Hasil untuk "Neurology. Diseases of the nervous system"

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arXiv Open Access 2025
SciClaims: An End-to-End Generative System for Biomedical Claim Analysis

Raúl Ortega, José Manuel Gómez-Pérez

We present SciClaims, an interactive web-based system for end-to-end scientific claim analysis in the biomedical domain. Designed for high-stakes use cases such as systematic literature reviews and patent validation, SciClaims extracts claims from text, retrieves relevant evidence from PubMed, and verifies their veracity. The system features a user-friendly interface where users can input scientific text and view extracted claims, predictions, supporting or refuting evidence, and justifications in natural language. Unlike prior approaches, SciClaims seamlessly integrates the entire scientific claim analysis process using a single large language model, without requiring additional fine-tuning. SciClaims is optimized to run efficiently on a single GPU and is publicly available for live interaction.

en cs.CL, cs.AI
arXiv Open Access 2025
Trustworthy Chronic Disease Risk Prediction For Self-Directed Preventive Care via Medical Literature Validation

Minh Le, Khoi Ton

Chronic diseases are long-term, manageable, yet typically incurable conditions, highlighting the need for effective preventive strategies. Machine learning has been widely used to assess individual risk for chronic diseases. However, many models rely on medical test data (e.g. blood results, glucose levels), which limits their utility for proactive self-assessment. Additionally, to gain public trust, machine learning models should be explainable and transparent. Although some research on self-assessment machine learning models includes explainability, their explanations are not validated against established medical literature, reducing confidence in their reliability. To address these issues, we develop deep learning models that predict the risk of developing 13 chronic diseases using only personal and lifestyle factors, enabling accessible, self-directed preventive care. Importantly, we use SHAP-based explainability to identify the most influential model features and validate them against established medical literature. Our results show a strong alignment between the models' most influential features and established medical literature, reinforcing the models' trustworthiness. Critically, we find that this observation holds across 13 distinct diseases, indicating that this machine learning approach can be broadly trusted for chronic disease prediction. This work lays the foundation for developing trustworthy machine learning tools for self-directed preventive care. Future research can explore other approaches for models' trustworthiness and discuss how the models can be used ethically and responsibly.

en cs.LG, cs.CY
arXiv Open Access 2024
Joint model with latent disease age: overcoming the need for reference time

Juliette Ortholand, Nicolas Gensollen, Stanley Durrleman et al.

Introduction: Heterogeneity of the progression of neurodegenerative diseases is one of the main challenges faced in developing effective therapies. With the increasing number of large clinical databases, disease progression models have led to a better understanding of this heterogeneity. Nevertheless, these diseases may have no clear onset and biological underlying processes may start before the first symptoms. Such an ill-defined disease reference time is an issue for current joint models, which have proven their effectiveness by combining longitudinal and survival data. Objective In this work, we propose a joint non-linear mixed effect model with a latent disease age, to overcome this need for a precise reference time. Method: To do so, we utilized an existing longitudinal model with a latent disease age as a longitudinal sub-model and associated it with a survival sub-model that estimates a Weibull distribution from the latent disease age. We then validated our model on different simulated scenarios. Finally, we benchmarked our model with a state-of-the-art joint model and reference survival and longitudinal models on simulated and real data in the context of Amyotrophic Lateral Sclerosis (ALS). Results: On real data, our model got significantly better results than the state-of-the-art joint model for absolute bias (4.21(4.41) versus 4.24(4.14)(p-value=1.4e-17)), and mean cumulative AUC for right censored events (0.67(0.07) versus 0.61(0.09)(p-value=1.7e-03)). Conclusion: We showed that our approach is better suited than the state-of-the-art in the context where the reference time is not reliable. This work opens up the perspective to design predictive and personalized therapeutic strategies.

en stat.ME
arXiv Open Access 2024
Overcoming LLM Challenges using RAG-Driven Precision in Coffee Leaf Disease Remediation

Selva Kumar S, Afifah Khan Mohammed Ajmal Khan, Imadh Ajaz Banday et al.

