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The occurrence,inheritance,and segregation of complex genomic structural variation in synthetic Brassica napus
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作者 Dandan Hu Jin Lu +12 位作者 Wenwen Li Yinghui Yang Junxiong Xu Han Qin Hao Wang Yan Niu Huaiqi Zhang Qingqing Liu Xiangxiang He Annaliese S.Mason JChris Pires Zhiyong Xiong Jun Zou 《The Crop Journal》 SCIE CSCD 2024年第2期515-528,共14页
"Synthetic"allopolyploids recreated by interspecific hybridization play an important role in providing novel genomic variation for crop improvement.Such synthetic allopolyploids often undergo rapid genomic s... "Synthetic"allopolyploids recreated by interspecific hybridization play an important role in providing novel genomic variation for crop improvement.Such synthetic allopolyploids often undergo rapid genomic structural variation(SV).However,how such SV arises,is inherited and fixed,and how it affects important traits,has rarely been comprehensively and quantitively studied in advanced generation synthetic lines.A better understanding of these processes will aid breeders in knowing how to best utilize synthetic allopolyploids in breeding programs.Here,we analyzed three genetic mapping populations(735 DH lines)derived from crosses between advanced synthetic and conventional Brassica napus(rapeseed)lines,using whole-genome sequencing to determine genome composition.We observed high tolerance of large structural variants,particularly toward the telomeres,and preferential selection for balanced homoeologous exchanges(duplication/deletion events between the A and C genomes resulting in retention of gene/chromosome dosage between homoeologous chromosome pairs),including stable events involving whole chromosomes("pseudoeuploidy").Given the experimental design(all three populations shared a common parent),we were able to observe that parental SV was regularly inherited,showed genetic hitchhiking effects on segregation,and was one of the major factors inducing adjacent novel and larger SV.Surprisingly,novel SV occurred at low frequencies with no significant impacts on observed fertility and yield-related traits in the advanced generation synthetic lines.However,incorporating genome-wide SV in linkage mapping explained significantly more genetic variance for traits.Our results provide a framework for detecting and understanding the occurrence and inheritance of genomic SV in breeding programs,and support the use of synthetic parents as an important source of novel trait variation. 展开更多
关键词 ALLOPOLYPLOID Large Genome structural variation Linkage mapping Synthetic polyploids inheritance and segregation
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Inheritance and Innovation of Chinese Filial Piety Culture Restated
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作者 HAO Haiyan 《Philosophy Study》 2024年第5期236-245,共10页
Chinese traditional filial piety culture has gained widespread acceptance in contemporary social life and has been inherited and carried forward in a variety of ways instead of fading away with the development of econ... Chinese traditional filial piety culture has gained widespread acceptance in contemporary social life and has been inherited and carried forward in a variety of ways instead of fading away with the development of economy and society.Meanwhile,under the background of urbanization,industrialization,and modernization,traditional filial piety also faces many new challenges.This paper puts forward the reflections and countermeasures concerning the inheritance and innovation of filial piety culture in the new era from perspectives of concept connotation,publicity and education,institutional guarantee,funding source,and social organizations. 展开更多
关键词 China filial piety culture inheritance INNOVATION
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Research on the Innovation of Traditional Music Cultural Inheritance
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作者 Qi Sun 《Journal of Contemporary Educational Research》 2024年第9期255-259,共5页
Traditional music is an important source of Chinese civilization and has a profound impact on the origin,enrichment,leap forward,and sublimation of Chinese culture.Starting from the three dimensions of history,people,... Traditional music is an important source of Chinese civilization and has a profound impact on the origin,enrichment,leap forward,and sublimation of Chinese culture.Starting from the three dimensions of history,people,and integration,it is important to inherit,carry forward,and spread the contemporary value of traditional music culture.We should focus on the inheritance of historical dimension,reposition the unique function of traditional music culture,strengthen the ecological protection of traditional music culture,and advocate excavation protection,purification protection,and promotion protection.Additionally,we focus on the development of the people dimension,adhere to the people-centered creative orientation,grasp the needs of the people,reflect their aspirations,and strive to enhance the timeliness and attraction of national music.We also focus on the communication of integration dimension,leverage the characteristic advantages of emerging media communication,promote the cross-border integration of the traditional music industry and related fields,respond to the focus and interaction of music audience services,and promote the construction of a modern three-dimensional communication system of traditional music. 展开更多
