ABSTRACT
El sangrado por el pezón (telorragia) es un signo clínico raro en la población pediátrica, siendo la ectasia ductal mamaria la causa más frecuente. Se trata de un proceso benigno y autolimitado, por lo que se recomienda adoptar una actitud expectante, evitando la realización de pruebas invasoras, y tranquilizar a la familia a la espera de la resolución espontánea (AU)
Bloody nipple discharge, or telorrhagia, is a rare manifestation in the pediatric population that in most cases is secondary to mammary duct ectasia. It is a benign and self-limiting disease, so a watchful waiting approach is recommended, avoiding invasive tests and reassuring the family while awaiting spontaneous resolution. (AU)
Subject(s)
Humans , Male , Infant , Nipples/pathology , Hemorrhage/diagnosis , Dilatation, PathologicABSTRACT
We conducted clinical and genetic analyses of 52 cystic fibrosis (CF) patients in Uruguay, which is about half of the known affected individuals in the country. A relatively high proportion had a mild presentation, characterized by pancreatic sufficiency (28), a strong pulmonary component (97), and borderline sweat electrolyte measurements (25). Mutational analysis of CF chromosomes demonstrated a relatively low incidence of the DeltaF508 allele (40) and a large number of other cystic fibrosis conductance regulator mutations, with an overall detection rate of about 71. Fifteen different mutations were detected in our patients: DeltaF508, G542X, R1162X, G85E, N1303K, R334W, R75Q, R74W, D1270N, W1282X, DeltaI507, 2789+5G-->A, R1066C, -816C/T, R553X, as well as RNA splicing variant IVS8-5T. This group of Uruguayan CF patients has some characteristics in common with other populations of similar origin (Hispanics), as well as some unique characteristics
Subject(s)
Humans , Cystic Fibrosis/genetics , Mutation/genetics , Cystic Fibrosis Transmembrane Conductance Regulator/genetics , Alleles , DNA Mutational Analysis , Genotype , UruguayABSTRACT
Polish CF patients were screened extensively for mutations in the CFTR gene. Screening data demonstrated a high heterogeneity of CFTR mutations in the Polish population. Total 30 different mutations were characterised in 24 exons or introns of the gene. Among them, six mutations have been reported for the first time and submitted to the CF Genetic Analysis Consortium. In addition, 15 different polymorphisms were found, including three new ones. The screening resulted in 9% increase of the detection rate of CFTR alleles in the tested population. Frequencies of two of the identified mutations (CFTRdele2,3 and 2184insA) are relatively high (2.6% and 1%, respectively) and justify their inclusion into routinely screened mutations in genetic testing of Polish CF population.
