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Phenylketonuria in Hong Kong Chinese： a call for hyperphenylalaninemia newborn screening in the Special Administrative Region, China

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Chinese Medical Journal 2011年第16期124卷 2556-2558页

作者： Chloe Miu Mak Chun-hung Ko Ching-wan lam Wai-ling Lau Wai-kwan Siu sammy pak-lam chen Chun-yiu Law Chi-kong Lai Chak-man Yu Albert Yan-wo Chan Kowloon West Cluster Laboratory Genetic Service ChemicalPathology Laboratory Department of Pathology Princess MargaretHospital Hong Kong China Department of Paediatrics and Adolescent Medicine CaritasMedical Centre Hong Kong China Department of Pathology Li Ka Shing Faculty of Medicine TheUniversity of Hong Kong Hong Kong China

Hyperphenylalaninemia is one of the commonest inborn errors of metabolism affecting approximately 1 in 15 000 live births. Among Chinese, BH4 deficiency leading to hyperphenylalaninemia is much commoner than in Caucasians. Exact diagnosis is important for the treatment and genetic counseling. In 2000, newborn screening for phenylketonuria is mandatory by law in China throughout the whole country. However, it is not yet included in the newborn screening program of the Hong Kong Special Administrative Region, China. Published data on hyperphenylalaninemia among Hong Kong Chinese are largely lacking. We report a 1-year-old Hong Kong Chinese girl with severe 6-pyruvoyl-tetrahydropterin synthase （PTPS） deficiency. The patient presented with infantile hypotonia and was misdiagnosed as cerebral palsy. She had very mild hyperphenylalaninemia （95 IJmol/L）, significantly high phenylalnine-to-tyrosine ratio （3.1）, and ele~,ated prolactin of 1109 m lU/L. Genetic analysis confirmed a homozygous known disease-causing mutation PTS NM_000317.1： c.259C〉T; NP_000308.1： p.P87S in the proband. In our local experience, while the estimated prevalence of hyperphenylalaninemia due to PTPS deficiency was reported to be 1 in 29 542 live births, not a single case of phenylalanine hydroxylase deficiency has been reported. Furthermore, there is a general lack of awareness of inherited metabolic diseases in the community as well as among the medical professionals. Very often, a low index of clinical suspicion will lead to delay in diagnosis, multiple unnecessary and costly investigations, prolonged morbidity and anxiety to the family affected. We strongly recommend that expanded newborn screening for hyperphenylalaninemia should be implemented for every baby born in the Hong Kong Special Administrative Region, China.

关键词： Hong Kong Chinese hyperphenylalaninemia newborn screening phenylketonuria 6-pyruvoyl-tetrahydropterin synthase deficiency

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MELAS, MIDD and Beyond: m.3243A>G MT-TL1 Mutation in Adult Patients

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International Journal of Clinical Medicine 2016年第7期7卷 487-495页

作者： Bun Sheng Man Kei Fong Wing Kwan Ng sammy pak lam chen Chloe Miu Mak Department of Medicine & Geriatrics Princess Margaret Hospital Hong Kong China Department of Pathology Princess Margaret Hospital Hong Kong China

m.3243A>G MT-TL1 mutation is the most common mitochondrial DNA mutation that results in a wide spectrum of disorders in a maternally inherited pedigree. In adult patients, many present with symptoms and signs indistinguishable from acquired diseases and the correct diagnosis is often delayed after many years. Nevertheless, clues suggesting m.3243A>G usually exist early in the disease course but are only realized late. These hints, from the evolution of symptoms and signs, family background, investigation results, or a combination of these, enable the physician to make the correct diagnosis early, which is important for appropriate treatment and better patient care. As with other inheritable diseases, genetic counselling should be offered regarding the disease management, inheritance mode, recurrence risk, usefulness and limitations of genetic testing and reproductive options.

