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Identification of prevalent mutations and clinical and functional characterization of children and adults with primary ciliary dyskinesia

Grant number: 15/12858-5
Support type:Scholarships in Brazil - Post-Doctorate
Effective date (Start): January 01, 2016
Effective date (End): December 31, 2018
Field of knowledge:Health Sciences - Medicine - Maternal and Child Health
Principal Investigator:Jose Dirceu Ribeiro
Grantee:Fernando Augusto de Lima Marson
Home Institution: Faculdade de Ciências Médicas (FCM). Universidade Estadual de Campinas (UNICAMP). Campinas , SP, Brazil

Abstract

The aim of this study will be to identify and assess the frequency of the prevalent mutations and the clinical, radiological and functional state of the disease, as well as assessing the quality of life of patients with primary ciliary dyskinesia (PCD). Adults and children with clinical features of: i) chronic cough, bronchiectasis disease or severe upper airway / persistent (otitis/chronic rhinosinusitis of unknown cause; ii) situs inversus totalis, or any heterotaxy syndrome; iii) infants with neonatal respiratory distress without apparent cause, iv) cerebral ventriculomegaly, in the absence of obvious cause; v) siblings of patients with DCP; vi) impaired motility of the sperm flagellum and vii) and recurrent women ectopic pregnancy will be included in the study. All patients with suspect of DCP will be submitted to clinical, radiological and functional assessment including: high resolution computed tomography scan of the chest, measurement of exaleted nasal nitric oxide, spirometry, observation of ciliary beating by video microscopy observation of structural changes of the eyelashes by eletronic microscopy. Patients with high suspicion of DCP by combining 1) clinical history, X-ray and low values of nasal nitric oxide; or 2) patients with structural changes in eyelashes in electronic microscopy or 3) consistent and reproducible abnormalities of ciliary beat. The patients will undergo genetic analysis to identify key mutations of genes previously associated with DCP. Those with DCP confirmed respond to the questionnaire of quality of life developed by the consortium BestCilia.

Scientific publications (39)
(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)
COUTINHO, C. A. A. C.; MARSON, F. A. L.; RIBEIRO, J. D.; BERTUZZO, C. S. A negative screening of rare genetic variants in the ADIPOQ and STATH genes in cystic fibrosis. PULMONOLOGY, v. 26, n. 3, p. 138-144, MAY-JUN 2020. Web of Science Citations: 0.
PEIXOTO, ANDRESSA O.; AL MARSON, FERNANDO; DERTKIGIL, SERGIO SJ; DERTKIGIL, RAQUEL P.; SOUZA, TIAGO H.; FRAGA, ANDREA; RIBEIRO, ANTONIO F.; TORO, ADYLEIA ADC; RIBEIRO, JOSE D. The Use of Ultrasound as a Tool to Evaluate Pulmonary Disease in Cystic Fibrosis. Respiratory Care, v. 65, n. 3, p. 293-303, MAR 1 2020. Web of Science Citations: 0.
ZAGO, VANESSA H. S.; PARRA, ELIANE S.; VIRGINIO, VITOR W. M.; VENDRAME, FELIPE; GOMES, ERICA I. L.; SCHERRER, DANIEL Z.; MARSON, FERNANDO A. L.; DE FARIA, ELIANA C. Lipase C, Hepatic Type-250A/G (rs2070895) Variant Enhances Carotid Atherosclerosis in Normolipidemic and Asymptomatic Individuals from Brazil. LIPIDS, v. 55, n. 3 MAR 2020. Web of Science Citations: 0.
ARMANDO ALMEIDA-JUNIOR; FERNANDO AUGUSTO LIMA MARSON; CELIZE CRUZ BRESCIANI ALMEIDA; MARIA ÂNGELA GONÇALVES OLIVEIRA RIBEIRO; ILMA APARECIDA PASCHOAL; MARCOS MELLO MOREIRA; JOSÉ DIRCEU RIBEIRO. Volumetric capnography versus spirometry for the evaluation of pulmonary function in cystic fibrosis and allergic asthma. Jornal de Pediatria, v. 96, n. 2, p. 255-264, Abr. 2020. Web of Science Citations: 0.
