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Novel frameshift mutation in the AHDC1 gene in a Chinese global developmental delay patient:A case report
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作者 Shuang-Zhu Lin Hong-Yan Xie +5 位作者 Yan-Lai Qu Wen Gao Wan-Qi Wang Jia-Yi Li Xiao-Chun Feng Chun-Quan Jin 《World Journal of Clinical Cases》 SCIE 2022年第21期7517-7522,共6页
BACKGROUND Xia–Gibbs syndrome(XGS,OMIM:615829),caused by mutations within the ATHook DNA-binding motif-containing protein 1(AHDC1)gene(OMIM:615790),located on the short arm of chromosome 1 within the cytogenetic band... BACKGROUND Xia–Gibbs syndrome(XGS,OMIM:615829),caused by mutations within the ATHook DNA-binding motif-containing protein 1(AHDC1)gene(OMIM:615790),located on the short arm of chromosome 1 within the cytogenetic band 1p36.11,contains five noncoding 5 exons,a single 4.9-kb coding exon,and a noncoding 3 exon.CASE SUMMARY In this case report,we diagnosed and treated a 6-mo-old girl with XGS.The primary clinical symptoms included global developmental delay,hypotonia,and mild dysmorphic features.Using high-throughput whole-exosome sequencing to sequence the patient and her parents,and the results showed a novel frameshift mutation of c.1155dupG(p.Arg386Alafs*3)in the AHDC1 gene.The paternal gene was wild type.CONCLUSION This report extends the mutation spectrum of the AHDC1 gene to provide the diagnostic basis for genetic counseling in families with XGS. 展开更多
关键词 Xia-Gibbs syndrome AT-Hook DNA-binding motif-containing protein 1 Children global developmental delay Case report
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Global Development of Mobile Value Added Services
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作者 Li Shan (China Academy of Telecommunications Research of Mll, Beijing 100083, China) 《ZTE Communications》 2005年第4期2-5,共4页
With the increasing demand for VAS from the subscribers, mobile operators are making efforts to create more services to promote the continuous development of the non-voice service application. The following three mobi... With the increasing demand for VAS from the subscribers, mobile operators are making efforts to create more services to promote the continuous development of the non-voice service application. The following three mobile VASes are becoming the development focus of operators. 展开更多
关键词 In global development of Mobile Value Added Services VAS UMTS SMS
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Petroleum for Global Development
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《China Oil & Gas》 CAS 2000年第3期1-1,共1页
关键词 Petroleum for global development
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Global Development Finance 2011 Released
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《China Textile》 2011年第1期12-12,共1页
Net capital flows to developing countries fell 20 percent in 2009 to $598 billion and were a little over half the 2007 peak of $1.11 trillion. This is according to a new comprehensive dataset
关键词 GNI NET global development Finance 2011 Released
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A Hybrid Model for Improving Software Cost Estimation in Global Software Development
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作者 Mehmood Ahmed Noraini B.Ibrahim +4 位作者 Wasif Nisar Adeel Ahmed Muhammad Junaid Emmanuel Soriano Flores Divya Anand 《Computers, Materials & Continua》 SCIE EI 2024年第1期1399-1422,共24页
Accurate software cost estimation in Global Software Development(GSD)remains challenging due to reliance on historical data and expert judgments.Traditional models,such as the Constructive Cost Model(COCOMO II),rely h... Accurate software cost estimation in Global Software Development(GSD)remains challenging due to reliance on historical data and expert judgments.Traditional models,such as the Constructive Cost Model(COCOMO II),rely heavily on historical and accurate data.In addition,expert judgment is required to set many input parameters,which can introduce subjectivity and variability in the estimation process.Consequently,there is a need to improve the current GSD models to mitigate reliance on historical data,subjectivity in expert judgment,inadequate consideration of GSD-based cost drivers and limited integration of modern technologies with cost overruns.This study introduces a novel hybrid model that synergizes the COCOMO II with Artificial Neural Networks(ANN)to address these challenges.The proposed hybrid model integrates additional GSD-based cost drivers identified through a systematic literature review and further vetted by industry experts.This article compares the effectiveness of the proposedmodelwith state-of-the-artmachine learning-basedmodels for software cost estimation.Evaluating the NASA 93 dataset by adopting twenty-six GSD-based cost drivers reveals that our hybrid model achieves superior accuracy,outperforming existing state-of-the-artmodels.The findings indicate the potential of combining COCOMO II,ANN,and additional GSD-based cost drivers to transform cost estimation in GSD. 展开更多
关键词 Artificial neural networks COCOMO II cost drivers global software development linear regression software cost estimation
