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Tricho-hepatic-enteric syndrome (THES) without intractable diarrhoeaWe report an 8 year old girl who was diagnosed with THES by the Undiagnosed Disease Program-WA with compound heterozygous pathogenic variants in SKIV2L
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Evening and night work schedules and children's social and emotional well-beingThe findings show that both mothers’ and fathers’ evening and night work schedules are linked to an increase in children's externalizing and internalizing behavior
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Active Case Finding for Rheumatic Fever in an Endemic CountryAsha Jonathan Bowen Carapetis AM BA MBBS DCH FRACP PhD GAICD FAHMS OAM AM MBBS FRACP FAFPHM PhD FAHMS Head, Healthy Skin and ARF Prevention Executive
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Parent-observed thematic data on quality of life in children with autism spectrum disorderParent observations provide an initial framework for understanding quality of life in autism spectrum disorder
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Time to tackle rheumatic heart disease: Data needed to drive global policy dialoguesThis report provides an update on the contemporary global and regional policy landscapes relevant to rheumatic heart disease
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Potential for molecular testing for group a streptococcus to improve diagnosis and management in a high-risk population: A prospective studyImplementation of molecular testing could improve antibiotic use in this high-burden setting
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Cost-effectiveness analysis of routine screening using massively parallel sequencing for maturity-onset diabetes of the young in a pediatric diabetes cohortRoutine MPS screening for Maturity-onset diabetes of the young in the pediatric population with diabetes could reduce health system costs and improve patient QoL
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Use of a primary epithelial cell screening tool to investigate phage therapy in cystic fibrosisThis study demonstrates the feasibility of utilizing pre-clinical in vitro culture models to screen therapeutic candidates
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The use of continuous glucose monitoring with remote monitoring improves psychosocial measures in parents of children with type 1 diabetes: A randomized crossover trialCGM with remote monitoring was found to improve multiple measures of quality of life, reduce family stress, and improve parental sleep
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Intraoperative neurophysiology monitoring in scoliosis surgery in childrenOur study adds to the literature supporting the role of intraoperative neurophysiology monitoring in scoliosis surgery in children