搜索结果：Ethnicity & disease

During the COVID-19 pandemic, Aotearoa followed an elimination strategy followed by a mitigation strategy, which saw high success and kept health impact low. However, there were inequities in health outcomes, notably that Māori and Pacific Peoples had lower vaccine coverage and experienced higher age-standardised rates of hospitalisation and death. Models provide predictions of disease spread and burden, which can effectively inform policy, but are often less good at including inequities/heterogeneity. Despite the differences in health outcomes, most models have not explicitly considered ethnic heterogeneities as factors. We developed such a model to investigate the first Omicron wave of the COVID-19 pandemic in Aotearoa, which was the first widespread community transmission of SARS-CoV-2. We analysed three models for contact patterns within and between ethnicities: proportionate, assortative, and unconstrained mixing, which were fit using ethnicity-specific data on reported cases and spatially disaggregated population counts. We found that Māori, Pacific, and Asian transmission rates were between 1.08-2.46, 1.50-3.89, and 0.80-0.92 times the European rates, respectively. We then f

Precision medicine aims to create biomedical solutions tailored to specific factors that affect disease risk and treatment responses within the population. The success of the genomics era and recent widespread availability of electronic health records (EHR) has ushered in a new wave of genomic biobanks connected to EHR databases (EHR-linked biobanks). This perspective aims to discuss how race, ethnicity, and genetic ancestry are currently utilized to study common disease variation through genetic association studies. Although genetic ancestry plays a significant role in shaping the genetic landscape underlying disease risk in humans, the overall risk of a disease is caused by a complex combination of environmental, sociocultural, and genetic factors. When using EHR-linked biobanks to interrogate underlying disease etiology, it is also important to be aware of how the biases associated with commonly used descent-associated concepts such as race and ethnicity can propagate to downstream analyses. We intend for this resource to support researchers who perform or analyze genetic association studies in the EHR-linked biobank setting such as those involved in consortium-wide biobanking e

Previous pandemics, including influenza pandemics and Covid-19, have disproportionately impacted Māori and Pacific populations in Aotearoa New Zealand. The reasons for this are multi-faceted, including differences in socioeconomic deprivation, housing conditions and household size, vaccination rates, access to healthcare, and prevalence of pre-existing health conditions. Many mathematical models that were used to inform the response to the Covid-19 pandemic did not explicitly include ethnicity or other socioeconomic variables. This limited their ability to predict, understand and mitigate inequitable impacts of the pandemic. Here, we extend a model that was developed during the Covid-19 pandemic to support the public health response by stratifying the population into four ethnicity groups: Māori, Pacific, Asian and European/other. We include three ethnicity-specific components in the model: vaccination rates, clinical severity parameters, and contact patterns. We compare model results to ethnicity-specific data on Covid-19 cases, hospital admissions and deaths between 1 January 2022 and 30 June 2023, under different model scenarios in which these ethnicity-specific components are p

Anonymized electronic medical records are an increasingly popular source of research data. However, these datasets often lack race and ethnicity information. This creates problems for researchers modeling human disease, as race and ethnicity are powerful confounders for many health exposures and treatment outcomes; race and ethnicity are closely linked to population-specific genetic variation. We showed that deep neural networks generate more accurate estimates for missing racial and ethnic information than competing methods (e.g., logistic regression, random forest). RIDDLE yielded significantly better classification performance across all metrics that were considered: accuracy, cross-entropy loss (error), and area under the curve for receiver operating characteristic plots (all $p < 10^{-6}$). We made specific efforts to interpret the trained neural network models to identify, quantify, and visualize medical features which are predictive of race and ethnicity. We used these characterizations of informative features to perform a systematic comparison of differential disease patterns by race and ethnicity. The fact that clinical histories are informative for imputing race and et

Digital traces of daily activities, such as e-commerce (EC) purchase histories, provide scalable signals for public health surveillance, yet their epidemiological validity remains unclear. This study validates a behavioral proxy for disease onset, defined as transitions from regular to therapeutic diets, by comparing large-scale EC data (N=55,645) against independent insurance-derived clinical records. Using feline lower urinary tract disease (FLUTD) as a case study, the proxy showed strong agreement with clinical data for ingredient-level risk patterns (r=0.74) and seasonal dynamics (r=0.82). Furthermore, analysis using EC data alone reproduced the established protective association of wet food consumption. These results demonstrate that validated behavioral signals from EC data can serve as cost-effective complements to traditional surveillance, with potential applicability to monitoring lifestyle-related diseases in human populations.

