Search Results - "CASTELLANI, Carlo"

Newborn Screening for Cystic Fibrosis: Over the Hump, Still Need to Fine-Tune It by Castellani, Carlo

“…Today, newborn screening (NBS) is considered an essential component in the standards of care for cystic fibrosis (CF) [...]…”
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From Ivacaftor to Triple Combination: A Systematic Review of Efficacy and Safety of CFTR Modulators in People with Cystic Fibrosis by Gramegna, Andrea, Contarini, Martina, Aliberti, Stefano, Casciaro, Rosaria, Blasi, Francesco, Castellani, Carlo

“…Over the last years (cystic fibrosis transmembrane conductance regulator) modulators have shown the ability to improve relevant clinical outcomes in patients…”
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The future of cystic fibrosis care: a global perspective by Bell, Scott C, Mall, Marcus A, Gutierrez, Hector, Macek, Milan, Madge, Susan, Davies, Jane C, Burgel, Pierre-Régis, Tullis, Elizabeth, Castaños, Claudio, Castellani, Carlo, Byrnes, Catherine A, Cathcart, Fiona, Chotirmall, Sanjay H, Cosgriff, Rebecca, Eichler, Irmgard, Fajac, Isabelle, Goss, Christopher H, Drevinek, Pavel, Farrell, Philip M, Gravelle, Anna M, Havermans, Trudy, Mayer-Hamblett, Nicole, Kashirskaya, Nataliya, Kerem, Eitan, Mathew, Joseph L, McKone, Edward F, Naehrlich, Lutz, Nasr, Samya Z, Oates, Gabriela R, O'Neill, Ciaran, Pypops, Ulrike, Raraigh, Karen S, Rowe, Steven M, Southern, Kevin W, Sivam, Sheila, Stephenson, Anne L, Zampoli, Marco, Ratjen, Felix

“…The past six decades have seen remarkable improvements in health outcomes for people with cystic fibrosis, which was once a fatal disease of infants and young…”
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Newborn screening for cystic fibrosis by Castellani, Carlo, Dr, Massie, John, Prof, Sontag, Marci, PhD, Southern, Kevin W, Prof

“…Summary Since the late 1970s when the potential of the immunoreactive trypsinogen assay for early identification of infants with cystic fibrosis was first…”
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Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene by Sosnay, Patrick R, Siklosi, Karen R, Van Goor, Fredrick, Kaniecki, Kyle, Yu, Haihui, Sharma, Neeraj, Ramalho, Anabela S, Amaral, Margarida D, Dorfman, Ruslan, Zielenski, Julian, Masica, David L, Karchin, Rachel, Millen, Linda, Thomas, Philip J, Patrinos, George P, Corey, Mary, Lewis, Michelle H, Rommens, Johanna M, Castellani, Carlo, Penland, Christopher M, Cutting, Garry R

“…Garry Cutting and colleagues report a comprehensive functional and clinical analysis of CFTR variants reported in cystic fibrosis. They determine that 128 of…”
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Guidelines for Diagnosis of Cystic Fibrosis in Newborns through Older Adults: Cystic Fibrosis Foundation Consensus Report by Farrell, Philip M., MD, PhD, Rosenstein, Beryl J., MD, White, Terry B., PhD, Accurso, Frank J., MD, Castellani, Carlo, MD, Cutting, Garry R., MD, Durie, Peter R., MD, FRCP, LeGrys, Vicky A., DrA, CLS, Massie, John, MBBS, FRACP, PhD, Parad, Richard B., MD, MPH, Rock, Michael J., MD, Campbell, Preston W., MD

“…Newborn screening (NBS) for cystic fibrosis (CF) is increasingly being implemented and is soon likely to be in use throughout the United States, because early…”
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Modulation of Plasmatic Matrix Metalloprotease 9: A Promising New Tool for Understanding the Variable Clinical Responses of Patients with Cystic Fibrosis to Cystic Fibrosis Transmembrane Conductance Regulator Modulators by Capraro, Michela, Pedrazzi, Marco, De Tullio, Roberta, Manfredi, Marcello, Cresta, Federico, Castellani, Carlo, Averna, Monica

