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Clinical characteristics of patients with congenital long QT syndrome and bigenic mutations

Chinese Medical Journal 2014年第8期127卷 1482-1486页

作者： Juang Jyh-Ming Jimmy Chen Ching-yu Yeh Huei-Ming Chiu Wei-Yih yu chih-chieh Liu Yen-Bin Tsai Chia-Ti Lo Li-Wei Yeh Shih-Fan Sherri Lai Ling-Ping Cardiovascular Center and Division of Cardiology Department of Internal Medicine Department of Anesthesiology Department of Environmental and Occupational Medicine Division of Endocrinology and Metabolism Department of Internal Medicine Taiwan University Hospital and Taiwan University College of Medicine Taipei Taiwan China

Background Congenital long QT syndrome （LQTS） is an ion channelopathy associated with genetic mutations. It is well known that most LQTS patients （91%） have a single mutation. The purpose of this study was to investigate the clinical characteristics of congenital LQTS patients with bigenic mutations in Taiwan, China. Methods Congenital LQTS patients were recruited consecutively at Taiwan University Hospital in Taiwan from 2003 to 2009. The diagnosis of LQTS was defined by an LQTS Schwartz score greater than 4. Mutation screening in KCNQ1, KCNH2, KCNE1, and SCN5A was performed using direct sequencing. Results Three of 16 LQTS patients （18.7%） were identified with bigenic mutations. One patient had missense mutations in KCNQ1 and KCNH2, the second in KCNQ1 and KCNE1, and the third in KCNH2 and SCN5A. The mean age at onset of LQTS for patients with bigenic mutations was （17±3） years, and all of these patients were female. Two of them experienced seizure and one presented with syncope, although one of them had a family history of syncope. The mean QTc interval was （515＋17） ms, similar to those with single mutation or SNPs （（536~74） ms, P=-0.63）. Compared to those LQTS patients with single mutation or SNPs, a significantly higher percentage of LQTS patients with bigenic mutations presented with seizure and were younger at onset of the first index event （P=0.03 and 0.001, respectively）, but lower percentage of them presented with sudden cardiac death （P=0.03）. Conclusions Although the percentage of bigenic mutations in LQTS is less than 10% in Caucasian populations, we identified 3 of 16 LQTS patients （18.7%, 95% confidence interval： 0.04-0.46） with bigenic mutations in Taiwan. However, the sevedtv of their clinical presentations was not hioher than those patients with sinele mutation or SNPs.

关键词： long QTsyndrome genetic mutation Taiwan Chinese

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Nanostructured ZnO/BiVO_(4)I-scheme heterojunctions for piezocatalytic degradation of organic dyes via harvesting ultrasonic vibration energy

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International Journal of Minerals,Metallurgy and Materials 2025年第2期32卷 488-497页

作者： Yiling Li Xiaoyao yu Yingjie Zhou Yao Lin Ying Wu Key Laboratory of the Ministry of Education for Advanced Catalysis Materials College of Chemistry and Materials ScienceZhejiang Normal UniversityJinhua 321004China

BiVO_(4)porous spheres modified by ZnO were designed and synthesized using a facile two-step *** resulting ZnO/BiVO_(4)composite catalysts have shown remarkable efficiency as piezoelectric catalysts for degrading Rhodamine B(RhB)unde mechanical vibrations,they exhibit superior activity compared to pure *** 40wt%ZnO/BiVO_(4)heterojunction composite displayed the highest activity,along with good stability and *** enhanced piezoelectric catalytic activity can be attributed to the form ation of an I-scheme heterojunction structure,which can effectively inhibit the electron-hole ***,hole(h+)and superoxide radical(·O_(2)^(-))are proved to be the primary active ***,ZnO/BiVO_(4)stands as an efficient and stable piezoelectric catalyst with broad potential application in the field of environmental water pollution treatment.

