Health informatics can inform decisions that practitioners, patients, policymakers, and researchers need to make about health and disease. Health informatics is built upon patient health data leading to the need to codify patient health information. Such standardization is required to compute population statistics (such as prevalence, incidence, etc.) that are common metrics used in fields such as epidemiology. Reliable decision-making about health and disease rests on our ability to organize, analyze, and assess data repositories that contain patient health data. While standards exist to structure and analyze patient data across patient data sources such as health information exchanges, clinical data repositories, and health data marketplaces, analogous best practices for rigorously defining patient populations in health informatics contexts do not exist. Codifying best practices for developing disease definitions could support the effective development of clinical guidelines, inform algorithms used in clinical decision support systems, and additional patient guidelines. In this paper, we present a workflow for the development of phenotype definitions. This workflow presents a ser
Imaging fluorescent disease biomarkers in tissues and skin is a non-invasive method to screen for health conditions. We report an automated process that combines intraoral fluorescent porphyrin biomarker imaging, clinical examinations and machine learning for correlation of systemic health conditions with periodontal disease. 1215 intraoral fluorescent images, from 284 consenting adults aged 18-90, were analyzed using a machine learning classifier that can segment periodontal inflammation. The classifier achieved an AUC of 0.677 with precision and recall of 0.271 and 0.429, respectively, indicating a learned association between disease signatures in collected images. Periodontal diseases were more prevalent among males (p=0.0012) and older subjects (p=0.0224) in the screened population. Physicians independently examined the collected images, assigning localized modified gingival indices (MGIs). MGIs and periodontal disease were then cross-correlated with responses to a medical history questionnaire, blood pressure and body mass index measurements, and optic nerve, tympanic membrane, neurological, and cardiac rhythm imaging examinations. Gingivitis and early periodontal disease were
Knowledge of a disease includes information of various aspects of the disease, such as signs and symptoms, diagnosis and treatment. This disease knowledge is critical for many health-related and biomedical tasks, including consumer health question answering, medical language inference and disease name recognition. While pre-trained language models like BERT have shown success in capturing syntactic, semantic, and world knowledge from text, we find they can be further complemented by specific information like knowledge of symptoms, diagnoses, treatments, and other disease aspects. Hence, we integrate BERT with disease knowledge for improving these important tasks. Specifically, we propose a new disease knowledge infusion training procedure and evaluate it on a suite of BERT models including BERT, BioBERT, SciBERT, ClinicalBERT, BlueBERT, and ALBERT. Experiments over the three tasks show that these models can be enhanced in nearly all cases, demonstrating the viability of disease knowledge infusion. For example, accuracy of BioBERT on consumer health question answering is improved from 68.29% to 72.09%, while new SOTA results are observed in two datasets. We make our data and code fr
YouTube has rapidly emerged as a predominant platform for content consumption, effectively displacing conventional media such as television and news outlets. A part of the enormous video stream uploaded to this platform includes health-related content, both from official public health organizations, and from any individual or group that can make an account. The quality of information available on YouTube is a critical point of public health safety, especially when concerning major interventions, such as vaccination. This study differentiates itself from previous efforts of auditing YouTube videos on this topic by conducting a systematic daily collection of posted videos mentioning vaccination for the duration of 3 months. We show that the competition for the public's attention is between public health messaging by institutions and individual educators on one side, and commentators on society and politics on the other, the latest contributing the most to the videos expressing stances against vaccination. Videos opposing vaccination are more likely to mention politicians and publication media such as podcasts, reports, and news analysis, on the other hand, videos in favor are more li
Linking clinical narratives to standardized vocabularies and coding systems is a key component of unlocking the information in medical text for analysis. However, many domains of medical concepts lack well-developed terminologies that can support effective coding of medical text. We present a framework for developing natural language processing (NLP) technologies for automated coding of under-studied types of medical information, and demonstrate its applicability via a case study on physical mobility function. Mobility is a component of many health measures, from post-acute care and surgical outcomes to chronic frailty and disability, and is coded in the International Classification of Functioning, Disability, and Health (ICF). However, mobility and other types of functional activity remain under-studied in medical informatics, and neither the ICF nor commonly-used medical terminologies capture functional status terminology in practice. We investigated two data-driven paradigms, classification and candidate selection, to link narrative observations of mobility to standardized ICF codes, using a dataset of clinical narratives from physical therapy encounters. Recent advances in lang
