Diseases can show different courses of progression even when patients share the same risk factors. Recent studies have revealed that the use of trajectories, the order in which diseases manifest throughout life, can be predictive of the course of progression. In this study, we propose a novel computational method for learning disease trajectories from EHR data. The proposed method consists of three parts: first, we propose an algorithm for extracting trajectories from EHR data; second, three criteria for filtering trajectories; and third, a likelihood function for assessing the risk of developing a set of outcomes given a trajectory set. We applied our methods to extract a set of disease trajectories from Mayo Clinic EHR data and evaluated it internally based on log-likelihood, which can be interpreted as the trajectories' ability to explain the observed (partial) disease progressions. We then externally evaluated the trajectories on EHR data from an independent health system, M Health Fairview. The proposed algorithm extracted a comprehensive set of disease trajectories that can explain the observed outcomes substantially better than competing methods and the proposed filtering criteria selected a small subset of disease trajectories that are highly interpretable and suffered only a minimal (relative 5%) loss of the ability to explain disease progression in both the internal and external validation.
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http://dx.doi.org/10.1109/JBHI.2021.3089441 | DOI Listing |
Sci Rep
December 2024
State Key Laboratory for Diagnosis and Treatment of Infectious Diseases, National Clinical Research Center for Infectious Diseases, National Medical Center for Infectious Diseases, Collaborative Innovation Center for Diagnosis and Treatment of Infectious Diseases, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.
The gut microbiome, recognized as a critical component in the development of chronic diseases and aging processes, constitutes a promising approach for predicting host health status. Previous research has underscored the potential of microbiome-based predictions, and the rapid advancements of machine learning techniques have introduced new opportunities for exploiting microbiome data. To predict various host nonhealthy conditions, this study proposed an integrated machine learning-based estimation pipeline of Gut Age Index (GAI) by establishing a health aging baseline with the gut microbiome data from healthy individuals.
View Article and Find Full Text PDFAlzheimers Dement
December 2024
Department of Neurology, Seoul St. Mary's Hospital, The Catholic University of Korea, Seoul, Republic of Korea.
Introduction: Alzheimer's disease (AD) is now diagnosed biologically. Since subjective cognitive decline (SCD) may indicate preclinical AD, assessing AD-biomarkers is crucial. We investigated cognitive and neurodegenerative trajectories in SCD over 24 months based on biomarker positivity, and evaluated the predictive value of plasma biomarkers.
View Article and Find Full Text PDFAlzheimers Dement
December 2024
Northwestern Mesulam Center for Cognitive Neurology and Alzheimer's Disease, Chicago, Illinois, USA.
The Alzheimer's Association convened a Diagnostic Evaluation, Testing, Counseling and Disclosure Clinical Practice Guideline workgroup to help combat the major global health challenges surrounding the timely detection, accurate diagnosis, and appropriate disclosure of mild cognitive impairment (MCI) or dementia due to Alzheimer's disease (AD) or other diseases that cause these types of cognitive-behavioral disorders. The newly published clinical practice guidelines are proposed as a structured approach to evaluation. The purpose of the present article is to provide a clinical perspective on the use of neuropsychology within the new framework and practice guidelines outlined under the Diagnostic Evaluation, Testing, Counseling and Disclosure of Suspected Alzheimer's Disease and Related Disorders (DETeCD-ADRD) recommendations for primary care and specialty care.
View Article and Find Full Text PDFJ Intern Med
December 2024
Fresenius Medical Care, Global Medical Office, Bad Homburg, Germany.
Background: Fluid overload remains critical in managing patients with end-stage kidney disease. However, there is limited empirical understanding of fluid overload's impact on mortality. This study analyzes fluid overload trajectories and their association with mortality in hemodialysis patients.
View Article and Find Full Text PDFGenet Med
December 2024
Movement Disorders Program, Department of Neurology and F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA. Electronic address:
Objectives: Biallelic HPDL variants have been identified as the cause of a progressive childhood-onset movement disorder, with a broad clinical spectrum from severe neurodevelopmental disorder to juvenile-onset pure hereditary spastic paraplegia type 83. This study aims at delineating the geno- and phenotypic spectra of patients with HPDL-related disease, quantitatively modelling the natural history, and uncovering genotype-phenotype associations.
Methods: A cross-sectional analysis of 90 published and one novel case was performed, employing a Human Phenotype Ontology-based approach.
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