Characteristics and management of eosinophilic esophagitis in Australasian children: a decade of experience.

Background: The frequency of EoE has been increasing in Northern Hemisphere cohorts, yet there is a scarcity of data in our region. Regional climatic factors, and lifestyle habits may influence the presentation of EoE, and appropriate management is crucial to prevent complications. WIth this is mind we undertook the first comprehensive multisite study of EoE in Australasian children.

A mixed-methods assessment of the Australasian Society of Genetic Counselors (ASGC) Mentor Program.

Purpose: In Australia and New Zealand, one third of genetic counselors have less than 5 years' experience. Sharing experienced practitioners' professional knowledge is needed as the profession grows. Formal mentoring is an important facilitator of career progression and shared knowledge.

Genetic counseling workforce diversity, inclusion, and capacity in Australia and New Zealand.

Purpose: To understand diversity, inclusion, and capacity of genetic counselors (GCs) in Australasia (Australia and New Zealand).

Methods: Individuals with or working toward a GC qualification in Australasia were invited to complete an online survey, between November 2022 and March 2023. Quantitative data were analyzed using descriptive statistics, 1-sample proportion -tests, 2-sample -tests, and χ tests.

A retrospective review of sildenafil in the Australia and New Zealand Fontan registry: indications and treatment responses.

Introduction: Rates of morbidity and mortality are high in the setting of Fontan physiology and effective medical therapies are not well-established. Clinical trials assessing phosophodiesterase-5-inhibitors, such as sildenafil, have not demonstrated major benefit in patients with a Fontan-type circulation but have only included stable, well-functioning people.

Methods: We sought to retrospectively characterize the people followed by the ANZ Fontan Registry prescribed sildenafil >30 days post Fontan-surgery.

A national Australian Congenital Heart Disease registry; methods and initial results.

Background: Although several National Data Registries for Congenital Heart Disease (CHD) exist, few are comprehensive and contemporary. A National Australian CHD Registry has been developed that aims to redress this by creating the first comprehensive data collection for CHD children and adults, initially across Australia.

Methods: We defined and collected a minimum dataset of demographics, diagnoses, and procedures from people with CHD presenting at participating quaternary CHD services Australia-wide.

Evaluation of the Queensland JEV vaccine program response to the 2022 Australian outbreak.

In 2022, the largest ever virgin soil outbreak of Japanese encephalitis (JE) occurred in Australia resulting in 45 reported human cases of JE, with seven fatalities. Japanese encephalitis virus (JEV) was detected in 84 piggeries across Australia. In response, states implemented targeted vaccination programs for those individuals at the highest risk of JEV exposure.

Radiographic and visual response to the type II RAF inhibitor tovorafenib in children with relapsed/refractory optic pathway glioma in the FIREFLY-1 trial.

Background: Due to their anatomical locations, optic pathway gliomas (OPGs) can rarely be cured by resection. Given the importance of preserving visual function, we analyzed radiological and visual acuity (VA) outcomes for the type II RAF inhibitor tovorafenib in the OPG subgroup of the phase 2 FIREFLY-1 trial.

Methods: FIREFLY-1 investigated the efficacy (arm 1, n=77), safety, and tolerability (arms 1/2) of tovorafenib (420 mg/m2 once weekly; 600 mg maximum) in patients with BRAF-altered relapsed/refractory pediatric low-grade glioma (pLGG).

Glucocorticoid dosing and implications for vaccination: Evolution of global definitions.

Despite widespread adoption of "high-dose" glucocorticoid definitions across international immunisation guidelines (i.e., prednisone-equivalent dosing >20 mg/day, or >2 mg/kg/day in children), the rationale remains unclear.

Caregiver Medication Information Needs and Medication Management Challenges in Pediatric Cancer: A Systematic Review.

The objective of this systematic review was to identify the medication information needs and preferences of caregivers of children with cancer and explore the medication management challenges these caregivers experienced. We conducted a systematic search of three databases (Cumulative Index to Nursing and Allied Health Literature, Embase, and Medline) for studies published from database inception to February 27, 2024, and assessed the medication information needs of caregivers of children with cancer. The methodological quality of qualitative studies was assessed using the Critical Appraisal Skills Programme Qualitative Research Checklist.

A scoping review of participant reported outcome measures assessed during live and simulated surgical procedures.

Background: The study aims to describe current use of participant-reported outcome measures (PROM) to assess stress in surgeons that may impact patient and surgeon wellbeing.

Methods: Medline, Embase, Cochrane library, and clinical trial registries were searched. Articles reporting PROM of stress in live or simulated surgery were included.

