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Rare germline copy number variants in colorectal cancer predisposition characterized by exome sequencing analysis

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Journal of genetics and genomics 2018年第1期45卷 41-45页

作者： Sebastia Franch-Exposito Clara Esteban-Jurado Pilar garre isabel Quintanilla Saray duran-Sanchon Marcos diaz-gay Laia Bonjoch Miriam Cuatrecasas Esther Samper Jenifer Munoz Teresa Ocana Sabela Carballal Maria Lopez-Ceron Antoni Castells Maria vila-Casadesus Sophia derdak Steven Laurie Sergi Beltran Jaime carvajal Luis Bujanda Clara Ruiz-Ponte Jordi Camps Meritxell gironella Juan Jose Lozano Francesc Balaguer Joaquin Cubiella Trinidad Caldes Sergi Castellvi-Bel gastroenterology department Hospital Clinic de Barcelona August Pi i Sunyer Biomedical Research Institute CIBER of Hepatic and Digestive Diseases University of Barcelona Barcelona 08036 Spain Molecular Oncology Laboratory Hospital Clinico San Carlos Health Research Institute of the Hospital Clinico San Carlos Madrid 28040 Spain department of Pathology Hospital Clinic de Barcelona Barcelona 08036 Spain EPiCOLON consortium Bioinformatics Platform CIBER of Hepatic and Digestive Diseases Barcelona 08036 Spain National Center of genomic Analysis Science Park of Barcelona Barcelona 08028 Spain Andalusian developmental Biology institute CSIC-Pablo de Olavide University-Andalusian Regional Government SeviUa 41013 Spain gastroenterology department Hospital Donostia-Biodonostia Institute CIBER of Hepatic and Digestive Diseases University of the Basque Country (UPV/EHU) San Sebastian 20080 Spain galician Public Foundation of genomic Medicine (FPgMX) CIBER of Rare Diseases Genomics Medicine Group Hospital Clinico Universitario University of Santiago de Compostela Santiago de Cornpostela 15706 Spain Castroenterology department Complexo Hospitalario Universitario de Ourense Ourense Biomedical Research Institute Ourense 32005 Spain

Colorectal cancer （CRC） is one of the most common neoplasms and an important cause of mortality worldwide （http：//globocan. ***]）. Approximately 35% of the variation in CRC susceptibility is likely due to heritable factors （Lichtenstein et al., 2000}. genetic variations in the human genome include single nucleotide variants （SNVs）, short insertions and deletions, and larger structural variants resulting in gain or loss of genomic dNA larger than 1 kb, such as copy number variants （CNVs）. Leaving aside the importance of CNVs in sporadic tumor development, these variants can also be present in the germline dNA of healthy individuals from the general population and be considered polymorphic.

关键词： WHOLE-EXOME gENE

Liver failure after an uncovered TiPS procedure associated with hepatic infarction

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World Journal of Hepatology 2010年第4期2卷 167-170页

作者： Eric López-Méndez daniel Zamora-Valdés Mariana díaz-Zamudio Oscar F Fernández-díaz Lourdes ávila department of gastroenterology National Institute of Medical Sciences and Nutrition Salvador Zubirán (INCMNSZ) Vasco de Quiroga 15 Zip Code 14000 Mexico City Mexico department of Surgery INCMNSZ Vasco de Quiroga 15 Zip Code 14000 Mexico City Mexico department of Radiology and imaging INCMNSZ Vasco de Quiroga 15 Zip Code 14000 Mexico City Mexico

Transjugular intrahepatic portosystemic shunt (TiPS) is a safe and effective procedure for the treatment of complications of liver cirrhosis, such as refractory ascites, hepatic hydrothorax and refractory variceal bleeding. The aim of this paper is to describe a rare case of liver failure after a TiPS procedure. A 38-year-old diabetic male with Child-Pugh C liver cirrhosis due to chronic hepatitis C infection who had developed refractory ascites was scheduled for a TiPS procedure. Within 24 h following TiPS placement, the patient developed distributive shock, jaundice, persistentgrade 3 hepatic encephalopathy, severe coagulopathy andacute renal failure. He was treated with lactulose enemas, broad-spectrum antibiotics and blood-derived products. Laboratory data revealed a 100-fold increase in aminotransferases and a non-enhanced computed tomography showed an irregular hypodense area in the right posterior segment of the liver. despite being initially being in a stable condition, the patient developed progressive liver failure and died 2 mo later. Hepatic infarction is an uncommon phenomenon after a TiPS procedure; however, it can greatly complicate the course of a disease in a patient with an already compromised liver function.

