroperitoneal laparoscopic nephroureterectomy(LNU)in the treatment of upper urinary urothelial carcinoma(UUUC).Methods From Mar.2007 to Jan.2012,186 retroperitoneal LNU procedures on 115 males and 71 females for the treatment of UUUC were performed in our institute.All cases were grouped as inguinal incision group(n =112)and lumbar incision group(n =74)according to specimen retrieval incision.Operative time,estimated blood loss,postoperative analgesia,hospital stay,incision complications,cosmetic satisfaction and tumor recurrence were compared between the 2 groups.Results All the 186 cases of operation were successfully accomplished.There were no differences in tumor stage,tumor grade,mean operative time,blood loss between the 2 groups.In inguinal incision group,the incidence of incision fat liquefaction,incision hernia,incision bulging,lumboabdominal unsymmetry and postoperative analgesia was less than that of lumbar incision group.In inguinal incision group,the mean hospital stay was shorter,cosmetic satisfaction(Ⅰ/Ⅱ/Ⅲ)was better(7/24/81 versus 22/18/34,P ＜ 0.01).Recurrence rate of UUUC in middle and inferior segment of ureter was fewer than that of lumbar incision group(5.3％ versus 35.0％,P ＜0.01).Conclusion Retroperitoneal LNU for UUUC combined with inguinal incision offers advantage of less trauma,less complications,higher cosmetic satisfaction and lower tumor recurrence.

Laparoscopic nephroureterectomy for native upper tract urothelial carcinoma in renal transplant recipients / 中华器官移植杂志

ObjectiveTo investigate the clinical outcome of laparoscopic nephroureterectomy (LUNT) for native upper tract urothelial carcinoma (UC) in renal transplant (RT) recipients.Methods We conducted a retrospective analysis on 1130 RT recipients,and 9 patients (0.8％,9/1130) with native upper tract UC were identified. UC was confirmed pathologically in the 9 patients,including 3 cases of unilateral ureter tumor (2 on the right,and 1 on the left),4 cases of unilateral renal pelvis tumor (2 on the right,2 on the left),1 case of bilateral ureter tumor and 1 case of tumor in the right ureter and left kidney.Females predominated (8/9) in the 9 patients with upper tract UC.The patients with left upper urinary tract cancer underwent LUNT using a retroperitoneal approach with a technique of transurethral circumcision of the ureteral orifice.The patients with right upper urinary tract cancer were subjected to nephroureterctomy with ureterectomy and bladder cuff excision by complete laparascopy through a transperitoneal approach. Immunosuppressive protocol conversion from calcineurin inhibitors to sirolimus was performed on all cases. Results In the 9 patients,11 LUNTs were performed successfully without conversion to open surgery.The follow-up period was from 6 to 48 months. One patient died of lung metastasis at 8th month after tumor excision,and 1 patient displayed ductal cancer of the left breast at 7th month after LNUT.Another seven patients showed no evidence of disease during the follow-up period with normal renal function.ConclusionOur present clinical experience suggested that LNUT for the native upper tract cancer in renal transplant recipients is feasible,safe,and effective.

Laparoscopic nephron sparing surgery in the treatment of renal tumors / 中华泌尿外科杂志

Objective To evaluate the operative techniques and the methods of the renal function protection in laparoscopic nephron sparing surgery for the treatment of renal tumors.Methods Thirty-six renal tumor patients accepted transperitoneal laparoscopic partial nephrectomy at the 70 degree lateral decubitus position.There were 17 tumors in the upper pole,13 in the lower pole and 6 in the center of kindey.The mean tumor diameter was 2.6 cm(from 0.8 to 4.0 cm).Peke forceps were used to clamp the renal artery and achieve warm ischemia.Cold scissors was used to resect tumors and Hem-o-lok was used to clamp and control the artery bleeding in surgical bed instead of ligature when suturing the kidney parenchyma.Ulinastatin was used to prevent and relieve the ischemical reperfusion injury.The operative time,estimated blood loss,warm ischemia time,intraoperative and postoperative complications and the operative efficacy were recorded.Results All operations were completed successfully,no case was converted to open surgery.The mean operative time was 128 min(95 to 186 min),mean estimated blood loss was 130 ml (40 to 600 ml),mean warm ischemia time was 21 min(16to 28 min).There was no hemorrhage and urinary leakage after surgery.The post-operative renal function was normal in all the cases.The histopathological examination showed that 36 cases were renal cell carcinoma including 31 pT1a,cases and 5 pT1b cases.There was no positive surgical margin.The mean follow-up time was 16 months (from 6 to 30 months).There was no recurrence and metastasis found and renal function was normal in all cases during the follow-up.Conclusions Laparoscopic nephron sparing surgery for renal tumors is a safe and feasible treatment option.This procedure can resect tumor safely and preserve renal function efficiently.The use of Hem-o-lok instead of ligature can significantly reduce the operative time.Ulinastatin can help reducing the ischemical reperfusion injury and thus preserve renal function.

