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Accuracy of Central Neuro-Imaging Review of DIPG Compared with Histopathology in the International DIPG Registry

Diffuse intrinsic pontine glioma (DIPG) remains a clinico-radiologic diagnosis without routine tissue acquisition. Reliable imaging distinction between DIPG and other pontine tumors with potentially more favorable prognoses and treatment considerations is essential.

Ultra high-risk PFA ependymoma is characterized by loss of chromosome 6q

Within PF-EPN-A, 1q gain is a marker of poor prognosis, however, it is unclear if within PF-EPN-A additional cytogenetic events exist which can refine risk stratification.

Rare case of spontaneous simultaneous extensive subcutaneous emphysema, bilateral pneumothoraces, pneumomediastinum and pneumorrhachis

Nick Gottardo MBChB FRACP PhD Head of Paediatric and Adolescent Oncology and Haematology, Perth Children’s Hospital; Co-head, Brain Tumour Research

Official ERS technical standard: Global Lung Function Initiative reference values for static lung volumes in individuals of European ancestry

Measurement of lung volumes across the life course is critical to the diagnosis and management of lung disease. The aim of the study was to use the Global Lung Function Initiative methodology to develop all-age multi-ethnic reference equations for lung volume indices determined using body plethysmography and gas dilution techniques.

Whole genome, transcriptome and methylome profiling enhances actionable target discovery in high-risk pediatric cancer

The Zero Childhood Cancer Program is a precision medicine program to benefit children with poor-outcome, rare, relapsed or refractory cancer. Using tumor and germline whole genome sequencing (WGS) and RNA sequencing (RNAseq) across 252 tumors from high-risk pediatric patients with cancer, we identified 968 reportable molecular aberrations.

The plural of anecdote is not data, please mind the gap

The COVID-19 pandemic introduced challenges to everyone in society but particularly so to every aspect of medical practice. It is bewildering how quickly the profession has had to respond to rapidly changing clinical landscape. Our well-established methods involve collecting and analyzing data to generate an evidence base which is then disseminated and implemented into routine clinical practice.

Variants associated with HHIP expression have sex-differential effects on lung function

Lung function is highly heritable and differs between the sexes throughout life. However, little is known about sex-differential genetic effects on lung function. We aimed to conduct the first genome-wide genotype-by-sex interaction study on lung function to identify genetic effects that differ between males and females.

Admissions in Children with Down Syndrome: Experience of a Population-Based Cohort Followed from Birth

This study describes patterns of hospitalisations for children and young people with Down syndrome in Western Australia.

Molecular characterization of identical, novel MLL-EPS15 translocation and individual genomic

Acute Lymphoblastic Leukemia (ALL) occurring in the first year of life is rare.

Influenza vaccination in pregnancy among a group of remote dwelling Aboriginal and Torres Strait Islander mothers in the Northern Territory

We examined uptake of inactivated influenza vaccination in pregnancy and report adverse birth outcomes amongst a predominantly unvaccinated group