A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship.

Purpose: The Australian Genomics Cardiovascular Disorders Flagship was a national multidisciplinary collaboration. It aimed to investigate the feasibility of genome sequencing (GS) and functional genomics to resolve variants of uncertain significance (VUS) in the clinical management of patients and families with cardiomyopathies, primary arrhythmias, and congenital heart disease (CHD).

Methods: Between April 2019 and December 2021, 600 probands meeting cardiovascular disorder criteria from 17 cardiology and genetics clinics across Australia were enrolled in the Flagship and underwent GS.

Copper chelation redirects neutrophil function to enhance anti-GD2 antibody therapy in neuroblastoma.

Anti-disialoganglioside (GD2) antibody therapy has provided clinical benefit to patients with neuroblastoma however efficacy is likely impaired by the immunosuppressive tumor microenvironment. We have previously defined a link between intratumoral copper levels and immune evasion. Here, we report that adjuvant copper chelation potentiates anti-GD2 antibody therapy to confer durable tumor control in immunocompetent models of neuroblastoma.

A prospective study of acute propranolol overdose defining dose thresholds of severe toxicity (ATOM - 9).

Introduction: Propranolol is a beta-adrenoceptor blocking drug with sodium channel-blocking properties that can cause life-threatening toxicity in overdose. Limited research defines dose thresholds of toxicity. We aimed to investigate propranolol overdose and dose thresholds for severe toxicity.

Defining a core set of research and development priorities for virtual care in the post-pandemic environment: a call to action.

Objectives: To identify research and development priorities for virtual care following the coronavirus disease 2019 pandemic from the perspective of key stakeholders (patients, clinicians, informaticians and academics).

Design: Qualitative study using a modified nominal group technique.

Setting: Online semi-structured interviews and workshops held in November 2022 and February 2023.

Serious games vs. traditional tutorials in the pandemic: a randomised controlled trial.

Background And Aim: The COVID-19 pandemic necessitated the transition to online medical education. This study evaluated the efficacy of online case-based tutorials using a serious game tutorial [PlayMed™ (PM)], as compared to a traditional slideshow tutorial (TT).

Methods: We performed a prospective, mixed-methods, randomised controlled trial on undergraduate medical students during the COVID-19 pandemic, from May 2020 to January 2021.

Pediatric neuro-oncology: Highlights of the last quarter-century.

The last quarter century has heralded dramatic changes in the field of pediatric neuro-oncology, with the era defined by profound developments in the understanding of the biological underpinnings of childhood central nervous system (CNS) tumors and translational therapeutics. Although there have been momentous strides forward in biologic, diagnostic, therapeutic, and experimental domains, considerable challenges remain and CNS tumors remain the leading cause of pediatric cancer-related mortality. Here, we review the significant advances in the field of pediatric neuro-oncology over the last 25 years and highlight ongoing hurdles facing future progress.

Compassionate access to virus-specific T cells for adoptive immunotherapy over 15 years.

Adoptive T-cell immunotherapy holds great promise for the treatment of viral complications in immunocompromised patients resistant to standard anti-viral strategies. We present a retrospective analysis of 78 patients from 19 hospitals across Australia and New Zealand, treated over the last 15 years with "off-the-shelf" allogeneic T cells directed to a combination of Epstein-Barr virus (EBV), cytomegalovirus (CMV), BK polyomavirus (BKV), John Cunningham virus (JCV) and/or adenovirus (AdV) under the Australian Therapeutic Goods Administration's Special Access Scheme. Most patients had severe post-transplant viral complications, including drug-resistant end-organ CMV disease, BKV-associated haemorrhagic cystitis and EBV-driven post-transplant lymphoproliferative disorder.

Clinical characteristics and outcome of central nervous system tumors harboring NTRK gene fusions.

Purpose: TRK fusions are detected in less than 2% of central nervous system tumors. There are limited data on the clinical course of affected patients.

Experimental Design: We conducted an international retrospective cohort study of patients with TRK fusion-driven CNS tumors.

Inborn errors of immunity reveal molecular requirements for generation and maintenance of human CD4 IL-9-expressing cells.

Background: CD4 T cells play essential roles in adaptive immunity. Distinct CD4 T-cell subsets-T1, T2, T17, T22, T follicular helper, and regulatory T cells-have been identified, and their contributions to host defense and immune regulation are increasingly well defined. IL-9-producing T9 cells were first described in 2008 and appear to play both protective and pathogenic roles in human immunity.