Browsing by Author "Carvalho, J."
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- Characterization of mitochondrial proteome in a severe case of ETF-QO deficiencyPublication . Rocha, H.; Ferreira, R.; Carvalho, J.; Vitorino, R.; Santa, C.; Lopes, L.; Gregersen, N.; Vilarinho, L.; Amado, F.Multiple acyl-CoA dehydrogenase deficiency (MADD) is a mitochondrial fatty acid oxidation disorder caused by mutations that affect electron transfer flavoprotein (ETF) or ETF:ubiquinone oxidoreductase (ETF-QO) or even due to unidentified disturbances of riboflavin metabolism. Besides all the available data on the molecular basis of FAO disorders, including MADD, the pathophysiological mechanisms underlying clinical phenotype development, namely at the mitochondrial level, are poorly understood. In order to contribute to the elucidation of these mechanisms, we isolated mitochondria from cultured fibroblasts, from a patient with a severe MADD presentation due to ETF-QO deficiency, characterize its mitochondrial proteome and compare it with normal controls. The used approach (2-DE-MS/MS) allowed the positive identification of 287 proteins in both patient and controls, presenting 35 of the significant differences in their relative abundance. Among the differentially expressed are proteins associated to binding/folding functions, mitochondrial antioxidant enzymes as well as proteins associated to apoptotic events. The overexpression of chaperones like Hsp60 or mitochondrial Grp75, antioxidant enzymes and apoptotic proteins reflects the mitochondrial response to a complete absence of ETF-QO. Our study provides a global perspective of the mitochondrial proteome plasticity in a severe case of MADD and highlights the main molecular pathways involved in its pathogenesis.
- A molecular approach to frailty in older adultsPublication . Costa, S.; Costa, C.; Silva, S.; Carvalho, J.; Laffon, B.; Teixeira, João PauloPopulation ageing is transforming economies and societies across the world. The European Commission has appointed Ageing (and Healthy Ageing) one of the main priorities in the next Horizon 2020 Framework Program as part of the Societal Challenges in Europe. The prevention of Frailty in old age is one of the key actions identified. Frailty is a multidimensional syndrome characterized by increased vulnerability and functional decline that may be reversed, but if not addressed leads to long-term disability and hospitalisation. The aim of the present study is (a) to identify new cellular and molecular biomarkers associated with “frailty” that might be detected before clinical manifestations become evident, (b) to clarify the effect of physical exercise to prevent or even reverse frailty, and (c) to evaluate the potential influence of physical exercise on the biomarkers studied.
- The impact of an acute exercise challenge on DNA damage: an human interventionPublication . Duarte, A.; Abreu, A.; Silva, D.; Carvalho, J.; Montanha, T.; Moreira, A.; Teixeira, J. P.; Costa, C.Even though it is commonly accepted that a regular physical activity along with a healthy diet brings positive health-related outcomes, it also seems to be related to several alterations in the human metabolism, organs, cells and deoxyribonucleic acid (DNA). Indeed, there is consistent evidence supporting that above a certain level of intensity and duration, exercise may induce an increase in the generation of reactive oxygen species (ROS). The aim of this study was to analyse the immediate impact of an acute exercise challenge on human’s DNA damage, taking into account their individual characteristics and fitness levels.
- The typical presentation of an atypical pathogen during an outbreak of Legionnaires’ disease in Vila Franca de Xira, Portugal, 2014Publication . Dias, A.; Cysneiros, A.; Lopes, F.T.; von Amann, B.; Costa, C.; Dionísio, P.; Carvalho, J.; Durão, V.; Carvalho, G.; Paula, F.; Serrado, M.; Nunes, B.; Marques, T.; Froes, F.; Bárbara, C.Background: An outbreak of Legionella pneumophila serogroup 1, with 403 cases was identified on the 7th November 2014 in Vila Franca de Xira, Portugal. Outbreak source was the wet cooling system of a local factory. Hospital Pulido Valente was one of the hospitals receiving patients with Legionnaires’ disease (LD). Methods: We describe the clinical findings and diagnostic methods used among the 43 confirmed or probable cases admitted to our department. Results: 60.5% were male, mean age was 56.1 ± 13.5 years and tobacco smoking was the most frequent risk factor (76.7%). All patients had fever, 62.8% ≥39.5 ◦C, 72.1% had chills and myalgia/arthralgia and 62.8% had dry cough. Extra pulmonary symptoms were frequent: confusion and headache occurred in 34.9% and gastrointestinal symptoms in 20.9%. High C-Reactive Protein (55.8% ≥30 mg/dL) and hyponatremia (62.8%) were the laboratorial abnormalities most commonly found. Hypoxemia occurred in 55.8% and hypocapnia in 93%. Urinary Antigen Test (UAT) was positive in 83.7% of the cases. Conclusions: Although not specific, a combination of risk factors, symptoms and laboratory findings can be highly suggestive of LD, even in an outbreak. This should prompt diagnosis