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Browsing by Author "Sousa, M"

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  • Alcohol Consumption Post-Liver Transplantation: a Cross-Sectional Study
    Publication . Chálim Rebelo, C; Félix, C; Sousa Cardoso, F; Bagulho, L; Sousa, M; Mendes, M; Glória, H; Mateus, É; Mega, I; Jara, M; Pinto Marques, H; Nolasco, F; Martins, A; Perdigoto, R
    Background: Listing patients with alcohol-associated liver disease (ALD) for liver transplant (LT) remains challenging especially due to the risk of alcohol resumption post-LT. We aimed to evaluate post-LT alcohol consumption at a Portuguese transplant center. Methods: We conducted a cross-sectional study including LT recipients from 2019 at Curry Cabral Hospital, Lisbon, Portugal. A pretested survey and a validated Portuguese translation of the Alcohol Use Disorder Identification Test (AUDIT) were applied via a telephone call. Alcohol consumption was defined by patients' self-reports or a positive AUDIT. Results: In 2019, 122 patients underwent LT, and 99 patients answered the survey (June 2021). The mean (SD) age was 57 (10) years, 70 patients (70.7%) were males, and 49 (49.5%) underwent ALD-related LT. During a median (IQR) follow-up of 24 (20-26) months post-index LT, 22 (22.2%) recipients consumed any amount of alcohol: 14 had a drink monthly or less and 8 drank 2-4 times/month. On drinking days, 18 patients usually consumed 1-2 drinks and the remainder no more than 3-4 drinks. One patient reported having drunk ≥6 drinks on one occasion. All post-LT drinking recipients were considered low risk (score <8) as per the AUDIT score (median [IQR] of 1 [1-2]). No patient reported alcohol-related problems, whether self-inflicted or toward others. Drinking recipients were younger (53 vs. 59 years, p = 0.020), had more non-ALD-related LT (72.7 vs. 44.2%, p = 0.018) and active smoking (31.8 vs. 10.4%, p = 0.037) than abstinent ones. Conclusion: In our cohort, about a quarter of LT recipients consumed alcohol early posttransplant, all with a low-risk pattern according to the AUDIT score.
    2023Journal article Open access Show more
  • A Case of Kawasaki Disease in Portugal
    Publication . Proença, R; Sousa, M; Vakil, K; Sequeira, M; Sykes, A; Marques, I; Malhado, J
    This case report is believed to be the first case of Kawasaki disease in Portugal. An otherwise healthy 20 years old female was carefully examined and diagnosis of mucocutaneous lyrnphnode syndrome estab lished, based on: typical clinical picture, exclusion of other mimicking situations and middle term evolution of this patient. The A. A. wish to emphasize their diagnosis complied on C. D. C. criteria for Kawasaki disease. A short up dated briefing on this peculiar entity and geographycal pathology are included in this article.
    1983Journal article Open access Show more
  • Feocromocitoma Associado à Neurofibromatose de Von Recklinghausen Tipo 1: um Caso Clínico Raro
    Publication . Jorge, V; Pires da Silva, I; Sousa, M; Noronha, C; Riscado, M
    Os feocromocitomas são neoplasias originárias das células cromafins da crista neural localizados, na sua grande maioria, na medula supra-renal, podendo também aparecer nos gânglios simpáticos (paragangliomas). Ocorrem de forma esporádica em 90% dos casos; contudo, em cerca de 10% são um componente de síndromes neoplásicas de transmissão autossómica dominante, como a doença de von Hippel-Lindau, a neoplasia endócrina múltipla tipo 2 (MEN 2) e, mais raramente, associados à Neurofibromatose de von Recklinghausen tipo I (3-5%). A este propósito, os autores apresentam o caso de um homem de 54 anos, com uma história pessoal e familiar de Neurofibromatose de von Recklinghausen tipo I em que foi detectado um tumor da supra-renal direita, assintomátic(“incidentaloma”), cuja investigação posterior comprovou ser um feocromocitoma produtor de elevados níveis de epinefrina e nor-epinefrina. Apesar do padrão secretório de catecolaminas apresentado, foi confirmada, por pressurometria de 24 horas, a existência de normotensão e ausência de história familiar de hipertensão arterial, factos igualmente pouco comuns. Discutem-se alguns dos mecanismos patogénicos envolvidos nestas entidades sindromáticas tumorais, bem como o seu comportamento clínico; salienta-se, igualmente, a importância do rastreio oncológico sistemático, nomeadamente de feocromocitomas, em familiares de indivíduos portadores deste tipo de neoplasia autossómica dominante, mesmo que assintomáticos.
