Background: Heart failure with preserved ejection fraction (HFpEF) is increasingly common. While widely used prognostic scores often rely on limited variables and linear assumptions, they are likely to miss complex risk patterns. We aimed to develop and internally validate prediction models for 1-year all-cause mortality after first hospitalization for decompensated HFpEF and to compare them […]
Population-based Characterization of PTEN Hamartoma Tumor Syndrome
PTEN hamartoma tumor syndrome (PHTS) is a cancer predisposition disorder caused by germline PTEN variants, yet its full clinical spectrum remains poorly defined due to reliance on highly selected cohorts. Accordingly, PHTS is underrecognized and its prevalence underestimated. Leveraging genomic and electronic health record data from 414,830 participants in the All of Us (AoU) Research […]
Script Generation as an Efficient Measure of Cognition and Everyday Function in Older Adults
Objectives: A Script Generation Task (SGT), requiring participants to verbally describe the steps of everyday activities, was investigated as an efficient tool to detect mild functional difficulties and mild cognitive impairment (MCI). Methods: 83 participants (n=57 HC; n=26 MCI) completed a SGT, performance-based test of everyday function, cognitive tests, and questionnaires. SGT responses were transcribed […]
IHGAMP: Pan-cancer HRD prediction from routine H&E whole-slide images using foundation models
Homologous recombination deficiency (HRD) confers sensitivity to poly (ADP-ribose) polymerase (PARP) inhibitors and platinum-based chemotherapy, representing a critical biomarker for precision oncology across multiple malignancies. Current HRD assessment relies on next-generation sequencing of genomic scar signatures, but specialized infrastructure requirements, high costs, and prolonged turnaround times limit widespread adoption. These barriers restrict access to HRD […]
Dual-Prep registry: atherectomy Devices and intravascUlAr Lithotripsy for the PREParation of heavily calcified coronary lesions registry, 1-year Results
Background: Combination therapy with atherectomy and intravascular lithotripsy (IVL) has emerged as a promising strategy for the treatment of severely calcified occlusive coronary lesions, which potentially enhances procedural efficacy without increasing complication risk. Methods: The Dual-Prep Registry is a multicenter, prospective registry designed to evaluate the safety and efficacy of IVL after atherectomy in severely […]
Identification and genomic characterisation of BA.3.2: a highly divergent BA.3-related SARS-CoV-2 lineage from southern Africa
In November 2024, a highly divergent BA.3 related SARS-CoV-2 lineage, designated BA.3.2, was detected in South Africa, marking the first appearance of a BA.3 derived lineage in over two years. Phylogenetic reconstruction places BA.3.2 on an extended branch descending from ancestral BA.3, with no intermediate genomes detected, consistent with a prolonged period of unsampled or […]
Digestive system cancer mortality trends by age and sex in Peru, 2001-2020, and projections to 2030
Background: Digestive system cancer is a leading cause of mortality worldwide. This study aimed to identify changes in digestive system cancer mortality in Peru (2001-2020) by age and sex, and to predict trends through 2030. Methods: Death records for digestive system cancers (anus, colon, esophagus, stomach, liver and intrahepatic bile ducts, small intestine, pancreas, rectum, […]
ML-Guided GWAS Reveals Genetic Architectures for MASLD for Overweight and Lean Individuals in the All of Us Cohort
Metabolic dysfunction-associated steatotic liver disease (MASLD) arises from excessive hepatic fat accumulation that triggers inflammation and liver injury. It is the most prevalent chronic liver disease worldwide, affecting more than one quarter of adults. Despite this, MASLD is often underdiagnosed, making it more difficult to perform genome-wide association studies (GWAS). In this paper, we implemented […]
GenBrain: A Generative Foundation Model of Multimodal Brain Imaging
Neuroimaging faces a reproducibility crisis, where studies on small, heterogeneous datasets produce unreliable brain-wide associations and AI models that fail to generalize. To address this, we introduce GenBrain, a generative foundation model pretrained on approximately 1.2 million 3D scans from over 44,000 individuals across 34 imaging modalities to learn a population prior of brain structure […]
Trends and factors associated with diabetes screening, diagnosis and treatment in Peru, 2014-2024
Background: Timely access to screening, diagnosis, and treatment services is essential to prevent complications among people with diabetes. We evaluated trends and factors associated with self-reported diabetes screening, diagnosis, and treatment among Peruvian adults aged 18 years and older from 2014 to 2024. Methods: We analyzed data from the Health Questionnaire of the Demographic and […]