The aim of this study was to detect chromosomal and molecular abnormalities in 16 Argentine families with retinoblastoma (RB). Chromosomes were analyzed by G-banding, DNA from leukocytes and tumors was studied by segregation of polymorphisms within RB gene (RB1) and the DNA from chorionic villus by sequencing. The karyotype of an Rb236 bilateral patient with dismorphic signs revealed a deletion in 13q13-21. Polymorphism and exon analyses showed a deletion in the 3' end of RB1 in an Rb72 patient. The mutant RB1 allele, detected by loss of heterozygosity (LOH) in the tumor, was identified in 14 out of 18 tumors. The analysis of chorionic villus revealed a mutation, a C-to-T transition in exon 18. Molecular and cytogenetic analyses in families with RB offer valuable information on how to assess the risk of tumor development.

Argentina↗

PubMedDate not supplied

[High altitude anemia: validity of definition criteria].

The effect of iron and folate supplementation on the hemoglobin response and iron status was studied in male and female equatorian medical students: 66 in Quito (2,800 m altitude) and 40 in Guayaquil (sea level). At the end of the supplementation, there was a nearly complete disappearance of biochemical evidence of iron deficiency in the two groups of students. In Quito, 30% of the men and 26% of the women increased their hemoglobin concentration by more than 1 g/dl after one month of supplementation and could be considered as true anemics, compared to 31% of the men and 29% of the women in Guayaquil. This study shows that at sea level, cut-off points defined by WHO for hemoglobin, taking as reference the impact of a supplementation trial, have a specificity of 100% but poor sensitivity (58%). For people living at high altitudes, cut-off limits adjusted for altitude seem unsuitable: the specificity is 98% but the sensitivity is 0%. Studies taking into account all the factors impacting on the hemoglobin level could be useful for defining cut-off points for high-altitude anemia better than those currently recommended.

Adult↗