Objective To summarize the experience of interventional catheterization conjoined with cardiac surgical procedures performed in 23 children with congenital heart disease(CHD). Methods 12 cases with residual patent ductus arteriosus after surgical ligation and 2 postoperative cases with severe cyanosis CHD with leftover ventricular septal defect (VSD) received transcatheter closure procedures. 2 children with branch pulmonary stenosis after total correction of tetralogy of Fallot (TOF) received angioplasty and stent placement, respectively. Another postoperative case with aortopulmonary collateral arteries (APCAs) angiorrhexis underwent transcatheter haemostasis. 6 cases underwent interventional catheterization in the preoperative period. 5 cases with transposition of great arteries (TGA) underwent balloon atrial septostomy (BAS) before artery switch procedure and 1 case of TOF underwent APCAs transcatheter occlusion before total correction. Results All cases with residual left to right shunts after surgery were occluded by transcatheter therapy. Interventional catheterization procedure relieved stenosis of branch pulmonary artery in postoperative case with TOF. Haemorrhage was stopped with embolization of ruptured APCAs. Hypoxia and acidosis improved after BAS therapy in 5 cases with TGA and intact ventricular septum and 3 survived from following artery switch procedure while 2 died. The APCAs was transcatheter occluded before TOF total correction. Conclusion Interventional catheterization therapy conjoined with cardiac surgical procedure was an effective and essential method in some postoperative CHD cases and in some of complex cyanosis CHD cases.

Comprehensive therapy is the leading method to improve the overall survival for patients with advanced gallbladder cancer, especially the study of new chemotherapy regimen are on demand.From 2010 to 2011, a phase Ⅲ study of new chemotherapy regimen in the treatment of advanced gallbladder carcinoma would be undertaken nationwide to assess the clinical outcome and safety, in 31 clinical centers led by the department of General Surgery of Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, and a total of 260 patients would be accrued for this study.Chemotherapy consists of 2 regimes, conventional regime(cisplatin, epirubicin, and 5-fluorouracil, leucovorin)and new regime(conventional regime plus somatostatin).At present, the study has been approved by Clinical Trial Registration Platform of National Institutes of Health in U.S.A., and more than 30 patients are rolling in the study.The clinical trial could provide the high-quality evidence of EBM(evdence based medicine)for the chemotherapy of advanced gallbladder caner, and it will be one of the important components in the large-scale clinical study of chemotherapy for the advanced gallbladder cancer in China and worldwide.

Objective To summarize primary experiences of integrated fetal diagnosis and postnatal treatment for the transposition of the great arteries (TGA). Methods Five fetus were diagnozed as TGA at(28.4 ±4.4) weeks of gestation via fetal echocardiography. The mean age of the pregnant women was (28.4 ±3.0) years old. Delivers were taken by caesarean at (36.5 ±1.8) weeks of gestation. The body weight of neonates was (2468 ±442) grams. All neonates were transported to the department of neonatology and re-checked by echocardiography. 3 cases were TGA with intact ventricular septum, 2 cases were TGA with ventricular septal defect. Prostaglandin and mechanical ventilation were applied if oxygen saturation was lower. The standard arterial switch procedure was performed under cardiopulmonary bypass with moderate hypothermia. Results The mean age for patients at surgery was (9. 0 ±6. 2) days ( ranged 2-19 days). Three neonates survived, 2 preterm neonates died. One with body weight 1770 g, 2 days after operation was died of sudden heart arrest and failure of resuscitation. Another was treated by mechanical ventilation and prostaglandin after delivery and underwent operation at the second postnatal day, the neonate appeared low cardiac output and high serum lactate postoperatively and died in the third day. Conclusion The integrated fetal diagnosis and postnatal treatment for TGA could prevent severe cyanosis and emergency transportation after parturition. The lack of any link in the cooperation among the multidisciplinary team could affect the benefits for the TGA neonates provided by prenatal diagnosis.

