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Research
Preparing for prevention: Assessing the community awareness of RSV and other childhood infectionsRespiratory Syncytial Virus (RSV) is one of the most common reasons babies are admitted to hospital – with Aboriginal and preterm infants at greatest risk.
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Identifying SETBP1 haploinsufficiency molecular pathways to improve patient diagnosis using induced pluripotent stem cells and neural disease modellingSETBP1 Haploinsufficiency Disorder (SETBD) is characterised by mild to moderate intellectual disability, speech and language impairment, mild motor developmental delay, behavioural issues, hypotonia, mild facial dysmorphisms, and vision impairment. Despite a clear link between SETBP1 mutations and neurodevelopmental disorders the precise role of SETBP1 in neural development remains elusive.
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The relationship between non-communicable disease risk and mental wellbeing in adolescence: a cross-sectional study utilising objective measures in IndonesiaRisk factors for non-communicable diseases (NCDs, cardiovascular diseases, cancers, chronic respiratory diseases, diabetes, and mental disorders) arise in adolescence but are mostly framed as relevant to health in adulthood; little is known about the relationship between co-occurring NCD risks and mental wellbeing in young people.
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Characteristics of patients ≥10 years of age with diffuse intrinsic pontine glioma: a report from the International DIPG/DMG RegistryDiffuse intrinsic pontine gliomas generally occur in young school-age children, although can occur in adolescents and young adults. The purpose of this study was to describe clinical, radiological, pathologic, and molecular characteristics in patients ≥10 years of age with DIPG enrolled in the International DIPG Registry.
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Silencing of GATA3 defines a novel stem cell-like subgroup of ETP-ALLGATA3low ETP-ALL is a novel stem cell-like leukemia with implications for the use of myeloid-derived therapies
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The potential of antisense oligonucleotide therapies for inherited childhood lung diseasesAntisense oligonucleotides are an emerging therapeutic option to treat diseases with known genetic origin. In the age of personalised medicines, antisense oligonucleotides can sometimes be designed to target and bypass or overcome a patient's genetic mutation, in particular those lesions that compromise normal pre-mRNA processing. Antisense oligonucleotides can alter gene expression through a variety of mechanisms as determined by the chemistry and antisense oligomer design.
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EEG power at 3 months in infants at high familial risk for autismReduced frontal power at 3 months may indicate increased risk for reduced expressive language skills at 12 months.
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Dose-Banding of Intravenous Piperacillin-Tazobactam in Pediatric Surgical InpatientsDosing errors are the most commonly reported medication error in children. Dosing is often prescribed per weight or based on body area.
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Sugar-sweetened beverage intake associations with fasting glucose and insulin concentrations are not modified by selected genetic variants in a ChREBP-FGF21 pathway: a meta-analysisWe think that variants in genes involved in fructose metabolism and ChREBP-FGF21 pathway interacts with SSB intake to exacerbate associations with SSB intake.
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Moving beyond behaviour-only assessment: Incorporating biomarkers to improve the early detection and diagnosis of autism spectrum disordersThis paper presents a response to the Camarata (2014) lead article regarding the accuracy and effectiveness of early identification and early intervention...