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Objective:To investigate the molecular mechanism of the disease based on the clinical characterization and genetic mutation analysis in a family with intellectual disability.Methods:The proband with intellectual disability was diagnosed at Luohe Central Hospital in December 2019. Peripheral blood samples were collected from four family members. Whole exome sequencing (WES) was used to screen the pathological mutations. Then the PCR and Sanger sequencing were used to verify the selected mutations and combine the relevant database to analyze variation loci.Results:We infer that the ARX c.1162 A>G was co-segregated with the phenotype of the family based on the results of WES. The results of sanger sequencing and WES are consistent. The mother of the proband is the carrier of the mutation. There is no mutation frequency reported in the healthy population. The mutation of the ARX c.1162A>G is harmful inferred by a variety of bioinformatics software. Combined with the phenotypic analysis of OMIM database, we infer the phenotype caused by the mutation is consistent with the patients in the family.Conclusion:The mutation of the ARX c.1162 A>G may be the cause of the intellectual disability in the family affected. And the variant has not been reported in China.
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Objective To screen a set of key techniques for new medical rescue aircraft ICU care for peacetime and wartime.Methods The study used the literature review and field research method to propose the initial technical indicators.The consultation questionnaire was developed by expert panel method.Delphi method was applied to conduct two rounds of consultation among 16 experts from different fields.Analytic hierarchy process and TOPSIS comprehensive evaluation method were used to analyze and summarize data.Results In two rounds of consultation,the positive coefficients of experts were 100％,the authority coefficient of experts was 0.958,and Kendall co ordination coefficients were 0.568,0.525,0.474,and the differences were statistically significant (P＜0.05).The new medical rescue aircraft ICU care key techniques for peacetime and wartime was established finally,including 4 firstlevel indicators,37 second-level indicators,and there were 12 basic care techniques,8 specialty care techniques,10 emergency care techniques,and 7 war wound care techniques.Conclusion Key techniques for new medical rescue aircraft ICU care has high scientificity and feasibility,and experts' opinions are concentrated,which can provide additional safeguard for the transit of critically ill patients in the air.
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Based on the relevant literature, the review summarizes the etiology, pathogenesis and treatment of irritable bowel syndrome in TCM. TCM regaredsthe affected viscerals are large intestine, related to liver, spleen and kidney. The internal medicine, external treatment, and combined therapy are generally applied in clinics.
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Inflammatory response and immune dysfunction play important roles in the progression of acute-on-chronic liver failure (ACLF) and may lead to systemic inflammatory response syndrome.Excessive inflammatory and immune response may result in increased susceptibility to infection and finally lead to multiple organ dysfunction syndrome (MODS).Elimination of liver injury and correction of immune dysfunction can prevent sepsis and/or MODS and improve patients' survival.Up to now,immunotherapy for ACLF has not been recommended in related guidelines.However,as an important pathophysiological change of ACLF and a key event closely associated with incidence rate and mortality rate,persistent activation of hepatic and systemic inflammatory response and immune cel1 dysfunction urges us to consider immunoregulatory treatment,in order to block and reverse disease progression.This article introduces potential immunoregulatory drugs for the treatment of ACLF,including albumin,glucocorticoids,granulocyte colony-stimulating factor,artificial liver support system,and mesenchymal stem cell transplantation,and discusses some promising targets for immunotherapy.
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Inflammatory response and immune dysfunction play important roles in the progression of acute-on-chronic liver failure (ACLF) and may lead to systemic inflammatory response syndrome.Excessive inflammatory and immune response may result in increased susceptibility to infection and finally lead to multiple organ dysfunction syndrome (MODS).Elimination of liver injury and correction of immune dysfunction can prevent sepsis and/or MODS and improve patients' survival.Up to now,immunotherapy for ACLF has not been recommended in related guidelines.However,as an important pathophysiological change of ACLF and a key event closely associated with incidence rate and mortality rate,persistent activation of hepatic and systemic inflammatory response and immune cel1 dysfunction urges us to consider immunoregulatory treatment,in order to block and reverse disease progression.This article introduces potential immunoregulatory drugs for the treatment of ACLF,including albumin,glucocorticoids,granulocyte colony-stimulating factor,artificial liver support system,and mesenchymal stem cell transplantation,and discusses some promising targets for immunotherapy.
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Objective To evaluate the effect of single hand pipe method on venous indwelling needle puncture. Methods Literature about the impact of single hand pipe method on venous indwelling needle puncture was retrieved from digital databases of PubMed, Medline, EMbase, The Cochrane Library, SinoMed, VIP database, China National Knowledge Infrastructure(CNKI), and WanFang Data. The quality of literature was evaluated by the Cochrane Handbook (5.1.0). The Meta data was analyzed by RevMan 5.3. Results Ten random control trials were included . Ten studies indicated that single hand pipe method increased success rate of puncture[related to the risk(RR)=1.16, 95%confidence interval(CI) 1.11-1.22]. And, it decreased the complication rate (3 studies) (RR=0.32, 95%CI 0.13-0.79) and pain rate(2 studies) (RR=0.25, 95%CI 0.13-0.47) as well as shorten the time of tube(2 studies) (WMD:-1.68, 95%CI-2.44--0.93). Conclusions Single hand pipe method can improve a puncture success rate and reduce complications and pain rate and shorten the time of tube, so that get more time to rescue the patient, and improve the level of the working efficiency and nursing for the nursing staff. In addition, to some extent, save manpower. It is worth being popularized.
