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        Research

        CDKL5 deficiency disorder: clinical features, diagnosis, and management

        CDKL5 deficiency disorder (CDD) was first identified as a cause of human disease in 2004. Although initially considered a variant of Rett syndrome, CDD is now recognised as an independent disorder and classified as a developmental epileptic encephalopathy. ...

        Research

        Antifungal use in children with acute leukaemia: state of current evidence and directions for future research

        Invasive fungal disease (IFD) remains a common and serious complication in children treated for leukaemia. Antifungal prescription in children with leukaemia presents unique challenges, particularly due to variation in IFD risk between and within leukaemia treatment protocols, drug toxicities and interactions between antifungals and chemotherapeutic agents. ...

        Research

        Potentially Pathogenic Organisms in Stools and Their Association With Acute Diarrheal Illness in Children Aged <2 Years

        Acute diarrheal illness (ADI) causes a substantial disease burden in high-income countries. We investigated associations between potentially pathogenic organisms in stools and ADI by polymerase chain reaction (PCR) in Australian children aged <2 years. ...

        Research

        AI-Driven Cell Tracking to Enable High-Throughput Drug Screening Targeting Airway Epithelial Repair for Children with Asthma

        The airway epithelium of children with asthma is characterized by aberrant repair that may be therapeutically modifiable. The development of epithelial-targeting therapeutics that enhance airway repair could provide a novel treatment avenue for childhood asthma. ...

        Research

        Clinical practice guidelines for paediatric X-linked hypophosphataemia in the era of burosumab

        X-linked hypophosphataemia (XLH), the most common inherited form of rickets, is caused by a PHEX gene mutation that leads to excessive serum levels of fibroblast growth factor 23 (FGF23). This leads to clinical manifestations such as rickets, osteomalacia, pain, lower limb deformity and overall diminished quality of life. ...

        Research

        Bacille Calmette-Guérin vaccine reprograms human neonatal lipid metabolism in vivo and in vitro

        Vaccines have generally been developed with limited insight into their molecular impact. While systems vaccinology enables characterization of mechanisms of action, these tools have yet to be applied to infants, who are at high risk of infection and receive the most vaccines. Bacille Calmette-Guérin (BCG) protects infants against disseminated tuberculosis (TB) and TB-unrelated infections via incompletely understood mechanisms. ...

        Research

        "Capturing the magic": identifying the active ingredients of a physical activity participation intervention for children and youth with disabilities

        This study aimed to define the active ingredients of a participation-focused physical activity intervention for children and youth with disabilities. ...

        Research

        Common data elements to standardize genomics studies in cerebral palsy

        To define clinical common data elements (CDEs) and a mandatory minimum data set (MDS) for genomic studies of cerebral palsy (CP). Method: Candidate data elements were collated following a review of the literature and existing CDEs. ...

        Research

        Mucus and mucus flake composition and abundance reflect inflammatory and infection status in cystic fibrosis

        Mucus hyperconcentration in cystic fibrosis (CF) lung disease is marked by increases in both mucin and DNA concentration. Additionally, it has been shown that half of the mucins present in bronchial alveolar lavage fluid from preschool-aged CF patients are present in as non-swellable mucus flakes. ...

        Research

        Responding to Suicide Clusters in the Community: What Do Existing Suicide Cluster Response Frameworks Recommend and How Are They Implemented?

        Suicide clusters involve an excessive number of suicides, suicide attempts, or both, that occur close in space or time or involve social links between cluster members. Although suicide clusters are rare, evidence documenting the implementation of suicide cluster response activities in communities is required yet remains limited. ...

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