Browsing by Author "Borges, L"
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- Derrame Pericárdico Recidivante. Um Caso de Angiosarcoma CardíacoPublication . Marcão, I; Fonseca, P; Pereira, MS; Ramos, A; Fontes, L; Amorim, H; Marques, C; Borges, LA case of angiosarcoma of the right atrium in a 59-year-old woman is reported, presenting as a recurrent hematic pericardial effusion. The usefulness of echocardiography in making the diagnosis is emphasized. The tumor was already disseminated at the time of the diagnosis. The patient was on palliative therapy, dying a few months later. The histological examination was done at autopsy. This case highlights the difficulty in diagnosis and the various modalities available for an accurate diagnosis of a rare clinical entity. It has a rapid and aggressive course with a very poor prognosis.
- Hidradenocarcinoma do Escroto com Metastização GanglionarPublication . Simões, MI; Marcão, I; Toscano, M; Borges, LO hidradenocarcinoma é uma neoplasia rara das células écrinas das glândulas sudoríparas, geralmente assintomática e de crescimento lento, com maior incidência entre os 50 e os 80 anos, atingindo ambos os sexos e com localização preferencial nas regiões palmar, plantar, frontal, axilar e nuca. Tem um comportamento agressivo, com alta taxa de recorrência local e metastização à distância, associando-se a mau prognóstico. Apresentamos um caso raro de hidradenocarcinoma do escroto manifestado por metastização ganglionar justificando exercício de diagnóstico diferencial clínico e histológico de adenopatia inguinal num adulto jovem.
- Rett Syndrome With and Without Detected MECP2 Mutations: an Attempt to Redefine PhenotypesPublication . Temudo, T; Santos, M; Ramos, E; Dias, K; Vieira, JP; Moreira, A; Calado, E; Carrilho, I; Oliveira, G; Levy, A; Barbot, C; Fonseca, M; Cabral, A; Cabral, P; Monteiro, J; Borges, L; Gomes, R; Mira, G; Pereira, SA; Santos, M; Fernandes, A; Epplen, JT; Sequeiros, J; Maciel, PBackground: The diagnosis of Rett syndrome (RTT) is based on a set of clinical criteria, irrespective of mutation status. The aims of this study were (1) to define the clinical differences existing between patients with Rett syndrome with (Group I) and without a MECP2 mutation (Group II), and (2) to characterize the phenotypes associated with the more common MECP2 mutations. Patients and Methods: We analyzed 87 patients fulfilling the clinical criteria for RTT. All were observed and videotaped by the same paediatric neurologist. Seven common mutations were considered separately, and associated clinical features analysed. Results: Comparing Group I and II, we found differences concerning psychomotor development prior to onset, acquisition of propositive manipulation and language, and evolving autistic traits. Based on age at observation, we found differences in eye pointing, microcephaly, growth, number of stereotypies, rigidity, ataxia and ataxic-rigid gait, and severity score. Patients with truncating differed from those with missense mutations regarding acquisition of propositive words and independent gait, before the beginning of the disease, and microcephaly, growth, foot length, dystonia, rigidity and severity score, at the time of observation. Patients with the R168X mutation had a more severe phenotype, whereas those with R133C showed a less severe one. Patients with R294X had a hyperactive behaviour, and those with T158M seemed to be particularly ataxic and rigid. Conclusion: A clear regressive period (with loss of prehension and language, deceleration of growth) and the presence of more than three different stereotypies, rigidity and ataxic-rigid gait seemed to be very helpful in differentiating Group I from Group II.