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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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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.
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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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Common data elements to standardize genomics studies in cerebral palsyTo 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.
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Host-dependent resistance of Group A Streptococcus to sulfamethoxazole mediated by a horizontally-acquired reduced folate transporterDescribed antimicrobial resistance mechanisms enable bacteria to avoid the direct effects of antibiotics and can be monitored by in vitro susceptibility testing and genetic methods. Here we describe a mechanism of sulfamethoxazole resistance that requires a host metabolite for activity.
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Continuity of temperament subgroup classifications from infancy to toddlerhood in the context of early autism traitsOur previous cross-sectional investigation (Chetcuti et al., 2020) showed that infants with autism traits could be divided into distinct subgroups based on temperament. This longitudinal study builds on this existing work by exploring the continuity of temperament subgroup classifications and their associations with behavioral/clinical phenotypic features from infancy to toddlerhood.
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Perceived Support Needs of School-Aged Young People on the Autism Spectrum and Their CaregiversWith increasing demands for health, disability and education services, innovative approaches can help distribute limited resources according to need. Despite an increased focus on support needs within the clinical pathway and policy landscape, the body of research knowledge on this topic is at a relatively early stage. However, there appears to be a sense of unmet support needs and dissatisfaction with the provision of required support following an autism diagnosis amongst caregivers of young people on the spectrum.
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Feasibility of upper airway collapsibility measurements in anesthetized childrenPatients with a propensity for upper airway obstruction, including those with obstructive sleep apnea (OSA), are vulnerable in the perioperative period. OSA is an increasingly common disorder in children and, when present, is associated with an increased risk of perioperative respiratory adverse events (PRAE),1 morbidity, and mortality. Therefore, identifying at-risk patients is vital to provide tailored perioperative anesthetic management.
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Direct versus video laryngoscopy with standard blades for neonatal and infant tracheal intubation with supplemental oxygen: a multicentre, non-inferiority, randomised controlled trialTracheal intubation in neonates and infants is a potentially life-saving procedure. Video laryngoscopy has been found to improve first-attempt tracheal intubation success and reduce complications compared with direct laryngoscopy in children younger than 12 months.
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Immuno-epigenomic analysis identifies attenuated interferon responses in naïve CD4 T cells of adolescents with peanut and multi-food allergyIgE-mediated food allergies have been linked to suboptimal naïve CD4 T (nCD4T) cell activation in infancy, underlined by epigenetic and transcriptomic variation. Similar attenuated nCD4T cell activation in adolescents with food allergy have also been reported, but these are yet to be linked to specific epigenetic or transcriptional changes.