Browsing by Author "Azevedo, Pedro"
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- Bradiarritmias: abordagem em contexto pré e intra-hospitalarPublication . Costa, Hugo; Azevedo, Pedro; Carvalho, Daniela; Candeias, Rui; Jesus, IlidioAs bradiarritmias são eventos arrítmicos frequentes em contexto urgente e emergente. A sua frequência aumenta com a idade devido à evolução degenerativa do sistema de condução cardíaco, embora também possam ser encontradas em idades jovens e atletas treinados. A doença sinoauricular e os bloqueios auriculoventriculares são os mecanismos fisiopatológicos mais comuns no que diz respeito aos distúrbios da condução. Uma correta investigação é essencial na identificação etiológica (intrínseca ou extrínseca ao tecido cardíaco) bem como na forma de instalação e no caráter de reversibilidade. As causas reversíveis devem ser prontamente corrigidas e são essenciais na estabilização do doente. Na presença de bradicardia, a apresentação clínica deve guiar a abordagem inicial, assim como a existência de sinais de gravidade no electrocardiograma. A terapêutica farmacológica e o pacing transcutâneo são medidas/atitudes intermédias de suporte hemodinâmico como ponte para intervenções especializadas. Assim, uma correta avaliação e rápida abordagem em ambiente pré-hospitalar ou hospitalar possibilita a estabilização do doente e posterior encaminhamento para estudo dirigido.
- CRUSADE: Is it still a good score to predict bleeding inacute coronary syndrome?Publication . Bento, D.; Marques, N.; Guedes, J.; Azevedo, Pedro; Amado, José; Santos, W.; Bispo. J.; Mimoso, J.; Jesus, I.; Silva, D.Introduction: Major bleeding is a serious complication of acute coronary syndrome (ACS) andis associated with a worse prognosis. The CRUSADE bleeding score is used to stratify the risk ofmajor bleeding in ACS.Objective: To assess the predictive ability of the CRUSADE score in a contemporary ACS popu-lation.Methods: In a single-center retrospective study of 2818 patients admitted with ACS, the CRU-SADE score was calculated for each patient and its discrimination and goodness of fit wereassessed by the area under the receiver operating characteristic curve (AUC) and by the Hosmer-Lemeshow test, respectively. Predictors of in-hospital major bleeding (IHMB) were determined.Results: The IHMB rate was 1.8%, significantly lower than predicted by the CRUSADE score (7.1%,p<0.001). The incidence of IHMB was 0.5% in the very low risk category (rate predicted by thescore 3.1%), 1.5% in the low risk category (5.5%), 1.6% in the moderate risk category (8.6%),5.5% in the high risk category (11.9%), and 4.4% in the very high risk category (19.5%). Thepredictive ability of the CRUSADE score for IHMB was only moderate (AUC 0.73).The in-hospital mortality rate was 4.0%. Advanced age (p=0.027), femoral vascular access(p=0.004), higher heart rate (p=0.047) and ticagrelor use (p=0.027) were independent predictorsof IHMB.Conclusions: The CRUSADE score, although presenting some discriminatory power, significantlyoverestimated the IHMB rate, especially in patients at higher risk. These results questionwhether the CRUSADE score should continue to be used in the stratification of ACS.
