A síndrome de Cri Du Chat em adolescentes / The Cri du Chat syndrome in adolescents

Introdução: A síndrome do miado do gato ou síndrome 5p é uma doença congênita rara causada por uma anormalidade cromossômica. Relato do caso: Apresentamos o caso de uma paciente de 13 anos com características dismórficas leves. O retardo mental era grave, com comportamento mal adaptativo e hiperatividade. O diagnóstico citogenético da anormalidade cromossômica 46 XX del 5pter-->p13 foi estabelecido. Conclusão: O diagnóstico precoce dessa doença é necessário para a qualidade de vida dos pacientes, mas esse diagnóstico é difícil de ser realizado em pacientes que foram vistos, pela primeira vez, em idade mais avançada.

Introduction: Cat cry syndrome or 5p- syndrome is a rare congenital disease caused by a chromosomal abnormality. Case report: The case of a thirteen-year-old female patient with mild dysmorphic features is presented. Mental retardation is severe, with maladaptive behavior and hyperactivity. The cytogenetic diagnosis of chromosomal abnormality karyotype 46 XX del 5pterp13 has been established. Conclusions: We concluded that early diagnosis of this disease is necessary for patients' quality of life, but this diagnosis is difficult to make in patients who were first seen at an older age.

Impacto do diabetes mellitus na reperfusão miocárdica após intervenção coronariana percutânea primária / Impact of diabetes mellitus on myocardial reperfusion following primary percutaneous coronary intervention

OBJETIVO: Analisar a reperfusão miocárdica após intervenção coronariana percutânea primária em diabéticos e não diabéticos. MÉTODOS: Estudo caso-controle prospectivo, realizado no período de janeiro de 2013 a março de 2014, incluindo pacientes com diagnóstico de infarto agudo do miocárdio com menos de 12 horas do início dos sintomas e submetidos à terapia de reperfusão com intervenção coronariana percutânea primária. Foi realizada avaliação do blush miocárdico, da resolução do supradesnivelamento de segmento ST >50% em 90 e em 180 minutos e do Thrombolysis in Myocardial Infarction (TIMI) frame count corrigido <40 quadros. RESULTADOS: Foram incluídos 201 pacientes no estudo, sendo 32 diabéticos. Levando em consideração os marcadores de reperfusão miocárdica estudados, indivíduos diabéticos tiveram menor resolução do segmento ST, menor blush miocárdico e maior TIMI frame count após angioplastia primária quando comparados aos não diabéticos. CONCLUSÕES: Diabéticos apresentaram piores índices de reperfusão miocárdica pós-angioplastia primária comparados aos não diabéticos. (AU)

OBJECTIVES: To analyze myocardial reperfusion following primary percutaneous coronary intervention in diabetic and non-diabetic patients. METHODS: This is a prospective casecontrol study, conducted from January 2013 to March 2014, including patients diagnosed with acute myocardial infarction less than 12 hours after the onset of symptoms, and undergoing reperfusion therapy with Primary percutaneous coronary intervention. The myocardial blush, ST-segment elevation >50% resolution in 90 and 180 minutes, and corrected Thrombolysis Myocardial Infarction (TIMI) frame count <40 frames were evaluated. RESULTS: A total of 201 patients were included in the study, of which 32 were diabetic. Taking the studied myocardial reperfusion markers into consideration, diabetic patients had lower ST segment resolution, lower myocardial blush, and higher TIMI frame count after primary angioplasty when compared to non-diabetics. CONCLUSIONS: Diabetic patients presented worse myocardial reperfusion rates after primary angioplasty when compared to non-diabetic patients. (AU)

Contrast-induced nephropathy after primary angioplasty for acute myocardial infarction.