关键词： piezoelectric catalytic heterojunction dye degradation ultrasonic vibration

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Interconnections between diabetic corneal neuropathy and diabetic retinopathy:diagnostic and therapeutic implications

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Neural Regeneration Research 2025年第8期20卷 2169-2180页

作者： Mingyi yu Faith Teo En Ning Chang Liu yu-Chi Liu Tissue Engineering and Stem Cell Group Singapore Eye Research InstituteSingapore Yong Loo Lin School of Medicine National University of SingaporeSingapore Department of Cornea and External Eye Disease Singapore National Eye CenterSingapore Ophthalmology and Visual Sciences Academic Clinical Program Duke-NUS Medical SchoolSingapore

Diabetic corneal neuropathy and diabetic retinopathy are ocular complications occurring in the context of diabetes *** corneal neuropathy refers to the progressive damage of corneal *** retinopathy has traditionally been considered as damage to the retinal ***,growing evidence suggests that diabetic retinopathy is a complex neurovascular disorder resulting from dysfunction of the neurovascular unit,which includes both the retinal vascular structures and neural *** retinopathy is one of the leading causes of blindness and is frequently screened for as part of diabetic ocular ***,diabetic corneal neuropathy is commonly overlooked and underdiagnosed,leading to severe ocular surface *** studies have found that these two conditions tend to occur together,and they share similarities in their pathogenesis pathways,being triggered by a status of chronic *** review aims to discuss the interconnection between diabetic corneal neuropathy and diabetic retinopathy,whether diabetic corneal neuropathy precedes diabetic retinopathy,as well as the relation between the stage of diabetic retinopathy and the severity of corneal *** also endeavor to explore the relevance of a corneal screening in diabetic eyes and the possibility of using corneal nerve measurements to monitor the progression of diabetic retinopathy.

关键词： cornea corneal nerves diabetes diabetic corneal neuropathy diabetic retinopathy retina

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Tilting homeostatic and dyshomeostatic microglial balance in health and disease:transforming growth factor-beta1 as a critical protagonist

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Neural Regeneration Research 2025年第10期20卷 2895-2897页

作者： Nicolas Hugues yu Luo Department of Molecular and Cellular Biosciences University of CincinnatiCincinnatiOHUSA Neuroscience Graduate Program University of CincinnatiCincinnatiOHUSA Division of Immunobiology Cincinnati Children’s Hospital Medical CenterUniversity of Cincinnati College of MedicineCincinnatiOHUSA

Adult microglia,by continuously sensing changes in their environment and communicating with nearly all brain cell types,are considered to be the immune sentinels of the *** the healthy central nervous system(CNS),microglia display a unique molecular homeostatic signature(i.e.,Tmem119,P2ry12,Sall1,Siglech,Gpr34,and Hexb)(Figure 1A).

关键词： Figure signature critical

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Unraveling the significance of cobalt on transformation kinetics,crystallography and impact toughness in high-strength steels

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International Journal of Minerals,Metallurgy and Materials 2025年第2期32卷 380-390页

作者： Yishuang yu Jingxiao Zhao Xuelin Wang Hui Guo Zhenjia Xie Chengjia Shang Collaborative Innovation Center of Steel Technology University of Science and Technology BeijingBeijing 100083China School of Materials Science and Engineering Shanghai Jiao Tong UniversityShanghai 200240China State Key Laboratory for Advanced Metals and Materials University of Science and Technology BeijingBeijing 100083China

This work reveals the significant effects of cobalt(Co)on the microstructure and impact toughness of as-quenched highstrength steels by experimental characterizations and thermo-kinetic *** results show that the Co-bearing steel exhibits finer blocks and a lower ductile-brittle transition temperature than the steel without ***,the Co-bearing steel reveals higher transformation rates at the intermediate stage with bainite volume fraction ranging from around 0.1 to *** improved impact toughness of the Co-bearing steel results from the higher dense block boundaries dominated by the V1/V2 variant ***,the addition of Co induces a larger transformation driving force and a lower bainite start temperature(BS),thereby contributing to the refinement of blocks and the increase of the V1/V2 variant *** findings would be instructive for the composition,microstructure design,and property optimization of high-strength steels.