OBJECTIVE: To analyze the clinical features and variants of ABCD1 gene in a Chinese pedigree affected with X-linked adrenoleukodystrophy. METHODS: Clinical data of the proband were collected and analyzed. Potential variant of the ABCD1 gene were analyzed by PCR and Sanger sequencing of the proband, his parents and 100 unrelated healthy individuals. RESULTS: The prominent features of the proband included cerebellar and brainstem lesions, along with increased serum level of very-long chain fatty acids. He was found to harbor a hemizygous c.1509delG (p.L504Sfs*54) variant of the ABCD1 gene, for which his mother was heterozygous. The same variant was not detected in his father and 100 healthy controls. CONCLUSION X-linked adrenoleukodystrophy has a variety of clinical manifestations. Discovery of the c.1509delG (p.L504Sfs*54), as a novel pathogenic variant of the ABCD1 gene, has enabled diagnosis and genetic counseling for this pedigree.
Adrenoleukodystrophy/genetics* ; Asians/genetics* ; China ; Female ; Genetic Testing ; Humans ; Male ; Mutation ; Pedigree

Objective To evaluate the predictive value and to verify the clinical effect of JPKD-vancomycin for the trough concentration of vancomycin in patients with augmented renal clearance (ARC), and to provide a reference for clinical individualized drug therapy. Methods A retrospective analysis was conducted. The clinical data of 48 adult patients with ARC using vancomycin and monitoring steady-state trough concentration of vancomycin admitted to Suzhou Hospital Affiliated to Nanjing Medical University from July 2013 to July 2017 were collected. A combination of classical Vancomycin Calculator software and JPKD-vancomycin software was used. Based on the individual conditions of patients [gender, age, height, weight, serum creatinine (SCr), disease status], Vancomycin Calculator software was used to obtain the recommended regimen and its steady-state trough concentration, and then JPKD-vancomycin software was used to predict the steady-state trough concentration of initial regimen. If the regimen was adjusted during the treatment, JPKD-vancomycin software was used to predict the steady-state trough concentration of the adjusted regimen. The measured values of steady-state trough concentration were recorded. The weight deviation between predicted concentration and measured concentration (WRES) was calculated. WRES < 30% was considered as good prediction, and the predictive value of JPKD-vancomycin software was evaluated for vancomycin trough concentration. Results Forty-eight patients with ARC were enrolled, of whom 24 patients had adjusted the dosing regimen during the treatment. The initial concentration of blood samples was 48, after adjusting the dosage regimen, 24 blood samples were collected. The initial and adjusted daily dose of vancomycin was (2 000±500) mg/d and (2 500±600) mg/d, respectively, and the initial trough concentrations and adjusted trough concentrations was (8.4±7.3) mg/L and (9.1±4.3) mg/L, respectively. Only 14.6% and 25.0% of initial and adjusted trough concentrations reached the target range (10-20 mg/L) without significant difference (P > 0.05). The WRES value of adjusted trough concentrations predicted by JPKD-vancomycin software was significantly lower than that of initial regimen [10.6% (3.0%, 16.4%) vs. 14.3% (10.5%, 38.2%), P < 0.05], and the percentage of WRES < 30% also tended to increase [95.8% (23/24) vs. 70.8% (34/48), P < 0.05]. The well predictive rate of JPKD-vancomycin software for vancomycin trough concentration was 79.2% (57/72), but there were 15 patients with WRES > 30%. Conclusions JPKD-vancomycin software has good predictive value for the vancomycin trough concentration of ARC patients, especially for the trough concentration after adjusting the treatment regimen. JPKD-vancomycin can provide a reference for the design of clinical individualized application of vancomycin.

Objective:To investigate the application of "micro ward" teaching based on the concept of dedicated education units (DEU) in the standardized training of neurosurgery residents.Methods:The 22 neurosurgery residents enrolled in 2021 for standardized training were assigned to the control group with traditional teaching method. The 24 neurosurgery residents enrolled in 2022 were assigned to the observation group with the "micro ward" teaching method based on the DEU concept. The theoretical knowledge and operational skill scores, clinical thinking ability, and teaching satisfaction were compared between the two groups of students before and after the training. SPSS 21.0 was used to perform chi-square test, Z test and t test. Results:The observation group had higher scores in terms of surgical skills [(190.63±4.35) vs. (86.79±4.82)] and case analysis [(190.54±5.06) vs. (86.13±5.35)] than the control group ( P<0.05). The scores were higher in the observation group than in the control group in terms of broadening thinking, overall thinking, curiosity, and cognitive maturity after training ( P<0.05). The observation group had a significantly higher proportion of students who were satisfied with standardized neurosurgery training teachers, teaching methods, and teaching results than the control group ( P<0.05). Conclusion:The application of "micro ward" teaching based on the concept of DEU in the standardized training of neurosurgery residents can effectively improve the clinical practice ability and professional quality of trainees, cultivate their specialized clinical thinking, enhance their independent learning ability, and improve the training quality. Therefore, this teaching method is worth promoting.

