Félix Ratjen
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View article: GWAS SVatalog: a visualization tool to aid fine-mapping of GWAS loci with structural variations
GWAS SVatalog: a visualization tool to aid fine-mapping of GWAS loci with structural variations Open
Genome-wide association studies (GWAS) have been successful in identifying single nucleotide polymorphisms (SNPs) associated with phenotypic traits. However, SNPs form an incomplete set of variation across the genome and since a large perc…
View article: Utility of Hyperpolarized 129-Xenon MRI in Primary Ciliary Dyskinesia
Utility of Hyperpolarized 129-Xenon MRI in Primary Ciliary Dyskinesia Open
Background Managing patients with primary ciliary dyskinesia(PCD) is challenging due to limited therapeutic options and lack of sensitive, disease-specific outcome measures. Hyperpolarized 129-xenon MRI(XeMRI) is an emerging imaging modali…
View article: GWAS SVatalog: a visualization tool to aid fine-mapping of GWAS loci with structural variations
GWAS SVatalog: a visualization tool to aid fine-mapping of GWAS loci with structural variations Open
Background: Genome-wide association studies (GWAS) have been successful in identifying single nucleotide polymorphisms (SNPs) associated with phenotypic traits. However, SNPs form an incomplete set of variation across the genome and since …
View article: Biomarkers associated with clinical response to cystic fibrosis pulmonary exacerbation treatment and adjuvant prednisone therapy
Biomarkers associated with clinical response to cystic fibrosis pulmonary exacerbation treatment and adjuvant prednisone therapy Open
Sputum and blood inflammatory markers are associated with early response to IV antibiotics and change with prednisone treatment during PEx.
View article: Repeatability of Multiple Breath Washout in Pediatric Primary Ciliary Dyskinesia
Repeatability of Multiple Breath Washout in Pediatric Primary Ciliary Dyskinesia Open
Background Primary ciliary dyskinesia (PCD) is a motile ciliopathy characterized by abnormal mucociliary clearance and progressive lung disease. Spirometry is commonly used to monitor lung health and response to treatment, but it is known …
View article: Feasibility and Utility of Multiple Breath Washout Measured Scond and Sacin in Preschool Children With Cystic Fibrosis
Feasibility and Utility of Multiple Breath Washout Measured Scond and Sacin in Preschool Children With Cystic Fibrosis Open
Background The lung clearance index (LCI) is a sensitive measure of global ventilation inhomogeneity but does not describe the gas mixing mechanisms that lead to inhomogeneity. Multiple breath washout normalized phase III slope (SnIII) met…
View article: Antibiotic treatment for non-tuberculous mycobacteria lung infection in people with cystic fibrosis
Antibiotic treatment for non-tuberculous mycobacteria lung infection in people with cystic fibrosis Open
The protocol for this updated version of the review was registered at PROSPERO in November 2023.
View article: Application of the defect distribution index to functional lung MRI of pediatric cystic fibrosis lung disease and controls
Application of the defect distribution index to functional lung MRI of pediatric cystic fibrosis lung disease and controls Open
The DDI is applicable to functional 129Xe-MRI and PREFUL-MRI data providing complementary information to VDP by assessing defect distribution rather than defect size. It shows meaningful clinimetric properties and improves with treatment. …
View article: Brain and lung arteriovenous malformation rescreening practices for children and adults with hereditary hemorrhagic telangiectasia
Brain and lung arteriovenous malformation rescreening practices for children and adults with hereditary hemorrhagic telangiectasia Open
Background Patients with hereditary hemorrhagic telangiectasia (HHT) are at risk for organ vascular malformations including arteriovenous malformations (AVMs) in the brain and lungs. North American HHT Centers of Excellence (CoEs) routinel…
View article: Pulmonary arteriovenous malformation in children
Pulmonary arteriovenous malformation in children Open
Pulmonary arteriovenous malformations (PAVMs) are rare abnormalities observed mainly in children with hereditary haemorrhagic telangiectasia (HHT). A majority of patients are asymptomatic at the time of detection. However, complications su…
View article: Comparison of 3D UTE free‐breathing lung MRI with hyperpolarized <sup>129</sup>Xe MRI in pediatric cystic fibrosis
Comparison of 3D UTE free‐breathing lung MRI with hyperpolarized <sup>129</sup>Xe MRI in pediatric cystic fibrosis Open
