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The accurate and efficient diagnosis of rare diseases, many of which include congenital anomalies, depends largely on the specialists who diagnose them - including their ability to work alongside specialists from other fields and to take full advantage of cutting-edge precision medicine technologies and precision public health approaches.

Research

To investigate the relationship between time spent outdoors, at particular ages in childhood and adolescence, and myopia status in young adulthood using serum 25-hydroxyvitamin D [25(OH)D] concentration as a biomarker of time spent outdoors. Participants of the Raine Study Generation 2 cohort had 25(OH)D concentrations measured at the 6-, 14-, 17- and 20-year follow-ups. Participants underwent cycloplegic autorefraction at age 20 years, and myopia was defined as a mean spherical equivalent -0.50 dioptres or more myopic. Logistic regression was used to analyse the association between risk of myopia at age 20 years and age-specific 25(OH)D concentrations. Linear mixed-effects models were used to analyse trajectory of 25(OH)D concentrations from 6 to 20 years.

Research

Cardiovascular disease occurs prematurely in type 1 diabetes. The additional risk of overweight is not well characterized. The primary aim was to measure the impact of body mass index (BMI) in youth with type 1 diabetes on cardiovascular risk factors. The secondary aim was to identify other determinants of cardiovascular risk.

Research

Limited evidence is available regarding dentists' knowledge and interpretation of infective endocarditis (IE) prophylaxis guidelines. The aim of this study was to determine understanding and management of rheumatic and non-rheumatic valvular heart disease (VHD) in the dental setting in Western Australia (WA).

Research

While access to highly active antiretroviral therapy (HAART) for children with HIV has expanded and the use of HAART has substantially reduced the morbidity and mortality of children due to HIV, poor treatment outcomes among children with HIV are still a major public health problem globally. The aim of this systematic review and meta-analysis is to quantify treatment outcomes among children with HIV.

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The aim of this study was to provide a comprehensive evidence on risk factors for transmission, disease severity and COVID-19 related deaths in Africa. A systematic review has been conducted to synthesise existing evidence on risk factors affecting COVID-19 outcomes across Africa.

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Late-onset sepsis (LOS) with Staphylococcus epidermidis is common in preterm infants, but the immunological mechanisms underlying heightened susceptibility are poorly understood. Our aim is to characterize the ontogeny of cytokine responses to live S. epidermidis in preterm infants with and without subsequent Gram-positive LOS.

Research

Immunotherapy has revolutionised the treatment of cancers by harnessing the power of the immune system to eradicate malignant tissue. However, it is well recognised that some cancers are highly resistant to these therapies, which is in part attributed to the immunosuppressive landscape of the tumour microenvironment (TME). The contexture of the TME is highly heterogeneous and contains a complex architecture of immune, stromal, vascular and tumour cells in addition to acellular components such as the extracellular matrix. While understanding the dynamics of the TME has been instrumental in predicting durable responses to immunotherapy and developing new treatment strategies, recent evidence challenges the fundamental paradigms of how tumours can effectively subvert immunosurveillance. Here, we discuss the various immunosuppressive features of the TME and how fine-tuning these mechanisms, rather than ablating them completely, may result in a more comprehensive and balanced anti-tumour response.

Research

Epidemiological studies indicate that children of parents with mental health problems are at an increased risk of developing anxiety disorders. Few studies have investigated this relationship in young adults. Participants were from the Raine Study, which is a multi-generational birth cohort study in Australia. Maternal anxiety and depression in late childhood were assessed using the Depression, Anxiety, and Stress Scale (DASS-42), and paternal lifetime mental health problems were assessed using a self-reported questionnaire.

Research

Parents continue to support to autistic university students, and consequently, experience considerable stress. The aim was to explore the experiences of parents of specialist peer mentored university students and to examine these using the ICF as a theoretical framework.