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Presence of c.3956del C mutation in familial adenomatous polyposis patients from Brazil

World Journal of Gastroenterology 2015年第31期21卷 9413-9419页

作者： Caroline Aquino Moreira-Nunes Diego di Felipe ávila Alcantara Sérgio Figueiredo Lima-Júnior Sandro Roberto de Araújo Cavalléro Juan antonio rey Giovanny Reboucas Pinto Paulo Pimentel de Assumpcao Rommel Rodriguez Burbano Biological Science Institute Federal University of Pará Nucleus of Research in Oncology Federal University of Pará Molecular Neuro-oncogenetics Laboratory Research Unit-Unidad de InvestigaciónHospital Universitario La Paz Genetics and Molecular Biology Laboratory Federal University of Piaui

AIM: To characterize APC gene mutations and correlate them with patient phenotypes in individuals diagnosed with familial adenomatous polyposis(FAP) in northern Brazil. METHODS: A total of 15 individuals diagnosed with FAP from 5 different families from the north of Brazil were analyzed in this study. In addition to patients with histopathological diagnosis of FAP,family members who had not developed the disease were also tested in order to identify mutations and for possible genetic counseling. All analyzed patients or their guardians signed a consent form approved by the Research Ethics Committee of the Jo?o de Barros Barreto University Hospital(Belem,Brazil). DNA extracted from the peripheral blood of a member of each of the affected families was subjected to direct sequencing. The proband of each family was sequenced to identify germline mutations using the Ion Torrent platform. To validate the detected mutations,Sanger sequencing was also performed. The samples from all patients were also tested for the identification of mutations by real-time quantitative polymerase chain reaction using the amplification refractory mutation system. RESULTS: Through interviews with relatives and a search of medical records,it was possible to construct genograms for three of the five families included in the study. All 15 patients from the five families with FAP exhibited mutations in the APC gene,and all mutations were detected in exon 15 of the APC gene. In addition to the patients with a histological diagnosis of FAP,family members without disease symptoms showed the mutation in the APC gene. In the present study,we detected two of the three most frequent germline mutations in the literature: the mutation at codon 1309 and the mutation at codon 1061. The presence of c.3956 del C mutation was found in all families from this study,and suggests that this mutation was introduced in the population of the State of Pará through ancestor immigration(i.e.,a de novo mutation that arose

关键词： Familial adenomatous polyposis APC Torrent sequencing Colorectal cancer

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Quality-adjusted life years and surgical waiting list:Systematic review of the literature

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World Journal of Gastrointestinal Surgery 2024年第4期16卷 1155-1164页

作者： Roberto de la Plaza Llamas Lorena Ortega Azor Marina Hernández Yuste Ludovica Gorini Raquel Aránzazu Latorre-Fragua Daniel Alejandro Díaz Candelas Farah Al Shwely Abduljabar Ignacio antonio Gemio del rey Department of General and Digestive Surgery Hospital Universitario de GuadalajaraGuadalajara 19002Spain Department of Surgery Medical and Social SciencesFaculty of Medicine and Health SciencesUniversity of AlcaláAlcaláde Henares 28871MadridSpain

BACKGROUND The quality-adjusted life year(QALY)is a metric that is increasingly used today in the field of health economics to evaluate the value of different medical treatments and *** waiting lists(SWLs)represent a pressing problem in public *** QALY measure has rarely been used in the context of *** would be interesting to know how many QALYs are lost by patients on *** To investigate the relationship between QALYs and SWLs in a systematic review of the scientific *** The study was conducted in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses *** unlimited search was carried out in PubMed,updated on January 19,*** on the following variables were investigated and analyzed:Specialty,country of study,procedure under study,scale used to measure QALYs,the use of a theoretical or real-life model,objectives of the study and items measured,the economic value assigned to the QALY in the country in question,and the results and conclusions *** Forty-eight articles were selected for the *** data were found regarding QALYs lost on *** specialties in which QALYs were studied the most in relation to the waiting list were urology and general surgery,with 15 articles *** country in which the most studies of QALYs were carried out was the United States(n=21),followed by the United Kingdom(n=9)and Canada(n=7).The most studied procedure was organ transplantation(n=39),including 15 kidney,14 liver,5 heart,4 lung,and 1 ***(n=4),cataract surgery(n=2),bariatric surgery(n=1),mosaicplasty(n=1),and septoplasty(n=1)completed the surgical interventions ***-nine of the models used were theoretical(the most frequently applied being the Markov model,n=34),and nine were *** survey used to measure quality of life in 11 articles was the European Quality of Life-5 dimensions,but in 32 articles the survey was not specified.T