    2011Journal article Open access Show more
  • LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypes
    Publication . Oliveira, J; Gruber, A; Cardoso, M; Taipa, R; Fineza, I; Gonçalves, A; Laner, A; Winder, TL; Schroeder, J; Rath, J; Oliveira, ME; Vieira, E; Sousa, AP; Vieira, JP; Lourenço, T; Almendra, L; Negrão, L; Santos, M; Melo-Pires, M; Coelho, T; den Dunnen, JT; Santos, R; Sousa, M
    Congenital muscular dystrophy type 1A (MDC1A) is one of the main subtypes of early-onset muscle disease, caused by disease-associated variants in the laminin-α2 (LAMA2) gene. MDC1A usually presents as a severe neonatal hypotonia and failure to thrive. Muscle weakness compromises normal motor development, leading to the inability to sit unsupported or to walk independently. The phenotype associated with LAMA2 defects has been expanded to include milder and atypical cases, being now collectively known as LAMA2-related muscular dystrophies (LAMA2-MD). Through an international multicenter collaborative effort, 61 new LAMA2 disease-associated variants were identified in 86 patients, representing the largest number of patients and new disease-causing variants in a single report. The collaborative variant collection was supported by the LOVD-powered LAMA2 gene variant database (https://www.LOVD.nl/LAMA2), updated as part of this work. As of December 2017, the database contains 486 unique LAMA2 variants (309 disease-associated), obtained from direct submissions and literature reports. Database content was systematically reviewed and further insights concerning LAMA2-MD are presented. We focus on the impact of missense changes, especially the c.2461A > C (p.Thr821Pro) variant and its association with late-onset LAMA2-MD. Finally, we report diagnostically challenging cases, highlighting the relevance of modern genetic analysis in the characterization of clinically heterogeneous muscle diseases.
    2018Journal article Open access Show more
  • New Insights about Pulmonary Epithelioid Hemangioendothelioma: Review of the Literature and Two Case Reports
    Publication . Mesquita, R; Sousa, M; Trinidad, C; Pinto, E; Badiola, I
    Pulmonary epithelioid hemangioendothelioma (PEH) is a rare neoplasm of vascular origin. There are three different major imaging patterns identified in thoracic manifestation of epithelioid hemangioendothelioma: (1) multiple pulmonary nodules; (2) multiple pulmonary reticulonodular opacities; and (3) diffuse infiltrative pleural thickening. Radiographically, presence of bilateral multiple nodules is the most common pattern of presentation. The diagnosis is made on the basis of histopathological findings and confirmed by positive immunohistochemistry staining. Although the prognostic factors for PEH have not yet been well established, a better prognosis is usually associated with the multinodular pattern. We report two different imagological presentations of this rare disease, based on two institutional experiences, along with a review of the relevant literature.
    2017Journal article Open access Show more
  • Radioembolização de Metástases Hepáticas de Carcinoma Colorretal. Um Estudo Retrospetivo de 9 Anos numa Instituição oncológica
    Publication . Costa, M; Ferreira, B; Sousa, M; Costa, N; Castelo-Branco, M; Gonçalves, B
    Introdução: O papel da radioembolização (RE) de metástases hepáticas de carcinoma colorretal (mhCCR) permanece indefinido. O presente estudo pretende avaliar os resultados e possíveis fatores de prognóstico da RE nestes pacientes. Metodologia: Foi realizada uma análise retrospetiva de todos os doentes com mhCCR quimiorrefratárias e irressecáveis submetidos a RE numa instituição, desde janeiro de 2011 a março de 2020. A sobrevida a um ano foi determinada pelo método de Kaplan-Meier; para avaliação de fatores de prognóstico foram usados os testes log-Rank, Qui-quadrado, Fisher, Mann-Whitney e teste-t. Resultados: Foram avaliados 30 pacientes. A idade média foi de 61,5 anos e a maioria dos doentes eram do sexo masculino (63,3%). A dor abdominal foi a complicação mais frequente (40%). O sucesso da RE (definido pela resposta tomográfica, segundo os critérios RECIST 1.1, como parcial, completa ou estável, aos três meses de seguimento) foi observado em 50% dos casos. Um estádio ≤ 3 (p<0,040), níveis de CEA < 20 ng/mL no momento do diagnóstico (p=0,035) e após a RE (p=0,023), e ausência de invasão vascular (p=0,028) ou linfática (p=0,020) na peça cirúrgica do tumor primário, bem como um tempo livre de metastização superior a um ano desde o diagnóstico (p=0,036) foram significativamente associados ao sucesso da RE. O tempo médio de sobrevivência de pacientes com e sem sucesso na RE foi de 9,4 e 8,9 meses, respetivamente. Conclusão: A RE é uma terapêutica bem-tolerada, com resultados objetivos em metade dos pacientes tratados e com um aumento não significativo da sobrevivência dos doentes. Existem fatores de prognóstico de resposta à RE que foram identificados e que podem ajudar a selecionar melhor os doentes a tratar.
    2021Journal article Open access Show more
  • The Dark Side of SAPHO Syndrome
    Publication . Coelho Henriques, C; Sousa, M; Panarra, A; Riso, N
    SAPHO syndrome (synovitis, acne, pustulosis, hyperostosis and osteitis) is a relatively rare entity. The therapeutic approach of patients with SAPHO syndrome has included multiple drugs with varying success and incoherence responses. The therapy is still empirical today. SAPHO syndrome is commonly treated with non-steroidal anti-inflammatory drugs, bisphophonates and non-biologic disease modifying antirheumatic drugs. Recent reports showed successful treatment with tumour necrosis factor α (TNF α) antagonists, but there is still a dark side of SAPHO syndrome including a subgroup of patient's refractory to all the treatments that have been empirically experienced. A clinical report of a patient with SAPHO syndrome with 12 years of evolution is described. All the therapeutic approaches, including anti TNF α therapy, have not prevented the clinical and radiographic progression of the disease. Given that the disease affects mostly younger patients, new therapeutic strategies are necessary in order to avoid potentially irreversible joint and bone lesions.
    2011-12-21Journal article Open access Show more
  • The Importance of Graft Kidney Biopsy: a Case of Proteinuria One Week After Transplantation
    Publication . Sousa, M; Falcão, L; Calça, R; Góis, M; Viana, H; Nolasco, F
    2020Journal article Open access Show more