关键词： Hepatic ischemia ischemic hepatitis Liver infarc tion Transjugular intrahepatic portosystemic shunt Complications

Store of value or speculative investment?Market reaction to corporate announcements of cryptocurrency acquisition

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Financial innovation 2023年第1期9卷 3106-3136页

作者： Andréd.gimenes Jéfferson A.Colombo imran Yousaf Banco Bradesco SA(NYSE:BBd B3:BBDC3)Cidade de DeusS/no Vila YaraOsascoSP 06029‑900Brazil São Paulo School of Economics Getulio Vargas Foundation(FGVEESPBrazil)474 Itapeva St.‑Bela VistaSão PauloSP 01332‑000Brazil College of Business and Public Management Wenzhou-Kean UniversityWenzhouChina Adnan Kassar School of Business Lebanese American UniversityBeirutLebanon

in this study,we analyze the stock market reaction to 35 events associated with 32 publicly traded companies from six countries that have announced cryptocurrency acquisitions,selling,or acceptance as a means of *** analysis focuses on traditional firms whose core business is unrelated to blockchain or *** find that the aggregate market reaction around these events is slightly positive but statistically insignificant for most event ***,when we perform heterogeneity analyses,we observe significant differences in market reaction between events with high(larger CARs)and low cryptocurrency exposure(lower CARs).Multivariate regressions show that the level of exposure to cryptocurrency("skin in the game")is a critical factor underlying abnormal returns around the *** analyses reveal that economically meaningful acquisitions of BTC or ETH(relative to firm’s total assets)drive the observed *** findings have important implications for managers,investors,and analysts as they shed light on the relationship between cryptocurrency adoption and firm value.

关键词： Corporate cryptocurrency acquisition Bitcoin Cryptocurrency Blockchain Market reaction

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诺加利斯学院自助餐厅

新建筑 2015年第6期 63-63页

作者： daniel Bonilla Rodrigo dávila 宋玮 EMBT中国地区

建筑师希望建造一个既有结构表现力又具抗震能力的构筑物。整个亭子的设计都基于一种＂V＂字形柱的不断旋转与反转,创造出一个看似随意的整体空间。生成的形状在抗震方面优势明显。全部柱子包裹在两个水平延展平面之间,地面被扩大与延伸... 详细信息

建筑师希望建造一个既有结构表现力又具抗震能力的构筑物。整个亭子的设计都基于一种＂V＂字形柱的不断旋转与反转,创造出一个看似随意的整体空间。生成的形状在抗震方面优势明显。全部柱子包裹在两个水平延展平面之间,地面被扩大与延伸了,建筑物像漂浮在草地上。整个建筑体量被简单的功能分区分隔为两个独立区域：厨房与大餐厅。大餐厅在空闲时可兼作报告厅,以满足学院多功能使用的需求。

关键词：餐厅学院自助抗震能力建筑师既有结构整体空间功能分区

Pramipexole, a dopamine d3/d2 receptor-preferring agonist, attenuates reserpine-induced fibromyalgia-like model in mice

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Neural Regeneration Research 2022年第2期17卷 450-458页

作者： Carlos Pereira Martins Rodrigo Sebben Paes gabriela Mantovani Baldasso Eduarda gomes Ferrarini Rahisa Scussel Rubya Pereira Zaccaron Ricardo Andrez Machado-de-Avila Paulo Cesar Lock Silveira Rafael Cypriano dutra Laboratory of Autoimmunity and immunopharmacology Department of Health SciencesCampus AraranguaUniversidade Federal de Santa CatarinaAraranguáSCBrazil Post-graduate Program of Neuroscience Center of Biological SciencesUniversidade Federal de Santa CatarinaFlorianópolisSCBrazil Laboratory of Experimental Physiopathology Program of Postgraduate in Science of HealthUniversidade do Extremo Sul CatarinenseCriciumaSCBrazil

