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Two cases of Leclercia adecarboxylata septic arthritis in immunocompetent paediatric patientsLeclercia adecarboxylata is a rare cause of septic arthritis in children, and has intrinsic resistance to common antibiotics. We describe two cases of L. adecarboxylata septic arthritis in children that required re-presentation to hospital with prolonged treatment, and highlight the importance of considering L. adecarboxylata as a potential cause of infection among children with penetrating injuries and associated environmental exposure.
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An expanded phenotype centric benchmark of variant prioritisation toolsIdentifying the causal variant for diagnosis of genetic diseases is challenging when using next-generation sequencing approaches and variant prioritization tools can assist in this task. These tools provide in silico predictions of variant pathogenicity, however they are agnostic to the disease under study. We previously performed a disease-specific benchmark of 24 such tools to assess how they perform in different disease contexts.
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Composition of early life leukocyte populations in preterm infants with and without late-onset sepsisComposition of leukocyte populations in the first month of life remains incompletely characterised, particularly in preterm infants who go on to develop late-onset sepsis (LOS). The aim of the study was to characterise and compare leukocyte populations in preterm infants with and without LOS during the first month of life.
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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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Severe lower limb cellulitis: Defining the epidemiology and risk factors for primary episodes in a population-based case-control studySevere lower leg cellulitis presents a major burden to the health sector and is increasing with an ageing population
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Impact of Gastrostomy Placement on Nutritional Status, Physical Health, and Parental Well-Being of Females with Rett SyndromeGastrostomy placement was associated with improvement in BMI in females with Rett syndrome, but its long-term impact on individuals and their families is unclear
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Activation of ERBB4 in Glioblastoma Can Contribute to Increased Tumorigenicity and Influence Therapeutic ResponseDespite low ERBB4 mRNA in glioblastoma, the functional effects of increased ERBB4 activation identify ERBB4 as a potential prognostic and therapeutic target
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Epidemiology and risk factors for recurrent severe lower limb cellulitis: a longitudinal cohort studySevere lower leg cellulitis recurrences are frequent, and each episode increases the likelihood of subsequent recurrence and length of hospitalization
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Study protocol for the Australian autism biobank: an international resource to advance autism discovery researchThe Australian Autism Biobank was initiated to establish a large-scale repository of biological samples and detailed clinical information about children diagnosed with ASD
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"Pre-emptive strike"-the case for early treatment of hepatic sinusoidal obstruction syndrome with defibrotideWe describe the case of a child with a right 11th rib primitive neuroectodermal tumor who developed HSOS following focal radiotherapy and actinomycin-D treatment