Auscultation remains a cornerstone of clinical practice, essential for both initial evaluation and continuous monitoring. Clinicians listen to the lung sounds and make a diagnosis by combining the patient's medical history and test results. Given this strong association, multitask learning (MTL) can offer a compelling framework to simultaneously model these relationships, integrating respiratory sound patterns with disease manifestations. While MTL has shown considerable promise in medical applications, a significant research gap remains in understanding the complex interplay between respiratory sounds, disease manifestations, and patient metadata attributes. This study investigates how integrating MTL with cutting-edge deep learning architectures can enhance both respiratory sound classification and disease diagnosis. Specifically, we extend recent findings regarding the beneficial impact of metadata on respiratory sound classification by evaluating its effectiveness within an MTL framework. Our comprehensive experiments reveal significant improvements in both lung sound classification and diagnostic performance when the stethoscope information is incorporated into the MTL archite
Respiratory diseases impose a significant burden on global health, with current diagnostic and management practices primarily reliant on specialist clinical testing. This work aims to develop machine learning-based algorithms to facilitate at-home respiratory disease monitoring and assessment for patients undergoing continuous positive airway pressure (CPAP) therapy. Data were collected from 30 healthy adults, encompassing respiratory pressure, flow, and dynamic thoraco-abdominal circumferential measurements under three breathing conditions: normal, panting, and deep breathing. Various machine learning models, including the random forest classifier, logistic regression, and support vector machine (SVM), were trained to predict breathing types. The random forest classifier demonstrated the highest accuracy, particularly when incorporating breathing rate as a feature. These findings support the potential of AI-driven respiratory monitoring systems to transition respiratory assessments from clinical settings to home environments, enhancing accessibility and patient autonomy. Future work involves validating these models with larger, more diverse populations and exploring additional mac
Respiratory diseases remain a leading cause of global mortality, where timely and accurate diagnosis is critical to improving patient outcomes and reducing healthcare burdens. While prior work has explored audio-based models for respiratory disease detection, such unimodal approaches often suffer from limited generalizability and diagnostic precision. In this paper, we propose RespiraMFM, a Multimodal Foundation Model that integrates respiratory sounds with patient medical history and symptoms to enhance diagnostic accuracy and disease detection capabilities. We introduce an effective contrastive alignment strategy for audio-text multimodal integration, allowing the model to learn better cross-modal representations between respiratory sounds and corresponding textual clinical information. We evaluate RespiraMFM across five major respiratory diseases using seven real-world datasets in both supervised fine-tuning and zero-shot settings, achieving a 9.15% improvement in AUROC on supervised tasks and a 20.98% gain on zero-shot tasks over existing baselines. These findings underscore the potential of our framework to advance early diagnosis and improve clinical decision-making in respir
The labor-intensive nature of medical data annotation presents a significant challenge for respiratory disease diagnosis, resulting in a scarcity of high-quality labeled datasets in resource-constrained settings. Moreover, patient privacy concerns complicate the direct sharing of local medical data across institutions, and existing centralized data-driven approaches, which rely on amounts of available data, often compromise data privacy. This study proposes a federated few-shot learning framework with privacy-preserving mechanisms to address the issues of limited labeled data and privacy protection in diagnosing respiratory diseases. In particular, a meta-stochastic gradient descent algorithm is proposed to mitigate the overfitting problem that arises from insufficient data when employing traditional gradient descent methods for neural network training. Furthermore, to ensure data privacy against gradient leakage, differential privacy noise from a standard Gaussian distribution is integrated into the gradients during the training of private models with local data, thereby preventing the reconstruction of medical images. Given the impracticality of centralizing respiratory disease d
Compared with invasive examinations that require tissue sampling, respiratory sound testing is a non-invasive examination method that is safer and easier for patients to accept. In this study, we introduce Rene, a pioneering large-scale model tailored for respiratory sound recognition. Rene has been rigorously fine-tuned with an extensive dataset featuring a broad array of respiratory audio samples, targeting disease detection, sound pattern classification, and event identification. Our innovative approach applies a pre-trained speech recognition model to process respiratory sounds, augmented with patient medical records. The resulting multi-modal deep-learning framework addresses interpretability and real-time diagnostic challenges that have hindered previous respiratory-focused models. Benchmark comparisons reveal that Rene significantly outperforms existing models, achieving improvements of 10.27%, 16.15%, 15.29%, and 18.90% in respiratory event detection and audio classification on the SPRSound database. Disease prediction accuracy on the ICBHI database improved by 23% over the baseline in both mean average and harmonic scores. Moreover, we have developed a real-time respirator
