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Variable phenotypes and outcomes associated with the MMACHC c.482G>A mutation:follow-up in a large CblC disease cohort

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World Journal of Pediatrics 2024年第8期20卷 848-858页

作者： Sheng-Nan Wu hui-Shu E Yue Yu Shi-Ying ling li-li liang Wen-Juan Qiu hui-Wen Zhang Rui-Xue Shuai hai-Yan Wei Chi-Ju Yang Peng Xu Xi-Gui Chen hui Zou Ji-Zhen Feng Ting-Ting Niu hai-li hu Kai-Chuang Zhang De-Yun Lu Zhu-Wen Gong Xia Zhan Wen-Jun Ji Xue-Fan Gu Yong-Xing Chen lian-Shu Han Department of Endocrinology and Metabolism Henan Key Laboratory of Children’s Genetics and Metabolic DiseasesChildren’s Hospital Affiliated to Zhengzhou UniversityHenan Children’s HospitalZhengzhou Children’s HospitalNo.255 Gangdu StreetZhengzhouChina Department of Pediatric Endocrinology and Genetics Fujian Children’s HospitalFuzhouChina The Center for Pediatric liver Diseases Children’s HospitalFudan UniversityShanghaiChina Department of Pediatric Endocrinology/Genetics Shanghai Institute for Pediatric ResearchXinhua HospitalSchool of MedicineShanghai Jiao Tong UniversityNo.1665 Kongjiang RoadShanghaiChina Department of Pediatrics Second Affiliated Hospital of Naval Medical UniversityShanghaiChina Center of Neonatal Disease Screening Jining Maternal and Child Health Care HospitalJiningChina Center of Neonatal Disease Screening Jinan Maternal and Child Health Care HospitalJinanChina Center of Neonatal Disease Screening Shijiazhuang Maternal and Child Health Care HospitalShijiazhuangChina Center of Neonatal Disease Screening Shandong Maternal and Child Health Care HospitalJinanChina Center of Neonatal Disease Screening Hefei Maternal and Child Health Care HospitalHefeiChina

Background The aim of this study was to characterize the variable phenotypes and outcomes associated with the methylmalonic aciduria and homocystinuria type C protein gene(MMACHC)c.482G>A mutation in 195 Chinese cases with CblC *** We carried out a national,retrospective multicenter study of 195 Chinese patients with CblC disease attributable to the MMACHC c.482G>A variant either in a homozygous or compound heterozygous *** control group consisted of 200 patients diagnosed with CblC disease who did not possess the c.482G>A *** features,including disease onset,symptoms,biochemical metabolites,gene mutation,and follow-up outcomes were reviewed and analyzed in *** median follow-up period spanned 3 years and 8 months,with a range of 1 year and 2 months to 12 years and 10 *** Among 195 patients carrying the c.482G>A variant,125(64.1%)cases were diagnosed by newborn screening(NBS),60(30.8%)cases were detected due to disease onset,and 10(5.1%)cases were identified from sibling *** hundred and seventeen(93.6%)individuals who were diagnosed by NBS,and nine patients who came from sibling diagnoses remained asymptomatic in this *** 69 symptomatic patients of the c.482G>A group,more patients presented with later onset,and the top six common clinical symptoms at disease onset were developmental delay(59.4%),lower limb weakness and poor exercise tolerance(50.7%),cognitive decline(37.7%),gait instability and abnormal posture(36.2%),seizures(26.1%),and psychiatric and behavioral disturbances(24.6%).In the 159 symptomatic patients lacking c.482G>A variants,the most frequently observed clinical manifestations at disease onset included developmental delay(81.8%),lethargy and feeding difficulty(62.9%),lower limb weakness and poor exercise tolerance(54.7%),prolonged neonatal jaundice(51.6%),vomiting(47.2%),and seizures(32.7%).Before treatment,the levels of blood propionylcarnitine,propionylcarnitine/acetylcarnitine ratio

关键词： c.482G>A CblC disease MMACHC gene Newborn screening Outcome Use our pre-submission checklist Avoid common mistakes on your manuscript.

