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Research

Preparing for prevention: Assessing the community awareness of RSV and other childhood infections

Respiratory Syncytial Virus (RSV) is one of the most common reasons babies are admitted to hospital – with Aboriginal and preterm infants at greatest risk.

Research

Identifying SETBP1 haploinsufficiency molecular pathways to improve patient diagnosis using induced pluripotent stem cells and neural disease modelling

SETBP1 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.

Research

The relationship between non-communicable disease risk and mental wellbeing in adolescence: a cross-sectional study utilising objective measures in Indonesia

Risk 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.

Research

Characteristics of patients ≥10 years of age with diffuse intrinsic pontine glioma: a report from the International DIPG/DMG Registry

Diffuse 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.

Research

Silencing of GATA3 defines a novel stem cell-like subgroup of ETP-ALL

GATA3low ETP-ALL is a novel stem cell-like leukemia with implications for the use of myeloid-derived therapies

Research

The potential of antisense oligonucleotide therapies for inherited childhood lung diseases

Antisense 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.

Research

EEG power at 3 months in infants at high familial risk for autism

Reduced frontal power at 3 months may indicate increased risk for reduced expressive language skills at 12 months.

Research

Dose-Banding of Intravenous Piperacillin-Tazobactam in Pediatric Surgical Inpatients

Dosing errors are the most commonly reported medication error in children. Dosing is often prescribed per weight or based on body area.

Research

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-analysis

We think that variants in genes involved in fructose metabolism and ChREBP-FGF21 pathway interacts with SSB intake to exacerbate associations with SSB intake.

Research

Moving beyond behaviour-only assessment: Incorporating biomarkers to improve the early detection and diagnosis of autism spectrum disorders

This paper presents a response to the Camarata (2014) lead article regarding the accuracy and effectiveness of early identification and early intervention...