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Comprehensive analysis of HFE gene in hereditary hemochromatosis and in diseases associated with acquired iron overload

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World Journal of Hepatology 2019年第2期11卷 186-198页

作者： Wagner Narciso de Campos Juliana Doblas Massaro Eduardo Luiz Rachid Can?ado Cláudia Emília Vieira Wiezel Aguinaldo Luiz Sim?es Andreza Correa Teixeira Fernanda Fernandes de Souza Celso Teixeira Mendes-Junior ana de lourdes candolo martinelli Eduardo Ant?nio Donadi Division of Clinical Immunology Department of MedicineRibeir?o Preto Medical SchoolUniversity of S?o Paulo department of Gastroenterology Clinical Gastroenterology and Clinical Hepatology of Clinical HospitalUniversity of S?o Paulo School of Medicine department of Genetics Ribeir?o Preto Medical SchoolUniversity of S?o Paulo Division of Gastroenterology Department of MedicineRibeir?o Preto Medical SchoolUniversity of S?o Paulo departamento de Química Laboratório de Pesquisas Forenses e Gen?micasFaculdade de FilosofiaCiências e Letras de Ribeir?o PretoUniversidade de S?o Paulo

BACKGROUND Patients with hepatitis C virus(HCV) and hepatocellular carcinoma(HCC) may or not develop iron overload(IO),which is associated with worst prognosis,because can cause serious damage to *** gene controls the iron uptake from gut,particularly in patients with hereditary hemochromatosis(HH).AIM To identify associations between HFE coding region in patients exhibiting hereditary hemochromatosis and in diseases associated with acquired *** We sequenced exons 2 to 5 and boundary introns of HFE gene,evaluating all polymorphic sites in patients presenting hereditary(hemochromatosis) or acquired iron overload HCV and HCC) and in healthy controls,using Sanger *** also determined the ensemble of extended haplotype in healthy control individuals,including several major histocompatibility complex loci,using sequence specific *** reconstruction was performed using the Arlequin and Phase softwares,and linkage disequilibrium(LD) between histocompatibility loci and HFE gene was performed using the Haploview *** The HFE*003 allele was overrepresented(f = 71%) and HFE*001 allele was underrepresented(f = 14%) in HH patients compared to all groups.A strong linkage disequilibrium was observed among the H63 D-G,IVS2(+4)-C and C282 YG gene variants,particularly in HH;however,the mutation IVS2(+4)T>C was not directly associated with HH *** HFE*001/HFE*002 genotype conferred susceptibility to HCC in HCV patients exhibiting IO(P = 0.02,OR =14.14).Although HFE is telomeric to other histocompatibility genes,the H63 DG/IVS2(+4)-C(P ≤ 0.00001/P ≤ 0.0057) combination was in LD with HLA-B*44 allele group in healthy *** LD was observed between HFE alleles and other major histocompatibility *** A differential HFE association was observed for HH and for diseases associated with acquired IO(HCV,HCC).Since HFE is very distant from other histocompatibility loci,only weak associations were observed with these a

关键词： HFE gene Hepatocellular carcinoma Hepatitis C Hemochromatosis hereditary Alleles Haplotypes

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The dorsal root ganglion as a target for neurorestoration in neuropathic pain

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Neural Regeneration Research 2024年第2期19卷 296-301页

作者： Guillermo Estivill-Torrús ana Belen Martínez-Padilla lourdes Sánchez-Salido Anne Baron-Van Evercooren Beatriz García-Díaz Instituto de Investigación Biomédica de Málaga y Plataforma en Nanomedicina(IBIMA Plataforma BIONAND) MálagaSpain Unidad Clínica de Neurociencias Hospital Regional Universitario de MálagaMálagaSpain departamento de Biología Molecular y Bioquímica Universidad de MálagaSpain Sorbonne Université Institut du Cerveau-Paris Brain Institute-ICMINSERMCNRSAP-HPHôpital Pitié-SalpêtrièreParisFrance

