Outcomes of Fontan operation in patients with conotruncal anomalies from Australia and New Zealand Fontan Registry: a review of 1835 patients.

Objectives: The impact of conotruncal anomalies (CTAs), including tetralogy of Fallot, truncus arteriosus, ventriculo-arterial discordance, double outlet right ventricle (DORV), and interrupted aortic arch type B, on long-term outcomes remains poorly described in the Fontan cohort. We sought to review the outcomes of Fontan patients with conotruncal anomalies in Australia and New Zealand.

Methods: We reviewed the data from 1835 patients who underwent a Fontan operation between 1975 and 2023 from the Australia and New Zealand Fontan Registry.

Infantile Pasteurella multocida Meningitis: Case Report and Review of the Literature.

Background: Pasteurella multocida is a rare cause of deep-seated pediatric infections including osteomyelitis and meningitis. We report a case of P. multocida meningitis from Queensland, with a comprehensive review of literature.

Evaluation and Management of Chronic Kidney Disease: Synopsis of the Kidney Disease: Improving Global Outcomes 2024 Clinical Practice Guideline.

Description: The Kidney Disease: Improving Global Outcomes (KDIGO) organization updated its existing clinical practice guideline in 2024 to provide guidance on the evaluation, management, and treatment of chronic kidney disease (CKD) in adults and children who are not receiving kidney replacement therapy.

Methods: The KDIGO CKD Guideline Work Group defined the scope of the guideline and determined topics for systematic review. An independent Evidence Review Team systematically reviewed the evidence and graded the certainty of evidence for each of the review topics.

Parent Attitudes to Research Without Prior Consent in Two Pediatric Emergency Clinical Trials in Australia: A Qualitative Study of Transcripts From 2017.

Objectives: Research in critically ill children poses challenges in acquiring prospective informed consent. International ethical guidelines generally have provisions to perform research without prior consent (RWPC) in circumstances where consent is not feasible, but there is a paucity of data regarding the community acceptance of this process. The objectives of the current study were to explore the attitudes and experiences of parents of children enrolled into trials to determine understanding and acceptability of RWPC to parents of children involved.

Venetoclax Combined With Chemotherapy in Pediatric and Adolescent/Young Adult Patients With Relapsed/Refractory Acute Lymphoblastic Leukemia.

Background: Acute lymphoblastic leukemia (ALL) is the most common childhood cancer, and although many patients respond to induction therapy, those who relapse or have refractory disease face a poor prognosis. Venetoclax has promising preclinical and clinical activity in ALL. Here, we report the safety and preliminary efficacy of venetoclax combined with chemotherapy in pediatric and adolescent/young adult patients with relapsed/refractory ALL.

Ureteric fibroepithelial polyps in children: Retrospective study and systematic review of a rare urological presentation.

Background: Fibroepithelial polyps are rare, benign lesions of mesodermal origin that have been reported in the genitourinary, oral, auditory and respiratory systems. Ureteric fibroepithelial polyps are extremely rare, with less than 200 cases reported in children over the past 20 years. The purpose of this study is to present a retrospective study and systematic literature review of children with fibroepithelial polyps.

Expert consensus and recommendations for Healthcare-Associated Infection surveillance in Queensland, Australia: A modified Delphi study.

Background: Healthcare-associated infections (HAIs) continue to contribute significantly to Australia's burden of disease. In Queensland, varied surveillance protocols exist contributing to unnecessary complexity. With end-user partners, we defined a minimum dataset to support the public reporting of HAI surveillance data.

Hospital-Acquired Complications in Critically Ill Children and PICU Length of Stay, Duration of Respiratory Support, and Economics: Propensity Score Matching in a Single-Center Cohort, 2015-2020.

Objectives: To identify the health and economic costs of hospital-acquired complications (HACs) in children who require PICU admission.

Design: Propensity score matched cohort study analyzing routinely collected medical and costing data collected by the health service over 6 years (2015-2020).

