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MECP2 duplication syndrome in the news

Our own Dr Helen Leonard was recently featured on Today Tonight. MECP2 duplication syndrome, which more frequently affects boys, is one of the Rett syndrome...

IASSIDD 15th World Congress

Our AussieRett team recently visited Melbourne, Australia for the IASSIDD 15th World Congress.

Ancestral SARS-CoV-2, but not Omicron, replicates less efficiently in primary pediatric nasal epithelial cells

Children typically experience more mild symptoms of Coronavirus Disease 2019 (COVID-19) when compared to adults. There is a strong body of evidence that children are also less susceptible to Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) infection with the ancestral viral isolate.

Urinary tract infections in children: building a causal model-based decision support tool for diagnosis with domain knowledge and prospective data

Diagnosing urinary tract infections (UTIs) in children in the emergency department (ED) is challenging due to the variable clinical presentations and difficulties in obtaining a urine sample free from contamination.

Protection against severe infant lower respiratory tract infections by immune training: Mechanistic studies

Results from recent clinical studies suggest potential efficacy of immune training (IT)-based approaches for protection against severe lower respiratory tract infections in infants, but underlying mechanisms are unclear.

Toward better characterization of restricted and unusual interests in youth with autism

Despite being highly prevalent among people with autism, restricted and unusual interests remain under-researched and poorly understood. This article confirms that restricted interests are very frequent and varied among children and adolescents with autism. It also further extends current knowledge in this area by characterizing the relationship between the presence, number, and type of restricted interests with chronological age, sex, cognitive functioning, and social and communication symptoms.

Collecting exhaled breath condensate from non-ventilated preterm-born infants: a modified method

Exhaled breath condensate (EBC) collection is a non-invasive, safe method for measurement of biomarkers in patients with lung disease. Other methods of obtaining samples from the lungs, such as bronchoalveolar lavage, are invasive and require anaesthesia/sedation in neonates and infants. EBC is particularly appealing for assessing biomarkers in preterm-born infants, a population at risk of ongoing lung disease.

Knowing your audience: Investigating stillbirth knowledge and perceptions in the general population to inform future public health campaigns

The prevalence of stillbirth in many high income countries like Australia has remained unchanged for over 30 years. The 2018 Australian government Senate Select Committee on Stillbirth Research and Education highlighted the need for a public health campaign to encourage public conversations and increase awareness.

Rift Valley fever seropositivity in humans and domestic ruminants and associated risk factors in Sengerema, Ilala, and Rufiji districts, Tanzania

Data on Rift Valley fever virus (RVFV) prevalence in urban settings and pastoral areas of Tanzania are scarce. We performed a cross-sectional study of RVFV seroprevalence and determinants in humans and animals from Ilala, Rufiji, and Sengerema districts of Tanzania.

Stepwise GATA1 and SMC3 mutations alter megakaryocyte differentiation in a Down syndrome leukemia model

Acute megakaryoblastic leukemia of Down syndrome (DS-AMKL) is a model of clonal evolution from a preleukemic transient myeloproliferative disorder requiring both a trisomy 21 (T21) and a GATA1s mutation to a leukemia driven by additional driver mutations.