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 osteoporosis


ProtoMedX: Towards Explainable Multi-Modal Prototype Learning for Bone Health Classification

Pellicer, Alvaro Lopez, Mariucci, Andre, Angelov, Plamen, Bukhari, Marwan, Kerns, Jemma G.

arXiv.org Artificial Intelligence

Bone health studies are crucial in medical practice for the early detection and treatment of Osteopenia and Osteoporosis. Clinicians usually make a diagnosis based on densitometry (DEXA scans) and other patient history. The applications of AI in this field are an ongoing research. Most of the successful methods for this task include Deep Learning models that rely on vision alone (DEXA / X-ray imagery) geared towards high prediction accuracy, where ex-plainability is disregarded and largely based on the post hoc assessment of input contributions. W e propose ProtoMedX, a multi-modal model that uses both DEXA scans of the lumbar spine and patient records. ProtoMedX's prototype-based architecture is explainable by design, crucial for medical applications, especially in the context of the upcoming EU AI Act, as it allows explicit analysis of the model's decisions, especially the ones that are incorrect. ProtoMedX demonstrates state-of-the-art performance in bone health classification while also providing explanations that can be visually understood by clinicians. Using our dataset of 4,160 real NHS patients, the proposed ProtoMedX achieves 87.58% accuracy in vision-only tasks and 89.8% in its multi-modal variant, both approaches surpassing existing published methods.


Machine Learning Meets Transparency in Osteoporosis Risk Assessment: A Comparative Study of ML and Explainability Analysis

Elias, Farhana, Reza, Md Shihab, Mahmud, Muhammad Zawad, Islam, Samiha, Alve, Shahran Rahman

arXiv.org Artificial Intelligence

The present research tackles the difficulty of predicting osteoporosis risk via machine learning (ML) approaches, emphasizing the use of explainable artificial intelligence (XAI) to improve model transparency. Osteoporosis is a significant public health concern, sometimes remaining untreated owing to its asymptomatic characteristics, and early identification is essential to avert fractures. The research assesses six machine learning classifiers: Random Forest, Logistic Regression, XGBoost, AdaBoost, LightGBM, and Gradient Boosting and utilizes a dataset based on clinical, demographic, and lifestyle variables. The models are refined using GridSearchCV to calibrate hyperparameters, with the objective of enhancing predictive efficacy. XGBoost had the greatest accuracy (91%) among the evaluated models, surpassing others in precision (0.92), recall (0.91), and F1-score (0.90). The research further integrates XAI approaches, such as SHAP, LIME, and Permutation Feature Importance, to elucidate the decision-making process of the optimal model. The study indicates that age is the primary determinant in forecasting osteoporosis risk, followed by hormonal alterations and familial history. These results corroborate clinical knowledge and affirm the models' therapeutic significance. The research underscores the significance of explainability in machine learning models for healthcare applications, guaranteeing that physicians can rely on the system's predictions. The report ultimately proposes directions for further research, such as validation across varied populations and the integration of supplementary biomarkers for enhanced predictive accuracy.


Survey of AI-Powered Approaches for Osteoporosis Diagnosis in Medical Imaging

Rahman, Abdul, Lee, Bumshik

arXiv.org Artificial Intelligence

Osteoporosis silently erodes skeletal integrity worldwide; however, early detection through imaging can prevent most fragility fractures. Artificial intelligence (AI) methods now mine routine Dual-energy X-ray Absorptiometry (DXA), X-ray, Computed Tomography (CT), and Magnetic Resonance Imaging (MRI) scans for subtle, clinically actionable markers, but the literature is fragmented. This survey unifies the field through a tri-axial framework that couples imaging modalities with clinical tasks and AI methodologies (classical machine learning, convolutional neural networks (CNNs), transformers, self-supervised learning, and explainable AI). Following a concise clinical and technical primer, we detail our Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA)-guided search strategy, introduce the taxonomy via a roadmap figure, and synthesize cross-study insights on data scarcity, external validation, and interpretability. By identifying emerging trends, open challenges, and actionable research directions, this review provides AI scientists, medical imaging researchers, and musculoskeletal clinicians with a clear compass to accelerate rigorous, patient-centered innovation in osteoporosis care. The project page of this survey can also be found on Github.