Early disease detection and prevention methods based on effective interventions are gaining attention. Machine learning technology has enabled precise disease prediction by capturing individual differences in multivariate data. Progress in precision medicine has revealed that substantial heterogeneity exists in health data at the individual level and that complex health factors are involved in the development of chronic diseases. However, it remains a challenge to identify individual physiological state changes in cross-disease onset processes because of the complex relationships among multiple biomarkers. Here, we present the health-disease phase diagram (HDPD), which represents a personal health state by visualizing the boundary values of multiple biomarkers that fluctuate early in the disease progression process. In HDPDs, future onset predictions are represented by perturbing multiple biomarker values while accounting for dependencies among variables. We constructed HDPDs for 11 non-communicable diseases (NCDs) from a longitudinal health checkup cohort of 3,238 individuals, comprising 3,215 measurement items and genetic data. Improvement of biomarker values to the non-onset reg
Effective public health decisions require early reliable inference of infectious disease properties. In this paper we assess the ability to infer infectious disease attributes from population-level stochastic epidemic trajectories. In particular, we construct stochastic Kermack-McKendrick model trajectories, sample them with and without observational error, and evaluate inversions for the population mean infectiousness as a function of time since infection, the infection duration distribution, and its complementary cumulative distribution, the infection survival distribution. Based on an integro-differential equation formulation we employ a natural regression approach to fit the corresponding integral kernels and show that these disease attributes are recoverable from both multi-trajectory inversions and regularized single trajectory inversions. Moreover, we demonstrate that the infection duration distribution (or alternatively the infection survival distribution) and population mean infectiousness kernel recovered can be used to solve for the individual infectiousness profile, the infectiousness of an individual over the duration of their infection, assuming that individual infect
The Oregon Health Insurance Experiment (OHIE) offers a unique opportunity to examine the causal relationship between Medicaid coverage and happiness among low-income adults, using an experimental design. This study leverages data from comprehensive surveys conducted at 0 and 12 months post-treatment. Previous studies based on OHIE have shown that individuals receiving Medicaid exhibited a significant improvement in mental health compared to those who did not receive coverage. The primary objective is to explore how Medicaid coverage impacts happiness, specifically analyzing in which direction variations in healthcare spending significantly improve mental health: higher spending or lower spending after Medicaid. Utilizing instrumental variable (IV) regression, I conducted six separate regressions across subgroups categorized by expenditure levels and happiness ratings, and the results reveal distinct patterns. Enrolling in OHP has significantly decreased the probability of experiencing unhappiness, regardless of whether individuals had high or low medical spending. Additionally, it decreased the probability of being pretty happy and having high medical expenses, while increasing the
Disease Intelligence (DI) is based on the acquisition and aggregation of fragmented knowledge of diseases at multiple sources all over the world to provide valuable information to doctors, researchers and information seeking community. Some diseases have their own characteristics changed rapidly at different places of the world and are reported on documents as unrelated and heterogeneous information which may be going unnoticed and may not be quickly available. This research presents an Ontology based theoretical framework in the context of medical intelligence and country/region. Ontology is designed for storing information about rapidly spreading and changing diseases with incorporating existing disease taxonomies to genetic information of both humans and infectious organisms. It further maps disease symptoms to diseases and drug effects to disease symptoms. The machine understandable disease ontology represented as a website thus allows the drug effects to be evaluated on disease symptoms and exposes genetic involvements in the human diseases. Infectious agents which have no known place in an existing classification but have data on genetics would still be identified as organism
Selecting the right monitoring level in Remote Patient Monitoring (RPM) systems for e-healthcare is crucial for balancing patient outcomes, various resources, and patient's quality of life. A prior work has used one-dimensional health representations, but patient health is inherently multidimensional and typically consists of many measurable physiological factors. In this paper, we introduce a multidimensional health state model within the RPM framework and use dynamic programming to study optimal monitoring strategies. Our analysis reveals that the optimal control is characterized by switching curves (for two-dimensional health states) or switching hyper-surfaces (in general): patients switch to intensive monitoring when health measurements cross a specific multidimensional surface. We further study how the optimal switching curve varies for different medical conditions and model parameters. This finding of the optimal control structure provides actionable insights for clinicians and aids in resource planning. The tunable modeling framework enhances the applicability and effectiveness of RPM services across various medical conditions.
