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281 results on '"Cipolli, M"'

4. P063 ELX/TEZ/IVA has beneficial effects on clinical outcomes and quality of life in people with cystic fibrosis in the real-world TRAJECTORY study

Author

Solé, A., primary, Ratjen, F., additional, Schwarz, C., additional, Duckers, J., additional, Azevedo, P., additional, Daccò, V., additional, Quon, B.S., additional, Imaduddin Ahmed, M., additional, Quintana, E., additional, Gamboa, F., additional, Cipolli, M., additional, McKinnon, C., additional, Heyne, M., additional, Scirica, C., additional, and Sutharsan, S., additional

Published
2024
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12. 534 COVID-19 in people with cystic fibrosis and the general population: Severity and virus-host cell interactions

Author

Colombo, C., primary, Alicandro, G., additional, Bandera, A., additional, Bouché, V., additional, Biffi, A., additional, Boraso, M., additional, Cacchiarelli, D., additional, Ciciriello, F., additional, Cipolli, M., additional, Gramegna, A., additional, Itri, T., additional, Lucidi, V., additional, Medino, P., additional, Rosazza, C., additional, and Galietta, L., additional

Published
2022
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13. 509 Cystic fibrosis transmembrane conductance regulator positively regulates angiotensin-converting enzyme 2 expression and SARS-CoV-2 viral entry into airway epithelial cells: Implications for patients with cystic fibrosis

Author

Bezzerri, V., primary, Gentili, V., additional, Boni, C., additional, Baldisseri, E., additional, Finotti, A., additional, Papi, C., additional, Tamanini, A., additional, Olioso, D., additional, Polimeni, A., additional, Leo, S., additional, Borgatti, M., additional, Volpi, S., additional, Pinton, P., additional, Cabrini, G., additional, Gambari, R., additional, Blasi, F., additional, Lippi, G., additional, Rimessi, A., additional, Rizzo, R., additional, and Cipolli, M., additional

Published
2022
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20. ePS4.07 COVID-19 early vaccination campaign in Italian cystic fibrosis (CF) patients: the experience of the Italian Society for the Study of Cystic Fibrosis (SIFC)

Author

Lucca, F., primary, Carnovale, V., additional, Casciaro, R., additional, Comello, I., additional, Daccò, V., additional, Ferrara, E., additional, Francalanci, M., additional, Gramegna, A., additional, Lucanto, M.C., additional, Maschio, M., additional, Messore, B., additional, Pisi, G., additional, Poli, P., additional, Pradal, U., additional, Rotolo, N., additional, Salvatore, D., additional, Vitullo, P., additional, and Cipolli, M., additional

Published
2022
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21. [Italian Cystic Fibrosis Registry (ICFR). Report 2019-2020]

Author

Campagna, G., Amato, A., Majo, F., Ferrari, G., Quattrucci, S., Padoan, R., Floridia, G., Salvatore, D., Carnovale, V., Puppo Fornaro, G., Angiolillo, A., Badolato, R., Battistini, F., Bernardi, M. A., Bertasi, S., Bignamin, I., Caloiero, M., Cannata, L., Carnicella, A., Castellani, C., Ciciretti, M. A., Cimino, G., Cipolli, M., Cirilli, N., Collura, M., Colombo, C., De Venuto, D., Di Sabatino, M, Donati, V., Fabrizi, B., Ficili, F., Francalanci, M., Giordano, P., Iansa, P., Laezza, C., Leonardi, S., Lucanto, M. C., Lucidi, V., Macchiaroli, A. M., Manca, A., Maschio, M., Mascotto, D., Mencarini, V., Messore, B., Moretti, P., Negri, A., Pantano, S., Palladino, N., Pintani, E., Pisano, G., Pisi, G., Pizzamiglio, G., Pradal, U., Raia, V., Redemagni, A., Ripani, P., Ros, M., Rotolo, N., Rottigni, S., Salvatore, M., Scarlata, A., Serio, L., Spaggiari, C., Taccetti, G., Taruscio, D., and Vitullo, P

Subjects
Adult, Male, CF referral centre, Adolescent, Cystic Fibrosis, [delta]F508, COVID-19, FEV, registry, BMI, Young Adult, CF support centre, Italy, cystic fibrosis, Child, Child, Preschool, Female, Humans, Pandemics, Registries, Preschool
Published
2022

22. SARS-CoV-2 infection in cystic fibrosis: A multicentre prospective study with a control group, Italy, February-July 2020

Author

Colombo, C., Alicandro, G., Dacco, V., Gagliano, V., Morlacchi, L. C., Casciaro, R., Pisi, G., Francalanci, M., Badolato, R., Bignamini, E., Messore, B., Lucanto, M. C., Leonetti, G., Maschio, M., and Cipolli, M.

