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| Registros recuperados: 28 | |
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| Polizzi,Angela; Tesse,Riccardina; Santostasi,Teresa; Diana,Anna; Manca,Antonio; Logrillo,Vito Paolo; Cazzato,Maria Domenica; Pantaleo,Maria Giuseppa; Armenio,Lucio. |
| Cystic fibrosis (CF) is caused by CFTR (cystic fibrosis transmembrane conductance regulator) gene mutations. We ascertained five patients with a novel complex CFTR allele, with two mutations, H939R and H949L, inherited in cis in the same exon of CFTR gene, and one different mutation per patient inherited in trans in a wide population of 289 Caucasian CF subjects from South Italy. The genotype-phenotype relationship in patients bearing this complex allele was investigated. The two associated mutations were related to classical severe CF phenotypes. |
| Tipo: Info:eu-repo/semantics/other |
Palavras-chave: CFTR; Complex allele; Cystic fibrosis; Phenotype. |
| Ano: 2011 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572011000300008 |
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| Michels,Marcus; Matte,Ursula; Fraga,Lucas Rosa; Mancuso,Aline Castello Branco; Ligabue-Braun,Rodrigo; Berneira,Elias Figueroa Rodrigues; Siebert,Marina; Sanseverino,Maria Teresa Vieira. |
| Abstract Pathogenic variants in the Cystic Fibrosis Transmembrane Conductance Regulator gene (CFTR) are responsible for cystic fibrosis (CF), the commonest monogenic autosomal recessive disease, and CFTR-related disorders in infants and youth. Diagnosis of such diseases relies on clinical, functional, and molecular studies. To date, over 2,000 variants have been described on CFTR (~40% missense). Since few of them have confirmed pathogenicity, in silico analysis could help molecular diagnosis and genetic counseling. Here, the pathogenicity of 779 CFTR missense variants was predicted by consensus predictor PredictSNP and compared to annotations on CFTR2 and ClinVar. Sensitivity and specificity analysis was divided into modeling and validation phases using... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: CFTR; Missense variant; Prediction; Bioinformatics; Cystic fibrosis. |
| Ano: 2019 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000400560 |
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| STERPONE,SILVIA; CORNETTA,TOMMASO; ANGIONI,ADRIANO; FISCARELLI,ERSILIA; LUCIDI,VINCENZINA; TESTA,ANTONELLA; COZZI,RENATA. |
| Cystic Fibrosis (CF) is an autosomal recessive multisystemic disorder showing a highly heterogeneous phenotype, even among siblings carrying identical CFTR mutations. Moreover, oxidative stress is of central importance in the pathogenesis of cystic fibrosis. The present study seeks to value the presence of oxidative damage in CF patients and the possible modifier effect of repair and glutathione-S-transferase genes. We analysed the presence of DNA damage in leukocytes of 63 CF patients at an Italian CF centre and 63 controls, through the alkaline Comet assay to detect DNA strand breaks. Furthermore, controls and 93 CF subjects were genotyped for 5 genes by RFLP-PCR (XRCC1,0GG1,GSTP1) and PCR assay (GSTM1, GSTT1). No difference in Comet assay values was... |
| Tipo: Journal article |
Palavras-chave: Comet assay; Cystic fibrosis; DNA damage; Genetic polymorphisms; Modifier genes. |
| Ano: 2009 |
URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602009000400009 |
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| REPETTO,GABRIELA M; PUGA,ALONSO R; DELGADO,IRIS. |
| Cystic fibrosis (CF) is caused by mutations in the CFTR gene. More than 1600 mutations have been described, with frequencies that differ worldwide according to the ethnic origin of patients. A small group of mutations are recurrent on several populations. It has been shown that they each tend occur on specific chromosome 7 haplotypes, supporting the notion of a single origin for them. Less than 50% of mutations in Chilean patients have been identified to date. To indirectly assess the possible presence of a predominant founder mutation in the remaining unknown alíeles, we evaluated 2 polymorphic markers, XV-2c and KM.19, tightly linked to the CFTR locus. The study was done in Chilean CF patients with unknown or delt F508 ( F508) CFTR mutations and their... |
| Tipo: Journal article |
Palavras-chave: CFTR gene; Cystic fibrosis; F508; Haplotype analys. |
| Ano: 2007 |
URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602007000200013 |
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| Paixão,Vilma Almeida; Barros,Tânia Fraga; Mota,Clélia Maria C; Moreira,Tamy Fagundes; Santana,Maria Angélica; Reis,Joice Neves. |
| 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 prospectively collected from July to December 2006. Microbiological cultures and antimicrobial susceptibility tests of the most frequently isolated bacteria were performed. Sputum and oropharyngeal swabs were processed for culture. During the study period, 50% of the patients harbored Staphylococcus aureus, 35% Pseudomonas aeruginosa, 4.7% Haemophilus influenzae. Methicillin resistant S. aureus (MRSA) were detected in 8 (6%) patients; ESBL and MBL-producing P. aeruginosa were not identified in these patients. The... |
| Tipo: Info:eu-repo/semantics/other |
