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Cytogenetic and Molecular Characterization of Hematological Neoplasm in an Ecuadorian Population

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Open j.urnal of Blood Diseases 2013年第4期3卷 108-115页

作者： Cesar paz-y-mino Maria Eugenia Sanchez Santiago Arauj. Ligia Ocampo Victor Hugo Espin Paola ELeone Instituto de Investigaciones Biomedicas Universidad de las AmericasQuitoEcuador Laboratorio de Genetica Sociedad de Lucha contra el Cancer(SOLCA)QuitoEcuador Laboratorio de Genetica Hospital Carlos Andrade MarinQuitoEcuador.

Cancer is one of the maj.r causes of mortality in Ecuador and annually, hematological malignancies are within the top ten most common cancers. In this multicentric study, we analyzed a series of patients diagnosed with different hematological disorders between the years 1984 and 2012. Chromosome abnormalities were detected in 1886 (45.9%) patients. FISH and RT-PCR techniques were used in order to determine the presence of genetic rearrangements and complement conventional cytogenetics results. Using FISH and RT-PCR, positive cases were increased by 1.8% and 6.9% respec- tively. We analyzed fusion genes resulting from t(8;21), t(15;17), inv(16), t(9;22), 11q23 rearrangements, t(4;11) and t(1;19). The frequency of transcripts of some of these fusion genes was of particular interest as our results differ from studies on other populations. Specifically, the fusion gene BCR-ABL was present in the form of the b2/a2 transcript in 95% of CML patients and in the form of b3/a2 transcript in the remaining 5%. The PML-RARA fusion gene also showed a distinct pattern of transcript expression. This fusion gene exhibited the bcr2 (36%) and bcr3 (64%) transcripts, how- ever the bcr1 transcript was absent from our sample population. All cases carrying the CBFB-MyH11 fusion gene ex- hibited the F transcript. This was also of interest due to the rarity of this particular transcript worldwide. Finally all cases carrying the MLL-AF4 fusion gene displayed the e7-e8 transcript. The frequency of the subtypes of some fusion genes differ from those reported in other populations, possibly due to the particular genetic make-up of the Ecuadorian population, mostly mestizo, as well as environmental factors.

关键词： Hematological Diseases Chromosomal Aberration BCR-ABL PML-RARA CBFB-MyH11 MLL-AF4 Geographical Heterogeneity

Temperature changes in the root ecosystem affect plant functionality

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Plant Communications 2023年第3期4卷 197-214页

作者： Mary paz González-García Carlos M.Conesa Alberto Lozano-Enguita Victoria Baca-González Bárbara Simancas Sara Navarro-Neila María Sánchez-Bermúdez Isai Salas-González Elena Caro Gabriel Castrillo juan C.del Pozo Centro de Biotecnología y Genómica de Plantas(UPM-INIA/CSIC) Universidad Politécnica de Madrid(UPM)-Instituto Nacional de Investigación y Tecnología Agrariay Alimentaria-CSIC(INIA/CSIC)Campus Montegancedo28223 Pozuelo de Alarcón(Madrid)Spain Departamento de Biotecnología-Biología Vegetal Escuela Técnica Superior de Ingeniería AgronómicaAlimentaria y de BiosistemasUniversidad Politécnica de Madrid(UPM)28040 MadridSpain Undergraduate Program in Genomic Sciences Center for Genomics SciencesUniversidad Nacional Autonóma de MéxicoAv.Universidad s/n.Col.ChamilpaCuernavaca 62210MorelosMéxico Future Food Beacon of Excellence&School of Biosciences University of NottinghamSutton BoningtonUK

Climate change is increasing the frequency of extreme heat events that aggravate its negative impact on plant development and agricultural *** experiments designed to study plant adaption to heat stress apply homogeneous high temperatures to both shoot and ***,this treatment does not mimic the conditions in natural fields,where roots grow in a dark environment with a descending temperature *** high temperatures severely decrease cell division in the root meristem,compromising root growth,while increasing the division of quiescent center cells,likely in an attempt to maintain the stem cell niche under such harsh ***,we engineered the TGRooZ,a device that generates a temperature gradient for in vitro or greenhouse growth *** root systems of plants exposed to high shoot temperatures but cultivated in theTGRooZ grow efficiently and maintain their functionality to sustain proper shoot growth and ***,gene expression and rhizosphere or root microbiomecomposition are significantly less affected in TGRooZ-grown roots than in high-temperature-grown roots,correlating with higher root *** data indicate that use of the TGRooZ in heat-stress studies can improve our knowledge of plant response to high temperatures,demonstrating its applicability from laboratory studies to the field.