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Overview of the Third Global Forum
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作者 Andrew Yao Xia Yin +1 位作者 Jia Jia Guoliang Li 《计算机教育》 2024年第3期5-9,共5页
Computer science continues to grow at a rapid pace,raising the issue of how universities can best adapt to this trend.At the third Global Forum on the Development of Computer Science(GFDCS),five heads of departments o... Computer science continues to grow at a rapid pace,raising the issue of how universities can best adapt to this trend.At the third Global Forum on the Development of Computer Science(GFDCS),five heads of departments of computer science from Asia,Europe,and North America came together to exchange ideas under the theme Challenges and Opportunities of Computer Science in the New Era.Through the discussions,a number of new challenges were explored,including how to meet the growing demand for computer science education,how to manage increased teaching loads,how to foster collaboration between computer science and other disciplines,how to raise ethical awareness,and how to support new“transdisciplinary”modes of education and research.At the same time,there was a consensus on the need to strengthen the role of computer science in other departments,the importance of industrial collaboration,and the need for more scalable approaches to teaching.The evolving role of computer science within the context of broader science was also discussed. 展开更多
关键词 global Forum on the development of Computer Science Challenges and Opportunities of Computer Science TRANSDISCIPLINARY Computer Science education and research
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Novel mutation c.2090_2091del in neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities in an 18.5-mo-old boy:A case report
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作者 Yi Li Zheng Zhou +1 位作者 Yan Xu Zhi-Ru Wang 《World Journal of Clinical Cases》 SCIE 2023年第16期3891-3898,共8页
BACKGROUND Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities(NECRC)is a rare,autosomal,dominant neurological disorder caused by mutations in the ZMYM2 gene.To date,the clinical and... BACKGROUND Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities(NECRC)is a rare,autosomal,dominant neurological disorder caused by mutations in the ZMYM2 gene.To date,the clinical and functional characteristics of the novel ZMYM2 mutation c.2090_2091del have not yet been reported.CASE SUMMARY The patient was an 18.5-mo-old Chinese boy with motor and language delay,microcephaly,facial dysmorphism,moderate malnutrition,single palmar crease on the left hand,synpolydactyly of the right foot,hypotonia and feeding problems.The boy who was diagnosed with NECRC was enrolled in the First Affiliated Hospital,Henan University of Chinese Medicine,and his clinical data were collected.From the whole-exon sequencing(WES)data,the pathogenic SNVs/InDels were identified,and the molecular findings were characterized.WES revealed that the heterozygous variant in the ZMYM2 gene was c.2090_20-91del,p.Ser697TrpfsTer3,a frameshift mutation,which is a NECRC-related gene mutation.CONCLUSION We performed a systematic literature review to identify and characterize NECRC.Substantial evidence from the literature indicated that patients with ZMYM2 gene mutation showed different degrees of intellectual disability,motor and language retardation,facial dysmorphism,and a few had congenital heart defects,kidney and urinary tract abnormalities.Early diagnosis and prompt management with comprehensive rehabilitation training are beneficial,but may not improve long-term outcomes. 展开更多
关键词 ZMYM2 NECRC Frameshift mutation global developmental delay Case report
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Status, trends and enlightenment of global oil and gas development in 2021 被引量:1
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作者 WANG Zuoqian FAN Zifei +2 位作者 ZHANG Xingyang LIU Baolei CHEN Xi 《Petroleum Exploration and Development》 CSCD 2022年第5期1210-1228,共19页
By analyzing the distribution of global oil and gas fields and the reasons why some oil and gas fields are not in production, the distribution characteristics of oil and gas remaining recoverable reserves and their ye... By analyzing the distribution of global oil and gas fields and the reasons why some oil and gas fields are not in production, the distribution characteristics of oil and gas remaining recoverable reserves and their year-on-year changes, the distribution characteristics of oil and gas production and their year-on-year changes, and the development potential of oil and gas to be tapped in 2021, this paper sorts out systematically the current status and characteristics of global oil and gas development, summaries the major trends of global oil and gas development, puts forward enlightenment for international oil and gas cooperation. In 2021, oil and gas fields were widely distributed, the number of non-producing oil and gas fields was large;the whole oil and gas remaining recoverable reserves declined slightly, unconventional oil and gas remaining recoverable reserves dropped significantly;the overall oil and gas production