Molecular genetic analysis of candidate genes for glutaric aciduria type II in a cohort of patients from Queensland, Australia.

Glutaric aciduria type II (GAII) is a heterogeneous genetic disorder affecting mitochondrial fatty acid, amino acid and choline oxidation. Clinical manifestations vary across the lifespan and onset may occur at any time from the early neonatal period to advanced adulthood. Historically, some patients, in particular those with late onset disease, have experienced significant benefit from riboflavin supplementation.

Peripherally inserted central catheter design and material for reducing catheter failure and complications.

Background: Peripherally inserted central catheters (PICCs) facilitate diagnostic and therapeutic interventions in health care. PICCs can fail due to infective and non-infective complications, which PICC materials and design may contribute to, leading to negative sequelae for patients and healthcare systems.

Objectives: To assess the effectiveness of PICC material and design in reducing catheter failure and complications.

Aetiology and epidemiology of surgical vitreoretinal presentations in an Australian paediatric population: A seven-year retrospective study.

Background: Paediatric vitreoretinal pathology is distinct from adult cases in both presentation and surgical planning. Here we aim to report the aetiology and epidemiology in children 0-18 years requiring vitreoretinal surgery at a major tertiary paediatric hospital in Queensland, Australia.

Methods: Retrospective review of cases requiring vitreoretinal surgery between May 2015 and October 2022 was conducted.

Eumycetoma causative agents: A systematic review to inform the World Health Organization priority list of fungal pathogens.

The World Health Organization, in response to the growing burden of fungal disease, established a process to develop a fungal priority pathogens list. This systematic review aimed to evaluate the epidemiology and impact of eumycetoma. PubMed and Web of Science were searched to identify studies published between 1 January 2011 and 19 February 2021.

Dietary intervention rescues a bone porosity phenotype in a murine model of Neurofibromatosis Type 1 (NF1).

Neurofibromatosis type 1 (NF1) is a complex genetic disorder that affects a range of tissues including muscle and bone. Recent preclinical and clinical studies have shown that Nf1 deficiency in muscle causes metabolic changes resulting in intramyocellular lipid accumulation and muscle weakness. These can be subsequently rescued by dietary interventions aimed at modulating lipid availability and metabolism.

Diagnosis of Post-Hematopoietic Stem Cell Transplantation Bronchiolitis Obliterans Syndrome in Children: Time for a Rethink?

Hematopoietic stem cell transplantation (HSCT) is undertaken in children with the aim of curing a range of malignant and nonmalignant conditions. Unfortunately, pulmonary complications, especially bronchiolitis obliterans syndrome (BOS), are significant sources of morbidity and mortality post-HSCT. Currently, criteria developed by a National Institutes of Health (NIH) working group are used to diagnose BOS in children post-HSCT.

Wellbeing in Children and Adolescents with Fontan Physiology.

Objective: To assess health-related quality of life (HRQOL) and global quality of life (QOL) in children and adolescents with Fontan physiology and identify key predictors influencing these outcomes.

Study Design: Cross-sectional analysis of 73 children and adolescents enrolled in the Australia and New Zealand Fontan Registry aged 6-17 years, at least 12 months post-Fontan operation. Assessments included the Pediatric Quality of Life Inventory (PedsQL) for HRQOL and a developmentally-tailored visual analogue scale (0-10) for global QOL, along with validated sociodemographic, clinical, psychological, relational, and parental measures.

Cough in Protracted Bacterial Bronchitis and Bronchiectasis.

Chronic cough in children is a common condition for which patients seek medical attention, and there are many etiologies. Of the various causes of chronic cough in children, protracted bacterial bronchitis (PBB) is one of the commonest causes, and bronchiectasis is one of the most serious. Together, they lie on different ends of the spectrum of chronic wet cough in children.

The role of critical care nurses in organ and tissue donation: A position statement of the Australian College of Critical Care Nurses.

Introduction: Australian organ and tissue donation rates are low compared to other countries. Acknowledging that donation practices vary across Australia, the Australian College of Critical Care Nurses supported the development of a position statement to explicate critical care nurses' role in supporting organ and tissue donation. Several Australian peak professional organisations provide guidance to inform and support organ and tissue donation.

Detecting Hearing Loss Through Targeted Surveillance: Risk Registry and Surveillance Timeframe Recommendations.

Purpose: The purpose of this study was to inform the revision of a targeted surveillance risk registry by identifying which risk factors predict postnatally identified hearing loss (PNIHL) in children who pass newborn hearing screening and to determine whether hearing surveillance beyond the age of 1 year is warranted.

Method: We used retrospective analysis of the audiological outcomes of children born in the state of Queensland, Australia, between January 1, 2010, and December 31, 2019, who passed the newborn hearing screen with risk factors.

Results: Approximately one third of children were lost to follow-up and could not be included in the analysis.

Neurodevelopmental outcome and quality of life in children admitted to the paediatric intensive care unit: A single-centre Australian cohort study.

Background: The development of new morbidities has become increasingly identified in paediatric critical care medicine. To date, there has been limited research of long-term outcomes following paediatric critical illness in Australia.

Objectives: The objective of this study was to quantify neurodevelopmental impairments in children following paediatric intensive care unit (PICU) discharge and their association with health-related quality of life (HRQoL).

