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
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:调查BEST(better&systematic team training)培训法在护士PDA静脉输液查对培训中的效果。方法:采用BEST培训法,包括理论授课+讨论+操作练习+反馈性汇报+录像回放+分析总结流程等对护士进行查对培训,并调查培训的效果。结果:护...目的:调查BEST(better&systematic team training)培训法在护士PDA静脉输液查对培训中的效果。方法:采用BEST培训法,包括理论授课+讨论+操作练习+反馈性汇报+录像回放+分析总结流程等对护士进行查对培训,并调查培训的效果。结果:护士长及骨干和科室普通护士在培训后视频纠错的得分均高于培训前(P<0.001);科室护士查对培训前后得分差异与学历(r=-0.167,P=0.007)、年龄(r=-0.136,P=0.030)、工作年限(r=-0.154,P=0.014)呈负相关,即学历越低,年龄越小,工作年限越短,培训前后得分差异越大,效果越好。结论:BEST训练法能有效提高护士,尤其是低年资护士的查对意识,强化操作流程,是一种理想、科学的在职操作培训方法。展开更多
The problem of strong uniqueness of best approximation from an RS set in a Banach space is considered. For a fixed RS set G and an element x∈X , we proved that the best approximation g * to x from ...The problem of strong uniqueness of best approximation from an RS set in a Banach space is considered. For a fixed RS set G and an element x∈X , we proved that the best approximation g * to x from G is strongly unique.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.
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:调查BEST(better&systematic team training)培训法在护士PDA静脉输液查对培训中的效果。方法:采用BEST培训法,包括理论授课+讨论+操作练习+反馈性汇报+录像回放+分析总结流程等对护士进行查对培训,并调查培训的效果。结果:护士长及骨干和科室普通护士在培训后视频纠错的得分均高于培训前(P<0.001);科室护士查对培训前后得分差异与学历(r=-0.167,P=0.007)、年龄(r=-0.136,P=0.030)、工作年限(r=-0.154,P=0.014)呈负相关,即学历越低,年龄越小,工作年限越短,培训前后得分差异越大,效果越好。结论:BEST训练法能有效提高护士,尤其是低年资护士的查对意识,强化操作流程,是一种理想、科学的在职操作培训方法。
文摘The problem of strong uniqueness of best approximation from an RS set in a Banach space is considered. For a fixed RS set G and an element x∈X , we proved that the best approximation g * to x from G is strongly unique.
