Zobrazeno 1 - 10
of 131
pro vyhledávání: '"Xavier Acosta, A."'
Autor:
Patricia de Abreu Farias Carvalho, Taiane Sousa Regis, Adriana Virgínia Barros Faiçal, Renata Maria Rabello da Silva Lago, Regina Terse-Ramos, Angelina Xavier Acosta
Publikováno v:
Jornal de Pediatria, Vol 99, Iss 1, Pp 94-98 (2023)
Objective: To evaluate the functional status of individuals with Osteogenesis Imperfecta (OI) followed up at a reference center in the state of Bahia. Materials and methods: This is an observational, cross-sectional, descriptive study, which evaluate
Externí odkaz:
https://doaj.org/article/71dc363fa8494564b2697f34238f0f5e
Autor:
Patricia de Abreu Farias Carvalho, Taiane Sousa Regis, Adriana Virgínia Barros Faiçal, Regina Terse-Ramos, Angelina Xavier Acosta
Publikováno v:
Revista Paulista de Pediatria, Vol 41 (2023)
Abstract Objective: This study aims to evaluate the respiratory function of children and adolescents with osteogenesis imperfecta (OI) followed up at a referral center. Methods: A cross-sectional study was conducted with a non-probabilistic sample. M
Externí odkaz:
https://doaj.org/article/cf91a0b7b334483ebbed508501dac568
Autor:
Cibele Gomes Bicalho, Emília Katiane Embiruçu de Araújo Leão, Álvaro Muiños de Andrade, Angelina Xavier Acosta
Publikováno v:
International Archives of Otorhinolaryngology, Vol 25, Iss 03, Pp e386-e391 (2021)
Introduction Mucopolysaccharidosis (MPS) is a set of rare diseases caused by deficiency of lysosomal enzymes that lead to the accumulation of glycosaminoglycans (GAG) in tissues and organs, which, in turn, is responsible for the multisystemic clinica
Externí odkaz:
https://doaj.org/article/57b0b93c60c9468a80c8d425832f685d
Autor:
Qeren Hapuk R. Ferreira Fernandes, Enny S. Paixão, Maria da Conceição N. Costa, Maria Glória Teixeira, Juliana Darbra Cruz Rios, Keila da Silva Goes Di Santo, Mauricio L. Barreto, Angelina Xavier Acosta
Publikováno v:
Ciência & Saúde Coletiva. 28:969-979
Congenital anomalies (CA) are a relevant problem for global public health, affecting about 3% to 6% of newborns worldwide. In Brazil, these are the second main cause of infant mortality. Thus, extensive studies are needed to demonstrate the impact of
Autor:
Qeren Hapuk R. Ferreira Fernandes, Enny S. Paixão, Maria da Conceição N. Costa, Maria Glória Teixeira, Juliana Darbra Cruz Rios, Keila da Silva Goes Di Santo, Mauricio L. Barreto, Angelina Xavier Acosta
Publikováno v:
Ciência & Saúde Coletiva, Volume: 28, Issue: 4, Pages: 969-979, Published: 07 APR 2023
Resumo As anomalias congênitas (AC) configuram um relevante problema para a saúde pública global, afetando em média de 3% a 6% dos recém-nascidos em todo o mundo. No Brasil, ocupam a segunda posição entre os principais grupos de causas de óbi
Autor:
Cleyton Soares dos Santos, Renata Giannecchini Bongiovanni Kishi, Daniel Lima Gomes da Costa, Danniel Sann Dias da Silva, Tânia Regina Franco Narciso, Lucimar Retto da Silva de Avó, Carla Maria Ramos Germano, Kiyoko Abe Sandes, Angelina Xavier Acosta, Débora Gusmão Melo
Publikováno v:
Revista Brasileira de Medicina de Família e Comunidade, Vol 15, Iss 42 (2020)
Problema: Embora individualmente raras, somadas, as doenças genéticas têm prevalência global estimada de 31,5 a 73,0 por 1.000 indivíduos. Além disto, doenças genéticas e defeitos congênitos representam a segunda causa de mortalidade infanti
Externí odkaz:
https://doaj.org/article/6c338704fefc4e3db7461674bcf1e2aa
Autor:
Joanna Goes Castro Meira, Manoel Alfredo Curvelo Sarno, Ágatha Cristhina Oliveira Faria, Guilherme Lopes Yamamoto, Débora Romeo Bertola, Gabriela Gayer Scheibler, Dione Fernandes Tavares, Angelina Xavier Acosta
Publikováno v:
Revista Brasileira de Ginecologia e Obstetrícia, Vol 40, Iss 9, Pp 570-575 (2018)
Abstract Atelosteogenesis type I (AOI) is an autosomal dominant skeletal dysplasia caused by mutations in the filamin B (FLNB) gene with classic and well-recognizable clinical findings. However, parents affected with a mild phenotype, probably with s
Externí odkaz:
https://doaj.org/article/fb7cd6eb064d4cb3b9930ada56225ccb
Autor:
Roberto Giugliani, Fernanda Bender, Rowena Couto, Aline Bochernitsan, Ana Carolina Brusius-Facchin, Maira Burin, Tatiana Amorim, Angelina Xavier Acosta, Antônio Purificação, Sandra Leistner-Segal, Maria Luiza Saraiva-Pereira, Laura Bannach Jardim, Ursula Matte, Mariluce Riegel, Augusto César Cardoso-dos-Santos, Graziella Rodrigues, Marcelo Zagonel de Oliveira, Alice Tagliani-Ribeiro, Selia Heck, Vanusa Dresch, Lavínia Schuler-Faccini, Francyne Kubaski
Publikováno v:
Genetics and Molecular Biology, Iss 0 (2019)
Abstract Rare genetic disorders are currently in the spotlight due to the elevated number of different conditions and significant total number of affected patients. The study of these disorders is extremely helpful for the elucidation of physiologica
Externí odkaz:
https://doaj.org/article/3b9cfc2431bf4168914bb31ecb58b269
Autor:
Eduardo Manoel Figueiredo, Juan Ignacio Calcagno, Cristina Salles, Isadora Cristina de Siqueira, Juliana Menezes Gomes Cabral de Oliveira, Angelina Xavier Acosta, Marcia W. Carneiro, Breno Lima de Almeida, Rosana Pellegrini, Marta Giovanetti, Iluska Andrade Agra, Emília Katiane Embiruçu de Araújo Leão, João Vitor Oliveira, Adriana Virgínia Barros Faiçal, Rita Lucena, Tereza Cristina Xavier Carvalho, Luiz Carlos Junior Alcantara
Publikováno v:
International Journal of Infectious Diseases, Vol 114, Iss, Pp 128-131 (2022)
Fourteen asymptomatic normocephalic newborns with confirmed congenital Zika infection were investigated. All newborns presented Zika virus (ZIKV) positivity on reverse transcriptase polymerase chain reaction. Following ZIKV-specific NS5 gene fragment
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 5, Iss C, Pp 19-25 (2015)
Clinical and biochemical improvements are reported on Mucopolysaccharidosis type VI (MPS VI) patients on Enzyme Replacement Therapy (ERT) with rhASB (galsulfase, Naglazyme®), and preclinical and clinical studies have shown clinical benefits of early
Externí odkaz:
https://doaj.org/article/7d28379920734275af89e56d54842b54