Anti-VEGF therapy for proliferative diabetic retinopathy in Kearns-Sayre syndrome.

Purpose: Multiple mitochondrial syndromes, such as Kearns-Sayre, involve the concurrence of diabetes mellitus and inherited pigmentary retinopathy. It is rare, however, for proliferative disease to develop in these patients as existing inner retinal dysfunction is thought to be protective.

Methods: To our knowledge this is the first description of proliferative diabetic retinopathy (PDR) in Kearns-Sayre syndrome.

Efficacy of Therapeutic Hypothermia During Transport of Newborns With Perinatal Hypoxic-Ischaemic Encephalopathy: Experience From Newborn and Paediatric Transport Service, New South Wales.

Aim: To examine the efficacy of current non-servo-based cooling methods used by NETS NSW in treating hypoxic ischaemic encephalopathy (HIE) with therapeutic hypothermia (TH) in neonatal retrieval.

Methods: A retrospective observational study of infants treated with TH for HIE retrieved by NETS NSW from January 2017 to June 2020 inclusive. Primary outcomes were the proportion of neonates achieving TH within 6 h of life and maintaining temperature in a therapeutic range.

Rapid genomic testing in critically ill pediatric patients: Genetic counseling lessons from a national program.

Genetic counselors (GCs) face unique challenges in the acute care setting. Acute care environments-such as neonatal and pediatric intensive care units-are characterized by urgency, complexity, and rapid decision making. These settings require GCs to navigate a delicate balance between addressing the immediate clinical needs of patients and providing comprehensive genetic information to families, while demanding adaptation of existing skills for practice.

Shifts in seasonal influenza patterns in Australia during and after COVID-19: A comprehensive analysis.

Background: During the COVID-19 pandemic, seasonal influenza virus circulation was heavily suppressed worldwide. In Australia, since the virus re-emerged in 2022, shifts in seasonal influenza patterns have been observed. Both the 2022 and 2023 seasons started earlier than pre-pandemic norms and were categorised as moderate to severe, highlighting the renewed importance of prevention strategies for seasonal influenza.

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).

GLP-1RA based therapies in the young and old.

Purpose Of Review: Obesity is recognized as a "gateway" chronic, progressive disease of dysfunctional adipocytes. Glucagon-like peptide-1 receptor agonist-based therapies (GLP1BTs), including glucagon-like peptide-1 receptor agonists (GLP-1 RAs) with/without glucose-dependent insulinotropic polypeptide (GIP), have demonstrated clinically significant weight loss and health gains in adults, hence interest in using them in younger and older people. Therefore, reviewing the role of GLP1BTs in these populations is pertinent and timely.

The characterization of new de novo CACNA1G variants affecting the intracellular gate of Cav3.1 channel broadens the spectrum of neurodevelopmental phenotypes in SCA42ND.

Purpose: Missense de novo variants in CACNA1G, which encodes the Cav3.1 T-type calcium channel, have been associated with a severe, early-onset form of cerebellar disorder with neurodevelopmental deficits (SCA42ND). We explored a large series of pediatric cases carrying heterozygous variants in CACNA1G to further characterize genotype-phenotype correlations in SCA42ND.

Tailoring capsid-directed evolution technology for improved AAV-mediated CAR-T generation.

Chimeric antigen receptor (CAR) T cell (CAR-T) therapies present options for patients diagnosed with certain leukemias. Recent advances of the technology included a method to integrate the CAR into the T cell receptor alpha constant (TRAC) locus to take advantage of the endogenous promoter and regulatory elements for CAR expression. This method used adeno-associated viral (AAV) vectors based on AAV6 to deliver the donor template encoding the CAR construct.

Identifying Patient Safety Competencies for Healthcare Staff Treating Children and Young People With Intellectual Disability in Hospitals: A Delphi Study.

Background: Children and young people with intellectual disability have poor healthcare and are at risk of patient safety events due to lack of staff training and consensus on competencies for safe and quality care. For the adoption of reasonable adjustments in mainstream paediatric healthcare clinical competencies needed to be adapted to an existing patient safety education framework.

Methods: Thirteen experts in intellectual disability health and patient safety participated in an eDelphi survey aimed at reaching consensus on core competencies required of the paediatric healthcare workforce.

How primary and tertiary care services collaborate in urgent care delivery: an evaluation of general practice advice lines.

Background: To address the rising demand for urgent care and decrease hospital use, health systems are implementing different strategies to support urgent care patients (i.e. patients who would have typically been treated in hospital) in the community, such as general practitioner (GP) advice lines.

Considering severity in the design of reproductive genetic carrier screening programs: screening for severe conditions.

Reproductive genetic carrier screening (RGCS) provides information about people's chance of having children with certain genetic conditions, to inform reproductive decision making. RGCS at population scale requires a robust and streamlined program that is purposively designed and formally implemented to ensure equity and consistency. There are many considerations in selecting conditions, genes and variants for inclusion in RGCS, with severity of the genetic condition a key criterion.

Australian parents' experiences with adolescent age-based vaccinations during the COVID-19 pandemic.

Purpose: In Australia, adolescents are scheduled to receive vaccinations against diphtheria, tetanus, pertussis, human papillomavirus, and meningococcal disease, delivered via school vaccination programs and general practitioners (GPs). Public health measures implemented in response to the COVID-19 pandemic impacted uptake of some adolescent age-based vaccinations. Limited information is available on parents' approaches to vaccinating their adolescent children during the pandemic.

Antimicrobial resistance in Staphylococcus aureus and Enterococci spp. isolates from bloodstream infections in Australian children, 2013 - 2021.

Background: Rising proportions of antimicrobial resistance (AMR) have been observed in both Staphylococcus aureus and Enterococcus spp. isolates.

Methods: The Australian Group on Antimicrobial Resistance (AGAR) surveillance program captures clinical and microbiological data of isolates detected in blood cultures across Australia.

The impact of updated national guidelines for managing unintentional paediatric liquid paracetamol exposures: a retrospective poisons centre study.

Introduction: In 2015, Australia and New Zealand treatment guidelines recommended a 2 h paracetamol serum concentration for risk assessment of unintentional paracetamol liquid exposures. We assess our experience with this approach.

Methods: Retrospective case review of children <6 years-old with liquid paracetamol overdoses referred to a regional poisons information centre January 2017 to August 2022.

Associated impairments among children with cerebral palsy: findings from a cross-sectional hospital-based study in Vietnam.

Objective: This study aims to explore the associated impairments of cerebral palsy (CP) and their correlates among children with CP in Vietnam.

Design: Descriptive cross-sectional study using hospital-based surveillance.

Setting: National Children's Hospital, Hanoi, Vietnam between June and November 2017.

Antimicrobial resistance in Enterobacterales, Acinetobacter spp. and Pseudomonas aeruginosa isolates from bloodstream infections in Australian children, 2013-2021.

Background: Gram-negative bloodstream infections are associated with significant morbidity and mortality in children. Increasing antimicrobial resistance (AMR) is reported globally, yet efforts to track pediatric AMR at a national level over time are lacking.

Methods: The Australian Group on Antimicrobial Resistance (AGAR) surveillance program captures clinical and microbiological data of isolates detected in blood cultures across Australia.