关键词： heat stress root temperature gradient nutrition gene expression microbiome

Alcoholic liver disease:Utility of animal models

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World j.urnal of Gastroenterology 2018年第45期24卷 5063-5075页

作者： Arantza Lamas-paz Fengj.e Hao Leonard j.Nelson Maria Teresa Vázquez Santiago Canals Manuel Gómez del Moral Eduardo Martínez-Naves yulia A Nevzorova Francisco j.vier Cubero Department of Immunology Ophthalmology and ORLComplutense University School of MedicineMadrid 28040Spain 12 de Octubre Health Research Institute(imas12) Madrid 28041Spain Institute for Bioengineering(IBioE) School of EngineeringFaraday BuildingThe University of EdinburghEdinburgh EH9 3 JLScotlandUnited Kingdom Department of Human Anatomy and Embryology Complutense University School of MedicineMadrid 28040Spain Instituto de Neurociencias Consejo Superior de Investigaciones CientíficasUniversidad Miguel HernándezSan Juan de Alicante 03550Spain Department of Cell Biology Complutense University School of MedicineMadrid 28040Spain Department of Genetics Physiology and MicrobiologyFaculty of BiologyUniversidad ComplutenseMadrid 28040Spain Department of Internal Medicine Ⅲ University Hospital RWTH AachenAachen 52062Germany

Alcoholic liver disease(ALD) is a maj.r cause of acute and chronic liver inj.ry. Extensive evidence has been accumulated on the pathological process of ALD during the past decades. However, effective treatment options for ALD are very limited due to the lack of suitable in vivo models that recapitulate the full spectrum of ALD. Experimental animal models of ALD, particularly rodents, have been used extensively to mimic human ALD. An ideal animal model should recapitulate all aspects of the ALD process, including significant steatosis, hepatic neutrophil infiltration, and liver inj.ry. A better strategy against ALD depends on clear diagnostic biomarkers, accurate predictor(s) of its progression and new therapeutic approaches to modulate stop or even reverse the disease. Numerous models employing rodent animals have been established in the last decades to investigate the effects of acute and chronic alcohol exposure on the initiation and progression of ALD. Although significant progress has been made in gaining better knowledge on the mechanisms and pathology of ALD, many features of ALD are unknown, and require further investigation, ideally with improved animal models that more effectively mimic human ALD. Although differences in the degree and stages of alcoholic liver inj.ry inevitably exist between animal models and human ALD, the acquisition and translational relevance will be greatly enhanced with the development of new and improved animal models of ALD.

关键词： Steatohepatitis Cirrhosis Hepatocellular carcinoma Alcoholic liver disease Reactive oxygen species

XAANTAL2 （AGL14） Is an Important Component of the Complex Gene Regulatory Network that Underlies Arabidopsis Shoot Apical Meristem Transitions

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Molecular Plant 2015年第5期8卷 796-813页

