Browsing by Author "Rodrigues, M"
Now showing 1 - 6 of 6
Results Per Page
Sort Options
- Como Planear um Ensaio Clínico em Cardiologia. Aspectos FundamentaisPublication . Rodrigues, M; Gil, VMA experiência clínica acumulada resultante da observação seriada de doentes introduz enviesamento na avaliação da eficácia dos fármacos. Apenas com um ensaio clínico, se adequadamente desenhado, é possível minimizar o enviesamento e avaliar essa eficácia. No entanto, o planeamento de um ensaio clínico é a área em que a experiência clínica pode ser útil. Os autores revêem os aspectos fundamentais da metodologia dos ensaios clínicos em Cardiologia, nomeadamente as várias fases da investigação clínica em humanos, a definição da população, as formas de limitar o enviesamento, os desenhos possíveis dos estudos, as opções de aleatorização, a dimensão da amostra, os tipos de resultados e as precauções a ter no seguimento.
- Hemorragia pós-partoPublication . Carvalho, M; Rodrigues, M
- Mutations of the GLA gene in young patients with stroke: the PORTYSTROKE study-screening genetic conditions in Portuguese young stroke patientsPublication . Baptista, V; Ferreira, S; Pinho-e-Melo, T; Carvalho, M; Cruz, V; Carmona, C; Silva, F; Tuna, A; Rodrigues, M; Ferreira, C; Pinto, A; Leitão, A; Gabriel, J; Calado, S; Oliveira, J; Ferro, JBACKGROUND AND PURPOSE: Fabry disease is an X-linked monogenic disorder caused by mutations in the GLA gene. Recent data suggest that stroke in young adults may be associated with Fabry disease. We aimed to ascertain the prevalence of this disorder among young adult patients with stroke in Portugal by GLA genotyping. METHODS: During 1 year, all patients aged 18 to 55 years with first-ever stroke, who were admitted into any of 12 neurology hospital departments in Portugal, were prospectively enrolled (n=625). Ischemic stroke was classified according to Trial of Org 10172 in Acute Stroke Treatment criteria. Alpha-galactosidase activity was further assayed in all patients with GLA mutations. RESULTS: Four hundred ninety-three patients (mean age, 45.4 years; 61% male) underwent genetic analyses: 364 with ischemic stroke, 89 with intracerebral hemorrhage, 26 with subarachnoid hemorrhage, and 14 with cerebral venous thrombosis. Twelve patients had missense GLA mutations: 9 with ischemic stroke (p.R118C: n=4; p.D313Y: n=5), including 5 patients with an identified cause of stroke (cardiac embolism: n=2; small vessel disease: n=2; other cause: n=1), 2 with intracerebral hemorrhage (p.R118C: n=1; p.D313Y: n=1), and one with cerebral venous thrombosis (p.R118C: n=1). Leukocyte alpha-galactosidase activity was subnormal in the hemizygous males and subnormal or low-normal in the heterozygous females. Estimated prevalence of missense GLA mutations was 2.4% (95% CI, 1.3% to 4.1%). CONCLUSIONS: Despite a low diagnostic yield, screening for GLA mutations should probably be considered in different types of stroke. Restricting investigation to patients with cryptogenic stroke may underestimate the true prevalence of Fabry disease in young patients with stroke.
- Pregnancy with anti-PP1Pk antibody managed with prednisolone and low-molecular-weight heparin – A case report and literature reviewPublication . Nascimento, S; Rodrigues, M; Henriques, M; Duarte, FP; Barra, A; Matos, TThe anti-PP1Pk is a rare antibody associated with recurrent miscarriages, mainly in the first half of pregnancy. There seems to be a direct correlation between the antibody titer and risk of miscarriage. As this is a rare entity, few case reports have been published. The most frequently proposed therapeutic approaches are doublefiltration plasmapheresis and plasma exchange therapy. The rationale behind them is to remove the cytotoxic antibodies from maternal circulation. Here, we present the case of a 30-year-old woman with a history of two spontaneous miscarriages and a pre-conception anti-PP1Pk antibody titer of 1:4. As soon as she became pregnant, she was placed on prednisolone and low-molecular-weight heparin (LMWH). Biweekly antibody titers were performed throughout the entire gestation and remained below 1:16. As the titers were considered to be low, plasmapheresis was not performed. The pregnancy was uneventful and she delivered a healthy newborn child at 37 weeks of gestation, with no signs of anaemia.
- Tirosinemia Tipo 1: O Passado e o Presente Numa Unidade de Doenças MetabólicasPublication . Oliveira, J; Rodrigues, M; Costa, C; Janeiro, P; Almeida, I; Vilarinho, L; Gaspar, AIntrodução: A ti rosinemia ti po I é uma doença hereditária do metabolismo por défi ce de fumarilacetoacetase, com uma pre- valência ao nascimento de 1:100000 e potencialmente fatal. O plano alimentar individualizado, o transplante hepato-renal e a niti sinona são algumas das estratégias terapêuti cas. Métodos: Estudo retrospeti vo, observacional e descriti vo de oito doentes acompanhados numa unidade de doenças meta- bólicas, entre janeiro de 1981 e dezembro de 2012. Analisaram-se dados demográfi cos, manifestações clínicas, terapêuti ca, evolução clínica e laboratorial. Resultados: Na década de 80 do século passado foram diagnosti cados quatro doentes, dos quais dois faleceram em contexto de insufi ciência hepáti ca e carcinoma hepatocelular, uma doente foi submeti da a transplante hepáti co e outra a transplante hepato-renal. Ambas estão clinicamente bem, mantendo terapêuti ca imunossupressora. Na década seguinte foram diagnos- ti cados dois doentes, dos quais um faleceu aos 3 meses por insufi ciência hepáti ca aguda e carcinoma hepatocelular. A outra doente iniciou terapêuti ca com niti sinona e plano alimentar personalizado, com boa evolução clínica e laboratorial até à ado- lescência, altura em que surgiram difi culdades escolares e de controlo metabólico, possivelmente relacionadas com períodos de incumprimento dietéti co. O rastreio metabólico neonatal alargado permiti u diagnosti car dois doentes às 3 semanas de vida em fase pré-sintomáti ca. Estes iniciaram plano alimentar personalizado e niti sinona e mantêm bom controlo metabólico e desenvolvimento psicomotor adequado. Discussão: A possibilidade de diagnósti co precoce e uti lização da niti sinona revolucionaram o prognósti co dos doentes com ti rosinemia ti po 1. O risco de carcinoma hepatocelular e outras complicações implicam vigilância clínica, laboratorial e imagio- lógica regular.
- Treatment of multidrug-resistant and extensively drug-resistant tuberculosis in adolescent patientsPublication . Rodrigues, M; Brito, M; Villar, M; Correia, PThe authors describe 2 pediatric patients with drug-resistant tuberculosis in whom new diagnostic and therapeutic approaches were crucial to good clinical evolution. Although there was good clinical outcome, important side effects with linezolid and amikacin occurred, namely medullary hypoplasia and neurosensorial hypoacusia, respectively. A multidisciplinary approach with close follow up was of major importance in managing these patients.