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151 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. 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

Author

Vella, A, D'Aversa, E, Api, M, Breveglieri, G, Allegri, M, Giacomazzi, A, Busilacchi, E, Fabrizzi, B, Cestari, T, Sorio, C, Bedini, G, D'Amico, G, Bronte, V, Poloni, A, Benedetti, A, Bovo, C, Corey, S, Borgatti, M, Cipolli, M, Bezzerri, V, Vella A., D'aversa E., Api M., Breveglieri G., Allegri M., Giacomazzi A., Busilacchi E. M., Fabrizzi B., Cestari T., Sorio C., Bedini G., D'amico G., Bronte V., Poloni A., Benedetti A., Bovo C., Corey S. J., Borgatti M., Cipolli M., Bezzerri V., Vella, A, D'Aversa, E, Api, M, Breveglieri, G, Allegri, M, Giacomazzi, A, Busilacchi, E, Fabrizzi, B, Cestari, T, Sorio, C, Bedini, G, D'Amico, G, Bronte, V, Poloni, A, Benedetti, A, Bovo, C, Corey, S, Borgatti, M, Cipolli, M, Bezzerri, V, Vella A., D'aversa E., Api M., Breveglieri G., Allegri M., Giacomazzi A., Busilacchi E. M., Fabrizzi B., Cestari T., Sorio C., Bedini G., D'amico G., Bronte V., Poloni A., Benedetti A., Bovo C., Corey S. J., Borgatti M., Cipolli M., and Bezzerri V.

Abstract

Shwachman–Diamond syndrome (SDS) is a rare inherited bone marrow failure syndrome, resulting in neutropenia and a risk of myeloid neoplasia. A mutation in a ribosome maturation factor accounts for almost all of the cases. Lymphoid involvement in SDS has not been well characterized. We recently reported that lymphocyte subpopulations are reduced in SDS patients. We have also shown that the mTOR-STAT3 pathway is hyper-activated in SDS myeloid cell populations. Here we show that mTOR-STAT3 signaling is markedly upregulated in the lymphoid compartment of SDS patients. Furthermore, our data reveal elevated IL-6 levels in cellular supernatants obtained from lymphoblasts, bone marrow mononuclear and mesenchymal stromal cells, and plasma samples obtained from a cohort of 10 patients. Of note, everolimus-mediated inhibition of mTOR signaling is associated with basal state of phosphorylated STAT3. Finally, inhibition of mTOR-STAT3 pathway activation leads to normalization of IL-6 expression in SDS cells. Altogether, our data strengthen the hypothesis that SDS affects both lymphoid and myeloid blood compartment and suggest everolimus as a potential therapeutic agent to reduce excessive mTOR-STAT3 activation in SDS.

Published
2020

22. [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

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

24. 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

25. 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

26. 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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28. 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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30. 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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31. 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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34. 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

35. 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

36. 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

37. 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

39. 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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45. Structural variation in SBDS gene, with loss of exon 3, in two Shwachman-Diamond patients

Author

Minelli, A., Nacci, L., Valli, R., Pietrocola, G., Ramenghi, U., Locatelli, Franco, Brescia, L., Nicolis, E., Cipolli, M., Danesino, C., Locatelli F. (ORCID:0000-0002-7976-3654), Minelli, A., Nacci, L., Valli, R., Pietrocola, G., Ramenghi, U., Locatelli, Franco, Brescia, L., Nicolis, E., Cipolli, M., Danesino, C., and Locatelli F. (ORCID:0000-0002-7976-3654)

Abstract

NO ABSTRACT

Published
2016

46. 112 Analysis of long-term use of liposomal amikacin for inhalation (LAI) in patients with cystic fibrosis (CF) who have chronic infection from Pseudomonas aeruginosa

Author

Bilton, D., primary, Pressler, T., additional, Fajac, I., additional, Clancy, J.P., additional, Minic, P., additional, Cipolli, M., additional, Galeva, I., additional, Solé, A., additional, Dupont, L.J., additional, Mayer-Hamblett, N., additional, Torchio, S., additional, McGinnis, J.P., additional, Eagle, G., additional, and Konstan, M., additional

