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Research

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.

Research

Addressing Race in Pulmonary Function Testing by Aligning Intent and Evidence With Practice and Perception

The practice of using race or ethnicity in medicine to explain differences between individuals is being called into question because it may contribute to biased medical care and research that perpetuates health disparities and structural racism.

Research

Parent Carer Quality of Life and Night-Time Attendance in Non-Ambulant Youth with Neuromuscular Disorders

To describe and explore carer quality of life and night-time attendance to their child in parents of non-ambulant youth with Neuromuscular Disorders. A cross-sectional population-based, comprehensive survey including the Adult Carer questionnaire, measures of social context and youths' physical status. Associations between carer-QoL or frequency of parents' night-time attendance with independent variables were explored using linear and logistic regression models, respectively.

Research

Long-term medical and psychosocial outcomes in congenital diaphragmatic hernia survivors

Survivors of CDH may have significant adverse long-term medical and psychosocial issues that would be better recognised and managed in a multidisciplinary clinic

Research

Early lung surveillance of cystic fibrosis: what have we learnt?

Newborn screening (NBS) for cystic fibrosis (CF) provides an opportunity to commence management and therapeutic interventions significantly earlier

Research

How ‘healthy’ do children really need to be? Going beyond the limits

The authors assessed the impact of including preschool‐aged children with a history of preterm birth, early life wheeze, asthma diagnoses and/or recent respiratory symptoms in healthy reference ranges for respiratory impedance using the forced oscillation technique (FOT).

Research

Cuffed vs. uncuffed tracheal tubes in children: A randomised controlled trial comparing leak, tidal volume and complications

Our study compared tidal volume and leakage around cuffed and uncuffed tracheal tubes in children who required standardised mechanical ventilation of the lungs.

Research

Effect of posture on lung ventilation distribution and associations with structure in children with cystic fibrosis

Background: We assessed the effect of posture on ventilation distribution and the impact on associations with structural lung disease.