Subjects
RNA viruses, Male, Viral Diseases, Pulmonology, Cystic Fibrosis, Coronaviruses, Epidemiology, Medical Conditions, Antibiotics, Prospective Studies, Pathology and laboratory medicine, Virus Testing, Antimicrobials, Drugs, Disease Management, Medical microbiology, Hospitalization, Chemistry, Infectious Diseases, Italy, Genetic Diseases, Viruses, Physical Sciences, Female, SARS CoV 2, Pathogens, Research Article, Chemical Elements, Adult, SARS coronavirus, Microbiology, Respiratory Disorders, Young Adult, Autosomal Recessive Diseases, Diagnostic Medicine, Microbial Control, Humans, Pandemics, Medicine and health sciences, Clinical Genetics, Pharmacology, Biology and life sciences, SARS-CoV-2, Organisms, Viral pathogens, COVID-19, Covid 19, Fibrosis, Microbial pathogens, Oxygen, Respiratory Infections, Developmental Biology
Abstract

Objective To describe the symptoms and clinical course of SARS-CoV-2 infection in patients with cystic fibrosis (CF). Methods We carried out a prospective multicentre cohort study based on 32 CF centres and 6597 patients. Centres were contacted to collect baseline and follow-up data of patients who reported symptoms suggestive of COVID-19 or who had contact with a positive/suspected case between the end of February and July 2020. Symptoms and clinical course of the infection were compared between patients who tested positive by molecular testing (cases) and those who tested negative (controls). Results Thirty patients were reported from the centres, 16 of them tested positive and 14 tested negative. No differences in symptoms and outcome of the disease were observed between groups. Fever, cough, asthenia and dyspnea were the most frequently reported symptoms. Eight cases (50%) were hospitalized but none required ICU admission. Two adults with a history of lung transplant required non-invasive ventilation, none required ICU admission and all patients fully recovered without short-term sequelae. Conclusions The course of SARS-CoV-2 in our patients was relatively favorable. However, COVID-19 should not be considered a mild disease in CF patients, particularly for those with severely impaired respiratory function and organ transplant.

Published
2021

23. Italian cystic fibrosis registry (ICFR): Report 2017-2018

Author

Campagna, G., Amato, A., Majo, F., Ferrari, G., Quattrucci, S., Padoan, R., Floridia, G., Salvatore, D., Carnovale, V., Fornaro, G. P., Taruscio, D., Salvatore, M., Angiolillo, A., Baldo, E., Battistini, F., Bernardi, M. A., Bertasi, S., Bignamini, E., Bisogno, A., Braggion, C., Caloiero, M., Cannata, L., Carnicella, A., Cellini, C., Ciciretti, M. A., Cimino, G., Cipolli, M., Cirilli, N., Collura, M., Colombo, C., Sabatino, M. D., Donati, V., Fabrizi, B., Ficili, F., Francalanci, M., Iansa, P., Laezza, C., Leonardi, S., Lucanto, M. C., Lucidi, V., Macchiaroli, A. M., Manca, A., Maschio, M., Mascotto, D., Mencarini, V., Messore, B., Minicucci, L., Moretti, P., Negri, A., Pantano, S., Palladino, N., Pintani, E., Pisano, G., Pisi, G., Pizzamiglio, G., Quattromano, E., Raia, V., Redemagni, A., Ros, M., Rotolo, N., Rottigni, S., Scarlata, A., Spaggiari, C., Taccetti, G., Vassanelli, C., and Vitullo, P.