Published
2015
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48. Impact of CFTR Modulators on Beta-Cell Function in Children and Young Adults with Cystic Fibrosis

Author

Claudia Piona, Enza Mozzillo, Antonella Tosco, Sonia Volpi, Francesco Maria Rosanio, Chiara Cimbalo, Adriana Franzese, Valeria Raia, Chiara Zusi, Federica Emiliani, Maria Linda Boselli, Maddalena Trombetta, Riccardo Crocina Bonadonna, Marco Cipolli, Claudio Maffeis, Piona, C., Mozzillo, E., Tosco, A., Volpi, S., Rosanio, F. M., Cimbalo, C., Franzese, A., Raia, V., Zusi, C., Emiliani, F., Boselli, M. L., Trombetta, M., Bonadonna, R. C., Cipolli, M., and Maffeis, C.

Subjects
cystic fibrosis, elexacaftor-ivacaftor-tezacaftor, cftr modulator, β-cell function, cftr modulators, lumacaftor/ivacaftor, oral glucose tolerance test, glucose metabolism, insulin clearance, insulin sensitivity, General Medicine, cystic fibrosi
Abstract

Background: To date, no consistent data are available on the possible impact of CFTR modulators on glucose metabolism. The aim of this study was to test the hypothesis that treatment with CFTR modulators is associated with an improvement in the key direct determinants of glucose regulation in children and young adults affected by Cystic Fibrosis (CF). Methods: In this study, 21 CF patients aged 10–25 underwent oral glucose tolerance test (OGTT) before and after 12–18 months of treatment with Lumacaftor/Ivacaftor or Elexacaftor-Ivacaftor-Tezacaftor. β-cell function (i.e., first and second phase of insulin secretion measured as derivative and proportional control, respectively) and insulin clearance were estimated by OGTT mathematical modelling. Insulin sensitivity was estimated by the Oral Glucose Sensitivity Index (OGIS). The dynamic interplay between β-cell function, insulin clearance and insulin sensitivity was analysed by vector plots of glucose-stimulated insulin bioavailability vs. insulin sensitivity. Results: No changes in glucose tolerance occurred after either treatment, whereas a significant improvement in pulmonary function and chronic bacterial infection was observed. Beta cell function and insulin clearance did not change in both treatment groups. Insulin sensitivity worsened in the Lumacaftor/Ivacaftor group. The analysis of vector plots confirmed that glucose regulation was stable in both groups. Conclusions: Treatment of CF patients with CFTR modulators does not significantly ameliorate glucose homeostasis and/or any of its direct determinants.

Published
2022

49. Clinical course and risk factors for severe COVID-19 among Italian patients with cystic fibrosis: a study within the Italian Cystic Fibrosis Society

Author

Carla, Colombo, Marco, Cipolli, Valeria, Daccò, Paola, Medino, 1 Federico Alghisi, 4 Maura Ambroni, 5 Raffaele Badolato, 6 Fiorella Battistini, 5 Elisabetta Bignamini, 7 Rosaria Casciaro, 8 Fabiana Ciciriello, 4 Mirella Collura, 9 Isabella Comello, 10 Michela Francalanci, 11 Francesca Ficili, 9 Anna Folino, Leonardi, Salvatore, 12 Giuseppina Leonetti, 13 Maria Cristina Lucanto, 14 Francesca Lucca, 3 Massimo Maschio, 15 Valeria Mencarini, 16 Barbara Messore, 17 Giovanna Pisi, 18 Giovanna Pizzamiglio, 19 Piercarlo Poli, 6 Valeria Raia, 20 Luca Riberi, 17 Mirco Ros, 10 Novella Rotolo, 12 Angela Sepe, 20 Giovanni Taccetti, 11 Pamela Vitullo, 21 and Gianfranco Alicandro1, 2, Colombo, C, Cipolli, M, Daccò, V, Medino, P, Alghisi, F, Ambroni, M, Badolato, R, Battistini, F, Bignamini, E, Casciaro, R, Ciciriello, F, Collura, M, Comello, I, Francalanci, M, Ficili, F, Folino, A, Leonardi, S, Leonetti, G, Lucanto, Mc, Lucca, F, Maschio, M, Mencarini, V, Messore, B, Pisi, G, Pizzamiglio, G, Poli, P, Raia, V, Riberi, L, Ros, M, Rotolo, N, Sepe, A, Taccetti, G, Vitullo, P, and Alicandro, G.

