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.

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.

Impact of SARS-CoV-2 infection in patients with cystic fibrosis in Spain: Incidence and results of the national CF-COVID19-Spain survey.

Background: Given the high incidence of confirmed infection by SARS-CoV-2 and mortality by COVID-19 in the Spanish population, its impact was analysed among persons with Cystic Fibrosis (CF) as a group at risk of a worse evolution. The possible causes of the incidence observed in them are explained and how CF Units have faced this health challenge is detailed.

Methods: Retrospective descriptive observational study, for which a Spanish CF Patients with Confirmed COVID-19 Registry is created, requesting information on number of people affected between 8 March-16 May 2020 and their clinical-demographic characteristics from the CF Units participating in the European Cystic Fibrosis Society Patient Registry (ECFSPR).

[Tolerance of two inhaled hypertonic saline solutions in patients with cystic fibrosis].

Background And Objective: The aim of our study was to evaluate the tolerance of two inhaled hypertonic saline solutions (HS) in patients with cystic fibrosis.

Patients And Method: Eighty one cystic fibrosis (CF) patients (44 males; mean age 23.63 years) inhaled 5 ml of 7% inhaled HS solution and, in those patients who did not tolerate HS, we evaluated the tolerance of a 7% HS (at dose of 5 ml) added to 0.