Purpose To compare phase‐resolved functional lung (PREFUL) regional ventilation derived from a free breathing 3D UTE radial MRI acquisition to hyperpolarized 129 Xe‐MRI (Xe‐MRI), conventional 2D multi‐slice PREFUL MRI, and pulmonary functi…
View article: Same‐Day Repeatability and 28‐Day Reproducibility of Xenon <scp>MRI</scp> Ventilation in Children With Cystic Fibrosis in a Multi‐Site Trial
Same‐Day Repeatability and 28‐Day Reproducibility of Xenon <span>MRI</span> Ventilation in Children With Cystic Fibrosis in a Multi‐Site Trial Open
Background MRI with xenon‐129 gas (Xe MRI) can assess airflow obstruction and heterogeneity in lung diseases. Specifically, Xe MRI may represent a sensitive modality for future therapeutic trials of cystic fibrosis (CF) therapies. The repr…
View article: Extracellular vesicles in sputum of children with cystic fibrosis pulmonary exacerbations
Extracellular vesicles in sputum of children with cystic fibrosis pulmonary exacerbations Open
Background The aim of this study was to quantify mediators of neutrophilic inflammation within airway extracellular vesicles (EVs) of children treated for a cystic fibrosis (CF) pulmonary exacerbation (PEx). Methods EVs were isolated from …
View article: Single-cell RNA-Sequencing Co-Expression Analysis with CFTR in Lung Tissue
Single-cell RNA-Sequencing Co-Expression Analysis with CFTR in Lung Tissue Open
1 Abstract Background 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 o…
View article: Exhaled Breath Analysis Detects the Clearance of Staphylococcus aureus from the Airways of Children with Cystic Fibrosis
Exhaled Breath Analysis Detects the Clearance of Staphylococcus aureus from the Airways of Children with Cystic Fibrosis Open
Background: Electronic nose (eNose) technology can be used to characterize volatile organic compound (VOC) mixes in breath. While previous reports have shown that eNose can detect lung infections with pathogens such as Staphylococcus aureu…
View article: Standards for the care of people with cystic fibrosis (CF); recognising and addressing CF health issues
Standards for the care of people with cystic fibrosis (CF); recognising and addressing CF health issues Open
This is the third in a series of four papers updating the European Cystic Fibrosis Society (ECFS) standards for the care of people with CF. This paper focuses on recognising and addressing CF health issues. The guidance was produced with w…
View article: Reply to Eker et al. Comment on “Kilian et al. Comparing Characteristics and Treatment of Brain Vascular Malformations in Children and Adults with HHT. J. Clin. Med. 2023, 12, 2704”
Reply to Eker et al. Comment on “Kilian et al. Comparing Characteristics and Treatment of Brain Vascular Malformations in Children and Adults with HHT. J. Clin. Med. 2023, 12, 2704” Open
We are grateful to Eker et al. for their thoughtful analysis and response to our publication titled Comparing Characteristics and Treatment of Brain Vascular Malformations in Children and Adults with HHT [...]
View article: Early human fetal lung atlas reveals the temporal dynamics of epithelial cell plasticity
Early human fetal lung atlas reveals the temporal dynamics of epithelial cell plasticity Open
While animal models have provided key insights into conserved mechanisms of how the lung forms during development, human-specific developmental mechanisms are not always captured. To fully appreciate how developmental defects and disease s…
View article: Bronchodilator responsiveness in children with primary ciliary dyskinesia
Bronchodilator responsiveness in children with primary ciliary dyskinesia Open
Background Reversible airway obstruction is common in children with primary ciliary dyskinesia. However, the diagnostic value of adding bronchodilator (BD) response testing to routine spirometry is unclear. Methods This is a retrospective …
View article: Early human fetal lung atlas reveals the temporal dynamics of epithelial cell plasticity
Early human fetal lung atlas reveals the temporal dynamics of epithelial cell plasticity Open
While animal models have provided key insights into conserved mechanisms of how the lung forms during development, human-specific developmental mechanisms are not always captured. To fully appreciate how developmental defects and disease s…
View article: Cardiopulmonary Exercise Testing Provides Prognostic Information in Advanced Cystic Fibrosis Lung Disease
Cardiopulmonary Exercise Testing Provides Prognostic Information in Advanced Cystic Fibrosis Lung Disease Open
Rationale: Cardiopulmonary exercise testing (CPET) provides prognostic information in cystic fibrosis (CF); however, its prognostic value for patients with advanced CF lung disease is unknown. Objectives: To determine the prognostic value …