Correction of CFTR function in intestinal organoids to guide treatment of cystic fibrosis.

Rationale: Given the vast number of cystic fibrosis transmembrane conductance regulator () mutations, biomarkers predicting benefit from CFTR modulator therapies are needed for subjects with cystic fibrosis (CF).

Objectives: To study CFTR function in organoids of subjects with common and rare mutations and evaluate correlations between CFTR function and clinical data.

Methods: Intestinal organoids were grown from rectal biopsies in a cohort of 97 subjects with CF.

Are airways structural abnormalities more frequent in children with recurrent lower respiratory tract infections?

Unlabelled: We report bronchoscopic changes observed in children with recurrent lower airways infections (RLAI) and findings in control children undergoing bronchoscopy for causes other than RLAI.

Patients And Methods: Retrospective case-control cohorts study. The clinical records of children who had fiberoptic bronchoscopy (FB) for a history of RLAI without any known underlying disorder between 2007 and 2013 and of control children who required FB for other causes were reviewed.

Hereditary pulmonary alveolar proteinosis. Could it be triggered by Mycoplasma pneumoniae pneumonia?

We present a three-year-old girl with respiratory failure due to hereditary pulmonary alveolar proteinosis caused by abnormal alpha chain of the granulocyte-macrophage colony-stimulating factor receptor. Both the patient and an asymptomatic seven-year-old sister were homozygous for the same mutation in CSF2RA. We speculate that the Mycoplasma pneumoniae pneumonia might have triggered the clinical presentation.

Assessment and management of infants with apparent life-threatening events in the paediatric emergency department.

Objective: To report our experience with a guideline approach for the assessment of apparent life-threatening events (ALTE) at our paediatric emergency department (PED).

Methods: Prospective observational case series study of a guideline approach for infants under the age of 12 months who suffered an ALTE between 1 April 2005 and 31 June 2006.

Results: A total of 66 infants with ALTE were included.