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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.
Defining rurality matters in healthcare. Evidence supports the singularity of the rural experience and its detrimental impact on health outcomes and, specifically, on mental health. Yet, no internationally accepted definition of 'rural' exists.
Malaria imposes a significant global health burden and remains a major cause of child mortality in sub-Saharan Africa. In many countries, malaria transmission varies seasonally. The use of seasonally-deployed interventions is expanding, and the effectiveness of these control measures hinges on quantitative and geographically-specific characterisations of malaria seasonality.
Remote Aboriginal communities in Australia are located on traditional lands holding deep cultural significance and meaning for residents. However, systemic inequity rooted in colonisation has driven persistent housing and health disparities, with inadequate environmental health conditions within homes and communities a prominent example.
Type 1 interferons (T1IFNs) are typically expressed in low concentrations under homeostatic conditions, but upon pathogenic insult or perturbation of the pathway, these critical immune signaling molecules can become either protectors from or drivers of pathology. While essential for initiating antiviral defense and modulating inflammation, dysregulation of T1IFN signaling can contribute to immunopathology, making it and its associated pathways prime targets for immune evasion and disruption by pathogens.
Globally, rates of children with physical and mental health problems are increasing. Health issues in early childhood often persist into adulthood, highlighting the need to ensure children are supported to flourish from the start of life.
Prebiotic dietary supplementation has been shown to improve glucose homeostasis in type 2 diabetes patients. The aim of this analysis was to determine whether pre-pregnancy body mass index (BMI) modifies the effect of prebiotic supplementation from mid-pregnancy on reducing the risk of gestational diabetes mellitus
Vaccine hesitancy and suboptimal vaccine uptake pose significant threats to public health, but modifiable psychological factors underpinning them are under-investigated. We examined the prevalence of spontaneous emotional mental imagery relating to infectious diseases and perinatal vaccines and its unique associations with vaccine hesitancy and uptake behaviour.
Functional studies of how early-life interventions shape the airway microbiome remain scarce. Here, we performed metagenomic sequencing of 704 longitudinal nasal swabs from infants with and without cystic fibrosis (CF) to construct and characterize a non-redundant gene atlas of the infant nasal microbiome. We aimed to determine how the nasal microbiome is perturbed by early therapies, as CF is commonly treated with inhaled hypertonic saline to improve mucociliary clearance.
Neonatal sepsis-induced cardiovascular dysfunction includes impaired myocardial function (which may be systolic and/or diastolic) and vasoregulatory failure (which may lead to vasodilation or vasoconstriction). The haemodynamic response in neonatal sepsis may therefore be hyperdynamic or hypodynamic, and the underlying pathophysiological mechanisms are heterogenous.