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A precision medicine approach to interpret a GATA4 genetic variant in a paediatric patient with congenital heart disease

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.

Repetitive negative thinking during pregnancy - The role of biased information seeking and negative prenatal expectations

Repetitive Negative Thinking (RNT) during pregnancy is a key risk factor for psychopathology in the perinatal period. However, the cognitive mechanisms underlying prenatal RNT remain poorly understood. Recent research has suggested that a tendency to volitionally seek negative rather than positive information (i.e., biased information seeking) may contribute to the formation of more negative prenatal expectations, which in turn predict elevated prenatal RNT.

Inoculation Theory and Sport, Exercise, and Physical Activity

Movement is at the core of human existence. For infants and children, exploratory movement offers a scaffold for important learning and development outcomes, and in adolescents and adults, regular activity is key for promoting good physical and mental health.

A differentiated nasal epithelial cell model derived from children with acute wheeze and asthma

The airway epithelium is the primary structural and functional airway barrier and orchestrates innate immunity. Some children may have underlying epithelial vulnerabilities that contribute to the pathogenesis of acute wheeze and asthma.

Protocol for a feasibility and acceptability trial of Bloom, a co-produced and co-facilitated parent group to enhance the quality of life and well-being of young autistic children

The autistic and autism communities have identified improving the quality of life and well-being of autistic people as a key priority. Despite this, to date, there are no evidence-based supports for autistic children which specifically focus on improvements in these areas.

Identifying Infants <32 Weeks' Gestation at Low Risk of Early-Onset Sepsis: A 10-Year Retrospective Study from Western Australia

Preterm infants are commonly treated with antibiotics on admission to the neonatal unit as part of routine care. We aimed to identify infants <32 weeks' gestation at low risk of early-onset sepsis (EOS) in whom antibiotics could be safely withheld.

Maternal and neonatal outcomes after infection with monkeypox virus clade I during pregnancy in DR Congo: a pooled, prospective cohort study

Monkeypox virus (MPXV) has been linked to vertical transmission, but systematic data are scarce. We aimed to describe the sociodemographic, clinical, and virological characteristics and assess the frequency and determinants of adverse outcomes in pregnant women with MPXV clade I infection. 

Prenatal ambient heat exposure and neurodevelopment: A scoping review of human and animal research

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.

Mapping facility-based tuberculosis preventive treatment provision in Ethiopia: a geospatial analysis

Tuberculosis (TB) remains a major public health challenge in Ethiopia, despite being a preventable disease. TB preventive treatment (TPT) is a critical intervention to prevent the progression from latent TB infection to active disease, particularly among household contacts of TB patients and people living with HIV due to weakened immunity. However, the initiation and completion rates of TPT at subnational and local levels have not been thoroughly investigated. This study aims to map facility-based TPT initiation and completion rates among household contacts of TB across Ethiopia.

A time-varying geospatial model of habitat suitability for Japanese encephalitis virus vectors and vertebrate hosts in Australia

In the austral summer of 2021-2022, Australia experienced an unprecedented Japanese encephalitis virus (JEV) outbreak, with detections over 3000 km south of previous occurrences. Given the limited knowledge of JEV transmission ecology in Australia, we developed geospatial models of transmission risk to support the public health response. We created time-varying habitat suitability models for suspected mosquito vectors and ardeid hosts using month-scaled occurrence and covariate data from 2000-2023.