Encontrados 2 documentos, a visualizar página 1 de 1
The Diagnostic Challenge of a Rare Pulmonary Neoplasm
Oliveira, Eurico; Manuel, Paula; Alexandre, João; Campos, Ana; Simões Torres, António; Girão, FernandoPrimary pulmonary sarcomas account for less than 0.5% of all thoracic neoplasms. They’re aggressive tumors arising in mesenchymal cells from the bronchial walls, vessels or pulmonary interstitium. The authors present a patient in which the diagnostic pathway ended with the diagnosis of a primary pulmonary leiomyosarcoma. This case was a true challenge, illustrative of the difficulty associated with this type of...
A family with a rare disease.
Capelo, Joana; Soares, Carlos; Carragoso, Adelino; Ribeiro, Pedro; Girão, Fernando; Henriques, PedroFabry disease (FD) is a rare disorder resulting from mutations of the alpha-Galactosidase A lysosomal enzyme gene. Accumulation of enzyme substrates leads to multisystemic clinical manifestations and multiorgan progressive damage with high morbidity and mortality. Recombinant enzyme replacement therapy (RERT) now available aims to delay or even avoid the complications of FD. The index case was a 50-year-old man...
| Financiadores do RCAAP | |||||||
|
|
|
|
|
|
||