作者： Rigoberto V. Perez-R.u.iz Berenice Garcia-Ponce Nayelli Marsch-Martinez yamel Ugartechea-Chirino Mitzi Villajuana-Bonequi Stefan de Folter Eugenio Azpeitia j.se Davila-Velderrain David Cruz-Sanchez Adriana Garay-Arroyo Maria de la paz Sanchez juan M. Estevez-Palmas Elena R. Alvarez-Buylla Instituto de Ecologia Universidad Nacionat Autonoma de Moxico 3er Circuito Exterior s/no Junto al Jardin Bot~nico and Centro de Ciencias de la ComplejidadCiudad Universitaria Coyoacan 04510 Mexico D.F. Mexico Laboratorio Nacional de Genemica para la Biodiversidad (Langebio) Centro de Investigaci6n y de Estudios Avanzados del Instituto Polit~cnico Nacional(CINVESTAV-IPN) Km. 9.6 Carretera Irapuato - Leen AP 629 36821 Irapuato Guanajuato Mexico University of California 431 Koshland Hall Berkeley CA 94720 USA These authors contributed equally to this article. present address: Departamento de Biotecnologia y Biquimica Centro de )nvestigaci6n y de Estudios Avanzados del Instituto Polit6cnico Nacional(CINVESTAV-IPN) Km. 9.6 Libramiento Norte Carr. Irapuato-Leen 36821 Irapuato Guanajuato Mexico present address: Max Planck Institute for Plant Breeding Research D-50829 Cologne Germany Present address: INRIA Proj.ct-Team Virtual Plants/CIRAD/INRA UMR AGAP Campus St Priest - BAT 5 CC 05018 860 rue de St Priest 34095 Montpellier Cedex5 France

In Arabidopsis thaliana, multiple genes involved in shoot apical meristem （SAM） transitions have been char- acterized, but the mechanisms required for the dynamic attainment of vegetative, inflorescence, and floral meristem （VM, IM, FM） cell fates during SAM transitions are not well understood. Here we show that a MADS-box gene, XAANTAL2 （XAL2/AGL14）, is necessary and sufficient to induce flowering, and its regula- tion is important in FM maintenance and determinacy, xal2 mutants are late flowering, particularly under short-day （SD） condition, while XAL2 overexpressing plants are early flowering, but their flowers have vege- tative traits. Interestingly, inflorescences of the latter plants have higher expression levels of LFy, AP1, and TFL1 than wild-type plants. In addition we found that XAL2 is able to bind the TFL1 regulatory regions. On the other hand, the basipetal carpels of the 35S：：XAL2 lines lose determinacy and maintain high levels of WUS expression under SD condition. To provide a mechanistic explanation for the complex roles of XAL2 in SAM transitions and the apparently paradoxical phenotypes of XAL2 and other MADS-box （SOCl, AGL24） over- expressors, we conducted dynamic gene regulatory network （GRN） and epigenetic landscape modeling. We uncovered a GRN module that underlies VM, IM, and FM gene configurations and transition patterns in wild- type plants as well as loss and gain of function lines characterized here and previously. Our approach thus provides a novel mechanistic framework for understanding the complex basis of SAM development.

关键词： XAL2/AGL14 MADS-box TFL1 SAM transitions floral reversion gene regulatory networks,epigenetic landscape modeling

Effect of Aspergillus niger prolyl endopeptidase in patients with celiac disease on a long-term gluten-free diet

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World j.urnal of Gastroenterology 2024年第11期30卷 1545-1555页

作者： juan Pablo Stefanolo Verónica Segura Martina Grizzuti Abel Heredia Isabel Comino Ana Florencia Costa Roberto Puebla María paz Temprano Sonia Isabel Niveloni Gabriel de Diego María E Oregui Edgardo Gustavo Smecuol Mauricio C de Marzi Elena F Verdú Carolina Sousa j.lio César Bai Small Bowel Section Department of MedicineGastroenterology Hospital of Buenos Aires“Dr.C.Bonorino Udaondo”Buenos Aires 1264Argentina Department of Microbiology and Parasitology Faculty of PharmacyUniversity of SevilleSeville 41080Spain Department of Medicine Dr.C.Bonorino Udaondo Gastroenterology HospitalBuenos Aires 1264Argentina Basic and Applied Research Group in Immunology and Bioactives(GIBAIB) Institute of Ecology and Sustainable Development(INEDES)National University of LujanLuján 6700Buenos AiresArgentina Department of Medicine Farncombe Family Digestive Health Research InstituteMcMaster UniversityHamilton L8S 4L8OntarioCanada Facultad de Medicina Universidad del SalvadorBuenos Aires C1051ABBArgentina

