Objective:To explore the clinical phenotype and genetic etiology for a Chinese pedigree affected with Autosomal dominant polycystic kidney disease (ADPKD).Methods:A pedigree with ADPKD diagnosed at the Department of Gynaecology of the First Affiliated Hospital of Zhengzhou University in December 2020 was selected as the study subject. Clinical data of the pedigree was collected, and whole exome sequencing (WES) was carried out for the proband. Candidate variants were verified by Sanger sequencing of the proband and her relatives. This study was approved by the First Affiliated Hospital of Zhengzhou University (Ethics No. KS-2018-KY-36).Results:Fetal ultrasonography showed increased volume and parenchymal echogenicity in both kidneys. The fetus was found to harbor c. 11098C>T (p.R3700C) and c.11039T>C (p.F3680S) compound heterozygous variants of the PKD1 gene, which were respectively inherited from its mother and father. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were predicted to be likely pathogenic (PM1+ PM2_Supporting+ PP3). Conclusion:The c. 11098C>T (p.R3700C) and c. 11039T>C (p.F3680S) compound heterozygous variants of the PKD1 gene probably underlay the ADPKD in the fetus. Above finding has provided guidance for the genetic counseling and prenatal diagnosis for this pedigree.

Angiokinases, such as vascular endothelial-, fibroblast- and platelet-derived growth factor receptors (VEGFRs, FGFRs and PDGFRs) play crucial roles in tumor angiogenesis. Anti-angiogenesis therapy using multi-angiokinase inhibitor has achieved great success in recent years. In this study, we presented the design, synthesis, target identification, molecular mechanism, pharmacodynamics (PD) and pharmacokinetics (PK) research of a novel triple-angiokinase inhibitor WXFL-152. WXFL-152, identified from a series of 4-oxyquinoline derivatives based on a structure-activity relationship study, inhibited the proliferation of vascular endothelial cells (ECs) and pericytes by blocking the angiokinase signals VEGF/VEGFR2, FGF/FGFRs and PDGF/PDGFR simultaneously . Significant anticancer effects of WXFL-152 were confirmed in multiple preclinical tumor xenograft models, including a patient-derived tumor xenograft (PDX) model. Pharmacokinetic studies of WXFL-152 demonstrated high favourable bioavailability with single-dose and continuous multi-dose by oral administration in rats and beagles. In conclusion, WXFL-152, which is currently in phase Ib clinical trials, is a novel and effective triple-angiokinase inhibitor with clear PD and PK in tumor therapy.

Objective To investigate the effect of early involvement in clinical practice in improving comprehensive abilities of medical students and strengthening their occupational cognition. Methods The students in the 5-year class of 2014 of pediatrics in our university were enrolled as subjects, among whom 78 students who received early involvement in clinical practice and teaching were enrolled as experimental group and 81 students who did not receive such teaching were enrolled as control group. A questionnaire survey was performed for the students participating in the teaching, including basic information, pre-training quality evaluation, development of personal knowledge and abilities, and comments or suggestions. The two groups were compared in terms of the score of the theoretical course of pediatric surgery, so as to explore whether"early involvement in clinical practice"could improve the theoretical study of students. Finally, the performance of students in clinical practice was evaluated and compared between the two groups to assess the role of "early involvement in clinical practice" in improving comprehensive abilities and occupational cognition. Results More than 90％of the students were satisfied with early involvement in clinical practice and they thought this activity helped them to improve clinical thinking, strengthen occupational cognition, enhance learning interests, improve communication skills, and promote the combination of basic and clinical knowledge. In addition, the follow-up analysis found that compared with the control group, the experimental group had a significantly higher average score [(74.59 ±0.50) vs. (68.89 ±0.67)] and a significantly higher proportion of students with a score of >70, and no students failed. As for the score of clinical practice, the experimental group had significantly better clinical work proficiency, clinical thinking, operational ability,and doctor-patient communication ability than the control group. Conclusion Early involvement in clinical practice among medical students can improve their comprehensive abilities and help to cultivate clinical thinking and doctor-patient communication skills and strengthen their occupational cognition, which lays a good foundation for cultivating high-quality talents through medical education.