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A Novel Approach for Rapid Evaluating Cavitation Erosion Resistance of Metallic Materials

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Acta Metallurgica Sinica(English Letters) 2024年第7期37卷 1231-1237页

作者： Yu li Zhenbo Qin Xiaoyang Du Da-hai Xia Zepeng Gao Yiwen Zhang Zhong Wu Wenbin hu Tianjin Key Laboratory of Composite and Functional Materials School of Materials Science and EngineeringTianjin UniversityTianjin300072China Key Laboratory of Advanced Ceramics and Machining Technology(Ministry of Education) Tianjin UniversityTianjin300072China Joint School of National University of Singapore and Tianjin University International Campus of Tianjin UniversityFuzhou350207China

For the evaluation of cavitation erosion resistance of metallic materials,it has always been a time-consuming technical *** paper innovatively proposed a parameter named cavitation hardening rate to characterize the plastic deformation and work hardening behavior of metallic materials during the cavitation process and then found a positive correlation between cavitation hardening rate and strain hardening ***,the relationship between cavitation volume loss and strain hardening index was obtained,and a simple and rapid evaluation method for cavitation erosion resistance was established.

关键词： Cavitation erosion Evaluation method Cavitation hardening rate Volume loss

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(+)/(-)-Gerbeloid A,a pair of unprecedented coumarin-based polycyclic meroterpenoid enantiomers from Gerbera piloselloides:Structural elucidation,semi-synthesis,and lipid-lowering activity

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Acta Pharmaceutica Sinica B 2024年第6期14卷 2657-2668页

作者： Chenxu Zhao Jingrong li Yue hu lingyu li Meng Yu Yunfeng huang Tao Zhang hai Shang Zhongmei Zou State Key Laboratory of Bioactive Substance and Function of Natural Medicines Institute of Medicinal Plant DevelopmentChinese Academy of Medical Sciences&Peking Union Medical CollegeBeijing 100193China Institute of Chinese Medicine Resources Guangxi Institute of Chinese Medicine&Pharmaceutical ScienceNanning 530000China

A pair of coumarin-based polycyclic meroterpenoid enantiomers(+)/(-)-gerbeloid A[(+)-1a and(-)-1b]were isolated from the medicinal plant Gerbera piloselloides,which have a unique caged oxatricyclo[4.***.2.0^(3,8)]decene *** planar and three-dimensional structures were exhaustively characterized by comprehensive spectroscopic data and X-ray diffraction *** by the hypothetical biosynthetic pathway,the biomimetic synthesis of racemic 1 was achieved using 4-hydroxy-5-methylcoumarin and citral as the starting material via oxa-6πelectrocyclization and intramolecular[2+2]***,the results of the biological activity assay demonstrated that both(+)-1a and(-)-1b exhibited potent lipid-lowering effects in 3T3-L1 adipocytes and the high-fat diet zebrafish ***,the lipid-lowering activity of(+)-1a is better than that of(-)-1b at the same concentration,and molecular mechanism study has shown that(+)-1a and(-)-1b impairs adipocyte differentiation and stimulate lipolysis by regulating C/EBPα/PPARγsignaling and Perilipin signaling in vitro and in *** findings provide a promising drug model molecule for the treatment of obesity.

关键词： Gerbera piloselloides Natural products Coumarin meroterpenoid Structural elucidation Biomimetic synthesis lipid-lowering activity 3T3-L1 adipocytes High-fat diet zebrafish model

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Role of bonding filling on HER/OER/ORR multifunctional catalytic activity in transition-metals-doped PdPX(X=S,Se,Te)

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Rare Metals 2024年第10期43卷 5126-5140页

作者： hai-hua huang Wei li Cheng-Chao hu Xue-Qin Sun lin-Guo Lu Xiao-Feng Fan School of Materials Science and Engineering Laboratory of Sensitive Materials and DevicesShandong Department of EducationLiaocheng University School of Environmental and Material Engineering Yantai University Department of Physics University of Puerto Rico Key Laboratory of Automobile Materials (Jilin University) Ministry of EducationCollege of Materials Science and EngineeringJilin University