Sonification can provide valuable insights about data but most existing approaches are not designed to be controlled by the user in an interactive fashion. Interactions enable the designer of the sonification to more rapidly experiment with sound design and allow the sonification to be modified in real-time by interacting with various control parameters. In this paper, we describe two case studies of interactive sonification that utilize publicly available datasets that have been described recently in the International Conference on Auditory Display (ICAD). They are from the health and energy domains: electroencephalogram (EEG) alpha wave data and air pollutant data consisting of nitrogen dioxide, sulfur dioxide, carbon monoxide, and ozone. We show how these sonfications can be recreated to support interaction utilizing a general interactive sonification framework built using ChucK, Unity, and Chunity. In addition to supporting typical sonification methods that are common in existing sonification toolkits, our framework introduces novel methods such as supporting discrete events, interleaved playback of multiple data streams for comparison, and using frequency modulation (FM) synth
Modelling the progression of Degenerative Diseases (DD) is essential for detection, prevention, and treatment, yet it remains challenging due to the heterogeneity in disease trajectories among individuals. Factors such as demographics, genetic conditions, and lifestyle contribute to diverse phenotypical manifestations, necessitating patient stratification based on these variations. Recent methods like Subtype and Stage Inference (SuStaIn) have advanced unsupervised stratification of disease trajectories, but they face potential limitations in robustness, interpretability, and temporal granularity. To address these challenges, we introduce Disease Progression Modelling and Stratification (DP-MoSt), a novel probabilistic method that optimises clusters of continuous trajectories over a long-term disease time-axis while estimating the confidence of trajectory sub-types for each biomarker. We validate DP-MoSt using both synthetic and real-world data from the Parkinson's Progression Markers Initiative (PPMI). Our results demonstrate that DP-MoSt effectively identifies both sub-trajectories and subpopulations, and is a promising alternative to current state-of-the-art models.
Prognostics is concerned with predicting the future health of the equipment and any potential failures. With the advances in the Internet of Things (IoT), data-driven approaches for prognostics that leverage the power of machine learning models are gaining popularity. One of the most important categories of data-driven approaches relies on a predefined or learned health indicator to characterize the equipment condition up to the present time and make inference on how it is likely to evolve in the future. In these approaches, health indicator forecasting that constructs the health indicator curve over the lifespan using partially observed measurements (i.e., health indicator values within an initial period) plays a key role. Existing health indicator forecasting algorithms, such as the functional Empirical Bayesian approach, the regression-based formulation, a naive scenario matching based on the nearest neighbor, have certain limitations. In this paper, we propose a new `generative + scenario matching' algorithm for health indicator forecasting. The key idea behind the proposed approach is to first non-parametrically fit the underlying health indicator curve with a continuous Gauss
Language is a valuable source of clinical information in Alzheimer's Disease, as it declines concurrently with neurodegeneration. Consequently, speech and language data have been extensively studied in connection with its diagnosis. This paper summarises current findings on the use of artificial intelligence, speech and language processing to predict cognitive decline in the context of Alzheimer's Disease, detailing current research procedures, highlighting their limitations and suggesting strategies to address them. We conducted a systematic review of original research between 2000 and 2019, registered in PROSPERO (reference CRD42018116606). An interdisciplinary search covered six databases on engineering (ACM and IEEE), psychology (PsycINFO), medicine (PubMed and Embase) and Web of Science. Bibliographies of relevant papers were screened until December 2019. From 3,654 search results 51 articles were selected against the eligibility criteria. Four tables summarise their findings: study details (aim, population, interventions, comparisons, methods and outcomes), data details (size, type, modalities, annotation, balance, availability and language of study), methodology (pre-process
Mobile health has the potential to revolutionize health care delivery and patient engagement. In this work, we discuss how integrating Artificial Intelligence into digital health applications-focused on supply chain, patient management, and capacity building, among other use cases-can improve the health system and public health performance. We present an Artificial Intelligence and Reinforcement Learning platform that allows the delivery of adaptive interventions whose impact can be optimized through experimentation and real-time monitoring. The system can integrate multiple data sources and digital health applications. The flexibility of this platform to connect to various mobile health applications and digital devices and send personalized recommendations based on past data and predictions can significantly improve the impact of digital tools on health system outcomes. The potential for resource-poor settings, where the impact of this approach on health outcomes could be more decisive, is discussed specifically. This framework is, however, similarly applicable to improving efficiency in health systems where scarcity is not an issue.
