Navegação Ciências da Saúde por Autor "Faccini, Lavinia Schuler"

Resultados 1-20 de 41

    • Assessment of fetal risk associated with exposure to cancer chemotherapy during pregnancy : a multicenter study 

      Peres, Rossana Mizunski; Sanseverino, Maria Teresa Vieira; Guimarães, José Luiz Miranda; Coser, Virgínia Maria; Giuliani, Liane de Rosso; Moreira, Roger Klein; Ornsten, Thor Gunnar Hugo; Faccini, Lavinia Schuler (2001) [Artigo de periódico]
      The objective of the present study was to evaluate and quantify fetal risks involved in the administration of cancer chemotherapy during gestation, as well as to assess the long-term effects on the exposed children. In ...

    • Avaliação de teratógenos potenciais na população brasileira : a experiência do Sistema Nacional de Informação sobre Agentes Teratogênicos (SIAT) 

      Faccini, Lavinia Schuler; Sanseverino, Maria Teresa Vieira; Peres, Rossana Mizunski (2001) [Artigo de periódico]
      O Sistema Nacional de Informações sobre Agentes Teratogênicos (SIAT) foi implantado em Porto Alegre, Rio Grande do Sul, em 1990, com a proposta de fornecer a médicos e à população em geral informações rápidas e atualizadas ...

    • Cancer-related worry and risk perception in Brazilian individuals seeking genetic counseling for hereditary breast cancer 

      Palmero, Edenir Inêz; Campacci, Natalia; Faccini, Lavinia Schuler; Giugliani, Roberto; Rocha, José Cláudio Casali da; Vargas, Fernando Regla; Prolla, Patrícia Ashton (2020) [Artigo de periódico]
      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 ...

    • Clinical and molecular characterization of a brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations 

      Mattos, Eduardo Preusser de; Sanseverino, Maria Teresa Vieira; Magalhães, Jose Antonio de Azevedo; Leite, Júlio César Loguercio; Felix, Temis Maria; Todeschini, Luis Alberto; Cavalcanti, Denise P.; Faccini, Lavinia Schuler (2015) [Artigo de periódico]
      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 ...

    • Comparative genomics identifies putative interspecies mechanisms underlying crbn-sall4-linked thalidomide embryopathy 

      Kowalski, Thayne Woycinck; Garcia, Gabriela Barreto Caldas; Gomes, Julia do Amaral; Fraga, Lucas Rosa; Faccini, Lavinia Schuler; Recamonde-Mendoza, Mariana; Paixão Côrtes, Vanessa Rodrigues; Vianna, Fernanda Sales Luiz (2021) [Artigo de periódico]
      The identification of thalidomide–Cereblon-induced SALL4 degradation has brought new understanding for thalidomide embryopathy (TE) differences across species. Some questions, however, regarding species variability, still ...

    • Development and validation of a simple questionnaire for the identification of hereditary breast cancer in primary care 

      Prolla, Patrícia Ashton; Giacomazzi, Juliana; Schmidt, Aishameriane Venes; Roth, Fernanda Lenara; Palmero, Edenir Inêz; Kalakun, Luciane; Aguiar, Ernestina Silva de; Moreira, Susana Mayer; Batassini, Érica; Belo-Reyes, Vanessa; Faccini, Lavinia Schuler; Giugliani, Roberto; Caleffi, Maira; Camey, Suzi Alves (2009) [Artigo de periódico]
      Background: Breast cancer is a significant public health problem worldwide and the development of tools to identify individuals at-risk for hereditary breast cancer syndromes, where specific interventions can be proposed ...

    • Epidemiological profile of 39 cases of microcephaly caused by congenital infections diagnosed in the state of Rio Grande do Sul between 2015-2017 

      Herber, Silvani; Terra, Anna Pires; Silva, André Anjos da; Sanseverino, Maria Teresa Vieira; Fraga, Lucas Rosa; Vianna, Fernanda Sales Luiz; Schwartz, Ida Vanessa Doederlein; Faccini, Lavinia Schuler; Friedrich, Luciana (2019) [Artigo de periódico]
      Introduction: Microcephaly is a clinical finding that can arise from congenital anomalies or emerge after childbirth. Maternal infections acquired during pregnancy can result in characteristic brain damage in the newborn ...

