Extensive CFTR sequencing through NGS in Brazilian individuals with cystic fibrosis: unravelling regional discrepancies in the country

Autor: Luiz Vicente Ribeiro Ferreira da Silva Filho, Paulo José Cauduro Maróstica, Rodrigo Abensur Athanazio, Francisco José Caldeira Reis, Neiva Damaceno, Angela Tavares Paes, Adilson Yuuji Hira, David Schlesinger, Fernando Kok, Margarida D. Amaral, Mara Lícia Machado Antunes, Lilian Cristina Ferreira Andries, Virginia Auxiliadora Freitas de Castro, Fabíola Villac Adde, Maria Fernanda Botelho Hernandez Perez, Vera Maria Dantas, Luciana de Freitas Velloso Monte, Adriana Goya, Samia Rached, Lusmaia Damaceno Camargo Costa, Lorenna Junqueira Almeida Prado, Elizabet Vilar Guimarães, Ana Cristina de Carvalho Fernandez Fonseca, Marina Pires Nishi, Carlos Antônio Riedi, Nelson Augusto Rosario Filho, Mariane Gonçalves Martynychen Canan, Maria Inez Machado Fernandes, Albin Eugenio Augustin, Rosângela Villela Garcia, Maria Margarete da Silva Zembrzuski, Kátia Izabel de Oliveira, Anneliese Hoffmann, Cláudio Ricachinevsky, Paulo de Tarso Roth Dalcin, Bruna Ziegler, Daniela de Souza Paiva Borgli, Daniele Menezes Torres Ferrao, Elizabeth Passos Simoes da Silva, Maria Angelica Santana, Maria Amenaide Carvalho Alves de Sousa, Claudia de Castro e Silva, Evalto Monte de Araujo Filho, Tiago Neves Veras, Noberto Ludwig Neto, Luiz Roberto Agea Cutolo, Alberto Andrade Vergara, Suzana Fonseca Oliveira Melo, Maria do Espírito Santo Almeida Moreira, Roberta de Cássia Nunes Cruz Melotti, Fernanda Barbosa dos Santos Malini, Marcelo Bicalho de Fuccio, Bruno Porto Pessoa, Concetta Esposito, Paulo Cesar Kussek, Glaunir Maria Foletto, Leonardo Araujo Pinto, Matias Epifanio, Marcelo Tadday Rodrigues, Marta Cristina Duarte, Daniela Gois Meneses, Valéria de Carvalho Martins, Sônia Elenita Lopes Valente, Arlan de Azevedo Ferreira, Constantino Giovanni Braga Cartaxo, Denise Maria Costa Haidar, Mônica de Cássia Firmida, Marcos César Santos de Castro, Edna Lucia Santos de Souza, Lais Ribeiro Mota, Katharina Vidal de Negreiros Moura, Joaquim Carlos Rodrigues, Cleyde Myriam Aversa Nakaie, Tânia Wrobel Folescu, Izabela Sad, Murilo Carlos Amorim de Britto, Carlos Henrique Medeiros Castelletti, Cláudia Mello Gonçalves, Lucia Muramatu, Gilberto Bueno Fischer, Giesela Fleischer Ferrari, Luciana Oliveira Silvano Tostes, Carmen Silvia Bertuzzo, Fernando Augusto de Lima Marson, Sonia Mayumi Chiba, Marcela Duarte De Sillos

Publikováno v: Journal of Cystic Fibrosis

Background The Brazilian population has a tri-hybrid composition with a high degree of ethnic admixture. We hypothesized that Brazilian individuals with CF from different Brazilian regions have a specific distribution of CFTR variants. Methods Indivi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf9702131a0c0b3d3a03a6f7fcb7a6de
https://doi.org/10.1016/j.jcf.2020.08.007

Characterization of a murine model of endothelial dysfunction induced by chronic intraperitoneal administration of angiotensin II

Autor: Celeste Trejo-Moreno, Enrique Jiménez-Ferrer, Gabriela Castro-Martínez, Marisol Méndez-Martínez, María Angélica Santana, Gerardo Arrellín-Rosas, José Pedraza-Chaverri, Omar Noel Medina-Campos, Beatriz Hernández-Téllez, Oscar Ramírez-Pliego, Maribel Herrera-Ruiz, Jacquelynne Cervantes-Torres, Zimri Aziel Alvarado-Ojeda, Alejandro Costet-Mejía, Gladis Fragoso, Gabriela Rosas-Salgado

Publikováno v: Scientific Reports, Vol 11, Iss 1, Pp 1-12 (2021)

Abstract Endothelial dysfunction (ED) is a key factor for the development of cardiovascular diseases. Due to its chronic, life-threatening nature, ED only can be studied experimentally in animal models. Therefore, this work was aimed to characterize

Externí odkaz: https://doaj.org/article/e6326c0a39e647c29f9409f02daf383e

Contribution of ROS and metabolic status to neonatal and adult CD8+ T cell activation.

Autor: José Antonio Sánchez-Villanueva, Otoniel Rodríguez-Jorge, Oscar Ramírez-Pliego, Gabriela Rosas Salgado, Wassim Abou-Jaoudé, Céline Hernandez, Aurélien Naldi, Denis Thieffry, María Angélica Santana

Publikováno v: PLoS ONE, Vol 14, Iss 12, p e0226388 (2019)

In neonatal T cells, a low response to infection contributes to a high incidence of morbidity and mortality of neonates. Here we have evaluated the impact of the cytoplasmic and mitochondrial levels of Reactive Oxygen Species of adult and neonatal CD

Externí odkaz: https://doaj.org/article/1dc8df30e3e543f6a8b40c61e5f17a6f

A first-year dornase alfa treatment impact on clinical parameters of patients with cystic fibrosis: the Brazilian cystic fibrosis multicenter study

Autor: Tatiana Rozov, Fernando Antônio A. e Silva, Maria Angélica Santana, Fabíola Villac Adde, Rita Heloisa Mendes

Publikováno v: Revista Paulista de Pediatria, Vol 31, Iss 4, Pp 420-430 (2013)

OBJECTIVE: To describe the clinical impact of the first year treatment with dornase alfa, according to age groups, in a cohort of Brazilian Cystic Fibrosis (CF) patients. METHODS: The data on 152 eligible patients, from 16 CF reference centers, that

Externí odkaz: https://doaj.org/article/2a07e1365fc649d7a40548ee45bf283c

Prevalence and antimicrobial susceptibility of respiratory pathogens in patients with cystic fibrosis

Autor: Vilma Almeida Paixão, Tânia Fraga Barros, Clélia Maria C. Mota, Tamy Fagundes Moreira, Maria Angélica Santana, Joice Neves Reis

Publikováno v: Brazilian Journal of Infectious Diseases, Vol 14, Iss 4, Pp 406-409 (2010)

Respiratory infection is very common in patients suffering from cystic fibrosis (CF). However, the antimicrobial resistance rate of isolates from CF patients is not often documented. In this study, 279 respiratory specimens of 146 “patients” were

Externí odkaz: https://doaj.org/article/02ffcc446b3e4a64a825042c262587f5