Subjects
Microbiology (medical), Original Paper, Pandemic, SARS-CoV-2, COVID-19, General Medicine, Cystic fibrosis, Infectious Diseases, Italy, Risk Factors, Cystic fibrosi, Humans, Exocrine Pancreatic Insufficiency, Prospective Studies
Abstract

Purpose To describe the clinical course of COVID-19 in patients with cystic fibrosis (CF) and to identify risk factors for severe COVID-19. Methods We conducted a prospective study within the Italian CF Society. CF centers collected baseline and follow-up data of patients with virologically confirmed SARS-CoV-2 infection between March 2020 and June 2021. Odds ratios (ORs) for severe SARS-CoV-2 (as defined by hospital admission) were estimated by logistic regression models. Results The study included 236 patients with positive molecular test for SARS-CoV-2. Six patients died, 43 patients were admitted to hospital, 4 admitted to intensive care unit. Pancreatic insufficiency was associated with increased risk of severe COVID-19 (OR 4.04, 95% CI 1.52; 10.8). After adjusting for age and pancreatic insufficiency, forced expiratory volume in one second (FEVp)

Published
2021

50. Glucose Tolerance Stages in Cystic Fibrosis Are Identified by a Unique Pattern of Defects of Beta-Cell Function

Author

Chiara Zusi, Enza Mozzillo, Maddalena Trombetta, Antonella Tosco, Adriana Franzese, Valeria Raia, Maria Linda Boselli, Sonia Volpi, Riccardo C. Bonadonna, Claudio Maffeis, Claudia Piona, Marco Cipolli, Piona, C, Volpi, S, Zusi, C, Mozzillo, E, Tosco, A, Franzese, A, Raia, V, Boselli, Ml, Trombetta, M, Cipolli, M, Bonadonna, Rc, and Maffeis, C.

Subjects
Adult, Blood Glucose, Male, medicine.medical_specialty, β-cell function, Adolescent, Cystic Fibrosis, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, glucose metabolism, Clinical Biochemistry, Beta-cell Function, Carbohydrate metabolism, oral glucose tolerance test, Biochemistry, Cystic fibrosis, Severity of Illness Index, Impaired glucose tolerance, Young Adult, Endocrinology, Diabetes mellitus, Internal medicine, Insulin-Secreting Cells, Glucose Intolerance, Insulin Secretion, medicine, Humans, insulin sensitivity, Child, cystic fibrosi, business.industry, Insulin, Biochemistry (medical), Insulin sensitivity, Glucose Tolerance Test, medicine.disease, Cross-Sectional Studies, Glucose, Italy, Carbohydrate Metabolism, Blood sugar regulation, Female, Insulin Resistance, business
Abstract

Objective We aimed to assess the order of severity of the defects of 3 direct determinants of glucose regulation—beta-cell function, insulin clearance, and insulin sensitivity—in patients with cystic fibrosis (CF), categorized according their glucose tolerance status, including early elevation of mid-level oral glucose tolerance test (OGTT) glucose values (>140 and Methods A total of 232 CF patients aged 10 to 25 years underwent OGTT. Beta-cell function and insulin clearance were estimated by OGTT mathematical modeling and OGTT-derived biomarkers of insulin secretion and sensitivity were calculated. The association between glucometabolic variables and 5 glucose tolerance stages (normal glucose tolerance [NGT], AGT140, indeterminate glucose tolerance [INDET], impaired glucose tolerance [IGT], cystic fibrosis–related diabetes CFRD]) was assessed with a general linear model. Results Beta-cell function and insulin sensitivity progressively worsened across glucose tolerance stages (P Conclusions In CF patients, each of the 5 glucose tolerance stages shows a unique pattern of defects of the direct determinants of glucose regulation, with AGT140 patients significantly differing from NGT and being similar to IGT. These findings suggest that AGT140 should be recognized as a distinct glucose tolerance stage and that reconsideration of the grade of glucometabolic deterioration across glucose tolerance stages in CF is warranted.

Published
2021

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