8 documents found, page 1 of 1
From abortion-inducing medications to Zika Virus Syndrome: 27 years experience ...
Schüler-Faccini,Lavinia; Sanseverino,Maria Teresa Vieira; Abeche,Alberto Mantovani; Vianna,Fernanda Sales Luiz; Fraga,Lucas RosaAbstract 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 ...
The natural history of pregnancies with prenatal diagnosis of Trisomy 18 or Tri...
Duque,Julio Alejandro Peña; Ferreira,Charles Francisco; Zachia,Suzana de Azevedo; Sanseverino,Maria Teresa Vieira; Gus,RejaneAbstract 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 ...
Determining the pathogenicity of CFTR missense variants: Multiple comparisons o...
Michels,Marcus; Matte,Ursula; Fraga,Lucas Rosa; Mancuso,Aline Castello Branco; Ligabue-Braun,Rodrigo; Berneira,Elias Figueroa Rodrigues; Siebert,MarinaAbstract 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 t...
Prevalência das malformações congênitas identificadas em fetos com trissomia do...
Emer,Caroline Soares Cristofari; Duque,Julio Alejandro Peña; Müller,Ana Lúcia Letti; Gus,Rejane; Sanseverino,Maria Teresa Vieira; Silva,André Anjos daOBJETIVO: Descrever a prevalência das malformações encontradas nos fetos com trissomia dos cromossomos 13, 18 e 21, identificando as mais frequentes em cada condição. MÉTODOS: Estudo transversal retrospectivo, com análise dos casos de trissomias dos cromossomos 13, 18 e 21 que foram diagnosticados pelo cariótipo fetal obtido por amniocentese/cordocentese, entre outubro de 1994 e maio de 2014, em um Hospital de ...
Hidropisia fetal não imune: experiência de duas décadas num hospital universitário
Fritsch,Alessandra; Müller,Ana Lúcia Letti; Sanseverino,Maria Teresa Vieira; Kessler,Rejane Gus; Barrios,Patricia Martins Moura; Patusco,Lucas MohrOBJETIVO: Identificar a etiologia da hidropisia fetal não imune em gestantes diagnosticadas e encaminhadas para acompanhamento pré-natal. MÉTODOS: Estudo retrospectivo com análise dos casos de hidropisia fetal não imune que foram acompanhados entre março de 1992 e dezembro de 2011. Os casos tiveram confirmação diagnóstica pela presença de edema de subcutâneo fetal (≥5 mm) com derrame em pelo menos uma cavidade ...
Exposure to misoprostol and hormones during pregnancy and risk of congenital an...
Dal Pizzol,Tatiane da Silva; Sanseverino,Maria Teresa Vieira; Mengue,Sotero SerrateThis study evaluated the association between use of misoprostol and other drugs to induce menstruation, and congenital anomalies. A sample of 4,856 pregnant women 20 years and older were enrolled consecutively in prenatal services in the Unified National Health System, in six Brazilian State capitals. Data on socio-demographics and use of medicines were obtained using an interview from the 21st to 28th week of ...
Avaliação de teratógenos potenciais na população brasileira
Schüler-Faccini,Lavínia; Leite,Júlio César Loguercio; Sanseverino,Maria Teresa Vieira; Peres,Rossana MizunskiO fato de agentes ambientais, nomeadamente fármacos, infecções maternas, e agentes químicos ou físicos poderem causar danos ao embrião ou feto em desenvolvimento é um problema reconhecido principalmente a partir do século 20. Nos países em desenvolvimento, existem características especiais que podem tornar esse problema mais agudo. Essas características incluem níveis educacionais e econômicos baixos da populaç...
Reproductive outcomes in an area adjacent to a petrochemical plant in southern ...
Oliveira,Lenice Minussi; Stein,Nina; Sanseverino,Maria Teresa Vieira; Vargas,Vera Maria Ferrão; Fachel,Jandyra Maria Guimarães; Schüler,LavíniaOBJECTIVE: To evaluate possible adverse reproductive outcomes in an area adjacent to a petrochemical plant in southern Brazil. METHODS: A review of 17,113 birth records of the main hospital of the municipality of Montenegro, southern Brazil, from 1983 to 1998 was carried out. Three groups of cases were selected: (1) newborns with major congenital malformations; (2) newborns with low birth weight (<2,500 g); and...