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Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 LocusIn 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.
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COVID-19 in children: I. Epidemiology, prevention and indirect impactsChildren globally have been profoundly impacted by the coronavirus disease 2019 (COVID-19) pandemic. This review explores the direct and indirect public health impacts of COVID-19 on children. We discuss in detail the transmission dynamics, vaccination strategies and, importantly, the ‘shadow pandemic’, encompassing underappreciated indirect impacts of the pandemic on children.
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High prevalence of hearing loss in urban Aboriginal infants: the Djaalinj Waakinj cohort studyChris Deborah Tamara Brennan-Jones Lehmann Veselinovic PhD AO, MBBS, MSc BSc(Hons) MClinAud PhD Head, Ear and Hearing Health Honorary Emeritus Fellow
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Echinocandins in Pediatric Invasive Candidiasis and the Challenges of Antifungal Use in ChildrenIn pediatric invasive candidiasis (IC), epidemiology and risk factors differ compared to adults. Furthermore, the use of antifungals in children is challenging and requires consideration of availability and tolerability of formulations, pharmacokinetic and pharmacodynamic variations, and safety in different age groups.
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Associations Between Hyperphagia, Symptoms of Sleep Breathing Disorder, Behaviour Difficulties and Caregiver Well-Being in Prader-Willi Syndrome: A Preliminary StudyPrader-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.
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Early Intervention Delivery Methods for New Zealand Children with Autism: Current Practices Versus Parental PreferencesLittle is known about parent preferences regarding delivery methods of early interventions. This research examined, through parent report, the current and preferred delivery methods of seven common educational early interventions accessed by New Zealand children with autism spectrum disorder.
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Phage therapy for multi-drug resistant respiratory tract infectionsThe emergence of multi-drug resistant (MDR) bacteria is recognised today as one of the greatest challenges to public health. As traditional antimicrobials are becoming ineffective and research into new antibiotics is diminishing, a number of alternative treatments for MDR bacteria have been receiving greater attention. Bacteriophage therapies are being revisited and present a promising opportunity to reduce the burden of bacterial infection in this post-antibiotic era.
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Brain-behavior links in autism spectrum disorder across the lifespanAndrew Videos Whitehouse Watch and listen to Andrew PhD Deputy Director (Research); Angela Wright Bennett Professor of Autism Research at The Kids
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The relationship between meal carbohydrate quantity and the insulin to carbohydrate ratio required to maintain glycaemia is non-linear in young people with type 1 diabetes: A randomized crossover trialTo determine if the relationship between meal carbohydrate quantity and the insulin to carbohydrate ratio (ICR) required to maintain glycaemia is linear in people with type 1 diabetes.
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The Effect of Hypoglycemia on Spectral Moments in EEG Epochs of Different Durations in Type 1 Diabetes PatientsThe potential of using an electroencephalogram (EEG) to detect hypoglycemia in patients with type 1 diabetes has been investigated in both time and frequency domains. Under hyperinsulinemic hypoglycemic clamp conditions, we have shown that the brain's response to hypoglycemic episodes could be described by the centroid frequency and spectral gyration radius evaluated from spectral moments of EEG signals.