To describe trends, age-specific patterns, and factors influencing hospitalizations for 5 rare craniofacial anomalies. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• April 2023

Machine learning (ML) algorithms are powerful tools that are increasingly being used for sepsis biomarker discovery in RNA-Seq data. RNA-Seq datasets contain multiple sources and types of noise (operator, technical and non-systematic) that may bias ML classification. Normalisation and independent gene filtering approaches described in RNA-Seq workflows account for some of this variability and are typically only targeted at differential expression analysis rather than ML applications. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• April 2023

The number of tRNA isodecoders has increased dramatically in mammals, but the specific molecular and physiological reasons for this expansion remain elusive. To address this fundamental question we used CRISPR editing to knockout the seven-membered phenylalanine tRNA gene family in mice, both individually and combinatorially. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• April 2023

The COVID-19 pandemic has led to far-reaching disruptions to health systems, including preventative and curative services for malaria. The aim of this study was to estimate the magnitude of disruptions in malaria case management in sub-Saharan Africa and their impact on malaria burden during the COVID-19 pandemic. We used survey data collected by the World Health Organization, in which individual country stakeholders reported on the extent of disruptions to malaria diagnosis and treatment. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• April 2023

Policy interventions to increase physical activity in early childhood education and care (ECEC) services are effective in increasing physical activity among young children. However, a large proportion of ECEC services do not have nor implement a physical activity policy. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• April 2023

The aim of the present study was to compare scale and conditional reliability derived from item response theory analyses among the most commonly used, as well as several newly developed, observation, interview, and parent-report autism instruments. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• April 2023

The vast and growing challenges for human health and all life on Earth require urgent and deep structural changes to the way in which we live. Broken relationships with nature are at the core of both the modern health crisis and the erosion of planetary health. A declining connection to nature has been implicated in the exploitative attitudes that underpin the degradation of both physical and social environments and almost all aspects of personal physical, mental, and spiritual health. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• March 2023

Poor maternal diet during pregnancy is a risk factor for severe lower respiratory infections in the offspring, but the underlying mechanisms remain elusive. Here, we demonstrate that in mice a maternal low-fiber diet led to enhanced LRI severity in infants because of delayed plasmacytoid dendritic cell recruitment and perturbation of regulatory T cell expansion in the lungs. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• March 2023

This review identifies challenges and barriers to successful development of drugs in neuro-oncology trials at the preclinical, clinical and translational stages that we believe has contributed to poor outcomes for patients over the last 30 years. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• March 2023

Between 1964 and 1996, the 10-year survival of patients having valve replacement surgery for rheumatic heart disease (RHD) in the Northern Territory, Australia, was 68%. As medical care has evolved since then, this study aimed to determine whether there has been a corresponding improvement in survival. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• March 2023

Siblings of individuals with neurodevelopmental conditions (NDCs) are exposed to unique family environments and experience a range of psychosocial risk and resilience factors. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• March 2023

Lung-function impairment underlies chronic obstructive pulmonary disease (COPD) and predicts mortality. In the largest multi-ancestry genome-wide association meta-analysis of lung function to date, comprising 580,869 participants, we identified 1,020 independent association signals implicating 559 genes supported by ≥2 criteria from a systematic variant-to-gene mapping framework. These genes were enriched in 29 pathways. Individual variants showed heterogeneity across ancestries, age and smoking groups, and collectively as a genetic risk score showed strong association with COPD across ancestry groups. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• March 2023