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| Mazzu-Nascimento,Thiago; Melo,Débora Gusmão; Morbioli,Giorgio Gianini; Carrilho,Emanuel; Vianna,Fernanda Sales Luiz; Silva,André Anjos da; Schuler-Faccini,Lavinia. |
| Abstract Congenital anomalies are already the second cause of infant mortality in Brazil, as in many other middle-income countries in Latin America. Birth defects are a result of both genetic and environmental factors, but a multifactorial etiology has been more frequently observed. Here, we address the environmental causes of birth defects – or teratogens – as a public health issue and present their mechanisms of action, categories and their respective maternal-fetal deleterious effects. We also present a survey from 2008 to 2013 of Brazilian cases involving congenital anomalies (annual average of 20,205), fetal deaths (annual average of 1,530), infant hospitalizations (annual average of 82,452), number of deaths of hospitalized infants (annual average of... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Birth defects; Teratogens; Zika virus; Pregnancy; Public health. |
| Ano: 2017 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000300387 |
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| E. Castilla,Eduardo; Schuler-Faccini,Lavinia. |
| Here we propose a registration process for population genetic isolates, usually geographic clusters of genetic disorders, based on the systematic search of rumors, defined as any type of account regardless of its reliability. Systematically ascertained rumors are recorded, and validated through a progressive process of pre-established steps. This paper outlines the conceptual basis for this approach and presents the preliminary results from a rumor-based nationwide registry of genetically isolated populations, named CENISO (Censo Nacional de Isolados), operating in Brazil since 2009. During the first four years of its existence (2009-2013), a total of 191 Rumors were registered and validated, resulting in a prevalence rate of one per million inhabitants of... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Rumors; Disease clustering; Genetic diseases; Population registers; Brazil. |
| Ano: 2014 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000200005 |
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| Penchaszadeh,Victor B.; Schuler-Faccini,Lavinia. |
| Over the past three decades, there has been an accelerated development of genetic technology, leading to its use in human genetic identification for many purposes. Additionally, it has been made explicit that identity is a fundamental human right. A number of historical circumstances have connected these developments. Personal identity is increasingly associated with the preservation and defense of human rights and is a tool to repair the violation of these rights, particularly the right to identity. In this article, we report the use of genetics to support the right to identity in two historical circumstances. First, we report the search, localization, DNA testing and genetic identification of 110 individuals who were appropriated as babies by the... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Genetics and human rights; Suppression of identity; Leprosy; Argentina; Brazil. |
| Ano: 2014 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000200016 |
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| Oliveira-Klein,Mariana de; Cardoso-dos-Santos,Augusto César; Tagliani-Ribeiro,Alice; Fagundes,Nelson Rosa; Matte,Ursula; Schuler-Faccini,Lavinia. |
| Abstract Insulin-like growth factor (IGF-1) is an important peptide hormone involved in the reproduction and fetal development of mammals, and it is suggested that it may influence the human twinning rate. This study aimed to test such possible association, investigating the genetic polymorphisms IGF1 (CA)n and IGFBP3 rs2854744 in the population from Candido Godoi (CG), a small city located in the South of Brazil that has a high prevalence of twin births. A case-control study was performed comprising a total of 39 cases (representing about 40% of the mothers of twins who were born in CG after 1995) and 214 controls (mothers of non-twin children), 97 of whom were living in CG while 117 were living in Porto Alegre. DNA was extracted from blood leucocytes and... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Insulin-like growth factor; Founder effect; Microsatellite; Reproduction; Twinning. |
| Ano: 2018 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000500775 |
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