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        Research

        FastHPOCR: pragmatic, fast, and accurate concept recognition using the human phenotype ontology

        Human Phenotype Ontology based phenotype concept recognition (CR) underpins a faster and more effective mechanism to create patient phenotype profiles or to document novel phenotype-centred knowledge statements. While the increasing adoption of large language models (LLMs) for natural language understanding has led to several LLM-based solutions, we argue that their intrinsic resource-intensive nature is not suitable for realistic management of the phenotype CR lifecycle. ...

        Research

        Mapping the distribution of Nipah virus infections: a geospatial modelling analysis

        Nipah virus is a zoonotic paramyxovirus responsible for disease outbreaks with high fatality rates in south and southeast Asia. However, knowledge of the potential geographical extent and risk patterns of the virus is poor. We aimed to establish an integrated spatiotemporal and phylogenetic database of Nipah virus infections in humans and animals across south and southeast Asia.  ...

        Research

        Aged care service use by Aboriginal and Torres Strait Islander people after aged care eligibility assessments, 2017–2019: a population-based retrospective cohort study

        To characterise the socio-demographic characteristics, aged and health care needs, and aged care services used by older Aboriginal and Torres Strait Islander people assessed for aged care service eligibility. ...

        Research

        Seasonal malaria chemoprevention and the spread of Plasmodium falciparum quintuple-mutant parasites resistant to sulfadoxine–pyrimethamine: a modelling study

        Seasonal malaria chemoprevention (SMC) with sulfadoxine-pyrimethamine plus amodiaquine prevents millions of clinical malaria cases in children younger than 5 years in Africa's Sahel region. However, Plasmodium falciparum parasites partially resistant to sulfadoxine-pyrimethamine (with quintuple mutations) potentially threaten the protective effectiveness of SMC. We evaluated the spread of quintuple-mutant parasites and the clinical consequences.  ...

        Research

        Interorganelle phospholipid communication, a house not so divided

        The presence of membrane-bound organelles with specific functions is one of the main hallmarks of eukaryotic cells. Organelle membranes are composed of specific lipids that govern their function and interorganelle communication. Discoveries in cell biology using imaging and omic technologies have revealed the mechanisms that drive membrane remodeling, organelle contact sites, and metabolite exchange. ...

        Research

        Efficacy thresholds and target populations for antiviral COVID-19 treatments to save lives and costs: a modelling study

        In 2023 severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) was declared endemic, yet hospital admissions have persisted and risen within populations at high and moderate risk of developing severe disease, which include those of older age, and those with co-morbidities. Antiviral treatments, currently only available for high-risk individuals, play an important role in preventing severe disease and hospitalisation within this subpopulation. ...

        Research

        Early childhood development strategy for the world's children with disabilities

        Early childhood is foundational for optimal and inclusive lifelong learning, health and well-being. Young children with disabilities face substantial risks of sub-optimal early childhood development, requiring targeted support to ensure equitable access to lifelong learning opportunities, especially in low- and middle-income countries.  ...

        Research

        Effects of ganaxolone on non-seizure outcomes in CDKL5 Deficiency Disorder: Double-blind placebo-controlled randomized trial

        CDKL5 deficiency disorder (CDD) is a rare developmental and epileptic encephalopathy. Ganaxolone, a neuroactive steroid, reduces the frequency of major motor seizures in children with CDD. This analysis explored the effect of ganaxolone on non-seizure outcomes.  ...

        Research

        A digital intervention to support childhood cognition after the COVID-19 pandemic: a pilot trial

        Difficulties in executive functioning (EF) can result in impulsivity, forgetfulness, and inattention. Children living in remote/regional communities are particularly at risk of impairment in these cognitive skills due to reduced educational engagement and poorer access to interventions. This vulnerability has been exacerbated by the COVID-19 pandemic and strategies are needed to mitigate long-term negative impacts on EF. ...

        Research

        Patient-advocate-led global coalition adapting fit-for-purpose outcomes measures to assure meaningful inclusion of DEEs in clinical trials

        Existing clinical tools that measure non-seizure outcomes lack the range and granularity needed to capture skills in developmental and epileptic encephalopathy (DEE)-affected individuals who also fall in the severe to profound range of intellectual disability. This effectively excludes those with severe impairments from clinical trials, impeding the ability of sponsors to evaluate disease-modifying therapies. ...

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