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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

Reasons for elective surgery cancelations and their impact vary from one institution to another. Cancelations have emotional and financial implications for patients and their families. Our service has a particularly broad and geographically diverse patient population; hence, we sought to examine these impacts in our service.

Research

Under basal insulin levels, there is an inverted U relationship between exercise intensity and exogenous glucose requirements to maintain stable blood glucose levels in type 1 diabetes (T1D), with no glucose required for intense exercise (80% V̇O2 peak), implying that high-intensity exercise is not conducive to hypoglycemia.

Research

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.

Research

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

Research

Staphylococcus aureus (S. aureus) infections are notoriously complicated by the ability of the organism to grow in biofilms and are difficult to eradicate with antimicrobial therapy.

Research

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.

Research

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.

Research

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

Coronavirus disease 2019 (COVID-19) is an acute respiratory illness caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). SARS-CoV-2 initially was identified from a cluster of patients admitted with ‘pneumonia of unknown etiology’ in late December 2019 to hospitals in Wuhan, Hubei Province, China.