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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.
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.
Describe the physiotherapy interventions provided to children with cerebral palsy at risk of respiratory illness and determine criteria for safe in-home treatment.
Vietnam, as one of the countries in the Greater Mekong Subregion, has committed to eliminating all malaria by 2030. Declining case numbers highlight the country's progress, but challenges including imported cases and pockets of residual transmission remain. To successfully eliminate malaria and to prevent reintroduction of malaria transmission, geostatistical modelling of vulnerability (importation rate) and receptivity (quantified by the reproduction number) of malaria is critical.
Ion channel activity underlying biological processes that drive high-grade gliomas (HGG) is largely unknown. We aimed to determine the networking of ion channel genes and validate their expression within HGG patient tumors, to identify ion channel-targeting drugs that would inhibit tumor-promoting processes.
This 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.
Aboriginal and Torres Strait Islander women experience a disproportionate burden of hyperglycaemia in pregnancy. A multi-component health systems intervention aiming to improve antenatal and postpartum care was implemented across Australia’s Northern Territory (NT) and Far North Queensland (FNQ) between 2016 and 2019. Components included clinician education, improving recall systems, enhancing policies and guidelines, and embedding Diabetes in Pregnancy (DIP) Clinical Registers in systems of care. This program was evaluated to determine impacts on clinical practice and maternal health.
Despite high levels of global concern, little is known about the epidemiology of Clostridioides (Clostridium) difficile infection (CDI) in Cambodia. This study aimed to identify the prevalence and risk factors for CDI, and molecular types of C. difficile in hospitalized adults at Calmette Hospital, Phnom Penh, Cambodia.