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Novel compound heterozygous mutations in the hemojuvelin gene in a juvenile hemochromatosis patient:A case report

World Journal of Clinical Cases 2024年第19期12卷 3961-3970页

作者： ling-ding xie Xiao-Mu Kong Jing-Xia Shen Tai-ling Wang Jing Ma Yun-Fen Zhang Xiao-Ping Chen Department of Endocrinology China-Japan Friendship HospitalBeijing 100029China Department of Tumor Radiotherapy and Chemotherapy Qian’an People’s HospitalQian’an 064400Hebei ProvinceChina Department of Pathology China-Japan Friendship HospitalBeijing 100029China Department of Endocrinology Aksu First People's HospitalAksu Region 843000Xinjiang Uygur Autonomous RegionChina Department of Metabolic Diseases Qian’an Traditional Chinese Medical HospitalQian’an 064400Hebei ProvinceChina

BACKGROUND Juvenile hemochromatosis(JH)is an early-onset,rare autosomal recessive disorder of iron overload observed worldwide that leads to damage in multiple *** mutations in the hemojuvelin(HJV)gene are the major cause of *** SUMMARY A 34-year-old male Chinese patient presented with liver fibrosis,diabetes,hypogonadotropic hypogonadism,hypophysis hypothyroidism,and skin *** test revealed a markedly elevated serum ferritin level of 4329μg/L and a transferrin saturation rate of 95.4%.Targeted exome sequencing and Sanger sequencing revealed that the proband had a novel mutation c.863G>A(p.R288Q)in the HJV gene which was transmitted from his father,and two known mutations,c.18G>C(p.Q6H)and c.962_963delGCinsAA(p.C321*)in cis,which were inherited from his *** p.R288W mutation was previously reported to be pathogenic for hemochromatosis,which strongly supported the pathogenicity of p.R288Q reported for the first time in this *** 72 wk of intensive phlebotomy therapy,the patient achieved a reduction in serum ferritin to 160.5μg/*** patient's clinical symptoms demonstrated a notable *** This study highlights the importance of screening for hemochromatosis in patients with diabetes and hypogonadotropic *** also suggests that long-term active phlebotomy could efficiently improve the prognosis in severe JH.

关键词： Juvenile hemochromatosis Liver cirrhosis Diabetes Iron overload Phlebotomy Case report

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Development of porphyrin-based fluorescent sensors and sensor arrays for saccharide recognition

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Chinese Chemical Letters 2024年第2期35卷 16-23页

作者： Yubin ding Jiaxin Wang Ruinan Wang Yongshu xie Department of Chemistry College of SciencesNanjing Agricultural UniversityNanjing 210095China Shanghai Key Laboratory of Functional Materials Chemistry Key Laboratory for Advanced Materials and Institute of Fine ChemicalsSchool of Chemistry and Molecular EngineeringEast China University of Science & TechnologyShanghai 200237China

Saccharide sensing is a very meaningful research topic as saccharides are involved in many biological ***,it is challenging to design molecular sensors for saccharides because this family of compounds is hydromimetic in aqueous solutions and shares a similar chemical *** this review,research progress in the development of porphyrin-based saccharide sensors is described with representative *** focus on using porphyrin as the signal reporter because porphyrins exhibit unique advantages in high chemical stability,long emission wavelength,and multiple structural modification *** literature results have been classified into mainly two sections according to the general working principles of the porphyrin sensor *** the first section,recognition unit,design strategy and sensing performance of traditional porphyrin-based selective saccharide sensors are *** in the second section,development of porphyrin-based sensor arrays for pattern recognition of saccharides has been *** through the design strategy and sensing performance of reported achievements,it is reasonable to anticipate a bright future for designing practical porphyrin-based saccharide sensors.

关键词： Porphyrin Saccharide Fluorescent sensing Selective sensing Pattern recognition

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Dynamic Coupling Analysis of Semisubmersible Platform Float-over Method for Docking Case

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Journal of Ocean University of China 2024年第2期23卷 345-357页

作者： ding Hongyan QIN Licheng ZHANG Puyang SONG Zhengrong xie Weiwei State Key Laboratory of Hydraulic Engineering Simulation and Safety Tianjin UniversityTianjin 300072China Offshore Oil Engineering Co. Ltd.Tianjin 300461China

