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Optimization of causative factors using logistic regression and artificial neural network models for landslide susceptibility assessment in Ujung Loe Watershed, South Sulawesi Indonesia 被引量:12
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作者 Andang Suryana SOMA Tetsuya KUBOTA Hideaki MIZUNO 《Journal of Mountain Science》 SCIE CSCD 2019年第2期383-401,共19页
Landslide susceptibility maps(LSMs) play a vital role in assisting land use planning and risk mitigation. This study aims to optimize causative factors using logistic regression(LR) and an artificial neural network(AN... Landslide susceptibility maps(LSMs) play a vital role in assisting land use planning and risk mitigation. This study aims to optimize causative factors using logistic regression(LR) and an artificial neural network(ANN) to produce a LSM. The LSM is produced with 11 causative factors and then optimized using forward-stepwise LR(FSLR), ANN, and their combination(FSLR-ANN) until eight causative factors were found for each method. The ANN method produced superior validation results compared with LR. The ROC values for the training data set ranges between 0.8 and 0.9. On the other hand, validation with the percentage of landslide fall into LSM class high and very high, ANN method was higher(92.59%) than LR(82.12%). FSLR-ANN with nine causative factors gave the best validation results with respect to area under curve(AUC) values, and validation with the percentage of landslide fall into LSM class high and very high. In conclusion, ANN was found to be better than LR when producing LSMs. The best Optimization was combination of FSLR-ANN with nine causative factors and AUC success rate 0.847, predictive rate 0.844 and validation with landslide fall into high and very high class with 91.30%. It is an encouraging preliminary model towards a systematic introduction of FSLR-ANN model for optimization causative factors in landslide susceptibility assessment in the mountainous area of Ujung Loe Watershed. 展开更多
关键词 Optimized causative factor Landslide LOGISTIC Regression Artificial neural network Indonesia
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Causative Microorganisms Isolated from Patients with Intra-Abdominal Infections and Their Drug Resistance Profiles:An 11-Year(2011–2021)Single-Center Retrospective Study 被引量:2
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作者 DING Rui MA Rui Rui +10 位作者 LIU Ya Li ZHAO Ying GUO Li Na DOU Hong Tao SUN Hong Li LIU Wen Jing ZHANG Li WANG Yao LI Ding Ding YI Qiao Lian XU Ying Chun 《Biomedical and Environmental Sciences》 SCIE CAS CSCD 2023年第8期732-742,共11页
Objective To investigate the distribution and antimicrobial susceptibility of causative microorganisms recovered from patients with intra-abdominal infections(IAIs).Methods A total of 2,926 bacterial and fungal strain... Objective To investigate the distribution and antimicrobial susceptibility of causative microorganisms recovered from patients with intra-abdominal infections(IAIs).Methods A total of 2,926 bacterial and fungal strains were identified in samples collected from 1,679 patients with IAIs at the Peking Union Medical College Hospital between 2011 and 2021.Pathogenic bacteria and fungi were identified using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry.Antimicrobial susceptibility testing(AST)was performed using the VITEK 2 compact system and the Kirby–Bauer method.AST results were interpreted based on the M100-Ed31 clinical breakpoints of the Clinical and Laboratory Standards Institute.Results Of the 2,926 strains identified,49.2%,40.8%,and 9.5%were gram-negative bacteria,gram-positive bacteria,and fungi,respectively.Escherichia coli was the most prevalent pathogen in intensive care unit(ICU)and non-ICU patients;however,a significant decrease was observed in the isolation of E.coli between 2011 and 2021.Specifically,significant decreases were observed between 2011 and 2021 in the levels of extended-spectrumβ-lactamase(ESBL)-producing E.coli(from 76.9%to 14.3%)and Klebsiella pneumoniae(from 45.8%to 4.8%).Polymicrobial infections,particularly those involving co-infection with gram-positive and gram-negative bacteria,were commonly observed in IAI patients.Moreover,Candida albicans was more commonly isolated from hospital-associated IAI samples,while Staphylococcus epidermidis had a higher ratio in community-associated IAIs.Additionally,AST results