Objective:Autosomal recessive bestrophinopathy(ARB),a retinal degenerative disease,is characterized by central visual loss,yellowish multifocal diffuse subretinal deposits,and a dramatic decrease in the light peak on ...Objective:Autosomal recessive bestrophinopathy(ARB),a retinal degenerative disease,is characterized by central visual loss,yellowish multifocal diffuse subretinal deposits,and a dramatic decrease in the light peak on electrooculogram.The potential pathogenic mechanism involves mutations in the BEST1 gene,which encodes Ca2+-activated Cl−channels in the retinal pigment epithelium(RPE),resulting in degeneration of RPE and photoreceptor.In this study,the complete clinical characteristics of two Chinese ARB families were summarized.Methods:Pacific Biosciences(PacBio)single-molecule real-time(SMRT)sequencing was performed on the probands to screen for disease-causing gene mutations,and Sanger sequencing was applied to validate variants in the patients and their family members.Results:Two novel mutations,c.202T>C(chr11:61722628,p.Y68H)and c.867+97G>A,in the BEST1 gene were identified in the two Chinese ARB families.The novel missense mutation BEST1 c.202T>C(p.Y68H)resulted in the substitution of tyrosine with histidine in the N-terminal region of transmembrane domain 2 of bestrophin-1.Another novel variant,BEST1 c.867+97G>A(chr11:61725867),located in intron 7,might be considered a regulatory variant that changes allele-specific binding affinity based on motifs of important transcriptional regulators.Conclusion:Our findings represent the first use of third-generation sequencing(TGS)to identify novel BEST1 mutations in patients with ARB,indicating that TGS can be a more accurate and efficient tool for identifying mutations in specific genes.The novel variants identified further broaden the mutation spectrum of BEST1 in the Chinese population.展开更多
"Formulate the company's development strategy with an international perspective,and build core competitiveness with digital reform and intellectual transformation."Faced with the current complex and seve..."Formulate the company's development strategy with an international perspective,and build core competitiveness with digital reform and intellectual transformation."Faced with the current complex and severe international environment and the pressure of weak market demand,business operations must be planned from a high point with a new thinking operation.Jiang Zhongwei,Chairman of Best Garment Group is deeply aware that the only way to enhance competitiveness,open a new pattern,and achieve a new future is to continuously cultivate new quality productivity,take the global market as the guider,and push forward the systematic innovation of the whole production factors.展开更多
Background:High-fidelity simulation has been demonstrated to make great progress in learning.However,there is still ongoing exploration on how to fully harness the advantages of this teaching method and enhance its ef...Background:High-fidelity simulation has been demonstrated to make great progress in learning.However,there is still ongoing exploration on how to fully harness the advantages of this teaching method and enhance its effectiveness.This study conducted high-fidelity simulation in medical nursing based on the Healthcare Simulation Standards of Best Practice and evaluated its effect.Methods:The study was conducted from September 2019 to June 2020.A total of 82 undergraduate nursing students from a university in Shanghai participated in the high-fidelity simulation in medical nursing.The simulation design scale,educational practices in simulation scale,and students’satisfaction and self-confidence were used to evaluate the effect.Results:The mean score of simulation design scale was 4.06±0.63 with the mean scores of all dimensions being over 3.0.The mean score of educational practices in simulation scale was 4.14±0.56 with the mean scores of all dimensions being over 4.0.The mean scores of students’satisfaction and self-confidence were 4.07±0.72 and 3.89±0.58,respectively.Conclusion:Students reported high levels of simulation design and educational practices in simulation.They were also satisfied with learning and reported high levels of self-confidence.Some key points need to be considered so that the learning effects might be optimized.展开更多
