Bell SC, Mall MA, Gutierrez H, Macek M, Madge S, Davies JC, et al. The future of cystic fibrosis care: a global perspective. Lancet Respir Med. 2020;8:65–124.
CAS PubMed Article Google Scholar
Shamsuddin AKM, Quinton PM. Concurrent absorption and secretion of airway surface liquids and bicarbonate secretion in human bronchioles. Am J Physiol Lung Cell Mol Physiol. 2019;316:L953–60.
CAS PubMed PubMed Central Article Google Scholar
Bardin E, Pastor A, Semeraro M, Golec A, Hayes K, Chevalier B, et al. Modulators of CFTR. Updates on clinical development and future directions. Eur J Med Chem. 2021;213:113195.
CAS PubMed Article Google Scholar
Terlizzi V, Tosco A, Tomaiuolo R, Sepe A, Amato N, Casale A, et al. Prediction of acute pancreatitis risk based on PIP score in children with cystic fibrosis. J Cyst Fibros. 2014;13:579–84.
CAS PubMed Article Google Scholar
Terlizzi V, Lucarelli M, Salvatore D, Angioni A, Bisogno A, Braggion C, et al. Clinical expression of cystic fibrosis in a large cohort of Italian siblings. BMC Pulm Med. 2018;18:196.
CAS PubMed PubMed Central Article Google Scholar
Marson FAL. Disease-modifying genetic factors in cystic fibrosis. CurrOpinPulm Med. 2018;24:296–308.
Sofia VM, Surace C, Terlizzi V, Da Sacco L, Alghisi F, Angiolillo A, et al. Trans-heterozygosity for mutations enhances the risk of recurrent/chronic pancreatitis in patients with Cystic Fibrosis. MolMed. 2018;24:38.
Terlizzi V, De Gregorio F, Sepe A, Amato N, Arduino C, Casale A, et al. Brand new SPINK1 and CFTR mutations in a child with acute recurrent pancreatitis: a case report. Minerva Pediatr. 2013;65:669–72.
Barben J, Castellani C, Dankert-Roelse J, Gartner S, Kashirskaya N, Linnane B, et al. The expansion and performance of national newborn screening programmes for cystic fibrosis in Europe. J Cyst Fibros. 2017;16:207–13.
Taccetti G, Botti M, Terlizzi V, Cavicchi MC, Neri AS, Galici V, et al. Clinical and genotypical features of false-negative patients in 26 years of Cystic Fibrosis neonatal screening in Tuscany, Italy. Diagnostics (Basel). 2020;10:446.
Castellani C, Massie J, Sontag M, Southern KW. Newborn screening for cystic fibrosis. Lancet Respir Med. 2016;4:653–61.
Super M. Cystic fibrosis newborn screening and detection of carriers. Arch Dis Child Fetal Neonatal Ed. 2003;88:F448–9.
CAS PubMed PubMed Central Article Google Scholar
Ren CL, Borowitz DS, Gonska T, Howenstine MS, Levy H, Massie J, et al. Cystic fibrosis transmembrane conductance regulator-related metabolic syndrome and Cystic Fibrosis screen positive, inconclusive diagnosis. J Pediatr. 2017;181S:S45–511.
Barben J, Castellani C, Munck A, Davies JC, de Winter-de Groot KM, Gartner S, et al. Updated guidance on the management of children with cystic fibrosis transmembrane conductance regulator related metabolic syndrome/cystic fibrosis screen positive, inconclusive diagnosis (CRMS/CFSPID). J Cyst Fibros. 2020;S1569–1993(20):30909–17.
Terlizzi V, Claut L, Tosco A, Colombo C, Raia V, Fabrizzi B, et al. A survey of the prevalence, management and outcome of infants with an inconclusive diagnosis following newborn bloodspot screening for cystic fibrosis (CRMS/CFSPID) in six Italian centres. J Cyst Fibros. 2021;20:828–34.
CAS PubMed Article Google Scholar
LeGrys VA, Yankaskas JR, Quittell LM, Marshall BC, Mogayzel PJ Jr, Cystic Fibrosis Foundation. Diagnostic sweat testing: the Cystic Fibrosis Foundation guidelines. J Pediatr. 2007;151:85–9.
Farrell PM, White TB, Ren CL, Hempstead SE, Accurso F, Derichs N, et al. Diagnosis of Cystic Fibrosis: consensus guidelines from the Cystic Fibrosis Foundation. J Pediatr. 2017;181S:S4-S15.e1.
Bombieri C, Claustres M, De Boeck K, Derichs N, Dodge J, Girodon E, et al. Recommendations for the classification of diseases as CFTR-related disorders. J Cyst Fibros. 2011;10(Suppl 2):S86-102.
CAS PubMed Article Google Scholar
Middleton PG, Mall MA, Dřevínek P, Lands LC, McKone EF, Polineni D, et al. Elexacaftor-Tezacaftor-Ivacaftor for Cystic Fibrosis with a single Phe508del Allele. N Engl J Med. 2019;381:1809–19.
CAS PubMed PubMed Central Article Google Scholar
Carnovale V, Iacotucci P, Terlizzi V, Colangelo C, Medio P, Ferrillo L, et al. Effectiveness and safety of elexacaftor/tezacaftor/ivacaftor in patients with cystic fibrosis and advanced lung disease with the Phe508del/minimal function genotype. Respir Med. 2021;189:106646.
Cabral B, Terlizzi V, Laselva O, Conte Filho C, Mota F. Anticipating new treatments for Cystic Fibrosis: a global survey of researchers. J Clin Med. 2022;11:1283.