continuously increased, the outputs of key resource-host countries kept year-on-year growth;undeveloped oilfields had abundant reserves and great development potential. Combined with global oil and gas geopolitics, oil and gas industry development trends, oil and gas investment intensity, and the tracking and judgment of hotspot fields, the major trends of global oil and gas development in 2021 are summarized. On this basis, the four aspects of enlightenment and suggestions for international oil and gas cooperation and development strategies are put forward: attach great importance to the obligation of marine abandonment to ensure high-quality and long-term benefit development of offshore oil and gas;adhere to the principle of not going to dangerous and chaotic places, strengthen the concentration of oil and gas assets, and establish multi stable supply bases;based on the multi-scenario demand of natural gas, realize the transformation from integrated collaboration to full oil and gas industry chain development;increase the acquisition of high-quality large-scale assets, and pay attention to the continuous optimization of the shareholding ratio of projects at different stages. 展开更多
关键词 global oil and gas development development situation development potential development investment oil price oil and gas supply and demand fiscal and tax policies concentration of oil and gas asset
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Process of Global Sustainable Development in the 21^(st) Century
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作者 Editorial Song Zhengben 《International Understanding》 2002年第4期2-2,共1页
关键词 in the 21 CENTURY Process of global Sustainable development
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Promote Economic Globalization in Direction of Sustainable Development in Place of Neoliberal Economic Globalization
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作者 Shan Xiuzhi Council Member of CAFIU 《International Understanding》 2003年第1期27-29,共3页
关键词 in of Promote Economic globalization in Direction of Sustainable development in Place of Neoliberal Economic globalization
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Global Development Equity: Its Ethical Nature and Historical Construction--With a Discussion of the Essence and Problems of the "Theory of China's Neo-colonialism"
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作者 Chen Zhong 《Social Sciences in China》 2011年第2期35-50,共16页
全球发展公正性是权利伦理与责任伦理、现代伦理与历史伦理、主体伦理与生态伦理、个体伦理与整体伦理的具体统一。全球发展公正性建构是一个长期的过程,需要对现代性、社会发展规律、“社会发展总体逻辑”进行更加全面的把握,需要观... 全球发展公正性是权利伦理与责任伦理、现代伦理与历史伦理、主体伦理与生态伦理、个体伦理与整体伦理的具体统一。全球发展公正性建构是一个长期的过程,需要对现代性、社会发展规律、“社会发展总体逻辑”进行更加全面的把握,需要观念、制度、行为等方面的全面蒯整。在权利与责任的具体历史统‘中,“有限全球权利与有限全球责任相统一”是建构全球发展公正性的重要原则。“中国新殖民沦”与西方中心论有内在相关性,中国与发展中国家的和平发展、共同发展、全面发展,及其对全球发展公正性的历史推进,是对“中国新殖民沦”的实践批驳. 展开更多
关键词 发展伦理 全球责任 全球权利 殖民主义 中国模式
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TO Be Involved in Global Competitionis the Way to Development for Enterprises─Introduction of Wanxiang Group Company
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《China's Foreign Trade》 2000年第6期41-42,共2页
关键词 BE Introduction of Wanxiang Group Company TO Be Involved in global Competitionis the Way to development for Enterprises
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Go global to win development space and share growth opportunities
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作者 Shen Da 《China Textile》 2017年第10期48-49,共2页
In 2013,President Xi Jinping first proposed the 'Belt and Road Initiative';the First China Textile Industry Go Global Conference was held at the same year.In 2015,National Development and Reform Commission,Min... In 2013,President Xi Jinping first proposed the 'Belt and Road Initiative';the First China Textile Industry Go Global Conference was held at the same year.In 2015,National Development and Reform Commission,Ministry of Foreign Affairs and the Ministry of Commerce jointly issued the document of 'The vision and action to promote the construction of Silk 展开更多
关键词 In Go global to win development space and share growth opportunities
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Economic Globalization and the Principle of Sustainable Development
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《International Understanding》 2001年第2期7-9,共3页
关键词 Economic globalization and the Principle of Sustainable development
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Strengthening Solidarity, Increasing Cooperation, Promoting Development---International Symposium on Sustainable Development and Solidarity in the Context of Globalization" Held in beijing
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《International Understanding》 2000年第4期6-7,共2页
关键词 International Symposium on Sustainable development and Solidarity in the Context of globalization Strengthening Solidarity Held in beijing Promoting development
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New Development in Global Politics and Rethinking on China's Multilateral Diplomacy
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作者 CHEN Dongxiao Vice President of Shanghai Institutes for International Studies,Dr 《国际展望》 2010年第1期1-21,95,共22页