关键词： Mitochondrial Disease MELAS m.3243A>G

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Analysis of inborn errors of metabolism： disease spectrum for expanded newborn screening in Hong Kong

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Chinese Medical Journal 2011年第7期124卷 983-989页

作者： Han-Chih Hencher Lee Chloe Miu Mak Ching-Wan lam Yuet-Ping Yuen, Angel On-Kei Chan Chi-Chung Shek Tak-Shing Siu Chi-Kong Lai Chor-Kwan Ching Wai-Kwan Siu sammy pak-lam chen Chun-Yiu Law Morris Hok-Leung Tai Sidney Tam Albert Yan-Wo Chan Chemical Pathology Laboratory Department of Pathology Princess Margaret Hospital Hong Kong SAR China Division of Clinical Biochemistry Queen Mary Hospital Hong Kong SAR China Department of Pathology Li Ka Shing Faculty of Medicine The University of Hong Kong Hong Kong SAR China Chemical Pathology Laboratory Department of Pathology Queen Elizabeth Hospital Hong Kong SAR China

Background Data of classical inborn errors of metabolism （IEM） of amino acids, organic acids and fatty acid oxidation are largely lacking in Hong Kong, where mass spectrometry-based expanded newborn screening for IEM has not been initiated. The current study aimed to evaluate the approximate incidence, spectrum and other characteristics of classical IEM in Hong Kong, which would be important in developing an expanded newborn screening program for the local area.

关键词： biochemical genetics chemical pathology expanded newborn screening Hong Kong," inborn errorsof metabolism tandem mass spectrometry

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A modified θ projection model for constant load creep curves-Ⅱ.Application of creep life prediction

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Journal of Materials Science & Technology 2019年第4期35卷 687-694页

作者： Chao Fu Yadong chen Xiaofei Yuan sammy Tin Stoichko Antonov Koichi Yagi Qiang Feng Beijing Advanced Innovation Center for Materials Genome Engineering State Key Laboratory for Advanced Metals and MaterialsUniversity of Science and Technology Beijing Department of Mechanical Materials& Aerospace EngineeringIllinois Institute of Technology National Center for Materials Service Safety University of Science and Technology Beijing

To minimize the deviation of the predicted creep curves obtained under constant load conditions by the original θ projection model, a new modified version that can be expressed by ε = θ_1(1-e^(-θ2t)) +θ3 (e^(θ_4e^θ5^εt)-1), was derived and experimentally validated in our last study. In the present study, the predictive capability of the modified θ projection model was investigated by comparing the simulated and experimentally determined creep curves of K465 and DZ125 superalloys over a range of temperatures and stresses. Furthermore, the linear relationship between creep temperature and initial stress was extended to the 5-parameter model. The results indicated that the modified model could be used as a creep life prediction method, as it described the creep curve shape and resulted in predictions that fall within a specified error interval. Meanwhile, this modified model provides a more accurate way of describing creep curves under constant load conditions. The limitations and future direction of the modified model were also discussed. In addition, this modified θ projection model shows great potential for the evaluation and assessment of the service safety of structural materials used in components governed by creep deformation.

关键词： Superalloy Constant load creep Modified θ projection model Uniform deformation stage Prediction performance

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A modified θ projection model for constant load creep *** of the model

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Journal of Materials Science & Technology 2019年第1期35卷 223-230页

作者： Chao Fu Yadong chen Xiaofei Yuan sammy Tin Stoichko Antonov Koichi Yagi Qiang Feng Beijing Advanced Innovation Center for Material Genome Engineering State Key Laboratory for Advanced Metals and Materials University of Science and Technology Beijing Department of Mechanical Materials & Aerospace Engineering Illinois Institute of Technology National Center for Materials Service Safety University of Science and Technology Beijing

