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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.
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.
The efficacy of chimeric antigen receptor (CAR) T cell therapy in solid tumours is limited by immunosuppression and antigen heterogeneity. To overcome these barriers, 'armoured' CAR T cells, which secrete proinflammatory cytokines, have been developed. However, their clinical application has been limited because of toxicity related to peripheral expression of the armouring transgene.
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.
People with intellectual disability experience higher rates of physical and mental health problems than those without intellectual disability. Health literacy includes accessing, understanding, appraising and applying health information. Improving health literacy is associated with better health outcomes. The internet is a primary source of health information for many people. This study aimed to evaluate available online health resources for people with intellectual disability and their families to understand information gaps.
Pediculosis capitis is a worldwide prevalent public health issue, mostly involving children. Resistance has been increasingly identified with conventional treatments such as permethrin or malathion. We aimed to evaluate the therapeutic potential of plant-based therapies for pediculosis capitis. PubMed, MEDLINE, Embase, EmCare, Web of Science, Cochrane, and ScienceDirect were searched for studies.
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.
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.
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.
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.