    • Epidemiological surveillance of birth defects compatible with thalidomide embryopathy in Brazil 

      Vianna, Fernanda Sales Luiz; Lopez-Camelo, Jorge S.; Leite, Júlio César Loguercio; Sanseverino, Maria Teresa Vieira; Dutra, Maria da Graca; Castilla, Eduardo Enrique; Faccini, Lavinia Schuler (2011) [Artigo de periódico]
      The thalidomide tragedy of the 1960s resulted in thousands of children being born with severe limb reduction defects (LRD), among other malformations. In Brazil, there are still babies born with thalidomide embryopathy ...

    • Epidemiology of rare diseases in Brazil : protocol of the Brazilian Rare Diseases Network (RARAS-BRDN) 

      Felix, Temis Maria; Oliveira, Bibiana Mello de; Artifon, Milena; Carvalho, Isabelle; Bernardi, Filipe Andrade; Schwartz, Ida Vanessa Doederlein; Saute, Jonas Alex Morales; Ferraz, Victor Evangelista de Faria; Acosta, Angelina Xavier; Sorte, Ney Boa; Alves, Domingos Savio do Nascimento; Faccini, Lavinia Schuler; Giugliani, Roberto; Sanseverino, Maria Teresa Vieira; RARAS Network Group (2022) [Artigo de periódico]
      The Brazilian Policy of Comprehensive Care for People with Rare Diseases (BPCCPRD) was established by the Ministry of Health to reduce morbidity and mortality and improve the quality of life of people with rare diseases ...

    • Evaluation of polymorphisms in toll-like receptor genes as biomarkers of the response to treatment of Erythema nodosum leprosum 

      Fiuza, Miriãn Ferrão Maciel; Costa, Perpétua do Socorro Silva; Kowalski, Thayne Woycinck; Faccini, Lavinia Schuler; Bonamigo, Renan Rangel; Vetoratto, Rodrigo; Eidt, Leticia Maria; Moraes, Paulo Cezar de; Silveira, Maria Irismar da Silva; Camargo, Luís Marcelo Aranha; Callegari-Jacques, Sidia Maria; Castro, Stela Maris de Jezus; Vianna, Fernanda Sales Luiz (2022) [Artigo de periódico]
      Erythema nodosum leprosum (ENL) is an inflammatory complication caused by a dysregulated immune response to Mycobacterium leprae. Some Toll-like receptors (TLRs) have been identified as capable of recognizing antigens from ...

    • Exposição a contaminantes ambientais durante a gestação e seus efeitos sobre a saúde fetal : uma revisão da literatura 

      Peres, Rossana Mizunski; Sanseverino, Maria Teresa Vieira; Faccini, Lavinia Schuler (2001) [Artigo de periódico]
      A exposição humana a contaminantes ambientais é onipresente. Uma grande preocupação em relação à população que vive perto de fontes poluentes é o risco potencial de efeitos adversos para as gestações, especialmente defeitos ...

    • A exposição pré-natal ao álcool como fator de risco para comportamentos disfuncionais : o papel do pediatra 

      Momino, Wakana; Sanseverino, Maria Teresa Vieira; Faccini, Lavinia Schuler (2008) [Artigo de periódico]
      Objetivo: Ainda que as características clássicas da síndrome fetal alcoólica tenham sido descritas desde 1968, a pesquisa sobre a teratogênese do álcool apenas recentemente demonstrou que o cérebro é o órgão do corpo mais ...

    • Gene panel for the diagnosis of epidermolysis bullosa : proposal for a viable and efficient approach 

      Mariath, Luiza Monteavaro; Kiszewski, Ana Elisa; Frantz, Jeanine Aparecida; Siebert, Marina; Matte, Ursula da Silveira; Faccini, Lavinia Schuler (2021) [Artigo de periódico]
      Background: Epidermolysis bullosa is characterized by cutaneous fragility and blistering. His-torically, diagnosis is achieved by immunofluorescence mapping or transmission electronmicroscopy, both involving biopsy procedures. ...

    • Genetic counseling and presymptomatic testing programs for Machado-Joseph Disease : lessons from Brazil and Portugal 

      Faccini, Lavinia Schuler; Osorio, Claudio Maria da Silva; Ferreira, Flávia Romariz; Paneque, Milena; Sequeiros, Jorge; Jardim, Laura Bannach (2014) [Artigo de periódico]
      Machado-Joseph disease (MJD) is an autosomal dominant, late-onset neurological disorder and the most common form of spinocerebellar ataxia (SCA) worldwide. Diagnostic genetic testing is available to detect the disease-causing ...

