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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.
Survivors of preterm birth (<37 weeks' gestation) have low peak oxygen uptake, a global measure of aerobic fitness and an established predictor of increased morbidity and mortality. However, little is known about other cardiopulmonary outcome measures in this population. We addressed the hypothesis that preterm birth is associated with abnormal respiratory, cardiovascular and metabolic responses to exercise, as assessed by cardiopulmonary exercise testing, via a systematic review and meta-analysis.
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.
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.
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.
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.
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.
Language is significant for communicating knowledge across cultures and generations and has the power to attribute meanings and alter our worldviews.
Acute rheumatic fever is an autoimmune disorder resulting from Group A Streptococcus pharyngitis or impetigo in children and adolescents, which may evolve to rheumatic heart disease (RHD) with persistent cardiac valve damage. RHD causes substantial mortality and morbidity globally, predominantly among socioeconomically disadvantaged populations, with an interplay of social determinants of health and genetic factors determining overall risk.
Vaccination against SARS-CoV-2 was a crucial public health measure during the COVID-19 pandemic. Among the multiple strategies developed to increase vaccine uptake, governments often employed vaccine mandates. However, little evidence exists globally about the impact of these mandates and their subsequent removal on vaccine uptake, including in Australia, France, Italy and the USA.