Coronary Artery Disease (CAD) remains a leading cause of morbidity and mortality worldwide. Early detection is critical to recover patient outcomes and decrease healthcare costs. In recent years, machine learning (ML) advancements have shown significant potential in enhancing the accuracy of CAD diagnosis. This study investigates the application of ML algorithms to improve the detection of CAD by analyzing patient data, including clinical features, imaging, and biomarker profiles. Bi-directional Long Short-Term Memory (Bi-LSTM), Gated Recurrent Units (GRU), and a hybrid of Bi-LSTM+GRU were trained on large datasets to predict the presence of CAD. Results demonstrated that these ML models outperformed traditional diagnostic methods in sensitivity and specificity, offering a robust tool for clinicians to make more informed decisions. The experimental results show that the hybrid model achieved an accuracy of 97.07%. By integrating advanced data preprocessing techniques and feature selection, this study ensures optimal learning and model performance, setting a benchmark for the application of ML in CAD diagnosis. The integration of ML into CAD detection presents a promising avenue for

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.

Identifying objective neuroimaging biomarkers to forecast Alzheimer's disease (AD) progression is crucial for timely intervention. However, this task remains challenging due to the complex dysfunctions in the spatio-temporal characteristics of underlying brain networks, which are often overlooked by existing methods. To address these limitations, we develop an interpretable spatio-temporal graph neural network framework to predict future AD progression, leveraging dual Stochastic Differential Equations (SDEs) to model the irregularly-sampled longitudinal functional magnetic resonance imaging (fMRI) data. We validate our approach on two independent cohorts, including the Open Access Series of Imaging Studies (OASIS-3) and the Alzheimer's Disease Neuroimaging Initiative (ADNI). Our framework effectively learns sparse regional and connective importance probabilities, enabling the identification of key brain circuit abnormalities associated with disease progression. Notably, we detect the parahippocampal cortex, prefrontal cortex, and parietal lobule as salient regions, with significant disruptions in the ventral attention, dorsal attention, and default mode networks. These abnormaliti

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 systemic, metabolic, lifestyle factors have established associations with Alzheimer's Disease (AD) through epidemiologic and AD-specific biomarker studies. Whether colored fundus photography (CFP) contains retinal structural signatures corresponding to these AD-related risk domains remains unclear. To determine whether deep learning (DL) models can predict 12 AD-related risk factors from CFP and to characterize the retinal structures underlying these predictions, thereby assessing whether CFP reflects pathways to AD vulnerability. Using 62,876 CFPs from 44,501 unique participants from the UK Biobank, DL models were trained to predict 12 factors linked to AD incidence: 6 categorical (sex, smoking, sleeplessness, economic status, alcohol use, depression) and 6 continuous (age, age at completing education, BMI, systolic, diastolic blood pressure, HbA1c). Model performance, model saliency, and saliency-derived scores (CAM-Score) were evaluated and compared to retinal morphometry. The scores were also compared between incident-AD cases (average 8.55 years before onset) and matched controls. Performance of DL ranged from AUROC= 0.5654-0.9480 for categorical and R2=-0.0291-0.7620 for

Simulating prospective magnetic resonance imaging (MRI) scans from a given individual brain image is challenging, as it requires accounting for canonical changes in aging and/or disease progression while also considering the individual brain's current status and unique characteristics. While current deep generative models can produce high-resolution anatomically accurate templates for population-wide studies, their ability to predict future aging trajectories for individuals remains limited, particularly in capturing subject-specific neuroanatomical variations over time. In this study, we introduce Individualized Brain Synthesis (InBrainSyn), a framework for synthesizing high-resolution subject-specific longitudinal MRI scans that simulate neurodegeneration in both Alzheimer's disease (AD) and normal aging. InBrainSyn uses a parallel transport algorithm to adapt the population-level aging trajectories learned by a generative deep template network, enabling individualized aging synthesis. As InBrainSyn uses diffeomorphic transformations to simulate aging, the synthesized images are topologically consistent with the original anatomy by design. We evaluated InBrainSyn both quantitativ

Globalization and the world wide web has resulted in academia and science being an international and multicultural community forged by researchers and scientists with different ethnicities. How ethnicity shapes the evolution of membership, status and interactions of the scientific community, however, is not well understood. This is due to the difficulty of ethnicity identification at the large scale. We use name ethnicity classification as an indicator of ethnicity. Based on automatic name ethnicity classification of 1.7+ million authors gathered from Web, the name ethnicity of computer science scholars is investigated by population size, publication contribution and collaboration strength. By showing the evolution of name ethnicity from 1936 to 2010, we discover that ethnicity diversity has increased significantly over time and that different research communities in certain publication venues have different ethnicity compositions. We notice a clear rise in the number of Asian name ethnicities in papers. Their fraction of publication contribution increases from approximately 10% to near 50% from 1970 to 2010. We also find that name ethnicity acts as a homophily factor on coauthor n

