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.

Relações existentes entre o desempenho motor das habilidades locomotoras e o seu envolvimento no bullying escolar em crianças de 10 a 12 anos

Relatório de estágio de mestrado em Ensino de Educação Física nos Ensinos Básico e Secundário

Os programas de educação física e o desempenho motor na ginástica: um estudo exploratório com alunos do 12º ano de escolaridade

Relatório de estágio de mestre em Ensino de Educação Física nos Ensinos Básico e Secundário

Níveis de literacia mediática: Estudo exploratório com jovens do 12º ano

(Excerto) A Literacia para os Media, entendida como “a capacidade de aceder aos media, de compreender e avaliar de modo crítico os diferentes aspetos dos media e dos seus conteúdos e de criar comunicações em diversos contextos” (Recomendação da Comissão Europeia de 20 de agosto de 2009), é atualmente considerada uma via essencial para uma cidadania mais qualificada e uma sociedade mais inclusiva. O modo como os media habitam hoje os quotidianos, cria novas formas de lazer e de entretenimento e proporciona novos modos de trabalhar, de estudar, de conhecer o mundo, de comunicar, de estabelecer relações intersubjetivas e de nos informarmos e ser-mos informados. Tais mudanças, bem como as que ocorrem no ambiente mediático, tornam fundamental o aprender a ler e a analisar criticamente esses meios, os seus usos e apropriações e o saber criar, produzir e partilhar conteúdos.

Webfólio de aprendizagem: contributos para a promoção da autonomia e reflexividade em estudantes do 12º ano de escolaridade

Relatório de estágio de mestrado em Ensino de Informática

Infant’s psychophysiological profile and temperament at 3 and 12 months

This study is intended to analyze (1) differences in infant temperament at 3 and 12 months according to infants' psychophysiological profiles: "withdrawn" "extroverted", and "underaroused" and (2) changes in infant temperament from 3 to 12 months, namely according to the infant psychophysiological profile and the quality of mother-infant interaction. Ninety-four 8-week-old infants were assessed using the Neonatal Behavioral Assessment Scale (NBAS, Brazelton & Nugent, 1995) and the Alarm Distress Baby Scale (ADBB, Guedeney & Fermanian, 2001). Saliva samples were collected at 8-12 weeks old, both before and after a routine inoculation for cortisol reactivity measurement. Mother-infant interaction was evaluated at 12-16 weeks, using the Global Rating Scales (GRS, Murray, Fiori-Cowley, Hooper, & Cooper, 1996). Mothers' reports on infant temperament at 3 and 12 months were collected using the Infant Behavior Questionnaire (IBQ, Rothbart, 1981). Significant differences in mothers' perception of infant temperament were found at both 3 and 12 months in infants with distinct psychophysiological profiles. Stability was observed in most of the temperament's dimensions from 3 to 12 months old; still, there were changes in mothers' perception of infant temperament in terms of level of distress, cuddliness, sadness and approach. Infant psychophysiological profile and mother-infant interaction both influence with the pattern of those changes. The results corroborate that infant's characteristics early in life as well as contextual factors influence with mothers' perception of infant temperament and with changes across the 1st year of life.