Using chest computed tomography and unsupervised machine learning for predicting and evaluating response to lumacaftor-ivacaftor in people with cystic fibrosis.

Objectives: Lumacaftor-ivacaftor is a cystic fibrosis transmembrane conductance regulator (CFTR) modulator known to improve clinical status in people with cystic fibrosis (CF). The aim of this study was to assess lung structural changes after 1 year of lumacaftor-ivacaftor treatment and to use unsupervised machine learning to identify morphological phenotypes of lung disease that are associated with response to lumacaftor-ivacaftor.

Methods: Adolescents and adults with CF from a French multicentre real-world prospective observational study evaluating the first year of treatment with lumacaftor-ivacaftor were included if they had pre-therapeutic and follow-up chest computed tomography (CT) scans available.

New insights into pediatric idiopathic pulmonary hemosiderosis: the French RespiRare(®) cohort.

Background: Idiopathic pulmonary hemosiderosis (IPH) is a rare cause of alveolar hemorrhage in children and its pathophysiology remains obscure. Classically, diagnosis is based on a triad including hemoptysis, diffuse parenchymal infiltrates on chest X-rays, and iron-deficiency anemia. We present the French pediatric cohort of IPH collected through the French Reference Center for Rare Lung Diseases (RespiRare®, http://www.

Add-on omalizumab in children with severe allergic asthma: a 1-year real life survey.

Omalizumab has been shown to reduce exacerbation rates in moderate to severe allergic asthma. Our aim was to evaluate omalizumab efficacy and safety in a real-life setting in severe asthmatic children. 104 children (aged 6-18 years), followed up in paediatric pulmonary tertiary care centres, were included at the beginning of omalizumab treatment.

Characteristics of disorders associated with genetic mutations of surfactant protein C.

Study Objectives: To present diagnosis and treatment modalities of children with interstitial lung disease associated with frequent or rare surfactant protein C gene (SFTPC) mutation.

Patients: Twenty-two children with chronic lung disease associated with SFTPC mutation in a heterozygous form.

Results: Mutations located in the BRICHOS domain ('BRICHOS domain' group) were identified in six children, whereas 16 children carried mutations located outside the BRICHOS domain ('non-BRICHOS domain' group).

Hallerman-Streiff-like syndrome presenting with laterality and cardiac defects.

We report two patients considered to have an atypical presentation of Hallerman-Streiff syndrome (HSS) associated with laterality and cardiac defects. Clinical features include typical facial gestalt, atrophy of the skin, and hypotrichosis. Ophthalmologic abnormalities, normally present in HSS, are only found in one of the two patients.