Fibromyalgia(FM) is a complex pathology described as persistent hyperalgesia including somatic and mood dysfunctions, depression and anxiety. Although the etiology of FM is still unknown, a significant decrease in biogenic amines is a common characteristic in its pathogenesis. Here, our main objective was to investigate the role of dopamine d3/d2 receptor during the reserpine-induced pain in mice. Our results showed that pramipexole(PPX) – a dopaminergic d3/d2 receptor agonist – inhibited mechanical allodynia and thermal sensitivity induced by reserpine. Relevantly, PPX treatment decreased immobility time and increased the number of grooming in the forced swimming test and splash test, respectively. Animals that received PPX remained longer in the open arms than the reserpine group using elevated plusmaze apparatus. The repeated PPX administration, given daily for 4 days, significantly blocked the mechanical and thermal allodynia during FM model, similarly to pregabalin, although it failed to affect the reserpine-induced thermal nociception. Reserpine administration induced significant downregulation of dopamine concentration in the central nervous system, and repeated treatment with PPX restored dopamine levels in the frontal cortex and spinal cord tissues. Moreover, PPX treatment inhibited oxidants production such as dCFH(2′,7′-dichlorodihydrofluorescein) and nitrite, also decreased oxidative damage(carbonyl), and upregulated the activity of superoxide dismutase in the spinal cord. Together, our findings demonstrated the ability of dopamine d3/d2 receptor-preferring agonist in reducing pain and mood dysfunction allied to FM in mice. All experimental protocols were approved by the Universidade Federal de Santa Catarina(UFSC) Ethics Committee(approval No. 2572210218) on May 10, 2018.

关键词： dopamine dopaminergic system fibromyalgia hyperalgesia pain pramipexole reserpine

Turbo-taxonomy to assemble a megadiverse lichen genus:seventy new species of Cora(Basidiomycota:Agaricales:Hygrophoraceae),honouring david Leslie Hawksworth’s seventieth birthday

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Fungal diversity 2017年第3期84卷 139-207页