DEXA Scan Deep Dive, With Insights From the Experts (2025)

WIRED

Do You Need a DEXA Scan? DEXA scans measure your bone density, lean muscle, and adipose visceral tissue. But unless you're an athlete or approaching menopause, you probably don't need a detailed full-body scan. All products featured on WIRED are independently selected by our editors. However, we may receive compensation from retailers and/or from purchases of products through these links.


Discovery of Disease Relationships via Transcriptomic Signature Analysis Powered by Agentic AI

Chen, Ke, Wang, Haohan

arXiv.org Artificial Intelligence

Modern disease classification often overlooks molecular commonalities hidden beneath divergent clinical presentations. This study introduces a transcriptomics-driven framework for discovering disease relationships by analyzing over 1300 disease-condition pairs using GenoMAS, a fully automated agentic AI system. Beyond identifying robust gene-level overlaps, we develop a novel pathway-based similarity framework that integrates multi-database enrichment analysis to quantify functional convergence across diseases. The resulting disease similarity network reveals both known comorbidities and previously undocumented cross-category links. By examining shared biological pathways, we explore potential molecular mechanisms underlying these connections-offering functional hypotheses that go beyond symptom-based taxonomies. We further show how background conditions such as obesity and hypertension modulate transcriptomic similarity, and identify therapeutic repurposing opportunities for rare diseases like autism spectrum disorder based on their molecular proximity to better-characterized conditions. In addition, this work demonstrates how biologically grounded agentic AI can scale transcriptomic analysis while enabling mechanistic interpretation across complex disease landscapes. All results are publicly accessible at github.com/KeeeeChen/Pathway_Similarity_Network.


Osteoporosis Prediction from Hand X-ray Images Using Segmentation-for-Classification and Self-Supervised Learning

Hwang, Ung, Lee, Chang-Hun, Yoon, Kijung

arXiv.org Artificial Intelligence

Osteoporosis is a widespread and chronic metabolic bone disease that often remains undiagnosed and untreated due to limited access to bone mineral density (BMD) tests like Dual-energy X-ray absorptiometry (DXA). In response to this challenge, current advancements are pivoting towards detecting osteoporosis by examining alternative indicators from peripheral bone areas, with the goal of increasing screening rates without added expenses or time. In this paper, we present a method to predict osteoporosis using hand and wrist X-ray images, which are both widely accessible and affordable, though their link to DXA-based data is not thoroughly explored. We employ a sophisticated image segmentation model that utilizes a mixture of probabilistic U-Net decoders, specifically designed to capture predictive uncertainty in the segmentation of the ulna, radius, and metacarpal bones. This model is formulated as an optimal transport (OT) problem, enabling it to handle the inherent uncertainties in image segmentation more effectively. Further, we adopt a self-supervised learning (SSL) approach to extract meaningful representations without the need for explicit labels, and move on to classify osteoporosis in a supervised manner. Our method is evaluated on a dataset with 192 individuals, cross-referencing their verified osteoporosis conditions against the standard DXA test. With a notable classification score, this integration of uncertainty-aware segmentation and self-supervised learning represents a pioneering effort in leveraging vision-based techniques for the early detection of osteoporosis from peripheral skeletal sites.


Enhancing Osteoporosis Detection: An Explainable Multi-Modal Learning Framework with Feature Fusion and Variable Clustering

Chagahi, Mehdi Hosseini, Dashtaki, Saeed Mohammadi, Delfan, Niloufar, Mohammadi, Nadia, Samari, Alireza, Moshiri, Behzad, Piran, Md. Jalil, Faust, Oliver

arXiv.org Artificial Intelligence

Osteoporosis is a common condition that increases fracture risk, especially in older adults. Early diagnosis is vital for preventing fractures, reducing treatment costs, and preserving mobility. However, healthcare providers face challenges like limited labeled data and difficulties in processing medical images. This study presents a novel multi-modal learning framework that integrates clinical and imaging data to improve diagnostic accuracy and model interpretability. The model utilizes three pre-trained networks-VGG19, InceptionV3, and ResNet50-to extract deep features from X-ray images. These features are transformed using PCA to reduce dimensionality and focus on the most relevant components. A clustering-based selection process identifies the most representative components, which are then combined with preprocessed clinical data and processed through a fully connected network (FCN) for final classification. A feature importance plot highlights key variables, showing that Medical History, BMI, and Height were the main contributors, emphasizing the significance of patient-specific data. While imaging features were valuable, they had lower importance, indicating that clinical data are crucial for accurate predictions. This framework promotes precise and interpretable predictions, enhancing transparency and building trust in AI-driven diagnoses for clinical integration.


