2 documents found, page 1 of 1
Portuguese consensus document for the management of alpha-1-antitrypsin deficiency
Lopes, A; Mineiro, M; Costa, F; Gomes, J; Santos, C; Antunes, C; Maia, D; Melo, R; Canotilho, M; Magalhães, E; Vicente, I; Valente, C; Gonçalves, BAlpha-1-antitrypsin deficiency (AATD) is a genetic autosomal codominant disorder caused by mutations in SERPINA1 gene. It is one of the most prevalent genetic disorders, although it remains underdiagnosed. Whereas at international level there are several areas of consensus on this disorder, in Portugal, inter-hospital heterogeneity in clinical practice and resources available have been adding difficulties in re...
Extrapulmonary tuberculosis.
Pestana, E; Telo, L; Gomes, M J; Amaral-Marques, RAlthough the respiratory tract is the major site for tuberculous lesions, all organs can be affected. The authors review the clinical files of 25 patients admitted to our Department with lung and/or pleural tuberculous disease, confirmed by bacteriology or histopathology, who simultaneously suffered from tuberculosis in other organs. We included 20 men and 5 women, aged from 10 to 74 years (mean: 37.12 years); ...