Estimating long-term creep deformation and life of materials is an effective way to ensure the service safety and to reduce the cost of long-term integrity evaluation of high temperature structural *** the 1980 s, the θ projection model has been widely used for predicting creep lives due to its ability to capture the characteristic transitions observed in creep curves obtained under constant true stress conditions. However, the creep rupture behavior under constant load or engineering stress conditions cannot be simulated accurately using this model because of the different stress states. In this paper, creep curves obtained under constant load conditions were analyzed using a modified θ projection model by considering the increase in true stress with creep deformation during the creep tests. This model is expressed as ε = θ_1(1-e^(-θ_2t)) + θ3 e^(θ_4e^θ5^εt)-1, and was validated using the creep curves of K465 and DZ125 superalloys tested at a range of temperatures and engineering stresses. Moreover, it was shown that the predictive capability of the modified θ projection model was significantly improved over the original one, as it reduces the prediction uncertainty from a range of 10% to 20% to below 5%. Meanwhile,it was shown that the model can be reasonably used for predicting constant stress creep conditions, when appropriate parameters are used. The prediction performance of the modified model will be discussed in another paper. The results of this study show great potential for the evaluation and assessment of the service safety of structural materials used in applications where designs are limited by creep deformation.

关键词： Superalloy Creep Life prediction Modified θ projection model Constant load creep

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Elimination of Hepatitis C in Liver Transplant Recipients

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Journal of Clinical and Translational Hepatology 2018年第3期6卷 247-250页

作者： sammy Saab Youssef Challita Phillip H.chen Melissa A.Jimenez Alex D.Lee Elena G.Saab Timothy Ahn Gina Choi Francisco A.Durazo Mohamed M.El-Kabany Steven-Huy B.Han Jonathan Grotts Vatche G.Agopian Ronald W.Busuttil Department of Medicine University of California at Los AngelesLos AngelesCaliforniaUSA Department of Surgery at the University of California at Los Angeles Los AngelesCaliforniaUSA

Background and Aims:Recurrent hepatitis C(HCV)disease in liver transplant(LT)recipients is associated with significant morbidity and *** the availability of noninterferon-based therapy,eliminating HCV may be achievable in LT ***:We studied all consecutive recipients who underwent LT at the University of California Los Angeles be-tween January 2005 and June *** collected data on date of transplant and last follow-up,as well as laboratory *** also recorded type and timing of antiviral therapy relative to *** were performed to assess the proportion of LT recipi-ents who are viremic after ***:Six hundred thirty-four patients underwent LTwith a diagnosis of *** was a statistically significant trend for patients to be cured be-fore(p<0.001)and after liver transplantation(p<0.001)for the study period of 2014 to 2016 relative to 2005 and 2013,*** the 634 recipients eligible for therapy,8%and 74%were treated within 12 months of transplant for the study periods 2005 to 2013 and 2014 to 2016,*** was a significant decrease between the two study periods in the proportion of patients undergoing re-LT 1 year after the original LT:5.5%(n=28/510)and 1.5%(n=2/124)respec-tively for study periods 2005 to 2013 and 2014 to 2016 respec-tively(p=0.011).Conclusions:The proportion of LTrecipients who are viremic has decreased over *** HCV in LT recipients is feasible after the introduction of direct-acting *** HCV should translate to improved clinical out-comes in LT recipients who were transplanted for HCV infection with longer *** results suggest the de-creased need for transplant in the direct-acting agents era.

关键词： Hepatitis C Direct-acting agents Liver transplant Elimination

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Measurement of Br(n,γ)cross sections up to stellar s-process temperatures at the CSNS Back‑n

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Nuclear Science and Techniques 2023年第11期34卷 226-241页

