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.

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.

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. 

Current Practices and Priorities of Anesthetists and Consumers for Infants Undergoing Inguinal Hernia Surgery

There is a paucity of data on the chosen anesthesia management for infant inguinal hernia surgery. We aimed to characterize self-reported anesthetic practice in Australia and New Zealand. We also aimed to identify the outcomes that matter to both anesthetists and to parents and carers.

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.

Marked Variation in Paediatric Problematic Severe Asthma Services Across Australia and New Zealand

Asthma affects > 10% of children in Australia and New Zealand (NZ), with up to 5% of those having severe disease, presenting a management challenge. We aimed to survey tertiary paediatric respiratory services across Australia and NZ using a custom-designed questionnaire, to conduct a cross-sectional observational study of the numbers of children with problematic severe asthma seen, the number treated with biologic therapy, outpatient clinic/multidisciplinary team services available, investigations and tools routinely used and approaches utilised for transition to adult care.

Relationship between group B Streptococcal rectovaginal colonization and Vitamin D deficiency in pregnant women

Vitamin D has been recognized to have a significant impact on modulating immune response in the host body. The relationship between deficiency of Vitamin D and rectovaginal colonization with Group B Streptococcus (GBS) in pregnant women is still not well understood. 

Implementation Fidelity of a Smartphone Application for Population-Based General Movement Assessment: The Early Moves Study

To describe the infant and maternal characteristics of the Early Moves cohort and to assess representativeness to the general population, and to evaluate the implementation fidelity of an application-based collection of General Movement Assessment (GMA) videos at writhing and fidgety age.

Autism and Attention-Deficit/Hyperactivity Disorder Content in Highly Viewed TikTok Videos

Social media allows users to connect with others’ experiences and points of view, with TikTok being the fastest-growing platform worldwide. Highly viewed videos related to neurodiversity on TikTok have an increasing role in understanding and acceptance of neurodivergent individuals.

Targeting intolerance of uncertainty in young children diagnosed with autism: A randomized controlled trial of a parent-mediated group intervention

Young children diagnosed with autism experience high rates of co-occurring anxiety, with uncertainty-related concerns commonly reported. This randomized controlled trial investigated an 8-week parent-mediated group anxiety intervention, “Coping with Uncertainty in Everyday Situations” (CUES-Junior©).