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Research

The role of exome sequencing in childhood interstitial or diffuse lung disease

Children’s interstitial and diffuse lung disease (chILD) is a complex heterogeneous group of lung disorders. Gene panel approaches have a reported diagnostic yield of ~ 12%. No data currently exist using trio exome sequencing as the standard diagnostic modality.

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Suboptimal glycemic control in adolescents and young adults with type 1 diabetes from 2011 to 2020 across Australia and New Zealand: Data from the Australasian Diabetes Data Network registry

Competing challenges in adolescence and young adulthood can distract from optimal type 1 diabetes (T1D) self-management, and increase risks of premature morbidity and mortality. There are limited data mapping the glycemic control of people with T1D in this age group, across Australasia.

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Eye Abnormalities in Children with Fetal Alcohol Spectrum Disorders: A Systematic Review

Although eye abnormalities are reported in fetal alcohol spectrum disorders (FASD), no systematic review based on Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines has been undertaken.

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Identification of distinct functional thymic programming of fetal and pediatric human γδ thymocytes via single-cell analysis

Developmental thymic waves of innate-like and adaptive-like γδ T cells have been described, but the current understanding of γδ T cell development is mainly limited to mouse models.

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An infant mouse model of influenza-driven nontypeable Haemophilus influenzae colonization and acute otitis media suitable for preclinical testing of novel therapies

Nontypeable Haemophilus influenzae (NTHi) is a major otitis media (OM) pathogen, with colonization a prerequisite for disease development. Most acute OM is in children <5 years old, with recurrent and chronic OM impacting hearing and learning. Therapies to prevent NTHi colonization and/or disease are needed, especially for young children. Respiratory viruses are implicated in driving the development of bacterial OM in children.

Research

Local therapy with combination TLR agonists stimulates systemic anti-tumor immunity and sensitizes tumors to immune checkpoint blockade

W. Joost Ben Lizeth Rachael Tao Omar Lesterhuis Wylie Orozco Morales Zemek Wang Elaskalani BSc PhD BSc, MSc, PhD BSc (Hons), PhD PhD BSc, MSc, PhD

Research

The Changing Detection Rate of Respiratory Syncytial Virus in Adults in Western Australia between 2017 and 2023

The incidence of respiratory syncytial virus (RSV) in adults is inadequately defined and the impact of SARS-CoV-2-related non-pharmaceutical interventions (NPIs) is underexplored. Using laboratory data, we described the detection rate of RSV in adults ≥16 years in Western Australia (WA) between 2017 and 2023.

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Strep A: challenges, opportunities, vaccine-based solutions and economics

Streptococcus pyogenes (Strep A) is a leading cause of morbidity and mortality across the globe, annually causing hundreds of millions of cases of disease.

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Combining CRISPR-Cas9 and TCR exchange to generate a safe and efficient cord blood-derived T cell product for pediatric relapsed AML

Hematopoietic cell transplantation (HCT) is an effective treatment for pediatric patients with high-risk, refractory, or relapsed acute myeloid leukemia (AML). However, a large proportion of transplanted patients eventually die due to relapse. To improve overall survival, we propose a combined strategy based on cord blood (CB)-HCT with the application of AML-specific T cell receptor (TCR)-engineered T cell therapy derived from the same CB graft.

Research

Mutational rescue of the activity of high-fidelity Cas9 enzymes

Programmable DNA endonucleases derived from bacterial genetic defense systems, exemplified by CRISPR-Cas9, have made it significantly easier to perform genomic modifications in living cells. However, unprogrammed, off-target modifications can have serious consequences, as they often disrupt the function or regulation of non-targeted genes and compromise the safety of therapeutic gene editing applications.