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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.

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.

Understanding the Determinants of Use of the Australian Guide to Diagnosis of Fetal Alcohol Spectrum Disorder: Informing the Review, Development and Dissemination

The Australian Guide to the Diagnosis of fetal alcohol spectrum disorder (FASD), developed in 2016, is currently under review. This study aimed to understand how the Guide is used in practice and identify factors influencing its implementation.

Early childhood learning for lifelong health impact

Dr Jackie Davis BSc (Hons), PGradDipHlthProm, PhD Co-Director, ORIGINS 0478173989 jackie.davis@thekids.org.au Co-Director, ORIGINS Dr Jackie Davis

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. 

Commitments to Improve Food Environments in Western Australia: A Review of Local Government Public Health Plans

Food environments are significant drivers of obesity and diet-related diseases, making them key targets for interventions that support healthier food choices. The role of Local Government Authorities is pivotal in shaping community food environments. 

Ontogeny of plasma cytokine and chemokine concentrations across the first four months of human life in a Papua new Guinean cohort

Dynamic molecular changes in early life follow a robust ontogeny as the infant immune system adapts to the demands of its new environment. Studies of plasma immunomodulatory cytokines and chemokines have previously demonstrated ontogenetic patterns of immune development across the first week of life. However, how plasma cytokine and chemokines concentrations evolve over the first 4 months of life remains unknown. 

Development of the Breastfed Infant Oral Microbiome Is Associated with Concentrations and Intakes of Human Milk Oligosaccharides

Human milk oligosaccharides (HMOs) are bioactive carbohydrates abundant in human milk that shape the infant gut microbiome, yet their influence on the oral microbiome remains poorly understood. This study investigated associations between HMO concentrations and infant HMO intakes and the composition of the oral microbiome in predominantly and exclusively breastfed infants.

Genome-wide association meta-analysis of childhood ADHD symptoms and diagnosis identifies new loci and potential effector genes

We performed a genome-wide association meta-analysis of 290,134 attention-deficit/hyperactivity disorder symptom measures of 70,953 unique individuals from multiple raters, ages and instruments. 

The CoolCot trial: active methods of therapeutic hypothermia for newborns with hypoxic ischaemic encephalopathy during neonatal transport: a study protocol for a randomised controlled trial

Impaired oxygen delivery or blood flow to the brain around the time of birth can cause injury. Hypoxic ischaemic encephalopathy is a leading cause of death and disability in term and near-term infants.