0.05).But transitional PBL had much priority in enhancing students' learning interests. Conclusion The applicational of transitional PBL requires to be further deepened and improved in the realm of medical education.

OBJECTIVE: To evaluate and compare whole exome sequencing (WES) and targeted panel sequencing in the clinical molecular diagnosis of the Chinese families affected with inherited retinal dystrophies (IRDs). METHODS: The clinical information of 182 probands affected with IRDs was collected, including their family history and the ophthalmic examination results. Blood samples of all probands and their relatives were collected and genomic DNA was extracted by standard protocols. The first 91 cases were subjected to the WES and the other 91 cases were subjected to a specific hereditary eye disease enrichment panel (HEDEP) designed by us. All likely pathogenic and pathogenic variants in the candidate genes were determined by Sanger sequencing and co-segregation analyses were performed in available family members. Copy number variations (CNVs) detected by HEDEP were further validated by multiplex ligation-dependent probe amplification (MLPA). As PRGR ORF15 was difficult to capture by next generation sequencing (NGS), all the samples were subjected to Sanger sequencing for this region. All sequence changes identified by NGS were classified according to the American College of Medical Gene-tics and Genomics and the Association for Molecular Pathology (ACMG/AMP) variant interpretation guidelines. In this study, only variants identified as pathogenic or likely pathogenic were included, while those variants of uncertain significance, likely benign or benign were not included. RESULTS: In 91 cases with WES, pathogenic or likely pathogenic variants were determined in 30 cases, obtaining a detection rate of 33.00% (30/91); While in 91 cases with HEDEP sequencing, pathogenic or likely pathogenic variants were determined in 51 cases, achieving the diagnostic rate of 56.04% (51/91), and totally, the diagnostic rate was 44.51%. HEDEP had better sequencing coverage and read depth than WES, therefore HEDEP had higher detection rate. In addition, HEDEP could detect CNVs. In this study, we detected disease-causing variants in 29 distinct IRD-associated genes, USH2A, ABCA4 and RPGR were the three most common disease-causing genes, and the frequency of these genes in Chinese IRDs population was 11.54% (21/182), 6.59% (12/182) and 3.85% (7/182), respectively. We found 43 novel variants and 6 cases carried variants in RPGR ORF15. CONCLUSION NGS in conjunction with Sanger sequencing offers a reliable and effective approach for the genetic diagnosis of IRDs, and after evaluating the pros and cons of the two sequencing methods, we conclude that HEDEP should be used as a first-tier test for IRDs patients, WES can be used as a supplementary molecular diagnostic method due to its merit of detecting novel IRD-associated genes if HEDEP or other methods could not detect disease-causing va-riants in reported genes. In addition, our results enriched the mutational spectra of IRDs genes, and our methods paves the way of genetic counselling, family planning and up-coming gene-based therapies for these families.
DNA Copy Number Variations ; Humans ; Mutation ; Pedigree ; Retinal Dystrophies/genetics* ; Whole Exome Sequencing

OBJECTIVE:To explore the characteristics and regularities of the adverse drug reactions(ADRs)induced by irino-tecan,in order to provide reference for clinical application. METHODS:In retrospective study,56 cases of irinotecan-induced ADR collected from our hospital during Jun. 2011-Jan.2015 were analyzed statistically in respects of gender,age,disease types, ECOG score,medication,organs/systems involved in ADR,clinical manifestations,outcome,etc. RESULTS:All 56 patients suf-fered from ADR,among which the percentage of hematopoietic system accounted for the highest(100%),and followed by diges-tive system;the grade Ⅰ-Ⅱ ADRs accounted for 87.20%,the grade Ⅲ-Ⅳ ADRs accounted for 12.80%. 64.50% of ADRs oc-curred within 1 week. In respect of conversion,85.71%(48/56)of the patients recovered with supportive care and continued che-motherapy,the remaining 8 cases had to reduce the dose of chemotherapy and then recovered. CONCLUSIONS:With regular dose,irinotecan is well tolerated. Since ADRs induced by irinotecan are slight,all the ADRs are well managed. It is important to enhance follow-up observations of patients to prevent some serious ADRs.

OBJECTIVE:To provide reference for improving pharmaceutical consultations and the quality of pharmaceutical care. METHODS:The records of pharmaceutical consultations were collected from medication consultation center of Huilong-guan district in our hospital during Jan. 2014-Dec. 2016,and then summarized in terms of consultants composition,consultation form,consulting contents and drugs consulted,while Pareto Diagram was used to analyze the main and minor factors of consult-ing contents. RESULTS:The medication consultation center provided pharmaceutical consultations 20353 cases during 2014-2016. Main consultants were patients (20039 cases,98.5%). A total of 6307 persons were involved,mostly female (3646 persons,57.8%). Face to face was the most common consulting method (19440 cases,95.5%). There were 13 types of consulting contents,among which usage and dosage and guidance for special formulation use were the main factors,including 10392 cases (51.1%) and 3844 cases (18.9%). Among 20353 cases of pharmaceutical consultations,18874 cases of in-volved drugs,and involved 11 categories,mostly respiratory drugs (11756 cases,62.3%). CONCLUSIONS:Usage and dos-age and guidance for special formulation use are the main contents of pharmaceutical consultations in the hospital district. The services of pharmaceutical consultations for patients,physicians and nurses provided by pharmacists can solve the questions on medications,and can promote rational drug use in clinic.