关键词： Quality-adjusted life year Waitlist Quality of life Surgery Systematic review

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Surgical Excision of Ischiorectal Fossa Tumors

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Surgical Science 2016年第10期7卷 461-465页

作者： Javier Die Trill Juan Carlos García Irene Moreno Juan Diego Pina Estela Tobaruela Jose Barquin Juan Ocaña antonio rey Department of Surgery Hospital Ramón y Cajal Madrid Spain

Background: Ischiorectal Fossa Tumors are rare and their management has not been protocolized. Patients: We retrospectively review four consecutive cases treated in our department, from January 2015 to July 2015. All of them were discussed in a multidisciplinary team meeting. None of them were secondary to an inflammatory process. Results: A Magnetic Resonance Imaging was performed in all the four patients, and as it was not a malignant diagnosis made in any of them, we proceeded to resecate the lesions. None biopsies were performed and the benign diagnoses were confirmed by the pathologist. All the patients underwent a local posterior or perineal approach, because all the lesions (epidermoid cyst, hamartoma, lipoma and an aggressive angiomyxoma) were localized purely in the ischiorectal fossa, under the levator ani muscle and not invading any adjacent structures. In all of them, an R0 resection was performed. Conclusions: Ischiorectal fossa tumors are rare and there are few cases already published. Non-inflammatory lesions located in the ischiorectal fossa, with none invasion of rectum or levator ani muscle, are mainly benign lesions prone to their complete excision by a posterior approach. Biopsy is not always necessary unless there’s a suspicion of a malignancy or invasion of adjacent structures, and only in that case a biopsy should be made, because in some of them, a neo-adjuvant treatment can be useful to reduce the tumor and to perform an R0 resection.

关键词： Ischiorectal Fossa Tumors Aggressive Angiomyxoma

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Automorphism Groups of Pseudo-real Riemann Surfaces of Low Genus

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Acta Mathematica Sinica,English Series 2014年第1期30卷 11-22页

作者： Emilio BUJALANCE antonio F.COSTA Departamento de Matemáticas Fundamentales Facultad de CienciasUNEDSenda del rey928040 MadridSpain

A pseudo-real Riemann surface admits anticonformal automorphisms but no anticonformal *** obtain the classifcation of actions and groups of automorphisms of pseudo-real Riemann surfaces of genera 2,3 and *** instance the automorphism group of a pseudo-real Riemann surface of genus 4 is eitherC4orC8or the Fro¨benius group of order 20,and in the case ofC4there are exactly two possible topological *** MK P R,g be the set of surfaces in the moduli space MK g corresponding to pseudo-real Riemann *** obtain the equisymmetric stratifcation of MK P R,g for generag=2,3,4,and as a consequence we have that MK P R,gis connected forg=2,3 but MK P R,4has three connected components.

