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Penetrance of neurodevelopmental copy number variants is associated with variations in cortical morphology
No full textCopy number variants (CNVs) increase risk for neurodevelopmental conditions. The neurobiological mechanisms linking these high-risk genetic variants to clinical phenotypes are largely unknown. An important question is whether brain abnormalities in individuals carrying CNVs are associated with their degree of penetrance. We investigated if increased CNV-penetrance for schizophrenia and other developmental disorders was associated with variations in cortical and subcortical morphology. We pooled T1-weighted brain magnetic resonance imaging and genetic data from 22 cohorts from the ENIGMA-CNV consortium. In the main analyses, we included 9,268 individuals (aged 7 to 90 years, 54% females), from which we identified 398 carriers of 36 neurodevelopmental CNVs at 20 distinct loci. A secondary analysis was performed including additional neuroimaging data from the ENIGMA-22q consortium, including 274 carriers of the 22q11.2 deletion and 291 non-carriers. CNV-penetrance was estimated through penetrance scores that were previously generated from large cohorts of patients and controls. These scores represent the probability risk to develop either schizophrenia or other developmental disorders (including developmental delay, autism spectrum disorder and congenital malformations). For both schizophrenia and developmental disorders, increased penetrance scores were associated with lower surface area in the cerebral cortex and lower intracranial volume. For both conditions, associations between CNV-penetrance scores and cortical surface area were strongest in regions of the occipital lobes, specifically in the cuneus and lingual gyrus. Our findings link global and regional cortical morphometric features with CNV-penetrance, providing new insights into neurobiological mechanisms of genetic risk for schizophrenia and other developmental disorders. [Abstract copyright: Copyright © 2025. Published by Elsevier Inc.
The impact of model assumptions in interpreting cell kinetic studies
No full textStable isotope labelling is one of the best available methods for quantifying cell dynamics in vivo, particularly in humans where the absence of toxicity makes it preferable over other techniques such as CFSE or BrdU. Interpretation of stable isotope labelling data necessitates simplifying assumptions. Here we investigate the impact of three of the most commonly used simplifying assumptions (thatthe cell population of interest is closed, that the population of interest is kinetically homogeneous, and that the population is spatially homogeneous) and suggest pragmatic ways in which the resulting errors can be reduced
Impact of a mineral enriched, fiber complex on glycaemic response and satiation in healthy adults: a double-blind, crossover intervention study
No full textPurpose: To investigate the effects of a chromium-enriched glucomannan-fructooligosaccharide complex (SB) on glycaemic and insulin responses, satiation, and hunger biomarkers in healthy adults. Methods: Using a double-blind, placebo-controlled, randomised crossover design, we assessed the acute impact of a single 3 g SB dose in 16 healthy adults (BMI 18.5–24.9 kg/m2) during a modified oral glucose tolerance test. On separate days, participants consumed 50 g dextrose or 50 g dextrose with 3 g SB (SBD). Blood glucose and insulin were analysed over 2.5 h. Hunger, fullness, and desire to eat were assessed via visual analogue scales. Additionally, the impact of SB on gastric viscosity was assessed in vitro. Results: SBD intake significantly reduced the insulin concentration compared to dextrose alone at 45, 75, and 90 min post-intake. Additionally, SBD resulted in significantly greater fullness and a lower desire to eat at 75 min when compared to dextrose (p < 0.05). Although hunger increased over time for both interventions, SBD led to lower hunger, desire to eat, and food desire scores compared to dextrose at 150 min (p < 0.05). The viscosity of SB, even when combined with dextrose, was significantly higher compared to dextrose alone. Conclusions: These novel findings suggest that SB can modulate insulin response and influence appetite regulation, highlighting its potential use in weight management strategies
AI-Powered Adaptive Disability Prediction and Healthcare Analytics Using Smart Technologies
No full textBackground: By leveraging advanced wireless technologies, Healthcare Industry 5.0 promotes the continuous monitoring of real-time medical acquisition from the physical environment. These systems help identify early diseases by collecting health records from patients’ bodies promptly using biosensors. The dynamic nature of medical devices not only enhances the data analysis in medical services and the prediction of chronic diseases, but also improves remote diagnostics with the latency-aware healthcare system. However, due to scalability and reliability limitations in data processing, most existing healthcare systems pose research challenges in the timely detection of personalized diseases, leading to inconsistent diagnoses, particularly when continuous monitoring is crucial. Methods: This work propose an adaptive and secure framework for disability identification using the Internet of Medical Things (IoMT), integrating edge computing and artificial intelligence. To achieve the shortest response time for medical decisions, the proposed framework explores lightweight edge computing processes that collect physiological and behavioral data using biosensors. Furthermore, it offers a trusted mechanism using decentralized strategies to protect big data analytics from malicious activities and increase authentic access to sensitive medical data. Lastly, it provides personalized healthcare interventions while monitoring healthcare applications using realistic health records, thereby enhancing the system’s ability to identify diseases associated with chronic conditions. Results: The proposed framework is tested using simulations, and the results indicate the high accuracy of the healthcare system in detecting disabilities at the edges, while enhancing the prompt response of the cloud server and guaranteeing the security of medical data through lightweight encryption methods and federated learning techniques. Conclusions: The proposed framework offers a secure and efficient solution for identifying disabilities in healthcare systems by leveraging IoMT, edge computing, and AI. It addresses critical challenges in real-time disease monitoring, enhancing diagnostic accuracy and ensuring the protection of sensitive medical data
An Exploration of the Meaning Making Process of Adults Who Were Relationally Bullied in Adolescence
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Exploring the mental health and acculturation needs of sexual and/or gender minority forced migrants
Get PDFRevolutionising Education: Leveraging AI to Boost Student Engagement through Constructivist and Social Collaborative Learning - A Study of Perusall
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A Healing Oasis for Peace and Empowerment (H.O.P.E.) Circle: Implementing youth-led participatory action research as an antiracist approach to Black youths’ disenfranchised grief and healing
No full textObjective: This methodological report examines a collaboration between a social worker and an urban education researcher who partnered with a predominantly Black youth-serving organization to address disenfranchised grief among Black youths. Method: The university partners facilitated the Healing Oasis for Peace and Empowerment (H.O.P.E.) Circle program—an antiracist, healing-centered, youth-led participatory action research initiative intended to enhance youths’ social–emotional well-being through near-peer mentoring and help Black and brown youths to navigate collective grief in response to community violence. The focus on collective grief emerged after consecutive homicides involving peers in an after-school program, which prompted the program’s director to seek ongoing support from the university to address trauma among program participants. Results: Findings highlight the result of a youth-led healing-centered intervention following peer deaths from violence and disenfranchised grief exacerbated by the normalization of community violence in Black communities and the local school’s inadequate and culturally invalidating responses to youth grief. Conclusions: We emphasize the importance of providing affirming spaces for Black youth to act as change agents within their communities during grief. The H.O.P.E. Circle initiative offers insights for scholars, practitioners, and policymakers seeking to address disenfranchised grief among Black youth following community violence