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Consultation informs strategies for improving the use of functional evidence in variant classificationWhen 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.
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Prevalence of attention deficit hyperactivity disorder/hyperkinetic disorder of pediatric and adult populations in clinical settings: a systematic review, meta-analysis and meta-regressionAttention-Deficit/Hyperactivity Disorder (ADHD)/Hyperkinetic Disorder (HD) is linked to increased risks of morbidity, comorbidity and mortality, with higher prevalence in clinical populations. The differential prevalence of ADHD/HD across adult and pediatric clinical populations, influenced by factors such as time trends, sex, age, geographic regions, and comorbidities, has not been systematically assessed.
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Local progress towards achieving the End TB targets in Ethiopia: A geospatial analysisCountry-level estimates can mask local geographic variations in progress toward achieving World Health Organization's End TB targets. This study aimed to identify spatial variations in progress toward achieving the TB incidence reduction target at a district level in Ethiopia.
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Does exercise in cool water cause a higher risk of hypoglycaemia than in thermoneutral conditions in type 1 diabetes?The aim of this study was to test the hypothesis that exercise in cool water results in a greater decrease in blood glucose concentration than in thermoneutral water or on land in individuals with type 1 diabetes.
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Combination of curcumin or chitosan with photodynamic therapy as an effective alternative therapy for overcoming wound infection associated with multidrug-resistant Acinetobacter baumanniiThe increasing prevalence of multidrug-resistant Acinetobacter baumannii as an opportunistic pathogen in wound infections raises significant concerns due to its antibiotic resistance and biofilm-mediated antibiotic tolerance. This underscores the urgent need to explore an alternative approach to effectively managing wound infections caused by MDR A. baumannii.
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Evaluation of the Acceptability and Feasibility of the Social Attention and Communication Surveillance-Revised (SACS-R) Tool for Early Identification of Autism in Preterm InfantsPreterm birth is associated with a 3.3-fold increased likelihood of autism diagnosis, with lower gestational age conferring higher likelihood. In Australia, autism is typically diagnosed at around age four, potentially missing the optimal neuroplasticity window before age two. The Social Attention and Communication Surveillance-Revised (SACS-R) tool identifies early autism signs in children aged 11-30 months, enabling pre-emptive intervention.
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The Heart Health Yarning Tool: Co-Designing a Shared Decision-Making Tool With Aboriginal and Torres Strait Islander People for Cardiovascular Disease Prevention and Risk ManagementDue to the ongoing impact of colonisation, Aboriginal and Torres Strait Islander people live with a greater burden of cardiovascular disease (CVD) than non-Indigenous Australians. Shared decision-making (SDM) is recognised as an essential component of person-centred care. However, there has been a lack of tools to support clinician communication and SDM to address CVD prevention in this important 'at-risk' population.
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Unpacking the “black box” of safe respiratory physiotherapy interventions delivered in the home for children with cerebral palsy and medical complexityDescribe the physiotherapy interventions provided to children with cerebral palsy at risk of respiratory illness and determine criteria for safe in-home treatment.
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Accuracy of a 2-minute eye-tracking assessment to differentiate young children with and without autismEye-tracking could expedite autism identification/diagnosis through standardisation and objectivity. We tested whether Gazefinder autism assessment, with Classification Algorithm derived from gaze fixation durations, would have good accuracy (area under the curve [AUC] ≥ 0.80) to differentiate 2-4-year-old autistic from non-autistic children.
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Lytic activity, stability, biofilm disruption capabilities and genomic characterisation of two bacteriophages active against respiratory MRSAThis study aimed to characterise bacteriophages for potential therapeutic use against Staphylococcus aureus, focusing on clinical respiratory isolates of methicillin-sensitive (MSSA) and methicillin-resistant (MRSA) strains. Specifically, it sought to evaluate phage lytic activity, host range, stability, biofilm disruption capabilities, and overall safety for therapeutic use.