关键词： Riemann surface automorphism anticonformal automorphism moduli space

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Robust hybrid bismuth perovskites as potential photocatalysts for overall water splitting

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Nano Research 2024年第5期17卷 4593-4601页

作者： antonio J.Chacón-García Herme G.Baldovi Artem A.Babaryk antonio Rodríguez-Diéguez Sergio Navalón Yolanda Pérez Hermenegildo García Patricia Horcajada Advanced Porous Materials Unit IMDEA Energy InstituteAvda.Ramón y Cajal 328935 MóstolesMadridSpain Departamento de Química Universitat Politècnica de València46022 ValènciaSpain Departamento Química Inorgánica Universidad de Granada1807GranadaSpain Departamento de Biología y Geología Física y Química Inorgánica.ESCET.Universidad Rey Juan Carlos28933 MóstolesMadridSpain Instituto de tecnología química CSIC-UPV Universitat Politècnica de València(UPV)46022Spain

Organic-inorganic hybrid perovskites have gained great attention as promising photocatalysts for hydrogen ***,due to their poor stability in water,the use of aqueous hydrohalic acid solutions is specifically required for an efficient hydrogen ***,three novel photoactive lead-free hybrid perovskites based on bismuth and triazolium cations(denoted as IEF-15,IEF-16,and IEF-17(IEF stands for IMDEA energy frameworks))were synthesized and fully characterized(structural,compositional,optical,etc.).Further,these solids were proposed as photocatalysts for the challenging gas phase overall water splitting(OWS)***,IEF-16 thin films exhibited a remarkable photocatalytic activity in both H_(2) and O_(2) evolution,as a consequence of its appropriate bandgap and energy-band alignment,achieving hydrogen evolution rates ofμmol·g_(H_(2))^(-)1846 and 360 after 24 h under ultraviolet-visible(UV-vis)irradiation or simulated solar irradiation,*** study additionally highlights the remarkable structural and photochemical stability of IEF-16 under different operational conditions(*** volume,irradiation and temperature),paving the way for green hydrogen production from OWS using perovskite-based photocatalysts.

关键词： bismuth-based hybrid perovskites thin films photocatalysis overall water splitting green hydrogen

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Prediction of sudden death in elderly patients with heart failure

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Journal of Geriatric Cardiology 2018年第2期15卷 185-192页

作者： Ana Ayesta Helena Martinez-Sellest antonio Bayes de Luna Manuel Martinez-Selles Cardiology Department Hospital Universitario del Sureste Arganda del Rey Madrid Spain Universidad Complutense Madrid Spain Fundacio lnvestigacio Cardiovascular ICCC Hospital de Sant Pau Barcelona Spain Cardiology Department Hospital General Universitario Gregorio Maranon CIVERCK Universidad Europea Madrid Spain

Most heart failure （HF） related mortality is due to sudden cardiac death （SCD） and worsening HF, particularly in the case of reduced ejection fraction. Predicting and preventing SCD is an important goal but most works include no or few patients with advanced age, and the prevention of SCD in elderly patients with HF is still controversial. A recent reduction in the annual rate of SCD has been recently described but it is not clear if this is also true in advanced age patients. Age is associated with SCD, although physicians frequently have the perception that elderly patients with HF die mainly of pump failure, underestimating the importance of SCD. Other clinical variables that have been associated to SCD are symptoms, New York Heart Association functional class, ischemic cause, and comorbidities （chronic obstructive pulmonary disease, renal dysfunction and diabetes）. Some test results that should also be considered are left ventricular ejection fraction and diameters, natriuretic peptides, non-sustained ventricular tachycardias and autonomic abnormalities. The combination of all these markers is probably the best option to predict SCD. Different risk scores have been described and, although there are no specific ones for elderly populations, most include age as a risk predictor and some were developed in populations with mean age 〉 65 years. Finally, it is important to stress that these scores should be able to predict any type of SCD as, although most are due to tachyarrhythmias, bradyarrhythmias also play a role, particularly in the case of the elderly.