BACKGROUND The gluten-free diet(GFD)has limitations,and there is intense research in the development of adj.vant *** To examine the effects of orally administered Aspergillus niger prolyl endopeptidase protease(AN-PEP)on inadvertent gluten exposure and symptom prevention in adult celiac disease(CeD)patients following their usual *** This was an exploratory,double-blind,randomized,placebo-controlled trial that enrolled CeD patients on a long-term *** a 4-wk run-in period,patients were randomized to 4 wk of two AN-PEP capsules(GliadinX;AVI Research,LLC,United States)at each of three meals per day or *** endpoints were:(1)Average weekly stool gluten immunogenic peptides(GIP)between the run-in and end of treatments and between AN-PEP and placebo;(2)celiac symptom index(CSI);(3)CeD-specific serology;and(4)quality of *** samples were collected for GIP testing by ELISA every Tuesday and Friday during run-ins and *** Forty patients were randomized for the intention-to-treat analysis,and three were excluded from the per-protocol ***,628/640(98.1%)stool samples were *** was undetectable(y high(>0.32μg/g)to potentially cause mucosal *** GIP concentration in the AN-PEP arm was 44.7%lower than in the run-in ***-third of patients exhibiting GIP>0.08μg/g during run-in had lower or undetectable GIP after AN-PEP *** with the run-in period,the proportion of symptomatic patients(CSI>38)in the AN-PEP arm was significantly lower(Py study conducted in a real-life setting revealed high adherence to the *** AN-PEP treatment did not significantly reduce the overall GIP stool ***,given the observation of a significantly lower prevale

关键词： Celiac disease Aspergillus niger prolyl endoprotease Gluten immunogenic peptides Trial Symptoms Real-life trial

GIS-based study of the evolution of the IGN's strong motion network of mainland Spain and the balearics

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Geodesy and Geodynamics 2021年第4期12卷 279-287页

作者： j.se-Lazaro Amaro-Mellado Daniel Anton juan-Manuel Alcalde Instituto Geografico Nacional Servicio Regional en AndaluciaSeville 41013Spain Departamento de Ingenierfa Grafica Universidad de SevillaSeville 41092Spain Research Group TEP970:Innovacion Tecnoldgica Sistemas de Modelado 3D y Diagnosis Energetica en Patrimonio y Edificacidn'Departamento de Expresion Grafica e Ingenieria en la EdificacionEscuela Tecnica Superior de Ingenieria de EdificacionUniversidad de Sevilla4A Reina Mercedes AvenueSeville 41012Spain The Creative and Virtual Technologies Research Laboratory School of ArchitectureDesign and the Built EnvironmentNottingham Trent University50 Shakespeare StreetNottingham NG14FQUK Escuela Superior de Ingenieria y Tecnologia Universidad Intemacional de La Rioja737 La Paz AvenueLogrono 26006Spain Instituto Geografico Nacional Red Sismica NacionalMadrid 28003Spain

In some countries with seismicity,an adequate detection network is essential to assess seismic *** Instituto Geografico Nacional(National Geographic Institute/IGN)of Spain manages a strong motion network distributed throughout the whole country and an earthquake detection network composed of velocity *** paper aims at studying the development of the strong motion network of the Spanish National Seismic Network(focusing on mainland Spain and the Balearics)in the last three decades.A Geographic Information System(GIS)has been implemented to integrate the attributes from the IGN’s database concerning the earthquake catalogue,seismograph and accelerometer networks,which enabled to analyse the data and map the distribution of detection equipments in the *** irregularly distributed Spanish strong motion network was greatly expanded from 1990 to *** the past decade,it developed at a slower rate,but more modern technology was implemented.

关键词： Strong motion Accelerometer network Spanish national seismic network Earthquake catalogue GIS

Hypertension effects on p73 expression in the rat circumventricular organs and cerebrospinal fluid

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World j.urnal of Neuroscience 2012年第2期2卷 68-73页

作者： Emilia M.Carmona-Calero Ibrahim González-Marrero Manuela Castaneyra-Martin juan M.Gonzalez-Toledo Leandro Castaneyra-Ruiz Hector de paz-Carmona Agustín Castaneyra-Ruiz Lidia Ruiz-Mayor Agustín Castaneyra-Perdomo Departamento de Anatomía Facultad de MedicinaUniversidad de La LagunaTenerifeIslas CanariasSpain Departamento de Biotecnología Instituto de Investigacion y Ciencias de Puerto del RosarioFuerteventuraIslas CanariasSpain