Summary of 1289 percutaneous nephrolithotomy cases under ultrasonic guidance for the treatment of upper urinary calculi / 中华泌尿外科杂志

Objective To evaluate the efficacy and safety of percutaneous nephrolithotomy (PCNL) under ultrasonic guidance for the treatment of upper urinary calculus. Methods From June 2004 to July 2009, 1289 patients with upper urinary tract calculi were treated with PCNL under ultrasonic guidance, 386 cases of them were upper ureteral calculi, 463 cases were single renal calculi,355 cases were multiple renal caculi, 85 cases were staghorn calculi. Calculus size was 0.8 cm× 1.2cm-9.0 cm× 5.3 cm,mean 2. 1 cm× 3.1 cm. Nine hunderd and thirty-five cases were with hydronephrosis. Results All patients were performed PCNL successfully, without conversion to open surgery or death. Mean operation time was 90(55-220)min, mean operative blood loss was 175(60-800)ml. Thirty-one cases were given blood transfusion during operation or post operation, 14 cases were given super-selective renal artery embolism for bleeding control. 1105 cases were treated with single tract, 108 cases with double tracts, 76 cases with three tracts. Calculus clearance rate of onestage PCNL was 85.03%(1096/1289);193 cases were found with residual calculi, 67 of them were given extracorporeal shock-wave lithotripsy, 126 of them were given two-stage PCNL, calculi were removed complelety in 85 cases. Total calculus clearance rate was 91.62%(1181/1289). Conclusions PCNL under ultrasonic guidance is an effective and safe method for the treatment of upper urinary calculus with advantages of accurate positioning, high calculus clearance rate, minimal trauma, and fewer complications. The key of successful PCNL is selection of patients, grasp of operation technique, and availability of other equipements.

Application of different operative approaches for laparoscopic treatment of upper urinary tract transitional cell carcinoma / 中华泌尿外科杂志

Objective To analyze the different approaches and their indications in the laparo-scopic treatment of upper urinary tract transitional cell carcinoma. Methods 94 patients with upper urinary tract transitional cell carcinoma were divided to two groups. Group A (63 cases) with renal pelvic and ugper ureteral carcinoma were treated with retroperitoneal approach laparoscopic surgery and transurethral reseetoscope surgery. Group B (31 cases) with middle ureteral carcinoma including 6 cases with ureteral local infiltration were treated through 70° recumbent position transperitoneal ap-proach laparoscopic surgery combined with bladder cuff resection. The operative time, blood loss, the intestinal functional recovery time and post-operative complications were recorded. Results All 94 procedures were successfully completed, with no complication during the surgery. The mean operation time of A and B group was 156.5 and 160.8 min;the mean blood loss was 80 and 86 ml; the mean hos-pital stay was 8 and 8. 5 d; the time of bowel functional recovery of group A and group B was 24-48 and 24-72 h, respectively. 84 cases were followed-up with mean follow-up time of 23 months. Three eases and 5 cases were found having bladder tumor in the group A and group B. The incision and port metastasis was not found. Conclusions It is safe and feasible to treat the upper urinary tract transi-tional cell carcinoma laparoscopically. The selection of operating approach is mainly based on the loca-tion and local infiltration status of the tumor.