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Development of an International Database for a Rare Genetic Disorder: The MECP2 Duplication Database (MDBase)

The natural history of MECP2 duplication syndrome (MDS), a rare X-linked neurodevelopmental disorder with an estimated birth prevalence of 1/150,000 live births, is poorly understood due to a lack of clinical data collected for research. Such information is critical to the understanding of disease progression, therapeutic endpoints and outcome measures for clinical trials, as well as the development of therapies and orphan products.

Expiratory flow limitation and breathing strategies in overweight adolescents during submaximal exercise

Young people who are overweight/obese are more likely to display expFL during submaximal exercise compared with children of healthy weight.

Survey of clinical infant lung function testing practices

To evaluate current ILF testing practices and to survey users regarding the indications, limitations and perceived clinical benefits of ILF testing.

Consensus statement for inert gas washout measurement using multiple- and single- breath tests

Inert gas washout tests, performed using the single- or multiple-breath washout technique, were first described over 60 years ago.

Characterization of maximal respiratory pressures in healthy children

Measurements of maximal voluntary inspiratory (Pi max) and expiratory (Pe max) pressures are used in the management of respiratory muscle disease...

Pulmonary diffusing capacity in healthy Caucasian children

Previous studies of pulmonary diffusing capacity in children differed greatly in methodologies; numbers of subjects evaluated, and were performed prior to...

Clinical investigation of respiratory system admittance in preschool children

We compared the ability of Ars, to standard oscillatory outcomes, to determine respiratory disease and differentiate responses to inhaled bronchial challenges.

Air trapping in early cystic fibrosis lung disease-Does CT tell the full story?

Mosaic attenuation on expiratory chest computed tomography (CT) is common in early life cystic fibrosis (CF) and often referred to as "air trapping"

Official ERS technical standards: Global Lung Function Initiative reference values for the carbon monoxide transfer factor for Caucasians

This is the largest collection of normative T LCO data, and the first global reference values available for T LCO.

Multiple-breath washout outcomes are sensitive to inflammation and infection in children with cystic fibrosis

The lung clearance index may be a useful surveillance tool for monitoring the presence and extent of lower airway inflammation and infection