Estudo do comportamento de fogos florestais com base no modelo FARSITE

Mestrado em Engenharia do AmbienteO trabalho central desta dissertação consistiu na análise do comportamento de diferentes fogos florestais, recorrendo ao modelo de progressão de fogo FARSITE. Este simula a progressão de um fogo e assim calcula a área ardida, permite também testar a sua extinção através de várias técnicas de combate. Na sequência da estimativa da área ardida, calcularam-se ainda as emissões de compostos para a atmosfera pelos fogos florestais em estudo. Estas foram determinadas tendo em consideração a eficiência de combustão, o tipo de vegetação (carga combustível), os factores de emissão relativos a cada poluente e a área ardida, em cada uma das ocorrências. Ao longo deste trabalho procurou-se evidenciar que os incêndios florestais constituem uma fonte de emissão de compostos gasosos e particulados que afectam a saúde humana, em particular dos bombeiros, significativamente expostos no decorrer do seu combate.The focus of this dissertation was to examine the behavior of different forest fires, using the model of fire progression FARSITE. The FARSITE simulates the progression of a fire and calculates the burned area; it also allows testing the efficiency of fighting techniques. The burned estimated area is the base for the calculation of forest fire emission to the atmosphere. Therefore emissions of pollutants during forest fires were determined using the combustion efficiency, the type of vegetation (fuel load), the emission factors for each pollutant and the area burned in each fire event. This work highlights that forest fires are a source of gaseous compounds and particles to the atmosphere, which affect human health. Firefighters are particularly affected due to their exposure to smoke along fire fighting activities

Derrame parapneumônico como complicação a Pneumonia comunitária na infância: relato de caso

O derrame parapneumônico (DPP) deve ser investigado diante da suspeita de uma pneumonia bacteriana, haja vista que há pior prognóstico com retardo na instituição do tratamento adequado.  A pneumonia comunitária (PAC) é a principal causa de mortalidade em crianças menores de cinco anos nos países em desenvolvimento,2 suas complicações representam importantes causas de morbidade e mortalidade na população pediátrica, sendo a PAC complicada àquela que mesmo em uso de antibioticoterapia, evolui com complicações, como DPP.3O presente relato, objetiva elucidar PAC na infância tendo derrame parapneumônico como complicação ao processo fisiopatológico da doença; evidenciando os aspectos clínicos e diagnósticos, em consonância ao tratamento proposto pelos guidelines atuais. Os dados relatados foram obtidos por meio do acesso ao prontuário médico do paciente e entrevista à progenitora do mesmo. Fora realizada revisão bibliográfica nas plataformas de pesquisa Scielo e Revistas Periódicas da Sociedade Brasileira de Pediatria.  O caso clinico descreve a pneumonia pediátrica complicada, com presença de DPP à direita, em paciente do sexo masculino, com 1 ano de idade. Ressalta-se a evolução rápida do quadro e acentuação de gravidade, demonstrada por critérios clínicos, laboratoriais e imagenológicos pertinentes ao caso. Outrossim, como proposto pela Sociedade Brasileira de Pediatria, a antibioticoterapia de amplo espectro foi administrada, com vancomicina e ceftriaxone; 4 sendo ainda prescritos toracostomia com drenagem torácica e administração de fibrinolítico com alteplase intrapleural, para abordagem química do DPP.1 O tratamento adjunto de suporte ventilatório foi indicado, com uso de macronebulização de oxigenioterapia e fisioterapia motora e respiratória. A evolução foi favorável, com alta médica após 23 dias de hospitalização em Unidade de Terapia Intensiva, com encaminhamento ao pediatra assistente

