Article
Biochemical Research Methods
Adriana Zardini Buzatto, Mai Abdel Jabar, Imran Nizami, Majed Dasouki, Liang Li, Anas M. Abdel Rahman
Summary: Cystic fibrosis is a genetic disease characterized by abnormal accumulation of mucus in various body tracts, caused by mutations in the CFTR gene. Lipid metabolism alterations related to the disease and different genotypic mutations have been uncovered through comprehensive lipidomics analysis, suggesting potential therapeutic targets. Dyslipidemia, particularly in odd-chain and polyunsaturated fatty acyl lipids, was observed in cystic fibrosis patients, alongside affected phosphatidic acids and diacylglycerols influenced by different genotypic mutation classes. Biomarker panels composed of specific lipids were able to classify patients and differentiate those with reduced lung function, providing valuable insights for future research and treatment.
JOURNAL OF PROTEOME RESEARCH
(2021)
Article
Pharmacology & Pharmacy
L. Clara Mok, Antonio Garcia-Uceda, Matthew N. Cooper, Mariette Kemner Van De Corput, Marleen De Bruijne, Nathalie Feyaerts, Tim Rosenow, Kris De Boeck, Stephen Stick, Harm A. W. M. Tiddens
Summary: Newly developed quantitative CT outcomes designed for CF lung disease can assess structural abnormalities. CFTR modulators have the potential to reduce these abnormalities. This study aimed to investigate the effect of CFTR modulators on the progression of structural lung disease.
FRONTIERS IN PHARMACOLOGY
(2023)
Review
Biochemistry & Molecular Biology
Aniello Meoli, Olaf Eickmeier, Giovanna Pisi, Valentina Fainardi, Stefan Zielen, Susanna Esposito
Summary: Cystic fibrosis, a genetically inherited disease caused by mutations in the CFTR gene, is a life-threatening disorder affecting multiple systems. CFTR modulators play a crucial role in influencing and eventually restoring lung phagocyte function.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Immunology
Buqing Yi, Alexander H. Dalpke, Sebastien Boutin
Summary: The development of CFTR modulator therapies has significantly changed the treatment scheme of people with cystic fibrosis, but further research is needed to understand the effects of such modulation on the airway microbiome for managing airway infections effectively.
FRONTIERS IN CELLULAR AND INFECTION MICROBIOLOGY
(2021)
Review
Biochemistry & Molecular Biology
Evelina Moliteo, Monica Sciacca, Antonino Palmeri, Maria Papale, Sara Manti, Giuseppe Fabio Parisi, Salvatore Leonardi
Summary: There is substantial evidence that patients with cystic fibrosis (CF) have higher oxidative stress levels, which contribute to the progression of chronic lung damage. CF patients exhibit an abnormal proinflammatory environment in their airways even before infection, possibly due to elevated oxidative stress and abnormal lipid metabolism. CFTR deficiency appears to cause a redox imbalance in epithelial cells and extracellular fluids.
Article
Radiology, Nuclear Medicine & Medical Imaging
Francesca Pennati, Irene Borzani, Laura Moroni, Maria Chiara Russo, Nadia Faelli, Andrea Aliverti, Carla Colombo
Summary: This study suggests that nonenhanced multivolume MRI may serve as a feasible tool for regionally mapping early pulmonary alterations in CF lung disease, and is correlated with spirometric measures.
JOURNAL OF MAGNETIC RESONANCE IMAGING
(2021)
Review
Biochemistry & Molecular Biology
Caitlyn Harvey, Sinead Weldon, Stuart Elborn, Damian G. Downey, Clifford Taggart
Summary: The advent of CFTR modulators in cystic fibrosis treatment has transformed the management of the disease, shifting it from being a life-limiting condition to one that can be effectively managed. These genotype-specific therapies have shown significant improvements in various clinical endpoints, but their effects on pathogenic burden and airway infection need further exploration.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Pharmacology & Pharmacy
Jia Liu, Allison P. Berg, Yiting Wang, Walailak Jantarajit, Katy J. Sutcliffe, Edward B. Stevens, Lishuang Cao, Marko J. Pregel, David N. Sheppard
Summary: This study investigates the action of a new CFTR potentiator, CP-628006, and compares it with the marketed CFTR potentiator ivacaftor. CP-628006 has distinct effects compared to ivacaftor, suggesting a different mechanism of CFTR potentiation. The emergence of CFTR potentiators with diverse modes of action makes therapy with combinations of potentiators a possibility.
BRITISH JOURNAL OF PHARMACOLOGY
(2022)
Article
Medicine, General & Internal
Hannah Farley, Sarah Poole, Stephen Chapman, William Flight
Summary: A retrospective single-center cohort study identified 19 adult patients diagnosed with CF, all of whom had a history of chronic respiratory symptoms and the majority of whom had a CFTR genotype considered eligible for CFTR modulator therapy.