SOUZA GOMEZ, CARLA CRISTINA; FRANCISCO PARAZZI, PALOMA LOPES; CLINCKSPOOR, KARL JAN; MAUCH, RENAN MARRICHI; TEIXEIRA PESSINE, FRANCISCO BENEDITO; LEVY, CARLOS EMILIO; PEIXOTO, ANDRESSA OLIVEIRA; GONCALVES OLIVEIRA RIBEIRO, MARIA ANGELA; RIBEIRO, ANTONIO FERNANDO; CONRAD, DOUGLAS; QUINTON, PAUL MARQUIS; LIMA MARSON, FERNANDO AUGUSTO; RIBEIRO, JOSE DIRCEU. Safety, Tolerability, and Effects of Sodium Bicarbonate Inhalation in Cystic Fibrosis. CLINICAL DRUG INVESTIGATION, NOV 2019. Web of Science Citations: 0.
KOWAL OLM, MARY ANNE; LIMA MARSON, FERNANDO AUGUSTO; ATHANAZIO, RODRIGO ABENSUR; NAKAGAWA, NAOMI KONDO; MACCHIONE, MARIANGELA; LOGES, NIKI TOMAS; OMRAN, HEYMUT; RACHED, SAMIA ZAHI; BERTUZZO, CARMEN SILVIA; STELMACH, RAFAEL; NASCIMENTO SALDIVA, PAULO HILARIO; RIBEIRO, JOSE DIRCEU; JONES, MARCUS HERBERT; MAUAD, THAIS. Severe pulmonary disease in an adult primary ciliary dyskinesia population in Brazil. SCIENTIFIC REPORTS, v. 9, JUN 18 2019. Web of Science Citations: 0.
KMIT, ARTHUR; LIMA MARSON, FERNANDO AUGUSTO; PEREIRA, STEPHANIE VILLA-NOVA; VINAGRE, ADRIANA MENDES; LEITE, GABRIELA SILVA; SERVIDONI, MARIA FATIMA; RIBEIRO, JOSE DIRCEU; RIBEIRO, ANTONIO FERNANDO; BERTUZZO, CARMEN SILVIA; AMARAL, MARGARIDA DUARTE. Extent of rescue of F508de1-CFTR function by VX-809 and VX-770 in human nasal epithelial cells correlates with SNP rs7512462 in SLC26A9 gene in F508del/F508del Cystic Fibrosis patients. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, v. 1865, n. 6, p. 1323-1331, JUN 1 2019. Web of Science Citations: 1.
LUIZ, LIVIA COCATO; LIMA MARSON, FERNANDO AUGUSTO; BRESCIANI ALMEIDA, CELIZE CRUZ; DALBO CONTRERA TORO, ADYLEIA APARECIDA; NUCCI, ANAMARLI; RIBEIRO, JOSE DIRCEU. Analysis of motor and respiratory function in Duchenne muscular dystrophy patients. Respiratory Physiology & Neurobiology, v. 262, p. 1-11, APR 2019. Web of Science Citations: 1.
BRIGATTO SIMOES GOLUCCI, ANA PAULA; LIMA MARSON, FERNANDO AUGUSTO; FEDATO VALENTE, MARIANA FREITAS; BRANCO, MAIRA MIGLIARI; PRADO, CAMILA CARBONE; NEGRAO NOGUEIRA, ROBERTO JOSE. Influence of AIDS antiretroviral therapy on the growth pattern. Jornal de Pediatria, v. 95, n. 1, p. 7-17, JAN-FEB 2019. Web of Science Citations: 4.
PARAZZI, P. L. F.; MARSON, F. A. L.; RIBEIRO, M. A. G. O.; SCHIVINSKI, C. I. S.; RIBEIRO, J. D. Correlation between parameters of volumetric capnography and spirometry during a submaximal exercise protocol on a treadmill in patients with cystic fibrosis and healthy controls. PULMONOLOGY, v. 25, n. 1, p. 21-31, JAN-FEB 2019. Web of Science Citations: 0.
