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6.
Rev. neurol. (Ed. impr.) ; 65(1): 13-18, 1 jul., 2017. tab
Artigo em Espanhol | IBECS | ID: ibc-164581

RESUMO

Introducción. Los pacientes con cáncer tienen un mayor riesgo de ictus debido a los efectos malignos directos e indirectos. La trombólisis intravenosa con activador tisular del plasminógeno recombinante (rtPA) constituye un tratamiento médico estándar para el ictus isquémico agudo. Objetivo. Revisar el uso de rtPA en el ictus isquémico agudo en pacientes con cáncer activo. Sujetos y métodos. Estudio retrospectivo observacional de casos y controles para evaluar pacientes con ictus isquémico agudo y cáncer admitidos en la unidad de ictus entre enero de 2010 y junio de 2015. Resultados. Se identificaron siete casos (86% varones; mediana de edad: 76 años) y también se incluyeron 20 controles pareados por edad y clasificación del Oxfordshire Community Stroke Project. Un 29% de casos experimentó complicaciones directas del procedimiento frente a un 30% en el grupo control. Un 14% sufrió transformación hemorrágica (frente a un 20%). Un paciente (caso) sufrió una hemorragia sistémica grave, y otro (control), una hemorragia intracerebral grave. A los tres meses, un 43% era independiente (frente a un 25% de los controles) y un 29% había fallecido (frente a un 30%). Un subtipo etiológico indeterminado (clasificación TOAST) era más frecuente en pacientes con cáncer (71% frente a 20%). Conclusión. Complicaciones hemorrágicas graves, potenciadas por el rtPA, pueden incrementar el riesgo de morbilidad y mortalidad. Sin embargo, pacientes seleccionados con cáncer que padecen un ictus isquémico agudo pueden beneficiarse del tratamiento con rtPA. Un cáncer activo no debería considerarse una contraindicación de uso de rtPA, aunque debe evaluarse el riesgo de complicaciones y la esperanza de vida para tomar la decisión (AU)


Introduction. Cancer patients have increased stroke risk from direct and indirect malignancy effects. Intravenous thrombolysis with recombinant tissue plasminogen activator (rtPA) is standard medical treatment for acute ischemic stroke (AIS). Aim. To review rtPA use in AIS patients with active cancer. Subjects and methods. Retrospective observational case-control study evaluating patients with AIS and cancer admitted to our stroke unit between January/2010 and June/2015. Results. Seven cases were identified (86% male; median age: 76), and 20 controls were included matched for age and Oxfordshire Community Stroke Project classification. 29% experienced direct procedure complications vs 30% within the control group, 14% suffered haemorrhagic transformation (vs 20%), one patient experienced serious systemic haemorrhage (case) and one patient experienced serious intracerebral haemorrhage (control). After three months’ follow-up, 43% were independent compared with 25% controls, and 29% had died (vs 30%). Undetermined aetiology subtype (TOAST classification) was more frequent in cancer patients when compared to controls (71% vs 20%). Conclusion. Severe haemorrhagic complications, potentiated by rtPA, carry increased risk of morbidity and mortality. Nevertheless, selected cancer patients with AIS may benefit from rtPA treatment. Active cancer should not be considered an absolute contraindication to rtPA use. Risk of complications and life expectancy should be assessed when making this decision (AU)


Assuntos
Humanos , Acidente Vascular Cerebral/tratamento farmacológico , Ativador de Plasminogênio Tecidual/uso terapêutico , Hemorragias Intracranianas/induzido quimicamente , Neoplasias/complicações , Estudos de Casos e Controles , Segurança do Paciente , Resultado do Tratamento , Indicadores de Morbimortalidade , Terapia Trombolítica , Estudos Retrospectivos
7.
Muscle Nerve ; 56(5): 868-872, 2017 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-28128857

RESUMO

INTRODUCTION: Mitochondrial disorders display remarkable genetic and phenotypic heterogeneity. METHODS: We performed a retrospective analysis of the clinical, histological, biochemical, and genetic features of 65 patients with molecular diagnoses of mitochondrial disorders. RESULTS: The most common genetic diagnosis was a single large-scale mitochondrial DNA (mtDNA) deletion (41.5%), and the most frequent clinical phenotype was chronic progressive external ophthalmoplegia (CPEO). It occurred in 41.5% of all patients, primarily in those with mtDNA deletions. Histological signs of mitochondrial dysfunction were found in 73.8% of patients, and respiratory chain enzyme assay (RCEA) abnormalities were detected in 51.9%. CONCLUSIONS: This study confirms the high relative frequency of single large-scale deletions among mitochondrial disorders as well as its particular association with CPEO. Muscle histology seems to be particularly useful in older patients and those with mtDNA deletions, whereas RCEA might be more helpful in young children or individuals with mtDNA depletion. Muscle Nerve 56: 868-872, 2017.


Assuntos
DNA Mitocondrial/genética , Doenças Mitocondriais , Complexos Multienzimáticos/genética , Complexos Multienzimáticos/metabolismo , Músculo Esquelético/patologia , Deleção de Sequência/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Estudos de Coortes , Análise Mutacional de DNA , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Doenças Mitocondriais/genética , Doenças Mitocondriais/metabolismo , Doenças Mitocondriais/patologia , Oftalmoplegia Externa Progressiva Crônica/genética , Portugal , Adulto Jovem
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