revealed that most antimicrobial agents performed better in non-ESBL-producers than in ESBL-producers,while the overall resistance rates(56.9%–76.8%)of Acinetobacter baumanmii were higher against all antimicrobial agents than those of other common gram-negative bacteria.Indeed,Enterococcus faecium,Enterococcus faecalis,S.epidermidis,and S.aureus were consistently found to be susceptible to vancomycin,teicoplanin,and linezolid.Similarly,C.albicans exhibited high susceptibility to all the tested antifungal drugs.Conclusion The distribution and antimicrobial susceptibility of the causative microorganisms from patients with IAls were altered between 2011 and 2021.This finding is valuable for the implementation of evidence-based antimicrobial therapy and provides guidance for the control of hospital infections. 展开更多
关键词 Intra-abdominal infection causative microorganisms Antimicrobial susceptibility testing Gram-negative bacteria Gram-positive bacteria
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Textual research of Wudu earthquake in 186 B.C. in Gansu Province, China and discussion on its causative structure
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作者 袁道阳 雷中生 +4 位作者 何文贵 熊振 葛伟鹏 刘兴旺 刘百篪 《Acta Seismologica Sinica(English Edition)》 CSCD 2007年第6期696-707,共12页
On the basis of the textual research on the historical earthquake data and the field investigation of Wudu earthquake occurred in 186 B.C., we suggest that the earthquake parameters drawn from the present earthquake c... On the basis of the textual research on the historical earthquake data and the field investigation of Wudu earthquake occurred in 186 B.C., we suggest that the earthquake parameters drawn from the present earthquake catalogs are not definite and amendments should be made. The heavily-damaged area of this earthquake should be located between Jugan township of Wudu County and Pingding township of Zhouqu County. Its epicenter should be in the vicinity of Lianghekou in Wudu County with a magnitude of about 7-7 1/4 and an intensity of about IX-X. The major axis direction of the heavily-damaged area should be in the WNW direction that is approximately consistent with the strike of the middle-east segment of Diebu-Bailongjiang active fault zone, and the origin time should match up to that of the latest paleoearthquake event [before (83±46) B.C.] obtained by the trench investigation. Certain seismic rupture evidences are still preserved on this fault segment. Therefore, we propose on the basis of comprehensive analysis that the causative structure of the M 7-7 1/4 Wudu earthquake in 186 B.C. should be in the middle-east segment of Diebu-Bailongjiang active fault zone. 展开更多
关键词 Wudu earthquake in 186 B.C. textual research of historical earthquake causative structure Diebn-Bailongjiang fault zone
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Study of Applying Cognitive Linguistic Theory into Japanese Grammar Teaching——Taking Causative Sentence as an Example
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作者 Zhang Yu 《International Journal of Technology Management》 2016年第5期7-9,共3页
The traditional Japanese grammar teaching often only pays attention to the interpretation of syntax and the integrity of grammar structure. This violates the cultivation of communicative competence, and is not in conf... The traditional Japanese grammar teaching often only pays attention to the interpretation of syntax and the integrity of grammar structure. This violates the cultivation of communicative competence, and is not in conformity with the society’s requirements of applied foreign language talents. Cognitive linguistics theory, which links language form with semantic concept, reveals the internal relation of man’s thinking and language. If we can subtly apply cognitive linguistic theory into Japanese grammar teaching to explore the cognitive process in the speakers’ brain while expressing, we can get a good understanding of diffi cult points and “special case”. This paper explores the introductory methods and efficacy of the cognitive linguistics theory applied in Japanese grammar teaching method, by lecturing causative sentences an example. 展开更多
关键词 JAPANESE grammar teaching COMMUNICATIVE competence COGNITIVE process causative SENTENCE effi cacy
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When Is a Causative Situation not Mapped to a Causative Construction Proper? The Case of Hupa