This research introduces an innovative AI-driven precision agriculture system, leveraging YOLOv8 for disease identification and Retrieval Augmented Generation (RAG) for context-aware diagnosis. Focused on addressing the challenges of diseases affecting the coffee production sector in Karnataka, The system integrates sophisticated object detection techniques with language models to address the inherent constraints associated with Large Language Models (LLMs). Our methodology not only tackles the issue of hallucinations in LLMs, but also introduces dynamic disease identification and remediation strategies. Real-time monitoring, collaborative dataset expansion, and organizational involvement ensure the system's adaptability in diverse agricultural settings. The effect of the suggested system extends beyond automation, aiming to secure food supplies, protect livelihoods, and promote eco-friendly farming practices. By facilitating precise disease identification, the system contributes to sustainable and environmentally conscious agriculture, reducing reliance on pesticides. Looking to the future, the project envisions continuous development in RAG-integrated object detection systems, emphasizing scalability, reliability, and usability. This research strives to be a beacon for positive change in agriculture, aligning with global efforts toward sustainable and technologically enhanced food production.

en cs.IR, cs.CL
arXiv Open Access 2024
Chronic Obstructive Pulmonary Disease Prediction Using Deep Convolutional Network

Shahran Rahman Alve, Muhammad Zawad Mahmud, Samiha Islam et al.

Artificial intelligence and deep learning are increasingly applied in the clinical domain, particularly for early and accurate disease detection using medical imaging and sound. Due to limited trained personnel, there is a growing demand for automated tools to support clinicians in managing rising patient loads. Respiratory diseases such as cancer and diabetes remain major global health concerns requiring timely diagnosis and intervention. Auscultation of lung sounds, combined with chest X-rays, is an established diagnostic method for respiratory illness. This study presents a Deep Convolutional Neural Network (CNN)-based approach for the analysis of respiratory sound data to detect Chronic Obstructive Pulmonary Disease (COPD). Acoustic features extracted with the Librosa library, including Mel-Frequency Cepstral Coefficients (MFCCs), Mel-Spectrogram, Chroma, Chroma (Constant Q), and Chroma CENS, were used in training. The system also classifies disease severity as mild, moderate, or severe. Evaluation on the ICBHI database achieved 96% accuracy using 10-fold cross-validation and 90% accuracy without cross-validation. The proposed network outperforms existing methods, demonstrating potential as a practical tool for clinical deployment.

en eess.IV, cs.CV
arXiv Open Access 2024
Predictors of disease outbreaks at continentalscale in the African region: Insights and predictions with geospatial artificial intelligence using earth observations and routine disease surveillance data

Scott Pezanowski, Etien Luc Koua, Joseph C Okeibunor et al.

Objectives: Our research adopts computational techniques to analyze disease outbreaks weekly over a large geographic area while maintaining local-level analysis by incorporating relevant high-spatial resolution cultural and environmental datasets. The abundance of data about disease outbreaks gives scientists an excellent opportunity to uncover patterns in disease spread and make future predictions. However, data over a sizeable geographic area quickly outpace human cognition. Our study area covers a significant portion of the African continent (about 17,885,000 km2). The data size makes computational analysis vital to assist human decision-makers. Methods: We first applied global and local spatial autocorrelation for malaria, cholera, meningitis, and yellow fever case counts. We then used machine learning to predict the weekly presence of these diseases in the second-level administrative district. Lastly, we used machine learning feature importance methods on the variables that affect spread. Results: Our spatial autocorrelation results show that geographic nearness is critical but varies in effect and space. Moreover, we identified many interesting hot and cold spots and spatial outliers. The machine learning model infers a binary class of cases or none with the best F1 score of 0.96 for malaria. Machine learning feature importance uncovered critical cultural and environmental factors affecting outbreaks and variations between diseases. Conclusions: Our study shows that data analytics and machine learning are vital to understanding and monitoring disease outbreaks locally across vast areas. The speed at which these methods produce insights can be critical during epidemics and emergencies.

arXiv Open Access 2023
Gastrointestinal Disease Classification through Explainable and Cost-Sensitive Deep Neural Networks with Supervised Contrastive Learning