Objective To investigated the expression of intracellular adhesion molecule-1 (ICAM-1)in mouse to rat cardiac xenograft and the effects of leflunomide and cyclosporine.Methods NIH mice and Wistar rats served as donors and recipients respectively.Mouse to rat heterotopic heart transplantation was performed(in the neck).The experiments were divided into 4 groups:CsA group,leflunomide(Lef)group,CsA+Lef group,control group.It was the time of rejection that no pulsation could be detected in the transplanted heart.The expression of ICAM-1 protein in cardiac xenograft tissue was detected by immunohistochemistry and Western blot in each group.Results The survival time of cardiac xenograft in control group,CsA group,Lef group and CsA+Lef group was (2.17?0.41),(2.50?1.05),(4.17?1.33)and(6.50?2.56)days respectively.The expression of ICAM-1 protein(IOD)in cardiac xenograft tissue in control group,CsA group,Lef group and CsA+ Lef group was 155.40?5.33,150.73?5.13,104.65?6.15 and 29.24?2.76 respectively.Conclu- sion The expression of ICAM-1 protein was strong in mouse to rat cardiac xenograft.The combined use of Lef and CsA can significantly suppress the expression of ICAM-1 protein in the cardiac xenograft.

Objective: To search for a best method for management mandible fractures by evaluating the effects of different treatments.Methods: We retrospectively analyzed 148 cases of mandible fractures treated in our department from January 1996 to June 2007.Results: Among the total number,134 cases were restored to normal occlusion,while 6 cases experienced local occlusive disfunction and 8 malocclusion.The effect of treatment was correlated with the types of fracture and methods of diaplasis.Conclusion: Mandible fractures should be treated with a new concept of combined and sequential multidisciplinary methods.Sound diaplasis followed by reliable fixation can produce a satisfying curative effect.At present,intermaxillary elastic traction with internal titanium plate fixation is the most effective method for the management of mandible fractures.

Objective: Maxillary and mandible fractures are severe intermaxillary injuries,frequently involving other vital organs,and usually difficult to be treated.This study discusses the treatment of maxillary and mandible fractures.Methods: We retrospectively analyzed the clinical data of 39 cases of maxillary fractures and/or mandible fractures.Results: Of the 39 cases,34 males,5 females and 84.64% aged from 20 to 50,87.17% were caused by vehicle accidents,and 94.87% were accompanied by injuries of other parts of the body.After surgical treatment,78.95% gained normal or basically normal ocular esthetic results and 68% achieved good or improved facial esthetic results.Conclusion: The results of treatment are closely related with the type and severity of fracture and the time and plan of treatment.Preoperative CT scanning and facial profile three-dimensional reconstruction are necessitated for a thorough evaluation of the fractures and an analysis of the causes and extent of facial and ocular changes.The best treatment plan for maxillary and/or mandible fractures would include anatomic reduction by surgery,intermaxillary elastic traction and rigid internal fixation with the Ti plate.

AIM:To discuss Daidzein intravitreal injection whether has protective and recovery effects on acute nerve damages.
METHODS:After the crush models of acute optic nerve were set up, 72 males SD rats were divided into 4 groups randomly as common group without surgery, FBS negative control group, Daidzein treatment group ( 10μmol/L, 100μmol/L, 1000μmol/L ) and positive control group using rats nerve growth factor ( mNGF, 100ng/mL ). Three days after interference, all experimental animals were executed. HE staining was used to evaluate morphologic change of the retina, immunohisochemical staining and western-blot tests for identifying and quantifying the distinct expression of Caspase-3 and GAP-43 among the groups.
RESULTS: Compared with the normal group and negative control group, retinal morphology of different concentrations of each Daidzein treatment group and positive control group was more complete, the expression of Caspase-3 protein was relatively lower, the expression of GAP-43 protein was relatively higher, the differences have statistically significance (P<0. 05).CONCLUSION: Daizein injection in the vitreous cavity has the capacity of protection and restoration in rat's acute nerve damages.

Objective To study the effects of Guhong injection on the expression of vascular endothelial growth factor (VEGF) in the cortex 14 days after cerebral ischemia-reperfusion. Methods 30 male Sprague-Dawley rats were divided into sham group (n=6), ischemia group (n=6), aceglutamide injection group (n=6), Honghua injection group (n=6) and Guhong injection group (n=6). The middle cerebral arteries of all the rats were occluded for 2 hours and reperfusion, except the sham group. Drugs were administered once a day 24 hours after reperfusion. The expression of VEGF in cortex was detected with enzyme-linked immunosorbent assay (ELISA) 14 days after reperfusion. Results The expression of VEGF decreased in the ischemia group compared with the sham group (P<0.001), and it increased both in the aceglutamide and Guhong injection groups compared with the ischemia group (P<0.05). Conclusion Guhong injection can significantly increase the expression of VEGF in the cortex 14 days after ischemia-reperfusion, which may be one of the ways for neuro-protection.

Objective To improve the method of blood collection from external jugular vein in rats,so as to repeatedly obtain blood samples of high quality and to meet the special requirements of the experiment.Methods The experimental rats were anesthetized by intraperitoneal anesthesia,and the jugular vein was fully exposed with special fixed method.Whereafter,the blood samples were collected by disposable vacuum blood vessels.Results This method had little traumatic effect.The blood samples were collected from 60 rats at an interval of 14 days with 1.8 to 2.5 mL each time.The success rate was above 95％,and the normal activities of the rats were not apparently affected.This vacuum blood collection method guaranteed the quality of serum,and the veracity of blood detection and analysis were also significantly improved.Conclusion On the basis of the principle of animal welfare,the improved rat jugular vein blood collection method has the advantages of simple operation,less trauma,large blood collection,high blood sample quality aod so on,which can ensure the effect of the special experiment.