Promoting healthy lifestyle behaviors remains a major public health concern, particularly due to their crucial role in preventing chronic conditions such as cancer, heart disease, and type 2 diabetes. Mobile health applications present a promising avenue for low-cost, scalable health behavior change promotion. Researchers are increasingly exploring adaptive algorithms that personalize interventions to each person's unique context. However, in empirical studies, mobile health applications often suffer from small effect sizes and low adherence rates, particularly in comparison to human coaching. Tailoring advice to a person's unique goals, preferences, and life circumstances is a critical component of health coaching that has been underutilized in adaptive algorithms for mobile health interventions. To address this, we introduce a new Thompson sampling algorithm that can accommodate personalized reward functions (i.e., goals, preferences, and constraints), while also leveraging data sharing across individuals to more quickly be able to provide effective recommendations. We prove that our modification incurs only a constant penalty on cumulative regret while preserving the sample comp
Electronic Health Record (EHR) has become an essential tool in the healthcare ecosystem, providing authorized clinicians with patients' health-related information for better treatment. While most developed countries are taking advantage of EHRs to improve their healthcare system, it remains challenging in developing countries to support clinical decision-making and public health using a computerized patient healthcare information system. This paper proposes a novel EHR architecture suitable for developing countries--an architecture that fosters inclusion and provides solutions tailored to all social classes and socioeconomic statuses. Our architecture foresees an internet-free (offline) solution to allow medical transactions between healthcare organizations, and the storage of EHRs in geographically underserved and rural areas. Moreover, we discuss how artificial intelligence can leverage anonymous health-related information to enable better public health policy and surveillance.
INTRODUCTION: Alzheimer's disease (AD) is genetically complex, complicating robust classification from genomic data. METHODS: We developed a transformer-based ensemble model (TrUE-Net) using Monte Carlo Dropout for uncertainty estimation in AD classification from whole-genome sequencing (WGS). We combined a transformer that preserves single-nucleotide polymorphism (SNP) sequence structure with a concurrent random forest using flattened genotypes. An uncertainty threshold separated samples into an uncertain (high-variance) group and a more certain (low-variance) group. RESULTS: We analyzed 1050 individuals, holding out half for testing. Overall accuracy and area under the receiver operating characteristic (ROC) curve (AUC) were 0.6514 and 0.6636, respectively. Excluding the uncertain group improved accuracy from 0.6263 to 0.7287 (10.24% increase) and F1 from 0.5843 to 0.8205 (23.62% increase). DISCUSSION: Monte Carlo Dropout-driven uncertainty helps identify ambiguous cases that may require further clinical evaluation, thus improving reliability in AD genomic classification.
Alzheimer's disease (AD) is a prominent, worldwide, age-related neurodegenerative disease that currently has no systemic treatment. Strong evidence suggests that permeable amyloid-beta peptide (Abeta) oligomers, astrogliosis and reactive astrocytosis cause neuronal damage in AD. A large amount of Abeta is secreted by astrocytes, which contributes to the total Abeta deposition in the brain. This suggests that astrocytes may also play a role in AD, leading to increased attention to their dynamics and associated mechanisms. Therefore, in the present study, we developed and evaluated novel stochastic models for Abeta growth using ADNI data to predict the effect of astrocytes on AD progression in a clinical trial. In the AD case, accurate prediction is required for a successful clinical treatment plan. Given that AD studies are observational in nature and involve routine patient visits, stochastic models provide a suitable framework for modelling AD. Using the approximate Bayesian computation (ABC) approach, the AD etiology may be modelled as a multi-state disease process. As a result, we use this approach to examine the weak and strong influence of astrocytes at multiple disease progre
Forecasting transmission of infectious diseases, especially for vector-borne diseases, poses unique challenges for researchers. Behaviors of and interactions between viruses, vectors, hosts, and the environment each play a part in determining the transmission of a disease. Public health surveillance systems and other sources provide valuable data that can be used to accurately forecast disease incidence. However, many aspects of common infectious disease surveillance data are imperfect: cases may be reported with a delay or in some cases not at all, data on vectors may not be available, and case data may not be available at high geographical or temporal resolution. In the face of these challenges, researchers must make assumptions to either account for these underlying processes in a mechanistic model or to justify their exclusion altogether in a statistical model. Whether a model is mechanistic or statistical, researchers should evaluate their model using accepted best practices from the emerging field of infectious disease forecasting while adopting conventions from other fields that have been developing forecasting methods for decades. Accounting for assumptions and properly eva