It has been reported that spontaneously hypertensive rats (SHR) show ventricular dilation, changes in CSF proteins and variations in the circumventricular organs (CVO) such as: the subcommissural organ (SCO), the subfornical organ (SFO) and the area postrema (AP) which are located in the walls of the third and fourth ventricles. On the other hand, p73 proteins are present in cells of the central nervous system (CNS) such as circumventricular structures and the neuroepithelium which are altered in ventricular dilation. The purpose of the present work is to study the TAp73 isoform expression in the circumventricular organs (CVO) and their variations in ventricular dilatation and arterial hypertension. Brains and cerebrospinal fluid (CSF) from control Wistar-Kyoto rats (WKy) and SHR were used. The paraffin sections containing the CVO were immunohistochemically proc-essed with anti-TAp73 and by western blot, p73 bands in the CSF and circumventricular organ extract were also identified. The western blot study showed bands marked with p73 in the CSF and CVO, the p73 band expression was bigger in the SHR than in the WKy rats. We also found stronger markings in the SFO, SCO and AP of the hypertensive rats than in the WKy rats. It could be concluded that hypertension in the SHR produces altera-tions in the relationship between the p73 protein, circumventricular structures and CSF.

关键词： Circumventricular Organs p73 CSF Hypertensive Rats

Risk perception and knowledge of COVID-19 in patients with celiac disease

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World j.urnal of Gastroenterology 2021年第12期27卷 1213-1225页

作者： j.mie Zhen juan Pablo Stefanolo María de la paz Temprano Caroline L Seiler Alberto Caminero Enrique de-Madaria Miguel Montoro Huguet Vivas Santiago Sonia Isabel Niveloni Edgardo Gustavo Smecuol Luis Uzcanga Dominguez Elena Trucco Virginia Lopez Carolina Olano Pasquale Mansueto Antonio Carroccio Peter H Green Donald Duerksen Andrew S Day j.son A Tye-Din j.lio César Bai Carolina Ciacci Elena F Verdú Benj.min Lebwohl M Ines Pinto-Sanchez Department of Medicine Farncombe Family Digestive Health Research InstituteMcMaster University Medical CenterHamilton Health SciencesHamilton L8S4K1ONCanada Department of Medicine Dr.C.Bonorino Udaondo Gastroenterology HospitalBuenos Aires 1264Argentina Department of Pancreatic Unit Hospital General Universitario de AlicanteAlicante 03010Spain Department of Medicine Instituto Aragonés de Ciencias de la Salud(IACS)Zaragoza 50009Spain Department of Medicine Hospital Universitario San Jorge.HuescaZaragoza 50004Spain Department of Gastroenterology Univ Hosp LeonGastroenterol UnitAltos de Nava S-NLeon 24071Spain Department of Medicine Instituto Nacional de Ciencias Médicas y Nutrición Salvador ZubiránMexico DF 14080Mexico Department of Medicine Universidad de la RepublicMontevideo 11800Uruguay Department of Internal Medicine PROMISE DepartmentUniversity of PalermoPalermo 90127Italy Department of Internal Medicine V.Cervello HospitalPROMISE DepartmentUniversity of PalermoPalermo 90127Italy Celiac Disease Center Columbia University Medical CenterColumbia UnivCeliac Dis CtrDiv Digest and Liver DisNew YorkNY 10032United States Department of Medicine St Boniface Gen HospUniversity of ManitobaWinnipeg R2H 2A6Canada Department of Paediatrics University of Otago ChristchurchChristchurch 8041New Zealand Department of Gastroenterology Royal Melbourne HospitalImmunology DivisionWalter and Eliza Hall InstituteMelbourne 3052Australia Department of Medicine Surgery and DentryScuola Medica SalernitanaUniversity of SalernoCeliac Center at the University Hospital San Giovanni di Dio e Ruggi di AragonaSalerno 84131Italy Department of Medicine Farncombe Family Digestive Research InstituteMcMaster UniversityHamilton L8S4K1ONCanada The Celiac Disease Center Columbia UniversityNew YorkNY 10032United States