作者： Robert Lücking Manuela dal Forno Bibiana Moncada Luis Fernando Coca Leidy Yasmín Vargas-Mendoza André Aptroot Laura Juliana Arias Betty Besal Frank Bungartz diego Mauricio Cabrera-Amaya Marcela E.S.Cáceres José Luis Chaves Sionara Eliasaro Martha Cecilia gutiérrez Jesús E.Hernández Marin María de los Ángeles Herrera-Campos María E.Holgado-Rojas Harald Jonitz Martin Kukwa Fabiane Lucheta Santiago Madriñán Marcelo Pinto Marcelli Suzana Maria de Azevedo Martins Joel A.Mercado-díaz Jorge Alberto Molina Eduardo A.Morales Peter R.Nelson Freddy Nugra Francisco Ortega Telma Paredes Ayda Lucía Patiño Rouchi Nadine Peláez-pulido Rosa Emilia Pérez Pérez gary B.Perlmutter Eimy Rivas-Plata Javier Robayo Camilo Rodríguez diego Fernando Simijaca Edier Soto-Medina Adriano Afonso Spielmann Alejandra Suárez-Corredor Jean-Marc Torres Carlos Alberto Vargas Alba Yánez-Ayabaca gothamie Weerakoon Karina Wilk Marcela Celis Pacheco Mauricio diazgranados grischa Brokamp Thomas Borsch Patrick M.gillevet Masoumeh Sikaroodi James d.Lawrey Botanical garden and Botanical Museum Berlin KöniginLuise-Straße 6-814195 BerlinGermany Science Education The Field Museum1400 South Lake ShoreChicagoIL 60605USA department of Botany Smithsonian InstitutionNational Museum of Natural History10th St Constitution Ave NWWashingtonDC 20560USA department of Environmental Science and Policy George Mason UniversityFairfaxVA 22030-4444USA Licenciatura en Biologı´a Universidad Distrital Francisco Jose´de CaldasCra.4 No.26D-54Torre de LaboratoriosHerbarioBogota´D.C.Colombia Herbario Universidad de Caldas(FAUC) Edificio BicentenarioCalle 65No.26-10ManizalesA.A.275CaldasColombia ABL Herbarium G.v.d.Veenstraat 1073762 XK SoestThe Netherlands Biologı´a Universidad del Quindı´oCarrera 15 Calle 12 NorteArmeniaQuindı´oColombia 120 Chavis Avenue LexingtonVA 24450USA Charles darwin Foundation Puerto AyoraSanta Cruz IslandGala´pagosEcuador Schedestraße 8 53113 BonnGermany Jardı´n Bota´nico de Bogota´Jose´Celestino Mutis Avenida Calle 63 No.68-95Bogota´D.C.Colombia departamento de Biocieˆncias Universidade Federal de SergipeAvenida Vereador Olı´mpio Grandes/n.ItabaianaCEP:49.500-000 SergipeBrazil Laboratorio de Hongos Instituto Nacional de Biodiversidad(INBio)Apdo.22-3100Santo Domingo de HerediaCosta Rica departamento de Botaˆnica Universidade Federal do Parana´Campus Polite´cnicoSetor de Cieˆncias Biolo´gicasAv.Cel.Francisco H.dos Santoss/nJardim das Ame´ricas81531-980 CuritibaPRBrazil ingenierı´a Ambiental Universidad Distrital Francisco Jose´de CaldasCarrera 5 Este No.15-82Av.CircumvalarBogota´D.C.Colombia instituto Experimental Jardı´n Bota´nico dr.Tobı´as Lasser Centro de Investigacio´n y DesarrolloUniversidad Central de VenezuelaAve.Salvador AllendeJardı´n Bota´nico de CaracasApartado#2156Caracas 1010-AVenezuela departamento de Bota´nica Instituto de Biologı´aUniversidad Nacional Auto´noma de Me´xicoApartado Postal 70-36704510 Ciudad De Me´xicoMexico Facultad de Ciencias Escuela Profesional de Biologı´aUniv

Following a large-scale phylogenetic study of the lichenized genus Cora(Basidiomycota:Agaricales:Hygrophoraceae),we formally describe 70 new species,honouring the seventieth birthday of david Leslie Hawksworth,one of the preeminent figures in mycology and lichenology in the past 50 *** on an updated phylogeny using the iTS fungal barcoding locus,we now recognize 189 taxa in a genus that until recently was considered to represent a single species;including this contribution,92 of these are formally recognized,including five taxa based on historical names or collections that have not been *** of Cora can be recognized by a combination of morphological(size,colour,lobe configuration,surface hairs,hymenophore size and shape),anatomical(thallus thickness,cortex structure,photobiont type,hyphal papillae),and ecogeographical features(substrate,habitat,distribution),and a keytable allowing the identification of all accepted taxa is *** new species are:Cora accipiter Moncada,Madrin˜a´n&Lücking ***.,*** Moncada,Soto-Medina&Lücking ***.,*** Moncada,dal Forno&Lücking ***.,*** dal Forno,Chaves&Lücking ***.,*** Moncada,***ı´guez&Lücking ***.,*** Lücking,Moncada&*** ***.,*** Moncada,Ya´nez-Ayabaca&Lücking ***.,*** Moncada,Patin˜o&Lücking ***.,*** Lücking,***&dal Forno ***.,*** Holgado,Rivas Plata&Perlmutter ***.,*** dal Forno,Eliasaro&Spielmann ***.,*** Nugra,dal Forno&Lücking ***.,*** Lücking,Martins&Lucheta ***.,*** Moncada,R.-***´rez&Lücking ***.,*** Moncada,***.&Lücking ***.,*** Moncada,CabreraAmaya&Lücking ***.,*** Moncada,R.-***´rez&***.,*** Lücking,***&dal Forno ***.,*** Moncada,***´rez-Corredor&Lücking ***.,*** Moncada,***&Lücking ***.,***

关键词： Bolivia Citizen science Chile Mexico Puerto Rico Sri Lanka

What is the optimal level of vitamin d in non-dialysis chronic kidney disease population?

