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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.
Convalscent plasma (CP) was identified as a potential therapy for COVID-19 available early in the pandemic.
There is growing interest in how and why individuals adjust their goals in response to difficulties encountered during goal striving and the outcomes of such adjustments; however, research on these topics is fragmented across theoretical perspectives and life domains.
The World Health Organization recommends perennial malaria chemoprevention (PMC), generally using sulfadoxine-pyrimethamine (SP) to children at high risk of severe Plasmodium falciparum malaria. Currently, PMC is given up to age two in perennial transmission settings. However, no recommendation exists for perennial settings with seasonal variation in transmission intensity, recently categorized as 'sub-perennial'.
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.
Otitis media (OM), or middle ear infection, is one of the most common childhood illnesses globally. In Australia, OM remains a leading cause of antibiotic prescriptions in children, despite growing awareness of antimicrobial resistance (AMR) and the need for stewardship. Preventing OM not only reduces the burden of disease but also plays a critical role in curbing unnecessary antibiotic use and slowing the rise of AMR.
Asthma affects more than 300 million people worldwide and is frequently associated with other medical conditions in adults, including chronic obstructive pulmonary disease, ischaemic heart disease, and stroke. Despite the huge burden, there has been little progress toward prevention and cure, possibly related to a one-size-fits-all approach.
The Moombaki Research team developed a pilot Cultural Integrity Audit (CIA) that was co-designed with Aboriginal elders and educators as a tool for school leaders to measure the extent of culturally safe and responsive education at three test sites in Perth (Boorloo), Western Australia. This article analyses the political and social contexts and experiences of implementing the CIA as a tool – including the commitment, attitudes and values of school leaders.
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.