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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.
Mutations in the TANGO2 gene cause an autosomal recessive disorder characterised by developmental delay, stress-induced episodic rhabdomyolysis, and cardiac arrhythmias along with severe metabolic crises. Although TANGO2 mutations result in a well characterised disease pathology, the function of TANGO2 is still unknown.
The 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.
The majority of Australian children exceed the World Health Organization's recommended dietary intake of free sugar, particularly through the consumption of sugar-sweetened beverages. Front-of-pack nutrition labels increase perceived risk and deter the consumption of sugar-sweetened beverages.
Common food allergens have been detected in breast milk with wide inter-individual variations in concentrations. As maternal factors, such as age, smoking, and body mass index have been associated with breast milk composition, we aimed to identify maternal characteristics associated with the concentration of food allergens in breast milk.
The objective of this scoping review is to understand the nature of the published evidence on housing suitability, affordability, insecurity, and homelessness in relation to physical and mental health, domestic violence, and health service use among Indigenous people in high-income countries.
Several studies have established that patients with localized perinatal neuroblastoma can be safely observed; however, long-term outcomes have not been previously reported. We evaluated long-term outcomes of infants with suspected perinatal neuroblastoma enrolled on the Children's Oncology Group ANBL00P2, which included an expectant observation approach.
The human milk microbiome is dominated by typical oral and skin bacteria, suggesting that bacterial communities from the infant mouth and maternal skin contribute to the development of the human milk microbiome. It is postulated that breastfeeding characteristics, such as breastfeeding frequency and duration, could lead to different levels of exposure to oral and skin bacteria, and subsequently, altered bacterial profiles in human milk.
This study provides new knowledge on ARF characteristics and management and highlights international variation in diagnostic and management practice.
People with intellectual disability experience higher rates of physical and mental health problems than those without intellectual disability. Health literacy includes accessing, understanding, appraising and applying health information. Improving health literacy is associated with better health outcomes. The internet is a primary source of health information for many people. This study aimed to evaluate available online health resources for people with intellectual disability and their families to understand information gaps.