Cough acoustics contain multitudes of vital information about pathomorphological alterations in the respiratory system. Reliable and accurate detection of cough events by investigating the underlying cough latent features and disease diagnosis can play an indispensable role in revitalizing the healthcare practices. The recent application of Artificial Intelligence (AI) and advances of ubiquitous computing for respiratory disease prediction has created an auspicious trend and myriad of future possibilities in the medical domain. In particular, there is an expeditiously emerging trend of Machine learning (ML) and Deep Learning (DL)-based diagnostic algorithms exploiting cough signatures. The enormous body of literature on cough-based AI algorithms demonstrate that these models can play a significant role for detecting the onset of a specific respiratory disease. However, it is pertinent to collect the information from all relevant studies in an exhaustive manner for the medical experts and AI scientists to analyze the decisive role of AI/ML. This survey offers a comprehensive overview of the cough data-driven ML/DL detection and preliminary diagnosis frameworks, along with a detailed
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
In December 2019, a novel coronavirus (SARS-CoV-2) has been identified to cause acute respiratory disease in humans. An outbreak of this disease has been reported in mainland China with the city of Wuhan as the recognized epicenter. The disease has also been exported to other countries, including the Philippines, but the level of spread is still under control (as of 08 February 2020). To describe and predict the dynamics of the disease, several preliminary mathematical models are formulated by various international study groups. Here, the insights that can be drawn from these models are discussed, especially as inputs for designing strategies to control the epidemics. Proposed model-based strategies on how to prevent the spread of the disease in local setting, such as during large social gatherings, are also presented. The model shows that the exposure time is a significant factor in spreading the disease. With a basic reproduction number equal to 2, and 14-day infectious period, an infected person staying more than 9 hours in the event could infect other people. Assuming the exposure time is 18 hours, the model recommends that attendees of the social gathering should have a protec
This study presents a novel method for diagnosing respiratory diseases using image data. It combines Epanechnikov's non-parametric kernel density estimation (EKDE) with a bimodal logistic regression classifier in a statistical-model-based learning scheme. EKDE's flexibility in modeling data distributions without assuming specific shapes and its adaptability to pixel intensity variations make it valuable for extracting key features from medical images. The method was tested on 13808 randomly selected chest X-rays from the COVID-19 Radiography Dataset, achieved an accuracy of 70.14%, a sensitivity of 59.26%, and a specificity of 74.18%, demonstrating moderate performance in detecting respiratory disease while showing room for improvement in sensitivity. While clinical expertise remains essential for further refining the model, this study highlights the potential of EKDE-based approaches to enhance diagnostic accuracy and reliability in medical imaging.
Respiratory diseases, including asthma, bronchitis, pneumonia, and upper respiratory tract infection (RTI), are among the most common diseases in clinics. The similarities among the symptoms of these diseases precludes prompt diagnosis upon the patients' arrival. In pediatrics, the patients' limited ability in expressing their situation makes precise diagnosis even harder. This becomes worse in primary hospitals, where the lack of medical imaging devices and the doctors' limited experience further increase the difficulty of distinguishing among similar diseases. In this paper, a pediatric fine-grained diagnosis-assistant system is proposed to provide prompt and precise diagnosis using solely clinical notes upon admission, which would assist clinicians without changing the diagnostic process. The proposed system consists of two stages: a test result structuralization stage and a disease identification stage. The first stage structuralizes test results by extracting relevant numerical values from clinical notes, and the disease identification stage provides a diagnosis based on text-form clinical notes and the structured data obtained from the first stage. A novel deep learning algor
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 metabol
Respiratory diseases remain a leading cause of mortality worldwide, highlighting the need for faster and more accurate diagnostic tools. This work presents a novel approach leveraging digital stethoscope technology for automatic respiratory disease classification and biometric analysis. Our approach has the potential to significantly enhance traditional auscultation practices. By leveraging one of the largest publicly available medical database of respiratory sounds, we train machine learning models to classify various respiratory health conditions. Our method differs from conventional methods by using Empirical Mode Decomposition (EMD) and spectral analysis techniques to isolate clinically relevant biosignals embedded within acoustic data captured by digital stethoscopes. This approach focuses on information closely tied to cardiovascular and respiratory patterns within the acoustic data. Spectral analysis and filtering techniques isolate Intrinsic Mode Functions (IMFs) strongly correlated with these physiological phenomena. These biosignals undergo a comprehensive feature extraction process for predictive modeling. These features then serve as input to train several machine learn
This paper presents an explainable artificial intelligence (XAI)-based framework for the spectral analysis of cough sounds associated with chronic respiratory diseases, with a particular focus on Chronic Obstructive Pulmonary Disease (COPD). A Convolutional Neural Network (CNN) is trained on time-frequency representations of cough signals, and occlusion maps are used to identify diagnostically relevant regions within the spectrograms. These highlighted areas are subsequently decomposed into five frequency subbands, enabling targeted spectral feature extraction and analysis. The results reveal that spectral patterns differ across subbands and disease groups, uncovering complementary and compensatory trends across the frequency spectrum. Noteworthy, the approach distinguishes COPD from other respiratory conditions, and chronic from non-chronic patient groups, based on interpretable spectral markers. These findings provide insight into the underlying pathophysiological characteristics of cough acoustics and demonstrate the value of frequency-resolved, XAI-enhanced analysis for biomedical signal interpretation and translational respiratory disease diagnostics.
