Publications by authors named "J F Dupuis"

Importance: Chronic obstructive pulmonary disease (COPD) is often undiagnosed. Although genetic risk plays a significant role in COPD susceptibility, its utility in guiding spirometry testing and identifying undiagnosed cases is unclear.

Objective: To determine whether a COPD polygenic risk score (PRS) enhances the identification of undiagnosed COPD beyond a case-finding questionnaire (eg, the Lung Function Questionnaire) using conventional risk factors and respiratory symptoms.

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Objective: This study assesses whether longitudinal quantitative pupillometry predicts neurological deterioration after large middle cerebral artery (MCA) stroke and determines how early changes are detectable.

Methods: This prospective, single-center observational cohort study included patients with large MCA stroke admitted to Boston Medical Center's intensive care unit (2019-2024). Associations between time-to-neurologic deterioration and quantitative pupillometry, including Neurological Pupil Index (NPi), were assessed using Cox proportional hazards models with time-dependent covariates adjusted for age, sex, and Alberta Stroke Program Early CT Score.

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Importance: In patients with traumatic brain injury (TBI), baseline pupillary assessment is common. However, the incidence and frequency of pupil abnormalities within the first several days remain poorly characterized.

Objectives: Our aim was to test the association between pupil abnormality frequency over the first 72 hours of admission and clinical outcomes.

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Article Synopsis
  • Accelerated decline in lung function is linked to chronic respiratory diseases, and while genetics play a role, few genetic connections have been found.
  • This study aimed to investigate genetic variants associated with lung function decline using genome-wide association studies (GWAS) across diverse populations in multiple cohorts.
  • They identified 361 significant genetic variants potentially related to lung function declines, with some replicated in additional cohorts, indicating strong genetic influences on respiratory health.
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Article Synopsis
  • A study was conducted to investigate the X-chromosome's role in Alzheimer's Disease (AD), which had been overlooked in previous genome-wide association studies.
  • The research included 115,841 AD cases and 613,671 controls, considering different X-chromosome inactivation (XCI) states in females.
  • While no strong genetic risk factors for AD were found on the X-chromosome, seven significant loci were identified, suggesting areas for future research.
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