作者： Gao‑Le Yang Zhen‑Dong An Wei Jiang Xian‑Kai Li Wei‑Wei Qiu Zheng‑Fa Liao Zi‑Yue Zhuang Xiao‑Ping Zhang Sheng‑Li chen chen‑chen Guo Er‑Xi Xiao Xiao Fang Xin‑Xiang Li Xin‑Rong Hu Bing Jiang Jin‑cheng Wang Jie Ren Wen Luo Zhi‑Chao Zhu Hao‑Yang Lan Zong‑Wei Cao Xu Ma Ying‑Du Liu Pu‑Sen Wang Yi Yang Ping Su Xian‑Gai Deng Wan‑Bing He Chun‑Wang Ma Yu‑Ting Wang Zhi‑Tao Dai Peng‑Qin He Ren‑Guang Tang Tao Zhou Jing Wang Han Yi Yue Zhang Yong‑Hao chen Rui‑Rui Fan Ke‑Qing Gao Qiang Li Kang Sun Zhi‑Xin Tan Min‑Hao Gu Han‑Tao Jing Jing‑Yu Tang School of Physics and Astronomy Sun Yat-sen UniversityZhuhai 519082China Shanghai Institute of Applied Physics Chinese Academy of SciencesShanghai 201800China State Key Laboratory of Lunar and Planetary Sciences Macao University of Science and TechnologyMacao 999078China CNSA Macao Center for Space Exploration and Science Macao 999078China Institute of High Energy Physics Chinese Academy of SciencesBeijing 100049China Spallation Neutron Source Science Center Dongguan 523803China School of Nuclear Science and Technology University of South ChinaHengyang 421001China Sino‑French Institute of Nuclear Engineering and Technology Sun Yat-sen UniversityZhuhai 519082China University of Chinese Academy of Sciences Beijing 100049China Key Laboratory of Nuclear Data China Institute of Atomic EnergyBeijing 102413China School of Materials Science and Engineering Xiangtan UniversityXiangtan 411100China Key Laboratory of Nuclear Physics and Ion‑beam Application(MOE) Institute of Modern PhysicsDepartment of Nuclear Science and TechnologyFudan UniversityShanghai 200433China Institute of Particle and Nuclear Physics Henan Normal UniversityXinxiang 453007China School of Physics Henan Normal UniversityXinxiang 453007China Shenzhen Center Cancer hospitalChinese Academy of Medical SciencesShenzhen 518100China School of Nuclear Science and Technology University of Science and Technology of ChinaHefei 230027China

The neutron capture cross sections(n,γ)of bromine were obtained using the time-of-flight technique at the Back-n facility of the China Spallation Neutron ***γ-rays originating from neutron-induced capture events were detected using four C_(6)D_(6) *** pulse-height weighting technique and double-bunch unfolding method based on Bayesian theory were used in the data *** deductions,normalization,and corrections were carefully considered to obtain reliable measurement *** multilevel R-matrix Bayesian code sammy was used to extract the resonance parameters in the resolved resonance region(RRR).The average cross sections in the unresolved resonance region(URR)were obtained from 10 to 400 *** experimental results were compared with data from several evaluated libraries and previous experi-ments in the RRR and *** TALYS code was used to describe the average cross sections in the *** astrophysical Maxwell average cross sections(MACSs)of ^(79,81)Br from kT=5 to 100 keV were calculated over a sufficiently wide range of neutron *** a thermal energy of kT=30 keV,the MACS value for ^(79)Br 682±68 mb was in good agreement with the KADoNiS v1.0 recommended *** contrast,the value of 293±29 mb for ^(81)Br was substantially higher than that of the evaluated database and the KADoNiS v1.0 recommended value.

