RESUMO
We describe a patient in whom newborn immunoreactive trypsin screening and mutation analysis suggested a diagnosis of cystic fibrosis; however, the clinical course and sweat test results were not consistent with the diagnosis. Direct sequencing of the patient's genomic DNA showed compound heterozygosity for delta F508 and F508C, a polymorphism not associated with clinical disease.
Assuntos
Fibrose Cística/diagnóstico , Regulador de Condutância Transmembrana em Fibrose Cística/genética , Análise Mutacional de DNA , Reações Falso-Positivas , Técnicas Genéticas , Humanos , Recém-Nascido , Masculino , Mutação Puntual , Reação em Cadeia da Polimerase , Tripsina/análiseRESUMO
Intrafamilial transmission of Epstein-Barr virus infections was studied in 35 familial. After infectious mononucleosis was diagnosed in an index child, all siblings were tested for antibodies to EBV. Susceptible children were retested in four to eight weeks. In five families, a concurrent seroconversion was detected in an asymptomatic younger child. Two of 35 seronegative siblings developed clinical IM, confirmed serologically, during the study period. Overall, there evidence of spread in 7 (20%) of the 35 families. We conclude that there is significant intrafamilial transmission of IM. Our findings are compatible with an incubation period of four to six weeks.