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Functional skills in MECP2 duplication syndrome: developmental dynamics and regression

MECP2 duplication syndrome (MDS) is an ultrarare, X-linked neurodevelopmental disorder that is poorly understood in terms of its natural history and phenotypic variability. There is limited information on how individuals with MDS acquire, retain or lose fundamental functional skills (gross motor, purposeful hand function and communication) - that of which this study aimed to better characterise in the largest case series to date.

Trajectories of prematurity-associated lung disease: lifelong lung health

Preterm birth is increasingly recognised as adversely influencing lifelong lung function. This Series paper on prematurity-associated lung disease reviews studies reporting longitudinal lung function measurements in individuals who were born preterm. Evidence suggests that preterm birth alters lung function trajectories from early life onwards, with implications for future respiratory morbidity. We propose that this population needs rigorous follow up that should include systematic monitoring of lung function across the lifespan, starting in childhood.

Researchers sound the alarm as vaping fad explodes

Research into the potential health impacts of vaping is starting to back up concerns that electronic cigarettes (e-cigarettes) are not as benign as many people think.

Arsenic and respiratory disease

Arsenic is the only environmental toxin that has been linked to both malignant and nonmalignant respiratory disease following ingestion, rather than inhalation, making arsenic a unique toxicant to the respiratory system. Chronic exposure to arsenic has been associated with the development of respiratory symptoms, impaired lung function, and chronic lung disease.

Prevalence of chronic respiratory diseases in Aboriginal children: A whole population study

The burden of bronchiectasis is disproportionately high in Aboriginal adults, with early mortality. Bronchiectasis precursors, that is, protracted bacterial bronchitis and chronic suppurative lung disease, often commence in early childhood.

Host-dependent resistance of Group A Streptococcus to sulfamethoxazole mediated by a horizontally-acquired reduced folate transporter

Described antimicrobial resistance mechanisms enable bacteria to avoid the direct effects of antibiotics and can be monitored by in vitro susceptibility testing and genetic methods. Here we describe a mechanism of sulfamethoxazole resistance that requires a host metabolite for activity.

Factors influencing participation in home, school, and community settings by children and adolescents with neuromuscular disorders: A qualitative descriptive study

This study explored how children and adolescents with a neuromuscular disorder (NMD) and their parents experienced barriers and enablers to the child's participation.

Monitoring disease progression in childhood bronchiectasis

Bronchiectasis (not related to cystic fibrosis) is a chronic lung disease caused by a range of etiologies but characterized by abnormal airway dilatation, recurrent respiratory symptoms, impaired quality of life and reduced life expectancy.

Normative data for multiple breath washout outcomes in school-aged Caucasian children

The multiple breath nitrogen washout (N2MBW) technique is increasingly used to assess the degree of ventilation inhomogeneity in school-aged children with lung disease. However, reference values for healthy children are currently not available.

Development of a Symptom-Based Tool for Screening of Children at High Risk of Preschool Asthma

Despite advances in asthma therapeutics, the burden remains highest in preschool children; therefore, it is critical to identify primary care tools that distinguish preschool children at high risk for burdensome disease for further evaluation.