PARAZZI, PALOMA L. F.; MARSON, FERNANDO A. L.; RIBEIRO, MARIA A. G. O.; SCHIVINSKI, CAMILA I. S.; RIBEIRO, JOSE D. Evaluation of respiratory dynamics by volumetric capnography during submaximal exercise protocol o six minutes on treadmill in cystic fibrosis patients. Jornal de Pediatria, v. 95, n. 1, p. 76-86, JAN-FEB 2019. Web of Science Citations: 0.
PALOMA L.F. PARAZZI; FERNANDO A.L. MARSON; MARIA A.G.O. RIBEIRO; CAMILA I.S. SCHIVINSKI; JOSÉ D. RIBEIRO. Evaluation of respiratory dynamics by volumetric capnography during submaximal exercise protocol of six minutes on treadmill in cystic fibrosis patients. Jornal de Pediatria, v. 95, n. 1, p. 76-86, Fev. 2019.
ANA PAULA BRIGATTO SIMÕES GOLUCCI; FERNANDO AUGUSTO LIMA MARSON; MARIANA FREITAS FEDATO VALENTE; MAIRA MIGLIARI BRANCO; CAMILA CARBONE PRADO; ROBERTO JOSÉ NEGRÃO NOGUEIRA. Influence of AIDS antiretroviral therapy on the growth pattern,. Jornal de Pediatria, v. 95, n. 1, p. 7-17, Fev. 2019.
ALINE CRISTINA GONÇALVES; FERNANDO AUGUSTO LIMA MARSON; REGINA MARIA HOLANDA MENDONÇA; CARMEN SÍLVIA BERTUZZO; ILMA APARECIDA PASCHOAL; JOSÉ DIRCEU RIBEIRO; ANTÔNIO FERNANDO RIBEIRO; CARLOS EMÍLIO LEVY. Chloride and sodium ion concentrations in saliva and sweat as a method to diagnose cystic fibrosis. Jornal de Pediatria, v. 95, n. 4, p. 443-450, Ago. 2019. Web of Science Citations: 1.
ANDRESSA OLIVEIRA PEIXOTO; FERNANDO AUGUSTO LIMA MARSON; TIAGO HENRIQUE SOUZA; ANDREA DE MELO ALEXANDRE FRAGA; JOSÉ DIRCEU RIBEIRO. Lung ultrasound assessment of response to antibiotic therapy in cystic fibrosis exacerbations: a study of two cases. Jornal Brasileiro de Pneumologia, v. 45, n. 6, p. -, 2019. Web of Science Citations: 0.
BRIGATTO SIMOES GOLUCCI, ANA PAULA; LIMA MARSON, FERNANDO AUGUSTO; RIBEIRO, ANTONIO FERNANDO; NEGRAO NOGUEIRA, ROBERTO JOSE. Lipid profile associated with the systemic inflammatory response syndrome and sepsis in critically ill patients. NUTRITION, v. 55-56, p. 7-14, NOV-DEC 2018. Web of Science Citations: 2.
SOUZA GOMEZ, CARLA CRISTINA; LIMA MARSON, FERNANDO AUGUSTO; SERVIDONI, MARIA FATIMA; RIBEIRO, ANTONIO FERNANDO; GONCALVES OLIVEIRA RIBEIRO, MARIA ANGELA; LOPES GAMA, VERUSKA ACIOLI; COSTA, EDUARDO TAVARES; RIBEIRO, JOSE DIRCEU; VIEIRA JUNIOR, FRANCISCO UBALDO. Evaluation of continuous constant current and continuous pulsed current in sweat induction for cystic fibrosis diagnosis. BMC PULMONARY MEDICINE, v. 18, SEP 14 2018. Web of Science Citations: 0.
CAMARGO BARROS ROCHA, D. A.; MARSON, F. A. L.; ALMEIDA, C. C. B.; ALMEIDA JUNIOR, A. A.; RIBEIRO, J. D. Association between oxygenation and ventilation indices with the time on invasive mechanical ventilation in infants. PULMONOLOGY, v. 24, n. 4, p. 241-249, JUL-AUG 2018. Web of Science Citations: 0.
