Open AccessBook
Cystic Fibrosis
Reads0
Chats0
TLDR
Advances in understanding and treatment of cystic fibrosis are summarized, focusing on pulmonary disease, which accounts for most morbidity and deaths.Abstract:
Cystic fibrosis is the most common autosomal recessive disorder in white people, with a frequency of about 1 in 2500 livebirths. Discovery of the mutated gene encoding a defective chloride channel in epithelial cells--named cystic fibrosis transmembrane conductance regulator (CFTR)--has improved our understanding of the disorder's pathophysiology and has aided diagnosis, but has shown the disease's complexity. Gene replacement therapy is still far from being used in patients with cystic fibrosis, mostly because of difficulties of targeting the appropriate cells. Life expectancy of patients with the disorder has been greatly increased over past decades because of better notions of symptomatic treatment strategies. Here, we summarise advances in understanding and treatment of cystic fibrosis, focusing on pulmonary disease, which accounts for most morbidity and deaths.read more
Citations
More filters
Journal ArticleDOI
Pseudomonas aeruginosa: An Audacious Pathogen with an Adaptable Arsenal of Virulence Factors.
TL;DR: A review of the main virulence factors of Pseudomonas aeruginosa and the adaptations it undergoes to persist in hostile environments such as the CF respiratory tract is presented in this paper.
Journal ArticleDOI
Blue journal conference. Aging and susceptibility to lung disease.
Victor J. Thannickal,Mahadev Murthy,William E. Balch,Navdeep S. Chandel,Silke Meiners,Oliver Eickelberg,Moisés Selman,Annie Pardo,Eric S. White,Bruce D. Levy,Paula J. Busse,Rubin M. Tuder,Veena B. Antony,Jacob I. Sznajder,G. R. Scott Budinger +14 more
TL;DR: This article used the input gathered at the ATS meeting to develop a broad framework and perspective to stimulate basic, clinical, and translational research to understand how the aging process contributes to the onset and/or progression of lung diseases.
Journal ArticleDOI
Hyperpolarized HHe 3 MRI of the lung in cystic fibrosis: assessment at baseline and after bronchodilator and airway clearance treatment.
Kimiknu Mentore,Deborah K. Froh,Eduard E. de Lange,James R. Brookeman,Alix Paget-Brown,Talissa A. Altes,Talissa A. Altes +6 more
TL;DR: In patients with CF, HHe MR ventilation defects correlate with spirometry, change with treatment, and are elevated in number, which may be useful in the evaluation of CF pulmonary disease severity or progression.
Journal ArticleDOI
Characterization of the Polymyxin B Resistome of Pseudomonas aeruginosa
Lucía Fernández,Carolina Alvarez-Ortega,Irith Wiegand,Jorge Olivares,Dana Kocíncová,Joseph S. Lam,José L. Martínez,Robert E. W. Hancock +7 more
TL;DR: The results emphasize the importance of LPS integrity and lipid A modification in resistance to polymyxins in P. aeruginosa, highlighting the relevance of characterizing the genes that affect biosynthesis of cell surface structures in this pathogen to follow the evolution of peptide resistance in the clinic.
Journal ArticleDOI
Pathology of gastrointestinal organs in a porcine model of cystic fibrosis.
TL;DR: Mulus cell hyperplasia and mucus accumulation play prominent roles in early disease in CFTR-/- pigs, and these findings lay the foundation for a better understanding of CF pathogenesis.
References
More filters
Journal ArticleDOI
Modifier genes in cystic fibrosis lung disease.
TL;DR: It is now clear that CFTR genotype alone does not account for the wide diversity in CF pulmonary phenotype and evidence is accumulating that secondary genetic factors separate from the CFTR locus significantly influence the severity of CF lung disease.
Related Papers (5)
A CFTR potentiator in patients with cystic fibrosis and the G551D mutation
Bonnie W. Ramsey,Jane C. Davies,N. Gerard McElvaney,Elizabeth Tullis,Scott C. Bell,Pavel Dř evínek,Matthias Griese,Edward F. McKone,Claire E. Wainwright,Michael W. Konstan,Richard B. Moss,Felix Ratjen,Isabelle Sermet-Gaudelus,Steven M. Rowe,Qunming Dong,Sally Rodriguez,Karl Yen,Claudia L. Ordoñez,J. Stuart Elborn +18 more