The development of stable and highly efficien multifunctional electrocatalysts for the hydrogen evolution reaction （HER）,oxygen reduction reaction （ORR） and oxygen evolution reaction （OER） are essential for the efficient conversion and storage of renewable *** significant advantages of single-atom catalysts,such as strong metal slab interactions,unsaturated coordination and efficient atomic utilization,have opened new avenues for designing multifunctional ***,based on density functional theory,a single atom doped PdPX system was designed as a multifunctional electrocatalyst,which demonstrated the synergistic effect between defects and transition metal atoms and led to enhanced catalytic *** results showed that PdPS/PdPSe with P/X vacancy,PdPTe with P/Pd vacancy and Co/Rh/Ir@PdPX exhibited promising HER ***@PdPS（Se）,with an overpotential of 0.56（0.44） V,was predicted to be a promising OER ***,Rh（Ir）@PdPS（Se）catalysts exhibited efficient catalytic properties for ORR Besides,Co@PdPS（Se）,Rh（Ir）@PdPSV（S）,Co@PdP-SeV（Se）and Ir@PdPSV（S）-1exihibited multifunctional catalytic performance with moderate ***,the origin of catalytic activity was revealed by using the crystal orbital Hamilton populations *** a strong adsorption system,proper filling of the anti-bonding state can increase the energy of the system,weaken the adsorption strength,and facilitate the desorption of intermediates Conversely,augmenting bonding states can enhance its adsorption *** findings provide theoretica guidance for the design and fabrication of novel multifunctional electrocatalysts in terms of filling of bondingstate.

关键词： Density functional theory Electrocatalyst Two-dimensional PdPX Water splitting

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Ferromagnetism and insulating behavior with a logarithmic temperature dependence of resistivity in Pb_(10-x)Cux(PO_(4))_(6)O

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Science China(Physics,Mechanics & Astronomy) 2024年第1期67卷 106-111页

作者： Yuhang Zhang Cong liu Xiyu Zhu hai-hu Wen Center for Superconducting Physics and Materials National Laboratory of Solid State Microstructures and Department of PhysicsNational Collaborative Innovation Center of Advanced MicrostructuresNanjing UniversityNanjing 210093China

Recent claim of discovering above-room-temperature superconductivity(Tc≈400 K)at ambient pressure in copper doped apatite Pb10(PO_(4))_(6)O has stimulated world-wide enthusiasm and impulse of motion.A lot of follow-up works have been carried out with controversial *** check whether superconductivity is really present or absent in the material,we need samples which should have a rather pure phase of Pb_(10-x)Cux(PO_(4))_(6)*** we report the characterization results from the Pb_(10-x)Cux(PO_(4))_(6)O with a fraction of about 97 wt.%inferred from the fitting to the X-ray diffraction pattern,if assuming Cu2S as the only *** resistivity measurements show that it is a semiconductor characterized roughly by a ln(1/T)temperature dependence in wide temperature region without trace of *** measurements show that it has a general ferromagnetic signal with a weak superparamagnetic *** grains of the sample show clear interactions with a Nb Fe B *** detected Cu concentration is much lower than the expected nominal *** results show the absence of metallicity and superconductivity in Pb_(10-x)Cux(PO_(4))_(6)O at ambient pressure,and suggest the presence of strong correlation effect.

关键词： superconductivity Pb10(PO4)6O ferromagnetic correlation effect

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Experimental Study on Vortex-Induced Vibration of Rough Risers Coupling with Interference Effect in Tandem Arrangement

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China Ocean Engineering 2024年第3期38卷 394-407页

作者： hu Ze-bo liU Zhen li Peng GUO hai-yan REN Xiao-hui HOU Hao HAO lian-hong College of Civil Engineering and Architecture Shandong University of Science and TechnologyQingdao 266590China Qingdao Key Laboratory of Marine Civil Engineering Materials and Structures Qingdao 266590China College of Engineering Ocean University of ChinaQingdao 266100China