关键词 Traditional music CULTURE inheritance INNOVATION DIMENSION
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Exploration of the Inheritance and Innovation Carrier of National Culture in the Teaching Model of Art Design Major in Higher Vocational Colleges:Integrating Lijiang Baisha Murals into Higher Vocational Art Design Curriculum System
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作者 Tingting Wang 《Journal of Contemporary Educational Research》 2024年第1期165-172,共8页
This study aims to further promote the inheritance and innovative development of intangible cultural heritage in Yunnan Province,promote the protection,inheritance,integration,and innovation of ethnic culture in Lijia... This study aims to further promote the inheritance and innovative development of intangible cultural heritage in Yunnan Province,promote the protection,inheritance,integration,and innovation of ethnic culture in Lijiang,strengthen the protection and inheritance of Baisha murals in Lijiang,and change the teaching of art design majors in vocational colleges in Yunnan.Given the lack of traditional Chinese culture and local ethnic culture,this article focuses on the teaching of art design majors in Yunnan vocational colleges.It explores the construction model of the cultural inheritance and innovation carrier of Lijiang Baisha murals to meet the spiritual and cultural needs of the local people,and efforts will be made to promote the high-quality development of the Baisha ethnic area in Lijiang. 展开更多
关键词 Baisha murals National culture inheritance and innovation Art design major
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Higher rates of autism and attention deficit/hyperactivity disorder in American children:Are food quality issues impacting epigenetic inheritance? 被引量:1
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作者 Renee J Dufault Raquel A Crider +4 位作者 Richard C Deth Roseanne Schnoll Steven G Gilbert Walter J Lukiw Amanda L Hitt 《World Journal of Clinical Pediatrics》 2023年第2期25-37,共13页
In the United States,schools offer special education services to children who are diagnosed with a learning or neurodevelopmental disorder and have difficulty meeting their learning goals.Pediatricians may play a key ... In the United States,schools offer special education services to children who are diagnosed with a learning or neurodevelopmental disorder and have difficulty meeting their learning goals.Pediatricians may play a key role in helping children access special education services.The number of children ages 6-21 in the United States receiving special education services increased 10.4%from 2006 to 2021.Children receiving special education services under the autism category increased 242%during the same period.The demand for special education services for children under the developmental delay and other health impaired categories increased by 184%and 83%respectively.Although student enrollment in American schools has remained stable since 2006,the percentage distribution of children receiving special education services nearly tripled for the autism category and quadrupled for the developmental delay category by 2021.Allowable heavy metal residues remain persistent in the American food supply due to food ingredient manufacturing processes.Numerous clinical trial data indicate heavy metal exposures and poor diet are the primary epigenetic factors responsible for the autism and attention deficit hyperactivity disorder epidemics.Dietary heavy metal exposures,especially inorganic mercury and lead may impact gene behavior across generations.In 2021,the United States Congress found heavy metal residues problematic in the American food supply but took no legislative action.Mandatory health warning labels on select foods may be the only way to reduce dietary heavy metal exposures and improve child learning across generations. 展开更多
关键词 Lead exposure MERCURY Oxidative stress Methylation patterns Epigenetic inheritance AUTISM
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Lack of fitness cost and inheritance of resistance to abamectin based on the establishment of a near-isogenic strain of Tetranychus urticae
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作者 ZHANG Yan TIAN Tian +5 位作者 ZHANG Kun ZHANG You-jun WU Qing-jun XIE Wen GUO Zhao-jiang WANG Shao-li 《Journal of Integrative Agriculture》 SCIE CAS CSCD 2023年第6期1809-1819,共11页
