منابع مشابه
Síndrome de Cogan Reese Cogan Reese syndrome
Estudo realizado para descrever um caso da síndrome de Cogan Reese. Paciente do sexo feminino, 55 anos, com diagnóstico de síndrome de Cogan Reese. Melhor acuidade visual de 0,67 em olho direito e 0,2 em olho esquerdo. Pelo exame biomicroscópico não se detectou anormalidades no olho direito. No olho esquerdo haviam nódulos pigmentados na superfície anterior da íris, irregularidades corneanas e ...
متن کاملFragile X Syndrome Síndrome de X
190 Abstract Fragile X Syndrome (FXS) is a genetic disease due to a CGG trinucleotide expansion, named full mutation (greater than 200 CGG repeats), in the FMR1 gene locus Xq27.3; which leads to an hypermethylated region in the gene promoter therefore silencing it and lowering the expression levels of FMRP, a protein involved in synaptic plasticity and maturation. Individuals with FXS present w...
متن کاملSíndrome de reiter : relato de caso * Reiter ' s syndrome : a case report
Resumo: Relato de um caso de síndrome de Reiter em paciente jovem, do sexo masculino, com lesões dermatológicas típicas e achado positivo para o antígeno do complexo de histocompatibilidade HLA-B27. O quadro surgiu após infecção intestinal por Salmonella enteritidis, evoluindo com melhora após utilização de tetraciclina, prednisona e indometacina. Episódio recidivante foi tratado com metotrexat...
متن کاملRichner-Hanhart syndrome (tyrosinemia type II): a case report of delayed diagnosis with pseudodendritic corneal lesion.
Richner-Hanhart syndrome (tyrosinemia type II) is a rare autosomal recessive disease associated with high serum tyrosine levels caused by the deficiency of tyrosine aminotransferase enzyme. We report a 15-year-old female patient with complaints of bilateral photophobia and tearing, which started during the infancy period. Biomicroscopic examination revealed bilateral circular corneal opacities ...
متن کاملMortality differences between men and women following first myocardial infarction. RESCATE Investigators. Recursos Empleados en el Síndrome Coronario Agudo y Tiempo de Espera.
CONTEXT Mortality after acute myocardial infarction is worse in women than in men, even after adjustment for comorbidity and age dissimilarities between sexes. OBJECTIVE To assess the influence of sex on survival after acute myocardial infarction. DESIGN Inception cohort obtained in a prospective registry of patients with acute myocardial infarction from 1992 through 1994. SETTING Four te...
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ژورنال
عنوان ژورنال: Revista chilena de pediatría
سال: 1985
ISSN: 0370-4106
DOI: 10.4067/s0370-41061985000300010