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World Journal of Nephrology 2016年第5期5卷 471-481页

作者： Pablo Molina JoséL górriz Mariola d Molina Sandra Beltrán Belén Vizcaíno Verónica Escudero Julia Kanter Ana iávila Jordi Bover Elvira Fernández Javier Nieto Secundino Cigarrán Enrique gruss gema Fernández-Juárez Alberto Martínez-Castelao Juan F Navarro-gonzález Ramón Romero Luis M Pallardó department of Nephrology Dr Peset University Hospital46017 ValenciaSpain department of Medicine Universitat de València46005 ValenciaSpain department of Mathematics Universidad de AlicanteSan Vicente del Raspeig03690 AlicanteSpain department of Nephrology FundacióPuigvert080348 BarcelonaSpain department of Nephrology Hospital Uni-versitari de LleidaIRBlleida(Institut de Reserca Biomèdica de Lleida)25198 LleidaSpain department of Nephrology Hospital General Universitario de Ciudad Real13005 Ciudad RealSpain department of Nephrology Hospital da Costa Burela7880 LugoSpain department of Nephrology Hospital Universitario Fundación Alcorcón28922 MadridSpain department of Nephrology Hospital Universitario de BeellvitgeIDIBELLL'Hospitalet de Llobregat08907 BarcelonaSpain Research Unit and department of Nephrology University Hospital Nuestra Senora de Candelaria38010 Santa Cruz de TenerifeSpain department of Medicine Universitat Autònoma de Barcelona08193 BarcelonaSpain

AiM To evaluate thresholds for serum 25(OH)d concentrations in relation to death, kidney progression and hospitalization in non-dialysis chronic kidney disease(CKd) *** Four hundred and seventy non-dialysis 3-5 stage CKd patients participating in OSERCE-2 study, a prospective, multicenter, cohort study, were prospectively evaluated and categorized into 3 groups according to 25(OH)d levels at enrollment(less than 20 ng/mL, between 20 and 29 ng/mL, and at or above 30 ng/mL), considering 25(OH)d between 20 and 29 ng/mL as reference group. Association between 25(OH)d levels and death(primary outcome), and time to first hospitalization and renal progression(secondary outcomes) over a 3-year followup, were assessed by Kaplan-Meier survival curves and Cox-proportional hazard models. To identify 25(OH)d levels at highest risk for outcomes, receiver operating characteristic(ROC) curves were *** Over 29 ± 12 mo of follow-up, 46(10%) patients dead, 156(33%) showed kidney progression, and 126(27%) were hospitalized. After multivariate adjustment, 25(OH)d g/mL was an independent predictor of all-cause mortality(HR = 2.33; 95%Ci: 1.10-4.91; P = 0.027) and kidney progression(HR = 2.46; 95%Ci: 1.63-3.71; P group with 25(OH)d at or above 30 ng/mL did not have a different hazard for outcomes from the reference group. Hospitalization outcomes were predicted by 25(OH) levels(HR = 0.98; 95%Ci: 0.96-1.00; P = 0.027) in the unadjusted Cox proportional hazards model, but not after multivariate adjusting. ROC curves identified 25(OH)d levels at highest risk for death, kidney progression, and hospitalization, at 17.4 ng/mL [area under the curve(AUC) = 0.60; 95%Ci: 0.685-0.69; P = 0.027], 18.6 ng/mL(AUC = 0.65; 95%Ci: 0.60-0.71; P d 19.0 ng/m L(AUC = 0.56; 95%Ci: 0.50-0.62; P = 0.048), ***25(OH)d g/mL was an independent predictor of death and progression in patients with stage 3-5 CKd, with no addit

关键词： Vitamin d Chronic kidney disease Mortality Renal progression Hospitalization

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圣达菲TORi TORi餐厅

现代装饰 2020年第7期 52-57页

作者： Héctor Esrawe(主创设计) Javier garcia-Rivera Lilian Betancourt Roberto gonzález Cristina Margain Fabián dávila Enrique Tovar Abraham Carrillo Viviana Contreras Vanessa Ortega Alejandro Uribe daniel Serna genevieve Lutkin(摄影) Jaime Navarro(摄影) César Béjar(摄影) 郭映琴(编译) Esrawe Studio