Setting: Tertiary referral PICU in Queensland, Australia.

The use and experience of the national disability insurance scheme for Australians with skeletal dysplasia: a mixed-methods study.

Background: Skeletal dysplasias are rare disorders affecting bone growth and development that impact functional performance. In Australia, the National Disability Insurance Scheme (NDIS) was rolled out in 2016 to support individuals with disabilities access reasonable and necessary supports to promote independence and quality of life. Anecdotally, Australians with skeletal dysplasias report challenges with accessing and using the NDIS but this has not previously been reported in the literature.

Tethered cord syndrome in a paediatric patient with KBG syndrome.

KBG syndrome is a rare genetic condition caused by mutations, often presenting with distinctive syndromic features, including macrodontia and skeletal anomalies. This case highlights a teenage boy with KBG syndrome presenting with tethered cord syndrome (TCS)-a progressive condition where spinal cord fixation restricts movement-causing motor, sensory and urological symptoms.The patient presented with leg stiffness, gait changes and bowel and bladder symptoms, initially misdiagnosed as catatonia.

Point-Of-Care Ultrasound in Emergency Departments in Australia/New Zealand: An Emergency Physician's Perspective.

This brief overview of the current state of clinician performed focused ultrasound (Emergency PoCUS) by emergency practitioners in Australia/New Zealand (ANZ) has touched on its history, scope of practice both mandated and context-dependent, complex embedding in clinical diagnostic reasoning and range of governance issues. It is the author's hope that an ongoing understanding and interplay between the three professional groups most closely involved in the use of ultrasound to improve patient care and health-care flow can continue to work closely together for the ultimate benefit of patients in multiple contexts in ANZ and beyond.

Your C-Arm May Be Dose Optimised but Is Your Surgical Procedure? The Evaluation and Dose Optimisation of Positioning Aids Used in Paediatric Image Guided Surgery.

Introduction: Positioning aids are frequently used in image guided surgery (IGS). This study evaluates the impact of positioning aids on radiation dose and image quality (IQ) in IGS and the potential for dose optimised imaging via the choice of positioning aid type selected for clinical use.

Methods: Foam and gel positioning aids were evaluated in this study.

Emergency department presentations related to asthma and allergic diseases in Central Queensland, Australia: a comparative analysis between First Nations Australians and Australians of other descents.

Objective: To examine the overall incidence rate and trends in emergency department (ED) presentations related to asthma and allergic diseases in regional Australia with a particular focus on First Nations Australians.

Design: A retrospective analysis of data from the Emergency Department Information System.

Setting: This study used data from 12 public hospitals in Central Queensland, Australia, a region encompassing regional, rural and remote outback areas.

Breaking Away From Breaking Bad News: Rethinking the Doctor-Patient Interaction.

Effective communication is a critical skill for physicians, taught from the early stages of medical training. Breaking bad news is perhaps one of the most challenging aspects of medical communication. Parents of children with genetic syndromes often have a more complex and nuanced view of their children's lives, beyond the simplicity which a 'breaking bad news' framework allows.

Colonic transit studies and colonic manometry in pediatric constipation.

Objectives: In a subgroup of children with refractory constipation, colonic function investigations, such as colonic transit scintigraphy (CS) and colonic manometry (CM), are used to define the underlying pathophysiologic mechanisms. There are limited studies comparing colonic transit and contractile function. We aimed to correlate CS and CM and assess whether specific manometric patterns might predict the luminal transit findings.

Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathy.

Purpose: Heterozygous pathogenic variants in SPTAN1 cause a diverse spectrum of neurogenetic disorders ranging from peripheral and central nervous system involvement to complex syndromic presentations. We set out to investigate the role of SPTAN1 in genetically unsolved hereditary myopathies.

Methods: Through international collaboration we identified 14 families with distal weakness and heterozygous SPTAN1 loss-of-function variants.

