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Clinical Analysis and Mental Health Survey of Hemophilia Carriers:a Cross-sectional Study

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Current Medical Science 2024年第2期44卷 435-440页

作者： Wen WANG Li-juan JIANG Dong-yan CUI ai ZHANG Xiong WANG ai-guo LIU qun hu Department of Pediatrics Tongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430030China Department of Laboratory Medicine Tongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430030China

Objective:Hemophilia carriers(HCs),who are heterozygous for mutations in the clotting factor VIII/clotting factor IX gene(F8 or F9),may have a wide range of clotting factor levels,from very low,similar to afflicted males,to the upper limit of normal,and may experience mental health *** purpose of this study was to provide genetic information on mothers of hemophilia patients and to understand the clotting factor activity and phenotype of ***,we aimed to investigate the mental health status of HCs in ***:A total of 127 hemophilia mothers,including 93 hemophilia A(HA)mothers and 34 hemophilia B(HB)mothers,were enrolled in this *** distance PCR,multiplex PCR,and Sanger sequencing were used to analyze mutations in F8 or *** factor activity was detected by a one-stage clotting *** Symptom Checklist 90(SCL-90,China/Mandarin version)was given to HCs at the same time to assess their mental ***:A total of 90.6%of hemophilia mothers were diagnosed genetically as carriers,with inversion in intron 22 and missense mutations being the most common mutation types in HA and HB carriers,*** median clotting factor level in carriers was 0.74 IU/mL(ranging from 0.09 to 1.74 IU/mL)compared with 1.49 IU/mL(ranging from 0.93 to 1.89 IU/mL)in noncarriers,of which 14.3%of HCs had clotting factor levels of 0.40 IU/mL or below.A total of 53.8%(7/13)of HA carriers with low clotting factor levels(less than 0.50 IU/mL)had a history of bleeding,while none of the HB carriers displayed a bleeding *** total mean score and the global severity index of the SCL-90 for surveyed HCs were 171.00(±60.37)and 1.78(±0.59),respectively.A total of 67.7%of the respondents had psychological symptoms,with obsessive-compulsive disorder being the most prevalent and *** pooled estimates of all nine factors were significantly higher than those in the general population(P<0.05).Conclusions:The detection rate of gene mutations

关键词： hemophilia A hemophilia B mutation carrier mental health

Genetic Analysis of Two Novel GPI Variants Disrupting H Bonds and Localization Characteristics of 55 Gene Variants Associated with Glucose-6-phosphate Isomerase Deficiency

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Current Medical Science 2024年第2期44卷 426-434页

作者： Bi-xin XI Si-ying LIU Yu-ting XU De-dong ZHANG qun hu ai-guo LIU Department of Pediatrics Tongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430030China

Objective:Glucose-6-phosphate isomerase(GPI)deficiency is a rare hereditary nonspherocytic hemolytic anemia caused by GPI gene *** disorder exhibits wide heterogeneity in its clinical manifestations and molecular characteristics,often posing challenges for precise diagnoses using conventional *** this end,this study aimed to identify the novel variants responsible for GPI deficiency in a Chinese ***:The clinical manifestations of the patient were summarized and analyzed for GPI deficiency phenotype *** compound heterozygous variants of the GPI gene,c.174C>A(***58Lys)and c.1538G>T(***513Leu),were identified using whole-exome and Sanger *** AlphaFold program and Chimera software were used to analyze the effects of compound heterozygous variants on GPI ***:By characterizing 53 GPI missense/nonsense variants from previous literature and two novel missense variants identified in this study,we found that most variants were located in exons 3,4,12,and 18,with a few localized in exons 8,9,and *** study identified novel compound heterozygous variants associated with GPI *** pathogenic variants disrupt hydrogen bonds formed by highly conserved GPI amino ***:Early family-based sequencing analyses,especially for patients with congenital anemia,can help increase diagnostic accuracy for GPI deficiency,improve child healthcare,and enable genetic counseling.