Palavras-chave: Cystic fibrosis; Antimicrobial resistance; Pseudomonas aeruginosa; Staphylococcus aureus. |
| Ano: 2010 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1413-86702010000400016 |
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| Santana,Maria Angélica; Matos,Eliana; Fontoura,Maria do Socorro; Franco,Rosana; Barreto,Danyella; Lemos,Antônio Carlos M.. |
| INTRODUCTION: Recurrent respiratory infections account for most of the morbidity and mortality of cystic fibrosis patients. MATERIALS AND METHODS: The objective was to determine the prevalence of pathogens isolated from lower respiratory tract secretions in cystic fibrosis patients. In this descriptive observational study, data from 69 patients was collected from medical records. RESULTS: The microorganisms that were identified included 36.2% P. aeruginosa, 28.9% S. Aureus, 4.3% K. pneumoniae, 1.5% H. influenzae, 1.5% E. coli, 1.5% S. maltoophilia, and in 27.5% the flora was normal. The prevalence of P. aeruginosa was 83% in patients under two years of age, demonstrating early colonization. CONCLUSION: P. aeruginosa and S. aureus were the most prevalent... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Cystic fibrosis; Pathogens; Bahia; Brazil. |
| Ano: 2003 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1413-86702003000100008 |
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| Tunes,Alessandro; Reis,Joice Neves; Terse,Regina; Santana,Maria Angélica; Diniz,Ana Lúcia; Barros,Tânia Fraga; Leal,Ana Karina Souza; Paixão,Vilma; Grassi,Maria Fernanda Rios. |
| Lower airway infection is a major cause of morbidity and mortality in patients with cystic fibrosis. It is currently unknown if the infection of the upper airway can cause exacerbation of lower respiratory tract infection. This study aimed to determine the microbiological profile of the anterior paranasal sinuses outflow tract (middle meatus) of cystic fibrosis outpatients. The microbiological profile was defined using endoscopically directed middle meatal cultures. Paired middle meatal and sputum specimens were collected from 56 outpatients for aerobic cultures. A semi-quantitative leukocyte count of the middle meatal samples was performed. The median age of patients was nine years (3-20 years). Staphylococcus aureus (37%),... |
| Tipo: Info:eu-repo/semantics/other |
Palavras-chave: Cystic fibrosis; Middle meatus; Infection; Endoscopy. |
| Ano: 2014 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1413-86702014000200215 |
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| Khanbabaee,Ghamartaj; Akbarizadeh,Majidreza; Sayyari,Aliakbar; Ashayeri-Panah,Mitra; Abdollahgorji,Fatemeh; Sheibani,Kourosh; Rezaeig,Nima. |
| OBJECTIVE:This study was performed to investigate frequency and antimicrobial susceptibility of pulmonary pathogens in cystic fibrosis (CF) patients. METHODS: 129 pediatric patients with CF were enrolled in this cross-sectional study. Microbiological cultures were performed based on sputum or pharyngeal swabs. Antibiotic susceptibilities of the isolated bacteria were determined by the disk diffusion method. RESULTS: The main infecting pathogens were Pseudomonas aeruginosa (38.8%), Klebsiella pneumoniae (11.6%) and Staphyloccus areus (9.3%), respectively. The most active antibiotics included rifampin (91.7% susceptibility), vancomycin (85%) and imipenem (83.5%). Emerging resistance against aminoglycosides was observed. CONCLUSION: Regarding in vitro... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Cystic fibrosis; Respiratory tract; Infections; Products with antimicrobial action. |
| Ano: 2012 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1413-86702012000200003 |
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| Firmida,M.C.; Pereira,R.H.V.; Silva,E.A.S.R.; Marques,E.A.; Lopes,A.J.. |
| The rate of diagnosis of colonization/infection of the airways with Achromobacter xylosoxidans has increased in cystic fibrosis patients, but its clinical significance is still controversial. This retrospective, case-control study aimed to evaluate the clinical impact of A. xylosoxidans colonization/infection in cystic fibrosis patients. Individuals who were chronically colonized/infected (n=10), intermittently colonized/infected (n=15), and never colonized/infected with A. xylosoxidans (n=18) were retrospectively evaluated during two periods that were 2 years apart. Demographic characteristics, clinical data, lung function, and chronic bacterial co-colonization data were evaluated. Of the total study population, 87% were pediatric patients and 65.1% were... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Cystic fibrosis; Achromobacter spp.; Achromobacter xylosoxidans; Microbiology. |
| Ano: 2016 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2016000400703 |
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| Ziegler,B.; Fernandes,A.K.; Sanches,P.R.S.; Junior,D.P. Silva; Thomé,P.R.O.; Dalcin,P.T.R.. |
