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TANGO2 binds crystallin alpha B and its loss causes desminopathy

Mutations in the TANGO2 gene cause an autosomal recessive disorder characterised by developmental delay, stress-induced episodic rhabdomyolysis, and cardiac arrhythmias along with severe metabolic crises. Although TANGO2 mutations result in a well characterised disease pathology, the function of TANGO2 is still unknown. 

Parent and Child Choice of Sugary Drinks Under Four Labelling Conditions

The majority of Australian children exceed the World Health Organization's recommended dietary intake of free sugar, particularly through the consumption of sugar-sweetened beverages. Front-of-pack nutrition labels increase perceived risk and deter the consumption of sugar-sweetened beverages. 

Exploring the evidence on housing and health among Indigenous peoples in high-income countries: A scoping review protocol

The objective of this scoping review is to understand the nature of the published evidence on housing suitability, affordability, insecurity, and homelessness in relation to physical and mental health, domestic violence, and health service use among Indigenous people in high-income countries.

Effect of methylphenidate exposure on glutamate and glutamate-related metabolites in patients with ADHD: a systematic review

Dysfunctional glutamatergic neurotransmission has been implicated in the underlying pathogenesis of Attention Deficit Hyperactivity Disorder (ADHD). The psychostimulant methylphenidate (MPH), which is used as a first line treatment for ADHD, has been shown to have both acute and chronic effects on prefrontal cortex glutamatergic afferents. Animal studies have also identified an effect of MPH and glutamate in prefrontal areas. Despite this there are ongoing questions as to the extent and direction of this effect, as well as its impact on other neurobiological processes. 

Therapeutic potential of plant-based therapies in pediculosis capitis: Systematic review and meta-analysis

Pediculosis capitis is a worldwide prevalent public health issue, mostly involving children. Resistance has been increasingly identified with conventional treatments such as permethrin or malathion. We aimed to evaluate the therapeutic potential of plant-based therapies for pediculosis capitis. PubMed, MEDLINE, Embase, EmCare, Web of Science, Cochrane, and ScienceDirect were searched for studies.

Longitudinal observational research study: establishing the Australasian Congenital Cytomegalovirus Register (ACMVR)

Congenital cytomegalovirus (cCMV) is an important cause of long-term childhood disability. In Australia, the identification and treatment practices and the long-term clinical and neurodevelopmental outcomes of children with cCMV are unknown.

Caregiver broader autism phenotype does not moderate the effect of early caregiver-mediated support on infant language outcomes

Caregiver-mediated supports in general have shown mixed evidence for enhancing language outcomes in infants at higher likelihood of autism. While caregivers play a substantial role in caregiver-mediated supports, little is known about whether caregivers' own subclinical autistic features - known as broader autism phenotype - may moderate infant language outcomes. 

Parental Experiences of Having a Child Diagnosed With Septo-Optic Dysplasia

Septo-optic dysplasia (SOD) is a congenital disorder affecting 1 in 10,000 births, defined by the presence of at least two of a clinical triad, consisting of optic nerve hypoplasia, midline brain defects and pituitary hormone deficiency. Children with SOD may have vision impairment, hormonal deficiencies, developmental disorders, or epilepsy, but the clinical picture is highly variable. The complexity of SOD, its interplay with family factors, and the need for multiple specialty commitments can make the diagnosis period a challenging time for families.

Does exercise in cool water cause a higher risk of hypoglycaemia than in thermoneutral conditions in type 1 diabetes?

The aim of this study was to test the hypothesis that exercise in cool water results in a greater decrease in blood glucose concentration than in thermoneutral water or on land in individuals with type 1 diabetes.

Determining the Mental Wellbeing of Family Day Care Educators in Australia

Family Day Care (FDC) is an essential service supporting Australian families requiring convenient, versatile, and quality education and care for their children. FDC educators’ mental wellbeing (MWB), often overlooked, is vital to ensure optimal education and care. This study aimed to gauge Australian FDC educators’ MWB and identify factors positively or negatively affecting MWB.