Skip to content

Search

Perspectives on the origin and therapeutic opportunities in Down syndrome-associated leukemia

It is now well accepted that germline or de novo genetic alterations predispose to cancer development, especially during childhood. Among them, constitutive trisomy 21, also known as Down syndrome (DS), has been shown to predispose to acute leukemia affecting both the myeloid (ML-DS) and lymphoid (DS-ALL) lineages. ML-DS is associated with a good prognosis compared to children without DS, due in part to a higher sensitivity to conventional chemotherapy.

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.

‘Feeling like you can't do anything because you don't know where to start’—Parents' Perspectives of Barriers and Facilitators to Accessing Early Detection for Children at Risk of CP

Early detection of cerebral palsy (CP) risk is possible from 12 weeks corrected gestational age (CGA) using standardised assessments; however, up to half of children at risk are not referred early, missing out on early intervention. We investigated the barriers and facilitators to accessing early intervention from the perspective of parents of children who did not receive services by 6 months CGA.

Prioritizing high-risk populations for soil-transmitted helminth control in the Western Pacific Region

To achieve targets set within the 2030 Sustainable Development Agenda and the 2021–2030 Neglected Tropical Diseases (NTD) Roadmap, the World Health Organization identify the need for improved data analytics to inform NTD control programs. 

Cochlear implantation in children under 12 months of age: surgical outcomes and considerations—a Western Australian perspective

The introduction of universal newborn hearing screening has allowed for early identification and diagnosis of children with severe-profound hearing loss. This study aims to provide the first Western Australian perspective on the surgical feasibility and safety of cochlear implantation before 12 months of age.

Involving young people with lived experience in advancing mental health science: an exploratory qualitative study from Pakistan and India

Meaningful involvement of young People with Lived Experience (PWLE) in co-designing youth mental health interventions has been much emphasized globally. However, there is a scarcity of evidence on involving PWLE of mental health problems in designing, implementing and evaluating mental health interventions, especially in Low- and Middle-Income Countries.

Resilience and mental health among care leavers: Role of social inclusion, self-determination, and independent living skills

Young people transitioning from out-of-home care (OHC) frequently experience poor mental health and resilience due to adverse childhood experiences (ACEs). However, there is limited understanding of the factors that mediate and moderate these outcomes. This is the first study to integrate linked administrative and longitudinal data to examine the mediation and moderation effects of placement stability, independent living skills (ILS), social inclusion, and self-determination when examining the association between ACEs and care status on mental health and resilience.

Longitudinal Profiling of the Human Milk Microbiome from Birth to 12 Months Reveals Overall Stability and Selective Taxa-Level Variation

Human milk bacteria contribute to gut microbiome establishment in breastfed infants. Although breastfeeding is recommended throughout infancy, temporal variation in the milk microbiome-particularly beyond solid food introduction-remains understudied. We analyzed 539 milk samples from 83 mother-infant dyads between 1 week and 12 months postpartum using full-length 16S rRNA gene sequencing.

Functional characterization of the MED12 p.Arg1138Trp variant in females: implications for neural development and disease mechanism

Seven female individuals with multiple congenital anomalies, developmental delay and/or intellectual disability have been found to have a genetic variant of uncertain significance in the mediator complex subunit 12 gene. The functional consequence of this genetic variant in disease is undetermined, and insight into disease mechanism is required.

Reduced Type-I Interferon by Plasmacytoid Dendritic Cells and Asthma in School-Aged Children

Allergic sensitization and reduced ability to respond to viral infections may contribute to virus-induced wheeze and asthma development in young children. Plasmacytoid dendritic cells (pDC) are rare immune cells that produce type I interferons (IFN-I) and play a key role in orchestrating immune responses against viruses.