- Functional analysis of two novel TBX5 variants present in individuals with Holt-Oram syndrome with different clinical manifestationsPublication . Varela, Debora; Varela, Tatiana; Conceição, Natércia; Ferreira, Angela; Marques, Nuno; Silva, Ana Paula; Azevedo, Pedro; Pereira, Salome; Camacho, Ana; de Jesus, Ilidio; Cancela, M. LeonorHolt-Oram syndrome (HOS) is a rare disorder characterized by cardiac and upper-limb defects. Pathogenic variants in TBX5-a gene encoding a transcription factor important for heart and skeletal development-are the only known cause of HOS. Here, we present the identification and functional analysis of two novel TBX5 pathogenic variants found in two individuals with HOS presenting distinct phenotypes. The individual with the c.905delA variant has a severe cardiac phenotype but mild skeletal defects, unlike the individual with the c.246_249delGATG variant who has no cardiac problems but severe upper limbs malformations, including phocomelia. Both frameshift variants, c.246_249delGATG and c.905delA, generate mRNAs harbouring premature stop codons which, if not degraded by nonsense mediated decay, will lead to the production of shorter TBX5 proteins, p.Gln302Argfs*92 and p.Met83Phefs*6, respectively. Immunocytochemistry results suggest that both mutated proteins are produced and furthermore, like the wild-type protein, p.Gln302Argfs*92 mutant appears to be mainly localized in the nucleus, in contrast with p.Met83Phefs*6 mutant that displays a higher level of cytoplasmic localization. In addition, luciferase activity analysis revealed that none of the TBX5 mutants are capable of transactivating the NPPA promoter. In conclusion, our results provide evidence that both pathogenic variants cause a severe TBX5 loss-of-function, dramatically reducing its biological activity. The absence of cardiac problems in the individual with the p.Met83Phefs*6 variant supports the existence of other mechanisms/genes underlying the pathogenesis of HOS and/or the existence of an age-related delay in the development of a more serious cardiac phenotype. Further studies are required to understand the differential effects observed in the phenotypes of both individuals.
- Mortality predictors in patients with takotsubo cardiomyopathyPublication . Bebiana Faria, B.; Marmelo, B.; Azevedo, Pedro; Ruivo, C.; Santos, R.; Gomes, A.; Vieira, M.; Teles, L.; Marreiros, Ana; Almeida, A.; Calvo, L.; Portugues, J.Takotsubo cardiomyopathy (TC) is characterized by transient left ventricular dysfunction in the absence of artery coronary disease. The prognosis is generally favorable but there are cases of death. TC is a rare disease with a low number of events and because of that, there are few studies that describe mortality predictors.
- p.G360R is a pathogenic GLA gene mutation responsible for a classic phenotype of Fabry diseasePublication . Carvalho Silva, Daniela; Marques, Nuno; Azevedo, Olga; Miltenberger-Miltenyi, Gabriel; Bento, Dina; Guedes, Joao; Azevedo, Pedro; Bispo, Joao; Mota, Teresa; Fernandes, Raquel; Nzwalo, Hipólito; Cabrita, Ana; Ramos, André; de Jesus, IlidioThe authors report the case of a classic phenotype of Fabry disease in a 60-year-old male patient presenting with left ventricular hypertrophy and stroke. Genetic analysis revealed 2 GLA-gene variants, i.e., p.R356Q and p.G360R. This clinical case highlights that the finding of 2 or more GLA gene variants in a Fabry patient should lead to a careful evaluation in order to determine their exact role in the condition. This case also provides the first clinical evidence that the p.G360R mutation is pathogenic and responsible for a classic phenotype of Fabry disease. The clinical improvement following the initiation of enzyme replacement therapy reinforces the importance of Fabry disease awareness and diagnosis in patients exhibiting red flags, such as left ventricular hypertrophy and stroke.
- Screening of Lysosomal acid lipase deficiency in patients with severe dyslipidemia and premature coronaryheart diseasePublication . Azevedo, O.; Marques, N.; Antunes, H.; Azevedo, Pedro; Oliveira, M.; Bento, D.; Guedes, J.; Marmelo, B.; Faria, R.; Correia, E.Objectives: To determine the prevalence of Lysosomal Acid Lipase (LAL) deficiency in patients with severe dyslipidemia and premature coronary heart disease.
- Taquidisritmias supraventriculares:abordagem em contexto pré e intra-hospitalarPublication . Costa, Hugo; Azevedo, Pedro; Carvalho, Daniela; Candeias, Rui; de Jesus, IlídioAs taquidisritmias supraventriculares (TSV) são relativamente frequentes, constituem um grupo heterogéneo de arritmias e o seu diagnóstico diferencial é muitas vezes difícil na prática clínica. Apresentam clínica variável que depende da gravidade do evento arrítmico, das comorbilidades associadas bem como das características inerentes ao própriodoente. Embora a maioria das TSV se apresente com complexos QRS estreitos e as taquicardias ventriculares (TV) com complexos QRS largos, isto nem sempre acontece, sendo essencial uma cuidadosa avaliação para um diagnóstico correto.