This study was aimed to analyze the clinical characteristics of Compound Kushen Injection in the treatment of patients with malignant lymphoma in the real world based on the electronic medical record,and to provide a reference for its rational application.The electronic medical data of 3 674 patients with malignant lymphoma using Compound Kushen Injection was extracted.General information,diagnostic information,and medication information were analyzed on the basis of frequency and rate of descriptive analysis.The results showed that the average age of patients was 54.95 yearsold,with more males than females.Patients were mainly from the department of oncology and hematology.Based on hospital outcomes in hospitalized patients,the clinical total effective rate was 66.15％.The single medication dosage was mostly 10-20 ml.The course of treatment was mainly 4-14 days.The common western medications in combination included dexamethasone,tropisetron injection,metoclopramide tablet,thymopolypeptides injection,cyclophosphamide injection,and etc.Common pharmacological effects of combined western medicine included anti-tumor chemotherapy drugs,immunomodulatory drugs,glucocorticoid drugs,antibiotic drugs and so on.It was concluded that the clinical dosage,scope of malignant lymphoma treatment using Compound Kushen Injection in the real world were consistent with the specification.And characteristics of the crowd using Compound Kushen injection is clear and in line with the general rule of malignant lymphoma and clinical positioning of varieties.Based on the hospital outcomes,the clinical efficacy is determined to have precise effect on hospitalized patients.The drug combination type is extensive.

Objectives: Two cases who underwent fetal pulmonary valvuloplasty (FPV) for pulmonary atresia with intact ventricular septum (PA-IVS) or critical pulmonary stenosis with intact ventricular septum (CPS-IVS) successfully were reported. The aim of the report was to explore the criteria for case selection, the technical essentials of FPV, and the postpartum outcome of the fetus. Methods: One case with PA-IVS and the other with CPS-IVS were enrolled in September 2016 and February 2017 in Guangdong General Hospital, and both cases were diagnosed with severe right ventricular dysplasia and tricuspid regurgitation by fetal echocardiogram. Parameters of right ventricle development and hemodynamics from echocardiography included tricuspid/mitral annulus (TV/MV), right ventricle/left ventricle long-axis (RV/LV), pulmonary/aortic annulus (PV/AV), tricuspid inflow duration/cardiac cycle, degree of tricuspid regurgitation (TR), blood flow direction of arterial duct and ductus venosus. Multidisciplinary team including the maternal-fetal cardiology, pediatric cardiology, cardiac surgery, obstetrics, neonatology and anesthesiology was summoned to discuss the indications and timing of PFV. Two cases underwent ultrasound-guiding trans-abdominal PFV at the 28 weeks of gestational age. Echocardiography was performed to observe the opening and closing of the pulmonary valve, and to evaluate the development of right ventricle and improvement in hemodynamics every 2-4 weeks until delivery. Results: From the technical perspective, pulmonary balloon valvuloplasty was successfully performed in these two cases. The opening of pulmonary valve improved in these two cases at 2-4 weeks after FPV. However, an obvious restenosis was detected in the first case at 5-8 weeks after FPV. In the first case, the echocardiography parameters including TV/MV, RV/LV, PV/AV and tricuspid inflow duration/cardiac cycle increased from 0.56, 0.42, 0.85,0.26 to 0.59, 0.51, 0.87, 0.32 at 5-8 weeks after FPV, respectively. However, the direction of blood flow through the arterial duct was still reverse. In the second case, TV/MV, RV/LV, PV/AV and tricuspid inflow duration/cardiac cycle ratio increased from 0.70, 0.63, 0.91,0.35 to 0.80, 0.80, 0.97, 0.42 at 5-8 weeks after FPV, respectively. The direction of blood flow through the arterial duct changed to bidirectional. Both fetuses were born alive. The first case underwent pulmonary valve commissurotomy and modified Blalock-Taussig shunt on the 8^th day after delivery and received follow-up for 6 months. The strategy for the next-step therapy was still pending. The second case underwent transcutaneous pulmonary balloon valvuloplasty on the 19^th day after delivery and received follow-up for 3 months. The opening of pulmonary valve improved obviously and the cardiac function was normal in the second case. Conclusions FPV is safe and effective for fetus during the second and third trimester of pregnancy, and FPV is beneficial for the development of fetal ventricle, valve and large artery. In addition, FPV may help to avoid the postnatal surgery for isolated single ventricle, improve fetal heart failure and prevent fetal death.

