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| Palmero,Edenir Inêz; Campacci,Natalia; Schüler-Faccini,Lavinia; Giugliani,Roberto; Rocha,José Claudio Casali da; Vargas,Fernando Regla; Ashton-Prolla,Patricia. |
| Abstract In Brazil, the population in general has little knowledge about genetic risks, as well as regarding the role and importance of the Cancer Genetic Counseling (CGC). The goal of this study was to evaluate cancer-related worry and cancer risk perception during CGC sessions in Brazilian women at-risk for hereditary breast cancer. This study was performed in 264 individuals seeking CGC for hereditary breast cancer. Both cancer-affected and unaffected individuals were included. As results, individuals with and without cancer reported different motivations for seeking CGC and undergoing genetic testing. A correlation was observed between age at the first CGC session and age at which the closest relative was diagnosed with cancer. Multivariate analysis... |
| Tipo: Info:eu-repo/semantics/other |
Palavras-chave: Hereditary breast cancer; Hereditary cancer; Cancer-related worry; Cancer risk perception; Genetic counselling. |
| Ano: 2020 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000400104 |
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| Schüler-Faccini,Lavinia; Sanseverino,Maria Teresa Vieira; Abeche,Alberto Mantovani; Vianna,Fernanda Sales Luiz; Fraga,Lucas Rosa; Rocha,Anastacia Guimaraes; Silva,André Anjos da; Souza,Paulo Ricardo Assis de; Hilgert,Artur Hartmann; Barbosa,Camila Pocharski; Kauppinem,Caroline Grasso; Martins,Daniela Fernandes; Santos,Daniela Silva; Colpes,Gabriel Henrique; Ecco,Gabriela; Silva,Helena Margot Flores Soares da; Penteado,Louise Piva; Santos,Tatiane dos. |
| Abstract In 1990, the first Teratogen Information Service in Brazil (SIAT) was implemented in the Medical Genetics Service at Hospital de Clinicas de Porto Alegre. SIAT is a free-to-use information service both to health professionals and the general population, especially to women who are pregnant or planning pregnancy. The main objective of this paper is to present the activities of SIAT in its initial years (1990-2006), compared to those in the last decade (2007-2017). In addition we review the scientific contribution of SIAT in the field of human teratogenesis. Since 1990, SIAT received 10,533 calls. Use of medications were the main reason for concern, accounting for 74% of all questions, followed by other chemical exposures (occupational, cosmetics,... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Teratogens; Pregnancy; Zika; Thalidomide; Misoprostol; Rubella. |
| Ano: 2019 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000200297 |
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| Mattos,Eduardo P.; Sanseverino,Maria Teresa V.; Magalhães,José Antônio A.; Leite,Júlio César L.; Félix,Temis Maria; Todeschini,Luiz Alberto; Cavalcanti,Denise P.; Schüler-Faccini,Lavinia. |
| Campomelic dysplasia (CD) is an autosomal, dominantly inherited, skeletal abnormality belonging to the subgroup of bent bone dysplasias. In addition to bowed lower limbs, CD typically includes the following: disproportionate short stature, flat face, micrognathia, cleft palate, bell-shaped thorax, and club feet. Up to three quarters of 46, XY individuals may be sex-reversed. Radiological signs include scapular and pubic hypoplasia, narrow iliac wings, spaced ischia, and bowed femora and tibiae. Lethal CD is usually due to heterozygous mutations in SOX9, a major regulator of chondrocytic development. We present a detailed clinical and molecular characterization of nine Brazilian CD patients. Infants were either stillborn (n = 2) or died shortly after birth... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Campomelic dysplasia; Skeletal dysplasia; Osteochondrodysplasias; SOX9; Prenatal diagnosis. |
| Ano: 2015 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572015000100014 |
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