Cardiomyopathy, Dilated ; etiology ; pathology ; therapy ; Humans ; Myocardium ; pathology

There has been a series of teaching innovation carried out to improve the clinical teaching of seven-year program students in the department of gynecology and obstetirics of Xinqiao hospital.By using case as a guide and problem as foundation,with multimedia and other advanced teaching plan,we paid more attention to the Chinese-English teaching to improve mixed diathesis of these medical students and find out a better teaching model.

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 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: 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.

Low-level laser effects a special biology stimulation that has been widely used in clinic. In this article, the biological effect of low-level laser irradiation was summarized, and the application in different systems, such as immunity, circulation, metabolism and nerves were reviewed.

ObjectiveTo analyze the relationship between result of hemorheology and non-pathological factors such as sex, age and life habit.Methods3483 healthy adults who had health examination were divided into different groups according to sex and age, and results of hemorheological test of them were analyzed and compared with reference values.ResultsAll hemorheological indexes of men were higher than that of women. The whole blood viscosity of female had an increasing trend along with the age increasing. However, the result of hemorheology of male showed that the index of the age of 30～49 was higher than the age of more than 50, and had a decreasing trend along with the age increasing after the age of 50. The index of high shear viscosity, low shear viscosity and hematocrit of both male and female were all higher than the reference values offered by apparatus.ConclusionEffect of non-pathological factors such as age, sex and life habit on index of hemorheology should be considered.

ObjectiveTo explore the efficacy of medication management and symptom management skills-training for preventing schizophrenics' relapse and rehabilitating their mental handicaps.Methods133 subjects were randomly assigned to the skills training group and the control group. Both groups received the same treatment, but the skills training courses were given to the skills training group for the first twenty weeks. One-year follow-up was carried out. All subjects were evaluated with standard rating scales and self-complied drug treatment compliance rating scale. Results128 subjects had completed the research. The skills training group demonstrated clinical results significantly superior to those of the control group on overall improvement according to the total score of the drug treatment compliance rating scale, the rate of relapse, the rate of re-hospitalization and the rate of effectiveness of minimizing handicap(147.9±53.2 vs. 90.4±16.3, 146.1±20.0 vs. 91.7±16.7;12.5% vs. 55%; 3.2% vs. 39.6%;86.5% vs. 26.5%, P<0.01).Conclusions The two kinds of skills training are effective in both preventing the relapse of schizophrenics in the community and minimizing their handicap.

To establish a UPLC-MS/MS method for the simultaneous determination of geniposide, genipin 1-O-beta-D-gentiobioside and geniposidic acid in rat brains and study the brain pharmacokinetics of the three iridoid glycosides in stroke rat after the oral administration of Xingnaojing. In this experiment, brain samples were precipitated with protein for twice. Acquity BEH C18 column was adopted, with acetonitrile-0.1% formic acid-water as the mobile phase for gradient elution. ESI source was adopted for mass spectra; multiple reaction monitoring (MRM) was conducted to detect negative ions. The time for sample analysis was 3.5 min. the results showed good linear relations among the three iridoid glycosides, with the extraction recovery between 99.6% and 114.3%, good intra- and inter-day precisions and accuracies and stability in line with the requirements. The t1/2 and MRT in the three components were similar in brains of stroke rats. Geniposide and genipin 1-O-beta-D-gentiobioside showed double peaks; where as geniposidic acid showed a single peak. In conclusion, the method is so specific, sensitive, accurate and reliable that it can be used to study the brain pharmacokinetics of Xingnaojing oral preparation.
Animals ; Brain ; metabolism ; Brain Chemistry ; Chromatography, High Pressure Liquid ; methods ; Drug Stability ; Drugs, Chinese Herbal ; chemistry ; pharmacokinetics ; Iridoids ; chemistry ; pharmacokinetics ; Male ; Rats ; Rats, Sprague-Dawley ; Tandem Mass Spectrometry ; methods

Objective To investigate the protein expression of stanniocalcin 1 (STC1) in papillary thyroid carcinoma (PTC) in gerontal patients versus non-gerontal subjects,and its relationship with clinicopathological features.Methods The protein expression levels of STC1 in PTC,nodular goiter and normal thyroid tissues in the gerontal patients versus non-gerontal subjects were detected by immunohistochemistry.The protein expressions of STC1 were detected by Western blotting.Results The protein expression of STC1 in gerontal patients was higher in PTC than in nodular goiter and normal thyroid tissues (60.9％ vs.30.0％,15.0％,P＜0.05 or 0.01).The relative expression of STC1 protein in gerontal patients was higher in PTC than in nodular goiter and normal thyroid tissues [(0.647 ± 0.076) vs.(0.280 ± 0.039),(0.248 ± 0.065),F =9.965 and 1.143,both P＜0.01].STC1 protein expression had no correlations with age,gender,tumor diameter and tumor position in patients (P＜0.05),while it was associated with tumor lymph node metastasis and clinical stage (P＜0.05).There was no significant difference in above indexes between the elderly and non-elderly patients with papillary thyroid carcinoma (F=0.007,P=0.934).Conclusions STC1 protein may be associated with the development of papillary thyroid carcinoma,and it may has a some reference value in differentiating benign from malignant thyroid neoplasms and in predicting the prognosis of thyroid carcinomas.