Search
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.
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 developing hippocampus is particularly sensitive to early environmental influences, including during pregnancy. This longitudinal neuroimaging study examined associations between prenatal maternal physical activity and depression, maternal education, and hippocampal development from early childhood to early adolescence.
Ambient heat exposure during pregnancy is associated with adverse outcomes, and adverse neurodevelopmental outcomes are an emerging concern. This scoping review synthesises human and animal evidence on the association between prenatal ambient heat exposure and poor neurodevelopmental outcomes.
Children and young people with type 1 diabetes (T1D) experience high rates of mental ill health and stress due to the emotional and cognitive energy required to manage their condition. Our team has codesigned Wellbeing T1D, a brief trauma-informed online intervention for adolescents living with T1D. This 5-week intervention will teach skills to promote problem solving, improve emotional regulation and promote helpful thinking and coping.
To evaluate the psychometric properties of the Quality of Life Inventory -Disability (QI-Disability) for individuals with Dravet syndrome (DS) or Lennox-Gastaut syndrome (LGS), two rare developmental and epileptic encephalopathy conditions.
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.
The risk of congenital anomalies following first-trimester medication exposure is an important indicator of medication safety during pregnancy. Retrospective cohort studies using routinely collected data are commonly used to assess this risk, yet methodological inconsistencies-such as how cohorts, exposures, timings and outcomes are defined-can compromise reproducibility and validity. This scoping review examined the methodologies used in retrospective cohort studies assessing the association between first-trimester prenatal medication exposure and congenital anomalies.
As the frequency of eating out-of-home among Australian families increases, concerns have arisen regarding the nutritional quality of Kids' Menus. This study investigated the views of food business owners and managers on Kids' Menus at sit-down venues, specifically factors influencing the choice of meals offered on Kids' Menus and potential initiatives for enhancing the nutritional quality of these menus.
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.