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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.
The prevalence of impetigo and pharyngitis - which are both superficial group A streptococcus (GAS) infections that precede acute rheumatic fever - is poorly defined. Guidelines recommend the early diagnosis of both infections to prevent ARF; however, screening to enable the concurrent detection of these infections in high-risk populations has rarely been performed.
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.
Robust evaluation is critical for understanding and enhancing the impact of health promotion initiatives. However, many community-based organisations face challenges in planning and conducting evaluation due to limitations in knowledge, resources, and the applicability of existing evaluation frameworks. The Healthway Evaluation Framework, and its accompanying practical Measurement Toolkit, was designed to support evaluation planning, implementation, and reporting across diverse health promotion programs and settings.
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.
Perioperative anxiety is a common and distressing aspect of anaesthesia for many children, resulting in management challenges at the time of anaesthesia and potential physical and psychological adverse outcomes. We conducted this qualitative phenomenological study to explore the perspectives of children, parents and staff on perioperative anxiety in our institution. Planned recruitment was 20 each of children who had undergone elective anaesthesia, their parents and staff.
Despite growing evidence that parental work–family conflict (WFC) affects children’s emotional well-being, little is known about the multiple pathways underlying such effects. This study examines the association between parental WFC and children’s emotional well-being and the potential mediating role of parenting behaviors in this process.
Malaria remains a leading cause of morbidity and mortality and is responsible for over 0.5 million annual deaths globally. During the first two decades of this century, scale-up of a range of tools was associated with significant reductions in malaria mortality in the primary risk group, young African children.
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.
Invasive mould infection (IMI) is a major cause of morbidity and mortality in immunocompromised children. Outcomes for paediatric patients with IMI remain poor, due in part to the limitations of available diagnostic tools and therapeutic agents.