SOS Fibrosi Cistica
Area: MEDICA
- Persistence of Viable But Non-Culturable Stenotrophomonas maltophilia in a Cystic Fibrosis Patient. Gianmarco Mangiaterra, Valentina Schiavoni , Nicholas Cedraro, Barbara Citterio , Carla Vignaroli , Rosaria Gesuita , Benedetta Fabrizzi , Francesca Biavasco , Natalia Cirilli . Pediatr Pulmonol. 2025 Sep;60(9):e71300. doi: 10.1002/ppul.71300.
- Elexacaftor/Tezacaftor/Ivacaftor Efficacy in a Cohort of Italian Patients with CFTR Rare Mutations. by Francesca Lucca, Sonia Volpi,Mirco Ros, Benedetta Fabrizzi,Ilaria Meneghelli ,Marica Bordicchia et al. Int. J. Transl. Med. 2025, 5(1), 11;https://doi.org/10.3390/ijtm5010011
- Beyond Kaftrio : mechanistic insights to maximize N1303K-CFTR rescue. Iwona Pranke, Valeria Capurro, Benoit Chevalier, Emanuela Pesce, Valeria Tomati, Cristina Pastorino, Aurelie Hatton, Saik Urien, Mariateresa Lena, Elise Dréano, Renata Bocciardi, Federico Zara, Stefano Pantano, Vito Terlizzi, Cristina Lucanto, Stefano Costa, Laura Claut, Valeria Daccò, Piercarlo Poli, Massimo Maschio, Benedetta Fabrizzi, Nicole Caporelli et al. BioRxiv The preprint server for biology. Posted March 03, 2024. doi: https://doi.org/10.1101/2024.02.29.582514
- Theratyping cystic fibrosis in vitro in ALI culture and organoid models generated from patient-derived nasal epithelial conditionally reprogrammed stem cells. Sette G, Lo Cicero S, Blaconà G, Pierandrei S, Bruno SM, Salvati V, Castelli G, Falchi M, Fabrizzi B, Cimino G, De Maria R, Biffoni M, Eramo A, Lucarelli M. Eur Respir J. 2021 Dec 2;58(6):2100908. doi: 10.1183/13993003.00908-2021.
- Nonsense Suppression Therapy: New Hypothesis for the Treatment of Inherited Bone Marrow Failure Syndromes. Bezzerri V, Api M, Allegri M, Fabrizzi B, Corey SJ, Cipolli M.Int J Mol Sci. 2020 Jun 30;21(13):4672. doi: 10.3390/ijms21134672.
- Role of bronchoscopy in critically ill patients managed in intermediate care units - indications and complications: A narrative review. Menditto VG, Mei F, Fabrizzi B, Bonifazi M.World J Crit Care Med. 2021 Nov 9;10(6):334-344. doi: 10.5492/wjccm.v10.i6.334.
- Clinical outcome of individuals carrying 5T;TG12 in trans with CFTR variants with varying clinical consequences. Tosco A, Carnovale V, Claut L, Fabrizzi B, Majo F, Castellani C, Sepe A, Castaldo G, Terlizzi V.Pediatr Pulmonol. 2023 Apr;58(4):1253-1255. doi: 10.1002/ppul.26323.
- Clinical outcomes of a large cohort of individuals with the F508del/5T;TG12 CFTR genotype. Antonella Tosco, Alice Castaldo, Carla Colombo,Laura Claut,Vincenzo Carnovale, Paola Iacotucci, Marco Lucarelli, Giuseppe Cimino, Benedetta Fabrizzi, Nicole Caporelli et al. Journal of Cystic Fibrosis, 2022 May 4;S1569-1993(22)00109-6
- Peripheral blood immunophenotyping in a large cohort of patients with Shwachman-Diamond syndrome. Bezzerri V, Vella A, Gennaro GD, Ortolani R, Nicolis E, Cesaro S, Fabrizzi B, Bronte V, Corey SJ, Cipolli M.Pediatr Blood Cancer. 2019 May;66(5):e27597. doi: 10.1002/pbc.27597.
- Clinical outcomes of a large cohort of individuals with the F508del/5T;TG12 CFTR genotype. Tosco A, Castaldo A, Colombo C, Claut L, Carnovale V, Iacotucci P, Lucarelli M, Cimino G, Fabrizzi B, Caporelli N, Majo F, Ciciriello F, Padoan R, Poli P, Taccetti G, Centrone C, Casciaro R, Castellani C, Salvatore D, Colangelo C, Bonomi P, Castaldo G, Terlizzi V.J Cyst Fibros. 2022 Sep;21(5):850-855. doi: 10.1016/j.jcf.2022.04.020.
