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Showing results for "Professor"

The SunPreg Study

Determining the associations of sun exposure in early life on the development of non-communicable diseases.

News & Events

Montanna's diabetes dash

A diabetes diagnosis is a shock at any time but spare a thought for the Rustens who jumped on a plane to Perth from Kununurra within an hour of diagnosis.

Research

An integrative analysis of non-coding regulatory DNA variations associated with autism spectrum disorder

Overall, we found that the regulatory variants in autism spectrum disorder cases were enriched in ASD-risk genes and genes involved in fetal neurodevelopment

Standing up to a cruel DISEASE

Klair Bayley knew her son Logan would eventually need a wheelchair.

Research

A GWAS for grip strength in cohorts of children-Advantages of analysing young participants for this trait

Grip strength is a proxy measure for muscular strength and a predictor for bone fracture risk among other diseases. Previous genome-wide association studies have been conducted in large cohorts of adults focusing on scores collected for the dominant hand, therefore increasing the likelihood of confounding effects by environmental factors.

Research

Identifying SETBP1 haploinsufficiency molecular pathways to improve patient diagnosis using induced pluripotent stem cells and neural disease modelling

SETBP1 Haploinsufficiency Disorder (SETBD) is characterised by mild to moderate intellectual disability, speech and language impairment, mild motor developmental delay, behavioural issues, hypotonia, mild facial dysmorphisms, and vision impairment. Despite a clear link between SETBP1 mutations and neurodevelopmental disorders the precise role of SETBP1 in neural development remains elusive.

Research

The use of tranexamic acid in paediatric adenotonsillectomy – A systematic review and meta-analysis

Tonsillectomy and adenoidectomy are two of the most commonly performed ENT procedures in children, with over 500,000 cases performed annually in the United States. Whilst generally considered a safe and well-tolerated operation, it is not without its risks and complications including pain, nausea, anorexia and most importantly bleeding and post-tonsillectomy haemorrhage.

Research

Interferon β-1a ring prophylaxis to reduce household transmission of SARS-CoV-2: a cluster randomised clinical trial

Accumulating evidence indicates that an early, robust type 1 interferon (IFN) response to SARS-CoV-2 is important in determining COVID-19 outcomes, with an inadequate IFN response associated with disease severity. Our objective was to examine the prophylactic potential of IFN administration to limit viral transmission.

Research

Remote paediatric ear examination comparing video-otoscopy and still otoscopy clinician rated outcomes

Telemedicine, particularly real time video-otoscopy in rural and remote Australia holds great potential in assessing and managing otology conditions. There is good evidence of store and forward images for assessment, however limited evidence exists for the use of real-time video-otoscopy. The objective of this study was to assess the validity of using real time video-otoscopy, compared to standard store and forward still image otoscopy, in a paediatric population.

Research

Investigating Parental Observations of Early Autism Development in Simplex and Multiplex Families

Past research has highlighted the importance of early identification of developmental differences to improve targeted access to early interventions or supports. As such, it is of particular importance in the context of children at elevated likelihood of autism (such as where an older sibling has a diagnosis of autism), to better understand when and which early concerns are important as predictors of which children will benefit from pre-diagnostic supports.