Dibya Nath, G. M. Shahariar

Gastrointestinal diseases pose significant healthcare chall-enges as they manifest in diverse ways and can lead to potential complications. Ensuring precise and timely classification of these diseases is pivotal in guiding treatment choices and enhancing patient outcomes. This paper introduces a novel approach on classifying gastrointestinal diseases by leveraging cost-sensitive pre-trained deep convolutional neural network (CNN) architectures with supervised contrastive learning. Our approach enables the network to learn representations that capture vital disease-related features, while also considering the relationships of similarity between samples. To tackle the challenges posed by imbalanced datasets and the cost-sensitive nature of misclassification errors in healthcare, we incorporate cost-sensitive learning. By assigning distinct costs to misclassifications based on the disease class, we prioritize accurate classification of critical conditions. Furthermore, we enhance the interpretability of our model by integrating gradient-based techniques from explainable artificial intelligence (AI). This inclusion provides valuable insights into the decision-making process of the network, aiding in understanding the features that contribute to disease classification. To assess the effectiveness of our proposed approach, we perform extensive experiments on a comprehensive gastrointestinal disease dataset, such as the Hyper-Kvasir dataset. Through thorough comparisons with existing works, we demonstrate the strong classification accuracy, robustness and interpretability of our model. We have made the implementation of our proposed approach publicly available at https://github.com/dibya404/Gastrointestinal-Disease-Classification-through-Explainable-and-Cost-Sensitive-DNN-with-SCL

en cs.CV
arXiv Open Access 2023
Learning Reduced-Order Linear Parameter-Varying Models of Nonlinear Systems

Patrick J. W. Koelewijn, Rajiv Sing, Peter Seiler et al.

In this paper, we consider the learning of a Reduced-Order Linear Parameter-Varying Model (ROLPVM) of a nonlinear dynamical system based on data. This is achieved by a two-step procedure. In the first step, we learn a projection to a lower dimensional state-space. In step two, an LPV model is learned on the reduced-order state-space using a novel, efficient parameterization in terms of neural networks. The improved modeling accuracy of the method compared to an existing method is demonstrated by simulation examples.

en eess.SY
arXiv Open Access 2023
Robust Nonlinear Optimal Control via System Level Synthesis

Antoine P. Leeman, Johannes Köhler, Andrea Zanelli et al.

This paper addresses the problem of finite horizon constrained robust optimal control for nonlinear systems subject to norm-bounded disturbances. To this end, the underlying uncertain nonlinear system is decomposed based on a first-order Taylor series expansion into a nominal system and an error (deviation) described as an uncertain linear time-varying system. This decomposition allows us to leverage system level synthesis to jointly optimize an affine error feedback, a nominal nonlinear trajectory, and, most importantly, a dynamic linearization error over-bound used to ensure robust constraint satisfaction for the nonlinear system. The proposed approach thereby results in less conservative planning compared with state-of-the-art techniques. We demonstrate the benefits of the proposed approach to control the rotational motion of a rigid body subject to state and input constraints.

en math.OC, eess.SY
arXiv Open Access 2022
Automatic Detection of Rice Disease in Images of Various Leaf Sizes

Kantip Kiratiratanapruk, Pitchayagan Temniranrat, Wasin Sinthupinyo et al.

Fast, accurate and affordable rice disease detection method is required to assist rice farmers tackling equipment and expertise shortages problems. In this paper, we focused on the solution using computer vision technique to detect rice diseases from rice field photograph images. Dealing with images took in real-usage situation by general farmers is quite challenging due to various environmental factors, and rice leaf object size variation is one major factor caused performance gradation. To solve this problem, we presented a technique combining a CNN object detection with image tiling technique, based on automatically estimated width size of rice leaves in the images as a size reference for dividing the original input image. A model to estimate leaf width was created by small size CNN such as 18 layer ResNet architecture model. A new divided tiled sub-image set with uniformly sized object was generated and used as input for training a rice disease prediction model. Our technique was evaluated on 4,960 images of eight different types of rice leaf diseases, including blast, blight, brown spot, narrow brown spot, orange, red stripe, rice grassy stunt virus, and streak disease. The mean absolute percentage error (MAPE) for leaf width prediction task evaluated on all eight classes was 11.18% in the experiment, indicating that the leaf width prediction model performed well. The mean average precision (mAP) of the prediction performance on YOLOv4 architecture was enhanced from 87.56% to 91.14% when trained and tested with the tiled dataset. According to our study, the proposed image tiling technique improved rice disease detection efficiency.

en cs.CV, cs.AI
arXiv Open Access 2022
About Digital Twins, agents, and multiagent systems: a cross-fertilisation journey