“…Background: The most recent modulator combination, elexacaftor/tezacaftor/ivacaftor (Trikafta®), has been shown to improve clinical outcomes in most patients…”
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The L467F-F508del Complex Allele Hampers Pharmacological Rescue of Mutant CFTR by Elexacaftor/Tezacaftor/Ivacaftor in Cystic Fibrosis Patients: The Value of the Ex Vivo Nasal Epithelial Model to Address Non-Responders to CFTR-Modulating Drugs by Sondo, Elvira, Cresta, Federico, Pastorino, Cristina, Tomati, Valeria, Capurro, Valeria, Pesce, Emanuela, Lena, Mariateresa, Iacomino, Michele, Baffico, Ave Maria, Coviello, Domenico, Bandiera, Tiziano, Zara, Federico, Galietta, Luis J V, Bocciardi, Renata, Castellani, Carlo, Pedemonte, Nicoletta

“…Loss-of-function mutations of the gene cause cystic fibrosis (CF) through a variety of molecular mechanisms involving altered expression, trafficking, and/or…”
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Applying Cystic Fibrosis Transmembrane Conductance Regulator Genetics and CFTR2 Data to Facilitate Diagnoses by Sosnay, Patrick R., MD, Salinas, Danieli B., MD, White, Terry B., PhD, Ren, Clement L., MD, Farrell, Philip M., MD, PhD, Raraigh, Karen S., MGC, Girodon, Emmanuelle, MD, Castellani, Carlo, MD

“…Objective As a Mendelian disease, genetics plays an integral role in the diagnosis of cystic fibrosis (CF). The identification of 2 disease-causing mutations…”
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Clinical Consequences and Functional Impact of the Rare S737F CFTR Variant and Its Responsiveness to CFTR Modulators by Terlizzi, Vito, Pesce, Emanuela, Capurro, Valeria, Tomati, Valeria, Lena, Mariateresa, Pastorino, Cristina, Bocciardi, Renata, Zara, Federico, Centrone, Claudia, Taccetti, Giovanni, Castellani, Carlo, Pedemonte, Nicoletta

“…S737F is a Cystic Fibrosis (CF) transmembrane conductance regulator (CFTR) missense variant. The aim of our study was to describe the clinical features of a…”
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Identification of Potential Leukocyte Biomarkers Related to Drug Recovery of CFTR: Clinical Applications in Cystic Fibrosis by Pedrazzi, Marco, Vercellone, Silvia, Barberis, Elettra, Capraro, Michela, De Tullio, Roberta, Cresta, Federico, Casciaro, Rosaria, Castellani, Carlo, Patrone, Mauro, Marengo, Emilio, Lecca, Paola, Melotti, Paola, Sorio, Claudio, Manfredi, Marcello, Averna, Monica

“…The aim of this study was the identification of specific proteomic profiles, related to a restored cystic fibrosis transmembrane conductance regulator (CFTR)…”
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In vivo public monitoring in emergency exposure scenarios by Ciciani, Luca, Vilardi, Ignazio, Rizzo, Alessandro, Antonacci, Giuseppe, Battisti, Paolo, Castellani, Carlo-Maria, Sperandio, Luciano

“…In a nuclear or radiological accident scenario, where members of the public can potentially take up anthropogenic radionuclides released in atmosphere,…”
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Cystic Fibrosis Diagnostic Challenges over 4 Decades: Historical Perspectives and Lessons Learned by Farrell, Philip M., MD, PhD, White, Terry B., PhD, Derichs, Nico, MD, Castellani, Carlo, MD, Rosenstein, Beryl J., MD

