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Experience of gastrostomy using a quality care framework: The example of Rett syndrome

We investigated our data from family questionnaires to see how feeding difficulties related to age, the type of MECP2 mutation, and the use of gastrostomy.

Level of purposeful hand function as a marker of clinical severity in Rett syndrome

We developed a measure of hand function, and then investigated relationships between hand function, type of MECP2 mutation, age and severity of symptoms.

Parental experiences of scoliosis management

We investigated what parents thought about the ways to manage scoliosis and what they thought they needed to help them better manage their daughter's scoliosis.

Research

Parental perspectives on the communication abilities of their daughters with Rett syndrome

How females with Rett syndrome communicate in everyday life and the barriers and facilitators to successful communication

Research

A Retrospective case-series of children with bone and joint infection from northern Australia

We report osteomyelitis incidence in indigenous children of northern Australia is amongst the highest reported in the world

Research

Systematic review and meta-analysis of respiratory viral coinfections in children

Coinfection is not associated with increased clinical severity, but further investigations by pathogen pairs are warranted

Research

Screening for rheumatic heart disease: Quality and agreement of focused cardiac ultrasound by briefly trained health workers

After brief training, health workers with no prior experience in echocardiography can obtain adequate quality images and make a reliable assessment

Research

A Method to Exploit the Structure of Genetic Ancestry Space to Enhance Case-Control Studies

These results highlight how UNICORN can enable reliable, powerful, and convenient genetic association analyses without access to the individual-level data

Research

25-hydroxyvitamin D status of pregnant women is associated with the use of antenatal vitamin supplements and ambient ultraviolet radiation

Vitamin D deficiency in a predominantly white Caucasian cohort of pregnant women is less prevalent than has been reported in other studies

Research

Alpha-1 antitrypsin mitigates the inhibition of airway epithelial cell repair by neutrophil elastase

Free NE activity is deleterious for epithelial homeostasis and support the hypothesis that proteases in the airway contribute to CF structural lung disease