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

Estimating brain age (BA) from T1-weighted magnetic resonance images (MRIs) provides a powerful framework for quantifying anatomical brain aging. Whereas global BA (GBA) summarizes overall brain health, local BA (LBA) provides cortically specific patterns of aging at the subject level. Although previous studies have examined anatomical contributors to GBA, to our knowledge, no framework has been established to estimate LBA using cortical morphology. To address this gap, we introduce a graph neural network (GNN) that uses morphometric features$\unicode{x2013}$cortical thickness, surface area, curvature, gray/white matter intensity ratio (GWR), sulcal depth$\unicode{x2013}$to estimate LBA across the cortical surface at high spatial resolution (mean inter-vertex distance = 1.37 mm). Trained on cortical surface meshes extracted from the MRIs of cognitively normal (CN) adults (N = 14,423), our model achieves lower mean absolute error (MAE) than the existing state-of-the-art while identifying more biologically plausible patterns of aging in Alzheimer's disease (AD) on the ADNI dataset. Association cortices emerge as primary sites of morphometric aging in CNs, whereas mild cognitive impai

We use place of birth information from the Social Security Administration linked to earnings data from the Longitudinal Employer-Household Dynamics Program and detailed race and ethnicity data from the 2010 Census to study how long-term earnings differentials vary by place of birth for different self-identified race and ethnicity categories. We focus on foreign-born persons from countries that are heavily Hispanic and from countries in the Middle East and North Africa (MENA). We find substantial heterogeneity of long-term earnings differentials within country of birth, some of which will be difficult to detect when the reporting format changes from the current two-question version to the new single-question version because they depend on self-identifications that place the individual in two distinct categories within the single-question format, specifically, Hispanic and White or Black, and MENA and White or Black. We also study the USA-born children of these same immigrants. Long-term earnings differences for the 2nd generation also vary as a function of self-identified ethnicity and race in ways that changing to the single-question format could affect.

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.

Numerous studies have shown that existing Face Recognition Systems (FRS), including commercial ones, often exhibit biases toward certain ethnicities due to under-represented data. In this work, we explore ethnicity alteration and skin tone modification using synthetic face image generation methods to increase the diversity of datasets. We conduct a detailed analysis by first constructing a balanced face image dataset representing three ethnicities: Asian, Black, and Indian. We then make use of existing Generative Adversarial Network-based (GAN) image-to-image translation and manifold learning models to alter the ethnicity from one to another. A systematic analysis is further conducted to assess the suitability of such datasets for FRS by studying the realistic skin-tone representation using Individual Typology Angle (ITA). Further, we also analyze the quality characteristics using existing Face image quality assessment (FIQA) approaches. We then provide a holistic FRS performance analysis using four different systems. Our findings pave the way for future research works in (i) developing both specific ethnicity and general (any to any) ethnicity alteration models, (ii) expanding suc

Understanding the progression trajectories of diseases is crucial for early diagnosis and effective treatment planning. This is especially vital for life-threatening conditions such as Idiopathic Pulmonary Fibrosis (IPF), a chronic, progressive lung disease with a prognosis comparable to many cancers. Computed tomography (CT) imaging has been established as a reliable diagnostic tool for IPF. Accurately predicting future CT scans of early-stage IPF patients can aid in developing better treatment strategies, thereby improving survival outcomes. In this paper, we propose 4D Vector Quantised Generative Adversarial Networks (4D-VQ-GAN), a model capable of generating realistic CT volumes of IPF patients at any time point. The model is trained using a two-stage approach. In the first stage, a 3D-VQ-GAN is trained to reconstruct CT volumes. In the second stage, a Neural Ordinary Differential Equation (ODE) based temporal model is trained to capture the temporal dynamics of the quantised embeddings generated by the encoder in the first stage. We evaluate different configurations of our model for generating longitudinal CT scans and compare the results against ground truth data, both quanti

There is active debate over whether to consider patient race and ethnicity when estimating disease risk. By accounting for race and ethnicity, it is possible to improve the accuracy of risk predictions, but there is concern that their use may encourage a racialized view of medicine. In diabetes risk models, despite substantial gains in statistical accuracy from using race and ethnicity, the gains in clinical utility are surprisingly modest. These modest clinical gains stem from two empirical patterns: first, the vast majority of individuals receive the same screening recommendation regardless of whether race or ethnicity are included in risk models; and second, for those who do receive different screening recommendations, the difference in utility between screening and not screening is relatively small. Our results are based on broad statistical principles, and so are likely to generalize to many other risk-based clinical decisions.