Subjects
Adult, Male, CF referral centre, Registry, Adolescent, Cystic Fibrosis, [delta]F508, Cystic Fibrosis Transmembrane Conductance Regulator, FEV, BMI, Young Adult, CF support centre, Italy, Cystic fibrosis, Child, Female, Humans, Registries, Lung Transplantation
Published
2021

26. Amikacin liposome inhalation suspension for chronic Pseudomonas aeruginosa infection in cystic fibrosis

Author

Bilton D, Pressler T, Fajac I, Clancy JP, Sands D, Minic P, Cipolli M, Galeva I, Solé A, Quittner AL, Liu K, McGinnis JP, Eagle G, Gupta R, Konstan MW, and CLEAR-108 Study Group

Subjects
ALIS, Amikacin liposome inhalation suspension, CFQ-R, Cystic fibrosis, LAI, Liposomal amikacin for inhalation, Pseudomonas aeruginosa, respiratory tract diseases
Abstract

Shortcomings of inhaled antibiotic treatments for Pseudomonas aeruginosa infection in patients with cystic fibrosis (CF) include poor drug penetration, inactivation by sputum, poor efficiency due to protective biofilm, and short residence in the lung.

Published
2020

27. Microarray expression studies on bone marrow of patients with Shwachman-Diamond syndrome in relation to deletion of the long arm of chromosome 20, other chromosome anomalies or normal karyotype

Author

Khan, A. W., Minelli, A., Frattini, A., Montalbano, G., Bogni, A., Fabbri, M., Porta, G., Acquati, F., Pinto, R. M., Bergami, E., Mura, R., Pegoraro, A., Cesaro, S., Cipolli, M., Zecca, M., Danesino, C., Locatelli, Franco, Maserati, E., Pasquali, F., Valli, R., Locatelli F. (ORCID:0000-0002-7976-3654), Khan, A. W., Minelli, A., Frattini, A., Montalbano, G., Bogni, A., Fabbri, M., Porta, G., Acquati, F., Pinto, R. M., Bergami, E., Mura, R., Pegoraro, A., Cesaro, S., Cipolli, M., Zecca, M., Danesino, C., Locatelli, Franco, Maserati, E., Pasquali, F., Valli, R., and Locatelli F. (ORCID:0000-0002-7976-3654)

Abstract

Background: Clonal chromosome changes are often found in the bone marrow (BM) of patients with Shwachman-Diamond syndrome (SDS). The most frequent ones include an isochromosome of the long arm of chromosome 7, i (7)(q10), and an interstitial deletion of the long arm of chromosome 20, del (20)(q). These two imbalances are mechanisms of somatic genetic rescue. The literature offers few expression studies on SDS. Results: We report the expression analysis of bone marrow (BM) cells of patients with SDS in relation to normal karyotype or to the presence of clonal chromosome anomalies: del (20)(q) (five cases), i (7)(q10) (one case), and other anomalies (two cases). The study was performed using the microarray technique considering the whole transcriptome (WT) and three gene subsets selected as relevant in BM functions. The expression patterns of nine healthy controls and SDS patients with or without chromosome anomalies in the bone marrow showed clear differences. Conclusions: There is a significant difference between gene expression in the BM of SDS patients and healthy subjects, both at the WT level and in the selected gene sets. The deletion del (20)(q), with the EIF6 gene consistently lost, even in patients with the smallest losses of material, changes the transcription pattern: a low proportion of abnormal cells led to a pattern similar to SDS patients without acquired anomalies, whereas a high proportion yields a pattern similar to healthy subjects. Hence, the benign prognostic value of del (20)(q). The case of i (7)(q10) showed a transcription pattern similar to healthy subjects, paralleling the positive prognostic role of this anomaly as well.

Published
2020

28. P134 SARS-CoV-2 infection in cystic fibrosis during the first pandemic wave in Italy: a multi-centre prospective study with a control group

Author

Colombo, C., primary, Alicandro, G., additional, Daccó, V., additional, Gagliano, V., additional, Morlacchi, L.C., additional, Casciaro, R., additional, Pisi, G., additional, Francalanci, M., additional, Cavallo, A., additional, Poli, P., additional, Folino, A., additional, Messore, B., additional, Cristadoro, S., additional, Leonetti, G., additional, Maschio, M., additional, Lucca, F., additional, and Cipolli, M., additional

Published
2021
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32. P183 Increase of HLA-G in plasma of cystic fibrosis paediatric patients treated with Docosahexaenoic acid (DHA)

