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Genome-wide association meta-analysis of childhood ADHD symptoms and diagnosis identifies new loci and potential effector genes

We performed a genome-wide association meta-analysis of 290,134 attention-deficit/hyperactivity disorder symptom measures of 70,953 unique individuals from multiple raters, ages and instruments. 

Ontogeny of plasma cytokine and chemokine concentrations across the first four months of human life in a Papua new Guinean cohort

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. 

Development of the Breastfed Infant Oral Microbiome Is Associated with Concentrations and Intakes of Human Milk Oligosaccharides

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.

Exploring healthcare providers’ perspectives on the factors that facilitate primary health care access among Aboriginal and Torres Strait Islander young people

Aboriginal and Torres Strait Islander young people aged 15-24 years of age often encounter challenges accessing and utilising primary health care (PHC). Providing health care responsive to the needs of Aboriginal and Torres Strait Islander young people requires the active involvement of healthcare providers (HCPs), who play a central role in healthcare delivery. This study explored perspectives of HCPs working in urban Aboriginal and Torres Strait Islander Community-Controlled Health Organisations (ATSICCHOs) on the factors that facilitate Aboriginal and Torres Strait young people accessing and utilising PHC services.

Atopy-related immune profiles are subject to genetic influence as evaluated using school-aged twin pairs

The interaction of genetic and environmental contributions to immunological traits and their association with atopic disease remain unclear. Flow cytometry and in vitro cytokine responses were used to characterize immune profiles from 93 school-aged twin pairs. Using an established twin pair analytical strategy, the genetic and environmental influences on immunological traits were evaluated, along with their association with atopy. Our findings suggest strong genetic influence on several traits, particularly B cell abundance. In contrast, cytokine responses from in vitro stimulations appeared mainly shaped by environmental exposures.

‘People don't trust those pieces of paper that are provided’: A qualitative study of cultural planning and outsourced out-of-home care services in Western Australia

Aboriginal and Torres Strait Islander children continue to be removed at high rates from their families by child protection services, placing them at elevated risk of adverse long-term life outcomes. Cultural connection in out-of-home care is essential for mitigating the impacts of trauma from removal, emphasizing the importance of ensuring that cultural planning is rigorously undertaken. This article explores the provision of cultural plans in an era where out-of-home care services are outsourced by government, but where government holds onto the responsibility for developing cultural plans for children in care.

The CoolCot trial: active methods of therapeutic hypothermia for newborns with hypoxic ischaemic encephalopathy during neonatal transport: a study protocol for a randomised controlled trial

Impaired oxygen delivery or blood flow to the brain around the time of birth can cause injury. Hypoxic ischaemic encephalopathy is a leading cause of death and disability in term and near-term infants.

Is targeted cytomegalovirus testing of infants feasible in Western Australia? An observational study

Congenital cytomegalovirus (cCMV) is a common infection at birth with the potential to cause significant and permanent morbidity, most commonly hearing loss. Targeted cCMV testing programmes use hearing loss as an indicator of an infant being at high risk of the infection and thereby can 'target' or focus testing on those at greatest risk. Australian and International guidelines recommend that high-risk infants be offered cCMV testing, yet across Australia, a formal testing system does not exist.

An Old Story Back: Human Milk Antibodies' Protective Roles Against Allergy Development

Human milk is a rich source of immunomodulatory factors that influence the development of the infant immune system, including susceptibility to allergic diseases. Among these components, milk antibodies have been extensively studied for their role in protecting against infections; however, their potential contribution to allergy prevention may be equally important. The mechanisms of protection include allergen exclusion, enhanced and targeted antigen presentation, immune modulation via shaping of the infant gut microbiome, and direct regulation of gut immune responses. 

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.