Neuropathic pain is a severe and chronic condition widely found in the general *** reason for this is the extensive variety of damage or diseases that can spark this unpleasant constant feeling in *** the processing of pain,the dorsal root ganglia constitute an important region where dorsal root ganglion neurons play a crucial role in the transmission and propagation of sensory electrical ***,the dorsal root ganglia have recently exhibited a regenerative capacity that should not be neglected in the understanding of the development and resolution of neuropathic pain and in the elucidation of innovative ***,we will review the complex interplay between cells(satellite glial cells and inflammatory cells)and factors(cytokines,neurotrophic factors and genetic factors)that takes place within the dorsal root ganglia and accounts for the generation of the aberrant excitation of primary sensory neurons occurring in neuropathic *** importantly,we will summarize an updated view of the current pharmacologic and nonpharmacologic therapies targeting the dorsal root ganglia for the treatment of neuropathic pain.

关键词： cytokines dorsal root ganglia genetic factors neuropathic pain neurotrophic factors pharmacologic and nonpharmacologic therapies satellite glial cells sensory neurons

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Influence of CFH,HTRA1 and ARMS2 polymorphisms in the response to intravitreal ranibizumab treatment for wet age-related macular degeneration in a Spanish population

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International Journal of Ophthalmology(English edition) 2016年第9期9卷 1304-1309页

作者： Fernando Cruz-Gonzalez Lucia Cabrillo-Estevez Vanesa Rivero-Gutierrez ana Sanchez-Jara lourdes de Juan-Marcos Rogelio Gonzalez-Sarmiento department of Ophthalmology Hospital Universitario Salamanca

AIM：To determine whether gene polymorphisms of the major genetic risk loci for age-related macular degeneration（AMD）：ARMS2（rs10490923）,the complement factor H（CFH）（rs1410996） and HTRA1（rs11200638） influence the response to a treatment regimen with ranibizumab for exudative ***：This study included 100 patients（100 eyes）with exudative *** underwent a treatment with ranibizumab injections monthly during three *** were made when the best corrected visual acuity（BCVA） decrease five letters（ETDRS） or central subfield retinal thickness gained 100 pm in optical coherence tomography ***（rs10490923,rs1410996 and rs11200638） were analyzed using TaqMan probes or polymerase chain reaction-restricted fragment length polymorphisms ***：There were no statistically significant differences in allelic distribution of CFH（rs1410996）,ARMS2（rs10490923） and HTRA1（rs11200638）polymorphisms regarding to response to ranibizumab ***：Ranibizumab treatment response is not related to CFH（rs1410996）,ARMS2（rs10490923） and HTRA1（rs11200638） poymorphisms.

关键词： age-related macular degeneration polymorphisms ARMS2 HTRA1 complement factor H ranibizumab

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Antenatal use of bosentan and/or sildenafil attenuates pulmonary features in rats with congenital diaphragmatic hernia

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World Journal of Pediatrics 2014年第4期10卷 354-359页

作者： María de lourdes Lemus-Varela Amed Soliz Belinda Claudia Gómez-Meda ana lourdes Zamora-Perez José Manuel Ornelas-Aguirre Valery Melnikov Blanca Miriam Torres-Mendoza Guillermo Moisés Zúñiga-González Division of Neonatology High Specialty Medical UnitPediatric HospitalWestern National Medical CenterMexican Social Security InstituteGuadalajaraJaliscoMéxico Neonatal Intensive Care Unit Division of NeonatologyMiami Children's HospitalMiami FLDUSA Molecular Biology in Medicine Institute Molecular Biology and Genomic DepartmentHealth Sciences University CenterUniversity of GuadalajaraGuadalajaraJaliscoMéxico Odontology Research Institute Integrated Odontology Clinic DepartmentHealth Sciences University CenterUniversity of GuadalajaraGuadalajaraJaliscoMéxico Pathology department High Specialty Medical UnitNorth-western National Medical CenterMexican Social Security InstituteCiudad ObregónSonoraMéxico School of Medicine University of ColimaColimaMéxico Division of Neurosciences Western Biomedical Research CenterMexican Social Security Institute and Department of ClinicsHealth Sciences University CenterUniversity of GuadalajaraGuadalajaraJaliscoMéxico Mutagenesis Laboratory Western Biomedical Research CenterMexican Social Security InstituteGuadalajaraJaliscoMéxico