Objective:To investigate the cause of missed diagnosis by transthoracic echocardiography (TTE) based on the characteristics of partial anomalous pulmonary venous connection (PAPVC), and to improve the ultrasonic diagnostic accuracy of PAPVC in children.Methods:The TTE results of 252 children under 12 years old who were confirmed with PAPVC at Guangdong Provincial People′s Hospital from January 2011 to June 2019 were reviewed retrospectively.The types of PAPVC and the associated atrial septal defects (ASD) as well as the confirmed and missed cases by TTE were analyzed.Results:PAPVC was right-sided in 238 patients (94.4%), left-sided in 8 patients (3.2%), and bilateral in 6 patients (2.4%). There were 177 cases (70.2%) whose pulmonary veins were abnorma-lly connected to the right atrium(RA), 37 cases (14.7%) to the junction of the RA and the superior vena cava (SVC), 27 cases (10.7%) to the distal SVC, and 6 cases (2.4%) to the inferior vena cava.Besides, pulmonary veins of 5 cases (2.0%) flew back to the RA through the coronary sinus.One hundred and ninety PAPVC cases were combined with sinus venous defects (SVD) and 53 cases combined with secondum ASD.Two hundred and twenty-one cases were accurately diagnosed while 31 cases were underestimated by TTE.The omission diagnostic rates of right superior pulmonary veins connecting to the distal SVC, 1 or 2 right pulmonary veins connecting to the RA or the junction of the RA and SVC, and left-sided PAPVC were 8 out of 18 (44.4%), 22 out of 215 (10.2%) and 1 out of 8 (12.5%), respectively.Among 54 cases with right superior pulmonary veins anomalously connected to the RA or the junction of the RA and SVC, 88.9% of them (48/54 cases) were combined with superior SVD.Among 161 cases with the right inferior pulmonary veins or 2 right pulmonary veins connected to the RA, 78.2% of them (126/161 cases) were combined with inferior SVD.There were statistically significant differences in ASD types between the 2 right-sided PAPVC groups.Conclusions:SVD is often associated with 1 or 2 right pulmonary veins connected to the RA or the junction of the RA and SVC.The cases with right superior pulmonary veins connected to the distal SVC are prone to be underestimated by TTE.Whether there is abnormal blood flowing into SVC should be noticed during superior sternal fossa examinations.Each pulmonary vein should be examined in detail in the TTE test and accurate diagnosis of PAPVC can be made in most cases.

OBJECTIVETo investigate the influence of metabolic enzymes polymorphisms on variations of imatinib (IM) pharmacokinetics in gastrointestinal stromal tumors (GIST) patients.

METHODSClinical data of 118 Chinese GIST patients receiving 400 mg/d IM at Sun Yat-sen University Cancer Center between 2014 and 2016 were retrospectively analyzed. The plasma concentration of imatinib mesylate(IM) and its main metabolic N-demethyl imatinib (NDI) were determined by LC-MS/MS. CYP3A4 rs2242480, CYP1A2 rs762551, CYP2C19 rs28399505 and NR1I2 rs3814057 were genotyped by MassArray system. Association between drug concentration and polymorphism was examined by Whitney U test. P≤0.05 indicated close association and 0.05

RESULTSAmong 118 GIST patients, 63 were male and 55 were female with a median age of 55 (44 to 63) years. Primary lesion location was the stomach in 87 cases, intestine in 13 cases and other sites in 18 cases. All the patients received standard 400 mg/d IM. Concentration of IM (C) was (1 501.1±646.8) μg/L and concentration of NDI (C) was (221.7±92.5) μg/L. Association analysis showed that CYP2C19 rs28399505 was closely associated with concentration of IM and NDI(P=0.002 and 0.028). The concentration of IM and NDI in patients with TC heterozygote was significantly lower than those with wildtype TT [C: (695.4±202.9) μg/L vs. (1 518.9±716.8) μg/L, P=0.002; C:(133.3±59.8) μg/L vs. (244.5±99.1) μg/L, P=0.028]. NR1I2 rs3814057 was marginally associated with concentration of IM and NDI(C:P=0.079; C:P=0.082), while CYP3A4 rs2242480 and CYP1A2 rs762551 were not associated with concentration of IM or NDI(all P>0.10).

CONCLUSIONSCYP2C19 may play an important role in IM metabolism. Detection of CYP2C19 polymorphism may be beneficial to clinical monitoring of IM and decision making of individualized treatment.