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Acute Rheumatic Fever Diagnostic Network (ARC Network) clinical recruitment protocol

Rheumatic heart disease, a major cause of morbidity and mortality in low- and middle-income countries, results from acute rheumatic fever (ARF), for which no diagnostic test currently exists. The ARF Diagnosis Collaborative Network (ARC Network) was established to address this gap by recruiting a rigorously phenotyped, globally representative cohort of children and adolescents with ARF and controls to support biomarker discovery.

A precision medicine approach to interpret a GATA4 genetic variant in a paediatric patient with congenital heart disease

Patients with congenital heart disease (CHD) are identified in 1% of live births. Improved surgical intervention means many patients now survive to adulthood, the corollary of which is increased mortality in the over-65-year-old congenital heart disease population. In the clinic, genetic sequencing increasingly identifies novel genetic variants in genes related to CHD.

A differentiated nasal epithelial cell model derived from children with acute wheeze and asthma

The airway epithelium is the primary structural and functional airway barrier and orchestrates innate immunity. Some children may have underlying epithelial vulnerabilities that contribute to the pathogenesis of acute wheeze and asthma.

The growth of rural and remote Aboriginal and Torres Strait Islander community laundries: an integrative scoping review

This article documents the establishment of community laundries in rural/remote Aboriginal and Torres Strait Islander communities between 2000-2024, with the aim to support synergistic planning, implementation and evaluation. 

Is targeted cytomegalovirus testing of infants feasible in Western Australia? An observational study

Congenital cytomegalovirus (cCMV) is a common infection at birth with the potential to cause significant and permanent morbidity, most commonly hearing loss. Targeted cCMV testing programmes use hearing loss as an indicator of an infant being at high risk of the infection and thereby can 'target' or focus testing on those at greatest risk. Australian and International guidelines recommend that high-risk infants be offered cCMV testing, yet across Australia, a formal testing system does not exist.

The impact of child self-regulation difficulties on parents: A qualitative study

The capacity for children to self-regulate is an important developmental task of early childhood, with caregivers playing an integral role in self-regulation development. While caregivers' emotions and behaviors are known to impact child self-regulatory capacity, the impact of child self-regulation difficulties on parents is less understood. 

Characterising commensal and pathogenic staphylococcal interactions with neonatal and adult blood

The abundant skin commensal, Staphylococcus epidermidis, is the leading cause of late-onset sepsis (LOS) in preterm infants but rarely causes infections in term infants and adults. Staphylococcal virulence mechanisms and the role of the preterm immune responses in driving these life-threatening infections remain poorly understood.

Six cases of ENPP1 pathogenic variants causing autosomal recessive hypophosphatemic rickets type 2 and generalized arterial calcification of infancy

Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) and generalized arterial calcification of infancy (GACI) occur secondary to biallelic ectonucleotide pyrophosphate/phosphodiesterase 1 (ENPP1) loss-of-function pathogenic variants. GACI is a life-threatening condition, often presenting in the neonatal period with heart failure and hypertension, caused by calcification of the media in large- and medium-sized arteries.

What is it like living with X-linked hypophosphatemia?: results from an Australian consumer survey

X-linked hypophosphatemia (XLH) is a rare, X-linked dominant condition with a high burden of both physical and psychosocial disease. This study aimed to describe the experience and burden of disease for children and adults living with XLH in Australia by inviting affected individuals and their carers to complete an online questionnaire. Of the 46 responses, half were completed by a person with XLH, and half by carers. Thirty percent were male, 33% were aged less than 18 yr.

Core Outcome Sets for Pediatric Perioperative Research: An International Stakeholder Engagement Exercise and Consensus Report from the Pediatric Perioperative Outcomes Group

dentifying the outcomes that matter in clinical research is important, especially those that matter to patients and their parents/guardians. Consistency in outcome reporting enables meaningful assessments of interventions and facilitates comparison of results across trials. The aim of this study was to develop core outcome sets for pediatric perioperative research.