"It's more than just a conversation about the heart": exploring barriers, enablers, and opportunities for improving the delivery and uptake of cardiac neurodevelopmental follow-up care.

Introduction: Surveillance, screening, and evaluation for neurodevelopmental delays is a pivotal component of post-surgical care for children with congenital heart disease (CHD). However, challenges exist in implementing such neurodevelopmental follow-up care in international practice. This study aimed to characterise key barriers, enablers, and opportunities for implementing and delivering outpatient cardiac neurodevelopmental follow-up care in Australia.

Long-term outcomes of early exposure to repeated general anaesthesia in children with cystic fibrosis (CF-GAIN): a multicentre, open-label, randomised controlled phase 4 trial.

Background: Long-term effects of early, recurrent human exposure to general anaesthesia remain unknown. The Australasian Cystic Fibrosis Bronchoalveolar Lavage (ACFBAL) trial provided an opportunity to examine this issue in children randomly assigned in infancy to either repeated bronchoalveolar-lavage (BAL)-directed therapy with general anaesthesia or standard care with no planned lavages up to 5 years of age when all children received BAL-directed therapy under general anaesthesia.

Methods: This multicentre, randomised, open-label phase 4 trial (CF-GAIN) used the original ACFBAL trial randomisation at 3·6 months (SD 1·6) to BAL-directed therapy or standard-care groups to assess the impact of general anaesthesia exposures over early childhood.

Electroconvulsive therapy in a tertiary Australian mental health facility between 2009 and 2020.

Background: Despite electroconvulsive therapy being one of the most effective treatments in psychiatry, few studies report trends in the provision of electroconvulsive therapy over time. This study aims to investigate the use of electroconvulsive therapy between 2009 and 2020 in an Australian public tertiary mental health facility, and to describe the electroconvulsive therapy patient population and change in courses of treatment.

Methods: Routinely collected data for 677 patients who received 1669 electroconvulsive therapy courses of treatment at an Australian public tertiary mental health facility between 2009 and 2020 were examined.

Twenty-four Month Outcomes of Extended- Versus Standard-course Antibiotic Therapy in Children Hospitalized With Pneumonia in High-risk Settings: A Randomized Controlled Trial.

Background: Pediatric community-acquired pneumonia (CAP) can lead to long-term respiratory sequelae, including bronchiectasis. We determined if an extended (13-14 days) versus standard (5-6 days) antibiotic course improves long-term outcomes in children hospitalized with CAP from populations at high risk of chronic respiratory disease.

Methods: We undertook a multicenter, double-blind, superiority, randomized controlled trial involving 7 Australian, New Zealand, and Malaysian hospitals.

Reduced Protein Import via TIM23 SORT Drives Disease Pathology in TIMM50-Associated Mitochondrial Disease.

TIMM50 is a core subunit of the TIM23 complex, the mitochondrial inner membrane translocase responsible for the import of pre-sequence-containing precursors into the mitochondrial matrix and inner membrane. Here we describe a mitochondrial disease patient who is homozygous for a novel variant in and establish the first proteomic map of mitochondrial disease associated with TIMM50 dysfunction. We demonstrate that TIMM50 pathogenic variants reduce the levels and activity of endogenous TIM23 complex, which significantly impacts the mitochondrial proteome, resulting in a combined oxidative phosphorylation (OXPHOS) defect and changes to mitochondrial ultrastructure.

Further delineation of short-chain enoyl-CoA hydratase deficiency in the Pacific population.

Short-chain enoyl-coA hydratase (SCEH) deficiency due to biallelic pathogenic ECHS1 variants was first reported in 2014 in association with Leigh syndrome (LS) and increased S-(2-carboxypropyl)cysteine excretion. It is potentially treatable with a valine-restricted, high-energy diet and emergency regimen. Recently, Simon et al.

Liver and pancreatic-targeted interleukin-22 as a therapeutic for metabolic dysfunction-associated steatohepatitis.

Metabolic dysfunction-associated steatohepatitis (MASH) is the most prevalent cause of liver disease worldwide, with a single approved therapeutic. Previous research has shown that interleukin-22 (IL-22) can suppress β-cell stress, reduce local islet inflammation, restore appropriate insulin production, reverse hyperglycemia, and ameliorate insulin resistance in preclinical models of diabetes. In clinical trials long-acting forms of IL-22 have led to increased proliferation in the skin and intestine, where the IL-22RA1 receptor is highly expressed.

An Australian survey of health professionals' perceptions of use and usefulness of electronic medical records in hospitalised children's pain care.

Pain in hospitalised children is common, yet inadequately treated. Electronic medical records (EMRs) can improve care quality and outcomes during hospitalisation. Little is known about how clinicians use EMRs in caring for children with pain.

Wake Up Safe in the USA & International Patient Safety.

Patient safety is the most important aspect of anesthetic care. For both healthcare professionals and patients, the ideal would be no significant morbidity or mortality under anesthesia. Lessons from harm during healthcare can be shared to reduce harm and to increase safety.

Risk Factor Analysis for Growth Arrest in Paediatric Physeal Fractures-A Prospective Study.

Fractures through the physis account for 18-30% of all paediatric fractures, leading to growth arrest in up to 5.5% of cases. We have limited knowledge to predict which physeal fractures result in growth arrest and subsequent deformity or limb length discrepancy.