Stefano Mariani, Marco Picone, Alessandro Ricci

Digital Twins (DTs) are rapidly emerging as a fundamental brick of engineering cyber-physical systems, but their notion is still mostly bound to specific business domains (e.g. manufacturing), goals (e.g. product design), or application domains (e.g. the Internet of Things). As such, their value as general purpose engineering abstractions is yet to be fully revealed. In this paper, we relate DTs with agents and multiagent systems, as the latter are arguably the most rich abstractions available for the engineering of complex socio-technical and cyber-physical systems, and the former could both fill in some gaps in agent-oriented engineering and benefit from an agent-oriented interpretation -- in a cross-fertilisation journey.

arXiv Open Access 2022
Microbiome and metabolome insights into the role of the gastrointestinal-brain axis in neurodegenerative diseases: unveiling potential therapeutic targets

Helena U. Zacharias, Christoph Kaleta, Francois Cossais et al.

Due to the aging of the world population and westernization of lifestyles, the prevalence of neurodegenerative diseases such as Alzheimer's disease (AD) and Parkinson's disease (PD) is rapidly rising and is expected to put a strong socioeconomic burden on health systems worldwide. Due to the limited success of clinical trials of therapies against neurodegenerative diseases, research has extended its scope to a systems medicine point of view, with a particular focus on the gastrointestinal-brain axis as a potential main actor in disease development and progression. Microbiome as well as metabolome studies along the gastrointestinal-brain axis have already revealed important insights into disease pathomechanisms. Both the microbiome and metabolome can be easily manipulated by dietary and lifestyle interventions, and might thus offer novel, readily available therapeutic options to prevent the onset as well as the progression of PD and AD. This review summarizes our current knowledge on the association between microbiota, metabolites, and neurodegeneration in light of the gastrointestinal-brain axis. In this context, we also illustrate state-of-the art methods of microbiome and metabolome research as well as metabolic modeling that facilitate the identification of disease pathomechanisms. We conclude our review with therapeutic options to modulate microbiome composition to prevent or delay neurodegeneration and illustrate potential future research directions to fight PD and AD.

en q-bio.TO, q-bio.MN
arXiv Open Access 2022
Transfer Learning for Retinal Vascular Disease Detection: A Pilot Study with Diabetic Retinopathy and Retinopathy of Prematurity

Guan Wang, Yusuke Kikuchi, Jinglin Yi et al.

Retinal vascular diseases affect the well-being of human body and sometimes provide vital signs of otherwise undetected bodily damage. Recently, deep learning techniques have been successfully applied for detection of diabetic retinopathy (DR). The main obstacle of applying deep learning techniques to detect most other retinal vascular diseases is the limited amount of data available. In this paper, we propose a transfer learning technique that aims to utilize the feature similarities for detecting retinal vascular diseases. We choose the well-studied DR detection as a source task and identify the early detection of retinopathy of prematurity (ROP) as the target task. Our experimental results demonstrate that our DR-pretrained approach dominates in all metrics the conventional ImageNet-pretrained transfer learning approach, currently adopted in medical image analysis. Moreover, our approach is more robust with respect to the stochasticity in the training process and with respect to reduced training samples. This study suggests the potential of our proposed transfer learning approach for a broad range of retinal vascular diseases or pathologies, where data is limited.

en cs.LG, cs.CV
arXiv Open Access 2021
Subtyping patients with chronic disease using longitudinal BMI patterns

Md Mozaharul Mottalib, Jessica C Jones-Smith, Bethany Sheridan et al.

Obesity is a major health problem, increasing the risk of various major chronic diseases, such as diabetes, cancer, and stroke. While the role of obesity identified by cross-sectional BMI recordings has been heavily studied, the role of BMI trajectories is much less explored. In this study, we use a machine-learning approach to subtype individuals' risk of developing 18 major chronic diseases by using their BMI trajectories extracted from a large and geographically diverse EHR dataset capturing the health status of around two million individuals for a period of six years. We define nine new interpretable and evidence-based variables based on the BMI trajectories to cluster the patients into subgroups using the k-means clustering method. We thoroughly review each cluster's characteristics in terms of demographic, socioeconomic, and physiological measurement variables to specify the distinct properties of the patients in the clusters. In our experiments, the direct relationship of obesity with diabetes, hypertension, Alzheimer's, and dementia has been re-established and distinct clusters with specific characteristics for several of the chronic diseases have been found to be conforming or complementary to the existing body of knowledge.

arXiv Open Access 2021
OpenClinicalAI: enabling AI to diagnose diseases in real-world clinical settings

Yunyou Huang, Nana Wang, Suqin Tang et al.