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作者 Ramon Escamilla 《宏观语言学》 2021年第1期101-112,共12页
This work interrogates why certain real-world events that meet criteria for being considered causative events cannot be expressed using Hupa’s morphological or syntactic causative constructions,but must be encoded us... This work interrogates why certain real-world events that meet criteria for being considered causative events cannot be expressed using Hupa’s morphological or syntactic causative constructions,but must be encoded using one of two periphrastic constructions in which the Causer or cause is not marked as an argument.Based on fieldwork with a native speaker,I probe into these two periphrastic constructions in depth,accounting for their distributions through an appeal to Næss’s(2007)account of semantic transitivity. 展开更多
关键词 Hupa Dene causative SEMANTICS TYPOLOGY
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The Morphophonology of Moroccan Arabic Derived Causatives
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作者 Ayoub Noamane 《宏观语言学》 2020年第2期1-27,共27页
This paper aims at investigating the morphophonological make-up of derived causatives in Moroccan Arabic within the framework of Optimality Theory (Prince &Smolensky, 2004). Causative verbs in MA are characterized... This paper aims at investigating the morphophonological make-up of derived causatives in Moroccan Arabic within the framework of Optimality Theory (Prince &Smolensky, 2004). Causative verbs in MA are characterized by the systematic gemination of their medial consonants. However, it is not easy to determine the morphological nature of the causative morpheme involved in this derivation. Also, it is not clearly known why the causative morpheme gets realized exactly on the second segment of the base form.Therefore, we seek to achieve the following goals. First, we intend to determine the nature of the causative morpheme. Second, we aim to explain why the causative morpheme is realized on the second segment of the base form. In this respect, we show that the causative morpheme is represented by a featureless consonantal mora that targets the second segment of the base root, turning it into a geminate. We also show that the causative morpheme gets infixed thanks to the privileged status of root-initial segments. 展开更多
关键词 causative verbs morphophonology GERMINATION word formation infixation Optimality Theory Moroccan Arabic
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Causative Constructions in Afaan Oromoo:Formal and semantic perspectives
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作者 Eba Teresa Garoma Girma Tesfaye Tekle 《宏观语言学》 2019年第1期70-96,共27页
The main objective of this study is to give descriptions of formal and functional aspects of causative constructions in Afaan Oromoo.To achieve the objective,written texts,native speaker informants and introspections ... The main objective of this study is to give descriptions of formal and functional aspects of causative constructions in Afaan Oromoo.To achieve the objective,written texts,native speaker informants and introspections are predominantly used as sources of data.The findings reveal that the three structural aspects of causatives-morphological,lexical and syntactic-are used in the language.Morphological causatives are highly productive,and affixes with-s and-i in several combinations as well as-eess are employed for such purposes.Causative Morphemes are detected to derive causatives of basic verb stems of different semantic categories and to involve causations in word-class changing.There are also simple and complex causations in which there are several causatives suffixes,causers and micro-events indicated morphologically and syntactically.Semantically,direct,indirect,and assistive/cooperative causatives are identified.Pseudo-causatives are uncovered as peculiar futures of the language too.There are,even,structures with explicit causative affixes which are called subjectless causatives,but they do not show any causal relations between the participants in the structure. 展开更多
关键词 Afaan Oromoo MORPHOLOGICAL causativeS DIRECT vs.indirect causativeS
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Deriving Morphological Causatives in Moroccan Arabic
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作者 Ayoub Loutfi 《宏观语言学》 2020年第1期1-17,共17页