Many populations of the two-spotted spider mite, Tetranychus urticae Koch, have developed high levels of resistance to the pesticide abamectin in China and other countries. This study developed a near-isogenic line to... Many populations of the two-spotted spider mite, Tetranychus urticae Koch, have developed high levels of resistance to the pesticide abamectin in China and other countries. This study developed a near-isogenic line to understand better the inheritance, cross-resistance, and fitness costs associated with abamectin resistance in the field population of T. urticae in China. We introduced the trait that confers extremely high abamectin resistance in a field-collected population of T. urticae into a susceptible laboratory strain(IPP-SS) to generate an abamectin-resistant near-isogenic line(NIL-Aba).This process was carried out through multiple backcrossing to IPP-SS and via parthenogenesis and abamectin screening. Compared with IPP-SS, the NIL-Aba strain had a 25 147-fold resistance to abamectin and a high level of cross-resistance to bifenthrin(288.17-fold), an intermediate level to emamectin benzoate(42.57-fold), and low levels to bifenazate, chlorfenapyr, cyflumetofen, cyenopyrafen, and cyetpyrafen with resistance ranging from 3.18-to 9.31-fold.But it had no cross-resistance to profenofos. The resistance to abamectin in NIL-Aba was autosomal, incompletely dominant, and polygenic. Based on two sex life table parameters, no fitness cost was found in NIL-Aba. Establishing the NIL-Aba strain provides a reliable basis for an in-depth study of abamectin resistance in T. urticae. New information on toxicological characteristics and fitness cost should facilitate the management of abamectin resistance in field populations of T. urticae. 展开更多
关键词 two-spotted spider mite abamectin resistance near-isogenic strain inheritance pattern fitness cost
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Inheritance and Innovation of Regional Cultures in Architectural Designs of Yichang
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作者 XU Jing MAO Mao ZHU Yuandong 《Journal of Landscape Research》 2023年第3期67-70,74,共5页
Against the background of outstanding traditional Chinese culture and the innovation-drivendevelopment strategy, this study analyzed regional cultures of Yichang where ancient Ba and Chu culturesmet and blended, propo... Against the background of outstanding traditional Chinese culture and the innovation-drivendevelopment strategy, this study analyzed regional cultures of Yichang where ancient Ba and Chu culturesmet and blended, proposed regional architectural designs adapted to modern conditions, fully clarified thedesign concepts of “deeply exploring, highly condensing, making the past serve the present, inheriting andinnovating” through analyzing the design cases in many regional architectural projects. The paper aimedat further inheriting and developing the outstanding traditional Chinese cultures, and provided theoreticalreferences for future designs. 展开更多
关键词 Regional culture Ba-Chu culture Traditional architecture inheritance and innovation
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Research on Inheritance and Innovation of Children's Folk Sports Culture in the Junction Area Between Chongqing and Hubei
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作者 Huang Shanying Ye Qiong Xiang Hulin 《Contemporary Social Sciences》 2023年第2期146-155,共10页
This paper examines the current status and development dilemma of the children’s folk sports culture in the junction area between Chongqing and Hubei with reference to relevant literature.After the literature review ... This paper examines the current status and development dilemma of the children’s folk sports culture in the junction area between Chongqing and Hubei with reference to relevant literature.After the literature review and summary,the study finds there are several factors restricting the inheritance and development of the children’s folk sports culture in the area,including insufficiency of theoretical analysis,weak public support in cities,blind imitation of modern sports culture,and absence of policy support.To address the above problems,we put forward several suggestions to promote the inheritance and development of children’s folk sports game culture.First,we should focus on the theoretical research and cultural dissemination of children’s folk sports culture.Second,we should improve the basic rules of children’s folk sports games.Third,importance should be attached to government support in developing children’s folk sports game culture.Fourth,we should ensure the continuation and inheritance of children’s folk sports culture via school activities.Finally,we should carry forward children’s folk sports culture and explore ways to develop excellent cultural tourism. 展开更多
关键词 CHILDREN folk sports cultural inheritance junction area between Chongqing and Hubei
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Discussion on Cultural Inheritance of Water Parks in the Yellow River Basin
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作者 Yongsheng TANG Lingjie HAN +1 位作者 Cun CHANG Zhihao LIAO 《Meteorological and Environmental Research》 CAS 2023年第2期15-20,27,共7页