PEREIRA, STEPHANIE V. N.; RIBEIRO, JOSE D.; BERTUZZO, CARMEN S.; MARSON, FERNANDO A. L. Interaction among variants in the SLC gene family (SLC6A14, SLC26A9, SLC11A1, and SLC9A3) and CFTR mutations with clinical markers of cystic fibrosis. PEDIATRIC PULMONOLOGY, v. 53, n. 7, p. 888-900, JUL 2018. Web of Science Citations: 2.
MARSON, FERNANDO A. L. Disease-modifying genetic factors in cystic fibrosis. CURRENT OPINION IN PULMONARY MEDICINE, v. 24, n. 3, p. 296-308, MAY 2018. Web of Science Citations: 6.
ALVAREZ, ALFONSO EDUARDO; LIMA MARSON, FERNANDO AUGUSTO; BERTUZZO, CARMEN SILVIA; SANTIAGO BASTOS, JULIANA CRISTINA; ELIAS BARACAT, EMILIO CARLOS; BRANDAO, MARCELO BARCIELA; TRESOLDI, ANTONIA TERESINHA; DAS NEVES ROMANELI, MARIANA TRESOLDI; BRESCIANI ALMEIDA, CELIZE CRUZ; DE OLIVEIRA, THEREZINHA; SCHLODTMANN, PATRICIA GODANO; CORREA, ESTER; FERREIRA DE MIRANDA, MARIA LUISA; DOS REIS, MARCELO CONRADO; DE PIERI, JOSE VICENTE; ARNS, CLARICE WEIS; RIBEIRO, JOSE DIRCEU. Association between single nucleotide polymorphisms in TLR4, TLR2, TLR9, VDR, NOS2 and CCL5 genes with acute viral bronchiolitis. Gene, v. 645, p. 7-17, MAR 1 2018. Web of Science Citations: 5.
FURGERI, DANIELA TENORIO; LIMA MARSON, FERNANDO AUGUSTO; ARAUJO CORREIA, CYNTIA ARIVABENI; RIBEIRO, JOSE DIRCEU; BERTUZZO, CARMEN SILVIA. Cystic fibrosis transmembrane regulator haplotypes in households of patients with cystic fibrosis. Gene, v. 641, p. 137-143, JAN 30 2018. Web of Science Citations: 0.
LIMA MARSON, FERNANDO AUGUSTO; BERTUZZO, CARMEN SILVIA; DE ARAUJO, TANIA KAWASAKI; RUSSO HORTENCIO, TAIS DAIENE; RIBEIRO, ANTONIO FERNANDO; RIBEIRO, JOSE DIRCEU. Pancreatic Insufficiency in Cystic Fibrosis: Influence of Inflammatory Response Genes. PANCREAS, v. 47, n. 1, p. 99-109, JAN 2018. Web of Science Citations: 2.
WOLLMEISTER, ELINARA; ALVAREZ, ALFONSO EDUARDO; SANTIAGO BASTOS, JULIANA CRISTINA; LIMA MARSON, FERNANDO AUGUSTO; RIBEIRO, JOSE DIRCEU; ELIAS BARACAT, EMILIO CARLOS; ARNS, CLARICE WEIS; LOPES RICCETTO, ADRIANA GUT. Respiratory syncytial virus in Brazilian infants - Ten years, two cohorts. Journal of Clinical Virology, v. 98, p. 33-36, JAN 2018. Web of Science Citations: 0.
DENTINI, PRISCILA; LIMA MARSON, FERNANDO AUGUSTO; BONADIA, LUCIANA CARDOSO; BERTUZZO, CARMEN SILVIA; RIBEIRO, ANTONIO FERNANDO; LEVY, CARLOS EMILIO; RIBEIRO, JOSE DIRCEU. Burkholderia cepacia complex in cystic fibrosis in a Brazilian reference center. MEDICAL MICROBIOLOGY AND IMMUNOLOGY, v. 206, n. 6, p. 447-461, DEC 2017. Web of Science Citations: 0.
