RESUMO
UNLABELLED: We report the cases of two sibs of North African origin with AAAS gene mutation characterized by the heterogeneity of their phenotype. While an 8-y-old boy presented with acute adrenal insufficiency and mental retardation, the diagnosis was suggested by the clinical history of his 6-y-old sister who had symptomatic achalasia and chronic adrenal failure. CONCLUSION: Our observations corroborate the phenotypic heterogeneity reported in triple A syndrome, and underline the possibility of a variable intra-familial expression.
Assuntos
Insuficiência Adrenal/genética , Acalasia Esofágica/genética , Heterogeneidade Genética , Doenças do Aparelho Lacrimal/genética , Fenótipo , Proteínas/genética , Criança , Feminino , Humanos , Masculino , Mutação/genética , Proteínas do Tecido Nervoso , Complexo de Proteínas Formadoras de Poros Nucleares , SíndromeRESUMO
PURPOSE: Control of radiation dose in pediatric radiology requires knowledge of the reference levels for all examinations. These data are useful for daily quality assessment, but are not perfectly known for some radiographic examinations. The purpose of our study was to evaluate the dose related to voiding cystourethrograms (VCUG), upper GI (UGI) and intravenous urography (IVU). Neonatal chest radiographs in the intensive care unit were also evaluated. MATERIAL AND METHODS: For examinations with contrast material (478VCUG, 220UGI, 80IVU), the children were divided in groups based on their weight, from 5 to 30 Kg. Measurements were performed using an ionization chamber and expressed with the dose-area product (DAP). For chest radiographs, a direct measurement of the entrance-skin dose was performed, with secondary calculation of the DAP. RESULTS: For VCUGs, the DAP ranged between 42.89cGy.cm2 and 125.41cGy.cm2. The range was between 76.43 and 150.62cGy.cm2 for UGIs and between 49.06 and 83.33cGy.cm2 for IVUs. For neonate chest radiographs, DAP calculations were between 0.29 and 0.99cGy.cm2. CONCLUSION: These values represent our reference doses. They allow continuous monitoring of our radiographic technical parameters and radiographic equipment and help to correct and improve them if necessary.