Objective To study the effect of hand rule in diet of type 2 diabetes.Methods A total of 48 type 2 diabetes cases were randomly divided into experimental group and control group,with 24 cases per group.Both groups were given regular diabetes dietary training for 3 days,the experimental group was added palm rule dietary for one day.After training,both groups conducted a diabetic diet practice for six months.Fasting plasma glucose,HbA1c,body mass index and serum lipid were observed at beginning and after six months.Patients'diet compliance were assessed before trail and after six months of trail by self-designed diabetes diet questionnaire.Results Fasting plasma glucose,HbA1c,the body mass index and serum lipid after 6 months in the experimental group were lower,and the diet compliance was higher than that of the control group (P ＜0.01).Conclusion The palm rule could improve diet compliance in type 2 diabetes patients,and better control blood glucose,body weight and lipids.So it is worthy of clinical promotion.

Objective To study the effect of hand rule in diet of type 2 diabetes.Methods A total of 48 type 2 diabetes cases were randomly divided into experimental group and control group,with 24 cases per group.Both groups were given regular diabetes dietary training for 3 days,the experimental group was added palm rule dietary for one day.After training,both groups conducted a diabetic diet practice for six months.Fasting plasma glucose,HbA1c,body mass index and serum lipid were observed at beginning and after six months.Patients'diet compliance were assessed before trail and after six months of trail by self-designed diabetes diet questionnaire.Results Fasting plasma glucose,HbA1c,the body mass index and serum lipid after 6 months in the experimental group were lower,and the diet compliance was higher than that of the control group (P ＜0.01).Conclusion The palm rule could improve diet compliance in type 2 diabetes patients,and better control blood glucose,body weight and lipids.So it is worthy of clinical promotion.

Objective Analysis the influence risk factors of infants and young children tetralogy of Fallot for radical treatment , and explore the perioperative treatment methods .Methods 195 cases(include death group and survival group)of hospitalized data of TOF resection in this hospital were collected in January 2003 to November 2012 ,then statistical analysis was done .Results Uni-variate analysis of variance showed ,age ,weight ,McGoon ratio ,cardiopulmonary bypass time and aortic clamping time were statisti-cally significant in two groups ,Multivariate Logistic regression analysis showed McGoon ratio <1 .0 ,cardiopulmonary bypass time>90 min ,aortic clamping time>70 min ,age<3 months were related to the postoperative death of TOF radical operation .Conclu-sion It is safe and reliable of radical surgery in infants and young children ,McGoon ratio ,cardiopulmonary bypass time and aortic clamping time ,age are the risk factors of the postoperative death of TOF radical operation .

Objective To explore the diagnosis and surgical treatment experience of vascular ring in infants and children.Methods Fourteen cases (9 boys and 5 girls,aged 2 months to 6 years,weighted 4.5 - 15.0 kg) with vascular ring were diagnosed and treated surgically in Children's Hospital of Chongqing Medical University from Sep.2009 to Dec.2010.All children underwent X-ray,echocardiography and spiral computed tomography examination preoperatively.Bronchoscopy and barium swallow was performed in 5 cases respectively.The pathological types of vascular rings included double aortic arch in 1 ( 7.1％ ),pulmonary artery sling in 7 (50.0％),right aortic arch with left patent ductus arteriosus or persistent left ligament in 6 (42.9％).Associated cardiac anomalies were present in 7 (50.0％) patients.Tracheal stenosis of different length ( 12％ -62％ ) and severity (45％ -74％ cross-sectional luminal narrowing) was observed in the group.Barium swallow in 5cases showed localized compression of the esophagus.12 cases underwent repair of vascular ring with cardiopulmonary bypass (CPB),and the associated congenital heart defects were repaired simultaneously.2 cases of right aortic arch with left patent ductus arteriosus or persistent left ligament underwent surgery without CPB.Results The median duration of CPB in 12 cases and aortic cross-clamp time in 7 patients were 77.5 minutes ( range:55 - 186 minutes) and 36 minutes ( range:22 - 110 minutes) respectively.The median duration of postoperative ventilation and ICU stay were 21 hours (range:7 -308 hours) and 79.5 hours (range:16-314 hours) respectively.One baby with pulmonary artery sling died on the postoperative 12th day ( in-hospital mortality 7.1％ ).Of the 13 cases discharged from the hospital,1 case were lost to follow up.In the follow-up ( 1- 15 months) of 12 cases,digestive symptoms were disappeared.Development,exercise tolerance and symptoms showed obvious improvement,although 5 (41.7％) patients had residual respiratory problems.Conclusion Prolonged or recurrent aerodigestive issues in children should alert the pediatrician to the possibility of a vascular ring.Multislice spiral CT scanning is the best imaging modality.All vascular rings should be surgically corrected,and the associated long-segment severe tracheal stenosis needs.The short to midterm outcomes of surgical division are excellent.