This paper quantitatively reveals the state-of-the-art and state-of-the-practice AI systems only achieve acceptable performance on the stringent conditions that all categories of subjects are known, which we call closed clinical settings, but fail to work in real-world clinical settings. Compared to the diagnosis task in the closed setting, real-world clinical settings pose severe challenges, and we must treat them differently. We build a clinical AI benchmark named Clinical AIBench to set up real-world clinical settings to facilitate researches. We propose an open, dynamic machine learning framework and develop an AI system named OpenClinicalAI to diagnose diseases in real-world clinical settings. The first versions of Clinical AIBench and OpenClinicalAI target Alzheimer's disease. In the real-world clinical setting, OpenClinicalAI significantly outperforms the state-of-the-art AI system. In addition, OpenClinicalAI develops personalized diagnosis strategies to avoid unnecessary testing and seamlessly collaborates with clinicians. It is promising to be embedded in the current medical systems to improve medical services.

en cs.AI
arXiv Open Access 2021
Hierarchical Knowledge Guided Learning for Real-world Retinal Diseases Recognition

Lie Ju, Zhen Yu, Lin Wang et al.

In the real world, medical datasets often exhibit a long-tailed data distribution (i.e., a few classes occupy the majority of the data, while most classes have only a limited number of samples), which results in a challenging long-tailed learning scenario. Some recently published datasets in ophthalmology AI consist of more than 40 kinds of retinal diseases with complex abnormalities and variable morbidity. Nevertheless, more than 30 conditions are rarely seen in global patient cohorts. From a modeling perspective, most deep learning models trained on these datasets may lack the ability to generalize to rare diseases where only a few available samples are presented for training. In addition, there may be more than one disease for the presence of the retina, resulting in a challenging label co-occurrence scenario, also known as \textit{multi-label}, which can cause problems when some re-sampling strategies are applied during training. To address the above two major challenges, this paper presents a novel method that enables the deep neural network to learn from a long-tailed fundus database for various retinal disease recognition. Firstly, we exploit the prior knowledge in ophthalmology to improve the feature representation using a hierarchy-aware pre-training. Secondly, we adopt an instance-wise class-balanced sampling strategy to address the label co-occurrence issue under the long-tailed medical dataset scenario. Thirdly, we introduce a novel hybrid knowledge distillation to train a less biased representation and classifier. We conducted extensive experiments on four databases, including two public datasets and two in-house databases with more than one million fundus images. The experimental results demonstrate the superiority of our proposed methods with recognition accuracy outperforming the state-of-the-art competitors, especially for these rare diseases.

en cs.CV
CrossRef Open Access 2021
W. G. Spiller. Fridreich's disease. Fridreich’s ataxia. — Journ. of Nervous and Ment. Diseases, 1910, № 7

Vitaliy N. Likhnitsky

The author describes 2 cases of Fridreichs disease (one of them with autopsy); both of them represent the peculiarity that, along with the typical symptoms of this disease, they had rather pronounced atrophy of the muscles of the arms and legs, and atrophic phenomena prevailed in the peripheral parts of the upper and lower extremities

arXiv Open Access 2020
Effect of population migration and punctuated lockdown on the spread of infectious diseases

Ravi Kiran, Madhumita Roy, Syed Abbas et al.

One of the critical measures to control infectious diseases is a lockdown. Once past the lockdown stage in many parts of the world, the crucial question now concerns the effects of relaxing the lockdown and finding the best ways to implement further lockdown(s), if required, to control the spread. With the relaxation of lockdown, people migrate to different cities and enhance the spread of the disease. This work presents the population migration model for n-cities and applies the model for migration between two and three cities. The reproduction number is calculated, and the effect of the migration rate is analyzed. A punctuated lockdown is implemented to simulate a protocol of repeated lockdowns that limits the resurgence of infections. A damped oscillatory behavior is observed with multiple peaks over a period.

en q-bio.PE, physics.soc-ph

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