Author

Melotti, P., primary, Tridello, G., additional, Rizzo, R., additional, Volpi, S., additional, Passiu, M., additional, Meneghelli, I., additional, Cordioli, S., additional, Sorio, C., additional, Bergamini, G., additional, Calcaterra, E., additional, Boraso, M., additional, Salmona, M., additional, Diomede, L., additional, Rise, P., additional, Cipolli, M., additional, Assael, B.M., additional, and D’Orazio, C., additional

Published
2020
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34. P007 Functional characterisation of c.1584+18672bpA>G/2183AA>G CFTR variant in rectal organoids

Author

Conti, J., primary, Kleinfelder, K., additional, Lotti, V., additional, Preato, S., additional, Farinazzo, A., additional, Quiri, F., additional, Pintani, E., additional, Treggiari, D., additional, Rodella, L., additional, Cerofolini, A., additional, Catalano, F., additional, Tomba, F., additional, DeJonge, H., additional, Cipolli, M., additional, Sorio, C., additional, and Melotti, P., additional

Published
2020
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35. WS21.5 Response to ivacaftor of the rare CFTR variants W57G and A234D in intestinal organoids and Fisher Rat Tyroid (FRT) cells

Author

Lotti, V., primary, Kleinfelder, K., additional, Farinazzo, A., additional, Bertini, M., additional, Pauro, F., additional, Treggiari, D., additional, Conti, J., additional, Preato, S., additional, Quiri, F., additional, Pintani, E., additional, Rodella, L., additional, Cerofolini, A., additional, Catalano, F., additional, Tomba, F., additional, Cipolli, M., additional, DeJonge, H., additional, Sorio, C., additional, and Melotti, P., additional

Published
2020
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39. Italian Cystic Fibrosis Registry (ICFR). Report 2015-2016

Author

Giordani, B., Amato, A., Majo, F., Ferrari, G., Quattrucci, S., Minicucci, L., Padoan, R., Floridia, G., Salvatore, D., Carnovale, V., Puppo Fornaro, G., Taruscio, D., Salvatore, M., Albera, C, Amato, A, Angiolillo, A, Baldo, E, Battistini, F, Bena, C, Bernardi, Mg, Bertasi, S, Bignamini, E, Bisogno, A, Braggion, C, Cannata, L, Carnicella, A, Carnovale, V, Ciciretti, Ma, Cipolli, M, Cirilli, N, Colombo, C, Cucchiara, S, Di Sabatino, M, Di Stefano, E, Fabrizi, B, Ferrari, G, Ficili, F, Floridia, G, Francalanci, M, Gagliardini, R, Giordani, B, Iansa, P, Laezza, C, Leonardi, S, Lucanto, Mc, Lucidi, V, Macchiaroli, Am, Magazzù, G, Majo, F, Manca, A, Maschio, M, Mascotto, D, Mencarini, V, Minicucci, L, Moretti, P, Negri, A, Padoan, R, Palladino, N, Pintani, E, Pisano, G, Pisi, G, Pizzamiglio, G, Quattrucci, S, Raia, V, Ratclif, L, Ros, M, Rotolo, N, Salvatore, D, Salvatore, M, Spaggiari, C, Taruscio, D, Tonelli, T, Tuccio, G, Vassanelli, C, Vitullo, P, and Zavataro L, .

Published
2019

42. Shwachman-Diamond syndrome with clonal interstitial deletion of the long arm of chromosome 20 in bone marrow: haematological features, prognosis and genomic instability

Author

Valli, R, Minelli, A, Galbiati, M, D'Amico, G, Frattini, A, Montalbano, G, Khan, A, Porta, G, Millefanti, G, Olivieri, C, Cipolli, M, Cesaro, S, Pasquali, F, Danesino, C, Cazzaniga, G, Maserati, E, Valli, Roberto, Minelli, Antonella, Galbiati, Marta, D'Amico, Giovanna, Frattini, Annalisa, Montalbano, Giuseppe, Khan, Abdul W., Porta, Giovanni, Millefanti, Giorgia, Olivieri, Carla, Cipolli, Marco, Cesaro, Simone, Pasquali, Francesco, Danesino, Cesare, Cazzaniga, Giovanni, Maserati, Emanuela, Valli, R, Minelli, A, Galbiati, M, D'Amico, G, Frattini, A, Montalbano, G, Khan, A, Porta, G, Millefanti, G, Olivieri, C, Cipolli, M, Cesaro, S, Pasquali, F, Danesino, C, Cazzaniga, G, Maserati, E, Valli, Roberto, Minelli, Antonella, Galbiati, Marta, D'Amico, Giovanna, Frattini, Annalisa, Montalbano, Giuseppe, Khan, Abdul W., Porta, Giovanni, Millefanti, Giorgia, Olivieri, Carla, Cipolli, Marco, Cesaro, Simone, Pasquali, Francesco, Danesino, Cesare, Cazzaniga, Giovanni, and Maserati, Emanuela

