Reports and Findings
Research
Outcomes of latent rheumatic heart disease: External validation of a simplified score in patients with and without secondary prophylaxisSecondary antibiotic prophylaxis reduces progression of latent rheumatic heart disease (RHD) but not all children benefit. Improved risk stratification could refine recommendations following positive screening. We aimed to evaluate the performance of a previously developed echocardiographic risk score to predict mid-term outcomes among children with latent RHD.
Research
Psychosocial wellbeing, parental concerns, and familial impact of children with developmental coordination disorderDevelopmental Coordination Disorder (DCD) is a neurodevelopmental condition impacting motor skill acquisition and competence. While previous studies have identified adverse psychosocial outcomes in DCD, they are limited by small or population-screened, community-based samples.
Research
Performance Accuracy of Wrist-Worn Oximetry and Its Automated Output Parameters for Screening Obstructive Sleep Apnea in ChildrenObstructive sleep apnea (OSA) increases the risk of perioperative adverse events in children. While polysomnography remains the reference standard for OSA diagnosis, oximetry is a valuable screening tool. The traditional practice is the manual analysis of desaturation clusters derived from a tabletop device using the McGill oximetry score. However, automated analysis of wearable oximetry data can be an alternative. This study investigated the accuracy of wrist-worn oximetry with automated analysis as a preoperative OSA screening tool.
Research
“Food faddists and pseudoscientists!”: Reflections on the history of resistance to ultra-processed foodsThe term 'ultra-processed food' emerged in the 1980s, mostly used in reference to highly-processed convenience foods and snacks, often energy-dense, poor in nutrients, and inclusive of various synthetic additives such as emulsifiers, colors, artificial sweeteners, and/or flavor enhancers.
Research
Presence of onco-fetal neighborhoods in hepatocellular carcinoma is associated with relapse and response to immunotherapyOnco-fetal reprogramming of the tumor ecosystem induces fetal developmental signatures in the tumor microenvironment, leading to immunosuppressive features. Here, we employed single-cell RNA sequencing, spatial transcriptomics and bulk RNA sequencing to delineate specific cell subsets involved in hepatocellular carcinoma relapse and response to immunotherapy.
Research
Normative Modeling of Brain Morphometry in Clinical High Risk for PsychosisThe 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.
Research
Egg-sensitised infants have elevated CD4+ effector memory T regulatory cells from birthIgE-mediated sensitisation to egg is common in infants. In some cases, the processes leading to egg sensitisation are established in early life, even before introduction to solid foods. The underlying mechanisms remain poorly understood.
Research
CRISPR-Cas9-generated PTCHD1 2489T>G stem cells recapitulate patient phenotype when undergoing neural inductionAn 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.
Research
Joint developmental trajectories of internalizing and externalizing problems from mid-childhood to late adolescence and childhood risk factors: Findings from a prospective pre-birth cohortThere 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.
Research
FDA Patient-Focused Drug Development Guidances: Considerations for Trial Readiness in Rare Developmental and Epileptic EncephalopathiesDevelopmental and epileptic encephalopathies (DEE) are rare, often monogenic neurodevelopmental conditions. Most affected individuals have refractory seizures. All have multiple severe impairments which can be as life-limiting as or more limiting than the seizures themselves. Mechanism- and gene-targeted therapies for these individually rare, genetic conditions hold hope for treatment, amelioration of disease expression, and even cure.