关键词： glucose-6-phosphate isomerase deficiency whole-exome sequencing compound heterozygous variants genetic characterization hydrogen bond

Strong invariance principle for a counterbalanced random walk

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Applied Mathematics(A Journal of Chinese Universities) 2024年第2期39卷 370-380页

作者： TAN hui-qun hu Zhi-shui DONG Liang International Institute of Finance School of ManagementUniversity of Science and Technology of ChinaHefei 230026China Center for Basic Teaching and Experiment Nanjing University of Science and TechnologyJiangyin 214443China

We study a counterbalanced random walkS_(n)=X_(1)+…+X_(n),which is a discrete time non-Markovian process andX_(n) are given recursively as *** n≥2,X_(n) is a new independent sample from some fixed law̸=0 with a fixed probability p,andX_(n)=−X_(v(n))with probability 1−p,where v(n)is a uniform random variable on{1;…;n−1}.We apply martingale method to obtain a strong invariance principle forS_(n).

关键词： random walk martingale invariance principle

Classifying hepatitis B therapies with insights from covalently closed circular DNA dynamics

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Virologica Sinica 2024年第1期39卷 9-23页

作者： Jie-Li hu ai-Long huang Key Laboratory of Molecular Biology on Infectious Diseases Ministry of EducationChongqing Medical UniversityChongqing400016China

The achievement of a functional cure for chronic hepatitis B(CHB)remains limited to a minority of patients treated with currently approved *** primary objective in developing new anti-HBV drugs is to enhance the functional cure rates for CHB.A critical prerequisite for the functional cure of CHB is a substantial reduction,or even eradication of covalently closed circular DNA(cccDNA).Within this context,the changes in cccDNA levels during treatment become as a pivotal *** have previously analyzed the factors influencing cccDNA dynamics and introduced a preliminary classification of hepatitis B treatment strategies based on these *** this review,we employ a systems thinking perspective to elucidate the fundamental aspects of the HBV replication cycle and to rationalize the classification of treatment strategies according to their impact on the dynamic equilibrium of *** upon this foundation,we categorize current anti-HBV strategies into two distinct groups and advocate for their combined use to significantly reduce cccDNA levels within a well-defined timeframe.

关键词： Hepatitis B cccDNA Functional cure Dynamics Treatment Strategy

Color coded metadevices toward programmed terahertz switching

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Light(Science & Applications) 2024年第7期13卷 1383-1392页

作者： Weibao He Xiang’ai Cheng Siyang hu Ziheng Ren Zhongyi Yu Shun Wan Yuze hu Tian Jiang College of Advanced Interdisciplinary Studies National University of Defense TechnologyChangshaChina. Nanhu Laser Laboratory National University of Defense TechnologyChangshaChina. hunan Provincial Key Laboratory of High Energy Laser Technology National University of Defense TechnologyChangshaChina. Institute for Quantum Science and Technology College of ScienceNational University of Defense TechnologyChangshaChina

Terahertz modulators play a critical role in high-speed wireless communication,non-destructive imaging,and so on,which have attracted a large amount of research ***,all-optical terahertz modulation,an ultrafast dynamical control approach,remains to be limited in terms of encoding and *** we experimentally demonstrated an optical-programmed terahertz switching realized by combining optical metasurfaces with the terahertz metasurface,resulting in 2-bit dual-channel terahertz *** terahertz metasurface,made up of semiconductor islands and artificial microstructures,enables effective all-optical programming by providing multiple frequency channels with ultrafast modulation at the nanosecond ***,optical metasurfaces covered in terahertz metasurface alter the spatial light field distribution to obtain color *** to the time-domain coupled mode theory analysis,the energy dissipation modes in terahertz metasurface can be independently controlled by color excitation,which explains the principle of 2-bit encoding *** work establishes a platform for all-optical programmed terahertz metadevices and may further advance the application of composite metasurface in terahertz manipulation.