关键词： Time-of-flight technique Neutron capture cross sections Maxwell average cross sections

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基于白光中子源的^(197)Au中子辐射俘获截面测量及共振参数分析

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物理学报 2024年第7期73卷 104-113页

作者：罗淏天张奇玮栾广源王晓宇邹翀任杰阮锡超贺国珠鲍杰孙琪黄翰雄王朝辉吴鸿毅顾旻皓余滔解立坤陈永浩安琪白怀勇鲍煜曹平陈昊磊陈琪萍陈裕凯陈朕崔增琪樊瑞睿封常青高可庆韩长材韩子杰何泳成洪杨黄蔚玲黄锡汝季筱璐吉旭阳蒋伟江浩雨姜智杰敬罕涛康玲康明涛李波李超李嘉雯李论李强李晓李样刘荣刘树彬刘星言穆奇丽宁常军齐斌斌任智洲宋英鹏宋朝晖孙虹孙康孙晓阳孙志嘉谭志新唐洪庆唐靖宇唐新懿田斌斌王丽娇王鹏程王琦王涛峰文杰温中伟吴青彪吴晓光吴煊羊奕伟易晗于莉于永积张国辉张林浩张显鹏张玉亮张志永赵豫斌周路平周祖英朱丹阳朱科军朱鹏朱兴华中国原子能科学研究院核数据重点实验室北京102413 中国科学院高能物理研究所北京100049 散裂中子源科学中心东莞523803 核探测与核电子学国家重点实验室北京100049 中国科学技术大学近代物理系核探测与核电子学国家重点实验室合肥230026 北京大学物理学院核物理与核技术国家重点实验室北京100871 中国工程物理研究院核物理与化学研究所绵阳621900 西北核技术研究院西安710024 中国科学院大学北京100049 中国科学技术大学工程与应用物理系合肥230026 北京航空航天大学物理学院北京100083 华能山东石岛湾核电有限公司荣成264312

中子辐射俘获反应在反应堆运行、核装置设计及核天体物理研究中起重要的作用.4πBaF_(2)探测装置有着高时间分辨能力、低中子灵敏度、高探测效率等优点,适合开展中子辐射俘获反应截面数据的测量.中国原子能科学研究院核数据重点实验室... 详细信息

中子辐射俘获反应在反应堆运行、核装置设计及核天体物理研究中起重要的作用.4πBaF_(2)探测装置有着高时间分辨能力、低中子灵敏度、高探测效率等优点,适合开展中子辐射俘获反应截面数据的测量.中国原子能科学研究院核数据重点实验室建立了伽马全吸收装置(Gamma total absorption facility,GTAF),该装置用28块六棱BaF_(2)晶体和12块五棱BaF_(2)晶体构成了外径25 cm,内径10 cm的球壳,覆盖了95.2%的立体角.利用GTAF在中国散裂中子源Back-n束线上,测量了197Au(n,γ)的反应截面数据.测量数据通过能量筛选、PSD方法、晶体多重性筛选进行了初步本底扣除,随后结合对^(nat)C及空样品的测量数据对本底进行了分析及扣除,获得了197Au俘获反应的产额,利用sammy程序拟合得到了^(197)Au在1—100 e V的共振能量、中子共振宽度和伽马共振宽度参数.实验测量结果与ENDF/B-VIII.0数据库符合良好,其共振参数存在一定差异,分析原因可能与GTAF能量分辨率、Back-n的中子能谱测量精度、以及实验本底扣除方法相关,这也是下一步工作的重点.

关键词：中子辐射俘获截面共振参数白光中子源伽马全吸收装置

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Neutron capture cross section of ^(169)Tm measured at the CSNS Back-n facility in the energy region from 30 to 300 keV

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Chinese Physics C 2022年第4期46卷 92-104页

