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| Duque,Julio Alejandro Peña; Ferreira,Charles Francisco; Zachia,Suzana de Azevedo; Sanseverino,Maria Teresa Vieira; Gus,Rejane; Magalhães,José Antônio de Azevedo. |
| Abstract Trisomy 18 (T18) and trisomy 13 (T13) are polymalformative syndromes associated with a high rate of spontaneous abortions, intrauterine death, and short postnatal life. This study describes the overall outcome in a country where the therapeutic interruption of pregnancy is not available. The medical records of women with prenatal diagnosis of full trisomy of T13 or T18 between October 1994 and October 2017 were analyzed in order to describe their natural outcomes. Thirteen cases of T13 and 29 cases of T18 were included. The miscarriage rate was 9% for T18 and no cases for T13. Intrauterine fetal death occurred in 46% and 52% of cases for T13 and T18, respectively. The rate of live births for T13 was 54%, and the median survival was one day (95% CI... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Natural history of trisomy; Trisomy 13; Trisomy 18; Prenatal diagnosis; Genetic counseling. |
| Ano: 2019 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000200286 |
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| Michels,Marcus; Matte,Ursula; Fraga,Lucas Rosa; Mancuso,Aline Castello Branco; Ligabue-Braun,Rodrigo; Berneira,Elias Figueroa Rodrigues; Siebert,Marina; Sanseverino,Maria Teresa Vieira. |
| Abstract Pathogenic variants in the Cystic Fibrosis Transmembrane Conductance Regulator gene (CFTR) are responsible for cystic fibrosis (CF), the commonest monogenic autosomal recessive disease, and CFTR-related disorders in infants and youth. Diagnosis of such diseases relies on clinical, functional, and molecular studies. To date, over 2,000 variants have been described on CFTR (~40% missense). Since few of them have confirmed pathogenicity, in silico analysis could help molecular diagnosis and genetic counseling. Here, the pathogenicity of 779 CFTR missense variants was predicted by consensus predictor PredictSNP and compared to annotations on CFTR2 and ClinVar. Sensitivity and specificity analysis was divided into modeling and validation phases using... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: CFTR; Missense variant; Prediction; Bioinformatics; Cystic fibrosis. |
| Ano: 2019 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000400560 |
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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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