关键词： terahertz surface excitation

Combined Effect of Temperature and Cadmium on Molecular Responses of Hsp70 and P-gp Genes in Crassostrea gigas

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Journal of Ocean University of China 2024年第4期23卷 1115-1120页

作者： hu Fanguang SUN Ming LIU Guangbin JING Yuanyuan CHEN qun ZHANG Tianwen Marine Science Research Institute of Shandong Province Qingdao 266104China

To evaluate the combined effect of temperature and cadmium on the molecular responses of heat shock protein 70(hsp70)and P-glycoprotein(P-gp)in mantle,digestive gland and gills of Crassostrea gigas,oysters were exposed to combinations of five temperature levels(10,15,20,25,and 30℃)and 10μg L^(-1)cadmium for 21 *** were sampled for mRNA quantification by qPCR,and the results showed that the P-gp gene expression changed significantly after treatment at different temperatures and different treatment *** P-gp gene expression was the highest in the digestive *** with the control group,the P-gp gene expression in cadmium treatment groups at all the different temperatures were significantly higher than the control *** control oysters(kept at 10℃during the whole experiment without cadmium)expressed low levels of hsp70,but the groups treated with cadmium displayed somewhat higher *** present study demonstrated hsp70 and P-gp played an important role in the detoxification of Cd in ***,and confirmed temperature should be considered for the assessment of Cd-induced toxicity in oysters.

关键词： temperature cadmium P-gp hsp70 Crassostrea gigas

Leaching behavior and microstructure of phosphorus in converter slag

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Journal of Iron and Steel Research(International) 2024年第7期31卷 1646-1660页

作者： Chao-gang Zhou Jin-yue Li Qing-gong Chen Yin-ye Yang Wei Gong Li-qun ai Shu-huan Wang Bei-yue Ma College of Metallurgy and Energy North China University of Science and TechnologyTangshan 063210HebeiChina Key Laboratory for Ferrous Metallurgy and Resources Utilization of Ministry of Education Wuhan University of Science and TechnologyWuhan 430081HubeiChina College of Materials Science and Engineering Guizhou Minzu UniversityGuiyang 550025GuizhouChina School of Materials and Architectural Engineering Guizhou Normal UniversityGuiyang 550025GuizhouChina School of Metallurgy Northeastern UniversityShenyang 110819LiaoningChina

Converter slag is a by-product of the steelmaking process and contains a large amount of Ca,Fe,P and other *** the phosphorus in the converter slag can be effectively extracted,the resulting phosphorus can be used as a phosphate *** in converter slag is mainly enriched in 2CaO·SiO_(2)-3CaO·P_(2)O_(5)(C_(2)S-C_(3)P)solid solution and is easily dissolved in ***,acid leaching method was used to dissolve the solid solution to extract phosphorus in converter slag,so as to realize the recycling of phosphorus resources in converter *** leaching behavior of three actual converter slags from different steel mills in acid leaching solutions composed of citric acid,sodium hydroxide,hydrochloric acid and deionized water was studied by X-ray diffraction,scanning electron microscopy combined with energy dispersive spectrometry,Fourier transform infrared spectroscopy and Raman spectroscopy to reveal the change in object image structure as well as SiO_(4) and PO_(4) tetrahedron before and after acid *** results show that only a small amount of phosphorus in converter slag with too low basicity is enriched in C_(2)S-C_(3)P solid solution,resulting in poor leaching *** the converter slag has a high basicity,the removal effect of phosphorus is 70.64%-81.88%.In addition,when the basicity of converter slag is roughly the same,the dephosphorization effect of slag with high FeO content is relatively *** acid leaching will cause depolymerization behavior of SiO_(4) and PO_(4) tetrahedron,so that the mole fraction of Q0(Si)(asymmetric stretching vibration of Si-O bond in SiO_(4) tetrahedron with bridge oxygen number of 0)and NBO/Si(non-bridging oxygen in silicate tetrahedra)will ***-containing solids can be obtained from the solution after acid leaching through static precipitation,and the solids have the potential to make phosphate fertilizers.

