Browsing by Author "Calado, A"
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- Adenocarcinoma do Cólon e Polimiosite Paraneoplásica: a Importância do Programa de ReabilitaçãoPublication . Neves, AF; Calado, AO carcinoma do cólon e recto é o tumor gastrointestinal mais frequente. A polimiosite é uma doença rara, inflamatória, frequentemente idiopática, que se manifesta por diminuição da força muscular proximal. Raramente, pode associar-se a síndrome paraneoplásica. Existem diversos estudos sobre a relação entre neoplasias e dermatomiosite ou polimiosite. Contudo, a associação do adenocarcinoma do cólon e miopatias inflamatórias é uma raridade, especialmente na ausência de lesões cutâneas. Apresentamos o caso clínico de uma doente com adenocarcinoma do cólon, avaliada no serviço de urgência por quadro de polimiosite paraneoplásica, e posterior seguimento clínico em enfermaria, salientando o papel da reabilitação na vertente do doente oncológico e nesta entidade clínica em particular.
- Parvovirus B19 Infection Associated with Hemolytic Anemia and Cranial PolyneuropathyPublication . Sequeira, J; Calado, A; Dias, M; Manita, MParvovirus B19 (PB19) is a common, widespread, small, single-stranded DNA virus which has been linked with a broad spectrum of clinical illnesses, including a variety of neurological complications such as encephalitis, meningitis, myelitis, stroke, cerebellar ataxia, and neuropathy. The authors describe a case of PB19 infection associated with hemolytic anemia and cranial polyneuropathy involving the second and third cranial nerves in a 23-year-old immunocompetent woman. The diagnosis of acute PB19 infection was established with detection of positive DNA and anti-PB19 IgM antibodies in blood samples. Antiganglioside antibody studies were performed and serum anti-GD1b IgG was strongly positive. Further investigation was normal or negative, excluding other infectious or autoimmune disorders. The patient was initially treated with a 5-day course of intravenous immunoglobulin (IGIV). Because of incomplete neurological recovery, methylprednisolone was also administered 7 days after IGIV therapy initiation. Complete resolution of clinical symptoms was observed 3 months after disease onset at follow-up visit, despite the persistence of PB19 DNA and anti-PB19 IgM antibodies in serum 5 months after the initial presentation. Our report provides evidence that PB19 could affect both the central and peripheral nervous system, possibly by triggering an autoimmune mechanism that leads to autoantibody production.
- Urinary Tract Effects of HPSE2 MutationsPublication . Stuart, H; Roberts, N; Hilton, E; McKenzie, E; Daly, S; Hadfield, K; Rahal, J; Gardiner, N; Tanley, S; Lewis, M; Sites, E; Angle, B; Alves, C; Lourenço, T; Rodrigues, M; Calado, A; Amado, M; Guerreiro, N; Serras, I; Beetz, C; Varga, R; Silay, M; Darlow, J; Dobson, M; Barton, D; Hunziker, M; Puri, P; Feather, S; Goodship, J; Goodship, T; Lambert, H; Cordell, H; Saggar, A; Kinali, M; Lorenz, C; Moeller, K; Schaefer, F; Bayazit, A; Weber, S; Newman, W; Woolf, AUrofacial syndrome (UFS) is an autosomal recessive congenital disease featuring grimacing and incomplete bladder emptying. Mutations of HPSE2, encoding heparanase 2, a heparanase 1 inhibitor, occur in UFS, but knowledge about the HPSE2 mutation spectrum is limited. Here, seven UFS kindreds with HPSE2 mutations are presented, including one with deleted asparagine 254, suggesting a role for this amino acid, which is conserved in vertebrate orthologs. HPSE2 mutations were absent in 23 non-neurogenic neurogenic bladder probands and, of 439 families with nonsyndromic vesicoureteric reflux, only one carried a putative pathogenic HPSE2 variant. Homozygous Hpse2 mutant mouse bladders contained urine more often than did wild-type organs, phenocopying human UFS. Pelvic ganglia neural cell bodies contained heparanase 1, heparanase 2, and leucine-rich repeats and immunoglobulin-like domains-2 (LRIG2), which is mutated in certain UFS families. In conclusion, heparanase 2 is an autonomic neural protein implicated in bladder emptying, but HPSE2 variants are uncommon in urinary diseases resembling UFS.