Ancestry of the Brazilian TP53 c.1010G>A (p.Arg337His, R337H) founder mutation : clues from haplotyping of short tandem repeats on Chromosome 17p

Rare germline mutations in TP53 (17p13.1) cause a highly penetrant predisposition to a specific spectrum of early cancers, defining the Li-Fraumeni Syndrome (LFS). A germline mutation at codon 337 (p.Arg337His, c1010G>A) is found in about 0.3% of the population of Southern Brazil. This mutation is associated with partially penetrant LFS traits and is found in the germline of patients with early cancers of the LFS spectrum unselected for familial his- tory. To characterize the extended haplotypes carrying the mutation, we have genotyped 9 short tandem repeats on chromosome 17p in 12 trios of Brazilian p.Arg337His carriers. Results confirm that all share a common ancestor haplotype of Caucasian/Portuguese-Ibe- ric origin, distant in about 72–84 generations (2000 years assuming a 25 years intergenera- tional distance) and thus pre-dating European migration to Brazil. So far, the founder p. Arg337His haplotype has not been detected outside Brazil, with the exception of two resi- dents of Portugal, one of them of Brazilian origin. On the other hand, increased meiotic recombination in p.Arg337His carriers may account for higher than expected haplotype diversity. Further studies comparing haplotypes in populations of Brazil and of other areas of Portuguese migration are needed to understand the historical context of this mutation in Brazil.

Repeated assessment and practice effects of the written symbol digit modalities test using a short inter-test interval

The Symbol Digit Modalities Test (SDMT) is a widely used instrument to assess information processing speed, attention, visual scanning, and tracking. Considering that repeated evaluations are a common need in neuropsychological assessment routines, we explored test–retest reliability and practice effects of two alternate SDMT forms with a short inter-assessment interval. A total of 123 university students completed the written SDMT version in two different time points separated by a 150-min interval. Half of the participants accomplished the same form in both occasions, while the other half filled different forms. Overall, reasonable test–retest reliabilities were found (r = .70), and the subjects that completed the same form revealed significant practice effects (p < .001, dz = 1.61), which were almost non-existent in those filling different forms. These forms were found to be moderately reliable and to elicit a similar performance across participants, suggesting their utility in repeated cognitive assessments when brief inter-assessment intervals are required.

Psychometric properties of the Portuguese version of the Posttraumatic Growth Inventory Short Form among divorced adults

The aim of this study was to develop and validate a Portuguese version of the Short Form of the Posttraumatic Growth Inventory (PTGI-SF). Using an online convenience sample of Portuguese divorced adults (N = 482), we confirmed the oblique five-factor structure of the PTGI-SF by confirmatory factor analysis. The results demonstrated the measurement invariance across divorce initiator status groups. Total score and factors of PTGI-SF showed good internal consistency, with the exception of the New Possibilities factor, which revealed an acceptable reliability. The Portuguese PTGI-SF showed a satisfactory convergent validity. In terms of discriminant validity, posttraumatic growth assessed by the Portuguese PTGI-SF was a distinct factor from posttraumatic psychological adjustment. These preliminary findings suggest the cultural adaptation and also psychometric properties of the present Portuguese PTGI-SF to measure posttraumatic growth after personal crisis.

Imagens, fragmentos, ligações: sobre Short Movies de Gonçalo M. Tavares

O processo criativo de Gonçalo M. Tavares tende a um exercício frequente de economia ou de depuração verbal facilmente conciliável com a sua adesão à densidade e à intensidade do registo fragmentário encarado como nova epistemologia poética. Recorrendo ao conceito de 'frase-imagem' de Rancière com o qual nos propomos ler as 'curta-metragens' de Short Movies, ponderamos neste ensaio certos tipos de operações com as quais o autor produz literariamente experiências visuais e audiovisuais. Neste livro, o exercício sobre a relação entre escrita e imagem supõe um trabalho sobre a palavra que se faz contra a sua habitual função lógica e ordenadora, no sentido não de promover mas de restringir ou pelo menos de desestabilizar a discursividade e a interpretabilidade. Como se se pretendesse operar uma conversão das apetências narrativizadoras dos signos verbais e da sua capacidade para o "telling", nas aptidões ‘monstrativas’ da visualidade fílmica e do seu típico "showing".