关键词： Heart failure Prediction Risk Sudden death The elderly

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Growth plasticity of conifers did not avoid declining resilience to soil and atmospheric droughts during the 20th century

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Forest Ecosystems 2023年第2期10卷 238-251页

作者： Tong Zheng Jordi Martínez-Vilalta Raúl García-Valdés antonio Gazol J.Julio Camarero Changcheng Mu Maurizio Mencuccini Northeast Forestry University Harbin150040China CREAF E08193 Bellaterra(Cerdanyola del Vallès)CataloniaSpain Universitat Autònoma de Barcelona E08193 Bellaterra(Cerdanyola del Vallès)CataloniaSpain Centre de Ciència i Tecnologia Forestal de Catalunya(CTFC) E-25280SolsonaSpain Department of Biology GeologyPhysics and Inorganic ChemistryRey Juan Carlos University28933MóstolesMadridSpain Instituto Pirenaico de Ecologia(IPE-CSIC) Zaragoza50059Spain ICREA 08010BarcelonaSpain

Background:Plasticity in response to environmental drivers can help trees cope with ***,our understanding of the importance of plasticity and physiological adjustments in trees under global change is ***:We used the International Tree-Ring Data Bank(ITRDB)to examine 20th century growth responses in conifer trees during(resistance)and following(resilience)years of severe soil and atmospheric droughts occurring in isolation or as compound *** resilience indices were calculated using observed growth divided by expected growth to avoid spurious correlations,in which the expected values were obtained by the autoregressive moving average(ARIMA)*** used high atmospheric vapour pressure deficit(VPD)to select years of atmospheric drought and low annual values of the Standardized Precipitation-Evapotranspiration Index(SPEI)to select years with soil *** acquired the sensitivities(i.e.,the slopes of the relationships)by fitting the resilience indices as a function of environmental drivers,and assessed how these sensitivities changed over time for different types of drought events using linear mixed *** also checked whether plasticity in growth responses was sufficient to prevent long-term trends of growth reductions during or after severe *** acknowledge that by focusing on the response of surviving trees from the ITRDB we are potentially biasing our results towards higher resilience,as stand level responses(e.g.,mortality)may result in lowered competition after the disturbance ***:Sensitivities of resilience to VPD and SPEI changed throughout the 20th century,with the directions of these changes often reversing in the second half of the *** the 1961–2010 period,changing sensitivities had positive effects on resilience,especially following years of high-VPD and compound events,avoiding growth losses that would have occurred if sensitivities had remained *** sensitivity changes,resilience

关键词： Tree rings Growth Drought Vapor pressure deficit Plasticity Acclimation

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Acceptance of living liver donation among medical students: A multicenter stratified study from Spain

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World Journal of Gastroenterology 2016年第25期22卷 5800-5813页

