Esponjas marinhas : dos fundos oceânicos aos fármacos.

A secção Biologia é coordenada pelo Professor Universitário Armindo Rodrigues.Para além de desempenharem papéis ecológicos fulcrais as esponjas constituem um dos grupos marinhos com maior potencial de aplicação biotecnológica

Identification of genetic risk factors for Behçet’s disease

Tese de doutoramento, Ciências Biomédicas (Genética), Universidade de Lisboa, Faculdade de Medicina, 2013Background: Behçet’s disease (BD) is a complex disorder characterized by a generalized vasculitis, whose pathophysiology remains unclear. The identification of genes involved in BD can help to elucidate the disease mechanisms and, ultimately, result in diagnostic and treatment advances.Objectives: To identify genetic risk factors implicated in BD susceptibility. Methods: We performed four independent studies: 1) Analysis of the role of the mitochondrial genome by testing the association of mitochondrial haplogroups and variants with BD risk in 615 Iranian BD cases and 434 controls; 2) Follow-up of IL10 and IL23RIL12RB2 associations, previously identified as BD risk factors, in 973 Iranian BD cases and 637 controls; 3) Gene expression profiling in 15 Portuguese BD cases and 14 controls and association testing of the differentially expressed genes in 976 Iranian BD cases and 839 controls; 4) A genome-wide association study for the Iranian population in DNA pools of 292 BD cases and 294 controls and replication of the association findings in 684 BD cases and 532 controls.Results: We identified a novel association of BD with the mitochondrial 12S rRNA gene (7.00E-03<P<3.80E-02); replicated the association of IL10 (P=2.53E-02) and IL23R-IL12RB2 loci (1.93E-06<P<1.78E-05) and identified the region upstream IL23R as the most associated one; identified EREG, AREG and NRG1 (members of the Neuregulin signalling) as downregulated in BD patients, found a novel association in the EREG-AREG locus (P=2.51E-02) and replicated three associations at NRG1 (6.61E-04<Pmeta<2.10E-03); and identified five coding variants at FUT2 associated with BD (2.97E-06<P<1.34E-04).Conclusions: During the course of this project we have uncover the mitochondrial genome,the neuregulin signaling and the FUT2 gene as novel players in BD susceptibility that may contribute to the abnormal immunological response observed in BD patients. We have further contributed to establish the IL10 and IL23R loci as worldwide risk factors for Behçet’s disease.Introdução: A doença de Behçet (DB) é uma doença complexa caracterizada por uma vasculite generalizada, cuja patofisiologia é ainda pouco conhecida. A identificação de genes envolvidos na DB pode ajudar a elucidar os mecanismos de doença levando a avanços a nível do diagnóstico e tratamento.Objetivos: Identificar factores de risco genético para a DB. Métodos: Realizou-se quatro estudos independentes: 1) Análise do papel do genoma mitocondrial, onde se testou a associação da DB com haplogrupos e variantes mitocondriais, em 615 casos e 434 controlos Iranianos; 2) Follow-up da associação dos genes IL10 e IL23RIL12RB, previamente identificados como factores de risco para a DB, em 973 casos e 637 controlos Iranianos; 3) Estudo de perfis génicos em 15 casos com DB e 14 controlos Portugueses e teste da associação dos genes diferencialmente expressos em 976 casos e 839 controlos Iranianos; 4) Estudo de associação no genoma inteiro (GWAS) para a DB na população Iraniana, em pools de ADN com 292 casos e 294 controlos, e replicação das associações identificadas em 684 casos e 532 controlos.Resultados: Identificou-se uma nova associação da DB com o gene mitocondrial 12S rRNA (7.00E-03<P<3.80E-02); Replicou-se a associação do IL10 (P=2.53E-02) e locus IL23R-IL12RB2 (1.93E-06>P<1.78E-05) e identificou-se a região regulatória do IL23R como a mais mais fortemente associada; Verificou-se a sub-expressão do EREG, AREG e NRG1 (pertencentes à via da Neuregulina) em pacientes com DB, a associação do locus EREG-AREG (P=2.51E-02) e replicou-se três associações no NRG1 (6.61E-04<Pmeta<2.10E-03); Identificou-se cinco variantes codificantes no FUT2 associadas com a DB (2.97E-06<P<1.34E-04). Conclusões: Durante o curso deste projecto, identificou-se o genoma mitocondrial, a via da Neuregulina e o FUT2 como novos intervenientes na suscetibilidade para a DB que podem contribuir para a resposta imunológica alterada observada nos pacientes com DB. Adicionalmente, contribui-se para estabelecer o IL10 e IL23R como fatores de risco mundiais para a DB

Analysis of minimal metabolic networks through whole-cell in silico modelling of prokaryotes

Tese de Mestrado Integrado. Bioengenharia. Faculdade de Engenharia. Universidade do Porto. 201

Manifestações hepatobiliares da doença inflamatória intestinal

Cochery Adolphe. Facultés de médecine. Institution d'agrégés. In: Bulletin administratif de l'instruction publique. Tome 23 n°455, 1880. pp. 863-864

Decision-making support systems on extended hospital length of stay: validation and recalibration of a model for patients with AMI

Copyright © 2023 Xavier, Seringa, Pinto and Magalhães. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.Background: Cardiovascular diseases are still a significant cause of death and hospitalization. In 2019, circulatory diseases were responsible for 29.9% of deaths in Portugal. These diseases have a significant impact on the hospital length of stay. Length of stay predictive models is an efficient way to aid decision-making in health. This study aimed to validate a predictive model on the extended length of stay in patients with acute myocardial infarction at the time of admission. Methods: An analysis was conducted to test and recalibrate a previously developed model in the prediction of prolonged length of stay, for a new set of population. The study was conducted based on administrative and laboratory data of patients admitted for acute myocardial infarction events from a public hospital in Portugal from 2013 to 2015. Results: Comparable performance measures were observed upon the validation and recalibration of the predictive model of extended length of stay. Comorbidities such as shock, diabetes with complications, dysrhythmia, pulmonary edema, and respiratory infections were the common variables found between the previous model and the validated and recalibrated model for acute myocardial infarction. Conclusion: Predictive models for the extended length of stay can be applied in clinical practice since they are recalibrated and modeled to the relevant population characteristics.This study was funded by Fundação Ciência e Tecnologia, IP national support through CHRC (UIDP/04923/2020).info:eu-repo/semantics/publishedVersio

Geomorphometric characterization of pockmarks by using a GIS-based semi-automated toolbox

Pockmarks are seabed depressions developed by fluid flow processes that can be found in vast numbers in many marine and lacustrine environments. Manual mapping of these features based on geophysical data is, however, extremely time-consuming and subjective. Here, we present results from a semi-automated mapping toolbox developed to allow more efficient and objective mapping of pockmarks. This ArcGIS-based toolbox recognizes, spatially delineates, and morphometrically describes pockmarks. Since it was first developed, the toolbox has helped to map and characterize several thousands of pockmarks on the UK continental shelf, especially within the central North Sea. This paper presents the latest developments in the functionality of the toolbox and its adaptability for application to other geographic areas (Barents Sea, Norway, and Malin Deep, Ireland) with varied pockmark and seabed morphologies, and in different geological settings. The morphometric characterization of vast numbers of pockmarks allows an unprecedented statistical analysis of their morphology. The outputs from the toolbox provide an objective, quantitative baseline for combining this information with the geological and oceanographical knowledge of individual areas, which can provide further insights into the processes responsible for their development and their influence on local seabed conditions and habitat