In this paper,the multi-body coupled dynamic characteristics of a semisubmersible platform and an HYSY 229 barge were ***,coupled hydrodynamic analysis of the HYSY 229 barge and the semisubmersible platform was *** hydrodynamic parameters were obtained using the retardation function method of three-dimensional frequency-domain potential flow *** results of the hydrodynamic analysis were highly consistent with the test findings,verifying the accuracy of the multifloating hydrodynamic coupling analysis,and key hydrodynamic parameters were solved for different water depths and the coupling *** to the obtained results,the hydrodynamic influence was the largest in shallow waters when the coupling effect was ***,the coupled motion equation combined with viscous damping,fender system,and mooring system was established,and the hydrodynamics,floating body motion,and dynamic response of the fender system were *** analysis revealed good agreement among the surge,sway,and yaw motions of the two floating ***,when the wave period reached 10 s,the motion of the two floating bodies showed severe shock,and a relative motion was also ***,excessive constraints should be added between the two floating bodies during construction to ensure construction *** numerical analysis and model test results of the semisubmersible platform and HYSY 229 barge at a water depth of 42 m and sea conditions of 0°,45°,and 90° were in good agreement,and the error was less than 5%.The maximum movement of the HYSY 229 barge reached 2.61 m in the sway direction,whereas that of the semisubmersible platform was 2.11 *** construction,excessive constraints should be added between the two floating bodies to limit their relative movement and ensure construction safety.

关键词： float-over method semisubmersible platform coupling hydrodynamic fender system time-domain analysis

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Development of an automatic measurement system using atmospheric pressure photoionization ultrahigh-resolution mass spectrometry and application for on-line analysis of particulate matter

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Journal of Environmental Sciences 2024年第4期138卷 516-530页

作者： Yayuan Dong Ranran Liu ling xie Xiaole Pan Yele Sun Lin Wu ZifaWang State Key Laboratory of Atmospheric Boundary Layer Physics and Atmospheric Chemistry Institute of Atmospheric PhysicsChinese Academy of SciencesBeijing 100029China College of Earth and Planetary Sciences University of Chinese Academy of SciencesBeijing 100049China Center for Excellence in Regional Atmospheric Environment Chinese Academy of SciencesInstitute of Urban EnvironmentXiamen 361021China

On-line chemical characterization of atmospheric particulate matter(PM)with soft ionization technique and ultrahigh-resolution Mass Spectrometry(UHRMS)provides molecular information of organic constituents in real *** we describe the development and application of an automatic measurement system that incorporates PM_(2.5)sampling,thermal desorption,atmospheric pressure photoionization,and UHRMS *** formulas of detected organic compounds were deducted from the accurate(±10 ppm)molecular weights obtained at a mass resolution of 100,000,allowing the identification of small organic compounds in PM_(2.5).Detection efficiencies of 28 standard compounds were determined and we found a high sensitivity and selectivity towards organic amines with limits of detection below 10 *** a proof of principle,PM_(2.5)samples collected off-line in winter in the urban area of Beijing were analyzed using the Ionization Module and HRMS of the *** automatic system was then applied to conduct on-line measurements during the summer time at a time resolution of 2 *** detected organic compounds comprised mainly CHON and CHN compounds below 350 m/*** seasonal variations in elemental composition were observed with shorter carbon backbones and higher O/C ratios in summer than that in *** result is consistent with stronger photochemical reactions and thus a higher oxidation state of organics in *** variation in signal intensity of each formula provides crucial information to reveal its source and formation *** summary,the automatic measurement system serves as an important tool for the on-line characterization and identification of organic species in PM_(2.5).

关键词： PM_(2.5) Chemical composition On-line measurement technique High resolution mass spectrometry

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A computational model to identify fertility-related proteins using sequence information

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Frontiers of Computer Science 2024年第1期18卷 229-237页

作者： Yan LIN Jiashu WANG Xiaowei LIU Xueqin xie De WU Junjie ZHANG Hui ding Key Laboratory for Animal Disease-Resistance Nutrition of the Ministry of Agriculture Animal Nutrition InstituteSichuan Agricultural UniversityChengdu 611130China School of Life Science and Technology and Center for Informational Biology University of Electronic Science and Technology of ChinaChengdu 610054China

Fertility is the most crucial step in the development process,which is controlled by many fertility-related proteins,including spermatogenesis-,oogenesis-and embryogenesis-related *** identification of fertility-related proteins can provide important clues for studying the role of these proteins in ***,in this study,we constructed a two-layer classifier to identify fertility-related *** this classifier,we first used the composition of amino acids(AA)and their physical and chemical properties to code these three fertility-related ***,the feature set is optimized by analysis of variance(ANOVA)and incremental feature selection(IFS)to obtain the optimal feature *** five-fold cross-validation(CV)and independent data tests,the performance of models constructed by different machine learning(ML)methods is evaluated and ***,based on support vector machine(SVM),we obtained a two-layer model to classify three fertility-related *** the independent test data set,the accuracy(ACC)and the area under the receiver operating characteristic curve(AUC)of the first layer classifier are 81.95%and 0.89,respectively,and them of the second layer classifier are 84.74%and 0.90,*** results show that the proposed model has stable performance and satisfactory prediction accuracy,and can become a powerful model to identify more fertility related proteins.

