Browsing by Author "Repetto, G"

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    Correlation between phenotype and genotype in a group of patients with cystic fibrosis
    (2002) Navarro, H; Kolbach, M; Repetto, G; Guirales, E; Harris, P; Foradori, A; Poggi, H; Sanchez, I
    Background: Cystic fibrosis (CF) is the most common lethal autosomic disease in Caucasians, with a global incidence of 1:3000 newborns. More than 900 mutations have been described, involving the Cystic Fibrosis Trains membrane Regulator (CFTR). The DeltaF508 mutation is present in 60% of alleles studied worldwide. Aim: To report 25 patients with cystic fibrosis in whom a genetic study was done. Material and methods: Twenty five patients (14 men, aged between 18 months and 25 years) with a diagnosis of cystic fibrosis based on clinical features plus two abnormal sweat tests are reported. The genetic study considered the 20 most common mutations in cystic fibrosis and was done in genomic DNA of peripheral lymphocytes, by polymerase chain reaction. Results: A mutation was found in 75% of analyzed alleles. DeltaF508 was present in 50% of cases (DeltaF508/DeltaF508 in 8 and DeltaF508/other in 11). When DeltaF508 was present, pancreatic insufficiency was always a feature and nutritional status was worse. Respiratory involvement was variable, both for homozygous and heterozygous cases. Other severe mutations such as W1282X and G542X were related to clinical manifestations similar to those found in DeltaF508 mutation. Diagnosis was made before six months of age in 12 patients. The clinical presentation was meconium dens and there was a family history of the disease in most cases. The majority of cases of early diagnosis presented severe mutation, but milder respiratory symptoms and lesser nutritional compromise at the time of assessment. Conclusions: Most patients studied had a severe cystic fibrosis mutation, which was associated with more severe respiratory, pancreatic and nutritional involvement. The early diagnosis of the disease, which would allow to improve the prognosis and the quality of life, must be emphasized.
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    Ecotoxicological evaluation of the additive butylated hydroxyanisole using a battery with six model systems and eighteen endpoints
    (ELSEVIER SCIENCE BV, 2005) Jos, A; Repetto, G; Rios, JC; del Peso, A; Salguero, M; Hazen, MJ; Molero, ML; Fernandez Freire, P; Perez Martin, JM; Labrador, V; Camean, A
    The occurrence and fate of additives in the aquatic environment is an emerging issue in environmental chemistry. This paper describes the ecotoxicological effects of the commonly used additive butylated hydroxyanisole (BHA) using a test battery, comprising of several different organisms and in vitro test systems, representing a proportion of the different trophic levels. The most sensitive system to BHA was the inhibition of bioluminescence in Vibrio fischeri bacteria, which resulted in an acute low observed adverse effect concentration (LOAEC) of 0.28 muM. The next most sensitive system was the immobilization of the cladoceran Daphnia magna followed by: the inhibition of the growth of the unicellular alga Chlorella vulgaris; the endpoints evaluated in Vero (mammalian) cells (total protein content, LDH activity, neutral red uptake and MTT metabolization), mitotic index and root growth inhibition in the terrestrial plant Allium cepa, and finally, the endpoints used on the RTG-2 salmonid fish cell line (neutral red uptake, total protein content, MTS metabolization, lactate dehydrogenase leakage and activity, and glucose-6-phosphate dehydrogenase activity). Morphological alterations in RTG-2 cells were also assessed and these included loss of cells, induction of cellular pleomorphism, hydropic degeneration and induction of apoptosis at high concentrations. The results from this study also indicated that micronuclei were not induced in A. cepa exposed to BHA. The differences in sensitivity for the diverse systems that were used (EC50 ranged from 1.2 to >500 muM) suggest the importance for a test battery approach in the evaluation of the ecological consequences of chemicals. According to the results, the levels of BHA reported in industrial wastewater would elicite adverse effects in the environment. This, coupled with its potential to bioaccumulate, makes BHA a pollutant of concern not only for acute exposures, but also for the long-term. (C) 2004 Elsevier B.V. All rights reserved.
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    Y chromosome sequences in Turner's syndrome: Association with virilization and gonadoblastoma
    (FREUND PUBLISHING HOUSE LTD, 2003) Mancilla, EE; Poggi, H; Repetto, G; Rumie, H; Garcia, H; Ugarte, F; Hidalgo, S; Jara, A; Muzzo, S; Panteon, E; Torrealba, I; Foradori, A; Cattani, A
    The presence of Y chromosome fragments in patients with Turner's syndrome is known to increase the risk of gonadoblastoma and virilization. Y chromosome material is detected in up to 6% of patients with Turner's syndrome by karyotype. By DNA analysis, Y chromosome sequences have been reported in 0-60% of patients. The putative gonadoblastoma gene has been mapped to the pericentromeric region of the Y chromosome increasing the interest in studying these sequences.