In order to study the response law of vortex-induced vibration(VIV)of marine risers under the combined action of roughness and interference effects,and to reveal the coupling mechanism of roughness and interference effects on the riser,a VIV experiment of rough risers in tandem arrangement was conducted in a wave−current combined *** experiment characterized the risers’roughness by arranging different specifications of attachments on the surface of the *** rough risers with different roughness and smooth risers were arranged in tandem arrangement,with the rough risers arranged *** experimental results indicate that the suppression of the attachments on the downstream risers’vibration are more significant both in the CF and IL directions as the reduced velocity *** the downstream riser,the amplitude response of rough riser is more significantly weakened compared with the smooth one at high reduced *** the upstream risers,changes in the roughness and spacing ratio have an impact on their‘lock-in’*** the roughness of downstream risers is relatively large(0.1300)and the spacing between risers is small(S/D=4.0),the reduced velocity range of‘lock-in’region in the CF direction of upstream risers is obviously expanded,and the displacement in the‘lock-in’region is severer.

关键词： marine riser vortex-induced vibration tandem arrangement roughness interference effect

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A vertical track nonlinear energy sink

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Applied Mathematics and Mechanics(English Edition) 2024年第6期45卷 931-946页

作者： Meng li hu DING Shanghai Key Laboratory of Mechanics in Energy Engineering School of Mechanics and Engineering ScienceShanghai Frontier Science Center of MechanoinformaticsShanghai UniversityShanghai 200444China

Eliminating the effects of gravity and designing nonlinear energy sinks(NESs)that suppress vibration in the vertical direction is a challenging task with numerous damping *** this paper,the dynamic design of a vertical track nonlinear energy sink(VTNES)with zero linear stiffness in the vertical direction is proposed and realized for the first *** motion differential equations of the VTNES coupled with a linear oscillator(LO)are *** the strong nonlinearity considered of the VTNES,the steady-state response of the system is analyzed with the harmonic balance method(HBM),and the accuracy of the HBM is verified *** this basis,the VTNES prototype is manufactured,and its nonlinear stiffness is *** damping effect and dynamic characteristics of the VTNES are studied theoretically and *** results show that the VTNES has better damping effects when strong modulation responses(SMRs)***,even for small-amplitude vibration,the VTNES also has a good vibration suppression *** sum up,in order to suppress the vertical vibration,an NES is designed and developed,which can suppress the vertical vibration within certain ranges of the resonance frequency and the vibration intensity.

关键词： track nonlinear energy sink(TNES) vertical direction gravity nonlinear stiffness harmonic balance method(HBM) vibration control

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Super P and MoO_(2)/MoS_(2)co-doped gradient nanofiber membrane as multi-functional separator for lithium–sulfur batteries

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Rare Metals 2024年第9期43卷 4263-4273页

作者： Xin liang Dong-Qing Zhao Qian-Qian huang Sheng liang li-li Wang Lei hu ling-li liu Kun-Hong hu Chong-hai Deng Sheng Cheng Er-Tao Zhu hua-Xia Deng School of Energy Materials and Chemical Engineering LIB Technology Center of Anhui ProvinceHefei UniversityHefei 230601China Instrumental Analysis Centre Hefei University of TechnologyHefei 230009China Hefei Youngy Energy Materials Co. Ltd.Hefei 230000China Department of Modern Mechanics University of Science and Technology of ChinaHefei 230026China

lithium-sulfur battery is one of the most promising battery systems for industrialization due to its high theoretical specific capacity and high energy ***,the"shuttle effect"has restrained the advancement of lithium-sulfur *** this work,a gradient-structured nanofiber membrane with pure gelatin on one side and Super P-MoO_(2)/MoS_(2)-gelatin on the other side was created using a multi-step electrostatic spinning technique,which was applied for multi-functional separator for lithium-sulfur *** pure gelatin layer facing the anode side primarily homogenizes the lithium flux,whereas the Super P-MoO_(2)/MoS_(2)-gelatin layer facing the cathode side primarily adsorbs polysulfides by physical and chemical adsorption and enhancing polysulfide conversion *** findings demonstrate that even after 150 cycles at 0.2C,the lithium-sulfur battery can still sustain a discharge-specific capacity of 572.3 mAh·g^(-1).When used with li||li symmetric batteries,it has a cycle life of more than 1200 *** commercialization of lithium-sulfur batteries is given a fresh idea by this straightforward preparation technique.

