RESUMEN
Cystic Fibrosis (CF) is one of the most common single-gene defects in European descent populations with an incidence of about 1 in every 2500 live births and carrier frequency of approximately 1 in 25. The most common mutation at the CF transmembrane conductance regulator (CFTR) gene is a deletion (p.F508del) of the phenylalanine codon 508; its frequency, however, is not the same throughout the world. The purpose of this paper is to document an application of a two-tier survey design in different states of Brazil, from which regional differences of the incidence of CF and frequency of CF-causing mutation(s) carriers can be for the first time estimated. We present data on genotype distributions in reference to p.F508del mutation in samples of newborns, adult controls and CF patients from five Brazilian states, in which a total of 2683 newborns born to Brazilian white parents and 500 African-Brazilians adult controls were screened, as well as 300 CF patients (262 European descents and 38 African descents) were genotyped. Our results suggest that the CF-incidence in different parts of Brazil may differ by almost 20-fold. For the five different states as a whole, nearly 48% of the CF-alleles carry the p.F508del mutation, which places the estimates of disease incidence and carrier frequencies for the Brazilian European descents as 1 in 7576 live births and 2.3%, respectively. The implications for prevention of CF and other rare Mendelian diseases through such surveys of mutation screening are discussed.
Asunto(s)
Regulador de Conductancia de Transmembrana de Fibrosis Quística/genética , Fibrosis Quística/epidemiología , Fibrosis Quística/genética , Tamizaje Masivo , Adolescente , Adulto , Población Negra/genética , Brasil/epidemiología , Niño , Preescolar , Femenino , Heterocigoto , Humanos , Incidencia , Indios Sudamericanos/genética , Lactante , Recién Nacido , Masculino , Mutación/genética , Prevalencia , Vigilancia de Guardia , Población Blanca/genéticaRESUMEN
Os autores relatam um caso de um recém-nascido com trombocitopenia e ausência bilateral de rádio (TAR). Trata-se de uma síndrome autossômica recessiva, onde neste caso os pais näo eram co-sanguíneos e as manifestaçöes clínicas começaram com o aparecimento de hematemese, petéquias e hemorragia umbilical na idade de 10 dias. Além de ausência de rádio apresentava também anomalias esqueléticas
Asunto(s)
Recién Nacido , Humanos , Masculino , Deformidades Adquiridas de la Mano/complicaciones , Radio (Anatomía)/anomalías , Trombocitopenia/complicaciones , Genes Recesivos , Esqueleto/anomalías , Síndrome , Trombocitopenia/diagnóstico , Trombocitopenia/genéticaRESUMEN
Os autores relatam três casos de Doença de Bowen, de localizaçäo perianal, sendo que dois apresentaram também lesöes vulvares e haviam sido submetidos anteriormente a vulvectomia simples por CARCINOMA "IN SITU". As lesöes perianais evoluiram assintomaticamente e uma vez estabelecida a suspeita diagnóstica, foram excisadas e submetidas a exame histopatológico que confirmou a natureza neoplásica das mesmas. Foram analisados o quadro clínico, etiologia, diagnóstico, diagnóstico diferencial e tratamento, comparando-os com os da literatura
