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Muckle-Wells syndrome: manifestations and diagnosis in four generations of a Portuguese family

World Journal of Pediatrics 2020年第5期16卷 541-542页

作者： Soraia Raquel Loureiro Azevedo Daniela Filipa Marinho Peixoto Rheumatology department Unidade Local de Satúde Do Alto MinhoHospital Conde Bertiandos4990-041Ponte de LimaPortugal

Several medical conditions can present as fever and rash in children,including infections,hypersensitivity reactions and immune-mediated diseases[1].Cryopyrin-associated periodic syndrome(CAPS)is a group of inherited autoinflammatory disorders caused by gain-of-function mutations in the NLRP3 gene(CIAS 1).CAPS encompass a spectrum of diseases including Muckle-Wells syndrome(MWS).The A439V mutation is considered a disease-causing mutation,although clinical phenotypes can be diverse[2].MWS is characterized by recurrent episodes of fever,urticarial rash,arthralgia/arthritis,and more rarely,oral ulcers,folliculitis,or erythema nodosum[3].

关键词： diagnosis CAPS fever

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Axillary Lymph Node Metastasis of Colon Cancer—Case Report and Literature Review

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Case Reports in Clinical Medicine 2014年第12期3卷 669-673页

作者： Helena devesa Luísa Pereira Alvaro Goncalves Telma Brito Teresa Almeida Rui Torres Alberto Midoes Servico de Cirurgia Geral Unidade Local de Saúde do Alto MinhoViana do CasteloPortugal

The most common metastatic sites of colon cancer are local lymph nodes, liver and lungs. Lymph node metastasis at distant sites is rare. In this article, we describe the case of a patient with ascending colon cancer with a metastasis in an axillary lymph node. The clinical presentation of this tumor was with an intestinal obstruction, and an emergency resection surgery was undertaken. The patient died at the third post-operative month, with lymph node and hepatic metastasis, and implants in the abdominal fat and in the mesentery, near the ileocolic anastomosis.

关键词： Lymphangioleiomyomatosis Everolimus Angiomyolipoma Lung Transplant

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Non-invasive respiratory support for COVID-19-related acute respiratory failure

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Chinese Medical Journal 2022年第4期135卷 416-418页

作者： João Carlos Winck Joaquim Moreira department of Medicine Faculty of Medicine-Porto UniversityPorto 4200-319Portugal unidade local de saúde do alto minho Viana do CasteloPortugal

The European Respiratory Society/American Thoracic Society clinical practice guidelines,which are only recommendatory,suggest utilization of non-invasive respiratory support therapies(NRST)as a preventive strategy for avoiding intubation in hypoxemic acute respiratory failure(ARF).[1]Theoretical concerns against the use of NRST are essentially related to safety reasons for the risk of the virus spreading among healthcare workers(HCW)and for the risk of delaying intubation in case of failure.

关键词： respiratory acute clinical

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Needle knife fstulotomy in flat and diverticular papillae:Is it time for redemption?

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Hepatobiliary & Pancreatic Diseases International 2022年第2期21卷 175-181页

作者： João Fernandes Jorge Canena Marta Moreira Gonçalo Alexandrino Luísa Figueiredo Tarcísio Araújo Luís Lourenço David Horta Luís Lopes department of Gastroenterology Santa Luzia Hospital-Unidade Local de Saúde Alto MinhoViana do CasteloPortugal department of Gastroenterology Professor Doutor Fernando Fonseca HospitalAmadoraPortugal department of Gastroenterology Nova Medical School/Faculty of Medical SciencesLisbonPortugal University Center of Gastrenterology-Hospital Cuf Tejo LisbonPortugal Life and Health Sciences Research Institute(ICVS) School of MedicineUniversity of MinhoBragaPortugal ICVS/3B’s-PT Government Associate Laboratory Braga/GuimarãesPortugal

Background: European Society of Gastrointestinal Endoscopy( ESGE) recommends needle-knife fstulotomy(NKF) as the preferred precut technique in cases when standard cannulation techniques fail. despite scarce scientifc evidence, flat and diverticular papillae are thought not to be ideal for NKF, as they are associated with poor outcomes. The present study aimed to determine the outcomes of the use of NKF in relation to flat and intradiverticular papillae. Methods: This prospective multicenter study enrolled consecutive patients, evidencing na?ve flat(group A, n = 49) or diverticular papilla(group B, n = 28), who underwent NKF after failure of standard cannulation techniques. Diverticular morphology was subdivided into intradiverticular(group B1, n = 14) and diverticular border papillae(group B2, n = 14), using a previously validated endoscopic classifcation of the major papilla. The success of biliary cannulation at initial endoscopic retrograde cholangiopancreatography(ERCP), overall biliary cannulation, overall cannulation time, and the rate of adverse events were assessed in the study. Results: The initial cannulation rates were 93.9%, 64.3% and 71.4% for group A, B1, and B2, respectively( P = 0.005);overall cannulation rates after a second ERCP were 98.0%, 92.9% and 85.7%, respectively( P = 0.134). Adverse events occurred in 11.7% of patients, with post-ERCP pancreatitis(PEP) being the most common adverse event(10.4%). Although there was a trend towards a higher incidence of PEP in flat papillae, univariate and multivariate analyses did not show any signifcant relationship between pancreatitis and trainee involvement, papillary morphology, nor overall cannulation time. Conclusions: Although flat papillae are associated with high success rates of biliary cannulation using NKF, the rate of PEP is not negligible. NKF is feasible in diverticular papillae, but it is associated with a modest success rate in the initial ERCP.

