Evaluation of the reasons for nonacceptance of kidneys retrieved or offered in Rio Grande do Sul and Pais Vasco.

In Rio Grande do Sul (RS), as in Pais Vasco (PV), some kidneys are retrieved or offered and not accepted for transplantation. This study aimed to evaluate the profile of the available kidneys and the reasons for them not being accepted in the 2 regions, and to compare the characteristics of the organs and reasons for refusal. All of the kidneys retrieved or offered in RS in December 2012 and in PV from September to December 2012 were evaluated. Data were collected from each local donation registry. There were 61 kidneys available in RS and 61 in PV in the study period. Of these, 16 kidneys (26%) in RS and 27 (44%) in PV were not implanted. The age of the donors was higher in PV (59 years) than in RS (45 years; P = .000), as was the age of the donors of accepted kidneys (62 and 41 years old, respectively; P = .000). The proportion of donors considered to be "extended criteria" was higher in PV (78%) than in RS (47%; P = .001), and the refusal rate of the kidneys from these donors was the same in the 2 regions. The reasons for not using the kidneys in RS and in PV were similar and absolute. It is concluded that there is no organ waste in the 2 regions, but that the offer of kidneys can be expanded in RS by considering elderly donors for evaluation, even if this means a higher number of refused organs.

Beta-thalassemia mutations in the Portuguese population.

In this study we have carried out haplotype analysis on the beta-globin gene cluster and characterized the beta-thalassemia mutation by oligonucleotide hybridization in 14 patients with thalassemia major and 5 with sickle cell/beta-thalassemia originating from southern Portugal. We found that three mutations, namely the beta(0)-39, beta(0) IVS-1 nt 1 and beta(+) IVS-1 nt 110 are prevalent accounting for 53%, 32% and 10% of the beta-thalassemia chromosomes respectively. In general each mutation was associated with a specific chromosomal haplotype; the beta(0)-39 mutation, however, was linked to three different haplotypes. These results indicate that three oligo-probes complementary to the most common mutations allow prenatal diagnosis by oligonucleotide analysis in 96% of the couples at risk of having offspring with thalassemia major in southern Portugal.

[A case of Schwartz syndrome (author's transl)]. / Síndrome de Schwartz. A propósito dum caso clínico.

Authors described a case of Schwartz syndrome in a two year old child, whose rare and typical clinical picture was characterized by blepharophimosis, myopia, typical facial signs, myotonia, muscular atrophy and articular motility restriction, which microscopical analysis study was requested.