The respiratory viral diseases, such as those caused by the family of coronaviruses, can be extremely contagious and spread through saliva droplets generated by coughing, sneezing, or breathing. In humans, the most common symptoms of the infection include fever and difficulty in breathing. In order to reduce the diffusion of the current "Coronavirus disease 2019 (COVID-19)" pandemic, the Internet of Things (IoT) technologies can play an important role; for instance, they can be effectively used for implementing a real-time patient tracking and warning system at a city scale. Crucial places to install the tracking IoT devices are the public/private vehicles that, augmented with multiple connectivity solutions, can implement the Internet of Vehicles (IoV) paradigm. In such a ubiquitous network environment, vehicles are equipped with a variety of sensors, including regular cameras that can be replaced with thermal cameras. Therefore, this paper proposes a new design for widely detecting respiratory viral diseases that leverages IoV to collect real-time body temperature and breathing rate measurements of pedestrians. This information can be used to recognize geographic areas affected b
Real-time analysis of epidemic trends and forecasts can help support public health planning and the response to seasonal respiratory disease. Here, we present two models that were used in a 2025 New Zealand winter situational assessment programme for three respiratory pathogens: SARS-CoV-2, influenza and respiratory syncytial virus (RSV). Data on SARS-CoV-2 were obtained from the national Covid-19 surveillance system; data on influenza and RSV were limited to a sentinel hospital surveillance programme. Models were run weekly from May to October 2025 on these real-time disease surveillance data and provided a quantitative representation of the current epidemic trend, along with estimates of the epidemic growth rate and 28-day ahead forecasts of case incidence. Model results and interpretation were provided in weekly reports to public health partners as part of a trans-Tasman winter programme run by the Australia--Aotearoa Consortium for Epidemic Forecasting and Analytics (ACEFA). We compare in-season results that were included in these reports to a retrospective analysis of the complete data for the season. We conclude that real-time analyses performed reasonably well, and identify
Respiratory modulation of sympathetic nerve activity (respSNA) was studied in a hypertensive rodent model of chronic kidney disease (CKD) using Lewis Polycystic Kidney (LPK) rats and Lewis controls. In adult animals under in vivo anaesthetised conditions (n=8-10/strain), respiratory modulation of splanchnic and renal nerve activity was compared under control conditions, and during peripheral (hypoxia), and central, chemoreceptor (hypercapnia) challenge. RespSNA was increased in the LPK vs. Lewis (area under curve (AUC) splanchnic and renal: 8.7$\pm$1.1 vs. 3.5$\pm$0.5 and 10.6$\pm$1.1 vs. 7.1$\pm$0.2 $μ$V.s, respectively, P<0.05). Hypoxia and hypercapnia increased respSNA in both strains but the magnitude of the response was greater in LPK, particularly in response to hypoxia. In juvenile animals studied using a working heart brainstem preparation (n=7-10/strain), increased respSNA was evident in the LPK (thoracic SNA, AUC: 0.86$\pm$0.1 vs. 0.42$\pm$0.1 $μ$V.s, P<0.05), and activation of peripheral chemoreceptors (NaCN) again drove a larger increase in respSNA in the LPK with no difference in the response to hypercapnia. Amplified respSNA occurs in CKD and may contribute to t
We seek to identify genes involved in Parkinson's Disease (PD) by combining information across different experiment types. Each experiment, taken individually, may contain too little information to distinguish some important genes from incidental ones. However, when experiments are combined using the proposed statistical framework, additional power emerges. The fundamental building block of the family of statistical models that we propose is a hierarchical three-group mixture of distributions. Each gene is modeled probabilistically as belonging to either a null group that is unassociated with PD, a deleterious group, or a beneficial group. This three-group formalism has two key features. By apportioning prior probability of group assignments with a Dirichlet distribution, the resultant posterior group probabilities automatically account for the multiplicity inherent in analyzing many genes simultaneously. By building models for experimental outcomes conditionally on the group labels, any number of data modalities may be combined in a single coherent probability model, allowing information sharing across experiment types. These two features result in parsimonious inference with few
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
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.
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