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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.
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.
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.
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.
Language is significant for communicating knowledge across cultures and generations and has the power to attribute meanings and alter our worldviews.
Acute rheumatic fever is an autoimmune disorder resulting from Group A Streptococcus pharyngitis or impetigo in children and adolescents, which may evolve to rheumatic heart disease (RHD) with persistent cardiac valve damage. RHD causes substantial mortality and morbidity globally, predominantly among socioeconomically disadvantaged populations, with an interplay of social determinants of health and genetic factors determining overall risk.
Eradication and elimination strategies for lymphatic filariasis (LF) primarily rely on multiple rounds of annual mass drug administration (MDA), but also may benefit from vector control interventions conducted by malaria vector control programs. We aim to examine the overlap in LF prevalence and malaria vector control to identify potential gaps in program coverage.
Congenital cytomegalovirus (cCMV) is an important cause of long-term childhood disability. In Australia, the identification and treatment practices and the long-term clinical and neurodevelopmental outcomes of children with cCMV are unknown.
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.