- The impact of elexacaftor/tezacaftor/ivacaftor therapy on the pulmonary management of adults with cystic fibrosis: An expert-based Delphi consensus. Gramegna A, Aliberti S, Calderazzo MA, Casciaro R, Ceruti C, Cimino G, Fabrizzi B, Lucanto C, Messore B, Pisi G, Taccetti G, Tarsia P, Blasi F, Cipolli M.Respir Med. 2023 Nov 3;220:107455. doi: 10.1016/j.rmed.2023.107455.
- A Multicentre Italian Study on the Psychological Impact of an Inconclusive Cystic Fibrosis Diagnosis after Positive Neonatal Screening. Tosco A, Marino D, Polizzi S, Tradati V, Padoan R, Giust C, Fabrizzi B, Taccetti G, Merli L, Terlizzi V.Children (Basel). 2023 Jan 18;10(2):177. doi: 10.3390/children10020177.
- Two novel and correlated CF-causing insertions in the (TG)mTn tract of the CFTR gene. Pierandrei S, Blaconà G, Fabrizzi B, Cimino G, Cirilli N, Caporelli N, Angeloni A, Cipolli M, Lucarelli M.PLoS One. 2019 Oct 8;14(10):e0222838. doi: 10.1371/journal.pone.0222838.
- Different management approaches and outcome for infants with an inconclusive diagnosis following newborn screening for cystic fibrosis (CRMS/CFSPID) and Pseudomonas aeruginosa isolation. Dolce D, Claut L, Colombo C, Tosco A, Castaldo A, Padoan R, Timpano S, Fabrizzi B, Bonomi P, Taccetti G, Terlizzi V.J Cyst Fibros. 2023 Jan;22(1):73-78. doi: 10.1016/j.jcf.2022.07.007.
- CRMS/CFSPID Subjects Carrying D1152H CFTR Variant: Can the Second Variant Be a Predictor of Disease Development? Terlizzi V, Padoan R, Claut L, Colombo C, Fabrizzi B, Lucarelli M, Bruno SM, Castaldo A, Bonomi P, Taccetti G, Tosco A.Diagnostics (Basel). 2020 Dec 12;10(12):1080. doi: 10.3390/diagnostics10121080.
- Role of Bronchial Artery Embolization as Early Treatment Option in Stable Cystic Fibrosis Patients with Sub-Massive Hemoptysis: Personal Experience and Literature Review. Floridi C, Boscarato P, Ventura C, Bruno A, Rossini N, Baldassari M, Lanza C, Fabrizzi B, Candelari R, Giovagnoni A.J Clin Med. 2022 Oct 30;11(21):6432. doi: 10.3390/jcm11216432.
- Outcomes of early repeat sweat testing in infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome/CF screen-positive, inconclusive diagnosis. Terlizzi V, Claut L, Colombo C, Tosco A, Castaldo A, Fabrizzi B, Lucarelli M, Cimino G, Carducci C, Dolce D, Biffi A, Bonomi P, Timpano S, Padoan R.Pediatr Pulmonol. 2021 Dec;
- mTOR and STAT3 Pathway Hyper-Activation is Associated with Elevated Interleukin-6 Levels in Patients with Shwachman-Diamond Syndrome: Further Evidence of Lymphoid Lineage Impairment. Vella A, D'Aversa E, Api M, Breveglieri G, Allegri M, Giacomazzi A, Marinelli Busilacchi E, Fabrizzi B, Cestari T, Sorio C, Bedini G, D'Amico G, Bronte V, Poloni A, Benedetti A, Bovo C, Corey SJ, Borgatti M, Cipolli M, Bezzerri V.Cancers (Basel). 2020 Mar 5;12(3):597. doi: 10.3390/cancers12030597.
- 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. Terlizzi V, Claut L, Tosco A, Colombo C, Raia V, Fabrizzi B, Lucarelli M, Angeloni A, Cimino G, Castaldo A, Marsiglio L, Timpano S, Cirilli N, Moroni L, Festini F, Piccinini P, Zavataro L, Bonomi P, Taccetti G, Southern KW, Padoan R.J Cyst Fibros. 2021 Sep;20(5):828-834. doi: 10.1016/j.jcf.2021.03.015.
- Ataluren improves myelopoiesis and neutrophil chemotaxis by restoring ribosome biogenesis and reducing p53 levels in Shwachman-Diamond syndrome cells. Cipolli M,Boni C, Penzo M, Villa I, Bolamperti S, Baldisseri E, Frattini A, Porta G, Api M, Selicato N, Roccia P, Pollutri D, Marinelli Busilacchi E, Poloni A, Caporelli N, D'Amico G, Pegoraro A, Cesaro S, Oyarbide U, Vella A, Lippi G, Corey SJ, Valli R, Polini A, V Bezzerri V. Br J Haematol. 2023 Oct 24. doi: 10.1111/bjh.19134.