Ivacaftor in a young boy with the rare gating mutation S549R--use of lung clearance index to track progress: a case report.

Background: Ivacaftor acts as a potentiator of the cystic fibrosis transmembrane conductance regulator (CFTR) and increases the transepithelial chloride transport of CFTR in 9 of 10 known gating mutations causing cystic fibrosis. S549R is a rare gating mutation considered to be less sensitive to potentiators than all other gating mutations.

Case Presentation: We report our first experience with ivacaftor in an 8-year-old boy with the rare S549R gating mutation.

Prevalence and characteristics of tracheal cobblestoning in children.

Background: Tracheal follicular pattern or so-called tracheal cobblestoning is a poorly described entity in the literature and is depicted as a nodular or lumpy appearance of the tracheal wall mucosa suggesting tracheal irritation from factors like gastro-esophageal reflux (GERD) or pulmonary infection. The aim of the present study was to investigate the prevalence and characteristics of tracheal cobblestones in a large pediatric population.

Methods: A large database of rigid tracheoscopies recorded in children (0-6 years of age) undergoing general anesthesia with planned tracheal intubation for elective surgical procedures was retrospectively analyzed.

Effect of mannitol dry powder challenge on exhaled nitric oxide in children.

Background: Fractional exhaled nitric oxide (FENO), a non-invasive marker of eosinophilic airway inflammation, is increasingly used for diagnostic and therapeutic decisions in adult and paediatric asthma. Standardized guidelines for the measurement of FENO recommend performing FENO measurements before rather than after bronchial provocation tests.

Objective: To investigate whether FENO levels decrease after a Mannitol dry powder (MDP) challenge in a clinical setting, and whether the extent of the decrease is influenced by number of MDP manoeuvres, baseline FENO, atopy and doctor diagnosed asthma.

Mannitol dry powder challenge in comparison with exercise testing in children.

Rationale: Mannitol dry powder (MDP) challenge is an indirect bronchial provocation test, which is well studied in adults but not established for children.

Objective: We compared feasibility, validity, and clinical significance of MDP challenge with exercise testing in children in a clinical setting.

Methods: Children aged 6-16 years, referred to two respiratory outpatient clinics for possible asthma diagnosis, underwent standardized exercise testing followed within a week by an MDP challenge (Aridol™, Pharmaxis, Australia).

Comparability of a hand-held nitric oxide analyser with online and offline chemiluminescence-based nitric oxide measurement.

Practicability is crucial for successful implementation of fractional exhaled nitric oxide (FeNO) measurement into asthma management. The study aimed at comparing a conventional chemiluminescence NO analyser (EcoMedics) with a hand-held device (NIOX MINO) and offline FeNO measurement using a commercially available system in an unselected cohort of children aged 6-16 yr. A secondary objective was to confirm FeNO stability over time in 15 samples from adult volunteers obtained using the offline system.

Neuropsychological, behavioral, and adaptive functioning of Swiss children with congenital central hypoventilation syndrome.

This study collected data about developmental problems in a cohort of children with congenital central hypoventilation syndrome. In 2003, in Switzerland, 11 children with this disease were registered. Nine of them gave their informed consent to participate in the study and were examined.

The value of exhaled nitric oxide in predicting bronchial hyperresponsiveness in children.

Reduced attention span and motor skills in children limit the practicability of bronchial provocation tests. To assess exhaled nitric oxide (FeNO) as a surrogate for bronchial hyperresponsiveness (BHR) in children with possible reactive airway disease, FeNO was measured using the single-breath method in 169 successive outpatients 11 +/- 5 years of age before lung function testing and subsequent bronchial provocation by exercise (n = 165) and methacholine (n = 134). Baseline forced expiratory volume in 1 second (FEV(1)) less than 80% of predicted and/or BHR were seen in 59%.

Postpericardiotomy syndrome after minimally invasive repair of pectus excavatum.

Minimally invasive repair of pectus excavatum (MIRPE) was first reported in 1998 and has gained wide acceptance since then. A 17-year-old girl who had undergone thoracotomy and cardiac surgery for transposition of great vessels at the age of 18 months presented with a deep, long pectus excavatum with asymmetry. After initial uneventful postoperative clinical course after MIRPE, the patient had bilateral pleural and pericardial effusion on the sixth postoperative day.