    • Genetic susceptibility to drug teratogenicity: a systematic literature review 

      Gomes, Julia do Amaral; Olstad, Emilie Willoch; Kowalski, Thayne Woycinck; Gervin, Kristina; Vianna, Fernanda Sales Luiz; Faccini, Lavinia Schuler; Nordeng, Hedvig Marie Egeland (2021) [Artigo de periódico]
      Since the 1960s, drugs have been known to cause teratogenic effects in humans. Such teratogenicity has been postulated to be influenced by genetics. The aim of this review was to provide an overview of the current knowledge ...

    • GSTM1, GSTT1, and GSTP1 polymorphisms, breast cancer risk factors and mammographic density in women submetted to breast cancer screening 

      Aguiar, Ernestina Silva de; Giacomazzi, Juliana; Schmidt, Aishameriane Venes; Bock, Hugo; Pereira, Maria Luiza Saraiva; Faccini, Lavinia Schuler; Duarte Filho, Dakir Lourenço; Santos, Pollyanna Almeida Costa dos; Giugliani, Roberto; Caleffi, Maira; Camey, Suzi Alves; Prolla, Patrícia Ashton (2012) [Artigo de periódico]
      Polimorfismos genéticos em genes relacionados com o metabolismo de xenobióticos, como os genes da superfamília das glutationa S-transferases (GSTM1, GSTT1 e GSTP1) têm sido associados com o aumento do risco para câncer de ...

    • Impact on pregnancies in South Brazil from the influenza A (H1N1) pandemic : cohort study 

      Silva, André Anjos da; Ranieri, Tani Schilling; Torres, Fernanda Duarte; Sales, Fernando; Vianna, Luiz; Paniz, Graziella Rangel; Sanseverino, Paula Baptista; Picon, Paulo Dornelles; Azevedo, Pietro Baptista de; Costa, Marta Haas; Faccini, Lavinia Schuler; Sanseverino, Maria Teresa Vieira (2014) [Artigo de periódico]
      Introduction: The emergence of a new subtype of the influenza virus in 2009 generated interest in the international medical community, the media, and the general population. Pregnant women are considered to be a group at ...

    • Information and diagnosis networks : tools to improve diagnosis and treatment for patients with rare genetic diseases 

      Vieira, Taiane Alves; Trapp, Franciele Barbosa; Souza, Carolina Fischinger Moura de; Faccini, Lavinia Schuler; Jardim, Laura Bannach; Schwartz, Ida Vanessa Doederlein; Riegel, Mariluce; Vargas, Carmen Regla; Burin, Maira Graeff; Leistner-Segal, Sandra; Prolla, Patrícia Ashton; Giugliani, Roberto (2019) [Artigo de periódico]
      Brazil is a country of continental dimensions and most genetic services are concentrated in the Southeast and South, including the Medical Genetics Service of the Hospital de Clínicas de Porto Alegre (MGS/HCPA). As many ...

    • Is intrauterine exposure to acetaminophen associated with emotional and hyperactivity problems during childhood? : findings from the 2004 Pelotas birth cohort 

      Rodrigues, Luciana Tovo; Schneider, Bruna Celestino; Silva, Thais Martins da; Silva, Bianca Del Ponte da; Loret De Mola, Christian; Faccini, Lavinia Schuler; Vianna, Fernanda Sales Luiz; Munhoz, Tiago Neuenfeld; Entiauspe, Ludmila Gonçalves; Silveira, Mariângela Freitas da; Santos, Iná da Silva dos; Matijasevich, Alicia; Barros, Aluisio Jardim Dornellas de; Rohde, Luis Augusto Paim; Bertoldi, Andréa Dâmaso (2018) [Artigo de periódico]
      Background: Longitudinal studies have consistently reported that prenatal exposure to acetaminophen can to lead to an increased risk of attention deficit-hyperactivity disorder during childhood. This study aimed to investigate ...

    • Maternal drinking behavior and fetal alcohol spectrum disorders in adolescents with criminal behavior in southern Brazil 

      Momino, Wakana; Felix, Temis Maria; Abeche, Alberto Mantovani; Zandoná, Denise Isabel; Scheibler, Gabriela Gayer; Chambers, Christina; Jones, Kenneth Lyons; Flores, Renato Zamora; Faccini, Lavinia Schuler (2012) [Artigo de periódico]
      Prenatal alcohol exposure can have serious and permanent adverse effects. The developing brain is the most vulnerable organ to the insults of prenatal alcohol exposure. A behavioral phenotype of prenatal alcohol exposure ...