目的检索并汇总维持性血液透析(maintenance hemodialysis,MHD)患者不宁腿综合征(restless legs syndrome,RLS)症状管理的最佳证据,为临床实践提供循证依据。方法系统检索国内外数据库及指南网站中有关MHD患者RLS症状管理的临床决策、...目的检索并汇总维持性血液透析(maintenance hemodialysis,MHD)患者不宁腿综合征(restless legs syndrome,RLS)症状管理的最佳证据,为临床实践提供循证依据。方法系统检索国内外数据库及指南网站中有关MHD患者RLS症状管理的临床决策、指南、证据总结、系统评价、专家共识及随机对照试验,检索时限为建库至2024年5月30日。结果共纳入14篇文献,包括4篇临床决策、2篇指南、1篇证据总结和7篇系统评价,汇总出29条最佳证据,包括管理受益、诊断与管理、危险/加重因素、评估与监测、透析优化、补充替代疗法、药物治疗和健康教育8个方面。结论本研究汇总了MHD患者RLS症状管理的最佳证据,为医护人员临床实践提供了循证依据。展开更多
文摘Objective:Autosomal recessive bestrophinopathy(ARB),a retinal degenerative disease,is characterized by central visual loss,yellowish multifocal diffuse subretinal deposits,and a dramatic decrease in the light peak on electrooculogram.The potential pathogenic mechanism involves mutations in the BEST1 gene,which encodes Ca2+-activated Cl−channels in the retinal pigment epithelium(RPE),resulting in degeneration of RPE and photoreceptor.In this study,the complete clinical characteristics of two Chinese ARB families were summarized.Methods:Pacific Biosciences(PacBio)single-molecule real-time(SMRT)sequencing was performed on the probands to screen for disease-causing gene mutations,and Sanger sequencing was applied to validate variants in the patients and their family members.Results:Two novel mutations,c.202T>C(chr11:61722628,p.Y68H)and c.867+97G>A,in the BEST1 gene were identified in the two Chinese ARB families.The novel missense mutation BEST1 c.202T>C(p.Y68H)resulted in the substitution of tyrosine with histidine in the N-terminal region of transmembrane domain 2 of bestrophin-1.Another novel variant,BEST1 c.867+97G>A(chr11:61725867),located in intron 7,might be considered a regulatory variant that changes allele-specific binding affinity based on motifs of important transcriptional regulators.Conclusion:Our findings represent the first use of third-generation sequencing(TGS)to identify novel BEST1 mutations in patients with ARB,indicating that TGS can be a more accurate and efficient tool for identifying mutations in specific genes.The novel variants identified further broaden the mutation spectrum of BEST1 in the Chinese population.
文摘"Formulate the company's development strategy with an international perspective,and build core competitiveness with digital reform and intellectual transformation."Faced with the current complex and severe international environment and the pressure of weak market demand,business operations must be planned from a high point with a new thinking operation.Jiang Zhongwei,Chairman of Best Garment Group is deeply aware that the only way to enhance competitiveness,open a new pattern,and achieve a new future is to continuously cultivate new quality productivity,take the global market as the guider,and push forward the systematic innovation of the whole production factors.
基金supported by Fudan Good Practice Program of Teaching and Learning(2019C003).
文摘Background:High-fidelity simulation has been demonstrated to make great progress in learning.However,there is still ongoing exploration on how to fully harness the advantages of this teaching method and enhance its effectiveness.This study conducted high-fidelity simulation in medical nursing based on the Healthcare Simulation Standards of Best Practice and evaluated its effect.Methods:The study was conducted from September 2019 to June 2020.A total of 82 undergraduate nursing students from a university in Shanghai participated in the high-fidelity simulation in medical nursing.The simulation design scale,educational practices in simulation scale,and students’satisfaction and self-confidence were used to evaluate the effect.Results:The mean score of simulation design scale was 4.06±0.63 with the mean scores of all dimensions being over 3.0.The mean score of educational practices in simulation scale was 4.14±0.56 with the mean scores of all dimensions being over 4.0.The mean scores of students’satisfaction and self-confidence were 4.07±0.72 and 3.89±0.58,respectively.Conclusion:Students reported high levels of simulation design and educational practices in simulation.They were also satisfied with learning and reported high levels of self-confidence.Some key points need to be considered so that the learning effects might be optimized.
文摘目的检索并汇总维持性血液透析(maintenance hemodialysis,MHD)患者不宁腿综合征(restless legs syndrome,RLS)症状管理的最佳证据,为临床实践提供循证依据。方法系统检索国内外数据库及指南网站中有关MHD患者RLS症状管理的临床决策、指南、证据总结、系统评价、专家共识及随机对照试验,检索时限为建库至2024年5月30日。结果共纳入14篇文献,包括4篇临床决策、2篇指南、1篇证据总结和7篇系统评价,汇总出29条最佳证据,包括管理受益、诊断与管理、危险/加重因素、评估与监测、透析优化、补充替代疗法、药物治疗和健康教育8个方面。结论本研究汇总了MHD患者RLS症状管理的最佳证据,为医护人员临床实践提供了循证依据。