FURLAN, LARISSA LAZZARINI; RIBEIRO, JOSE DIRCEU; BERTUZZO, CARMEN SILVIA; SALOMAO JUNIOR, JOAO BATISTA; SILVA SOUZA, DOROTEIA ROSSI; LIMA MARSON, FERNANDO AUGUSTO. Variants in the interleukin 8 gene and the response to inhaled bronchodilators in cystic fibrosis. Jornal de Pediatria, v. 93, n. 6, p. 639-648, NOV-DEC 2017. Web of Science Citations: 5.
FARIA, ALETHEA GUIMARAES; LIMA MARSON, FERNANDO AUGUSTO; SOUZA GOMEZ, CARLA CRISTINA; SERVIDONI, MARIA DE FATIMA; RIBEIRO, ANTONIO FERNANDO; RIBEIRO, JOSE DIRCEU. Thirty Years of Sweat Chloride Testing at One Referral Center. FRONTIERS IN PEDIATRICS, v. 5, OCT 26 2017. Web of Science Citations: 7.
PEREIRA, STEPHANIE VILLA-NOVA; RIBEIRO, JOSE DIRCEU; BERTUZZO, CARMEN SILVIA; LIMA MARSON, FERNANDO AUGUSTO. Association of clinical severity of cystic fibrosis with variants in the SLC gene family (SLC6A14, SLC26A9, SLC11A1 and SLC9A3). Gene, v. 629, p. 117-126, SEP 20 2017. Web of Science Citations: 16.
MARQUES FERREIRA, ADRIANA CAROLINA; LIMA MARSON, FERNANDO AUGUSTO; COHEN, MILENA ANTONELLI; BERTUZZO, CARMEN SILVIA; LEVY, CARLOS EMILIO; RIBEIRO, ANTONIO FERNANDO; RIBEIRO, JOSE DIRCEU. Hypertonic Saline as a Useful Tool for Sputum Induction and Pathogen Detection in Cystic Fibrosis. Lung, v. 195, n. 4, p. 431-439, AUG 2017. Web of Science Citations: 2.
AGUIAR, K. C. A.; MARSON, F. A. L.; GOMEZ, C. C. S.; PEREIRA, M. C.; PASCHOAL, I. A.; RIBEIRO, A. F.; RIBEIRO, J. D. Physical performance, quality of life and sexual satisfaction evaluation in adults with cystic fibrosis: An: unexplored correlation. Revista Portuguesa de Pneumologia, v. 23, n. 4, p. 179-192, JUL-AUG 2017. Web of Science Citations: 1.
MARSON, FERNANDO A. L.; BERTUZZO, CARMEN S.; RIBEIRO, JOSE D. Personalized or Precision Medicine? The Example of Cystic Fibrosis. FRONTIERS IN PHARMACOLOGY, v. 8, JUN 20 2017. Web of Science Citations: 14.
REZENDE, LUCIANA MONTES; LIMA MARSON, FERNANDO AUGUSTO; PASSOS LIMA, CARMEN SILVIA; BERTUZZO, CARMEN SILVIA. Variants of estrogen receptor alpha and beta genes modify the severity of sporadic breast cancer. Gene, v. 608, p. 73-78, APR 15 2017. Web of Science Citations: 3.
MARIANA S. FERREIRA; ROBERTO T. MENDES; FERNANDO A.L. MARSON; MARIANA P. ZAMBON; MARIA A.R.G.M. ANTONIO; ILMA A. PASCHOAL; ADYLÉIA A.D.C. TORO; SILVANA D. SEVERINO; MARIA A.G.O. RIBEIRO; JOSÉ D. RIBEIRO. Spirometry and volumetric capnography in lung function assessment of obese and normal-weight individuals without asthma. Jornal de Pediatria, v. 93, n. 4, p. -, Ago. 2017.
