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An estimated 3.5%-5.9% of the global population live with rare diseases, and approximately 80% of these diseases have a genetic cause. Rare genetic diseases are difficult to diagnose, with some affected individuals experiencing diagnostic delays of 5-30 years. Next-generation sequencing has improved clinical diagnostic rates to 33%-48%. In a majority of cases, novel variants potentially causing the disease are discovered.
There is limited evidence on heterogenous co-developmental trajectories of internalizing and externalizing problems from childhood to adolescence and predictors of these joint trajectories. We utilized longitudinal data from Raine Study participants to identify these joint trajectories from 5 to 17 years using parallel-process latent class growth analysis and analyze childhood individual and family risk factors predicting these joint trajectories using multinomial logistic regression.
Developmental Coordination Disorder (DCD) is among the most under-recognized and under-supported disorders worldwide. The aim of this study was to present a preliminary national study that evaluated the unmet needs of children with DCD in the USA using the Impact for DCD survey.
Working with bereaved parents in co-designed stillbirth research, policy and practice is essential to improving care and outcomes.
Whereas CD4+ T cells conventionally mediate antitumor immunity by providing help to CD8+ T cells, recent clinical studies have implied an important role for cytotoxic CD4+ T cells in cancer immunity. Using an orthotopic melanoma model, we provide a detailed account of antitumoral CD4+ T cell responses and their regulation by major histocompatibility complex class II (MHC II) in the skin.
The lack of robust neuroanatomical markers of psychosis risk has been traditionally attributed to heterogeneity. A complementary hypothesis is that variation in neuroanatomical measures in individuals at psychosis risk may be nested within the range observed in healthy individuals.
Beliefs about the controllability and usefulness of emotions may influence successful emotion regulation across multiple emotional disorders and could thus be influential mechanisms in long-term mental health outcomes. However, to date there has been little empirical work in this area.
The Staphylococcus aureus Network Adaptive Platform (SNAP) trial is a multifactorial Bayesian adaptive platform trial that aims to improve the way that S. aureus bloodstream infection, a globally common and severe infectious disease, is treated. In a world first, the SNAP trial will simultaneously investigate the effects of multiple intervention modalities within multiple groups of participants with different forms of S. aureus bloodstream infection.
Respiratory syncytial virus (RSV) remains a leading cause of mortality and morbidity worldwide. RSV seasonality was disrupted by COVID-19-associated nonpharmaceutical interventions (NPIs). We review RSV seasonality, molecular epidemiology, clinical manifestations, and community awareness to inform future prevention strategies.
Acute rheumatic fever (ARF), a serious inflammatory condition, often leads to rheumatic heart disease. Between 2011 and 2016, Aotearoa New Zealand implemented a rheumatic fever prevention programme to reduce high rates of ARF through improved community access to timely diagnosis and early treatment of group A streptococcal pharyngitis, which has been shown to prevent subsequent ARF.