| We evaluated dyspnea perception in cystic fibrosis patients compared with normal subjects, during an inspiratory resistive loading test and 6-min walk test. We also evaluated the correlation between dyspnea scores induced by resistive loads and by the 6-min walk test. In this prospective, cross-sectional study, 31 patients with cystic fibrosis (≥15 years of age) and 31 age-, gender-, and ethnicity-matched healthy volunteers (20 females and 11 males per group) underwent inspiratory resistive loading, spirometry, and the 6-min walk test. As the magnitude of the inspiratory loads increased, dyspnea scores increased (P<0.001), but there was no difference between groups in dyspnea score (P=0.654). Twenty-six (84%) normal subjects completed all the resistive... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Cystic fibrosis; Dyspnea perception; Pulmonary function test; Six-min walk test; Inspiratory resistive load testing. |
| Ano: 2013 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2013001000897 |
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| Rodrigues,R.; Magalhaes,P.K.R.; Fernandes,M.I.M.; Gabetta,C.S.; Ribeiro,A.F.; Pedro,K.P.; Valdetaro,F.; Santos,J.L.F.; Souza,R.M. de; Pazin Filho,A.; Maciel,L.M.Z.. |
| Cystic fibrosis is one of the most common autosomal recessive hereditary diseases in the Caucasian population, with an incidence of 1:2000 to 1:3500 liveborns. More than 1000 mutations have been described with the most common being F508del. It has a prevalence of 23-55% within the Brazilian population. The lack of population-based studies evaluating the incidence of cystic fibrosis in São Paulo State, Brazil, and an analysis concerning the costs of implantation of a screening program motivated the present study. A total of 60,000 dried blood samples from Guthrie cards obtained from April 2005 to January 2006 for neonatal screening at 4 reference centers in São Paulo State were analyzed. The immunoreactive trypsinogen (IRT)/IRT protocol was used with the... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Cystic fibrosis; Neonatal screening; Immunoreactive trypsinogen test; Brazil. |
| Ano: 2009 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2009001000017 |
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| Perone,C.; Medeiros,G.S.; del Castillo,D.M.; de Aguiar,M.J.B.; Januário,J.N.. |
| The nature and frequency of cystic fibrosis mutations in Brazil is not uniform due to the highly varied ethnic composition of the population. The average frequency of the F508del mutation has been reported to be 48.6%. Other common mutations in Brazil are G542X, R1162X, and N1303K. The aim of this study was to analyze the frequency of 8 mutations (F508del, G542X, R1162X, N1303K, W1282X, G85E, 3120+1G>A, and 711+1G>T) in a sample of 111 newborn patients with cystic fibrosis diagnosed by the Cystic Fibrosis Neonatal Screening Program of Minas Gerais State. The mutations were tested by allele-specific oligonucleotide PCR with specially designed primers. An allele frequency of 48.2% was observed for the F508del mutation, and allele frequencies of 5.41,... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: CFTR gene; Cystic fibrosis; Mutations; Neonatal screening; F508del. |
| Ano: 2010 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2010000200003 |
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| Araújo,F.G. de; Novaes,F.C.; Santos,N.P.C. dos; Martins,V.C.; Souza,S.M. de; Santos,S.E.B. dos; Ribeiro-dos-Santos,A.K.C.. |
| Cystic fibrosis (CF) is the most common genetic disease among Caucasians and is rare among sub-Saharan Africans. The Brazilian population is not ethnically homogeneous but it is the result of three-way ethnic admixture of Europeans, Africans and Amerindians in varying proportions, depending on the region. In the present study, we investigated 33 patients who had been diagnosed and are currently under treatment for CF at the University Hospital João de Barros Barreto, Belém, Pará State. The molecular analysis for G542X, G551D and R553X mutations was performed by PCR followed by RFLP using BstNI, HincII and MboI, respectively, in polyacrylamide gel eletrophoresis and stained with AgNO3. ThedeltaF508 mutation (a deletion of 3 bp) was only analyzed by... |
| Tipo: Info:eu-repo/semantics/other |
Palavras-chave: Cystic fibrosis; Gene mutations; Amazon region; Belém; DeltaF508 gene; G551D gene. |
| Ano: 2005 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2005000100003 |
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| Morales,M.M.; Capella,M.A.M.; Lopes,A.G.. |
| Cystic fibrosis (CF) is a lethal autosomal recessive genetic disease caused by mutations in the CF transmembrane conductance regulator (CFTR). Mutations in the CFTR gene may result in a defective processing of its protein and alter the function and regulation of this channel. Mutations are associated with different symptoms, including pancreatic insufficiency, bile duct obstruction, infertility in males, high sweat Cl-, intestinal obstruction, nasal polyp formation, chronic sinusitis, mucus dehydration, and chronic Pseudomonas aeruginosa and Staphylococcus aureus lung infection, responsible for 90% of the mortality of CF patients. The gene responsible for the cellular defect in CF was cloned in 1989 and its protein product CFTR is activated by an increase... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: CFTR; Cystic fibrosis; Chloride channel; Function; Structure; Mutations. |
| Ano: 1999 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X1999000800013 |
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| Registros recuperados: 28 | |
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