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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

Christopher Blyth MBBS (Hons) DCH FRACP FRCPA PhD Centre Head, Wesfarmers Centre of Vaccines and Infectious Diseases; Co-Head, Infectious Diseases

Research

A previous cohort of adenotonsillectomy patients at our institution demonstrated moderate-severe post-tonsillectomy pain scores lasting a median (range) duration of 6 (0-23) days and postdischarge nausea and vomiting affecting 8% of children on day 1 following surgery. In this subsequent cohort, we evaluate the impact of changes to our discharge medication and parental education on post-tonsillectomy pain and recovery profile.

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Chinese immigrants living in Australia experience increased allergic conditions: asthma, eczema, hay fever and wheeze. Recently we reported diminished innate cytokine responses in long-term immigrants, potentially increasing their pathogenic viral load and microbial carriage. We hypothesise that a Western environment changes the nasal microbiome profile, and this altered profile may be associated with the development of allergic conditions. In this cross-sectional study, we aimed to examine the loading of viral and microbial respiratory pathogens in the upper airway.

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Overall, infant immunisation coverage is currently >90% in Australia, but there are pockets of under-immunised children including children from migrant backgrounds.

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There is a paucity of quantitative measures of resilience specifically validated for young Aboriginal people in Australia. We undertook the first investigation of validity and reliability of the Connor-Davidson Resilience Scale in a sample of Australian Aboriginal people, with a focus on youth. We conducted a cross-sectional study of resilience among a sample of 122 Aboriginal youth (15–25 years old) in New South Wales and Western Australia, featuring self-completes of the 10-item CD-RISC in online (N = 22) and face-to-face (N = 100) settings.

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This study aimed to investigate the spatial distribution of drug-resistant tuberculosis (DR-TB) in Hunan province, China. An ecological study was conducted using DR-TB data collected from the Tuberculosis Control Institute of Hunan Province between 2012 and 2018.

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Australia’s history of negative child protection outcomes for children in state care highlights the sustained, systemic nature of serious harm. Situated in emerging conversations on structural challenges and state violence for parents involved in child protection systems, we trace the resources and barriers to responsive and ‘just’ child protection practice, highlighting how institutions can serve to compound disadvantage and injustice. We argue that addressing challenges such as access to advocacy at the level of the individual is to miss the underlying politics of oppression that serves to keep families marginalised.

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We tested if disrupting iron utilisation by P. aeruginosa by adding the Tris-buffered chelating agent CaEDTA to nebulised tobramycin would enhance bacterial clearance and improve lung function in CF patients.

Research

This audit aimed to increase understanding of the long-term outcomes of evidence-based medical and surgical interventions to improve gross motor function in children and adolescents with Cerebral Palsy.