Background:Lung hypoplasia,pulmonary persistent hypertension of the newborn and its morphological changes are the main features in congenital diaphragmatic hernia(CDH).This study was undertaken to investigate if antenatal use of sildenafil and/or bosentan attenuates vascular remodeling,promotes branching,and improves alveolarization in experimental nitrofeninduced ***:Nitrofen(100 mg)was gavage-fed to pregnant rats at post conception day(PCD)9 to induce *** rats were randomized to 5 groups:1)control;2)nitrofen;3)nitrofen+sildenafil 100 mg/kg per day at PCD 16-20;4)nitrofen+bosentan 30 mg/kg per day,at PCD 16-20,and 5)nitrofen+bosentan+sildenafil,same doses and administration *** cesarean delivery,the offsprings were sacrifi *** diaphragmatic defect and pulmonary hypoplasia were identified,and the lungs were *** wall thickness,bronchiolar density and alveolarization were ***:The offsprings with CDH were characterized by severe pulmonary hypoplasia(lung weight-to-body weight ratio:0.0263[95%confidence interval(CI)0.0242-0.0278)]in the nitrofen group versus 0.0385(95%CI 0.0355-0.0424)in the control group(P=0.0001).Pulmonary arterial wall thickness was decreased to 3.0(95%CI 2.8-3.7)μm in the nitrofen+sildenafil group versus 5.0(95%CI 4.1-4.9)μm in the nitrofen group(P=0.02).Terminal bronchioles increased to 13.7(95%CI 10.7-15.2)μm in the nitrofen+bosentan group in contrast to 8.7(95%CI 7.2-9.4)μm in the nitrofen group(P=0.002).More significant differences(P=0.0001)were seen in terminal bronchioles in the nitrofen+sildenafil+bosentan group than in the nitrofen group[14.0(95%CI 12.5-15.4)μm versus 8.5(95%CI 7.1-9.3)μm].Pulmonary arterial wall thickness was also decreased in the former ***:In this rat model,antenatal treatment with sildenafil attenuates vascular *** promotes the development of terminal bronchioles in nitrofen-induced CDH.

关键词： antenatal treatment bosentan congenital diaphragmatic hernia pulmonary hypoplasia sildenafil

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End-of-life care in a cardiology department： have we improved？

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Journal of Geriatric Cardiology 2016年第7期13卷 587-592页

作者： Juan Rulz-Garcia Pablo Dlez-Villanueva ana Ayesta Vanessa Brufia lourdes M Figueiras-Graillet Laura Gallego-Parra Francisco Fernandez-Aviles Manuel Martinez-Selles department of Cardiology Hospital General Universitario Gregorio Maranon Calle Doctor Esquerdo Madrid Spain department of Cardiology Hospital Universitario de Torrejon Calle Mateo Inurria Torrejon de Ardoz Madrid Spain Universidad Francisco de Vitoria Carretera Pozuelo a Majadahonda Pozuelo de Alareon Madrid Spain department of Cardiology Hospital Universitario de la Princesa Calle de Diego de Leon Madrid Spain departmet of Cardiology Hospital Universitario del Sureste Ronda del Sur Arganda del Rey Madrid Spain Universidad Complutense de Madrid Av. Seneca Madrid Spain Universidad Europea de Madrid Urbanizacion E1Bosque Calle Tajo Villaviciosa de Odon Madrid Spain

