Identification and frequencies of cystic fibrosis mutations in central Argentina.

BACKGROUND: The Argentinian population is mainly of Caucasian origin, with a small contingent of indigenous descent. The aim of this study is to test the hypothesis that a panel of mutations designed for European countries is not optimal as a first-line molecular diagnosis for routine use in this country of mixed European origin. METHODS: Phenotype analyses combined with a European screening panel of 71 mutations followed by Sanger sequencing and large rearrangement study, were used to characterize the identification and distribution of CFTR mutations in the Santa Fe province of Argentina. RESULTS: Clinical review of 121 subjects suspected of CF during childhood led to selection of 83 unrelated patients. Thirty four different mutations, including two new ones, c.2554dupT and p.Leu49Pro, were detected. The total sensitivity was 91% (n = 151/166 alleles). CONCLUSIONS: Frequencies of CFTR mutations in Argentinian populations differ from those of their European ancestry. A new first line panel of 21 CFTR mutations with a sensitivity of 84% is proposed for routine use in central Argentina.

[Conservation of Malassezia strains in blotting paper]. / Empleo de discos de papel secante para la conservación de cepas de Malassezia spp.

Reference strains belonging to the genus Malassezia were analyzed to evaluate, by comparison, different preservation systems such us subculture, freezing at -80 degrees C in glycerol, and blotting paper-disc conservation. The viability, phenotypic and genotypic characteristics of the strains used in this study was evaluated. The blotting paper method was found to be advantageous to preserve Malassezia spp strains due to both, its simple implementation in the laboratory and its efficiency.

Identificación y epidemiología de las distintas especies de Malassezia en la ciudad de Rosario / Identification and epidemiology of the different species of Malassezia in the city of Rosario, Argentina

Las especies del género Malassezia han sido exhaustivamente estudiadas en estos últimos años, tanto desde el punto de vista fenotípico como desde las pruebas fisiológicas y características genotípicas. En tal sentido, se han incorporado las especies M. Globosa, M. slooffiae, M. restricta y M. obtusa a las ya conocidas M. furfur, M. pachydermatis y M. sympodialis. El objetivo de este trabajo fue, teniendo en cuenta estos estudios taxonómicos, identificar las distintas especies de Malassezia en muestras provenientes de pacientes con pitiriasis versicolor, dermatitis seborreica y foliculitis que consultaron al Servicio de Dermatología, en el Hospital Provincial "Centenario" de Rosario. Las especies más frecuentemente halladas en la población estudiada fueron M. sympodialis, seguida por M obtusa, M. slooffiae y, con menor frecuencia, M furfur.