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When investigating whether a variant identified by diagnostic genetic testing is causal for disease, applied genetics professionals evaluate all available evidence to assign a clinical classification. Functional assays of higher and higher throughput are increasingly being generated and, when appropriate, can provide strong functional evidence for or against pathogenicity in variant classification. Despite functional assay data representing unprecedented value for genomic diagnostics, challenges remain around the application of functional evidence in variant curation.
Family Day Care (FDC) is an essential service supporting Australian families requiring convenient, versatile, and quality education and care for their children. FDC educators’ mental wellbeing (MWB), often overlooked, is vital to ensure optimal education and care. This study aimed to gauge Australian FDC educators’ MWB and identify factors positively or negatively affecting MWB.
War and conflict severely disrupt public health systems, compromising infectious disease surveillance in many affected regions. Mpox, a re-emerging zoonotic disease, poses a growing global threat, especially in areas where traditional monitoring is inaccessible.The mpox virus has distinct clades with varying transmission and severity.
The prevalence of taeniasis in Thailand has decreased over the past six decades. However, it remains a public health concern, particularly in focal areas, especially along the border regions where migration between Thailand and neighboring endemic countries is frequent. Spatial distribution analysis provides a useful method for identifying high-risk areas and implementing targeted integrated control measures. This study aimed to examine the spatial patterns of taeniasis in 2008 and 2014, along with their associated One Health risk factors at the sub-district level.
Aboriginal and Torres Strait Islander (hereafter respectfully named Indigenous) Australians are diagnosed with some cancers substantially more frequently than non-Indigenous Australians implying a different risk factor landscape. Additionally, poorer outcomes for certain cancers are exacerbated by lower cancer screening rates and later diagnoses compared to non-Indigenous Australians.
Droughts have profound and far-reaching impacts on human health and well-being, but their influence on sexual violence among adolescent girls in low- and middle-income countries (LMICs) is underexamined.This study examines the association between drought and sexual violence against adolescent girls and young women globally, using cross-sectional, nationally representative data from the Violence Against Children and Youth Surveys (VACS) from 2013 and 2019.
There is no clear clinical guidance on the use of alcohol pharmacotherapies in pregnancy due to insufficient safety information. Contraception should therefore be considered for reproductive-aged females receiving alcohol pharmacotherapies not wishing to become pregnant. This study evaluated the concurrent use of alcohol pharmacotherapies with prescription contraception and other medications in Australian females of reproductive age compared to those not receiving an alcohol pharmacotherapy.
Providing a sustainably resourced medical workforce to meet the healthcare needs of a population is a significant challenge. Drivers of medical workforce issues include an ageing population, increasing chronic disease, skill shortages and workforce maldistribution. In this paper, we consider the imbalance between generalism and specialism in Australia, arguing that generalist positions may better address the current healthcare gaps.
This is the first update of a Cochrane review published in 2020. Chronic suppurative otitis media (CSOM), sometimes referred to as chronic otitis media, is a chronic inflammation and often polymicrobial infection of the middle ear and mastoid cavity, characterised by ear discharge (otorrhoea) through a perforated tympanic membrane. The predominant symptoms of CSOM are ear discharge and hearing loss. Aural toileting describes processes for manually cleaning the ear, including dry mopping (with cotton wool or tissue paper), suction clearance (typically under a microscope), or irrigation (using manual or automated syringing). Aural toileting can be used alone or in addition to other treatments for CSOM, such as antibiotics or topical antiseptics. This is one of a suite of seven Cochrane reviews evaluating the effects of non-surgical interventions for CSOM.
Andrew Videos Whitehouse Watch and listen to Andrew PhD Deputy Director (Research); Angela Wright Bennett Professor of Autism Research at The Kids