Abstract

In Shwachman-Diamond syndrome (SDS), deletion of the long arm of chromosome 20, del(20)(q), often acquired in bone marrow (BM), may imply a lower risk of developing myelodysplastic syndrome/acute myeloid leukaemia (MDS/AML), due to the loss of the EIF6 gene. The genes L3MBTL1 and SGK2, also on chromosome 20, are in a cluster of imprinted genes, and their loss implies dysregulation of BM function. We report here the results of array comparative genomic hybridization (a-CGH) performed on BM DNA of six patients which confirmed the consistent loss of EIF6 gene. Interestingly, array single nucleotide polymorphisms (SNPs) showed copy neutral loss of heterozygosity for EIF6 region in cases without del(20)(q). No preferential parental origin of the deleted chromosome 20 was detected by microsatellite analysis in six SDS patients. Our patients showed a very mild haematological condition, and none evolved into BM aplasia or MDS/AML. We extend the benign prognostic significance of del(20)(q) and loss of EIF6 to the haematological features of these patients, consistently characterized by mild hypoplastic BM, no or mild neutropenia, anaemia and thrombocytopenia. Some odd results obtained in microsatellite and SNP-array analysis demonstrate a peculiar genomic instability, in an attempt to improve BM function through the acquisition of the del(20)(q).

Published
2019

44. Mesenchymal stromal cells from Shwachman-Diamond syndrome patients fail to recreate a bone marrow niche in vivo and exhibit impaired angiogenesis

Author

Bardelli, D, Dander, E, Bugarin, C, Cappuzzello, C, Pievani, A, Fazio, G, Pierani, P, Corti, P, Farruggia, P, Dufour, C, Cesaro, S, Cipolli, M, Biondi, A, D'Amico, G, Bardelli, Donatella, Dander, Erica, Bugarin, Cristina, Cappuzzello, Claudia, Pievani, Alice, Fazio, Grazia, Pierani, Paolo, Corti, Paola, Farruggia, Piero, Dufour, Carlo, Cesaro, Simone, Cipolli, Marco, Biondi, Andrea, D'Amico, Giovanna, Bardelli, D, Dander, E, Bugarin, C, Cappuzzello, C, Pievani, A, Fazio, G, Pierani, P, Corti, P, Farruggia, P, Dufour, C, Cesaro, S, Cipolli, M, Biondi, A, D'Amico, G, Bardelli, Donatella, Dander, Erica, Bugarin, Cristina, Cappuzzello, Claudia, Pievani, Alice, Fazio, Grazia, Pierani, Paolo, Corti, Paola, Farruggia, Piero, Dufour, Carlo, Cesaro, Simone, Cipolli, Marco, Biondi, Andrea, and D'Amico, Giovanna

Abstract

Shwachman-Diamond syndrome (SDS) is a rare multi-organ recessive disease mainly characterised by pancreatic insufficiency, skeletal defects, short stature and bone marrow failure (BMF). As in many other BMF syndromes, SDS patients are predisposed to develop a number of haematopoietic malignancies, particularly myelodysplastic syndrome and acute myeloid leukaemia. However, the mechanism of cancer predisposition in SDS patients is only partially understood. In light of the emerging role of mesenchymal stromal cells (MSCs) in the regulation of bone marrow homeostasis, we assessed the ability of MSCs derived from SDS patients (SDS-MSCs) to recreate a functional bone marrow niche, taking advantage of a murine heterotopic MSC transplant model. We show that the ability of semi-cartilaginous pellets (SCPs) derived from SDS-MSCs to generate complete heterotopic ossicles in vivo is severely impaired in comparison with HD-MSC-derived SCPs. Specifically, after in vitro angiogenic stimuli, SDS-MSCs showed a defective ability to form correct networks, capillary tubes and vessels and displayed a marked decrease in VEGFA expression. Altogether, these findings unveil a novel mechanism of SDS-mediated haematopoietic dysfunction based on hampered ability of SDS-MSCs to support angiogenesis. Overall, MSCs could represent a new appealing therapeutic target to treat dysfunctional haematopoiesis in paediatric SDS patients

