Performance of six severity-of-illness scores in cancer patients requiring admission to the intensive care unit: a prospective observational study

INTRODUCTION: The aim of this study was to evaluate the performance of five general severity-of-illness scores (Acute Physiology and Chronic Health Evaluation II and III-J, the Simplified Acute Physiology Score II, and the Mortality Probability Models at admission and at 24 hours of intensive care unit [ICU] stay), and to validate a specific score – the ICU Cancer Mortality Model (CMM) – in cancer patients requiring admission to the ICU. METHODS: A prospective observational cohort study was performed in an oncological medical/surgical ICU in a Brazilian cancer centre. Data were collected over the first 24 hours of ICU stay. Discrimination was assessed by area under the receiver operating characteristic curves and calibration was done using Hosmer–Lemeshow goodness-of-fit H-tests. RESULTS: A total of 1257 consecutive patients were included over a 39-month period, and 715 (56.9%) were scheduled surgical patients. The observed hospital mortality was 28.6%. Two performance analyses were carried out: in the first analysis all patients were studied; and in the second, scheduled surgical patients were excluded in order to better compare CMM and general prognostic scores. The results of the two analyses were similar. Discrimination was good for all of the six studied models and best for Simplified Acute Physiology Score II and Acute Physiology and Chronic Health Evaluation III-J. However, calibration was uniformly insufficient (P < 0.001). General scores significantly underestimated mortality (in comparison with the observed mortality); this was in contrast to the CMM, which tended to overestimate mortality. CONCLUSION: None of the model scores accurately predicted outcome in the present group of critically ill cancer patients. In addition, there was no advantage of CMM over the other general models

DESEMPENHO COGNITIVO ATRAVÉS DO MINIEXAME DO ESTADO MENTAL NA DISTROFIA MUSCULAR DE DUCHENNE

Objetivo: A distrofia muscular de Duchenne (DMD) é frequentemente associada à deficiência intelectual (DI) e ao prejuízo de funções superiores como leitura, raciocínio, lógica, e memória. O objetivo do estudo foi avaliar o desempenho cognitivo de pacientes com DMD através do Mini-Exame do Estado Mental (MEEM), um teste simples e rápido, usado como primeiro rastreio intelectual, principalmente quando baterias psicométricas complexas, dependentes de psicólogos especializados, não estão disponíveis. Método: Foi realizado um estudo observacional de trinta e quatro meninos com DMD, com idades entre 8 e 22 anos, separados em dois grupos de acordo com a presença de DI moderada-grave, conforme a definição clínica do funcionamento adaptativo do Manual Estatístico e Diagnóstico de Desordens Mentais 5º edição (DSM-5). Foramavaliados a pontuação no MEEM, marcos do desenvolvimento, independêncianas atividades de vida cotidiana e capacidade de alfabetização. Resultados: Os marcos motores e de linguagem estavam atrasados (16 meses), e a média no MEEM foi 21, ponto de corte mais baixo do que verificado em pares da mesma idade. O grupo com DI moderada-grave apresentou uma média de 12 no MEEM, e os subtestes de orientação, atenção e cálculo e linguagem foram os que demonstraram piores desempenhos. O ponto de corte de maior acurácia paradistinguir DI moderada-grave nos pacientes com DMD foi 21. Conclusão: O MEEM apresentou adequada sensibilidade (100%) e especificidade (90%) para o ponto de corte de 21, revelando-se um bom método de triagem cognitiva para DI moderada-grave na DMD

O retardo mental na distrofia muscular de Duchenne

OBJETIVO: Fazer um levantamento da literatura médica destinada ao estudo das disfunções cognitivas nos pacientes com distrofia muscular de Duchenne, através da descrição dos marcos do desenvolvimento neuropsicomotor e dos testes psicométricos para quantificação da inteligência. FONTES DOS DADOS: Revisão não sistemática sobre os aspectos da cognição na distrofia muscular de Duchenne nas principais bases médicas científicas: MEDLINE, LILACS, Biblioteca Cochrane e SciELO. SÍNTESE DOS DADOS: Os pacientes com distrofia muscular de Duchenne apresentaram atraso para marcha e desenvolvimento da linguagem, os quais se correlacionaram a menores pontuações nos testes de inteligência no futuro. Há marcante disfunção nos subtestes das habilidades verbais. CONCLUSÕES: A média do coeficiente de inteligência encontra-se com um desvio padrão abaixo da média populacional. Quanto maior a disfunção cognitiva, piores serão os aspectos relacionados à morbidade e mortalidade na doença

Mutação no gene scn1a e suas diferentes expressões fenotípicas - comparação de dois casos

INTRODUCTION: Heterozygous mutations in the SCN1A gene are linked to a wide spectrum of epileptic disorders, ranging from self-limited conditions to epileptic encephalopathies, such as Dravet Syndrome. Seizure control is important to prevent both sudden death and morbidity associated with prolonged seizures. Current evidence suggests that sodium-channel blockers should be avoided. OBJECTIVES: To report on two cases of patients with a mutation in the SCN1A gene associated with Dravet Syndrome, emphasizing the importance of genetic testing for the diagnosis, prognosis, and correct choice of antiepileptic medications. CASE REPORT: Case 1: male patient with onset of seizures at four months old following vaccination. After this, he developed prolonged generalized seizures and, over time, other types of seizures. He also developed a severe intellectual deficit and drug-resistant epilepsy exacerbated by infections and use of sodium-channel blockers. Case 2: female patient with first episode of seizure at 26 days. At 13 months, she developed prolonged generalized crises exacerbated by small temperature variations and euphoria or irritability. Aged two, she had an episode of prolonged status epilepticus. As a result, she developed hypoxic-ischemic encephalopathy and drug-resistant epilepsy. DISCUSSION: The two patients have a mutation in the SCN1A gene associated with Dravet syndrome and their clinical history reveal similar and discrepant points. The most significant contributions of genetic testing are the identification of precipitating factors, greater attention to the possibility of unfavorable evolution, and guidance for choosing anticonvulsants, including avoidance of sodium-channel blockers