Objective To explore the operative methods and indications of duodenoscopic papillotomy during the course of operation(IEPT)for cholelithiasis.Methods Cholecystectomy was firstly conducted under the condition of laparoscopy or open laparotomy.For the gross choledochus,the common bile duct was cut open to clear the stones.The ureteric catheter and zebra guidewire were inserted into the common bile duct and duodenum.Then they were inserted via duodenoscopy into thepapillum of duodenum.The papillary stenosis was removed with electro-knife by pin-head-like and arch-like to track along the ureteric catheter and zebra guidewire.For the tiny choledochus,the ureterie catheter and zebra guidewire were inserted via the cholecystic duct remnant into the common bile duct and duodenum.Then they were inserted via duodenoscopy to perform papillotomy to clear the stones of the common bile duct with the reticulation and the balloon of duodenoscopy.Results Forthe gross choledochus,IEPT in laparoscopy was successful in 45 cases and the other 2 received other operation.IEPT in open laparotomy was successful in 5 cases.For the tiny choledochus,IEPT in laparoscopy was successful in 73 cases and the other 1 underwent other operation.IEPT in open laparotomy was successfulin 2 cases.Conclusion If patients are suitable,IEPT is safe and effective in the hands of skilled endoscopiests for laparoscopy and open laparotomy.

Objective To evaluate combination of cholcdochoscopy or duodenoscopy with therapeutic laparoscopy (LCDCS) in treatment of detail choledochus stones. Methods Laparoscopic cholecystectomy was firstly performed and followed by choledochoscopy or duodenoscopy. Procedures of therapeutic choledochoscopy were as follows: choledochoscopic exploration via cystic duct remnant, choledochotomy, electrohydralic lithothipsy, drainage of bile duct with ureteral catheter via cystic duct remnant, T-tube drainage, or the suture of duct incision. Procedures of therapeutic duodenoscopy were as follows: access to the common bile duct and duodenum through ureteric catheter and zebra guidewire via cholecystic duct remnant, duodenoscopy via oral cavity into the duodenum papilla, papillotomy with needle-knife or arch-like electro-knife along the ureteric catheter or zebra guidewire, and stone clearance in the common bile duct with the reticulation and balloon of duodenescopy. Results Combination therapy were given to 191 cholelithiasis patients with detail choledochus stones. Combined choledochoscopy were performed in 117 patients. Stones were completely removed and average operation time was 114 min. Bile leakage occurred in 7 cases, but was cured with drainage. Postoperative imaging showed 2 cases of bile duct stenosis at primary closure of duct incision. Combined duodenescopic procedures were performed in 74 patients. Papillotomy and stone clearance were successfully performed in 68 patients, 5 others of whom underwent successful papillotomy only, and another underwent other operations. Average operation time was 97 min. Post-operation mild acut pancreatitis developed in 6 patients. No perforation of intestine or bile duct, bleeding, severe pancreatitis, or death was observed in each group. Conclusion LCDCS was safe and effective with appropriate indications.

0.05). The levels of ET-1 increased significantly in 1 h after CPB (P0.05). Conclusion The priming fluid with dexamethasone and aprotinin could inhibit the CBP-induced IL-6, TNF-?releasing, but have no such effects on ET-1, TXB 2 and 6-Keto-PGF 1? .