作者： Jie Ren Xichao Ruan Wei Jiang Jie Bao Jincheng Wang Qiwei Zhang Guangyuan Luan Hanxiong Huang Yangbo Nie Zhigang Ge Qi An Huaiyong Bai Yu Bao Ping Cao Haolei chen Qiping chen Yonghao chen Yukai chen Zhen chen Zengqi Cui Ruirui Fan Changqing Feng Keqing Gao Minhao Gu Changcai Han Zijie Han Guozhu He Yongcheng He Yang Hong Weiling Huang Xiru Huang Xiaolu Ji Xuyang Ji Haoyu Jiang Zhijie Jiang Hantao Jing Ling Kang Mingtao Kang Bo Li Chao Li Jiawen Li Lun Li Qiang Li Xiao Li Yang Li Rong Liu Shubin Liu Xingyan Liu Qili Mu Changjun Ning Binbin Qi Zhizhou Ren Yingpeng Song Zhaohui Song Hong Sun Kang Sun Xiaoyang Sun Zhijia Sun Zhixin Tan Hongqing Tang Jingyu Tang Xinyi Tang Binbin Tian Lijiao Wang Pengcheng Wang Qi Wang Taofeng Wang Zhaohui Wang Jie Wen Zhongwei Wen Qingbiao Wu Xiaoguang Wu Xuan Wu Likun Xie Yiwei Yang Han Yi Li Yu Tao Yu Yongji Yu Guohui Zhang Linhao Zhang Xianpeng Zhang Yuliang Zhang Zhiyong Zhang Yubin Zhao Luping Zhou Zuying Zhou Danyang Zhu Kejun Zhu Peng Zhu Key Laboratory of Nuclear Data China Institute of Atomic EnergyBeijing 102413China Institute of High Energy Physics Chinese Academy of Sciences(CAS)Beijing 100049China Spallation Neutron Source Science Center Dongguan 523803China State Key Laboratory of Particle Detection and Electronics Department of Modern Physics University of Science and Technology of ChinaHefei 230026China State Key Laboratory of Nuclear Physics and Technology School of PhysicsPeking UniversityBeijing 100871China Institute of Nuclear Physics and Chemistry China Academy of Engineering PhysicsMianyang 621900China Northwest Institute of Nuclear Technology Xi'an 710024China University of Chinese Academy of Sciences Beijing 100049China Department of Engineering and Applied Physics University of Science and Technology of ChinaHefei 230026China School of Physics Beihang UniversityBeijing 100083China

The capture cross sections of the ^(169)Tm(n,γ)reaction were measured at the back streaming white neutron beam line(Back-n)of the China Spallation Neutron Source(CSNS)using four C_(6)D_(6) liquid scintillation *** background subtraction,normalization,and correction were carefully considered in the data analysis to obtain accurate cross *** the resonance at 3.9 eV,the R-matrix code sammy was used to determine the resonance parameters with the internal normalization *** average capture cross sections of ^(169)Tm for energy between 30 and 300 keV were extracted relative to the ^(197)Au(n,γ)*** measured cross sections of the ^(169)Tm(n,γ)reaction were reported in logarithmically equidistant energy bins with 20 bins per energy decade with a total uncertainty of 5.4%-7.0% in this study and described in terms of average resonance parameters using a Hauser-Feshbach calculation with *** point-wise cross sections and the average resonance parameters showed fair agreement with the evaluated values of the ENDF/B-Ⅷ.0 library in the energy region studied.

关键词： ^(169)Tm(n,γ)^(170)Tm reaction capture cross section PHWT CSNS Back-n white neutron source

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文学文体学视角下《A&P》两个中译本的对比赏析

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牡丹江教育学院学报 2014年第4期 29-31页

作者：尹青陈燕昭通学院外国语学院云南昭通657000 云南师范大学外国语学院云南昆明650500

约翰·厄普代克的著名短篇小说《A&P》的文体特点鲜明,故事始终从性格叛逆的男青年萨米的角度以第一人称的方式讲述,人物语言富于口语化、个性化和强烈的感情色彩。从文学文体学的角度对小说的两个中译本进行对比赏析,可发现该作品独特... 详细信息

约翰·厄普代克的著名短篇小说《A&P》的文体特点鲜明,故事始终从性格叛逆的男青年萨米的角度以第一人称的方式讲述,人物语言富于口语化、个性化和强烈的感情色彩。从文学文体学的角度对小说的两个中译本进行对比赏析,可发现该作品独特的文体特点和人物个性化的语言。

关键词：文学文体学口语体修辞文体特点

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