At the Symposium on Ecological Protection and High-quality Development of the Yellow River Basin, General Secretary Xi Jinping pointed out that "it should deeply explore the time value contained in the Yellow Riv... At the Symposium on Ecological Protection and High-quality Development of the Yellow River Basin, General Secretary Xi Jinping pointed out that "it should deeply explore the time value contained in the Yellow River culture, tell the story of the Yellow River well, and protect, inherit and carry forward the Yellow River culture". Water park is an important carrier of the Yellow River culture transmission. In this paper, the basic characteristics and regional distribution of water parks in the Yellow River basin are analyzed. For the problems faced by cultural heritage of water parks in the Yellow River basin, from three aspects of exploring and integrating the connotation, innovating communication methods, and shaping brand IP, cultural heritage of water parks in the Yellow River basin is discussed. It is beneficial to carry forward the Yellow River culture, and better meet the spiritual and cultural needs of the people. 展开更多
关键词 Yellow River culture Water park Cultural inheritance
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Inheritance and Development of Guangxi Minority Musical Instruments and Their Integration With Operas
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作者 HUANG Lanchun 《Psychology Research》 2023年第9期420-424,共5页
The traditional musical instrument of minorities converges the evolution of ethnic group culture and history,and ethnic musical instruments are a core component of minority culture.The traditional instruments of Guang... The traditional musical instrument of minorities converges the evolution of ethnic group culture and history,and ethnic musical instruments are a core component of minority culture.The traditional instruments of Guangxi minorities are rich and varied,and an all-round cultural inheritance and protection mechanism should be used for ethnic musical instruments,so that the performance form of classical musical instruments of minorities can be more widely understood and mastered.Therefore,in this paper,we discuss the specific practice idea of the inheritance and development of classical musical instruments of Guangxi minorities,and facilitate the innovation of development path of ethnic musical instruments by taking the inheritance form of integrating musical instruments with operas. 展开更多
关键词 MUSICAL instruments of GUANGXI MINORITIES inheritance and development INTEGRATION with OPERAS
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On ecological inheritance construction of intangible cultural heritage in era of intellectual media
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作者 HAo Wen-jing 《Ecological Economy》 2023年第2期163-174,共12页
It is known that intangible cultural heritage is an important resource of the cultural soft power in a country, and it is also an organic component and representation of national history, spirit and cohesion.Therefore... It is known that intangible cultural heritage is an important resource of the cultural soft power in a country, and it is also an organic component and representation of national history, spirit and cohesion.Therefore, a good inheritance of intangible cultural heritage is of great significance for carrying forward the ethical basis of human culture as well as maintaining its value core. Nowadays, the rapid intelligentization of media has ushered in the era of intellectual media, with characteristics of “massive media, man-machine integration and self-evolution”. In the era of intellectual media, traces of intelligent technologies can be seen everywhere, and the ecology of the inheritance of intangible cultural heritage has been reconstructed. Under this circumstance, the author firstly makes clarification of the advancement of the era, which has given a new logic of intangible cultural heritage inheritance, and various intelligent powers should be developed including intelligent acquisition, processing and judgement ability of content value. Then, the technology empowerment is analyzed, which has made reconstruction of intangible cultural heritage inheritance: while being digitalized,the inheritance of intangible cultural heritage has become systematized in way of “Points, Lines and Planes” at the same time. Therefore, the communication ecology of intangible cultural heritage could be established as a new approach of inheritance via all sorts of intelligent technologies, so as to promote Chinese cultural soft power and enhance our national image in the long run. 展开更多
关键词 era of intellectual media intangible cultural heritage cultural inheritance ecological construction
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School Education and Inheritance of Ethnic Culture in Minority Areas-Take School Education in Tibetan Areas as an Example
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作者 WANG Lianhua SHI Ruiqing 《Cultural and Religious Studies》 2023年第1期44-49,共6页
