Zobrazeno 1 - 10
of 101
pro vyhledávání: '"Olga, Azevedo"'
Autor:
Giancarlo Parenti, Simona Fecarotta, Marianna Alagia, Federica Attaianese, Alessandra Verde, Antonietta Tarallo, Vincenza Gragnaniello, Athanasia Ziagaki, Maria Jose’ Guimaraes, Patricio Aguiar, Andreas Hahn, Olga Azevedo, Maria Alice Donati, Beata Kiec-Wilk, Maurizio Scarpa, Nadine A. M. E. van der Beek, Mireja Del Toro Riera, Dominique P. Germain, Hidde Huidekoper, Johanna M. P. van den Hout, Ans T. van der Ploeg, and the MetabERN Subnetwork for Lysosomal Disorders
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-23 (2024)
Abstract Clinical pathway recommendations (CPR) are based on existing guidelines and deliver a short overview on how to deal with a specific diagnosis, resulting therapy and follow-up. In this paper we propose a methodology for developing CPRs for Po
Externí odkaz:
https://doaj.org/article/ef4620eaa39f4a08bbe3b14b878a0993
Autor:
Mariana Gomes Tinoco, Margarida Castro, Luísa Pinheiro, Tamara Pereira, Margarida Oliveira, Sílvia Ribeiro, Nuno Ferreira, Olga Azevedo, António Lourenço
Publikováno v:
Monaldi Archives for Chest Disease (2024)
An 18-year-old male presented with syncope during a training break. Post-syncope, he developed effort dyspnea, which he associated with the Pfizer-BioNTech COVID-19 vaccine received a week earlier. Electrocardiogram showed T inversion in V1-V3, III,
Externí odkaz:
https://doaj.org/article/f7471a4aa73349a1b0cc69ae1064f131
Autor:
Nerea Mora-Ayestaran, MD, Angela Dispenzieri, MD, Arnt V. Kristen, MD, Mathew S. Maurer, MD, Igor Diemberger, MD, Brian M. Drachman, MD, Martha Grogan, MD, Pritam Gupta, PhD, Oliver Glass, PhD, Leslie Amass, PhD, Pablo Garcia-Pavia, MD, PhD, Michele Emdin, Mazen Hanna, Olga Azevedo, Calogero Lino Cirami, Jose Gonzalez Costello, David Slosky, Henning Moelgaard, Jose Nativi Nicolau, Scott Hummel, Eun-Seok Jeon, Nowell Fine, Srinivas Murali, Edward Miller, Sanjiv Shah, Ronald Witteles, Marcia Waddington-Cruz, Daniel Lenihan, Yoshiki Sekijima, Johan Van Cleemput, Edileide de Barros Correia, Eve Cariou, Dianna Quan, Miriam Freimer, David Steidley, Anna Hüsing-Kabar, Violaine Plante-Bordeneuve, Hans Nienhuis, Jonas Wixner, Jeffrey Ralph, Hector Ventura, Sasa Zivkovic, Diego Delgado, Roberto Fernandéz Torrón, Stephen Gottlieb, William Cotts, Jose Tallaj, Robert Brunkhorst, Michael Polydefkis, Christopher Mueller, Carsten Tschoepe, Juan Gonzalez Moreno, Nitasha Sarswat, Jin Luo, James Tauras, Alberta Warner
Publikováno v:
JACC: Advances, Vol 3, Iss 8, Pp 101086- (2024)
Background: Wild-type transthyretin amyloidosis (ATTRwt amyloidosis) is primarily diagnosed in elderly men but diagnoses in younger patients and women have recently increased. Objectives: The purpose of this study was to examine age- and sex-related
Externí odkaz:
https://doaj.org/article/dc542adf430b4e7fb29d0bce4d17c600
Autor:
Ana Margarida Medeiros, Ana Catarina Alves, Beatriz Miranda, Joana Rita Chora, Mafalda Bourbon, Quitéria Rato, Ana Catarina Gomes, Ana Cristina Ferreira, Ana Gaspar, Ana Margarida Marques, Ana Maria Garabal, Ana Paula Bogalho, Ana Rita Pereira, Anabela Raimundo, André Travessa, Andreia Lopes, António Afonso, António Furtado, António Guerra, António Monteiro, António Trindade, Armindo Ribeiro, Bernardo Dias Pereira, Bernardo Marques, Carla Laranjeira, Catarina Senra Moniz, Cecília Frutuoso, Cláudia Falcão Reis, Cláudia Rodrigues, Clementina Fernandes, Conceição Ferreira, Daniel Ferreira, Diogo Torres, Elisabete Martins, Elsa Gaspar, Fabiana Pimentel, Fernando Simões, Francisco Araújo, Francisco Silva, Goreti Lobarinhas, Graça Morais, Guida Gama, Guilherme Lourenço, Helena Mansilha, Helena Pereira, Heloísa Santos, Henedina Antunes, Inês Batista Gomes, Inês Colaço, Isabel Azevedo, Isabel Palma, João Anselmo, João Porto, João Ramos, João Sequeira Duarte, Jorge Pintado Alves, José Miguel Salgado, José Pereira de Moura, Leonor Sassetti, Lina