CAS PubMed PubMed Central Article Google Scholar
Guerra L, Favia M, Di Gioia S, Laselva O, Bisogno A, Casavola V, et al. The preclinical discovery and development of the combination of ivacaftor + tezacaftor used to treat cystic fibrosis. Expert Opin Drug Discov. 2020;15:873–91.
CAS PubMed Article Google Scholar
Suri R. The use of human deoxyribonuclease (rhDNAse) in the management of cystic fibrosis. BioDrugs. 2005;19:135–44.
CAS PubMed Article Google Scholar
Robinson TE, Goris ML, Zhu HJ, Chen X, Bhise P, Sheikh F, Moss RB. Dornase alfa reduces air trapping in children with mild cystic fibrosis lung disease: a quantitative analysis. Chest. 2005;128:2327–35.
CAS PubMed Article Google Scholar
Yang C, Montgomery M. Dornase alfa for cystic fibrosis. Cochrane Database Syst Rev. 2018;9:CD001127.
Lieberman J. Dornase aerosol effect on sputum viscosity in cases of cystic fibrosis. JAMA. 1968;205:312–3.
CAS PubMed Article Google Scholar
Castellani C, Duff AJA, Bell SC, Heijerman HGM, Munck A, Ratjen F, et al. ECFS best practice guidelines: the 2018 revision. J Cyst Fibros. 2018;17:153–78.
Mogayzel PJ Jr, Naureckas ET, Robinson KA, Mueller G, Hadjiliadis D, Hoag JB, et al. Cystic fibrosis pulmonary guidelines. Chronic medications for maintenance of lung health. Am J Respir Crit Care Med. 2013;187:680–9.
Cystic Fibrosis Foundation Patient Registry Annual Data Report 2020. https://www.cff.org/sites/default/files/2021-11/Patient-Registry-Annual-Data-Report.pdf.
European Cystic Fibrosis Society Patient Registry Annual Data Report 2019. https://www.ecfs.eu/sites/default/files/general-content-images/working-groups/ecfs-patient-registry/ECFSPR_Report_2019_v1_23Dec2021.pdf.
Fuchs HJ, Borowitz DS, Christiansen DH, Morris EM, Nash ML, Ramsey BW, et al. Effect of aerosolized recombinant human DNase on exacerbations of respiratory symptoms and on pulmonary function in patients with cystic fibrosis. The Pulmozyme Study Group. N Engl J Med. 1994;331:637–42.
CAS PubMed Article Google Scholar
Suri R, Metcalfe C, Lees B, Grieve R, Flather M, Normand C, et al. Comparison ofhypertonic saline and alternate-day or daily recombinant human deoxyribonucleasein children with cystic fibrosis: a randomised trial. Lancet. 2001;358:1316–21.
CAS PubMed Article Google Scholar
Dentice R, Elkins M. Timing of dornase alfa inhalation for cystic fibrosis. Cochrane Database Syst Rev. 2021;3:CD007923.
McCoy K, Hamilton S, Johnson C. Effects of 12-week administration of dornase alfa in patients with advanced cystic fibrosis lung disease Pulmozyme Study Group. Chest. 1996;110:889–95.
CAS PubMed Article Google Scholar
Frederiksen B, Pressler T, Hansen A, Koch C, Høiby N. Effect of aerosolized rhDNase (Pulmozyme) on pulmonary colonization in patients with cystic fibrosis. Acta Paediatr. 2006;95:1070–4.
Quan JM, Tiddens HA, Sy JP, McKenzie SG, Montgomery MD, Robinson PJ, et al. A two-year randomized, placebo-controlled trial of dornase alfa in young patients with cystic fibrosis with mild lung function abnormalities. J Pediatr. 2001;139:813–20.
CAS PubMed Article Google Scholar
Paul K, Rietschel E, Ballmann M, Griese M, Worlitzsch D, Shute J, et al. Bronchoalveolar lavage for the evaluation of antiinflammatory treatment study group. Effect of treatment with dornase alpha on airway inflammation in patients with cystic fibrosis. Am J Respir Crit Care Med. 2004;169:719–25.
Newsome SJ, Daniel RM, Carr SB, Bilton D, Keogh RH. Investigating the effects of long-term dornase alfa use on lung function using registry data. J Cyst Fibros. 2019;18:110–7.
CAS PubMed Article Google Scholar
Minasian C, Wallis C, Metcalfe C, Bush A. Comparison of inhaled mannitol, dailyrhDNase and a combination of both in children with cystic fibrosis: a randomised trial. Thorax. 2010;65:51–6.
CAS PubMed Article Google Scholar
AdemhanTural D, Yalçın E, Emiralioglu N, Ozsezen B, Sunman B, NayirBuyuksahin H, et al. Comparison of inhaled mannitol/dornase alfa combination and daily dornase alfa alone in children with cystic fibrosis. Pediatr Pulmonol. 2022;57:142–51.
Terlizzi V, Masi E, Francalanci M, Taccetti G, Innocenti D. Hypertonic saline in people with cystic fibrosis: review of comparative studies and clinical practice. Ital J Pediatr. 2021;47:168.
PubMed PubMed Central Article Google Scholar
Mainz JG, Schien C, Schiller I, Schädlich K, Koitschev A, Koitschev C, et al. Sinonasal inhalation of dornase alfa administered by vibrating aerosol to cystic fibrosis patients: a double-blind placebo-controlled cross-over trial. J Cyst
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