Encontrados 5 documentos, a visualizar página 1 de 1
Musculoskeletal pain: a case of disease HbSC/alpha-thalassemia.
Vaz, Alexandra; Capelo, Joana; Martins, Borges; Henriques, PedroSickle cell disease is an inherited chronic haemolytic anaemia whose clinical manifestations arise from the tendency of the haemoglobin to polymerize and deform red blood cells into the characteristic sickle shape (HbS), with vaso-occlusive phenomena, pain and organ damage. Sickle cell anaemia, the prototype disease, is the homozygous state and represents the most severe form of sickle cell disease. A variety o...
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...
Dural sinus thrombosis.
Costa Matos, Luís; Martins, Borges; Canto-Moreira, Nuno; Gomes, Ana; Martins, Isabel; Capelo, Joana; Henriques, PedroDural sinus thrombosis is a rare condition and is often underdiagnosed. Because of its potentially lethal complications, it should always be considered in acute headache differential diagnosis. The authors present a report of two cases, both diagnosed on our department. They make an approach to clinical presentation, diagnosis and treatment of this disease. ; Dural sinus thrombosis is a rare condition and is o...
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