This paper explores the nature of the post-syntactic operations responsible for the representations of the linear order of terminal nodes.In particular,it argues in favor of a unified model of the morphosyntax and mor... This paper explores the nature of the post-syntactic operations responsible for the representations of the linear order of terminal nodes.In particular,it argues in favor of a unified model of the morphosyntax and morphophonology,wherein the theory of Distributed Morphology and Optimality Theory operate in a single module.The testing ground is an investigation of the formation of morphological causatives in Moroccan Arabic.Herein,the process of realizing causatives is morphological gemination,whereby the second consonant of the root is doubled.Investigating the question of what triggers the infixal process,I argue against the linearization algorithm suggested in Embick&Noyer(2001),Embick&Marantz(2008),and Embick(2006,2010).Instead,the claim I defend here is that the onus of the linearization process falls on the prosody in Arabic,the central assumption being that the morphosyntactic structure,the output of the syntactic derivation,is the input to OT morphophonological constraints.These constraints are responsible for the linearization of the terminal nodes of the syntactic derivation.I show that adopting one theory over others misses important generalizations about the language. 展开更多
关键词 causativeS ARABIC Moroccan Arabic non-concatenative morphology LINEARIZATION
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An Investigation of Lexical Causatives from a Cross- linguistic Perspective
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作者 Changyin Zhou Yue Ma 《International Journal of Technology Management》 2013年第7期112-118,共7页
This paper will make an investigation on the properties of lexical causatives from the cross-linguistic perspective. Specifically, we shall contrast the lexical causatives in English, Japanese and Chinese. We adopt Py... This paper will make an investigation on the properties of lexical causatives from the cross-linguistic perspective. Specifically, we shall contrast the lexical causatives in English, Japanese and Chinese. We adopt Pylkk^inen's (2008) minimalist model as the framework. According to this model, the similarity of cross-linguistic causatives is attributed to the presence of the functional head vCAUSE. Variations of causatives in different languages can be attributed to two parameters: (i) whether vCAUSE obligatorily requires the presence of an external argument or not; (ii) the complement of vCAUSE is root-selecting, verb-selecting or phase-selecting. Causatives in languages can be ronghly divided into two types, namely the lexical causatives and the productive ones. As far as lexical causatives are concerned, languages can be classified into Voice-bundling vs. Non-Voice-bundling ones according to whether the presence of an external argument (i.e, causer or cause) is obligatorily required in lexical causatives or not. English is Voice-bundling and Japanese is Non-Voice-bundling. Chinese stands as the third type of languages which may be called semi-Voice-bnndling language since lexical unaccusative causatives in Chinese are Non-Voice-bundling while action-result-compounds unaccusatives (resultative unaccusatives) are Voice-bundling. Causative heads of lexical cat, satires in these three languages are all root-selecting. 展开更多
关键词 lexical causatives voice-bundling root-selecting
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Whole-exome sequencing identifies a novel INS mutation causative of maturity-onset diabetes of the young 10 被引量:9
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作者 Jing Yan Feng Jiang +7 位作者 Rong Zhang Tongfu Xu Zhou Zhou Wei Ren Danfeng Peng Yong Liu Cheng Hu Weiping Jia 《Journal of Molecular Cell Biology》 SCIE CAS CSCD 2017年第5期376-383,共8页
