Publications by authors named "Maria Cols Roig"
Introduction: The association between viral infections and pulmonary exacerbations in children with cystic fibrosis (cwCF) is well established. However, the question of whether cwCF are at a higher risk of COVID-19 or its adverse consequences remains controversial.
Methods: We conducted an observational, multicenter, cross-sectional study of cwCF infected by severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) between March 2020 and June 2022, (first to sixth COVID-19 pandemic waves) in Spain.
The Catalonian Newborn Screening Program (CNSP) began in 1969, in Barcelona. It was promoted by Dr. Juan Sabater Tobella and supported by Barcelona Provincial Council and Juan March Foundation.
View Article and Find Full Text PDFImplementation of a Gene Panel for Genetic Diagnosis of Primary Ciliary Dyskinesia.
Arch Bronconeumol (Engl Ed)
March 2021
Article Synopsis
- Primary ciliary dyskinesia (PCD) results from ciliary structure issues, making it hard to clear respiratory secretions; diagnosing PCD involves multiple techniques and is complex.
- This study developed a gene panel for sequencing 44 genes linked to PCD and involved 79 patients suspected of having the condition, according to European Respiratory Society criteria.
- The gene panel showed an 81.1% sensitivity and 100% specificity, identifying 52 genetic variants in patients, including previously unreported ones, which enhances understanding of PCD’s genetic causes and informs potential therapies.