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Research

Clinical phenotypes and prognostic features of embryonal tumours with multi-layered rosettes: a Rare Brain Tumor Registry study

Embryonal tumours with multi-layered rosettes (ETMRs) are a newly recognised, rare paediatric brain tumour with alterations of the C19MC microRNA locus. Due to varied diagnostic practices and scarce clinical data, disease features and determinants of outcomes for these tumours are poorly defined. We did an integrated clinicopathological and molecular analysis of primary ETMRs to define clinical phenotypes, and to identify prognostic factors of survival and key treatment modalities for this orphan disease.

Research

Twenty years of integrated disease surveillance and response in Sub-Saharan Africa: challenges and opportunities for effective management of infectious disease epidemics

This systematic review aimed to analyse the performance of the Integrated Disease Surveillance and Response strategy in Sub-Saharan Africa and how its implementation has embraced advancement in information technology, big data analytics techniques and wealth of data sources.

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Antimicrobial susceptibility testing profiles of ESBL-producing Enterobacterales isolated from hospital and community adult patients in Blantyre, Malawi

There is a paucity of data on antimicrobial resistance (AMR) in Malawi. Here we present a study of AMR of extended-spectrum β-lactamases-producing Enterobacterales (ESBL-E) isolated from hospital and community settings in Blantyre, Malawi.

Research

International links between Streptococcus pneumoniae vaccine serotype 4 sequence type (ST) 801 in Northern European shipyard outbreaks of invasive pneumococcal disease

Pneumococcal disease outbreaks of vaccine preventable serotype 4 sequence type (ST)801 in shipyards have been reported in several countries. We aimed to use genomics to establish any international links between them.

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Personal network inference unveils heterogeneous immune response patterns to viral infection in children with acute wheezing

Human rhinovirus (RV)-induced exacerbations of asthma and wheeze are a major cause of emergency room presentations and hospital admissions among children. Previous studies have shown that immune response patterns during these exacerbations are heterogeneous and are characterized by the presence or absence of robust interferon responses.

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Evaluation of protocol amendments to the Environmental Determinants of Islet Autoimmunity (ENDIA) study during the COVID-19 pandemic

Liz Davis MBBS FRACP PhD Co-director of Children’s Diabetes Centre Co-director of Children’s Diabetes Centre Professor Davis is a paediatric

Research

Spitz Melanoma of Childhood With A Novel Promoter Hijacking Anaplastic Lymphoma Kinase (C2orf42-ALK) Rearrangement

We present the case of a prepubescent man of African descent who developed a spitzoid melanocytic proliferation showing evidence of a novel promoter hijacking ALK-C2orf42 rearrangement, with atypical histology, clinically apparent metastatic disease, and abnormal cytogenetic findings, representing a rare genuine case of "Spitz melanoma of childhood."

Research

Maternal immune-related conditions during pregnancy may be a risk factor for neuropsychiatric problems in offspring throughout childhood and adolescence

Emerging research suggests that maternal immune activation (MIA) may be associated with an increased risk of adverse neurodevelopmental and mental health outcomes in offspring. Using data from the Raine Study, we investigated whether MIA during pregnancy was associated with increased behavioral and emotional problems in offspring longitudinally across development.

Research

Get it right, make it easy, see it all: Viewpoints of autistic individuals and parents of autistic individuals about the autism diagnostic process in Australia

The clinical process for being evaluated for an autism diagnosis is often time consuming and stressful for individuals and their caregivers. While experience of and satisfaction with the diagnostic process has been reviewed in the literature, few studies have directly investigated the viewpoints of individuals diagnosed with autism and caregivers of autistic individuals about what is important in the autism diagnostic process.

Research

Mapping the landscape of chromatin dynamics during naïve CD4+ T-cell activation

T-cell activation induces context-specific gene expression programs that promote energy generation and biosynthesis, progression through the cell cycle and ultimately cell differentiation. The aim of this study was to apply the omni ATAC-seq method to characterize the landscape of chromatin changes induced by T-cell activation in mature naïve CD4+ T-cells.