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A brief history of MECP2 duplication syndrome: 20-years of clinical understanding

MECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder caused by a duplication of the methyl-CpG-binding protein 2 (MECP2) gene-a gene in which loss-of-function mutations lead to Rett syndrome (RTT). MDS has an estimated live birth prevalence in males of 1/150,000.

Geographical Differences and Temporal Improvements in Forced Expiratory Volume in 1 Second of Preterm-Born Children: A Systematic Review and Meta-analysis

Although preterm birth is associated with later deficits in lung function, there is a paucity of information on geographical differences and whether improvements occur over time, especially after surfactant was introduced.

Normative multiple-breath washout data in school-aged children corrected for sensor error

Graham Kathryn Rachel Alana Hall Ramsey Foong Harper BAppSci PhD CRFS FANZSRS FThorSoc FERS BSc (Hons), PhD BSc (hons), PhD, MBiostat BSc (hons)

Treatment for Childhood and Adolescent Dissociation: A Systematic Review

Dissociative symptoms are linked to experiences of trauma, often originating in childhood and adolescence. Dissociative disorders are associated with a high burden of illness and a poor quality of life. Despite evidence suggesting that early intervention can improve outcomes, little research exists on the treatment of dissociative disorders in childhood and adolescence.

Testing your lungs: Spirometry

Healthy lungs help you to breathe better. This means you can sleep better, as well as play sports, run and walk without being short winded.

The next generation of impact in cystic fibrosis

Lung damage in children with CF occurs much earlier than previously thought, and proving this is related to the decline that occurs later will create new paradigms for prevention and treatment.

Changes in lung volume during spells in children with Tetralogy of Fallot under general anesthesia

To describe the changes in end-expiratory lung volume and ventilation inhomogeneities during spells in three children with Tetralogy of Fallot.

Commentaries on Viewpoint: Standards for quantitative assessment of lung structure.

Commentaries on Viewpoint: Standards for quantitative assessment of lung structure. Instillation fixation and overinflation of the mouse lun

Expression of bronchodilator response using forced oscillation technique measurements: absolute versus relative

Expression of bronchodilator response using forced oscillation technique measurements: absolute versus relative

Lung function testing in preschool-aged children with cystic fibrosis in the clinical setting

This study investigated the nature and prevalence of atypical pain responses in Rett syndrome and their relationships with specific MECP2 mutations.