关键词： sfertility-related proteins machine1 learning sequence information feature selection

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Exposure to ephedrine attenuates Th1/Th2 imbalance underlying OVA-induced asthma through airway epithelial cell-derived exo-somal lnc-TRPM2-AS

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Chinese Journal of Natural Medicines 2024年第6期22卷 530-540页

作者： HU Yan WANG Mengqing xie Jing JIAO Luojia ding Yi LUO Yinhe Department of Pediatrics The First Hospital of Hunan University of Chinese MedicineChangsha 410007China Hunan University of Chinese Medicine Changsha 410208China Department of Rehabilitation Medical CollegeChangsha Civil Affairs Vocational and Technical CollegeChangsha 410004Hunan ProvinceChina Teaching and Research Office of Chinese and Western Combination Hunan University of Chinese MedicineChangsha 410208China

Although various anti-inflammatory medications,such as ephedrine,are employed to manage cough-variant asthma,their underlying mechanisms are yet to be fully *** studies suggest that exosomes derived from airway epithelial cells(AECs)contain components like messenger RNAs(mRNAs),micro-RNAs(miRNAs),and long noncoding RNA(lncRNA),which play roles in the occurrence and progression of airway *** study investigates the influence of AEC-derived exosomes on the efficacy of ephedrine in treating cough-variant *** established a mouse model of asthma and measured airway resist-ance and serum inflammatory cell ***-time polymerase chain reaction(RT-qPCR),Western blotting,and enzyme-linked im-munosorbent assay(ELISA)analyses were used to assess gene and protein expression *** were isolated and *** immunoprecipitation(RIP)and RNA pull-down assays were conducted to examine the interaction between hnRNPA2B1 and *** the ovalbumin(OVA)-challenged mouse model,ephedrine treatment reduced inflammatory responses,air-way resistance,and Th1/Th2 cell *** from OVA-treated AECs showed elevated levels of lnc-TRPM2-AS1,which were diminished following ephedrine *** exosomal lnc-TRPM2-AS1 mediated the Th1/Th2 imbalance in CD4^(+)T cells,with its packaging into exosomes being facilitated by *** study unveils a novel mechanism by which ephedrine ameli-orates OVA-induced CD4^(+)T cell imbalance by suppressing AEC-derived exosomal *** findings could provide a theoretical framework for using ephedrine in asthma treatment.

关键词： Asthma Ephedrine Exosomal lnc-TRPM2-AS1 Th1/Th2 imbalance HnRNPA2B1 Airway epithelial cells

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Combining machine and deep transfer learning for mediastinal lymph node evaluation in patients with lung cancer

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虚拟现实与智能硬件（中英文） 2024年第3期6卷 226-238页

作者： Hui xie Jianfang ZHANG Lijuan ding Tao TAN Qing LI Department of Radiation Oncology Affiliated Hospital(Clinical College)of Xiangnan UniversityChenzhou 423000China Faulty of Applied Sciences Macao Polytechnic UniversityMacao 999078China Department of Physical examination Beihu Centers for Disease Control and PreventionChenzhou 423000China Department of Radiation Oncology the Third People's Hospital of Chenzhou CityChenzhou 423000China School of Medical Imaging Laboratory Science and RehabilitationXiangnan UniversityChenzhou 423000China

Background The prognosis and survival of patients with lung cancer are likely to deteriorate with *** deep-learning in the detection of lymph node metastasis can facilitate the noninvasive calculation of the likelihood of such metastasis,thereby providing clinicians with crucial information to enhance diagnostic precision and ultimately improve patient survival and *** In total,623 eligible patients were recruited from two medical *** deep learning models,namely Alex,GoogLeNet,Resnet18,Resnet101,Vgg16,Vgg19,and MobileNetv3(small),were utilized to extract deep image histological *** dimensionality of the extracted features was then reduced using the Spearman correlation coefficient(r≥0.9)and Least Absolute Shrinkage and Selection *** machine learning methods,namely Support Vector Machine,K-nearest neighbor,Random Forest,Extra Trees,XGBoost,LightGBM,Naive Bayes,AdaBoost,Gradient Boosting Decision Tree,Linear Regression,and Multilayer Perceptron,were employed to construct classification prediction models for the filtered final *** diagnostic performances of the models were assessed using various metrics,including accuracy,area under the receiver operating characteristic curve,sensitivity,specificity,positive predictive value,and negative predictive *** and decision-curve analyses were also *** The present study demonstrated that using deep radiomic features extracted from Vgg16,in conjunction with a prediction model constructed via a linear regression algorithm,effectively distinguished the status of mediastinal lymph nodes in patients with lung *** performance of the model was evaluated based on various metrics,including accuracy,area under the receiver operating characteristic curve,sensitivity,specificity,positive predictive value,and negative predictive value,which yielded values of 0.808,0.834,0.851,0.745,0.829,and 0.776,*** validation set of the