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Impulse oscillometry system(IOS) is a new pulmonary function test in recent years, IOS has been developed as a patient-friendly lung function test that minimizes demands on the patient, a noninvasive method without pain, the results is objective and comprehensive, suitable for all patients, especially for the elder ly, children, coma patients, pregnant women and critically ill patients, for better detection, diagnosis, and treat ment of different respiratory diseases.This article is to determine the reference values of IOS, its utility in children, the existing questions and its development prospect.
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Objective To explore the practicality and feasibility and evaluation of the team based learning method (TBL) combined with the clinical pathway leaning method (CP) in clinical teaching of department of gynecology and obstetrics. Methods Toltally 40 clinical specialist interns selected for the study were randomly divided into two groups (each 20) respectively, using TBL com-bined with CP teaching method and traditional teaching method, and to make analysis and comparisons on the above two teaching methods. Differences were compared with t testing. Meanwhile, a question-naire survey was carried out among students of TBL combined with CP teaching group for qualitative analysis of the implementation effect of TBL combined with CP pedagogy. (Qualitative analysis is the medical students' evaluation of teaching effect, without further statistical processing). Results The professional test results of TBL combined with CP teaching team were superior to the traditional teach-ing group [(83.95 ±7.63) vs. (72.00 ±5.26)] and the difference was significant by paired t tests and analysis (t=5.063,P<0.05). The knowledge contest results of TBL combined with CP teaching team were superior to the traditional teaching group(90 vs. 85,95 vs. 75,85 vs. 70). TBL combined with CP method has been recognized by 90% medical students and they think that most of their quality has been further improved. Conclusions TBL combined with CP method for the clinical teaching of de-partment of gynecology and obstetrics is practical and feasible, and should be widely applied.
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Immunological imbalance is the foundation for the development of liver damage or fibrosis.Therefore,the treatment of liver disea-ses not only relies on regenerative medicine for cellular replacement,but also depends on immunoregulation.The immunological basis of liver injury and repair,the immunological basis of multipotent stem cells for allograft,and the research advances in the immunoregulatory effect of stem cells in the treatment of liver diseases demonstrated that multipotent stem cells,especially mesenchymal stem cells,have low immuno-genicity and cause immunosuppression,with the immunological basis of allograft;in addition,they can improve the local immune microenvi-ronment of the liver by immunoregulation to reduce the liver injury caused by immune response.It is suggested that multipotent stem cells, which meet the requirements of cellular replacement and immunoregulation in the liver,will become an ideal treatment of liver diseases.
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Objective To evaluate the effects of applying clinical pathway (CP) in clinical teaching of gynecology and obstetrics. Methods Totally 200 clinical specialist interns selected for the study were randomly divided into two groups (each 100), respectively, using CP teaching and tradi-tional teaching. After the internship, professional assessment (clinical skills assessment, theory test, the respondent)were conducted to two groups of students and their professional examination scores were compared, while questionnaires were conducted in the CP teaching group. All date were analyzed by SPSS 17.0 software. Chi-square test was used for enumeration date while t test was used for mea-surement data. Results CP teaching team of professional test results [(80.01 ± 9.34) vs. (72.37 ± 10.79)], the passing rate(96%vs. 87%) were superior to the traditional teaching group(P=0.000 and 0.022). The questionnaire showed that: applying CP in clinical teaching of obstetrics and gynecology can improve interns' learning enthusiasm and initiative, improve their comprehensive analysis ability, clinical thinking ability, practical ability and many other capabilities and it got about 90% of interns' recognition. Conclusions The application of the CP in clinical teaching of obstetrics and gynecology can help enhance the teaching effectiveness, standardize the teaching process, and improve the qual-ity of teachers teaching gynecology and obstetrics.
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Medicinal animals are important part of Traditional Chinese medicine resources in China. Cytochrome c oxidase subunit I (COI) was selected as the standard DNA barcoding sequence for animal medical materials. In this study, the 51 animal species from 45 animal medical materials in the Chinese Pharmacopoeia were selected and the intra-specific variation and the inter-specific divergence, the barcoding gap, the identification efficiency of their COI sequences were analyzed. The results showed that the inter-specific divergence is higher than intra-specific distance. The barcoding gap existed between inter-specific sequence divergence and intra-specific dis-tance. The identification efficiencies were 100% both at the genus and species level except the Arthropoda. The cluster dendrogram exhibited that different species distinguished from others. Therefore, COI sequence as a bar-code is suitable to identify the species of animal medical materials in Chinese Pharmacopoeia.