Monognnic diabetes is often misdiagnosed with type 2 diabetes due to overlapping characteristics. This study aimed to discover novel causative mutations of monogenic diabetes in patients with clinically diagnosed type... Monognnic diabetes is often misdiagnosed with type 2 diabetes due to overlapping characteristics. This study aimed to discover novel causative mutations of monogenic diabetes in patients with clinically diagnosed type 2 diabetes and to explore potential molecular mechanisms. Whole-exome sequencing was performed on 31 individuals clinically diagnosed with type 2 diabetes. One novel heterozygnus mutation (p^la2Thr) in INS was identified. It was further gnnotyped in an additional case-control population (6523 cases and 4635 controls), and this variant was observed in 0.09% of cases. IntraceUular trafficking of insulin proteins was assessed in INSl-E and HEK293T cells, p.Ala2Thr preproinsuUn-GFP was markedly retained in the endoplasmic reticulum (ER) in INS1-E cells. Activation of the PERK-elF2a-ATF4, IREla-XBP1, and ATF6 pathways as well as upregulated ER chaperones were detected in INS1-E cells transfected with the p.Ala2Thr mutant. In conclusion, we identified a causative mutation in IN5 respon- sible for maturity-onset diabetes of the young 10 (MODYIO) in a Chinese population and demonstrated that this mutation affected 13 cell function by inducing ER stress. 展开更多
关键词 whole-exome sequencing causative mutation MODYIO endoplasmic reticulum stress
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Decade of insights on causes of scleral buckle failure in retinal detachment
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作者 Hu Cheng Liu Yin +6 位作者 Du Fan Zhu Li Xiang Nian Huang Zhijian Yan Ying Zeng Bo Chen Xiao 《国际眼科杂志》 2026年第2期197-201,共5页
AIM:To investigate the underlying causes of surgical failure and reoperation management in patients with rhegmatogenous retinal detachment(RRD)who underwent scleral buckle surgery at our institution.METHODS:This was a... AIM:To investigate the underlying causes of surgical failure and reoperation management in patients with rhegmatogenous retinal detachment(RRD)who underwent scleral buckle surgery at our institution.METHODS:This was a single-center,retrospective,descriptive study.The clinical data of 368 patients(387 eyes)with RRD who underwent scleral buckling(SB)surgery between August 2013 and July 2023 at our institution were collected.The aim was to analyze the causes of recurrence and the rationale for selecting reoperation methods.RESULTS:Totally 368 patients(387 eyes)were included in the analysis,comprising 222 males and 146 females.The average age was 30.26±14.18 years,and the mean follow-up duration was(48.33±20.39)mo.The success rate of SB surgery was 90.2%.Recurrent retinal detachment occurred in 38 eyes.Based on surgical records,the causes of SB failure were analyzed.The recurrence causes included abnormal compression ridge position(position,height,or width)in 14 eyes(36.8%,14/38),hole omission in 11 eyes(29.0%,11/38),proliferative vitreoretinopathy(PVR)in 10 eyes(26.3%,10/38),and new holes in 3 eyes(7.9%,3/38).Among these,8 eyes(21.1%,8/38)underwent repeat SB surgery,while the remaining 30 eyes(78.9%,30/38)underwent pars plana vitrectomy(PPV).Regarding tamponade agents,silicone oil was used in 11 eyes(36.7%,11/30),C_(3)F_(8) gas in 12 eyes(40.0%,12/30),and sterile air in 7 eyes(23.3%,7/30).CONCLUSION:SB surgery demonstrates a high success rate in the treatment of RRD.However,abnormal compression ridge position,missed holes during surgery,and PVR are the primary causes of SB failure.After addressing the reasons for failure,re-SB surgery or PPV can be effective alternatives. 展开更多
关键词 retinal detachment scleral buckling cause of failure REOPERATION
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Root cause analysis from the perspectives of patients in primary care units:cases study of typical adverse drug events
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作者 Ping Gong Xing-Yang Chen +1 位作者 Qin Long Ting-Ting Zhou 《Frontiers of Nursing》 2026年第1期61-68,共8页
Objective:To identify the root causes of typical adverse drug events through the lens of patient experiences proposing novel strategies to mitigate preventable harm.Methods:A qualitative case study leveraging in-depth... Objective:To identify the root causes of typical adverse drug events through the lens of patient experiences proposing novel strategies to mitigate preventable harm.Methods:A qualitative case study leveraging in-depth interviews with patients and families,anchored by Interactive Patient Par ticipation Theory,to analyze 4 high-severity adverse drug events(ADE)cases.Cases were purposively sampled from 8 communities in China's National Adverse Event Monitor Center(2018-2023).Semi-structured interviews explored patient perspectives,with data analyzed via thematic coding and triangulation against clinical records.Results:Five interconnected themes emerged:(1)erosion of trust,(2)communication breakdowns,(3)information asymmetry,(4)environmental inadequacies,and(5)technological alienation.Notably,75% of participants had≤high school education,and 50% used≥7 medications daily,compounding ADE risks.Conclusions:We considered elements mentioned by theory,exploring trust,communication,information,and suppor t as the root causes.In addition,we added“adaptability to new technology”as an impor tant and necessary component.It is impor tant and necessary to analyze typical adverse drug events from the perspectives of patients. 展开更多