关键词： high-strength steel cobalt transformation kinetics crystallography impact toughness

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Co/Co_(7)Fe_(3)heterostructures with controllable alloying degree on carbon spheres as bifunctional electrocatalyst forrechargeable zinc-air batteries

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International Journal of Minerals,Metallurgy and Materials 2025年第2期32卷 476-487页

作者： Junkang Chen Yongyue Zhuang Yanxin Qiao yu Zhang Aihua yuan Hu Zhou School of Materials Science and Engineering Jiangsu University of Science and TechnologyZhenjiang 212003China School of Environmental and Chemical Engineering Jiangsu University of Science and TechnologyZhenjiang 212003China

Exploring efficient and nonprecious metal electrocatalysts of oxygen reduction reaction(ORR)and oxygen evolution reaction(OER)is crucial for developing rechargeable zinc-air batteries(ZABs).Herein,an alloying-degree control strategy was employed to fabricate nitrogen-doped carbon sphere(NCS)decorated with dual-phase Co/Co_(7)Fe_(3)heterojunctions(CoFe@NCS).The phase composition of materials has been adjusted by controlling the alloying *** optimal CoFe_(0.08)@NCS electrocatalyst displays a half-wave potential of 0.80 V for ORR and an overpotential of 283 mV at 10 mA·cm^(-2)for OER in an alkaline *** intriguing bifunctional electrocatalytic activity and durability is attributed to the hierarchically porous structure and interfacial electron coupling of highly-active Co_(7)Fe_(3)alloy and metallic Co *** the CoFe_(0.08)@NCS material is used as air-cathode catalyst of rechargeable liquid-state zinc-air battery(ZAB),the device shows a high peak power-density(157 mW·cm^(-2))and maintains a stable voltage gap over 150 h,outperforming those of the benchmark(Pt/C+RuO_(2))-based *** particular,the as-fabricated solid-state flexible ZAB delivers a reliable compatibility under different bending *** work provides a promising strategy to develop metal/alloy-based electrocatalysts for the application in renewable energy conversion technologies.

关键词： bifunctional electrocatalysts oxygen reduction reaction oxygen evolution reaction zinc-air battery metal/alloy carbon sphere

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Mechanistic insight into the synergy between nickel single atoms and nanoparticles on N-doped carbon for electroreduction of CO2

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Journal of Energy Chemistry 2025年第1期100卷 327-336页

作者： Mingdong Sun Wenwen Guan Cailing Chen Chao Wu Xiaoling Liu Biao Meng Tao Chen yu Han Jun Wang Shibo Xi yu Zhou State Key Laboratory of Materials-Oriented Chemical Engineering College of Chemical Engineering Nanjing Tech University Advanced Membranes and Porous Materials Center Physical Sciences and Engineering Division King Abdullah University of Science and Technology Institute of Sustainability for Chemicals Energy and Environment A*STAR (Agency for Science Technology and Research) College of Materials Science and Engineering Sichuan University

The synergy of single atoms （SAs） and nanoparticles （NPs） has demonstrated great potential in promoting the electrocatalytic carbon dioxide reduction reaction （CO2RR）;however,the rationalization of the SAs/NPs proportion remains one challenge for the catalyst ***,a Ni2+-loaded porous poly（ionic liquids）(PIL) precursor synthesized through the free radical self-polymerization of the ionic liquid monomer,1-allyl-3-vinylimidazolium chloride,was pyrolyzed to prepare the Ni,N co-doped carbon materials,in which the proportion of Ni SAs and NPs could be facilely modulated by controlling the annealing *** catalyst Ni-NC-1000 with a moderate proportion of Ni SAs and NPs exhibited high efficiency in the electrocatalytic conversion of CO2into *** Ni K-edge X-ray absorption near-edge structure （XANES） spectra and theoretical calculations were conducted to gain insight into the synergy of Ni SAs and *** charge transfer from Ni NPs to the surrounding carbon layer and then to the Ni SAs resulted in the electron-enriched Ni SAs active *** the electroreduction of CO2,the coexistence of Ni SAs and NPs strengthened the CO2activation and the affinity towards the key intermediate of*COOH,lowering the free energy for the potential-determining*CO2→*COOH step,and therefore promoted the catalysis efficiency.

