Unraveling the genetic background of individuals with a clinical familial hypercholesterolemia phenotype

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

Pancreaticopleural fistula: An insidious cause of pleural effusion –case report

Autor: Fábio Murteira, Tiago Costa, Sara Barbosa Pinto, Elsa Francisco, Ana Catarina Gomes

Publikováno v: Journal of Cardiovascular and Thoracic Research, Vol 14, Iss 1, Pp 67-70 (2022)

Pancreaticopleural fistulas (PPF) are a rare etiology of pleural effusions. We describe a case of a 61-year-old man, with left chest pain with six months of progression who presented with a large volume unilateral pleural effusion. A thoracentesis wa

Externí odkaz: https://doaj.org/article/8c99007cad8d4d75be06f51775b01619

Estratégias de Revascularização em Doentes com Infarto Agudo do Miocárdio em Choque Cardiogênico – Resultados do Registo Português de Síndromes Coronárias Agudas

Autor: Sofia Alegria, Ana Marques, Ana Catarina Gomes, Ana Rita F. Pereira, Daniel Sebaiti, Gonçalo Morgado, Rita Calé, Cristina Martins, Adriana Belo, Inês Rangel, Hélder Pereira

Publikováno v: Arquivos Brasileiros de Cardiologia, Vol 116, Iss 5, Pp 867-876 (2021)

Resumo Fundamento: Em doentes com infarto agudo do miocárdio (IAM), choque cardiogênico (CC) e doença multivaso (DMV) persistem dúvidas sobre a intervenção nas artérias não responsáveis. Objetivos: 1) caracterizar a amostra de doentes com IA

Externí odkaz: https://doaj.org/article/eeed6da53dee4beaba418f10c9a8123a

AVALIAÇÃO DO CONSUMO DE SUPLEMENTOS POR PRATICANTES DE MUSCULAÇÃO EM ACADEMIAS DE OURO PRETO – MG

Autor: Ana Catarina Gomes, Sônia Maria de Figueiredo, Anelise Andrade de Souza

Publikováno v: Demetra, Vol 13, Iss 4, Pp 937-951 (2018)

In the search for aesthetic body patterns and improvement in performance, individuals have been subjected to the consumption of nutritional supplements, often indiscriminately. This study aimed to evaluate the consumption of nutritional supplements b

Externí odkaz: https://doaj.org/article/bd709edfcde64ffdbf03a4706e2d717c

Whole-genome DNA sequencing: The key to detecting a sarcomeric mutation in a ‘false genotype-negative’ family with hypertrophic cardiomyopathy

Autor: Ana Catarina Gomes, Pedro Santos Barbosa, Ana Coutinho, Inês Cruz, Maria Carmo-Fonseca, Luís Rocha Lopes

Publikováno v: Revista Portuguesa de Cardiologia, Vol 39, Iss 4, Pp 227.e1-227.e9 (2020)

The authors report the clinical and genetic investigation of a family with hypertrophic cardiomyopathy (HCM). The individuals described are three affected first-degree relatives (father, daughter and son), one affected niece and unaffected nephew and

Externí odkaz: https://doaj.org/article/4ffc1a7e83df4f01b4347a0ee2f61e9e