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Systematic SARS-CoV-2 S-gene sequencing in wastewater samples enables early lin...

Reis, Ana C.; Pinto, Daniela; Monteiro, Sílvia; Santos, Ricardo; Martins, João Vieira; Sousa, Alexandra; Páscoa, Rute; Lourinho, Rita; Cunha, Mónica V.

As the COVID-19 pandemic reached its peak, many countries implemented genomic surveillance systems to track the evolution and transmission of SARS-CoV-2. Transition from the pandemic to the endemic phase prioritized alternative testing strategies to maintain effective epidemic surveillance at the population level, with less intensive sequencing efforts. One such promising approach was Wastewater-Based Surveilla...


Recomendações para a realização de testes genéticos em cardiologia – revisão da...

Sousa, Alexandra; Moldovan, Oana Teodora; Lebreiro, Ana; Bourbon, Mafalda; António, Natália; Rato, Quitéria; Rodrigues, Patrícia; Toste, Alexandra

Nos últimos anos, tem sido crescente o reconhecimento das causas genéticas das doenças cardiovasculares resultado dos significativos progressos das técnicas laboratoriais. Este conhecimento tem permitido a identificação de «novos» fenótipos e a subclassificação das síndromes clínicas, tendo impacto nas decisões terapêuticas e no aconselhamento genético que é facultado às famílias. No presente documento descreve...


Recomendações para a realização de testes genéticos em cardiologia – revisão da...

Sousa, Alexandra; Moldovan, Oana; Lebreiro, Ana; Bourbon, Mafalda; António, Natália; Rato, Quitéria; Rodrigues, Patrícia; Toste, Alexandra

In recent years, the importance of genetic causes of cardiovascular diseases has been increasingly recognized, as the result of significant advances in molecular diagnosis techniques. This growing knowledge has enabled the identification of new phenotypes and the subclassification of clinical syndromes, impacting the therapeutic approach and genetic counseling offered to affected families. This paper describes ...


Recomendações para a realização de testes genéticos em cardiologia - revisão da...

Sousa, Alexandra; Moldovan, Oana; Lebreiro, Ana; Bourbon, Mafalda; António, Natália; Rato, Quitéria; Rodrigues, Patrícia; Toste, Alexandra

Nos últimos anos, tem sido crescente o reconhecimento das causas genéticas das doenças cardiovasculares resultado dos significativos progressos das técnicas laboratoriais. Este conhecimento tem permitido a identificação de «novos» fenótipos e a subclassificação das síndromes clínicas, tendo impacto nas decisões terapêuticas e no aconselhamento genético que é facultado às famílias. No presente documento descreve...


Natural-based consumer health nanoproducts: medicines, cosmetics, and food supp...

Mota, Ana Henriques; Sousa, Alexandra; Figueira, Mariana; Amaral, Mariana; Sousa, Bruno; Rocha, João; Fattal, Elias; Almeida, António José

In recent years, the scientific community has seen increasing use of natural compounds instead of chemical compounds in medicines, food supplements, cosmetics, and dermatological products. Nanotechnology, mainly used in the cosmetic and pharmaceutical industries, has also been increasingly used. In this context the purpose of nanotechnology is to increase the stability of active compounds, to modulate their rel...


Molecular characterization of Portuguese patients with dilated cardiomyopathy

Sousa, Alexandra; Canedo, Paulo; Azevedo, Olga; Lopes, Luís; Pinho, Teresa; Baixia, Márcia; Rocha-Gonçalves, Francisco; Gonçalves, Lino

Introduction: Dilated cardiomyopathy (DCM) is a disease of the heart muscle characterized by ventricular dilatation and impaired systolic function. Familial forms account for 30-50% of cases. Autosomal dominant inheritance is the predominant pattern of transmission. Causal genetic variants have been identified in several genes and molecular diagnosis has implications for genetic counseling and risk stratificati...


Effect of a HPP pretreatment on thermal inactivation kinetics of polyphenoloxid...

Machado, Maria F.; Sousa, Alexandra; Castro, Sónia M.; Moreira, Sílvia A.; Saraiva, Jorge A.

Enzymatic browning due to the action of polyphenoloxidase (PPO) is highly undesirable and efficient methodologies to avoid/reduce it are of great interest for food industry. The effect of a pressure pretreatment (100 MPa, 15 min, room temperature) on the activity of PPO extracts obtained from three apple cultivars (Bravo de Esmolfe [BE], Reineta [RN], and Golden delicious [GD]), and subsequent thermal inactivat...


DOENÇAS RARAS DO METABOLISMO EM DOENTES COM NÃO COMPACTAÇÃO DO VENTRÍCULO ESQUERDO

Rocha, Amanda; Sousa, Alexandra; Pinho, Teresa; Madureira, António; Gonçalves, Francisco Rocha; Oliveira, João Paulo; Martins, Elisabete


ARRHYTHMIC RISK AND GENETIC VARIATIONS IN DILATED CARDIOMYOPATHY PATIENTS

Martins, Elisabete; Sousa, Alexandra; Canedo, Paulo; Campelo, Manuel; Moura, Brenda; Leite, Sérgio; Belo, Adriana; Gonçalves, Francisco Rocha


CLINICAL AND PROGNOSTIC PROFILE OF PATIENTS WITH DILATED CARDIOMYOPATHY CAUSED ...

Sousa, Alexandra; Canedo, Paulo; Moura, Brenda; Lopes, Luís; Azevedo, Olga; Amorim, Sandra; Gonçalves, Francisco Rocha; Machado, José Carlos


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