Published
2018

45. Ataluren-driven restoration of Shwachman-Bodian-Diamond syndrome protein function in Shwachman-Diamond syndrome bone marrow cells

Author

Bezzerri, V, Bardelli, D, Morini, J, Vella, A, Cesaro, S, Sorio, C, Biondi, A, Danesino, C, Farruggia, P, Assael, B, D'Amico, G, Cipolli, M, Bezzerri, Valentino, Bardelli, Donatella, Morini, Jacopo, Vella, Antonio, Cesaro, Simone, Sorio, Claudio, Biondi, Andrea, Danesino, Cesare, Farruggia, Piero, Assael, Baroukh Maurice, D'amico, Giovanna, Cipolli, Marco, Bezzerri, V, Bardelli, D, Morini, J, Vella, A, Cesaro, S, Sorio, C, Biondi, A, Danesino, C, Farruggia, P, Assael, B, D'Amico, G, Cipolli, M, Bezzerri, Valentino, Bardelli, Donatella, Morini, Jacopo, Vella, Antonio, Cesaro, Simone, Sorio, Claudio, Biondi, Andrea, Danesino, Cesare, Farruggia, Piero, Assael, Baroukh Maurice, D'amico, Giovanna, and Cipolli, Marco

Abstract

Shwachman-Diamond syndrome (SDS) is a rare inherited recessive disease mainly caused by mutations in the Shwachman-Bodian-Diamond syndrome (SBDS) gene, which encodes for the homonymous protein SBDS, whose function still remains to be fully established. SDS affects several organs causing bone marrow failure, exocrine pancreatic insufficiency, skeletal malformations, and cognitive disorders. About 15% of SDS patients develop myelodysplastic syndrome (MDS) and are at higher risk of developing acute myeloid leukemia (AML). Deficiency in SBDS expression has been associated with increased apoptosis and lack of myeloid differentiation in bone marrow hematopoietic progenitors. Importantly, most SDS patients carry nonsense mutations in SBDS. Since ataluren is a well-characterized small molecule inhibitor that can suppress nonsense mutations, here, we have assessed the efficacy of this drug in restoring SBDS expression in hematopoietic cells obtained from a cohort of SDS patients. Remarkably, we show that ataluren treatment readily restores SBDS protein expression in different cell types, particularly bone marrow stem cells. Furthermore, ataluren promotes myeloid differentiation in hematopoietic progenitors, reduces apoptotic rate in primary PBMCs, and brings mammalian target of rapamycin phosphorylation levels back to normal in both lymphoblasts and bone marrow mesenchymal stromal cells (BM-MSCs). Since a specific therapy against SDS is currently lacking, these results provide the rationale for ataluren repurposing clinical trials.

Published
2018

47. IPD2.07 Retrospective observational study in cystic fibrosis patients homozygous for F508del treated with lumacaftor/ivacaftor in a compassionate use programme

Author

Iacotucci, P., primary, Carnovale, V., additional, Blasi, F., additional, Braggion, C., additional, Castellani, C., additional, Cipolli, M., additional, Collura, M., additional, Colombo, C., additional, Lucidi, V., additional, Minicucci, L., additional, Manca, A., additional, Magazzù, G., additional, and Ferrara, N., additional

Published
2018
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49. Studio prospettico-osservazionale su sopravvivenza a lungo termine e prevalenza delle complicanze ematologiche nei pazienti italiani affetti da sindrome di Shwachman-Diamond

Author

Pegoraro, A., Tridello, G., Sainati, L., Lucidi, V., Menna, G., Faruggina, P., Vigo, A., Nasi, C., Raia, V., Perobelli, S, Nicolis, Elena, Danesino, C., Pasquali, F., Cipolli, M., and Cesaro, Simone

Subjects
sopravvivenza, malattia di Shwachman, malattia di Shwachman, registro italiano, sopravvivenza, registro italiano
Published
2016

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