Molecular diagnosis of cystic fibrosis by RNA obtained from nasal epithelial cells.

Background: The diagnosis of cystic fibrosis (CF) is established when characteristic clinical signs are coupled with biallelic CFTR pathogenic variants. No previously reported non-canonical splice site variants have to be considered as variants of uncertain significance unless their effect on splicing has been validated.

Methods: Two variants identified by next-generation sequencing were evaluated.

SARS-CoV-2 infection in children with cystic fibrosis: A cross-sectional multicenter study in Spain. New waves, new knowledge.

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.

Uncommon Cause of Hemoptysis in a 15-Year-Old Boy.

A 15-year-old boy presented with three acute episodes of self-limited hemoptysis. He was being followed by the pediatric pulmonology department for necrotizing pneumonia and a right upper lobe lung abscess with residual pneumatocele 5 years earlier. He had also experienced recurrent perianal abscesses and more than 15 acute suppurative otitis media throughout his life, even after myringotomy and transtympanic drainage; methicillin-sensitive Staphyloccocus aureus was found in a culture of otic exudate.

Ethmoidal mucocele causing proptosis in a pediatric patient with cystic fibrosis: A case report.

In cystic fibrosis (CF) patients, Ear Nose Throat (ENT) pathology is often undiagnosed despite its high prevalence and its possible life-threatening complications. We present the case of an ethmoidal mucocele leading to ocular manifestations in a 2-year-old girl with cystic fibrosis with no previous serious complications. She progressively developed non-axial proptosis, limitation of the adduction and exotropia of her left eye.