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When investigating whether a variant identified by diagnostic genetic testing is causal for disease, applied genetics professionals evaluate all available evidence to assign a clinical classification. Functional assays of higher and higher throughput are increasingly being generated and, when appropriate, can provide strong functional evidence for or against pathogenicity in variant classification. Despite functional assay data representing unprecedented value for genomic diagnostics, challenges remain around the application of functional evidence in variant curation.
Preeclampsia is a hypertensive disorder of pregnancy with major maternal and fetal consequences. While the molecular basis of early-onset preeclampsia is well studied, the mechanisms underlying late-onset disease-and how they differ by fetal sex-remain poorly understood. Placental transcriptomic profiling at term can reveal persistent molecular alterations reflecting cumulative disease processes.
To explore how graded hypoxia affects perceptual sensations during heart-rate-clamped cycling using qualitative methods.
Mycobacteroides abscessus (MABS) is within the non-tuberculous mycobacteria family. It inhabits soil and water, exhibits multi-antibiotic resistance and causes opportunistic lung infections, which may progress to symptomatic MABS-pulmonary disease (MABS-PD) associated with substantial morbidity, increased healthcare utilisation, impaired quality of life and increased mortality.
The Act Belong Commit® mental health promotion campaign aims to improve population mental well-being. Based on a social-franchising model, partnerships are sought with organizations offering 'mentally healthy activities' that foster social connectedness and mental well-being. There are four categories of partner organizations sought: Site (government agencies and health services), Associate (organizations with state-wide or national services), Community (local, grass-roots community groups) and Schools.
Cereal-derived polyphenols have demonstrated protective mechanisms in colorectal cancer (CRC) models; however, confirmation in human studies is lacking. Therefore, this study examined the association between cereal polyphenol intakes and CRC risk in the Melbourne Collaborative Cohort Study (MCCS), a prospective cohort study in Melbourne, Australia that recruited participants between 1990 and 1994 to investigate diet-disease relationships.
Several systematic reviews and meta-analyses have been conducted on the risk and protective factors of youth crime. This study aims to consolidate this evidence using an umbrella review methodology.
Evidence indicates that criminal behaviour in youth is linked with a range of negative physical, mental, and social health consequences. Despite a global decrease over the last 30 years, youth crime remains prevalent.
Empathy, a complex and multidimensional construct essential for social functioning and mental health, has been extensively studied in both research and clinical settings. The Perth Empathy Scale (PES), a recently developed self-report measure, assesses cognitive and affective empathy across both positive and negative emotions and is based on the self-other model of empathy. This study aimed to evaluate the psychometric properties of the Persian version of the PES in large Iranian sample.
Although up to 89% of autistic children experience feeding difficulties, little is known about the impact of these difficulties on mealtime participation. The aim of this study was to explore the impact of feeding difficulties on the mealtime participation of autistic children and their families based on caregiver experiences.