Chest Pain: The Need to Consider Less Frequent Diagnosis

Autor: Pedro Magalhães, Anabela Morais, Sofia Carvalho, Joana Cunha, Ana R. Lima, J. Ilídio Moreira, Trigo Faria

Publikováno v: Case Reports in Cardiology, Vol 2016 (2016)

Chest pain is one of the most frequent patient’s complaints. The commonest underlying causes are well known, but, sometimes, in some clinical scenarios, it is necessary to consider other diagnoses. We report a case of a 68-year-old Caucasian male,

Externí odkaz: https://doaj.org/article/0e40dd43c1de41fe98ddfa5f030534d3

Biomarkers and genetic modulators of cerebral vasculopathy in sub-Saharan ancestry children with sickle cell anemia

Autor: Alexandra Dias, Anabela Morais, Rita Santos Silva, Emanuel Ferreira, Andreia Coelho, Joana Mendonça, João Lavinha, Teresa Ferreira, Isabel Soares, Sofia Vargas, Paula Kjöllerström, Luís Vieira, Raquel Ciuvalschi Maia, Paula Faustino, Marisa Silva

Publikováno v: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)

© 2020 Elsevier Inc. All rights reserved.
We investigated biomarkers and genetic modulators of the cerebral vasculopathy (CV) subphenotype in pediatric sickle cell anemia (SCA) patients of sub-Saharan African ancestry. We found that one VCAM1 p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea2a234f232fc4a25a9f211178d36a4e
https://hdl.handle.net/10400.17/3539

Variants in the non-coding region of the TLR2 gene associated with infectious subphenotypes in pediatric sickle cell anemia

Autor: João Lavinha, Susana David, Liliana Antunes, Anavaj Sakuntabhai, Anabela Morais, Pedro Aguiar, Alexandra Dias

Publikováno v: Immunogenetics
Immunogenetics, Springer Verlag, 2018, 70 (1), pp.37-51. ⟨10.1007/s00251-017-1013-7⟩
Immunogenetics, 2018, 70 (1), pp.37-51. ⟨10.1007/s00251-017-1013-7⟩

Sickle cell anemia (SCA) is characterized by chronic hemolysis, severe vasoocclusive crises (VOCs), and recurrent often severe infections. A cohort of 95 SCA pediatric patients was the background for genotype-to-phenotype association of the patient's

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d00f864528e4a8f41871d67c98119ff
https://hdl.handle.net/10400.18/4785

A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive megaloblastic anaemia

Autor: Lieve Gj Leijssen, Maha Sherif, Khalid Hussain, Anabela Morais, Sophia Tahir, Carla Pereira

Publikováno v: International Journal of Pediatric Endocrinology

Thiamine-responsive megaloblastic anaemia (TRMA) is a rare syndrome where patients present with early onset diabetes mellitus, megaloblastic anaemia and sensorineural deafness. This report describes a new case of TRMA syndrome in a female patient of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da3d52e5edecdb77c13815761b6994fc
http://europepmc.org/articles/PMC4397709

Um Caso Invulgar de Doença Hemolíticca do Recém-Nascido

Autor: Carla Pereira, Anabela Ferrão, José E. Mauricio, Fátima Nascimento, Lincoln Justo da Silva, Anabela Morais

Publikováno v: Portuguese Journal of Pediatrics (former Acta Pediátrica Portuguesa); Vol. 35 No. 5/6 (2004); Pag. 513-516
Portuguese Journal of Pediatrics; vol. 35 n.º 5/6 (2004); Pag. 513-516
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Acta Pediátrica Portuguesa; v. 35, n. 5/6 (2004); Pag. 513-516
Portuguese Journal of Pediatrics, Vol 35, Iss 5/6 (2014)

A doença hemolitica do recém-nascido é uma entidade bem conhecida, causada pela passagem transplancetária de anticorpos maternos dirigidos contra antigénios do eritrócito fetal, levando a um aumento da destruição dos mesmos. São conhecidos m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2188c3809f5fd7089bef3cf65b54b3a0