关键词 adverse drug events case study medication safety patients safety primary care units root cause analysis qualitative study THEORY
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Kumtag 061:A heavily shocked brachinite
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作者 Yuwei Zhang Dongliang Zhang +5 位作者 Thomas Smith P.M.Ranjith Huaiyu He Guangming Song Yan Fan Shijie Li 《Acta Geochimica》 2026年第1期86-98,共13页
Brachinite is a group of primitive achondrites that enables investigating the evolution of asteroids not fully diff erentiated in the early stage of the solar system.Kumtag 061 is a new meteorite sample collected on O... Brachinite is a group of primitive achondrites that enables investigating the evolution of asteroids not fully diff erentiated in the early stage of the solar system.Kumtag 061 is a new meteorite sample collected on October 27,2019,in Kumtag Desert,Xinjiang Province,China.The oxygen isotope composition(δ^(18)O=5.086‰,δ^(17)O=2.396‰,Δ’^(17)O=-0.298‰)and petrologic and mineralogic analysis suggest Kumtag 061 is a heavy-impacted brachinite(S4-S5).The geochemical composition suggests Kumtag 061 represents a partial melting residue of the brachinite parent body.Based on the noble gas composition,the cosmic ray exposure age of Kumtag 061 is 60.9±9.0 Ma.Combined with the gas retention ages,they indicate a(series of)thermal events on the parent body of brachinites before Kumtag 061 was ejected into space. 展开更多
关键词 Brachinite Impaction caused features Partial melting residues of the parent body Noble gases
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Combined liver resection and peritoneal stripping for Echinococcus multilocularis
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作者 Kaitlyn R Musto Kristopher P Croome 《Hepatobiliary & Pancreatic Diseases International》 2026年第1期97-99,共3页
Echinococcus is a zoonotic parasite and 1 of 17 neglected tropical diseases with a worldwide distribution.The World Health Organization(WHO)targeted for control or elimination by 2050[1,2].Two main species of Echinoco... Echinococcus is a zoonotic parasite and 1 of 17 neglected tropical diseases with a worldwide distribution.The World Health Organization(WHO)targeted for control or elimination by 2050[1,2].Two main species of Echinococcus infect humans:Echinococcus granulosus,causing cystic echinococcosis(CE),and Echinococcus multilocularis(EM),causing alveolar echinococcosis(AE)[3].AE is much rarer but far more severe than CE and ranks as one of the most dangerous helminthic zoonoses in the world[4,5].Humans are rare aberrant intermediate hosts and typically become infected through the ingestion of EM eggs shed in the feces of definitive hosts[6].After an incubation period of many years,humans may develop AE[7].While slow-growing,AE is a devastating clinical condition characterized by silent progression and infiltrative proliferation of the parasite,mimicking a malignancy[7].Without appropriate treatment,AE has a death rate of more than 90%within 10 years of diagnosis[5].For this reason,AE must be considered in the differential diagnosis of patients presenting with a hepatic mass or malignancy. 展开更多
关键词 Echinococcus multilocularis echinococcus multilocularis em causing neglected tropical diseases Liver resection cystic echinococcosis ce helminthic zoonoses alveolar echinococcosis ae ae Peritoneal stripping
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Staphylococcus aureus Cultured from Sushi in China:Revealing the Potential Foodborne Pathogenic Risks based on Antimicrobial Susceptibility,Virulence Factors and Genetic Characteristics
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作者 Hui Li Xin Gan +6 位作者 Menghang Li Shiwei Liu Dajin Yang Lin Yan Séamus Fanning Li Bai Zhaoping Liu 《Biomedical and Environmental Sciences》 2026年第2期239-244,共6页