关键词： MoO_(2)/MoS_(2) Nanofiber Membrane li-S battery

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Tunable luminescence of Bi^(3+)/Eu^(3+)-doped SiO_(2)-Al_(2)O_(3)-MCO_(3)(M=Ca,Sr,Ba) glasses for WLED

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Journal of Rare Earths 2024年第9期42卷 1652-1657,I0001页

作者： Falin Zhang Xiaoying liang Rongfei Wei hai Guo Fangfang hu Department of Physics Zhejiang Normal UniversityJinhua321004China

In this work,a group of Bi^(3+)/Eu^(3+)-doped SiO2-Al_(2)O_(3)-MCO_(3)(M=Ca,Sr,Ba) glasses were fabricated through melt-quenching *** structure and photoluminescence characters were studied via Xray diffraction(XRD),UV-Vis transmission spectra(TRS),excitation spectra,emission spectra and decay *** XRD results show that no nano-crystal phase forms in glass matrix with different doping concentrations of Bi^(3+)and Eu^(3+)*** regulating optical alkalinity value,the intensity of Bi^(3+)ions increases and the peak position shifts to red *** Bi^(3+)/Eu^(3+) co-doped glasses show a blue-white-yellow-red luminescence by changing concentration of Eu^(3+) *** transfer efficiency from Bi^(3+) to Eu^(3+) can reach as high as 10.54%.At 423 K, the emission intensity of 55SiO_(2)-10Al_(2)O_(3)-35BaO-0.25Bi_(2)O_(3)(GBE0.5) is 31.1% of that at 308 ***,the activation energy of the glass matrix is 0.251 *** results suggest that these Bi^(3+)/Eu^(3+) co-doped glass samples possess potential application in LED field.

关键词： Bi^(3+) Eu^(3+) Glass White light-emitting diode Energy transfer Rare earths

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Synergistic Interdecadal Evolution of Precipitation over Eastern China and the Pacific Decadal Oscillation during 1951-2015

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Advances in Atmospheric Sciences 2024年第1期41卷 53-72页

作者： Minmin WU Rong-hua ZHANG Junya hu hai ZHI Key Laboratory of Ocean Circulation and Waves Institute of OceanologyChinese Academy of SciencesQingdao 266071China School of Marine Sciences Nanjing University of Information Science and TechnologyNanjing 210044China Laosan Laboratory Qingdao 266237China School of Atmospheric Sciences Nanjing University of Information Science and TechnologyNanjing 210044China University of Chinese Academy of Sciences Beijing 100029China

By using the multi-taper method(MTM)of singular value decomposition(SVD),this study investigates the interdecadal evolution(10-to 30-year cycle)of precipitation over eastern China from 1951 to 2015 and its relationship with the North Pacific sea surface temperature(SST).Two significant interdecadal signals,one with an 11-year cycle and the other with a 23-year cycle,are identified in both the precipitation and SST *** show that the North Pacific SST forcing modulates the precipitation distribution over China through the effects of the Pacific Decadal Oscillation(PDO)-related anomalous Aleutian low on the western Pacific subtropical high(WPSH)and Mongolia high(MH).During the development stage of the PDO cold phase associated with the 11-year cycle,a weakened WPSH and MH increased the precipitation over the Yangtze River Basin,whereas an intensified WPSH and MH caused the enhanced rain band to move northward to North China during the decay *** the development stage of the PDO cold phase associated with the 23-year cycle,a weakened WPSH and MH increased the precipitation over North China,whereas an intensified WPSH and the weakened MH increased the precipitation over South China during the decay *** 11-year and 23-year variabilities contribute differently to the precipitation variations in the different regions of China,as seen in the 1998flooding *** 11-year cycle mainly accounts for precipitation increases over the Yangtze River Basin,while the 23-year cycle is responsible for the precipitation increase over Northeast *** results have important implications for understanding how the PDO modulates the precipitation distribution over China,helping to improve interdecadal climate prediction.

关键词： MTM-SVD PDO SST anomalies interdecadal variability precipitation over China

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