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NTNG1 mutations are a rare cause of Rett syndromeA translocation that disrupted the netrin G1 gene (NTNG1) was recently reported in a patient with the early seizure variant of Rett syndrome (RTT).
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Relationship between early motor milestones and severity of restricted and repetitive behaviors in children and adolescents with autism spectrum disorderThis study provides the first evidence for the association between restricted and repetitive behaviors and age of attainment of early motor milestones.
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Deletions in the CDKL5 5 untranslated region lead to CDKL5 deficiency disorderPathogenic variants in the cyclin-dependent kinase-like 5 (CDKL5) gene are associated with CDKL5 deficiency disorder (CDD), a severe X-linked developmental and epileptic encephalopathy.
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Are scabies and impetigo “normalised”? A cross-sectional comparative study of hospitalised children in northern Australia assessing clinical recognitionScabies and impetigo infections are under-recognised and hence under-treated by clinicians
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Predictors of Change in Wellbeing and Mental Health of Parents of Autistic Pre-SchoolersParenting is a rewarding experience but is not without its challenges. Parents of Autistic children face additional challenges, and as a result can experience lower levels of wellbeing and more mental health problems (i.e., depression, anxiety, stress). Previous studies have identified concurrent correlates of wellbeing and mental health.
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Randomized controlled trial of early regular egg intake to prevent egg allergyWe aimed to determine whether regular consumption of egg protein from 4-6 month old reduced the risk of IgE-mediated egg allergy in infants without eczema.
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Description of Total Population Hospital Admissions for Treacher Collins Syndrome in AustraliaTo describe patterns and demographic characteristics of total-population hospital admissions with a diagnosis of Treacher Collins syndrome (TCS) in Australia.
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Repeated vaccination does not appear to impact upon influenza vaccine effectiveness against hospitalization with confirmed influenzaThese findings reinforce current recommendations for annual influenza vaccination, particularly those at greatest risk of influenza disease.
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Community participation: Conversations with parent-Carers of young women with Rett syndromeIn this paper, the issue of people with profound intellectual and multiple disabilities facing significant challenges to participating in their community is...
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Exploiting temporal aspects of cancer immunotherapyMany mechanisms underlying an effective immunotherapy-induced antitumour response are transient and critically time dependent. This is equally true for several immunological events in the tumour microenvironment induced by other cancer treatments. Immune checkpoint therapy (ICT) has proven to be very effective in the treatment of some cancers, but unfortunately, with many cancer types, most patients do not experience a benefit.
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3-Dimensional Virtual Reality Versus 2-Dimensional Video for Distraction during the Induction of Anesthesia in Children to Reduce Anxiety: A Randomized Controlled TrialPreoperative anxiety is common in children. It can contribute to negative experiences with anesthetic induction and may cause adverse physiological and psychological effects. Virtual reality (VR) and electronic tablet devices are 2 audiovisual distraction tools that may help to reduce anxiety and enhance the preoperative experience. This study aimed to compare the use of an immersive 3-dimensional (3D) VR to 2-dimensional (2D) video on anxiety in children during induction of general anesthesia.
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A newborn's perspective on immune responses to foodIn this review, we will highlight infants' immune responses to food, emphasizing the unique aspects of early-life immunity and the critical role of breast milk as a food dedicated to infants. Infants are susceptible to inflammatory responses rather than immune tolerance at the mucosal and skin barriers, necessitating strategies to promote oral tolerance that consider this susceptibility.
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Population-referenced percentiles for total movement and energetic play at early childhood education and careChildcare services such as preschools and long day care centres have been identified as a key setting to promote physical activity in early childhood as they provide access to large numbers of children for prolonged periods. Yet, specific standards for the type and amount of physical activity children accumulate whilst attending childcare are lacking. The purpose of this study was to derive population-referenced percentile values for children's total movement and energetic play whilst attending early childhood education and care services.
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EphA3-targeted chimeric antigen receptor T cells are effective in glioma and generate curative memory T cell responsesHigh-grade gliomas including glioblastoma (GBM) and diffuse midline gliomas (DMG) represent the most lethal and aggressive brain cancers where current treatment modalities offer limited efficacy. Chimeric antigen receptor (CAR) T cell therapies have emerged as a promising strategy, boasting tumor-specific targeting and the unique ability to penetrate the blood-brain barrier.
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Can flash glucose monitoring improve glucose management for Aboriginal and Torres Strait Islander peoples with type 2 diabetes? A protocol for a randomised controlled trialAboriginal and Torres Strait Islander peoples are disproportionately impacted by type 2 diabetes. Continuous glucose monitoring technology (such as Abbott Freestyle Libre 2, previously referred to as Flash Glucose Monitoring) offers real-time glucose monitoring that is convenient and easy to use compared to self-monitoring of blood glucose.