MarinEye - A tool for marine monitoring

This work presents an autonomous system for marine integrated physical-chemical and biological monitoring – the MarinEye system. It comprises a set of sensors providing diverse and relevant information for oceanic environment characterization and marine biology studies. It is constituted by a physicalchemical water properties sensor suite, a water filtration and sampling system for DNA collection, a plankton imaging system and biomass assessment acoustic system. The MarinEye system has onboard computational and logging capabilities allowing it either for autonomous operation or for integration in other marine observing systems (such as Observatories or robotic vehicles. It was designed in order to collect integrated multi-trophic monitoring data. The validation in operational environment on 3 marine observatories: RAIA, BerlengasWatch and Cascais on the coast of Portugal is also discussed.info:eu-repo/semantics/publishedVersio

Cardiomiopatia de Takotsubo: uma breve revisão sistemática: Takotsubo Cardiomiopathy: a brief systematic review

A cardiomiopatia de Takotsubo é uma nova cardiomiopatia que foi noticiada pela primeira vez em 2001. A doença é definida por disfunção reversível do ventrículo esquerdo e manifesta-se normalmente como uma síndrome coronária aguda. Este estudo teve como objetivo discutir as principais características da cardiomiopatia takotsubo. Para isso, foi desenvolvida uma revisão sistemática de literatura, recorrendo-se às bases de dados Scielo, Medline e Lilacs, selecionando-se estudos publicados nos últimos 5 anos. A partir da análise e interpretação dos dados das fontes foi possível concluir que a cardiomiopatia de takotsubo é desencadeada pelo estresse físico e é vista como uma complicação para outras doenças não cardíacas, se apresentando geralmente em mulheres pós-menopausa, acima dos 70 anos de idade. Manifesta-se com início súbito de dor torácica e dispneia, após um evento emocional estressante que precede o início dos sintomas. Com principais consequências, tem-se choque cardiogênico, obstrução da via de saída do ventrículo esquerdo, trombo da parede ventricular esquerda, arritmias ventriculares, ruptura da parede ventricular e paragem cardíaca, registrando-se alguns casos de morte súbita

Transcriptome-wide association study of breast cancer risk by estrogen-receptor status

Previous transcriptome-wide association studies (TWAS) have identified breast cancer risk genes by integrating data from expression quantitative loci and genome-wide association studies (GWAS), but analyses of breast cancer subtype-specific associations have been limited. In this study, we conducted a TWAS using gene expression data from GTEx and summary statistics from the hitherto largest GWAS meta-analysis conducted for breast cancer overall, and by estrogen receptor subtypes (ER+ and ER-). We further compared associations with ER+ and ER- subtypes, using a case-only TWAS approach. We also conducted multigene conditional analyses in regions with multiple TWAS associations. Two genes, STXBP4 and HIST2H2BA, were specifically associated with ER+ but not with ER- breast cancer. We further identified 30 TWAS-significant genes associated with overall breast cancer risk, including four that were not identified in previous studies. Conditional analyses identified single independent breast-cancer gene in three of six regions harboring multiple TWAS-significant genes. Our study provides new information on breast cancer genetics and biology, particularly about genomic differences between ER+ and ER- breast cancer.Peer reviewe

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer.

Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 are associated with breast cancer risk. FANCM, which encodes for a DNA translocase, has been proposed as a breast cancer predisposition gene, with greater effects for the ER-negative and triple-negative breast cancer (TNBC) subtypes. We tested the three recurrent protein-truncating variants FANCM:p.Arg658*, p.Gln1701*, and p.Arg1931* for association with breast cancer risk in 67,112 cases, 53,766 controls, and 26,662 carriers of pathogenic variants of BRCA1 or BRCA2. These three variants were also studied functionally by measuring survival and chromosome fragility in FANCM -/- patient-derived immortalized fibroblasts treated with diepoxybutane or olaparib. We observed that FANCM:p.Arg658* was associated with increased risk of ER-negative disease and TNBC (OR = 2.44, P = 0.034 and OR = 3.79; P = 0.009, respectively). In a country-restricted analysis, we confirmed the associations detected for FANCM:p.Arg658* and found that also FANCM:p.Arg1931* was associated with ER-negative breast cancer risk (OR = 1.96; P = 0.006). The functional results indicated that all three variants were deleterious affecting cell survival and chromosome stability with FANCM:p.Arg658* causing more severe phenotypes. In conclusion, we confirmed that the two rare FANCM deleterious variants p.Arg658* and p.Arg1931* are risk factors for ER-negative and TNBC subtypes. Overall our data suggest that the effect of truncating variants on breast cancer risk may depend on their position in the gene. Cell sensitivity to olaparib exposure, identifies a possible therapeutic option to treat FANCM-associated tumors

Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.

