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CDKL5 deficiency disorder: clinical features, diagnosis, and managementCDKL5 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
Potentially Pathogenic Organisms in Stools and Their Association With Acute Diarrheal Illness in Children Aged <2 YearsAcute 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 AsthmaThe 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.
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Clinical practice guidelines for paediatric X-linked hypophosphataemia in the era of burosumabX-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.
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Bacille Calmette-Guérin vaccine reprograms human neonatal lipid metabolism in vivo and in vitroVaccines 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-GuĂ©rin (BCG) protects infants against disseminated tuberculosis (TB) and TB-unrelated infections via incompletely understood mechanisms.
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"Capturing the magic": identifying the active ingredients of a physical activity participation intervention for children and youth with disabilitiesThis study aimed to define the active ingredients of a participation-focused physical activity intervention for children and youth with disabilities.
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Mucus and mucus flake composition and abundance reflect inflammatory and infection status in cystic fibrosisMucus 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.
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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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Neonatal sepsis: a systematic review of core outcomes from randomised clinical trialsThe lack of a consensus definition of neonatal sepsis and a core outcome set proves a substantial impediment to research that influences policy and practice relevant to key stakeholders, patients and parents.
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Long-term cost-effectiveness of Dexcom G6 real-time continuous glucose monitoring system in people with type 1 diabetes in AustraliaReal-time continuous glucose monitoring allows patients with diabetes to adjust insulin dosing, potentially improving glucose control. This study aimed to compare the long-term cost-effectiveness of the Dexcom G6 rt-CGM device versus self-monitoring of blood glucose and flash glucose monitoring in Australia in people with type 1 diabetes.