Ethnic education is an important way to inherit ethnic culture.Under the background of cultural globalization and cultural diversification,minority cultures are facing the danger of extinction and change.Schools in mi... Ethnic education is an important way to inherit ethnic culture.Under the background of cultural globalization and cultural diversification,minority cultures are facing the danger of extinction and change.Schools in minority areas give full play to their own advantages and become the main places to train students to master ethnic culture in a purposeful,planned,and organized way.However,there are also many problems in school education in the inheritance of national culture,such as the content of school education and national culture cannot be effectively integrated,teachers lack scientific and effective teaching methods,teaching activities content cannot be flexibly used.In this regard,we should excavate the national cultural resources in school education,improve the professional quality and skills of teachers,and enhance the national consciousness of teachers,so as to improve the quality of school education and realize the effective inheritance of national culture.Taking Tibetan areas as an example,this paper analyzes the advantages,existing problems,and solutions of the school in Tibetan cultural traditions. 展开更多
关键词 Tibetan region school education national culture inheritance
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A Study on the Inheritance Path of Red Music in Universities Under the Multicultural Background
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作者 XU Lu CHANG Lan +2 位作者 HE Jinghao CAI Yushan LIU Juzhi 《Sino-US English Teaching》 2023年第12期501-508,共8页
Red music culture is a cultural form created by the people led by the Communist Party of China(CPC)in the process of revolution,construction,and reform.The inheritance and dissemination of this cultural form in univer... Red music culture is a cultural form created by the people led by the Communist Party of China(CPC)in the process of revolution,construction,and reform.The inheritance and dissemination of this cultural form in universities,especially in the context of multiculturalism,has important social and cultural value.This study takes the red music culture in Shanghai as the research carrier,and explores the inheritance path of red music in universities through background investigation,theoretical research,specific practice,and achievement display.The research results show that red music culture can be effectively inherited and promoted by strengthening the construction of the red music culture cloud platform in universities,integrating red music culture resources into the campus environment,and promoting it in Chinese,English,and Japanese on social media.In addition,this study also explores the effective role of red music culture in establishing correct ideals and beliefs among college students. 展开更多
关键词 red music in universities inheritance path MULTICULTURALISM Shanghai
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Application and Practice of Traditional Chinese Medicine Characteristic Technology Inheritance in Research and Development of Traditional Chinese Medicine Preparations in Medical Institutions
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作者 Xiu CHENG Hai ZHAO +2 位作者 Shujie KOU Mingqin CHEN Liang YANG 《Agricultural Biotechnology》 CAS 2023年第5期88-90,107,共4页
Medical institution preparations play an important role in the development of hospitals,being one of the main forms of traditional Chinese medicine clinical characteristic medication,as well as an important carrier fo... Medical institution preparations play an important role in the development of hospitals,being one of the main forms of traditional Chinese medicine clinical characteristic medication,as well as an important carrier for the inheritance and innovation of traditional Chinese medicine.In recent years,the research and development of traditional Chinese medicine preparations has become a hot spot in the research and development of preparations by medical institutions.Traditional Chinese medicine preparations prepared by traditional processes and their entrusted preparation matters have changed from the current licensing management to filing management.The registration model of traditional Chinese medicine preparations has undergone significant changes,emphasizing more on real data and evaluation results from the objective world,respecting traditional medication experience,and emphasizing the inheritance and innovative development of traditional technological experience.In the process of following teachers in the inheritance project of traditional Chinese medicine,we combined the inheritance of traditional Chinese medicine characteristic technology with the research and development practice of traditional Chinese medicine preparations in medical institutions,and focused on the analysis and discussion of technical problems such as prescription screening,dosage form selection,process route design and clinical observation of traditional Chinese medicine preparations,hoping to provide reference for scholars in the same field of traditional Chinese medicine. 展开更多