圣达菲TORi TORi餐厅是墨西哥著名日式餐厅的第五家分店,开设在圣达菲区一公司大楼建筑一层。受日本精细的手工技艺所启发,设计师在宁静而简约的餐厅中悬挂了一大一小夺人眼球的橡木装置,以凸显室内空间的规模。木制装置的纹理使人联想... 详细信息

圣达菲TORi TORi餐厅是墨西哥著名日式餐厅的第五家分店,开设在圣达菲区一公司大楼建筑一层。受日本精细的手工技艺所启发,设计师在宁静而简约的餐厅中悬挂了一大一小夺人眼球的橡木装置,以凸显室内空间的规模。木制装置的纹理使人联想到武士的盔甲,其在日语中被称为do。其中较小的装置划分出打包外带区,另一个较大的置于主铁板烧桌上方,成为一个柱状的排烟罩。

关键词：公司大楼排烟罩室内空间圣达菲餐厅一大一小手工技艺铁板烧

EFNS急性卒中神经影像学指南EFNS特别工作组的报道

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国际脑血管病杂志 2007年第8期15卷 566-576页

作者： J.C. Masdeu P. irimia S. Asenbaum J. Bogousslavsky M. Brainin H. Chabriat K. Herholz H.S. Markus E. Martínez-vila K. Niederkorn P.d. Schellinger R.J. Seitz 林曰增（译） From the department of Neurology and Neurosurgery Uniuersity of Navarra Pamplona Spain department of Neurology Medical University of Vienna Vienna Austria department of Neurology Centre Hospitalier Universitaire Vaudois Lausanne Switzerland department of Neurology Donauklinikum and Donau-Universitat Maria Gugging Austria department of Neurology I.zriboisiere Hospital University of Paris Paris Frame Wolfson Molecular imaging Centre University of Manchester Manchester department of Neurology and Clinical Neuroscience St George＇s Hospital Medical School London UK department of Neurology Karl Franzens University Graz Austria department of Neurology University Clinic at Heidelberg Genmany arid department of Neurology University Hosnital Düsseldorf Düsseldorf Germary 南军区青岛第一疗养院放射科青岛266071

神经影像学技术对于卒中的评价是必需的。在发达国家，卒中是死亡和神经功能缺损的前几位原因之一。可供使用的影像学技术的多样性增加了临床医师决策的复杂性。我们全面回顾了1965-2005年的英文文献并对相关出版物进行了严格评价。专... 详细信息

神经影像学技术对于卒中的评价是必需的。在发达国家，卒中是死亡和神经功能缺损的前几位原因之一。可供使用的影像学技术的多样性增加了临床医师决策的复杂性。我们全面回顾了1965-2005年的英文文献并对相关出版物进行了严格评价。专家组成员检查和修改了初稿，然后按照欧洲神经病学学会联盟（EFNS）标准，对分层推荐意见达成共识。CT平扫是卒中患者初步评价的一种固定的影像学检查。然而，MRi对于显示梗死或缺血区较CT更为敏感，而且还能显示急性和慢性脑出血。灌注和弥散MRi和磁共振血管成像（MRA）对缺血性卒中的急性期评价非常有用。对于脑动脉瘤的筛查以及脑静脉血栓形成和动脉夹层分离的诊断，MRi和MRA是推荐的影像学技术。对于颅外血管的无创性检查，MRA不如超声检查轻便且价格更加昂贵，但它对颈动脉狭窄的敏感性和特异性更高。经颅多普勒对于监测溶栓治疗后的动脉再灌注、诊断颅内血管狭窄和右向左分流以及监测蛛网膜下腔出血后的血管痉挛非常有用。目前，单光子发射体层摄影和正电子发射体层摄影在急性卒中患者评价中的作用非常有限。

关键词：计算机体层摄影 CT血管造影磁共振成像磁共振血管造影灌注卒中超声