Detecção de X-ALD em pacientes de alto risco : uma abordagem clínico-laboratorial

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Treatment strategies for inborn erros of metabolism

Recentes avanços no diagnóstico e tratamento dos erros inatos do metabolismo têm melhorado substancialmente o prognóstico de muitos pacientes com estas condições. Na pratica médica é importante o diagnóstico precoce destas patologias, especialmente em um paciente agudamente enfermo, para que um tratamento adequado e rápido seja instituído. Neste artigo, apresentamos várias estratégias terapêuticas para alguns erros inatos do metabolismo, que devem ser utilizadas no sentido de melhorar o seu prognóstico.Recent advances in the diagnosis and treatment of inborn errors of metabolism (IEM) have improved substantially the prognosis for many of these conditions. In the clinical practice it is important to recognize this pathology mainly in an acute situation, when the early intervention is essential. In this article, we presented some therapeutic strategies for IEM that should be used to improve their prognose

Treatment strategies for inborn erros of metabolism

Recentes avanços no diagnóstico e tratamento dos erros inatos do metabolismo têm melhorado substancialmente o prognóstico de muitos pacientes com estas condições. Na pratica médica é importante o diagnóstico precoce destas patologias, especialmente em um paciente agudamente enfermo, para que um tratamento adequado e rápido seja instituído. Neste artigo, apresentamos várias estratégias terapêuticas para alguns erros inatos do metabolismo, que devem ser utilizadas no sentido de melhorar o seu prognóstico.Recent advances in the diagnosis and treatment of inborn errors of metabolism (IEM) have improved substantially the prognosis for many of these conditions. In the clinical practice it is important to recognize this pathology mainly in an acute situation, when the early intervention is essential. In this article, we presented some therapeutic strategies for IEM that should be used to improve their prognose

Maternal drinking behavior and fetal alcohol spectrum disorders in adolescents with criminal behavior in southern Brazil

Prenatal alcohol exposure can have serious and permanent adverse effects. The developing brain is the most vulnerable organ to the insults of prenatal alcohol exposure. A behavioral phenotype of prenatal alcohol exposure including conduct disorders is also described. This study on a sample of Brazilian adolescents convicted for criminal behavior aimed to evaluate possible clinical features of Fetal Alcohol Syndrome (FAS). These were compared to a control group of school adolescents, as well as tested for other environmental risk factors for antisocial behavior. A sample of 262 institutionalized male adolescents due to criminal behavior and 154 male students aged between 13 and 21 years comprised the study population. Maternal use of alcohol was admitted by 48.8% of the mothers of institutionalized adolescents and by 39.9% of the school students. In this sample of adolescents we could not identify individual cases with a clear diagnosis of FAS, but signs suggestive of FASD were more common in the institutionalized adolescents. Social factors like domestic and family violence were frequent in the risk group, this also being associated to maternal drinking during pregnancy. The inference is that in our sample, criminal behavior is more related to complex interactions between environmental and social issues including prenatal alcohol exposure

Maternal drinking behavior and Fetal Alcohol Spectrum Disorders in adolescents with criminal behavior in southern Brazil.

Prenatal alcohol exposure can have serious and permanent adverse effects. The developing brain is the most vulnerable organ to the insults of prenatal alcohol exposure. A behavioral phenotype of prenatal alcohol exposure including conduct disorders is also described. This study on a sample of Brazilian adolescents convicted for criminal behavior aimed to evaluate possible clinical features of Fetal Alcohol Syndrome (FAS). These were compared to a control group of school adolescents, as well as tested for other environmental risk factors for antisocial behavior. A sample of 262 institutionalized male adolescents due to criminal behavior and 154 male students aged between 13 and 21 years comprised the study population. Maternal use of alcohol was admitted by 48.8% of the mothers of institutionalized adolescents and by 39.9% of the school students. In this sample of adolescents we could not identify individual cases with a clear diagnosis of FAS, but signs suggestive of FASD were more common in the institutionalized adolescents. Social factors like domestic and family violence were frequent in the risk group, this also being associated to maternal drinking during pregnancy. The inference is that in our sample, criminal behavior is more related to complex interactions between environmental and social issues including prenatal alcohol exposure