作者： antonio Ríos Ana Isabel López-Navas Ana Isabel López-López Francisco Javier Gómez Jorge Iriarte Rafael Herruzo Gerardo Blanco Francisco Javier Llorca Angel Asunsolo Pilar Sánchez-Gallegos Pedro Ramón Gutiérrez Ana Fernández María Teresa de Jesús Laura Martínez-Alarcón Alberto Lana Lorena Fuentes Juan Ramón Hernández Julio Virseda José Yelamos José antonio Bondía antonio Miguel Hernández Marco antonio Ayala Pablo Ramírez Pascual Parrilla International Collaborative Donor Project ('Proyecto Colaborativo Internacional Donante' 30007 Casillas Murcia Spain Department of Surgery Paediatrics Obstetrics and Gynaecology University of Murcia Avenida de las Fuerzas Armadas 30800 Espinardo Murcia Spain Transplant Unit Surgery Service IMIB - Virgen de la Arrixaca University Hospital Carretera Madrid-Cartagena s/n 30120 El Palmar Murcia Spain Regional Transplant Centre Consejeria de Sanidad y Consumo de la Region de Murcia 30008 Ronda de Levante Murcia Spain Hospital Clinico Universitario Virgen de la Arrixaca Departamento de Cirugia General y del Aparato Digestivo Unidad de Trasplantes 30007 Casillas Murcia Spain Department of Psychology Universidad Catolica San Antonio (UCAM) Avenida de los Jeronimos 30107 Guadalupe Murcia Spain Department of Urology San Juan University Hospital of Alicante 03010 Calle Pintor Baeza Alicante Spain Universidad de Granada Avenida del Hospicio s/n 18010 Granada Spain Universidad de Navarra Campus Universitario 31080 Pamplona Navarra Spain Universidad Autonoma de Madrid Ciudad Universitaria de cantoblanco 28049 Madrid Spain Servicio de Cirugia HBP y Trasplante Hepatico Complejo Hospitalario Universitario de Badajoz Hospital Infanta Cristina Avenida Elvas s/n 06006 Badajoz Spain Universidad de Cantabria Avenida los Castros s/n 39005 Santander Cantabria Spain Departamento de Cirugia Ciencias Medicas y Sociales Facultad de Medicina y Ciencias de la Salud Universidad de Alcala Campus Cientifico-Tecnologico Plaza de San Diego s/n 28801 Alcala de Henares Madrid Spain Facultad de Medicina Universidad de Malaga 29071 Avenida de Cervantes Malaga Spain Servicio de Urologia (Complejo Hospitalario Universitario de Canarias CHUC) y Departamento de Cirugia (Universidad de La Laguna ULL) Calle Molinos de Agua s/n 38207 San Cristobal de La Laguna Santa Cruz de Tenerife Spain Departamento de Ciencias Biomedicas Basicas Facultad de Ciencias Biomedicas Universidad Europea de

AIM: To analyze the attitude of Spanish medical students toward living liver donation (LLD) and to establish which factors have an influence on this ***: Study type: A sociological, interdisciplinary, multicenter and observational study. Study population: Medical students enrolled in Spain (n = 34000) in the university academic year 2010-2011. Sample size: A sample of 9598 students stratified by geographical area and academic year. Instrument used to measure attitude: A validated questionnaire (PCID-DVH RIOS) was self-administered and completed anonymously. Data collection procedure: Randomly selected medical schools. The questionnaire was applied to each academic year at compulsory sessions. Statistical analysis: Student´s t test, χ2 test and logistic regression ***: The completion rate was 95.7% (n = 9275). 89% (n = 8258) were in favor of related LLD, and 32% (n = 2937) supported unrelated LLD. The following variables were associated with having a more favorable attitude: (1) age (P = 0.008); (2) sex (P < 0.001); (3) academic year (P < 0.001); (4) geographical area (P = 0.013); (5) believing in the possibility of needing a transplant oneself in the future (P < 0.001); (6) attitude toward deceased donation (P < 0.001); (7) attitude toward living kidney donation (P < 0.001); (8) acceptance of a donated liver segment from a family member if one were needed (P < 0.001); (9) having discussed the subject with one’s family (P < 0.001) and friends (P < 0.001); (10) a partner’s opinion about the subject (P < 0.001); (11) carrying out activities of an altruistic nature; and (12) fear of the possible mutilation of the body after donation (P < 0.001).CONCLUSION: Spanish medical students have a favorable attitude toward LLD.

关键词： Attitude Living liver donation Medical students Transplantation Organ donation Psychosocial variables Spain

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MXene multi-functionalization of polyrotaxane based PCMs and the applications in electronic devices thermal management

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Nano Materials Science 2024年第5期6卷 495-503页

作者： Guangzhong Yin Alba Marta Lopez Ignacio Collado antonio Vazquez-Lopez Xiang Ao Jose Hobson Silvia G.Prolongo Deyi Wang Escuela Politecnica Superior Universidad Francisco de VitoriaCtra.Pozuelo-Majadahonda Km 1.80028223 Pozuelo de AlarconMadridSpain IMDEA Materials Institute C/Eric Kandel228906GetafeMadridSpain Materials Science and Engineering Area Escuela Superior de Ciencias Experimentales y TecnologíaUniversidad Rey Juan CarlosC/Tulipan s/n28933MadridSpain Universidad Carlos III de Madrid Departamento de Ciencia e Ingeniería de Materiales e Ingeniería QuímicaIAAB.Avda.Universidad3028911LeganesMadridSpain Instituto de Tecnologías para la Sostenibilidad Universidad Rey Juan CarlosC/Tulipan s/n28933MadridSpain