POSTGRADUATE MEDICAL JOURNAL
(2022)
Review
Microbiology
Eneko Santos-Fernandez, Leire Martin-Souto, Aitziber Antoran, Maialen Areitio, Leire Aparicio-Fernandez, Jean-Philippe Bouchara, Carsten Schwarz, Aitor Rementeria, Idoia Buldain, Andoni Ramirez-Garcia
Summary: This review article discusses the interactions between fungi and bacteria in the respiratory tract of cystic fibrosis patients and their potential effects on the disease. It highlights the various molecules involved, such as quorum sensing-regulated molecules and fungal compounds, and their role in colonization, inflammation, and infection. Despite competition between microorganisms, co-colonization rates suggest that multiple factors influence the interactions. Therefore, further scientific and economic efforts are needed to intensify studies on bacterial-fungal inter-kingdom interactions in cystic fibrosis.
FEMS MICROBIOLOGY REVIEWS
(2023)
Article
Respiratory System
Nadine Bernasconi, Elisabeth Kieninger, Michelle Shaw, Johanna Kurz, Alexander Moeller, Felix Ratjen, Isabelle Rochat, Sanja Stanojevic, Florian Singer
Summary: Increased ventilation inhomogeneity is associated with reduced CFTR function in individuals with mild CF lung disease. LCI can be used as an indicator to identify and quantify ventilation inhomogeneity in these patients.
JOURNAL OF CYSTIC FIBROSIS
(2021)
Review
Biochemistry & Molecular Biology
Oscar Fonseca, Maria Salome Gomes, Maria Adelina Amorim, Ana Cordeiro Gomes
Summary: Cystic fibrosis, a monogenic disease, has a diverse clinical presentation involving chronic lung infection, inflammation, and reduced bone mass. The underlying mechanisms of reduced bone mass in cystic fibrosis patients are still unclear. This review explores the relationship between CFTR dysfunction and intrinsic bone defects, as well as the impact of the proinflammatory environment and chronic infection on bone mass maintenance in CF patients.
Article
Radiology, Nuclear Medicine & Medical Imaging
Filip Klimes, Andreas Voskrebenzev, Marcel Gutberlet, Milan Speth, Robert Grimm, Martha Dohna, Gesine Hansen, Frank Wacker, Diane Miriam Renz, Anna-Maria Dittrich, Jens Vogel-Claussen
Summary: This study aimed to investigate the efficacy of 3D phase-resolved functional lung (PREFUL)-MRI parameters in measuring the response to elexacaftor/tezacaftor/ivacaftor (ETI) therapy and their association with clinical outcomes in cystic fibrosis (CF) patients. The results showed significant improvements in all 3D PREFUL ventilation markers after ETI therapy, except for the mean RVent parameter. The improvement in ventilation volume normalized to body surface area (IVV) was significantly correlated with the relative treatment changes in MEF25 and mucus plugging score.
EUROPEAN RADIOLOGY
(2023)
Article
Microbiology
Mahasin Al Shakirchi, Kimmo Sorjonen, Lena Klingspor, Peter Bergman, Lena Hjelte, Isabelle de Monestrol
Summary: A retrospective observational cohort study spanning 16 years found that colonization of A. fumigatus in CF patients is associated with a decline in lung function, while eradication of the fungus, whether spontaneously or with treatment, leads to better pulmonary outcomes.
Article
Respiratory System
Carla Colombo, Grant A. Ramm, Anders Lindblad, Fabiola Corti, Luigi Porcaro, Federico Alghisi, Irina Asherova, Helen Evans, Nataliya Kashirskaya, Elena Kondratyeva, Peter J. Lewindon, Isabelle de Monestrol, Mark Oliver, Chee Y. Ooi, Rita Padoan, Sahana Shankar, Gianfranco Alicandro
Summary: Cystic-fibrosis-related liver disease (CFLD) is a variable phenotype of CF. CFTR modulator therapies, elexacaftor, tezacaftor, and ivacaftor (ETI), and ivacaftor (IVA), are available for CF patients. Genetic eligibility evaluation showed that 13% of patients without CFLD and 11% of patients with severe CFLD are not eligible for ETI or IVA therapy. Ineligible patients cannot benefit from these new treatments.