关键词： Single atom catalyst Synergy effect Carbon catalyst Electrocatalysis

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Taxonomic synopsis of Berberis(Berberidaceae)from the northern Hengduan mountains region in China,with descriptions of seven new species

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Plant Diversity 2022年第5期44卷 505-517页

作者： Yao-Ke Li Julian Harber Chuan Peng Zhi-Qiang Du Yao-Wu Xing chih-chieh yu CAS Key Laboratory of Tropical Forest Ecology Xishuangbanna Tropical Botanical GardenChinese Academy of SciencesMenglaYunnan666303China University of Chinese Academy of Sciences Beijing100049China Research Associate Missouri Botanic GardenMytholmroydWest YorkshireUK Center of Plant Ecology Core Botanical GardensChinese Academy of SciencesMenglaYunnan666303China

Though Berberis(Berberidaceae)is widely distributed across the Eurasian landmass it is most diverse in the Himalaya-Hengduan Mountain(HHM)*** are more than 200 species in China where it is one of the most common mountain *** study on the taxonomy and evolution of Berberis in this region can thus provide an important insight into the origin and diversification of its flora.A prerequisite to this is mapping and describing the various species of Berberis in the region-a task that despite recent progress is by no means *** is clear that in China there may be a significant number of species still to be described and that even with published species much about their distribution remains to be *** a contribution to the first of these tasks seven new species from the northern Hengduan Mountain of *** and ***:Berberis chinduensis,Berberis degexianensis,Berberis jiajinshanensis,Berberis jinwu,Berberis litangensis,Berberis longquensis and Berberis riparia,are described *** in overall morphology and especially in floral structures with each other and with similar species of Berberis in the same region are *** report is the result of phylogenetic analyses based on plastome and partial nrDNA sequences of both the seven proposed new species and a significant number of similar species already *** conclusions as to the insights provides on the history of the genetic divergence are discussed.

关键词： Berberidaceae Flora of China Herbarium taxonomy Plastome sequences nrDNA sequences

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Silk damping in scalar-induced gravitational waves: a novel probe for new physics

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Science China(Physics,Mechanics & Astronomy) 2025年第1期Mechanics & Astronomy) .卷 79-85页

作者： Yan-Heng yu Sai Wang Theoretical Physics Division Institute of High Energy Physics Chinese Academy of Sciences School of Physics University of Chinese Academy of Sciences

Silk damping is well known in the study of cosmic microwave background（CMB） and accounts for suppression of the angular power spectrum of CMB on large angular multipoles. In this article, we study the effect of Silk damping on the scalar-induced gravitational waves（SIGWs）. Resulting from the dissipation of cosmic fluid, the Silk damping notably suppresses the energydensity spectrum of SIGWs on scales comparable to a diffusion scale at the decoupling time of weakly-interacting particles. The effect offers a novel observable for probing the underlying particle interaction, especially for those mediated by heavy gauge bosons beyond the standard model of particles. We anticipate that pulsar timing arrays are sensitive to gauge bosons with mass ～10～3-10～4 GeV, while space-and ground-based interferometers to those with mass ～10～7-1012GeV, leading to essential complements to on-going and future experiments of high-energy physics.

关键词： scalar-induced gravitational waves Silk damping new physics

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Improved super-elastic Ti-Ni alloy wire for treating adult skeletal class III with facial asymmetry:A case report

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World Journal of Clinical Cases 2023年第21期11卷 5147-5159页

作者： Chun-Yi Huang yuan-Hou Chen chih-chieh Lin Jian-Hong yu School of Dentistry China Medical UniversityTaichung 40402TaiwanChina

BACKGROUND Correcting severe skeletal class III malocclusion with facial asymmetry in adults through orthodontic treatment alone is *** SUMMARY In this case report,we describe orthodontic treatment and lower incisor extraction without orthognathic surgery for a 27-year-old man with a transverse *** extraction sites were closed using an elastic *** use of intermaxillary elastics,improved super-elastic Ti-Ni alloy wire,and unilateral multibend edgewise arch wire was crucial for correcting facial asymmetry and the midline *** After treatment,the patient had a more symmetrical facial appearance,acceptable overjet and overbite,and midline *** treatment results remained stable 3 years after *** case report demonstrates that a minimally invasive treatment can successfully correct severe skeletal class III malocclusion with facial asymmetry.

关键词： Skeletal class III malocclusion Facial asymmetry Dentistry Orthodontics Facial asymmetry Lower incisor extraction Case report

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