Cardoso Ramos, Luísa Diogo Matos, Luísa Mota Vieira, Luísa Pires, Márcio de Moura, Margarida Bruges, Margarida Venâncio, Maria do Rosário Barroso, Maria João Virtuoso, Maria Luísa Gonçalves, Mário Martins Oliveira, Mendes Nunes, Miguel Costa, Miguel Mendes, Miguel Toscano Rico, Mónica Tavares, Natalina Miguel, Oana Moldovan, Olga Azevedo, Patrícia Lipari Pinto, Patrícia Pais, Patrícia Vasconcelos, Paula Garcia, Paula Martins, Pedro Marques da Silva, Piedade Lemos, Raquel Coelho, Raquel Gouveia da Silva, Raquel Ribeiro, Rita Jotta de Oliveira, Roberto Pinto, Sandra Pereira, Sérgio Ferreira Cristina, Sílvia Sequeira, Susana Correia, Tânia Vassalo, Tiago Pack, Vânia Martins, Vera Frazão Vieira
Publikováno v:
Journal of Lipid Research, Vol 65, Iss 2, Pp 100490- (2024)
Familial hypercholesterolemia (FH) is a common genetic disorder of lipid metabolism caused by pathogenic/likely pathogenic variants in LDLR, APOB, and PCSK9 genes. Variants in FH-phenocopy genes (LDLRAP1, APOE, LIPA, ABCG5, and ABCG8), polygenic hype
Externí odkaz:
https://doaj.org/article/68a8ff206df9455cbff0bf939698e1bb
Autor:
Bruna Coelho-Ribeiro, Helena G. Silva, Belém Sampaio-Marques, Alexandra G. Fraga, Olga Azevedo, Jorge Pedrosa, Paula Ludovico
Publikováno v:
Cells, Vol 13, Iss 8, p 654 (2024)
Fabry Disease (FD) is one of the most prevalent lysosomal storage disorders, resulting from mutations in the GLA gene located on the X chromosome. This genetic mutation triggers glo-botriaosylceramide (Gb-3) buildup within lysosomes, ultimately impai
Externí odkaz:
https://doaj.org/article/73d525dfbc824cf88540d3c43327ce75
Autor:
Ana Filipa Cardoso, Tamara Pereira, Filipa Cordeiro, Marina Fernandes, Olga Azevedo, António Lourenço
Publikováno v:
Arquivos Brasileiros de Cardiologia, Vol 120, Iss 3 (2023)
Externí odkaz:
https://doaj.org/article/79310799675145c792b2fa09b290373d
Autor:
Margarida Oliveira, Olga Azevedo, Bebiana Faria, Pedro von Hafe, Geraldo Dias, Ricardo Faria, Victor Sanfins, Mário Lourenço, Gabriel Miltenberger-Miltenyi, António Lourenço
Publikováno v:
Revista Portuguesa de Cardiologia, Vol 41, Iss 3, Pp 253-259 (2022)
Left ventricular noncompaction (LVNC) is a genetically heterogeneous cardiomyopathy, with familial and sporadic forms, but genetic testing only identifies a pathogenic mutation in a minority of cases. The main complications are heart failure, embolis
Externí odkaz:
https://doaj.org/article/2ff053aa652d41c28130404ad6d7fc4e
Autor:
Pedro von Hafe Leite, Olga Azevedo, Geraldo Dias, Filipa Cardoso, Tamara Pereira, António Lourenço
Publikováno v:
Arquivos Brasileiros de Cardiologia, Vol 117, Iss 1 suppl 1, Pp 29-32 (2021)
Externí odkaz:
https://doaj.org/article/45213064ad604515a998db04e4a2684f
Autor:
Olga Azevedo, Nuno Marques, Nuno Craveiro, Ana Rita Pereira, Hugo Antunes, Liliana Reis, Rui Azevedo Guerreiro, Rui Pontes dos Santos, Gabriel Miltenberger-Miltenyi, Nuno Sousa, Damião Cunha
Publikováno v:
Revista Portuguesa de Cardiologia, Vol 38, Iss 10, Pp 709-716 (2019)
Introduction and Aim: It is unclear whether left ventricular noncompaction (LVNC) is a distinct cardiomyopathy or a morphologic manifestation of different cardiomyopathies. We previously reported a case of LVNC in a Fabry disease (FD) patient, but it
Externí odkaz:
https://doaj.org/article/ae43fa2b292848e09824e8bb9ff2c1b6
Autor:
Dina Bento, Olga Azevedo, Rui Santos, Ana Almeida, Kevin Domingues, Bruno Marmelo, Liliana Reis, Catarina Ruivo, Rui Guerreiro, Rui Lima, Ricardo Faria, Ana Marreiros, Nuno Marques
Publikováno v:
Revista Portuguesa de Cardiologia, Vol 38, Iss 5, Pp 349-357 (2019)
Introduction: Takotsubo syndrome (TTS) is characterized by transient left ventricular (LV) systolic dysfunction. Aim: To characterize a Portuguese population with TTS and to determine their short- and medium-term prognosis. Methods: We conducted a mu
Externí odkaz:
https://doaj.org/article/cc99f64d78414b5f8e5f3c238afe989d