JOURNAL OF CYSTIC FIBROSIS
(2023)
Article
Critical Care Medicine
Connor Lewis, Scott M. Blackman, Amanda Nelson, Ewa Oberdorfer, Daniel Wells, Jordan Dunitz, William Thomas, Antoinette Moran
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE
(2015)
Article
Nutrition & Dietetics
Gia M. Bradley, Scott M. Blackman, Christopher P. Watson, Vishal K. Doshi, Garry R. Cutting
AMERICAN JOURNAL OF CLINICAL NUTRITION
(2012)
Article
Endocrinology & Metabolism
Scott M. Blackman, Clayton W. Commander, Christopher Watson, Kristin M. Arcara, Lisa J. Strug, Jaclyn R. Stonebraker, Fred A. Wright, Johanna M. Rommens, Lei Sun, Rhonda G. Pace, Sarah A. Norris, Peter R. Durie, Mitchell L. Drumm, Michael R. Knowles, Garry R. Cutting
Article
Endocrinology & Metabolism
Jamie R. Wood, Kellee M. Miller, David M. Maahs, Roy W. Beck, Linda A. DiMeglio, Ingrid M. Libman, Maryanne Quinn, William V. Tamborlane, Stephanie E. Woerner
Article
Endocrinology & Metabolism
Roy W. Beck, William V. Tamborlane, Richard M. Bergenstal, Kellee M. Miller, Stephanie N. DuBose, Callyn A. Hall
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2012)
Article
Endocrinology & Metabolism
Ruth S. Weinstock, Dongyuan Xing, David M. Maahs, Aaron Michels, Michael R. Rickels, Anne L. Peters, Richard M. Bergenstal, Breanne Harris, Stephanie N. DuBose, Kellee M. Miller, Roy W. Beck
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2013)
Article
Pediatrics
Deanna M. Green, J. Michael Collaco, Kathryn E. McDougal, Kathleen M. Naughton, Scott M. Blackman, Garry R. Cutting
JOURNAL OF PEDIATRICS
(2012)
Article
Pediatrics
Christopher B. Morrow, Karen S. Raraigh, Deanna M. Green, Scott M. Blackman, Garry R. Cutting, Joseph M. Collaco
JOURNAL OF PEDIATRICS
(2014)
Article
Genetics & Heredity
Fred A. Wright, Lisa J. Strug, Vishal K. Doshi, Clayton W. Commander, Scott M. Blackman, Lei Sun, Yves Berthiaume, David Cutler, Andreea Cojocaru, J. Michael Collaco, Mary Corey, Ruslan Dorfman, Katrina Goddard, Deanna Green, Jack W. Kent, Ethan M. Lange, Seunggeun Lee, Weili Li, Jingchun Luo, Gregory M. Mayhew, Kathleen M. Naughton, Rhonda G. Pace, Peter Pare, Johanna M. Rommens, Andrew Sandford, Jaclyn R. Stonebraker, Wei Sun, Chelsea Taylor, Lori L. Vanscoy, Fei Zou, John Blangero, Julian Zielenski, Wanda K. O'Neal, Mitchell L. Drumm, Peter R. Durie, Michael R. Knowles, Garry R. Cutting
Article
Genetics & Heredity
Lei Sun, Johanna M. Rommens, Harriet Corvol, Weili Li, Xin Li, Theodore A. Chiang, Fan Lin, Ruslan Dorfman, Pierre-Francois Busson, Rashmi V. Parekh, Diana Zelenika, Scott M. Blackman, Mary Corey, Vishal K. Doshi, Lindsay Henderson, Kathleen M. Naughton, Wanda K. O'Neal, Rhonda G. Pace, Jaclyn R. Stonebraker, Sally D. Wood, Fred A. Wright, Julian Zielenski, Annick Clement, Mitchell L. Drumm, Pierre-Yves Boelle, Garry R. Cutting, Michael R. Knowles, Peter R. Durie, Lisa J. Strug
Article
Endocrinology & Metabolism
Meredith S. Campbell, Desmond A. Schatz, Vincent Chen, Jenise C. Wong, Andrea Steck, William V. Tamborlane, Jennifer Smith, Roy W. Beck, Eda Cengiz, Lori M. Laffel, Kellee M. Miller, Michael J. Haller
PEDIATRIC DIABETES
(2014)
Article
Endocrinology & Metabolism
Scott M. Blackman, Dan Raghinaru, Saleh Adi, Jill H. Simmons, Laurie Ebner-Lyon, H. Peter Chase, William V. Tamborlane, Desmond A. Schatz, Jennifer M. Block, Jean C. Litton, Vandana Raman, Nicole C. Foster, Craig R. Kollman, Stephanie N. DuBose, Kellee M. Miller, Roy W. Beck, Linda A. DiMeglio
PEDIATRIC DIABETES
(2014)
Article
Pediatrics
Chelsea Taylor, Clayton W. Commander, Joseph M. Collaco, Lisa J. Strug, Weili Li, Fred A. Wright, Aaron D. Webel, Rhonda G. Pace, Jaclyn R. Stonebraker, Kathleen Naughton, Ruslan Dorfman, Andrew Sandford, Scott M. Blackman, Yves Berthiaume, Peter Pare, Mitchell L. Drumm, Julian Zielenski, Peter Durie, Garry R. Cutting, Michael R. Knowles, Mary Corey
PEDIATRIC PULMONOLOGY
(2011)
Article
Respiratory System
Joseph M. Collaco, Scott M. Blackman, Karen S. Raraigh, Christopher B. Morrow, Garry R. Cutting, Shruti M. Paranjape
BMC PULMONARY MEDICINE
(2014)
Article
Genetics & Heredity
Lindsay B. Henderson, Vishal K. Doshi, Scott M. Blackman, Kathleen M. Naughton, Rhonda G. Pace, Jackob Moskovitz, Michael R. Knowles, Peter R. Durie, Mitchell L. Drumm, Garry R. Cutting