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Brazilian guidelines for the diagnosis and treatment of cystic fibrosis

Athanazio,Rodrigo Abensur; Silva Filho,Luiz Vicente Ribeiro Ferreira da; Vergara,Alberto Andrade; Ribeiro,Antônio Fernando; Riedi,Carlos Antônio

ABSTRACT Cystic fibrosis (CF) is an autosomal recessive genetic disorder characterized by dysfunction of the CFTR gene. It is a multisystem disease that most often affects White individuals. In recent decades, various advances in the diagnosis and treatment of CF have drastically changed the scenario, resulting in a significant increase in survival and quality of life. In Brazil, the current neonatal screening ...

Date: 2017   |   Origin: Oasisbr

Association between clinical variables related to asthma in schoolchildren born...

Gonçalves,Emília da Silva; Mezzacappa-Filho,Francisco; Severino,Silvana Dalge; Ribeiro,Maria Ângela Gonçalves de Oliveira

Abstract Objective: To assess the prevalence, spirometry findings and risk factors for asthma in schoolchildren who were very low birth weight infants with and without bronchopulmonary dysplasia. Methods: Observational and cross-sectional study. The parents and/or tutors answered the International Study of Asthma and Allergies in Childhood questionnaire. The schoolchildren were submitted to the skin prick test ...

Date: 2016   |   Origin: Oasisbr

Association of growth and nutritional parameters with pulmonary function in cys...

Mauch,Renan Marrichi; Kmit,Arthur Henrique Pezzo; Marson,Fernando Augusto de Lima; Levy,Carlos Emilio; Barros-Filho,Antonio de Azevedo

Abstract Objective: To review the literature addressing the relationship of growth and nutritional parameters with pulmonary function in pediatric patients with cystic fibrosis. Data source: A collection of articles published in the last 15 years in English, Portuguese and Spanish was made by research in electronic databases - PubMed, Cochrane, Medline, Lilacs and Scielo - using the keywords cystic fibrosis, gr...

Date: 2016   |   Origin: Oasisbr

Factors impacting the growth and nutritional status of cystic fibrosis patients...

Hortencio,Taís Daiene Russo; Nogueira,Roberto José Negrão; Marson,Fernando Augusto de Lima; Hessel,Gabriel; Ribeiro,José Dirceu

OBJECTIVE: The aim of this study was to evaluate by clinical and laboratory parameters how cystic fibrosis (CF) affects growth and nutritional status of children who were undergoing CF treatment but did not receive newborn screening. METHODS: A historical cohort study of 52 CF patients younger than 10 years of age were followed in a reference center in Campinas, Southeast Brazil. Anthropometric measurements wer...

Date: 2015   |   Origin: Oasisbr

Sistema a vácuo na circulação extracorpórea: vantagens e desvantagens

Carvalho Filho,Élio Barreto de; Marson,Fernando Augusto de Lima; Costa,Loredana Nilkenes Gomes da; Antunes,Nilson

Revisão sistemática sobre drenagem assistida a vácuo na circulação extracorpórea, demonstrando seus benefícios, desvantagens, por relatos de casos e evidências sobre seus efeitos na microcirculação. Realizou-se pesquisa sistemática, no período de 1997-2012, nas bases de dados do PubMed-Medline, Lilacs e SciELO. Termos: "circulação extracorpórea", "vácuo", "drenagem", "cirurgia cardíaca" e suas correspondentes t...

Date: 2014   |   Origin: Oasisbr

Epidemiological aspects of and risk factors for wheezing in the first year of life

Fogaça,Hamilton Rosendo; Marson,Fernando Augusto de Lima; Toro,Adyléia Aparecida Dalbo Contrera; Solé,Dirceu; Ribeiro,José Dirceu

OBJECTIVE: To determine, in a sample of infants, the prevalence of and risk factors for occasional wheezing (OW) and recurrent wheezing-wheezy baby syndrome (WBS). METHODS: Parents of infants (12-15 months of age) completed the International Study of Wheezing in Infants questionnaire. RESULTS: We included 1,269 infants residing in the city of Blumenau, Brazil. Of those, 715 (56.34%) had a history of wheezing, w...

Date: 2014   |   Origin: Oasisbr

Screening for F508del as a first step in the molecular diagnosis of cystic fibr...

Marson,Fernando Augusto de Lima; Bertuzzo,Carmen Silvia; Ribeiro,Maria Angela Goncalves de Oliveira; Ribeiro,Antonio Fernando; Ribeiro,Jose Dirceu

OBJECTIVE: To determine the relevance of screening for the F508del mutation of the cystic fibrosis transmembrane conductance regulator gene as a first step in the genetic diagnosis of cystic fibrosis (CF) by associating the genotype with various clinical variables. METHODS: We evaluated 180 CF patients regarding the F508del mutation. The clinical data were obtained from the medical records of the patients and f...

Date: 2013   |   Origin: Oasisbr

Cystic fibrosis transmembrane conductance regulator mutations at a referral cen...

Coutinho,Cyntia Arivabeni de Araujo Correia; Marson,Fernando Augusto de Lima; Ribeiro,Antonio Fernando; Ribeiro,Jose Dirceu; Bertuzzo,Carmen Silvia

OBJECTIVE: To determine the frequency of six mutations (F508del, G542X, G551D, R553X, R1162X, and N1303K) in patients with cystic fibrosis (CF) diagnosed, at a referral center, on the basis of abnormal results in two determinations of sweat sodium and chloride concentrations. METHODS: This was a cross-sectional study involving 70 patients with CF. The mean age of the patients was 12.38 ± 9.00 years, 51.43% were...

Date: 2013   |   Origin: Oasisbr

Prevalência da mutação ΔF508 no gene cystic fibrosis transmembrane conductance ...

Bieger,Andréia Marisa; Marson,Fernando Augusto de Lima; Bertuzzo,Carmen Sílvia

OBJETIVO: Verificar a presença da mutação ΔF508 no gene cystic fibrosis transmembrane conductance regulator na população de pacientes com fibrose cística, diagnosticados pelo teste de sódio e cloro no suor, em acompanhamento no Ambulatório de Pneumologia Pediátrica da Universidade Estadual de Campinas, centro de referência no tratamento da fibrose cística. MÉTODOS: Foram analisadas 167 amostras de DNA de pacien...

Date: 2012   |   Origin: Oasisbr

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