The new developments in global politics exert three systemic impacts on international relations. Global issues, vital to the survival of mankind, rise to the top agenda of national governments. The epicenter of global... The new developments in global politics exert three systemic impacts on international relations. Global issues, vital to the survival of mankind, rise to the top agenda of national governments. The epicenter of global power is shifting from U.S. and Europe to the rest of the regions. The global "political excitement and zeal" is rolling on. All exact more on the competence of global governance. The current international multilateral mechanisms are in "competence deficit", worsening either in terms of adequacy, validity or legitimacy. The call for the reform of it is ever soaring. China by the way is at once engaging in the multilateral diplomacy transforming the international system and facing the growing pressure of assuming "leadership" and "international responsibility". China needs to continuously adapt to the changed national identity in the multilateral diplomacy, to reconcile the multilateral mechanisms that deal with regions and domains in China's strategic planning and laying-out, to organically associate the short-term and long-term goals and to upgrade the concept of harmonious world in the practice of multilateral diplomacy. 展开更多
关键词 New development in global Politics and Rethinking on China’s Multilateral Diplomacy
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Building a Community with a Shared Future for Mankind and Promoting the Development of Global Human Rights Governance
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作者 崔玉英 LIU Yan 《The Journal of Human Rights》 2017年第4期309-313,共5页
In January this year,President Xi Jinping delivered an important speech entitled"Work Together to Build a Community with a Shared Future for Mankind at the United Nations Office at Geneva,in which he systematical... In January this year,President Xi Jinping delivered an important speech entitled"Work Together to Build a Community with a Shared Future for Mankind at the United Nations Office at Geneva,in which he systematically elaborated on the major concept of a Community with a Shared Future for Mankind,pointing out the direction for reforming and improving global governance and providing China’s proposition 展开更多
关键词 Building a Community with a Shared Future for Mankind and Promoting the development of global Human Rights Governance
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From Copenhagen to Geneva:New Problems Faced in Global Social Development──Summary of a multilateral symposium on Social Development with the Backdrop of Globalization
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作者 Wang Xiaohui 《International Understanding》 2000年第2期6-10,共5页
关键词 Summary of a multilateral symposium on Social development with the Backdrop of globalization From Copenhagen to Geneva
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A Critical Analysis of Global Governance vs.Protection and Development of Human Rights
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作者 He Ying,is vice-president of Heilongjiang University Huo Jianguo,a PhD student at the HU School of Philosophy and Public Management 《The Journal of Human Rights》 2012年第2期23-24,共2页
Human rights merit global attention in the current era of globalization. The realization and protectionof human rights is an important part of the process of global governance. Meanwhile, global governance plays a dou... Human rights merit global attention in the current era of globalization. The realization and protectionof human rights is an important part of the process of global governance. Meanwhile, global governance plays a double role in the protection and development of human rights. On the one hand, global governance and hu- man rights have a lot in common, both calling for democracy under the rule of law and protection of citizen rights. On the other hand, to varying degrees global governance weakens the au- thoritv of sovereien states. 展开更多
关键词 A Critical Analysis of global Governance vs.Protection and development of Human Rights
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郭氏背三针结合头针丛刺法治疗智力障碍/全面发育迟缓儿童的疗效观察
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作者 史华 曹彩红 +6 位作者 侯玉晋 郭鑫 单海军 介小素 娄元俊 梁东林 江凯静 《成都医学院学报》 CAS 2024年第3期451-455,共5页
目的 观察郭氏背三针结合头针丛刺法治疗智力障碍/全面发育迟缓儿童的疗效。方法 选取2022年4月至2023年8月河南省中医院收治的70例全面发育迟缓或智力障碍患儿,采用随机数字表法,将患者分成试验组和对照组,每组各35例,对照组仅给予头... 目的 观察郭氏背三针结合头针丛刺法治疗智力障碍/全面发育迟缓儿童的疗效。方法 选取2022年4月至2023年8月河南省中医院收治的70例全面发育迟缓或智力障碍患儿,采用随机数字表法,将患者分成试验组和对照组,每组各35例,对照组仅给予头针丛刺法配合常规康复训练,试验组在对照组基础上给予郭氏背三针治疗。比较治疗前后儿童神经心理发育量表(Gesell)评分发育商、韦氏儿童智力测试(WISC)评分、婴儿-初中生社会生活能力量表(S-M)评分及脑血流动力学指标[脑动脉平均血流速度(Vm)、收缩期峰流速度(Vs)、血管阻力指数(RI)及血管搏动指数(PI)],比较两组临床疗效和不良事件发生情况。结果 试验组治疗后总有效率(91.43%)较对照组(71.43%)高(P<0.05);治疗后Gesell评分各发育商、WSIC各评分及(≥5岁和<5岁)的S-M评分均较治疗前高,且试验组较对照组高(P<0.05);治疗后Vm、Vs、PI均较治疗前高,且试验组较对照组高(P<0.05);治疗后RI较治疗前低,且试验组较对照组低(P<0.05);两组不良事件发生率比较差异无统计学意义(P>0.05)。结论 郭氏背三针结合头针丛刺法治疗智力障碍/全面发育迟缓儿童疗效明显,可提高儿童的神经发育、智力发育及生活能力,改善脑血流动力学,且有良好的安全性。 展开更多
关键词 智力障碍 全面发育迟缓 儿童 郭氏背三针 头针丛刺法 临床疗效
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