Towards the Feasibility Analysis and Additive Manufacturing of a Novel Flexible Pedicle Screw for Spinal Fixation Procedures

Kulkarni, Yash, Sharma, Susheela, Allison, Jared, Amadio, Jordan, Tilton, Maryam, Alambeigi, Farshid

arXiv.org Artificial Intelligence

In this paper, we explore the feasibility of developing a novel flexible pedicle screw (FPS) for enhanced spinal fixation of osteoporotic vertebrae. Vital for spinal fracture treatment, pedicle screws have been around since the early 20th century and have undergone multiple iterations to enhance internal spinal fixation. However, spinal fixation treatments tend to be problematic for osteoporotic patients due to multiple inopportune variables. The inherent rigid nature of the pedicle screw, along with the forced linear trajectory of the screw path, frequently leads to the placement of these screws in highly osteoporotic regions of the bone. This results in eventual screw slippage and causing neurological and respiratory problems for the patient. To address this problem, we focus on developing a novel FPS that is structurally capable of safely bending to fit curved trajectories drilled by a steerable drilling robot and bypass highly osteoporotic regions of the vertebral body. Afterwards, we simulate its morphability capabilities using finite element analysis (FEA). We then additively manufacture the FPS using stainless steel (SS) 316L alloy through direct metal laser sintering (DMLS). Finally, the fabricated FPS is experimentally evaluated for its bending performance and compared with the FEA results for verification. Results demonstrate the feasibility of additive manufacturing of FPS using DMLS approach and agreement of the developed FEA with the experiments.


Risk Factor Identification In Osteoporosis Using Unsupervised Machine Learning Techniques

Calitis, Mikayla

arXiv.org Artificial Intelligence

In this study, the reliability of identified risk factors associated with osteoporosis is investigated using a new clustering-based method on electronic medical records. This study proposes utilizing a new CLustering Iterations Framework (CLIF) that includes an iterative clustering framework that can adapt any of the following three components: clustering, feature selection, and principal feature identification. The study proposes using Wasserstein distance to identify principal features, borrowing concepts from the optimal transport theory. The study also suggests using a combination of ANOVA and ablation tests to select influential features from a data set. Some risk factors presented in existing works are endorsed by our identified significant clusters, while the reliability of some other risk factors is weakened.


The changing rule of human bone density with aging based on a novel definition and mensuration of bone density with computed tomography

Tao, Linmi, Liu, Ruiyang, Wang, Yuanbiao, Zhou, Yuezhi, Huo, Li, Hu, Guilan, Zhang, Xiangsong, He, Zuo-Xiang

arXiv.org Artificial Intelligence

Osteoporosis and fragility fractures have emerged as major public health concerns in an aging population. However, measuring age-related changes in bone density using dual-energy X-ray absorptiometry has limited personalized risk assessment due to susceptibility to interference from various factors. In this study, we propose an innovative statistical model of bone pixel distribution in fine-segmented computed tomography (CT) images, along with a novel approach to measuring bone density based on CT values of bone pixels. Our findings indicate that bone density exhibits a linear decline with age during adulthood between the ages of 39 and 80, with the rate of decline being approximately 1.6 times faster in women than in men. This contradicts the widely accepted notion that bone density starts declining in women at menopause and in men at around 50 years of age. The linearity of age-related changes provides further insights into the dynamics of the aging human body. Consequently, our findings suggest that the definition of osteoporosis by the World Health Organization should be revised to the standard deviation of age-based bone density. Furthermore, these results open up new avenues for research in bone health care and clinical investigation of osteoporosis.