Abstract Despite well-documented healthcare access disparities, their impact on electronic health record reliability and resulting clinical prediction models remains poorly understood. Here, analysing …
Abstract Artificial intelligence (AI) systems have been demonstrated to improve the accuracy of screening mammograms. Here this prospective, paired, noninferiority clinical trial evaluated whether AI …
Outcomes of patients with CD30-positive (CD30+) lymphomas have improved with the advent of brentuximab vedotin (BV) and, in Hodgkin lymphoma, anti-PD1 checkpoint inhibitors (CPI). However, there is a …
Abstract Nongenetic exposures comprising the ‘exposome’, including diet, lifestyle, infections and pollutants, shape many clinical phenotypes yet the evidence remains fragmented. Here we conducted an …
Abstract Psychedelic drugs are re-emerging as promising scientific and clinical tools. However, despite a rapidly expanding literature on their therapeutic value, the neural mechanisms underlying psyc …
Abstract Background Medulloblastoma (MB), the most common malignant pediatric brain tumor, lacks prognostic tools integrating clinical, molecular, and treatment-related characteristics for individuali …
Abstract Patient-facing large language models (LLMs) hold potential to streamline inefficient transitions from primary to specialist care. We developed the preassessment (PreA), an LLM chatbot co-desi …
Abstract Smartphone-based digital trace data can offer powerful insights for identifying behavioural patterns and health risks. However, existing tools for comprehensive data collection lack scalabili …
Abstract Background Tuberculosis (TB) is one of the leading causes of death worldwide, even though it is curable using antibiotics. Most people who die of TB never begin treatment because diagnostics …
Abstract KCNT1-related epileptic encephalopathy, including epilepsy of infancy with migrating focal seizures, is a severe neurodevelopmental disorder associated with refractory seizures, profound neur …
Abstract Background An increasing number of children and adults who are deaf are receiving cochlear implants in both ears (bilateral CIs or BiCIs), promoting the possibility of access to binaural cues …
Abstract Elevated blood levels of phosphorylated tau (p-tau) are diagnostic of Alzheimer disease and are associated with the deposition of amyloid-β in the cerebral neuropil. Elevated p-tau levels hav …
To fully harness precision medicine and transform cancer care for the better will require a strategic shift to highly personalized interventions that embrace innovation and adaptability.
Alzheimer’s disease (AD) is heterogenous at the molecular level. Understanding this heterogeneity is critical for AD drug development. Here we define AD molecular subtypes using mass spectrometry prot …
Abstract Here we describe the feasibility and first implementation of a mandatory, citywide premarital genomic screening program comprising the sequencing of 782 genes, implicated in autosomal recessi …
Contemporary healthcare is undergoing a transition, shifting from a population-based approach to personalized medicine on an individual level1. In October 2023, the European Partnership for Personaliz …
Abstract The past decade has seen remarkable progress in identifying genes that, when impacted by deleterious coding variation, confer high likelihood for autism spectrum disorder (ASD), intellectual …
Allogeneic natural killer (NK) cell immunotherapy is emerging as a promising and scalable, off-the-shelf platform for treating relapsed and refractory cancers. Early-phase clinical trials have demonst …
Abstract Population genomic screening enables the identification of individuals at high risk of medically actionable conditions before disease onset, yet real-world feasibility studies are lacking. In …
Adoptive cell therapy using engineered natural killer (NK) cells is a promising approach for cancer treatment, with targeted gene editing offering the potential to further enhance their therapeutic ef …
Abstract Adjunctive corticosteroids such as dexamethasone are recommended in tuberculous meningitis treatment, despite modest and heterogeneous survival benefit. Leukotriene A4 hydrolase (LTA4H) genot …
Distinct metabolic susceptibilities (beta-cell dysfunction, insulin resistance (IR), and impaired incretin response) underlie type 2 diabetes (T2D). However, their relationships with habitual lifestyl …
Abstract Background Despite rapid advances in treatment, breast cancer remains the leading cause of cancer mortality in women, with triple negative breast cancers having a particularly poor prognosis. …
Abstract Tumor-infiltrating T cells have been the primary focus of cancer immunotherapy; however, accumulating evidence points to a critical role for B cells and plasma cells in shaping responses to i …
Abstract Heterozygous familial hypercholesterolemia is a common genetic disorder characterized by lifelong elevation of serum low-density lipoprotein cholesterol (LDL-C) and premature atherosclerotic …
Abstract Cancer generally takes years to evolve, and early diagnosis can prevent life-threatening cancer. Establishing a link between precancerous states and cancer is essential for effective screenin …
Abstract Background Next-generation sequencing (NGS) tests are integral to oncology care. To address the need for clinical and NGS data management, interpretation, and reporting, we developed iCatalog …
The biological processes that are disrupted in the Alzheimer’s disease (AD) brain remain incompletely understood. In this study, we analyzed the proteomes of more than 1,000 brain tissues to reveal ne …
Abstract Blinding eye diseases pose a substantial global health burden, yet current screening strategies are limited by resource demands and poor accessibility, particularly in underserved settings. L …
Pediatric obesity is a progressive, chronic disease that can lead to serious cardiometabolic complications. Here we investigated the peripheral lipidome in 958 children and adolescents with overweight …
Abstract INTRODUCTION Alzheimer's disease (AD) is a devastating neurological disease that disproportionately affects women. This study aimed to investigate sex-specific single lipids associated with A …
Abstract LRRK2 (encoding leucine-rich repeat kinase 2) variants are the most common genetic cause of Parkinson’s disease (PD). Lowering LRRK2 levels and/or inhibiting LRRK2 activity may modify PD-asso …
Nalmefene and naltrexone are two drug treatments for alcohol use disorder, but disagreement exists on which is more effective. Despite ongoing controversy, treatment outcomes have only been compared a …
Aging is a complex process associated with nearly all diseases. Understanding the molecular changes underlying aging and identifying therapeutic targets for aging-related diseases are crucial for incr …
Abstract Cancer interception is a preventative approach aiming to reduce cancer incidence by targeting precancers and early-stage cancers. Lynch syndrome (LS) is a prevalent hereditary cancer syndrome …
Precision nutrition-based methods develop tailored interventions and/or recommendations accounting for determinants of intra- and inter-individual variation in response to the same diet, compared to c …
Abstract Individuals of African ancestry carrying APOL1 (apolipoprotein L1) high-risk genotypes face a markedly increased risk of kidney failure, yet tools to identify those individuals likely to prog …
)
)
)
)
)
)
)
)