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 […]

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, […]

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 […]

Background: Borderline personality disorder (BPD) involves emotional instability and stress sensitivity linked to oxytocinergic and HPA-axis dysregulation. This study examined oxytocin and cortisol responses to acute psychosocial stress and the modulatory effects of SSRIs and hormonal contraception. Methods: 93 female participants (45 with BPD with/without SSRIs and 48 healthy controls) underwent the Trier Social Stress […]

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 […]

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 […]

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 […]

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 […]

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 […]

Background: There are controversies about whether atrial fibrillation (AF) type, paroxysmal (PaAF) vs persistent (PeAF), affects stroke risk. The type of AF is still not included in most risk stratification tools. Objective: We aim to assess differences in stroke outcomes between PaAF and PeAF patients in both low- and high-CHA2DS2-VASc groups. Methods: We conducted an […]