Background End-of-life care is not usually a priority in cardiology departments. We sought to evaluate the changes in end-of-life care after the introduction of a do-not-resuscitate （DNR） order protocol. Methods ＆ Results Retrospective analysis of all deaths in a cardiology department in two periods, before and after the introduction of the protocol. Comparison of demographic characteristics, use of DNR orders, and end-of-life care issues between both periods, according to the presence in the second period of the new DNR sheet （Group A）, a conven- tional DNR order （Group B） or the absence of any DNR order （Group C）. The number of deaths was similar in both periods （n = 198 vs. n = 197）. The rate of patients dying with a DNR order increased significantly （57.1% vs. 68.5%; P = 0.02）. Only 4% of patients in both periods were aware of the decision taken about cardiopulmonary resuscitation. Patients in Group A received the DNR order one day earlier, and 24.5% received it within the first 24 h of admission （vs. 2.6% in the first period; P 〈 0.001）. All patients in Group A with an implantable cardioverter defibrillator （ICD） had shock therapies deactivated （vs. 25.0% in the first period; P = 0.02）. Conclusions The introduction of a DNR order protocol may improve end-of-life care in cardiac patients by increasing the use and shortening the time of registration of DNR orders. It may also contribute to increase ICD deactivation in patients with these orders in place. However, the introduction of the sheet in late stages of the disease failed to improve patient participation.

关键词： Cardiology Cardiopulmonary resuscitation End-of-life Palliative care

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Exploratory study on microRNA profiles from plasma-derived extracellular vesicles in Alzheimer’s disease and dementia with Lewy bodies

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Translational Neurodegeneration 2019年第1期8卷 382-398页

作者： ana Gámez-Valero Jaume Campdelacreu Dolores Vilas lourdes Ispierto Ramón Reñé RamiroÁlvarez MPilar Armengol Francesc E.Borràs Katrin Beyer department of Pathology Health Sciences Research Institute Germans Trias i Pujol(IGTP)Universitat Autònoma de BarcelonaBadalona 08916Spain REMAR-IVECAT group Health Sciences Research Institute Germans Trias i Pujol(IGTP)08916 BadalonaSpain department of Neurology Hospital Universitari de BellvitgeL’Hospitalet de Llobregat 08907Spain department of Neurology Hospital Universitari Germans Trias i Pujol08916 BadalonaSpain Genomic and Microscopy facilities Health Sciences Research Institute Germans Trias i Pujol(IGTP)08916 BadalonaSpain department of Cell Biology Physiology and ImmunologyUniversitat Autònoma de Barcelona(UAB)BarcelonaSpain

Background:Because of the increasing life expectancy in our society,aging-related neurodegenerative disorders are one of the main issues in global *** of these diseases are characterized by the deposition of misfolded proteins and a progressive cognitive *** these diseases,Alzheimer’s disease(AD)and dementia with Lewy bodies(DLB)are the most common types of degenerative *** both show specific features,an important neuropathological and clinical overlap between them hampers their correct *** this work,we identified molecular biomarkers aiming to improve the misdiagnosis between both ***:Plasma extracellular vesicles(EVs)-from DLB,AD and healthy controls-were isolated using size-exclusion chromatography(SEC)and characterized by flow cytometry,Nanoparticle Tracking analysis(NTA)and cryo-electron *** Generation Sequencing(NGS)and related bibliographic search was performed and a selected group of EV-associated microRNAs(miRNAs)was analysed by ***:Results uncovered two miRNAs(hsa-miR-451a and hsa-miR-21-5p)significantly down-regulated in AD samples respect to DLB patients,and a set of four miRNAs(hsa-miR-23a-3p,hsa-miR-126-3p,hsa-let-7i-5p,and hsamiR-151a-3p)significantly decreased in AD respect to *** two miRNAs showing decreased expression in AD in comparison to DLB provided area under the curve(AUC)values of 0.9 in ROC curve analysis,thus suggesting their possible use as biomarkers to discriminate between both *** gene analysis of these miRNAs using prediction online tools showed accumulation of phosphorylation enzymes,presence of proteasome-related proteins and genes involved in cell death among ***:Our data suggest that plasma-EV associated miRNAs may reflect a differential profile for a given dementia-related disorder which,once validated in larger cohorts of patients,could help to improve the differential diagnosis of DLB versus AD.

