As manifestações depressivas na doença de Machado-Joseph

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Genomic analysis of Brazilian patients with fabry disease

Fabry disease is an X-linked lysosomal disorder due to α-galactosidase A deficiency that causes storage of globotriaosylceramide. The gene coding for this lysosomal enzyme is located on the long arm of the X chromosome, in region Xq21.33-Xq22. Disease progression leads to vascular disease secondary to involvement of kidney, heart and the central nervous system. Detection of female carriers based solely on enzyme assays is often inconclusive. Therefore, mutation analysis is a valuable tool for diagnosis and genetic counseling. Many mutations of the α-galactosidase A gene have been reported with high genetic heterogeneity, being most mutations private found in only one family. The disease is panethnic, and estimates of incidence range from about 1 in 40,000 to 60,000 males. Our objective was to describe the analysis of 6 male and 7 female individuals belonging to 4 different Fabry disease families by automated sequencing of the seven exons of the α-galactosidase gene. Sequencing was performed using PCR fragments for each exon amplified from DNA extracted from peripheral blood. Three known mutations and one previously described in another Brazilian family were detected. Of 7 female relatives studied, 4 were carriers. Although the present study confirms the heterogeneity of mutations in Fabry disease, the finding of the same mutation previously detected in another Fabry family from our region raises the possibility of some founder effect, or genetic drift. Finally, the present study highlights the importance of molecular analysis for carrier detection and genetic counseling

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