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May 17, 2024 | 
biorxiv.org | Cheng Wang |Kayshani R Kanagarajah |Amy Wong |Felix Ratjen
AbstractBackground: While cystic fibrosis is caused by loss-of-function variants in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR), other modifier genes have been shown to associate with disease severity. Co-expression of modifiers with CFTR in normal tissue indicates a cooperative relationship and suggests the potential for compensation in the presence of CFTR dysfunction.
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Feb 14, 2024 | 
mdpi.com | Elias Seidl |Rianne de Vries |Felix Ratjen |Johann-Christoph Licht
All articles published by MDPI are made immediately available worldwide under an open access license. No specialpermission is required to reuse all or part of the article published by MDPI, including figures and tables. Forarticles published under an open access Creative Common CC BY license, any part of the article may be reused withoutpermission provided that the original article is clearly cited. For more information, please refer tohttps://www.mdpi.com/openaccess.
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Jan 1, 2024 | 
openres.ersjournals.com | Elias Seidl |David Wilson |Felix Ratjen
IntroductionPrimary ciliary dyskinesia (PCD) is a rare, mainly autosomal recessive inherited, multi-organ disease that is characterised by dysfunctional motile cilia. In the respiratory tract, PCD causes impaired mucociliary clearance, neonatal respiratory distress, chronic nasal congestion, sinusitis and chronic wet cough [1–3]. Recurrent airway infections and inflammation are common, leading to bronchiectasis and irreversible lung damage [2, 4].
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Dec 1, 2023 | 
mdpi.com | Alexandra Kilian |Giuseppe A. Latino |Andrew White |Felix Ratjen
All articles published by MDPI are made immediately available worldwide under an open access license. No specialpermission is required to reuse all or part of the article published by MDPI, including figures and tables. Forarticles published under an open access Creative Common CC BY license, any part of the article may be reused withoutpermission provided that the original article is clearly cited. For more information, please refer tohttps://www.mdpi.com/openaccess.
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Nov 1, 2023 | 
nejm.org | Felix Ratjen |Darren B. Taichman
November 2, 2023N Engl J Med 2023; 389:1693-1707 DOI: 10.1056/NEJMra2216474Darren B. Taichman, M.D., Ph.D., Editor This article reviews the pathophysiology, evaluation, and treatment of cystic fibrosis, including recent advances with the use of highly effective modulator therapy. Funding and Disclosures Disclosure forms provided by the authors are available with the full text of this article at NEJM.org.
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Oct 19, 2023 | 
erj.ersjournals.com | Christine Bear |Felix Ratjen
AcknowledgementsThe authors acknowledge assistance in proofreading from Tarini Gunawardena, Project Manager for CFIT (The Programme for Individualized Cystic Fibrosis Therapy, SickKids Hospital and Cystic Fibrosis Canada). FootnotesConflict of interest: F. Ratjen acts as a consultant for Vertex Pharmaceuticals. C. Bear has no potential conflicts of interest to disclose. Received August 17, 2023. Accepted August 21, 2023.
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Sep 9, 2023 | 01727-0/abstract&sz=64)
thelancet.com | Lucy M. Perrem |Felix Ratjen
Cystic fibrosis is an autosomal recessive disorder caused by pathogenic variants of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The disease is thought to affect every organ system, with prominent pathology in the respiratory, gastrointestinal, endocrine, and reproductive systems.
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Apr 14, 2023 | 
tandfonline.com | Lucy Mary Perrem |Isaac Martin |Felix Ratjen
ABSTRACTIntroduction Pulmonary exacerbations are common events in children with cystic fibrosis (CF) and are usually treated with oral antibiotics on an outpatient basis. Even these mild clinical events are clinically meaningful and contribute to the progression of lung disease. Areas covered This review discusses the challenges in diagnosing pulmonary exacerbations in children in the absence of a standardized definition.
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Apr 4, 2023 | 
mdpi.com | Alexandra Kilian |Giuseppe A. Latino |Andrew White |Felix Ratjen
Abstract:Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant disease characterized by the development of vascular malformations (VMs) in organs such as the brain and lungs, as well as telangiectases on mucosal surfaces. Prophylactic treatment of organ VMs may prevent potential complications, such as hemorrhage. However, brain VM treatment—surgical resection, embolization, and/or radiosurgery—is not recommended for all patients due to the associated risks.
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Feb 23, 2023 | 00001-2/abstract&sz=64)
thelancet.com | Lucy M. Perrem |Felix Ratjen
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