INTRODUCTION: The prevention of contrast-induced nephropathy (CIN) is difficult in emergency situations, making it essential to study CIN in patients submitted to urgent angioplasty. OBJECTIVE: To determine the incidence and associated factors to CIN in patients with myocardial infarction (MI) submitted to primary angioplasty in the first 12 hours after onset of symptoms. METHODS: We studied 201 consecutive cases of MI with ST-segment elevation with less than 12 hours of evolution. All patients were submitted to the same angioplasty protocol. CIN was defined as an absolute increase of creatinine of at least 0.5 mg/dL and/or a relative increase of creatinine of 25% in relation to baseline in a period between 48 and 72 hours after contrast administration. The variables that differed between patients with and without CIN in univariate analysis were analyzed by logistic regression. RESULTS: The sample was formed by 135 (67.2%) men and 66 (32.8%) women, with mean age of 66.6 ± 11.7 years. The incidence of CIN was 23.8%. In univariate analysis the patients with CIN were older and had higher frequency of left ventricular ejection fraction ≤ 40% and Killip classification ≥ 2. In multivariate analysis, we did not find independent predictors of CIN. CONCLUSION: CIN occurred in » of the patients with MI submitted to angioplasty without predictor variables. This finding highlights the need for CIN preventive measures after contrast use in emergency angioplasty.

Nefropatia induzida por contraste após angioplastia primária no infarto agudo do miocárdio / Contrast-induced nephropathy after primary angioplasty for acute myocardial infarction

Resumo Introdução: A prevenção da nefropatia induzida por contraste (NIC) é difícil nas situações de emergência, tornando essenciais estudos sobre NIC em pacientes submetidos à angioplastia de urgência. Objetivo: Determinar a incidência e fatores associados à NIC em pacientes com infarto agudo do miocárdio (IAM) submetidos à angioplastia nas primeiras 12 horas após início dos sintomas. Métodos: Foram estudados 201 casos consecutivos de IAM com supradesnivelamento do segmento ST com menos de 12 horas de evolução. Todos os pacientes foram submetidos ao mesmo protocolo de angioplastia. A NIC foi definida como elevação absoluta da creatinina de pelo menos 0,5 mg/dL e/ou aumento relativo da creatinina de 25% em relação ao valor basal no período entre 48 e 72 horas após a administração do contraste. As variáveis que diferiram entre os pacientes com e sem NIC na análise univariada foram analisadas por regressão logística. Resultados: A amostra foi formada por 135 (67,2%) homens e 66 (32,8%) mulheres com idade média de 66,6 ± 11,7 anos. A incidência de NIC foi de 23,8%. Na análise univariada os pacientes com NIC eram mais idosos e com maior frequência de fração de ejeção do ventrículo esquerdo ≤ 40% e da classificação Killip ≥ 2. Na análise multivariada não foram encontrados preditores independentes de NIC. Conclusão: A NIC acomete » dos pacientes com IAM submetidos à angioplastia sem variáveis preditoras. Esse resultado ressalta a necessidade de medidas preventivas para NIC após uso de contraste em angioplastia de urgência.

Abstract Introduction: The prevention of contrast-induced nephropathy (CIN) is difficult in emergency situations, making it essential to study CIN in patients submitted to urgent angioplasty. Objective: To determine the incidence and associated factors to CIN in patients with myocardial infarction (MI) submitted to primary angioplasty in the first 12 hours after onset of symptoms. Methods: We studied 201 consecutive cases of MI with ST-segment elevation with less than 12 hours of evolution. All patients were submitted to the same angioplasty protocol. CIN was defined as an absolute increase of creatinine of at least 0.5 mg/dL and/or a relative increase of creatinine of 25% in relation to baseline in a period between 48 and 72 hours after contrast administration. The variables that differed between patients with and without CIN in univariate analysis were analyzed by logistic regression. Results: The sample was formed by 135 (67.2%) men and 66 (32.8%) women, with mean age of 66.6 ± 11.7 years. The incidence of CIN was 23.8%. In univariate analysis the patients with CIN were older and had higher frequency of left ventricular ejection fraction ≤ 40% and Killip classification ≥ 2. In multivariate analysis, we did not find independent predictors of CIN. Conclusion: CIN occurred in » of the patients with MI submitted to angioplasty without predictor variables. This finding highlights the need for CIN preventive measures after contrast use in emergency angioplasty.