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Research

In about half of all patients with a suspected monogenic disease, genomic investigations fail to identify the diagnosis. A contributing factor is the difficulty with repetitive regions of the genome, such as those generated by segmental duplications. The ATAD3 locus is one such region, in which recessive deletions and dominant duplications have recently been reported to cause lethal perinatal mitochondrial diseases characterized by pontocerebellar hypoplasia or cardiomyopathy, respectively.

Research

Prader-Willi syndrome (PWS) is a rare genetic disorder characterised by neurodevelopmental delays, hyperphagia, difficulties with social communication and challenging behaviours. Individuals require intensive supervision from caregivers which may negatively affect caregiver quality of life. This study used data collected in the Australasian PWS Registry to evaluate associations between child behaviours and caregiver mental well-being.

Research

Asha Jeffrey Bowen Cannon BA MBBS DCH FRACP PhD GAICD FAHMS OAM BSc(Hons) BBus PhD Head, Healthy Skin and ARF Prevention Health Economist

Research

Indigenous children and young peoples live with an inequitable burden of acute rheumatic fever and rheumatic heart disease. In this Review, we focus on the epidemiological burden and lived experience of these conditions for Indigenous young peoples in Australia, New Zealand, and Canada. We outline the direct and indirect drivers of rheumatic heart disease risk and their mitigation.

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Our goal was to identify genetic risk factors for cutaneous leishmaniasis (CL) caused by Leishmania braziliensis.

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Preterm infants are particularly susceptible to bacterial late-onset sepsis (LOS). Diagnosis by blood culture and inflammatory markers have sub-optimal sensitivity and specificity and prolonged reporting times. There is an urgent need for more rapid, accurate adjunctive diagnostics in LOS to improve management and minimise antibiotic exposure.

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To examine if skin autofluorescence differed in early adulthood between individuals with type 1 diabetes and age-matched controls and to ascertain if sAF aligned with risk for kidney disease.

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Breastfeeding is important for infants, and fathers are influential in supporting their partner in their decision to breastfeed and how long they breastfeed for. Fathers can feel excluded from traditional antenatal education and support opportunities but highly value social support from peers. Online health forums can be a useful source of social support, yet little is known about how fathers would use a conversation forum embedded in a breastfeeding-focused app. Milk Man is a mobile app that aimed to increase paternal support for breastfeeding using a range of strategies, including a conversation forum.

Research

Having a child on the autism spectrum (AS) is known to impact caregiver quality of life (QoL), time use, and stress. A co-occurring diagnosis of intellectual disability (ID) is common among children on the autism spectrum, with ID itself impacting caregiver outcomes. This study sought to understand how co-occurring ID in children on the autism spectrum may influence caregiver-related outcomes. Secondary analysis of survey data from caregivers of 278 children on the autism spectrum with (n = 62) and without (n = 216) co-occurring ID was conducted, exploring impacts on caregiver QoL, stress, coping, and time-use.

Research

Scabies, impetigo, and other skin and soft tissue infections (SSTIs) are highly prevalent in many tropical, low-middle income settings, but information regarding their burden of disease is scarce. We conducted surveillance of presentations of scabies and SSTIs, including impetigo, abscesses, cellulitis, and se≈vere SSTI, to primary health facilities in Fiji.