关键词 inheritance of traditional Chinese medicine characteristic technology Traditional Chinese medicine preparation Medical institutions Practical analysis
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The Inheritance and Deviation of the Subjective Construction“You Bei X Dao(有被X到)”
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作者 YANG Yaqin 《Sino-US English Teaching》 2023年第2期80-84,共5页
Sentence“bei”(“被”字句)and“bei xx”(被xx)provide syntactic and semantic basis for the generation of the construction“You Bei X Dao(有被x到)”.They are in a continuum and have family similarity.The sentence“bei... Sentence“bei”(“被”字句)and“bei xx”(被xx)provide syntactic and semantic basis for the generation of the construction“You Bei X Dao(有被x到)”.They are in a continuum and have family similarity.The sentence“bei”is a typical member,while“bei xx”is an atypical member.Because the construction“You Bei X Dao”has a single function and less attention,it is at the edge of the continuum and is a marginal member.However,it has certain research value in the inheritance and innovation of“bei”and“bei xx”. 展开更多
关键词 “bei”sentence “bei xx” construction“You Bei X Dao” inheritance deviation
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The Aesthetic Inheritance of the Mao Dun Literature Prize in the Flux-Take Xu Mao and His Daughters and A Tale of the Wind as Examples
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作者 ZHU Yan-lin 《Journal of Literature and Art Studies》 2023年第6期399-404,共6页
The Mao Dun Literature Prize is one of the well-known literary awards in China,and in the process of selection over the years,the Mao Dun Literature Prize has developed its own aesthetic orientation.A comparison is ma... The Mao Dun Literature Prize is one of the well-known literary awards in China,and in the process of selection over the years,the Mao Dun Literature Prize has developed its own aesthetic orientation.A comparison is made between the early generation of Xu Mao and His Daughters and the recent award-winning work,A Tale of the Wind,to discover the aesthetic heritage in its flux,which is enlightening for the literary criticism and an orientation for the literary creators. 展开更多
关键词 Mao Dun Literature Prize esthetic inheritance Xu Mao and his daughters A Tale of the Wind
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Contemporary Inheritance of the Legend of ZHANG Zhongjing's Practicing Medicine in the Clinic
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作者 蔡丽娜 李东阳 +5 位作者 李青雅 张海燕 刘晓婷 陈安 徐立然 焦云洞 《World Journal of Integrated Traditional and Western Medicine》 2023年第2期46-52,共7页
From the perspective of narratology, this paper explores the contemporary inheritance of the medical legacy of Zhang Zhongjing's practice medicine in the clinic. Its inheritance mode includes: the enrichment of la... From the perspective of narratology, this paper explores the contemporary inheritance of the medical legacy of Zhang Zhongjing's practice medicine in the clinic. Its inheritance mode includes: the enrichment of language and characters and the narratio of romance, the spatial reductive narratio of cultural landscape, the body expressive narratio of ritual behavior. This makes the legend more concerned with the real society, enhances the regional cultural image, develops the local economy, and confidences to the practices role of carrying forward the response and mission of practicing medicine to save people. Compared with the previous academic circle, which previous focus on the textual research of the dispute over its historical authentication, or focus on the retrospective study of its historical origin, this paper is based on the research perspective of historical inheritance, which is constructive to the living inheritance and protection of legends. 展开更多
关键词 TCM treatment in the clinic LEGEND Narratio inheritance
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Facing ethical concerns in the age of precise gene therapy:Outlook on inherited arrhythmias
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作者 Federico Carbone Fabrizio Montecucco 《World Journal of Cardiology》 2024年第2期64-66,共3页
This editorial,comments on the article by Spartalis et al published in the recent issue of the World Journal of Cardiology.We here provide an outlook on potential ethical concerns related to the future application of ... This editorial,comments on the article by Spartalis et al published in the recent issue of the World Journal of Cardiology.We here provide an outlook on potential ethical concerns related to the future application of gene therapy in the field of inherited arrhythmias.As monogenic diseases with no or few therapeutic options available through standard care,inherited arrhythmias are ideal candidates to gene therapy in their treatment.Patients with inherited arrhythmias typically have a poor quality of life,especially young people engaged in agonistic sports.While genome editing for treatment of inherited