关键词： Machine learning Deep transfer learning Evaluation Mediastinal lymph node lung cancer patie

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Distributed Platooning Control of Automated Vehicles Subject to Replay Attacks Based on Proportional Integral Observers

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IEEE/CAA Journal of Automatica Sinica 2024年第9期11卷 1954-1966页

作者： Meiling xie Derui ding Xiaohua Ge Qing-Long Han Hongli Dong Yan Song Department of Control Science and Engineering University of Shanghai for Science and TechnologyShanghai 200093China School of Science Computing and Engineering TechnologiesSwinburne University of TechnologyMelbourne VIC 3122Australia Artificial Intelligence Energy Research Institute Northeast Petroleum UniversityDaqing 163318the Heilongjiang Provincial Key Laboratory of Networking and Intelligent ControlNortheast Petroleum UniversityDaqing 163318 Sanya Offshore Oil&Gas Research Institute Northeast Petroleum UniversitySanya 572024China

Secure platooning control plays an important role in enhancing the cooperative driving safety of automated vehicles subject to various security *** paper focuses on the distributed secure control issue of automated vehicles affected by replay attacks.A proportional-integral-observer(PIO)with predetermined forgetting parameters is first constructed to acquire the dynamical information of ***,a time-varying parameter and two positive scalars are employed to describe the temporal behavior of replay *** light of such a scheme and the common properties of Laplace matrices,the closed-loop system with PIO-based controllers is transformed into a switched and time-delayed ***,some sufficient conditions are derived to achieve the desired platooning performance by the view of the Lyapunov stability *** controller gains are analytically determined by resorting to the solution of certain matrix inequalities only dependent on maximum and minimum eigenvalues of communication ***,a simulation example is provided to illustrate the effectiveness of the proposed control strategy.

关键词： Automated vehicles platooning control proportional-integral-observers(PIOs) replay attacks time-delays

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Decarboxylative Amination with Nitroarenes via Synergistic Catalysis

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Chinese Journal of Chemistry 2024年第4期42卷 351-355页

作者： Meiling ding Sitian Zhou Shunruo Yao Chengjian Zhu Weipeng Li Jin xie State Key Laboratory of Coordination Chemistry Jiangsu Key Laboratory of Advanced Organic MaterialsChemistry and Biomedicine Innovation Center(ChemBIC)School of Chemistry and Chemical EngineeringNanjing UniversityNanjingJiangsu210023 China Green Catalysis Center and College of ChemistryZhengzhou UniversityZhengzhouHenan450001 China

In this paper,we have developed a decarboxylative amination of carboxylic acids with nitroarenes for the synthesis of secondary *** protocol is performed at mild conditions without the use of noble metals as catalysts.A wide range of structurally diverse secondary amines could be obtained in good yields(up to 94%)with good functional group *** transformation shows good to excellent selectivity,avoiding the generation of over alkylated byproducts.

关键词： Nitroarenes Amines Synergistic catalysis Carboxylic acids Radical alkylation Amination Photocatalysis Steric hindrance

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Recent progress in single crystal perovskite X-ray detectors

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Science China(Information Sciences) 2024年第3期67卷 5-19页

作者： Xiao LIU Jun REN Yu-Ang CHEN Xiangshun GENG Dan xie Tian-ling REN School of Integrated Circuits Tsinghua University Beijing National Research Center for Information Science and Technology (BNRist)

Perovskites have attracted extensive attention as radiation detection material due to their long carrier diffusion length and lifetime, high absorption coefficient, and flexible manufacturing process. Compared with polycrystalline structures, single crystal perovskites improve the performance of optoelectronic devices due to their low defect state density, better photoelectric characteristics, and chemical ***, we review the recent progress of single crystal perovskite X-ray detectors. First, we briefly introduced the basic concepts, detection mechanisms, figure of merits of perovskite X-ray detectors, and the preparation methods of single crystal perovskites. Then, we summarized the significant advancements in single crystal perovskite X-ray detectors in recent times. Finally, we discussed the critical challenges and some practicable solutions for developing high-performance X-ray detectors.

关键词： single crystal perovskites carrier transport radiation detection X-ray detectors X-ray imaging

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