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Research

An evaluation of GPT models for phenotype concept recognition

Clinical deep phenotyping and phenotype annotation play a critical role in both the diagnosis of patients with rare disorders as well as in building computationally-tractable knowledge in the rare disorders field.

Research

A very low carbohydrate diet for minimising blood glucose excursions during ultra-endurance open-water swimming in type 1 diabetes: a case report

Carbohydrate-restricted diets are used by people with type 1 diabetes (T1D) to help manage their condition. However, the impact of this strategy on blood glucose responses to exercise is unknown. This study describes the nutritional strategies of an athlete with T1D, who follows a very low carbohydrate diet to manage her condition during an ultra-endurance open-water swimming event. 

Research

Epidemiology and assessment of Hepatitis B positive children in Western Australia

To describe the characteristics of patients with chronic hepatitis B (CHB) presenting to a tertiary paediatric hospital in Perth, Western Australia. Review of implementation of previous follow-up recommendations for the cohort was also undertaken. 

Research

Kaat koort: Study protocol for a pragmatic randomized controlled trial of a multifactorial, multidisciplinary Aboriginal Health Practitioner-led Aboriginal dementia prevention intervention

Limited available data indicate that dementia prevalence rates among Aboriginal and Torres Strait Islander (hereafter Aboriginal) peoples are 3–5 times higher than the overall Australian population. Effective, pragmatic and scalable interventions are urgently required to address this disproportionate burden of dementia in Aboriginal populations.

Research

What is the quality of evidence informing vaccine clinical practice recommendations in Australia?

Vaccine policy and guideline recommendations require high quality evidence. A review of the evidence quality used to inform vaccine clinical practice guidelines could help guide researchers on how to improve the design of their clinical studies to produce evidence of greater value to decision-makers.

Research

Breastfeeding patterns and total volume of human milk consumed influence the development of the infant oral microbiome

The oral microbiome of breastfed infants is distinct from that of formula-fed infants. However, breastfeeding characteristics, such as time spent breastfeeding (min/24 h), breastfeeding frequency (number of breastfeeds per day), and human milk intake (ml/day) vary significantly between breastfeeding dyads.

Research

Fetal Alcohol Spectrum Disorder (FASD)

Fetal Alcohol Spectrum Disorder (FASD) is a lifelong condition characterised by severe neurodevelopmental impairment due to prenatal exposure to alcohol.

Reports and Findings

Discover more about Telethon Kids Institute research.

Research

Down Syndrome

Down syndrome, also known as Trisomy 21, is one of the most common chromosome abnormalities in humans. It occurs when a child's cells end up with 47 chromosomes instead of the usual 46. Down syndrome causes intellectual disability and other physical and learning challenges.

Research

Anaphylaxis

Anaphylaxis is rapid onset severe allergic reaction to an allergen. These allergens are most commonly food, insects, or medication. Anaphylactic reactions are serious and can be life-threatening.