关键词： Neurodegenerative disorders Biomarker Exosomes Next generation sequencing Extracellular vesicles

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Chronic Stress and Its Symptoms among Mexican Immigrants in Edmonton, Canada

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Journal of Behavioral and Brain Science 2016年第8期6卷 295-304页

作者： Elizabeth Pozos-Radillo lourdes Preciado-Serrano ana Plascencia-Campos Luis Zaragoza-Perales University Center for Health Sciences at the University of Guadalajara Guadalajara México

Immigration-related stress is the result of an environment that imposes demands surpassing the psychological resources of those suffering from it with a destabilizing effect on their physical and psychological health. The purpose of this study is to determine what the chronic stress levels are and their association with psychophysiological symptoms and gender in Mexican immigrants living in Edmonton, Canada. A representative random sample was made of 237 immigrants in 2012. The stress symptoms inventory was used and a multiple regression and multivariate analysis was made. Results indicated that chronic stress levels were: 14% high, 46% medium and 40% low and psychophysiological predictor symptoms were: fatigue, constipation, frequent colds, cold hands and feet and insomnia, and the female gender. Therefore one may conclude that a precise identification of the predictor symptoms of chronic stress may help promote and implement programs aimed at timely prevention of stress before they affect the health and occupational safety of Mexican immigrants living in Edmonton, Canada.

关键词： Emigrants and Immigrants Psychological Stress Mexico Canada

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Calcium Oxalate and Other Cladode Features in Opuntia ficus-indica Resistant Cultivars to Dactylopius coccus Costa

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Journal of Agricultural Chemistry and Environment 2023年第2期12卷 112-123页

作者： Yemane Kahsay Berhe Liberato Portillo lourdes delgado-Aceves Hilda Palacios-Juárez ana Lilia Vigueras department of Horticulture and Beles Institute Adigrat University Tigray Ethiopia departamento de Botánica y Zoología CUCBA-Universidad de Guadalajara Zapopan Mexico departamento de Madera Celulosa y Papel CUCEI-Universidad de Guadalajara Zapopan Mexico

Multipurpose cactus pear plant with great potential as a source of food and livestock faced a threat from Dactylopius spp in different countries. Specifically, D. coccus is an important pest damaging significant areas in Tigray-Ethiopia. Using pest-resistant cultivars is an important element of an integrated pest management strategy, and studying the mechanisms of resistance is vital. It can be chemical or physical such as oxalate crystals and other cladode characteristics. Cladode features of six cultivars (three O. ficus-indica, two O. cochenillifera, and one O. robusta) were examined for resistance to D. coccus in a completely randomized design (CRD) with three replications. ‘Rojo Pelón’ (O. ficus-indica), ‘Robusta’ (O. robusta), and ‘Bioplástico’ (O. cochenillifera) are resistant cultivars;and ‘Atlixco’ and ‘Chicomostoc’ (O. ficus-indica) and ‘Nopalea’ (O. cochenillifera) are susceptible. Cultivars showed a significant difference in cladode weight in g, and cladode length, cladode width, and cladode thickness in cm, where cladode thickness was higher in ‘Rojo Pelón’ followed by ‘Robusta’. Calcium oxalates number per mm was higher in ‘Bioplástico’ (20.7 ± 2.08) followed by ‘Robusta’ (18.9 ± 2.31) and ‘Rojo Pelón’ (15.9 ± 0.34);and similarly, epidermis thickness found higher in ‘Bioplástico’ (0.21 ± 0.032) and ‘Robusta’ (0.19 ± 0.014), but similar with ‘Rojo Pelón’ (0.18 ± 0.026). However, cuticle thickness didn’t show a difference among cultivars. Cladode thickness, calcium oxalate number, and epidermis thickness had positive correlations with resistance. These results demonstrate that calcium oxalate number and epidermis thickness might have a positive role in D. coccus resistance in O. ficus-indica. This feeding-barring role and the insect-plant interaction need to be studied.

