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Research

We aimed to define the clinical and variant spectrum and to provide novel molecular insights into the DHX30-associated neurodevelopmental disorder. Clinical and genetic data from affected individuals were collected through Facebook-based family support group, GeneMatcher, and our network of collaborators.

Research

The emergence of the novel severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), sparking a global pandemic, has driven an imperative to quickly design and conduct treatment studies. We strongly propose a national, coordinated approach for randomised controlled trials (RCTs) for coronavirus disease 2019 (COVID-19), future pandemics and inter-pandemic periods in Australia.

Research

Asthma is the most common chronic lung disease in childhood. There has been a significant worldwide effort to develop tools/methods to identify children's risk for asthma as early as possible for preventative and early management strategies. Unfortunately, most childhood asthma prediction tools using conventional statistical models have modest accuracy, sensitivity, and positive predictive value.

Research

In children with Prader-Willi syndrome (PWS), growth hormone (GH) improves height and body composition; however, may be associated with worsening sleep-disordered breathing (SDB). Some studies have reported less SDB after GH initiation, but follow-up with polysomnography is still advised in most clinical guidelines.

Research

The increase in childhood allergic disease in recent decades has coincided with increased folic acid intakes during pregnancy. Circulating unmetabolized folic acid (UMFA) has been proposed as a biomarker of excessive folic acid intake. We aimed to determine if late-pregnancy serum UMFA and total folate concentrations were associated with allergic disease risk in the offspring at 1 y of age in a population at high risk of allergy.

Research

Aboriginal and Torres Strait Islander peoples in Australia have an inequitable burden of acute rheumatic fever (ARF) and rheumatic heart disease (RHD), concentrated among young people and necessitating ongoing medical care during adolescence. There is an unmet need for improved well-being and support for these young people to complement current biomedical management.

Research

In recent decades, the conduct of uniform prospective clinical trials has led to improved remission rates and survival for patients with acute myeloid leukaemia and acute lymphoblastic leukaemia. However, high-risk patients continue to have inferior outcomes, where chemoresistance and relapse are common due to the survival mechanisms utilised by leukaemic cells.

Research

Mitochondrial ribosomes are specialized for the synthesis of membrane proteins responsible for oxidative phosphorylation. Mammalian mitoribosomes have diverged considerably from the ancestral bacterial ribosomes and feature dramatically reduced ribosomal RNAs. The structural basis of the mammalian mitochondrial ribosome assembly is currently not well understood. Here we present eight distinct assembly intermediates of the human large mitoribosomal subunit involving seven assembly factors.

Research

Emerging evidence supports the physical health and social benefits of dog ownership. This study examined the longitudinal effect of dog ownership and dog walking on mental health.

Research

Type 1 diabetes presents significant challenges for optimal management. Despite intensive glycaemic control being the standard of care for several decades, glycaemic targets are infrequently achieved and the burden of complications remains high. Therefore, the advancement of diabetes management technologies has a major role in reducing the clinical and economic impact of the disease on people living with type 1 diabetes and on health care systems.