Zobrazeno 1 - 10
of 40
pro vyhledávání: '"Augusto César Cardoso dos Santos"'
Autor:
Aglaer Alves da Nobrega, Yluska Myrna Meneses Brandão e Mendes, Marina Jorge de Miranda, Augusto César Cardoso dos Santos, Andréa de Paula Lobo, Denise Lopes Porto, Giovanny Vinícius Araújo de França
Publikováno v:
Cadernos de Saúde Pública, Vol 38, Iss 1 (2022)
Resumo: A mortalidade perinatal engloba a mortalidade fetal e a neonatal precoce (0 a 6 dias). Este estudo descreveu os óbitos perinatais ocorridos no Brasil em 2018, segundo a classificação de Wigglesworth modificada. As fontes de dados foram os
Externí odkaz:
https://doaj.org/article/0287efcc049e44058051f5a93c7f36eb
Autor:
Bruna Muraro Vanassi, Gabriel Cremona Parma, Vivyane Santiago Magalhaes, Augusto César Cardoso dos Santos, Betine Pinto Moehlecke Iser
Publikováno v:
Revista Paulista de Pediatria, Vol 40 (2021)
Abstract Objective: To evaluate the distribution of cases of congenital anomalies in the state of Santa Catarina by health macro-region, to determine the frequency according to maternal and neonatal variables, to estimate the related mortality, and t
Externí odkaz:
https://doaj.org/article/d05cd8d2a8154050b048a9f46a5110a1
Autor:
Yorran Hardman Araújo Montenegro, Francyne Kubaski, Franciele Barbosa Trapp, Mariluce Riegel-Giugliani, Carolina Fischinger Moura de Souza, Erlane Marques Ribeiro, Charles Marques Lourenço, Augusto César Cardoso-dos-Santos, Márcia Gonçalves Ribeiro, Chong Ae Kim, Matheus Augusto Araújo Castro, Emília Katiane Embiruçu, Carlos Eduardo Steiner, Filippo Pinto e Vairo, Guilherme Baldo, Roberto Giugliani, Fabiano de Oliveira Poswar
Publikováno v:
Genetics and Molecular Biology, Vol 47, Iss 1 (2024)
Abstract Mucopolysaccharidosis type IIIB (MPS IIIB) is caused by deficiency of alpha-N-acetylglucosaminidase, leading to storage of heparan sulphate. The disease is characterized by intellectual disability and hyperactivity, among other neurological
Externí odkaz:
https://doaj.org/article/9b14cf2be01d4608a40766f1a42dd646
Publikováno v:
Revista Panamericana de Salud Pública, Vol 47, Iss 98, Pp 1-12 (2023)
Objective. To map geographic clusters of rare disorders and congenital anomalies reported in South America. Methods. Qualitative systematic review conducted in Medline/PubMed, Lilacs, and Scielo electronic databases to identify studies meeting eligib
Externí odkaz:
https://doaj.org/article/538ff90cde8545b99e960cd12eff3d84
Publikováno v:
Genetics and Molecular Biology, Vol 46, Iss 3 suppl 1 (2023)
Abstract Oculocutaneous albinism (OCA) is a heterogeneous group of genetic disorders involving deficiencies in melanin biosynthesis, with consequent skin, hair, and eye hypopigmentation. The world prevalence is estimated at 1/17,000, but there is hig
Externí odkaz:
https://doaj.org/article/6b01434a4b8f451aa3b46303584d8ccc
Autor:
Luiz Carlos Santana-da-Silva, Carolina Fischinger Moura de Souza, Franciele Barbosa Trapp, Diana Rojas Málaga, Augusto César Cardoso-dos-Santos, Juliana Alves Josahkian, Daniel Almeida do Valle, Dafne Dain Gandelman Horovitz, Sandra Leistner-Segal, Chong Ae Kim, Ana Cecília Menezes de Siqueira, Mara Lúcia Schmitz Ferreira Santos, Diego Santana Chaves Geraldo Miguel, Marcial Francis Galera, Roberto Giugliani, Liane de Rosso Giuliani, Raquel Tavares Boy da Silva, Kristiane Michelin-Tirelli, Maira Graeff Burin, Paula Frassinetti Vasconcelos de Medeiros, Erlane Marques Ribeiro, Alice Brinckmann Oliveira Netto, Ana Carolina Brusius-Facchin
Publikováno v:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 187:349-356
Mucopolysaccharidosis type II (MPS II) is an X-linked inherited disease caused by pathogenic variants in the IDS gene, leading to deficiency of the lysosomal enzyme iduronate-2-sulfatase and consequent widespread storage of glycosaminoglycans, leadin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c572b875bff9047b5ff18b34a94dc38
https://doi.org/10.1002/ajmg.c.31915
https://doi.org/10.1002/ajmg.c.31915
Publikováno v:
Genética na Escola. 15:2-9
Mutação é um termo amplamente utilizado pela genética para designar tanto alterações no material genético quanto nos processos que lhe deram origem. Todavia, a ideia de “seres mutantes” vem sendo amplamente explorada na cultura em geral, t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a75755168fc489a2a0b5b1477a5a3371
https://doi.org/10.55838/1980-3540.ge.2020.335
https://doi.org/10.55838/1980-3540.ge.2020.335
Autor:
Virginia Ramallo, Victor Hugo Valiati, Isabella Lopes Monlleó, Lavinia Schuler-Faccini, José Edgardo Dipierri, Mauricio Roberto Veronez, Augusto César Cardoso-dos-Santos, Marcelo Zagonel-Oliveira, Pablo E. Navarro
Publikováno v:
Journal of Biosocial Science. 53:183-198
Several studies have shown that the Brazilian Northeast is a region with high rates of inbreeding as well as a high incidence of autosomal recessive diseases. The elaboration of public health policies focused on the epidemiological surveillance of co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31dc218f21f26f783f4f763b045974e0
https://doi.org/10.1017/s0021932020000127
https://doi.org/10.1017/s0021932020000127
Autor:
Fabiano de Oliveira Poswar, Jonas Alex Morales Saute, Thayne Woycinck Kowalski, Aida Bertoli-Avella, Augusto César Cardoso-dos-Santos, Lavinia Schuler-Faccini, Thiago Oliveira Silva, Anderson Silveira Faccini
Publikováno v:
Molecular Syndromology. 11:24-29
Xia-Gibbs syndrome (XGS) is a rare neurological disorder characterized by global developmental delay, hypotonia, intellectual disability, seizures, and sleep apnea. XGS is defined by monoallelic pathogenic variants in AHDC1. In this study, we identif
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::51422ebdc8a0c35bc75a5b4c336a3b32
https://doi.org/10.1159/000505843
https://doi.org/10.1159/000505843
Autor:
Julia do Amaral Gomes, João Matheus Bremm, Augusto César Cardoso-dos-Santos, Valdelaine Etelvina Miranda de Araújo, Giovanny Vinícius Araújo de França, Ruanna Sandrelly de Miranda Alves, Ronaldo Fernandes Santos Alves, Ana Cláudia Medeiros-de-Souza
Publikováno v:
Epidemiologia e Serviços de Saúde, Vol 30, Iss 4 (2021)
Resumo Objetivo: Identificar registros de anomalias congênitas com cobertura nacional existentes no mundo, destacando suas principais características históricas e operacionais. Métodos: Revisão documental, mediante busca na base Medline/Pubmed e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e93a2875c56bc86bb5d3511d4d4fc70
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2237-96222021000400702&tlng=en
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2237-96222021000400702&tlng=en