The aim of this work was to improve the thermal conductivity and electromagnetic shielding of the leakage proof phase change materials(PCMs),in which a polyrotaxane(PLR)was used as a support material to encapsulate PEG 1k or PEG 6k and MXene as multi-functional *** PCMs can be processed conveniently by a hot press and the PEG 1k containing samples showed excellent *** conducted a systematic evaluation of the phase transition behavior of the material,thermal conductivity and electromagnetic shielding performance ***,the PCMs achieved a high enthalpy values(123.9–159.6 J/g).The PCMs exhibited an increase of 44.3%,and 137.5%in thermal conductivity values with higher MXene content(5 wt%)for PLR-PEG6k and PLR-PEG1k,respectively,and show high shape stability and no leakage during and after phase *** introduction of MXene can significantly improve the electromagnetic shielding performance of PCM ***,higher conductive samples(samples which contain high MXene contents)offer a higher EMI SE shielding,reaching a maximum of 4.67 dB at 5.6 GHz for *** improvements solve the main problems of organic PEG based PCMs,thus making PLR-PEG-MXene based PCMs good candidates for thermoregulators of both solid-state disks and smart *** is worth pointing out that the sample PLR-1k-MX5 can decrease 4.3C of the reference temperature during cellphone ***,the temperature of the protecting sheet in the simulated solid state disk with PCM was significantly lower(showing a decreasing of 7.9℃)compared with the blank sample.

关键词： Phase change materials Thermal regulation MXene Polyrotaxane Nanocomposites

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Relational coordination and healthcare management in lung cancer

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World Journal of Clinical Cases 2014年第12期2卷 757-768页

作者： José antonio Vinagre Romero Juan Del Llano Se?arís Carmen De Pablos Heredero Mark Nuijten Clinical Management Business Organization Entrepreneurship Health Administration Business Organization Universidad Rey Juan Carlos Respiratory Unit at La Paz University Hospital28046 Madrid Spain Community Health Gaspar Casal Foundation Universidad Pompeu Fabra-CRES 28006 Madrid Spain Economics Rey Juan Carlos University School of Social Sciences Doctoral Program in Business Organization and Entrepreneurship 28032 Madrid Spain Rotterdam School of Management Erasmus University University of Maastricht the University of Groningen 3062 PA Rotterdam The Netherlands

In the current socio-economic scenario characterized by a growing shortage of resources and progressive budget constraints, the need to better coordinate processes in health institutions appears as a relevant aspect to ensure the future sustainability of system. In this sense, Relational Coordination(RC) provides a valuable opportunity for the reconfiguration of clinical guidelines concerning isolated single-level considerations. In this research the RC model has been applied to explain best results in the process of diagnosing and offering clinical treatments for lung cancer. Lung cancer presents the higher rates of tumor's mortality worldwide. Through unstructured and informal interviews with clinicians at both levels(Primary/Specialist Care), a diagnosis of the situation in relation to joint management of lung cancer is provided. Solutions of continuity in terms of coordination are explained due to the observation of lack of effective knowledge transfer between the two levels. It is this disconnection which justifies the introduction of a modified model of RC for the study and implementation of transfer relations between the knowledge holders, in order to structure consolidated and cooperative evidence-based models that lead to a substantial shortening in the response times with a marked outcomes improvement. To our knowledge, the application of this model to a Public Health problem bringing together both levels of care, hasn't been made till now.

关键词： Relational Coordination Lung cancer Clinical pathway Dialogic practices High performance work systems Healthcare performance

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