“…Objective Because cystic fibrosis (CF) can be difficult to diagnose, and because information about the genetic complexities and pathologic basis of the disease…”
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Efficacy of advanced hybrid closed loop systems in cystic fibrosis related diabetes: a pilot study by Bassi, Marta, Franzone, Daniele, Dufour, Francesca, Spacco, Giordano, Cresta, Federico, d'Annunzio, Giuseppe, Tantari, Giacomo, Calevo, Maria Grazia, Castellani, Carlo, Minuto, Nicola, Casciaro, Rosaria

“…Cystic fibrosis related diabetes (CFRD) is correlated with worsening of nutritional status and greater deterioration of lung function. The role of new…”
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Mental health and cystic fibrosis: Time to move from secondary prevention to predictive medicine by Amerio, Andrea, Sibilla, Francesca, Pescini, Rita, Ciprandi, Riccardo, Casciaro, Rosaria, Grimaldi Filioli, Pietro, Porcelli, Chiara, Odone, Anna, Costanza, Alessandra, Aguglia, Andrea, Serafini, Gianluca, Amore, Mario, Castellani, Carlo, Cresta, Federico

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Carrier screening for cystic fibrosis in the new era of medications that restore CFTR function by Massie, John, Dr, Castellani, Carlo, MD, Grody, Wayne W, MD

“…The widespread introduction of carrier screening for cystic fibrosis has been limited by several issues for health-care providers and policy makers, including…”
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Pharmacological rescue of the G85E CFTR variant by preclinical and approved modulators by Tomati, Valeria, Capurro, Valeria, Pesce, Emanuela, Pastorino, Cristina, Sondo, Elvira, Lena, Mariateresa, Borrelli, Anna, Cresta, Federico, Pantano, Stefano, Collini, Francesca, Ripani, Pietro, Terlizzi, Vito, Fevola, Cristina, Costa, Stefano, Lucanto, Maria Cristina, Zara, Federico, Bandiera, Tiziano, Bocciardi, Renata, Castellani, Carlo, Galietta, Luis J. V., Pedemonte, Nicoletta

“…Introduction Cystic Fibrosis (CF) is a genetic disease due to loss-of-function mutations of the CFTR channel. F508del is the most frequent mutation (70% of…”
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Immunoreactive trypsinogen levels in newborn screened infants with an inconclusive diagnosis of cystic fibrosis by Ooi, Chee Y, Sutherland, Rosie, Castellani, Carlo, Keenan, Katherine, Boland, Margaret, Reisman, Joe, Bjornson, Candice, Chilvers, Mark A, van Wylick, Richard, Kent, Steven, Price, April, Mateos-Corral, Dimas, Hughes, Daniel, Solomon, Melinda, Zuberbuhler, Peter, Brusky, Janna, Durie, Peter R, Ratjen, Felix, Gonska, Tanja

“…Newborn screening (NBS) for cystic fibrosis (CF) not only identifies infants with a diagnosis of CF, but also those with an uncertain diagnosis of cystic…”
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One-Year Effect of Elexacaftor/Tezacaftor/Ivacaftor Therapy on HbA1c Levels and Insulin Requirement in Patients with Insulin-Dependent Cystic Fibrosis-Related Diabetes: A Retrospective Observational Study by Bassi, Marta, Strati, Marina Francesca, Spiandorello, Gaia, Scalas, Marta, Cresta, Federico, Calevo, Maria Grazia, d'Annunzio, Giuseppe, Castellani, Carlo, Minuto, Nicola, Maghnie, Mohamad, Casciaro, Rosaria

“…The impact of ETI therapy on pulmonary function and nutritional status has been widely studied; the literature on the possible outcomes on glycemic control and…”
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Intraretinal changes in the presence of epiretinal traction by Romano, Mario R., Cennamo, Gilda, Amoroso, Francesca, Montorio, Daniela, Castellani, Carlo, Reibaldi, Michele, Cennamo, Giovanni

“…Background To determine the correlation between the area of morphological changes on the macular surface, the depth of intraretinal changes and the…”
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