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Suboptimal glycemic control in adolescents and young adults with type 1 diabetes from 2011 to 2020 across Australia and New Zealand: Data from the Australasian Diabetes Data Network registry

Competing challenges in adolescence and young adulthood can distract from optimal type 1 diabetes (T1D) self-management, and increase risks of premature morbidity and mortality. There are limited data mapping the glycemic control of people with T1D in this age group, across Australasia.

The human toll and humanitarian crisis of the Russia-Ukraine war: the first 162 days

We examined the human toll and subsequent humanitarian crisis resulting from the Russian invasion of Ukraine, which began on 24 February 2022.

The Use of Serious Gaming to Improve Sensorimotor Function and Motivation in People with Cerebral Palsy: A Systematic Review

The aim of this systematic review was to review the evidence for serious gaming interventions in improving sensorimotor function in children and adults with cerebral palsy (CP). Seven databases were searched with terms related to serious gaming and CP.

Screening Measures of Perinatal Mental Health and Wellbeing in Fathers: A Scoping Review

Accurately screening fathers for perinatal mental health problems requires well-validated screening instruments that assess the expression of paternal perinatal mental distress. This study aimed to identify and describe the psychometric properties of perinatal mental health screening instruments administered to paternal cohorts within the past two decades. 

Quicker team launch times for urgent priority neonatal retrievals: A Quality Improvement Initiative study

Neonatal retrieval networks have adopted time-centric quality metrics as Key Performance Indicators (KPI) for setting and comparing benchmarking standards. Quicker launch time (departure from base), an essential KPI, enables neonatal retrieval teams to rapidly provide higher-level care to sick infants. The Newborn Emergency Transport Services of Western Australia (NETS WA) facilitates neonatal transfers across largest global retrieval area necessitating quicker team launch times for urgent retrievals. NETS WA conducted a quality improvement (QI) study to quicken team launch times for urgent retrievals.

Evaluation of the Acceptability and Feasibility of the Social Attention and Communication Surveillance-Revised (SACS-R) Tool for Early Identification of Autism in Preterm Infants

Preterm birth is associated with a 3.3-fold increased likelihood of autism diagnosis, with lower gestational age conferring higher likelihood. In Australia, autism is typically diagnosed at around age four, potentially missing the optimal neuroplasticity window before age two. The Social Attention and Communication Surveillance-Revised (SACS-R) tool identifies early autism signs in children aged 11-30 months, enabling pre-emptive intervention.

Benchmarking Imputed Low Coverage Genomes in a Human Population Genetics Context

Ongoing advances in population genomic methodologies have recently enabled the study of millions of loci across hundreds of genomes at a relatively low cost, by leveraging a combination of low-coverage shotgun sequencing and innovative genotype imputation methods. This approach has the potential to provide abundant genotype information at low costs comparable to another widely used cost-effective genotyping approach-that is, SNP panels-while avoiding potential issues related to loci being ascertained in distantly related populations.

Psychometric evaluation of the Comprehensive Autistic Trait Inventory in autistic and non-autistic adults

Measures of autistic traits are only useful – for pre-diagnostic screening, exploring individual differences, and gaining personal insight – if they efficiently and accurately assess autism as currently conceptualised while maintaining psychometric validity across different demographic groups. We recruited 1322 autistic and 1279 non-autistic adults who varied in autism status (non-autistic, diagnosed autistic, self-identifying autistic) and gender (cisgender men, cisgender women, gender diverse) to assess the psychometric properties of the Comprehensive Autistic Trait Inventory, a recently developed measure of autistic traits that examines six trait domains using 42 self-report statements.

Realising the potential impact of artificial intelligence for rare diseases – A framework

Rare diseases (RD) are conditions affecting fewer than 1 in 2000 persons, with over 7000 largely genetic RDs affecting 3.5 %-5.9 % of the global population, or approximately 262.9–446.2 million people. The substantial healthcare burden and costs, such as the $1 trillion annual expense in the USA, highlight the urgent need for improved RD management. The International Rare Diseases Research Consortium (IRDiRC) addresses this need through global collaboration, aiming for timely and accurate diagnosis, development of 1000 new therapies, and methodologies to measure impact by 2027.

The mitophagy receptors BNIP3 and NIX mediate tight attachment and expansion of the isolation membrane to mitochondria

BNIP3 and NIX are the main receptors for mitophagy, but their mechanisms of action remain elusive. Here, we used correlative light EM (CLEM) and electron tomography to reveal the tight attachment of isolation membranes (IMs) to mitochondrial protrusions, often connected with ER via thin tubular and/or linear structures.