关键词： Endoscopic retrograde cholangiopancreatography Needle-knife fstulotomy Small papilla Diverticular papilla Complications

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A multi-scale modelling framework to guide management of plant invasions in a transboundary context

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Forest Ecosystems 2016年第4期3卷 297-310页

作者： Joao Martins David M.Richardson Renato Henriques Elizabete Marchante Hélia Marchante Paulo Alves Mirijam Gaertner Joao P.Honrado Joana R.Vicente InBIO/CIBIO-Centro de Investigacao em Biodiversidade e Recursos Geneticos Universidade do Porto-Campus Agrario de VairaoRua Padre Armando Quintasn°74485-661 VairaoPortugal Centre for Invasion Biology Department of Botany and ZoologyStellenbosch UniversityMatieland 7602South Africa Institute of Earth Sciences(ICT/University of minho/CCT) MinhoPortugal Centre for Functional Ecology Department of Life SciencesUniversity of Coimbra3000-456 CoimbraPortugal departamento de Ambiente Escola Superior Agraria de CoimbraInstituto Politecnico de CoimbraBencanta3045-601 CoimbraPortugal Faculdade de Ciencias da Universidade do Porto Ediffcio FC4(Biologia)Rua do Campo Alegres/n4169-007 PortoPortugal Environmental Resource Management department Westlake Conservation OfficeOu Kaapse WegTokai7966 City of Cape TownSouth Africa

Background：Attention has recently been drawn to the issue of transboundary invasions,where species introduced and naturalized in one country cross international borders and become problematic in neighbouring *** modelling frameworks,able to identify the environmental drivers of invasion and forecast the current and future potential distribution of invasive species,are needed to study and manage *** due to the lack of species distribution and environmental data,or assumptions of modelling tools,often constrain the reliability of model ***：We present a multiscale spatial modelling framework for transboundary invasions,incorporating robust modelling frameworks（Multimodel Inference and Ensemble Modelling） to overcome some of the *** framework is illustrated using Hakea sericea Schrad.（Proteaceae）,a shrub or small tree native to Australia and invasive in several regions of the world,including the Iberian *** study scales were considered：regional scale（western Iberia,including mainland Portugal and Galicia） and local scale（northwest Portugal）.At the regional scale,the relative importance of environmental predictors sets was evaluated and ranked to determine the main general drivers for the species distribution,while the importance of each environmental predictor was assessed at the local *** potential distribution of *** was spatially projected for both scale ***：Model projections for western Iberia suggest that a large area is environmentally suitable in both Portugal and *** and landscape composition sets were the most important determinants of this regional distribution of the ***,a geological predictor（schist lithology） was more important in explaining its local-scale ***：After being introduced to Portugal,*** has become a transboundary invader by expanding in parts of Galicia（Spain）.The fact that a larger area is predicted as

关键词： Drivers of invasion Hakea sericea Multimodel inference Transboundary invasion management Species distribution models

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Residents’ Perceptions of the Tourism Impacts on a Mature destination: The Case of Madeira Island

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Journal of Tourism and Hospitality Management 2019年第4期7卷 149-167页

作者： Diogo Teixeira J.Cadima Ribeiro School of Economics and Management University of MinhoBragaPortugal

Residents play a fundamental role in the quality of tourists’experiences and satisfaction derived from a visit and,thus,in the success of a tourism *** paper addresses the perceptions that residents have the impacts of tourism on Madeira Island,a mature tourism *** on data extracted from a survey administered to residents during August and September 2018,we inquired on the extent to which they maintain a positive perception of the impacts of the tourist *** survey tried to address the residents’perceptions of economic,cultural,social,or environmental *** the analysis of the data,both descriptive and multivariable statistical methods were *** empirical results attained indicate that residents feel that there is no excess of tourism on the *** do not fail to realize that there are a few negative consequences,but the positive ones got better scores on *** an inhabitant of an urban or a rural site did not seem to influence differently the perceptions gathered on the contribution of tourism to the overall development of Madeira *** type of analysis can serve as a useful tool for tourism planners and managers in order to prevent or minimize eventual negative impacts of the tourism industry as felt by the local inhabitants and,thus,for creating the required policies.

关键词： residents’perceptions tourism impacts Madeira Island

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