关键词： Dephosphorization converter slag Acid leaching Phosphorus Solid solution Slag structure

Optimizing FeCoNiCrTi high-entropy alloy with hydrogen pumping effect to boost de/hydrogenation performance of magnesium hydride

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Rare Metals 2024年第7期43卷 3273-3285页

作者： Meng-Chen Song Fu-Ying Wu Yi-qun Jiang Xiu-Zhen Wang hu Zhao Li-Xin Chen Liu-Ting Zhang School of Energy and Power Instrumental Analysis CenterJiangsu University of Science and TechnologyZhenjiang 212003China Max Planck Institute for Iron Research 40237DuisseldorfGermany School of Mechanical and Aerospace Engineering Nanyang Technological UniversitySingapore 639798Singapore State Key Laboratory of Silicon Materials Department of Materials Science and EngineeringZhejiang UniversityHangzhou 310027China

The exploration of efficient,long-lived and cost-effective transition metal catalysts is highly desirable for the practical hydrogen storage of magnesium hydride(MgH_(2)) in sustainable energy ***,FeCoNiCrTi high-entropy alloy(HEA) nanosheets were prepared via a facile wet chemical ball milling strategy and they were introduced into MgH_(2) to boost the hydrogen storage *** refined HEA exhibited superior catalytic activity on MgH_(2).In contrast to additive-free MgH_(2),the initial desorption temperature of the constructed MgH_(2)-HEA composite was reduced from 330.0 to 198.5℃ and a remarkable 51% reduction in the dehydrogenation activation energy was ***,the MgH_(2)-HEA composite only required one-twentieth time of that consumed by pure MgH_(2) to absorb 5.0 wt% of H_(2) at 225℃.The synergy between the "hydrogen pumping" effect of Mg_2Ni/Mg_2NiH_4 and Mg_2Co/Mg_2CoH_5 couples,as well as the good dispersion of Fe,Cr and Ti on the surface of MgH_(2) contributed to the enhanced de/hydrogenation performance of the MgH_(2)-HEA *** study furnishes important steering for the design and fabrication of multiple transition metal catalysts and may push the commercial application of magnesium-based hydrides one step forward.

关键词： Hydrogen storage Magnesium hydride High-entropy alloys Catalysis

Quantification of Central and Eastern China's atmospheric CH_(4) enhancement changes and its contributions based on machine learning approach

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Journal of Environmental Sciences 2024年第4期138卷 236-248页

作者： Xinyue ai Cheng hu Yanrong Yang Leying Zhang huili Liu Junqing Zhang Xin Chen Guoqiang Bai Wei Xiao College of Biology and the Environment Joint Center for sustainable Forestry in Southern ChinaNanjing Forestry UniversityNanjing 210037China Collaborative Innovation Center on Forecast and Evaluation of Meteorological Disasters(CIC-FEMD) Nanjing University of Information Science&TechnologyNanjing 210044China Guang’an Vocational&Technical College Guangan 638550China huaNan Meteorological Administration Huanan 154400China

Methane is the second largest anthropogenic greenhouse gas,and changes in atmospheric methane concentrations can reflect the dynamic balance between its emissions and ***,the monitoring of CH_(4) concentration changes and the assessment of underlying driving factors can provide scientific basis for the government’s policy making and *** is the world’s largest emitter of anthropogenic ***,due to the lack of ground-based observation sites,little work has been done on the spatial-temporal variations for the past decades and influencing factors in China,especially for areas with high anthropogenic emissions as Central and Eastern *** to quantify atmospheric CH_(4) enhancements trends and its driving factors in Central and Eastern China,we combined the most up-to-date TROPOMI satellite-based column CH_(4)(xCH_(4))concentration from 2018 to 2022,anthropogenic and natural emissions,and a random forest-based machine learning approach,to simulate atmospheric xCH_(4) enhancements from 2001 to *** results showed that(1)the random forest model was able to accurately establish the relationship between emission sources and xCH_(4) enhancement with a correlation coefficient(R^(2))of 0.89 and a root mean-square error(RMSE)of 11.98 ppb;(2)The xCH_(4) enhancement only increased from 48.21±2.02 ppb to 49.79±1.87 ppb from the year of 2001 to 2018,with a relative change of 3.27%±0.13%;(3)The simulation results showed that the energy activities and waste treatment were the main contributors to the increase in xCH_(4) enhancement,contributing 68.00% and 31.21%,respectively,and the decrease of animal ruminants contributed-6.70% of its enhancement trend.

关键词： TROPOMI Methane column concentrations Anthropogenic sources Random Forest model