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Cystic Fibrosis
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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
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Evidence-Based Practice Recommendations for Nutrition-Related Management of Children and Adults with Cystic Fibrosis and Pancreatic Insufficiency: Results of a Systematic Review
TL;DR: The Subcommittee on Growth and Nutrition reviewed the evidence in two areas: energy intake and dosing for pancreatic enzyme replacement therapy and ad hoc working group conducted a review of the literature and performed new analyses using the Cystic Fibrosis Foundation Patient Registry to update the recommendations for growth and weight-status monitoring.
Journal ArticleDOI
Long-term expanding human airway organoids for disease modeling
Norman Sachs,Angelos Papaspyropoulos,Domenique D. Zomer-van Ommen,Inha Heo,Lena Böttinger,Dymph Klay,Fleur Weeber,Guizela Huelsz-Prince,Nino Iakobachvili,Gimano D. Amatngalim,Joep de Ligt,Arne Van Hoeck,Natalie Proost,Marco C. Viveen,Anna Lyubimova,Luc Teeven,Sepideh Derakhshan,Jeroen Korving,Harry Begthel,Johanna F. Dekkers,Kuldeep Kumawat,Emilio Ramos,Matthijs F.M. van Oosterhout,G. Johan A. Offerhaus,Dominique J Wiener,Eduardo P. Olimpio,Krijn K. Dijkstra,Egbert F. Smit,Maarten van der Linden,Sridevi Jaksani,Marieke van de Ven,Jos Jonkers,Anne C. Rios,Emile E. Voest,Coline H.M. van Moorsel,Cornelis K. van der Ent,Edwin Cuppen,Alexander van Oudenaarden,Frank E. J. Coenjaerts,Linde Meyaard,Louis Bont,Peter J. Peters,Sander J. Tans,Jeroen S. van Zon,Sylvia F. Boj,Robert G.J. Vries,Jeffrey M. Beekman,Hans Clevers +47 more
TL;DR: It is concluded that human airway organoids represent versatile models for the in vitro study of hereditary, malignant, and infectious pulmonary disease.
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Polymicrobial Interactions: Impact on Pathogenesis and Human Disease
TL;DR: A review of polymicrobial biofilm-mediated infections examines the contribution of bacterial-bacterial, bacterial-fungal, and bacterial-viral interactions during human infection and potential strategies for protection against such diseases.
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Origins of Cystic Fibrosis Lung Disease
TL;DR: Mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator undermine many host defense systems by inhibiting the function of airway-surface liquid, causing flaws in mucociliary transport, and compromising other lung-protection mechanisms.
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Advances in Biomaterials for Drug Delivery.
TL;DR: Advances in biomaterials for drug delivery are enabling significant progress in biology and medicine, including major breakthroughs in materials for cancer immunotherapy, autoimmune diseases, and genome editing.
References
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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