Staphylococcus aureus(S.aureus)is the third most common pathogen causing 10.6%of bacterial foodborne illnesses in China in 2021[1].Heat-stable Staphylococcal Enterotoxins(SEs)produced by S.aureus are the main contribu... Staphylococcus aureus(S.aureus)is the third most common pathogen causing 10.6%of bacterial foodborne illnesses in China in 2021[1].Heat-stable Staphylococcal Enterotoxins(SEs)produced by S.aureus are the main contributors to staphylococcal food poisoning(SFP),causing vomiting,diarrhea,abdominal pain,headache,muscle cramps,and other acute gastroenteritis symptoms.More than 25 SEs and staphylococcal enterotoxin-like toxins(SE/s)have been described and which together comprise a superfamily of pyrogenic toxin superantigens(SAgs)[2]. 展开更多
关键词 bacterial foodborne illnesses staphylococcus aureus saureus foodborne pathogenic risks staphylococcal food poisoning sfp causing pyrogenic toxin sup antimicrobial susceptibility genetic characteristics virulence factors
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Agentivity,Control and Semantic Structure in Russian Causatives
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作者 Valentina Apresjan 《语言学论丛》 2019年第1期241-262,共22页
The paper examines the correlation between the degree of agentivity in Russian causatives and their semantic structure.It supports the view that the distinction between agentivity vs.non-agentivity in causatives is an... The paper examines the correlation between the degree of agentivity in Russian causatives and their semantic structure.It supports the view that the distinction between agentivity vs.non-agentivity in causatives is an important feature with various ramifications,as demonstrated in Comrie(1976),Talmy(2000).It also motivates the role of the"control"feature in the event structure of the causatives. 展开更多
关键词 causative intentional CONTROL NEGATION scope PRESUPPOSITION ASSERTION
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Biallelic variants in SREBF2 cause autosomal recessive spastic paraplegia
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作者 Qiao Wei Wenlu Fan +9 位作者 Hong-Fu Li Pei-Shan Wang Man Xu Hai-Lin Dong Hao Yu Jialan Lyu Wen-Jiao Luo Dian-Fu Chen Wanzhong Ge Zhi-Ying Wu 《Journal of Genetics and Genomics》 2025年第8期1021-1033,共13页
Hereditary spastic paraplegias(HSPs)refer to a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by the degeneration of motor neurons.To date,a significant number of patients ... Hereditary spastic paraplegias(HSPs)refer to a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by the degeneration of motor neurons.To date,a significant number of patients still have not received a definite genetic diagnosis.Therefore,identifying unreported causative genes continues to be of great importance.Here,we perform whole-exome sequencing in a cohort of Chinese HSP patients.Three homozygous variants(p.L604W,p.S517F,and p.T984A)within the sterol regulatory element-binding factor 2(SREBF2)gene are identified in one autosomal recessive family and two sporadic patients,respectively.Co-segregation is confirmed by Sanger sequencing in all available members.The three variants are rare in the public or in-house database and are predicted to be damaging.The biological impacts of variants in SREBF2 are examined by functional experiments in patient-derived fibroblasts and Drosophila.We find that the variants upregulate cellular cholesterol due to the overactivation of SREBP2,eventually impairing the autophagosomal and lysosomal functions.The overexpression of the mature form of SREBP2 leads to locomotion defects in Drosophila.Our findings identify SREBF2 as a causative gene for HSP and highlight the impairment of cholesterol as a critical pathway for HSP. 展开更多
关键词 Hereditary spastic paraplegia causative gene SREBF2 CHOLESTEROL Locomotion defects
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观察性研究中的因果图和混杂因素的识别和选择准则
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作者 刘慧珍 周小芹 +1 位作者 王婷 康德英 《药物流行病学杂志》 2025年第10期1206-1212,共7页
在观察性研究中,准确可靠地估计暴露对结局的因果效应是其核心目标,而确定并充分矫正混杂因素是实现这一目标的关键前提和核心挑战。混杂因素控制不当——无论是遗漏关键混杂(导致残余混杂),还是过度调整无关变量(引入碰撞偏倚等)——... 在观察性研究中,准确可靠地估计暴露对结局的因果效应是其核心目标,而确定并充分矫正混杂因素是实现这一目标的关键前提和核心挑战。混杂因素控制不当——无论是遗漏关键混杂(导致残余混杂),还是过度调整无关变量(引入碰撞偏倚等)——都会直接扭曲效应估计结果,进而可能产生误导性的科学结论和临床决策。因此,开发并应用系统、透明且可重复的混杂因素识别与选择策略,对提升观察性研究因果推断的效度与可靠性具有根本性意义。本文通过系统综述有向无环图(DAGs)这一强大的可视化因果建模工具,并深入评析3种基于DAGs的主流混杂因素选择准则(Pre-exposure准则、Common cause准则、Modified disjunctive cause准则),为研究者提供一个结构化、理论依据充分的混杂因素识别与选择框架,以期显著优化观察性研究中因果效应的估计过程。 展开更多
关键词 混杂因素 混杂 有向无环图 Pre-exposure准则 Common cause准则 Modified disjunctive cause准则
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