BACKGROUND We recently demonstrated that the odds of contracting coronavirus disease 2019(COVID-19)in patients with celiac disease(CeD)is similar to that of the general ***,how patients with CeD perceive their COVID-19 risk may differ from their actual *** To investigate risk perceptions of contracting COVID-19 in patients with CeD and determine the factors that may influence their *** We distributed a survey throughout 10 countries between March and j.ne 2020 and collected data on demographics,diet,COVID-19 testing,and risk perceptions of COVID-19 in patients with *** were recruited through various celiac associations,clinic visits,and social *** perception was assessed by asking individuals whether they believe patients with CeD are at an increased risk of contracting COVID-19 when compared to the general *** regression was used to determine the influencing factors associated with COVID-19 risk perception,such as age,sex,adherence to a gluten-free diet(GFD),and comorbidities such as cardiac conditions,respiratory conditions,and *** was presented as adj.sted odds ratios(aORs)RESULTS A total of 10737 participants with CeD completed the *** them,6019(56.1%)patients with CeD perceived they were at a higher risk or were unsure if they were at a higher risk of contracting COVID-19 compared to the non-CeD population.A greater proportion of patients with CeD perceived an increased risk of contracting COVID-19 when compared to infections in general due to their CeD(56.1%vs 26.7%,Py,34.8%reported taking extra COVID-19 precautions as a result of their *** of celiac associations were less likely to perceive an increased risk of COVID-19 when compared to non-members(49.5%vs 57.4%,P<0.0001).Older age(aOR:0.99;95%CI:0.99 to 0.99,P<0.001),male sex(aOR:0.84;95%CI:0.76 to 0.93,P=0.001),and strict adherence to a GFD(aOR:0.89;95%CI:0.82 to 0.96,P=0.007)were associated

关键词： Celiac disease Gluten Risk Infection Knowledge Perception Coronavirus COVID-19

High Blood Pressure Effects on the Brain Barriers and Choroid Plexus Secretion

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Neuroscience & Medicine 2012年第1期3卷 60-64页

作者： Ibrahim González-Marrero Leandro Castaneyra-Ruiz juan M.González-Toledo Agustín Castaneyra-Ruiz Héctor de paz-Carmona Lidia Ruiz-Mayor Agustín Castaneyra-Perdomo Emilia M.Carmona-Calero Departamento de Anatomía Facultad de MedicinaUniversidad de La LagunaTenerifeSpain Departamento de Biotecnología Instituto de Investigación y Ciencias de Puerto del RosarioFuerteventuraSpain

High blood pressure produces ventricular dilation, variations in circumventricular organs and changes in the cerebrospinal fluid compositions. On the other hand, chronic hypertension in spontaneously hypertensive rats can cause changes in the integrity of the brain barriers: blood-cerebrospinal fluid barrier and blood brain barrier. The permeability of the brain barriers can be studied by using transthyretin and S-100β. In the present work we study the integrity of the brain barrier and the choroid plexus function variations in arterial hypertension. Control rats and spontaneously hypertensive rats were used and the choroid plexus were processed by immunohistochemistry with anti-transthyretin and anti-vasopressin. Western blot was also performed in cerebrospinal fluid, serum and choroid plexus using anti-S-100β, anti-transthyretin. The accumulation of transthyretin immunoreactive was bigger in spontaneously hypertensive rats with respect to the control. Vasopressin was also higher in spontaneously hypertensive rats with respect to the control. Western blot showed that transthyretin tetramer was higher in the spontaneously hypertensive rats than in the control rats. The expression of transthyretin monomer was lower in hypertensive rats than the control in the cerebrospinal fluid, the transthyretin monomer reaction in the blood was stronger in hypertensive than in control rats. Western blot for the S-100 β showed an increase in blood and cerebrospinal fluid of hypertensive rats. The high blood pressure produces a disruption of the blood brain barrier and blood to cerebrospinal fluid barrier that allows extravasations from the cerebrospinal fluid to the blood and from the blood to the cerebrospinal fluid.

关键词： Brain Barriers Choroid Plexus Arterial Hypertension