Encontrados 4 documentos, a visualizar página 1 de 1
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...
Hepatic granulomas in a feverish patient.
Capelo, Joana; Carragoso, AdelinoFever of unknown origin is a diagnostic challenge. When the diagnosis remains elusive despite extensive non-invasive diagnostic studies, it can be necessary to conduct more invasive procedures, such as liver biopsy. We report a male with fever of unknown origin who had tender enlarged liver and raised liver enzymes whose hepatic biopsy disclosed epithelioid granulomas, with the etiological diagnosis made by the...
Idiopathic hypoparathyroidism and systemic lupus erythematosus: a rare associat...
Carragoso, Adelino; Silva, José Roberto; Capelo, Joana; Faria, Bernardo; Gaspar, OrlandoA 20-year-old woman was admitted to our hospital after two generalized seizures with severe hypocalcemia. She was diagnosed with Idiopathic Hypoparathyroidism. In the follow-up she was diagnosed with Systemic Lupus Erythematosus (SLE) by the presentation of four criteria of the American College of Rheumatology (ACR) for SLE. This is the sixth reported case of this association. ; A 20-year-old woman was admitte...
Cryptococcosis.
Osuna, Alina; Carragoso, Adelino; Lemos, Ana; Mocho, Maria Luísa; Gaspar, OrlandoCryptococcus neoformans infection is an opportunistic infection affecting mainly patients lacking cell mediated immunity whose incidence has dramatically risen with the advent of HIV infection. This infection has rarely been reported in patients with humoral immunity deficiencies. We report two patients with Cryptococcus neoformans infection with a fatal outcome: a man with disseminated criptococcosis leading t...
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