arrhythmias still has theoretical application,advances in CRISPR/Cas9 technology now allows the generation of knock-in animal models of the disease.However,clinical translation is somehow expected soon and this make consistent discussing about ethical concerns related to gene editing in inherited arrhythmias.Genomic off-target activity is a known technical issue,but its relationship with ethnical and individual genetical diversity raises concerns about an equitable accessibility.Meanwhile,the costeffectiveness may further limit an equal distribution of gene therapies.The economic burden of gene therapies on healthcare systems is is increasingly recognized as a pressing concern.A growing body of studies are reporting uncertainty in payback periods with intuitive short-term effects for insurance-based healthcare systems,but potential concerns for universal healthcare systems in the long term as well.Altogether,those aspects strongly indicate a need of regulatory entities to manage those issues. 展开更多
关键词 ETHICS inherited arrhythmias CRISPR/Cas9 Gene therapy Equitable accessibility
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Immune remodulation in pediatric inherited metabolic liver diseases
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作者 Yi-Chi Wu Xue-Lin Xiang +10 位作者 June-Kong Yong Meng Li Lin-Man Li Zi-Cheng Lv Yi Zhou Xi-Cheng Sun Zi-Jie Zhang Huan Tong Xiao-Ying He Qiang Xia Hao Feng 《World Journal of Hepatology》 2024年第9期1258-1268,共11页
Inherited metabolic liver diseases arise from genetic mutations that lead to dis-ruptions in liver metabolic pathways and are predominantly observed in pedia-tric populations.The spectrum of genetic metabolic liver di... Inherited metabolic liver diseases arise from genetic mutations that lead to dis-ruptions in liver metabolic pathways and are predominantly observed in pedia-tric populations.The spectrum of genetic metabolic liver disorders is diverse,encompassing a range of conditions associated with aberrations in iron,copper,carbohydrate,lipid,protein,and amino acid metabolism.Historically,research in the domain of genetic metabolic liver diseases has predominantly concentrated on hepatic parenchymal cell alterations.Nevertheless,emerging studies suggest that inherited metabolic liver diseases exert significant influences on the immune microenvironment,both within the liver and systemically.This review endeavors to encapsulate the immunological features of genetic metabolic liver diseases,aiming to expand the horizons of researchers in this discipline,and to elucidate the underlying pathophysiological mechanisms pertinent to hereditary metabolic liver diseases and to propose innovative therapeutic approaches. 展开更多
关键词 Liver transplantation inherited metabolic liver diseases Immune microen-vironment Genetic metabolic liver diseases IMMUNOTHERAPY
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Genetic variation features of neonatal hyperbilirubinemia caused by inherited diseases
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作者 Jin-Ying You Ling-Yun Xiong +3 位作者 Min-Fang Wu Jun-Song Fan Qi-Hua Fu Ming-Hua Qiu 《World Journal of Clinical Pediatrics》 2024年第4期5-14,共10页
BACKGROUND Genetic factors play an important role in neonatal hyperbilirubinemia(NH)caused by genetic diseases.AIM To explore the characteristics of genetic mutations associated with NH and analyze the correlation wit... BACKGROUND Genetic factors play an important role in neonatal hyperbilirubinemia(NH)caused by genetic diseases.AIM To explore the characteristics of genetic mutations associated with NH and analyze the correlation with genetic diseases.METHODS This was a retrospective cohort study.One hundred and five newborn patients diagnosed with NH caused by genetic diseases were enrolled in this study between September 2020 and June 2023 at the Second Affiliated Hospital of Xiamen Medical College.A 24-gene panel was used for gene sequencing to analyze gene mutations in patients.The data were analyzed via Statistical Package for the Social Sciences 20.0 software.RESULTS Seventeen frequently mutated genes were found in the 105 patients.Uridine 5'-diphospho-glucuronosyltransferase 1A1(UGT1A1)variants were identified among the 68 cases of neonatal Gilbert syndrome.In patients with sodium taurocholate cotransporting polypeptide deficiency,the primary mutation identified was Na+/taurocholate cotransporting polypeptide Ntcp(SLC10A1).Adenosine triphosphatase 7B(ATP7B)mutations primarily occur in patients with hepatolenticular degeneration(Wilson's disease).In addition,we found that UGT1A1 and glucose-6-phosphate dehydrogenase mutations were more common in the high-risk group than in the low-risk group,whereas mutations in SLC10A1,ATP7B,and heterozygous 851del4 mutation were more common in the low-risk group.CONCLUSION Genetic mutations are associated with NH and significantly increase the risk of disease in affected newborns. 展开更多
关键词 HYPERBILIRUBINEMIA Gene mutation NEONATES Genetic polymorphisms inherited diseases
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