关键词： Cactus Pear Resistance Druses Epidermis Thickness

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The Ways of Thinking in a Sample of the Student Community of the Subjects of Structured Programming and Numerical Methods in Engineering of the UAM-Azcapotzalco within the Emerging Remote Teaching Project (PEER)

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International Journal of Intelligence Science 2022年第3期12卷 39-56页

作者： lourdes Sánchez-Guerrero ana Lilia Laureano-Cruces Martha Mora-Torres Javier Ramírez-Rodríguez departamento de Sistemas Universidad Autónoma Metropolitana-Azcapotzalco Mexico City Mexico Posgrado en Dise&ntilde o y Visualización de la Información Universidad Autónoma Metropolitana-Azcapotzalco Mexico City Mexico

Due to the pandemic that is currently being experienced worldwide, educational institutions (HEIs) have had to reinvent and innovate the mode of teaching, in order to continue the process of training students at all educational levels. Higher education has not been immune to this situation, the institutions of this educational level face various challenges in remote teaching: one of them, perhaps the most important, was to answer the question: How to get the student to continue their undergraduate studies remotely? In this sense, it was necessary, on the part of the students and the teachers, a preparation to go from the face-to-face to the virtual mode. This paper addresses the specific case of the analysis of the teaching-learning process of the Teaching-Learning Unit (UEA for its acronym in Spanish) of Structured Programming and Numerical Methods for Engineering at the undergraduate level, at the Universidad Autónoma Metropolitana, Unidad Azcapotzalco (UAM-A) and its relation to the student’s way of thinking. Likewise, the analysis will be carried out if the way of thinking of the students of the sample influences their academic performance when studying the subject of Structured Programming and Numerical Methods for Engineering.

关键词： Intelligent Teaching Systems Emerging Remote Teaching Project (PEER) Way of Thinking Cognition Motivation and the Locus of Control

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Intelligent Interfaces: Pedagogical Agents and Virtual Humans

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International Journal of Intelligence Science 2022年第3期12卷 57-78页

作者： ana Lilia Laureano-Cruces lourdes Sánchez-Guerrero Javier Ramírez-Rodríguez Emiliano Ramírez-Laureano departamento de Sistemas Universidad Autónoma Metropolitana Mexico City México Posgrado en Dise&ntilde o y Visualización de la Información Universidad Autónoma Metropolitana Mexico City México ESCENA Escuela de Animación y Arte Digital Mexico City México

Little by little, we are entering the new era, intelligent interfaces are absorbing us more and more every day, and artificial intelligence makes its presence in a stealthy way. Virtual humans that represent an evolution of autonomous virtual agents;they are computer programs and in the future capable of carrying out different activities in certain environments. They will give the illusion of being human;they will have a body, and they will be immersed in an environment. They will have a set of senses that will allow them: 1) Sensations and therefore associated expressions;2) Communication;3) Learning;4) Remembering events, among others. By integrating the above, they will have a personality and autonomy, so they will be able to plan with respect to objectives;allowing them to decide and take actions with their body, in other words, they will count on awareness. The applications will be focused on environments that they will inhabit, or as interfaces that will interact with other systems. The application domains will be multiple;one of them being education. This article shows the design of OANNA like an avatar with the role of pedagogical agent. It was modeled as an affective-cognitive structure related to the teaching-learning process linked to a pedagogical agent that represents the interface of an artilect. OANNA, has the necessary animations for intervention within the teaching-learning process.

关键词： Intelligent Interfaces Expert Systems Applied to Education Autonomous Virtual Agents Pedagogical Agents Avatar Virtual Humans Operational Strategies Cognitive Strategies Affective-Cognitive Structure

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