Browsing by Author "Martins, J"
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- Atualização e protocolo de atuação na Drepanocitose no AdultoPublication . Major, M; Porteiro, B; Costa, M; Martins, J; Silva, R
- Familial haemophagocytic lymphohistiocytosis: two case reportsPublication . Ferreira, M; Martins, J; Silvestre, C; Abadesso, C; Matias, E; Loureiro, H; Figueiredo, A; Dias, A; Almeida, HIHaemophagocytic lymphohistiocytosis (HLH) is a life threatening inflammatory syndrome, which presents a highly stimulated but ineffective immune response with severe hypercytokinaemia. HLH, primary or secondary, is characterised by prolonged fever and hepatosplenomegaly associated with pancytopenia, hypertriglyceridaemia and hypofibrinogenaemia. However, the hallmark of HLH is impaired or absent function of natural killer cells and cytotoxic T lymphocytes. HLH presents major diagnostic difficulties, since it may have an incomplete and/or late onset and with many conditions leading to the same clinical picture. When untreated, it is fatal in all primary cases and in a high percentage of acquired cases. Awareness of the clinical picture and diagnostic criteria is thus important to start life saving treatment. We describe two cases of primary HLH, with significant differences in their clinical presentation and evolution.
- Grisel syndrome, acute otitis media, and temporo-mandibular reactive arthritis: a rare association.Publication . Martins, J; Almeida, S; Nunes, P; Prata, F; Lobo, ML; Marques, JWe present a case report of a four-year-old boy with torcicollis and trismus after acute otitis media. Grisel Syndrome diagnosis in association with temporo-mandibular reactive arthritis was admitted, leading to early conservative treatment. GS should be suspected in a child presenting with torticollis after an upper respiratory tract infection or an ENT surgical procedure. The association with temporo-mandibular reactive findings is somehow rarer but not impossible, due to the close vascular communication between retropharyngeal and pterigoid spaces.
- Infección por chlamydia trachomatis en el primer año de vidaPublication . Martins, J; Luis, C; Aguiar, T; Marcos, J; Brito, MJIntroducción: En la embarazada el rastreo de Chlamydia trachomatis (C. trachomatis) es controvertido. La colonización asintomática ocurre en el 2—20%. El 40—70% de los recién-nacidos son infectados. Objetivo: Caracterizar la infección por C. trachomatis en los ni˜nos con menos de 1 a˜no de edad. Material y métodos: Estudio retrospectivo de 13 a˜nos (enero de 1997 a diciembre de 2009) de las infecciones diagnosticadas en lactantes por immunofluorescencia del raspado ocular o inmunoglobulina M sérica. Se analizaron datos demográficos, clínicos, radiológicos y la evolución clínica. Resultados: Fueron incluidos 46 ni˜nos, con una incidencia de 0,7/1.000 recién nacidos vivos. La edad media fue de 2 meses (rango: 7 días-11 meses). Siete madres presentaban otras coinfecciones: virus de la inmunodeficiencia 1 (1), antígeno HBs (AgHBs) (1) y Streptococcus del grupo B (5). El parto fue vaginal en el 81,4% y en el 13,0% hubo rotura de bolsa amniótica superior a 12 h. Cinco ni˜nos fueron prematuros. Ocurrió infección respiratoria en 41 pacientes (89,1%) y conjuntivitis en 17 (36,9%). La conjuntivitis se manifestó a los primeros 30 días de vida (rango: 7—52 días) y la infección respiratoria a los 45 días de vida (rango:8 días-11 meses). Diez (29,4%) niños presentaron complicaciones: hipoxemia (9), otitis media aguda (2), apnea (3) y atelectasia (1). La radiografía de tórax mostró infiltrado intersticial en 25 casos (65,8%) y fue normal en 4 ni˜nos. La mayoría (80,5%) tuvo una evolución favorable, pero 5 ni˜nos fueron reingresados y 8 (17,4%) desarrollaron broncospasmo recurrente. Conclusiones: En el primer a˜no de vida la C. trachomatis debe considerarse entre los agentes etiológicos de conjuntivitis e infecciones respiratorias. En Portugal, la prevalencia es desconocida, pero probablemente es subdiagnosticada.
- Screening for Pompe disease in a Portuguese high risk populationPublication . Almeida, V; Conceição, I; Fineza, I; Coelho, T; Silveira, F; Santos, M; Herrero Valverde, A; Geraldo, A; Maré, R; Aguiar, TC; Mendonça, C; Martins, J; Medeiros, L; Barroso, C; Vieira, JP; Moreno, T; Negrão, L; Dias, M; Lacerda, L; Evangelista, TPompe disease is a rare metabolic disorder with available enzymatic replacement therapy. Contrasting with the classic infantile form, the others subtypes have a heterogeneous presentation that makes an early and accurate diagnosis difficult. We conducted a prospective, multicenter, observational study to identify undiagnosed patients. During a one-year period, patients followed in Portuguese neuromuscular outpatient clinics with proximal muscle weakness affecting upper and/or lower limbs, hyperCKemia in two or more determinations or hypotonia and hyperCKemia, were screened for acid α-glucosidase deficiency by dried blood spots. Lysosomal acid-alpha-1,4-glucosidase activity was determined by tandem mass spectrometry and positive results were confirmed by molecular study. From the 99 patients screened, Pompe disease was confirmed in 4, with age of onset ranging from 2.5 to 48 years, all with limb girdle muscle weakness, corresponding to a frequency of 4% in our cohort and 4.9% of limb girdle muscle weakness. Screening for Pompe disease in high risk populations, using dried blood spots, was already performed in some European populations. Apart from two negative Scandinavian studies, positive cases were confirmed in 2.8-7.9% of patients presenting with limb girdle muscle weakness and in 0-2.5% with isolated hyperCKemia.
- Torcicolo adquirido na criançaPublication . Regala, J; Martins, J; Dias, AI; Moreira, A; Neves, MO torcicolo adquirido na criança é uma manifestação clínica de múltiplas etiologias possíveis, que se podem agrupar em entidades musculoesqueléticas de origem traumática, infecciosa, inflamatória e tumoral, e entidades não musculo - -esqueléticas de origem neurológica, oftalmológica, otorrino- laringológica, gastroenterológica e tumoral do sistema ner- voso central. Assim existe um amplo espectro de gravidade, desde processos benignos e autolimitados tal como o torcicolo traumático até quadros graves e potencialmente fatais como os tumores da fossa posterior. O torcicolo agudo é uma situação muito frequente no serviço de urgência. A maioria consiste em espasmo muscular, resul- tante de traumatismo minor e responde bem ao tratamento conservador. No entanto, um torcicolo persistente implica uma anamnese e um exame objectivo completos e minuciosos de forma a se poder colocar as hipóteses diagnósticas mais adequadas, independentemente da sua frequência, e estabe- lecer um programa de avaliação que nos permita chegar ao diagnóstico definitivo, pedido os exames complementares mais adequados. No torcicolo persistente/recorrente com anormalidades neurológicas devem ser efectuados exames neuro-imagiológicos para excluir patologia tumoral e even- tualmente encaminhar para uma consulta de Neurologia ou Oftalmologia. Um torcicolo agudo acompanhado de febre deve orientar para uma etiologia infecciosa ou inflamatória da cabeça e pescoço. Apresenta-se uma revisão das principais causas de torcicolo adquirido com casos clínicos ilustrativos.