RESUMO
The amino acid profile was studied in individual random samples of urine from 1147 normal schoolchildren and 1074 exceptional children: 628 with mental retardation, 332 with hearing and speech defects and 114 with visual defects as well as in 673 patients with mental disorders. Laboratory procedures included chemical tests and one-dimension paper- electro- and column-chromatography. Phenylketonuria was found in a mentally retarded girl and in one of her brothers; iminoglycinuria in a mentally retarded boy and heterozygote cystinuria in a man with manic-depressive psychosis. The percentage of high excretors of beta-aminoisobutyric acid (B-AIB) in the controls (4.88%) was similar to previous findings in the Caucasian race. The children with hearing and speech defects showed a number of high excretors of B-AIB significantly lower (X2 = 5.32; p less than 0.025) and the children with visual defects a number of hyperglycinurias significantly higher (X2 = 9.19; p less than 0.05). Previous non-consistent findings on the excess of high excretors of B-AIB in Down's syndrome were not confirmed in this study. These results suggest a relationship between transport defects in the plasma membrane and pathological disorders in some of the cases screened.
Assuntos
Aminoácidos/urina , Deficiência Intelectual/urina , Transtornos Mentais/urina , Alanina/urina , Erros Inatos do Metabolismo dos Aminoácidos/urina , Ácidos Aminoisobutíricos/urina , Criança , Costa Rica , Creatinina/urina , Feminino , Glicina/urina , Transtornos da Audição/urina , Humanos , Masculino , Fenilalanina/urina , Distúrbios da Fala/urinaRESUMO
Pareciera que la anemia refractaria sideroblastica idiopatica (IRSA) es un cambio maligno, no invasivo y con frecuencia preleucemico. Algunos pacientes desarrollan otros tipos de neoplasias y desordenes hematologicos. Se revisa la literatura reciente mas importante al respecto, y algunos conceptos sobre la posible mutacion de la celula germinativa comun, que origina estos cambios. Se detallan las manifestaciones clinicas sobresalientes que presentan los pacientes con IRSA, haciendo hincapie en la cronicidad y posible malignidad de la enfermedad. Se menciona lo sombrio del pronostico y lo dificil del manejo de los enfermos
Assuntos
Humanos , Anemia SideroblásticaRESUMO
Es esta una revision de la literatura mas importante para caracterizar la anemia refractaria sideroblastica ideopatica (IRSA), en sus aspectos morfologicos, bioquimicos y citoquimicos. Se hace enfasis a la existencia de una doble poblacion celular, en las tres lineas medulares. Se discuten las principales teorias etiopatogenicas, a saber: causas extramedulares, defectos en la sintesis del heme y origenes malignos de la enfermedad. Se exponen tambien algunos datos sobre la polemica que alrededor de IRSA se ha sucitado, en cuanto a su nomenclatura y caracterizacion