Development and application of multivalent nanobody-functionalized plasmonic probes in SERS sensing platforms.

Surface-enhanced Raman scattering (SERS) immunoassays have emerged as highly sensitive, multiplexed analytical techniques for detecting protein biomarkers. Traditional SERS immunoassays typically rely on antibody-based SERS probes for target protein detection; however, it is challenging to obtain antibodies that are both highly effective at identifying natural proteins and suitable for SERS probe conjugation. Herein, we engineer a MultiValent Probe (MVP), consisting of multivalent nanobodies as the protein-targeting ligand to provide improved binding avidity and Raman reporter-coated gold-silver alloy nanoboxes for single-particle signal readouts.

Fifteen-minute consultation: Approach to recurrent cutaneous and ophthalmic herpes simplex virus infection.

Herpes simplex virus (HSV) infection in children is a common and challenging disease characterised by frequent misdiagnosis, a variety of treatment protocols and frequent recurrences from latent infection. With potential consequences such as pain, disfigurement, self-esteem issues, school exclusion and vision loss in eye disease, early diagnosis, informed management and appropriate interventions to prevent recurrences are essential.Management of HSV disease typically involves the use of oral antivirals for cutaneous disease and a combination of oral and topical treatment for eye disease.

X-Linked Hypophosphataemia and Burosumab: A Systemic Disease With a New Treatment.

X linked hypophosphataemia (XLH) is a systemic, chronic condition that significantly impairs quality of life. In XLH, a phosphate regulating endopeptidase homologue X-linked (PHEX) gene mutation leads to excess fibroblast growth factor 23 (FGF23), causing hypophosphataemia and subsequent rickets, lower limb deformity, pain and other sequelae, however there are likely other non-FGF23 mediated mechanisms contributing to disease. Burosumab is an FGF23 inhibiting monoclonal antibody that has been shown to be significantly more effective in treating X linked hypophosphataemia than previously available treatment ("conventional therapy" with oral phosphate and active vitamin D).

Telehealth Programme for the Education and Enrichment of Relational Skills (PEERS) for adolescents with acquired and congenital brain injuries: a protocol for mixed-methods randomised trial.

Introduction: For adolescents with brain injury, challenges with social function often persist into adulthood, impacting social participation and quality of life. The Programme for the Education and Enrichment of Relational Skills (PEERS) is a manualised group-based intervention with preliminary evidence demonstrating improved social knowledge and participation for adolescents with acquired brain injury or cerebral palsy when delivered face to face. The recent COVID-19 pandemic and challenges for families living outside metropolitan centres to access the programme suggest a telehealth delivered PEERS should be explored.

Functional performance and symptomatology of adults with skeletal dysplasia across self-care, mobility, and cognition-a cross-sectional study.

Individuals with skeletal dysplasia (SD) experience physical challenges in performing everyday activities as a result of their altered biomechanics and systemic comorbidities. The purpose of this study was to objectively assess functional performance and identify symptomatology across self-care, mobility, and cognitive tasks among adults with SD. The secondary aim was to describe any differences in performance between individuals with proportionate forms of SD compared with those with disproportionate forms.

Global tonsillectomy practice patterns - A survey study of pediatric otolaryngologists.

Objective: There is variation in surgical techniques and postoperative management of tonsillectomy globally. Our objective was to consolidate international similarities and differences in tonsillectomy management by pediatric otolaryngologists.

Methods: This cross-sectional survey study was conducted from April 4 to May 16, 2024.

Are your kidneys Ok? Detect early to protect kidney health.

Early identification of kidney disease can protect kidney health, prevent kidney disease progression and related complications, reduce cardiovascular disease risk, and decrease mortality. We must ask "Are your kidneys ok?" using serum creatinine to estimate kidney function and urine albumin to assess for kidney and endothelial damage. Evaluation for causes and risk factors for chronic kidney disease (CKD) includes testing for diabetes and measurement of blood pressure and body mass index.