LARISSA LAZZARINI FURLAN; JOSÉ DIRCEU RIBEIRO; CARMEN SÍLVIA BERTUZZO; JOÃO BATISTA SALOMÃO JUNIOR; DOROTÉIA ROSSI SILVA SOUZA; FERNANDO AUGUSTO LIMA MARSON. Variants in the interleukin 8 gene and the response to inhaled bronchodilators in cystic fibrosis,. Jornal de Pediatria, v. 93, n. 6, p. -, Dez. 2017.
MARIA FÁTIMA SERVIDONI; CARLA CRISTINA SOUZA GOMEZ; FERNANDO AUGUSTO LIMA MARSON; ADYLÉIA APARECIDA DALBO CONTRERA TORO; MARIA ÂNGELA GONÇALVES DE OLIVEIRA RIBEIRO; JOSÉ DIRCEU RIBEIRO; ANTÔNIO FERNANDO RIBEIRO. Sweat test and cystic fibrosis: overview of test performance at public and private centers in the state of São Paulo, Brazil. Jornal Brasileiro de Pneumologia, v. 43, n. 2, p. -, Abr. 2017.
FRANCISCO PARAZZI, PALOMA LOPES; LIMA MARSON, FERNANDO AUGUSTO; RIBEIRO, JOSE DIRCEU; GONCALVES DE OLIVEIRA RIBEIRO, MARIA ANGELA; SANTOS SCHIVINSKI, CAMILA ISABEL. Use of Phase III Slope of Volumetric Capnography in Outpatient Clinical Practice: A Descriptive Analysis. CURRENT RESPIRATORY MEDICINE REVIEWS, v. 13, n. 3, p. 152-158, 2017. Web of Science Citations: 0.
GONCALVES BONALDO, TAISA CRESPI; SOUZA GOMEZ, CARLA CRISTINA; FRANCISCO PARAZZI, PALOMA LOPES; BRESCIANI ALMEIDA, CELIZE CRUZ; LIMA MARSON, FERNANDO AUGUSTO; DE OLIVEIRA, THEREZINHA; ALVES GRANDE, ROSANGELA APARECIDA; COHEN, MILENA ANTONELLI. Use of Non-Invasive Ventilation in Children and Adolescents: Scientific Evidence. CURRENT RESPIRATORY MEDICINE REVIEWS, v. 13, n. 2, p. 82-92, 2017. Web of Science Citations: 0.
FARIA, ALETHEA GUIMARAES; LIMA MARSON, FERNANDO AUGUSTO; DE SOUZA GOMEZ, CARLA CRISTINA; GONCALVES DE OLIVEIRA RIBEIRO, MARIA ANGELA; MORAIS, LUCAS BRIOSCHI; SERVIDONI, MARIA DE FATIMA; BERTUZZO, CARMEN SILVIA; SAKANO, EULALIA; GOTO, MAURA; PASCHOAL, ILMA APARECIDA; PEREIRA, MONICA CORSO; HESSEL, GABRIEL; LEVY, CARLOS EMILIO; DALBO CONTRERA TORO, ADYLEIA APARECIDA; PEIXOTO, ANDRESSA OLIVEIRA; RIBEIRO SIMOES, MARIA CRISTINA; LOMAZI, ELIZETE APARECIDA; NEGRAO NOGUEIRA, ROBERTO JOSE; RIBEIRO, ANTONIO FERNANDO; RIBEIRO, JOSE DIRCEU. Quality of sweat test (ST) based on the proportion of sweat sodium (Na) and sweat chloride (Cl) as diagnostic parameter of cystic fibrosis: are we on the right way?. DIAGNOSTIC PATHOLOGY, v. 11, OCT 26 2016. Web of Science Citations: 3.
FURLAN, LARISSA LAZZARINI; LIMA MARSON, FERNANDO AUGUSTO; RIBEIRO, JOSE DIRCEU; BERTUZZO, CARMEN SILVIA; SALOMAO JUNIOR, JOAO BATISTA; SILVA SOUZA, DOROTEIA ROSSI. IL8 gene as modifier of cystic fibrosis: unraveling the factors which influence clinical variability. Human Genetics, v. 135, n. 8, p. 881-894, AUG 2016. Web of Science Citations: 16.

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