We analyzed 3,872 common genetic variants across the ESR1 locus (encoding estrogen receptor α) in 118,816 subjects from three international consortia. We found evidence for at least five independent causal variants, each associated with different phenotype sets, including estrogen receptor (ER(+) or ER(-)) and human ERBB2 (HER2(+) or HER2(-)) tumor subtypes, mammographic density and tumor grade. The best candidate causal variants for ER(-) tumors lie in four separate enhancer elements, and their risk alleles reduce expression of ESR1, RMND1 and CCDC170, whereas the risk alleles of the strongest candidates for the remaining independent causal variant disrupt a silencer element and putatively increase ESR1 and RMND1 expression.This is the author accepted manuscript. The final version is available from Nature Publishing Group via http://dx.doi.org/10.1038/ng.352

Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (P<5 × 10−8) with oestrogen receptor (ER)-negative breast cancer and BRCA1-associated breast cancer risk. In this study, to identify new ER-negative susceptibility loci, we performed a meta-analysis of 11 genome-wide association studies (GWAS) consisting of 4,939 ER-negative cases and 14,352 controls, combined with 7,333 ER-negative cases and 42,468 controls and 15,252 BRCA1 mutation carriers genotyped on the iCOGS array. We identify four previously unidentified loci including two loci at 13q22 near KLF5, a 2p23.2 locus near WDR43 and a 2q33 locus near PPIL3 that display genome-wide significant associations with ER-negative breast cancer. In addition, 19 known breast cancer risk loci have genome-wide significant associations and 40 had moderate associations (P<0.05) with ER-negative disease. Using functional and eQTL studies we implicate TRMT61B and WDR43 at 2p23.2 and PPIL3 at 2q33 in ER-negative breast cancer aetiology. All ER-negative loci combined account for ∼11% of familial relative risk for ER-negative disease and may contribute to improved ER-negative and BRCA1 breast cancer risk prediction

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

Abstract: Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 are associated with breast cancer risk. FANCM, which encodes for a DNA translocase, has been proposed as a breast cancer predisposition gene, with greater effects for the ER-negative and triple-negative breast cancer (TNBC) subtypes. We tested the three recurrent protein-truncating variants FANCM:p.Arg658*, p.Gln1701*, and p.Arg1931* for association with breast cancer risk in 67,112 cases, 53,766 controls, and 26,662 carriers of pathogenic variants of BRCA1 or BRCA2. These three variants were also studied functionally by measuring survival and chromosome fragility in FANCM−/− patient-derived immortalized fibroblasts treated with diepoxybutane or olaparib. We observed that FANCM:p.Arg658* was associated with increased risk of ER-negative disease and TNBC (OR = 2.44, P = 0.034 and OR = 3.79; P = 0.009, respectively). In a country-restricted analysis, we confirmed the associations detected for FANCM:p.Arg658* and found that also FANCM:p.Arg1931* was associated with ER-negative breast cancer risk (OR = 1.96; P = 0.006). The functional results indicated that all three variants were deleterious affecting cell survival and chromosome stability with FANCM:p.Arg658* causing more severe phenotypes. In conclusion, we confirmed that the two rare FANCM deleterious variants p.Arg658* and p.Arg1931* are risk factors for ER-negative and TNBC subtypes. Overall our data suggest that the effect of truncating variants on breast cancer risk may depend on their position in the gene. Cell sensitivity to olaparib exposure, identifies a possible therapeutic option to treat FANCM-associated tumors