Julgamentos sobre ações e sentimentos em interpretações de histórias: uma abordagem piagetiana

Este artigo apresenta dados selecionados a partir de pesquisa com 76 crianças de cinco a dez anos sobre interpretações de dois contos de fadas dos Irmãos Grimm: O lobo e os sete cabritinhos e Senhor lobo e senhora gata. O objetivo é discutir os julgamentos das crianças sobre ações e sentimentos de personagens dos contos, baseados nos conceitos de valores, julgamentos e apreciações emocionais, de Piaget. A hipótese geral foi a de que os julgamentos e a capacidade de avaliar sentimentos evoluem com a idade. O método utilizado foi a entrevista clínica piagetiana adaptada aos dois contos. Os resultados indicaram diferenças entre as crianças mais velhas e as mais jovens da amostra, mas as análises estatísticas não apontaram diferenças significativas para comparações entre crianças de faixas etárias mais próximas. Esta pesquisa contribuiu para a discussão sobre o uso de contos de fadas em estudos sobre valorizações afetivas e julgamentos em crianças.

O sexo sem lei, o poder sem rei: sexualidade, gênero e identidade no cotidiano travesti

Neste trabalho propomos questionar como são construídos e validados os discursos acerca de sexualidade, gênero e identidade sexual, a partir da história de vida de três irmãos homossexuais nascidos no interior do nordeste brasileiro. Ainda jovens, migraram para a cidade de Diadema - São Paulo, onde se tornaram, no decorrer de alguns anos, travestis e profissionais do sexo. A percepção da homossexualidade foi relatada como parte da infância, e sentida como uma força natural. Já, as transformações realizadas sobre o corpo decorrentes da travestilidade, a decisão pela prostituição, a orientação sexual (por homem ou por mulher), e a construção de uma identidade sexual (gay ou travesti), apareceram como instâncias dissociadas entre si e relacionadas à busca da valorização pessoal e social diante do estigma atribuído ao gay afeminado, pobre e migrante. A religiosidade afro-brasileira e a gramática yorubá assumiram relevância para a constituição desta possibilidade identitária.

Loss-of-function mutations in the genes encoding prokineticin-2 or prokineticin receptor-2 cause autosomal recessive Kallmann syndrome

Context: Physiological activation of the prokineticin pathway has a critical role in olfactory bulb morphogenesis and GnRH secretion in mice. Objective: To investigate PROK2 and PROKR2 mutations in patients with hypogonadotropic hypogonadism (HH) associated or not with olfactory abnormalities. Design: We studied 107 Brazilian patients with HH (63 with Kallmann syndrome and 44 with normosmic HH) and 100 control individuals. The coding regions of PROK2 and PROKR2 were amplified by PCR followed by direct automatic sequencing. Results: In PROK2, two known frameshift mutations were identified. Two brothers with Kallmann syndrome harbored the homozygous p. G100fsX121 mutation, whereas one male with normosmic HH harbored the heterozygous p. I55fsX56 mutation. In PROKR2, four distinct mutations (p. R80C, p. Y140X, p. L173R, and p. R268C) were identified in five patients with Kallmann syndrome and in one patient with normosmic HH. These mutations were not found in the control group. The p. R80C, p. L173R, and p. R268C missense mutations were identified in the heterozygous state in the HH patients and in their asymptomatic first-degree relatives. In addition, nomutations of FGFR1, KAL1, GnRHR, KiSS-1, or GPR54 were identified in these patients. Notably, the new nonsense mutation (p. Y140X) was identified in the homozygous state in an anosmic boy with micropenis, bilateral cryptorchidism, and high-arched palate. His asymptomatic parents were heterozygous for this severe defect. Conclusion: We expanded the repertoire of PROK2 and PROKR2 mutations in patients with HH. In addition, we show that PROKR2 haploinsufficiency is not sufficient to cause Kallmann syndrome or normosmic HH, whereas homozygous loss-of-function mutations either in PROKR2 or PROK2 are sufficient to cause disease phenotype, in accordance with the Prokr2 and Prok2 knockout mouse models.

A novel homozygous splice acceptor site mutation of KISS1R in two siblings with normosmic isolated hypogonadotropic hypogonadism

Context: Loss-of-function mutations of the kisspeptin-1 receptor gene, KISS1R, have been identified in patients with normosmic isolated hypogonadotropic hypogonadism (nIHH). Objective: To investigate KISS1R defects in patients with absent or delayed puberty. Patients: We investigated KISS1R gene defects in a cohort of 99 Brazilian patients with nIHH or constitutional delay of puberty (CDP). Methods: The entire coding region of KISS1R was amplified by PCR followed by automatic sequencing. In addition, screening for KISS1R exonic deletions was performed by multiplex ligation-dependent probe amplification. Results: One novel homozygous KISS1R mutation was identified in two siblings with nIHH. This variant was an insertion/deletion (indel) mutation characterized by the deletion of three nucleotides (GCA) at position -2 to -4, and by the insertion of seven nucleotides (ACCGGCT) at the same position, within the 30 splice acceptor site of intron 2 of KISS1R. The brothers who carried this KISS1R mutation had no clinical evidence of pubertal development at the ages of 14 and 20 years. Computational analysis of this indel mutation predicted the generation of an abnormal protein. In addition, a new heterozygous KISS1R variant (p.E252Q) was identified in a male patient with sporadic nIHH. However, in vitro studies of this variant did not demonstrate functional impairment. Only known polymorphisms were identified in patients with CDP. Conclusion: Loss-of-function mutations of KISS1R represents a rare cause of nIHH, and was absent in patients with CDP. We have described a novel KISS1R homozygous splice acceptor site mutation in the familial form of nIHH.