arXiv:2312. 15320v3 Announce Type: replace-cross Abstract: Individuals with suspected rare genetic disorders often undergo multiple clinical evaluations, imaging studies, laboratory tests, and genetic tests over a prolonged period of time, a process commonly described as the diagnostic odyssey.
AI-assisted facial phenotyping supports rare genetic disorder prioritization by retrieving visually similar diagnosed cases from facial image reference databases such as the GestaltMatcher Database (GMDB). Existing GestaltMatcher-based retrieval frameworks compare each test image with individual gallery images in a facial phenotype embedding space.
arXiv:2608. 08926v1 Announce Type: new Abstract: Neuroimaging and genetic testing are two important clinical references for nervous system diseases, offering complementary diagnostic information.
arXiv:2609.38560v1 Announce Type: new Abstract: Mycosis fungoides (MF) is a rare form of cutaneous T-cell lymphoma that is often misdiagnosed in early stages due to its visual similarity to benign in...
NeoRed is a multimodal large language model specifically designed for diagnosing neonatal respiratory diseases. It addresses two main limitations of existing models—domain gaps from adult data and inadequate integration of clinical context—by leveraging two real-world neonatal datasets (NeoCXR and NeoCXR-EV). The model incorporates a Knowledge-Logic-Alignment framework that injects diagnostic priors, aligns report semantics with diagnostic logic, and aligns visual features with imaging conclusions, achieving superior performance on neonatal benchmarks while maintaining adult benchmark performance.
The paper introduces Neuro‑JEPA, a sparse multimodal foundation model that learns unified representations of brain MRI across T1w, T2w, and FLAIR sequences using a latent predictive objective and a Mixture‑of‑Experts architecture. It was pretrained on over 1.5 million scans from 428,647 studies and systematically evaluates architectural, masking, objective, and sparsity choices for robust multimodal representation learning. Across 47 tasks from three health systems and 12 public datasets, Neuro‑JEPA consistently outperforms a simple CNN baseline, demonstrating its effectiveness for both clinical and research applications.
The paper introduces CoPath, a lightweight framework for diagnosing peripheral neuroblastic tumors (pNTs) from whole-slide images. CoPath combines CoHisNet, a multi‑scale feature‑fusion network that replaces traditional MLPs with Kolmogorov‑Arnold Network layers for efficient nonlinear modeling, and PathVote, which aggregates patch‑level predictions using pathology‑informed priors. Experiments on a private pNT cohort and the public BreakHis dataset show that CoPath matches or surpasses existing classifiers while reducing computational complexity.
arXiv:2606. 20037v1 Announce Type: new Abstract: Alzheimer's disease (AD) is an irreversible neurodegenerative disorder and a leading cause of death worldwide.
UniAR is a unified framework that improves autism spectrum disorder (ASD) recognition by using multi-granularity prompt learning and a large multimodal model to generate diagnostic descriptions at word, phrase, and sentence levels. It aligns these semantic representations with visual evidence through a Mixture-of-Experts-based Multi-Scale Alignment Module, enabling robust ASD detection across heterogeneous data types. Experiments on four brain MRI and facial expression benchmarks show that UniAR outperforms state‑of‑the‑art methods, achieving 75.9% accuracy on MRI and 91.6% on facial benchmarks, with gains of 1.5 and 1.2 percentage points respectively.
arXiv:2609.00866v1 Announce Type: cross Abstract: The rapid advancement of vision-language models (VLMs) has accelerated progress in computational pathology; however, whole-slide image (WSI)-based pa...
The study presents an explainable multimodal deep‑learning framework that combines a 3D CNN for T1‑weighted MRI with a feedforward network for harmonized clinical and demographic data to diagnose Alzheimer’s disease. Using 6,479 ADNI records and 1,703 OASIS‑3 records, the authors compare various model configurations on three‑way and pairwise diagnostic tasks, finding that performance and explanations vary by task, modality, fusion strategy, and cohort. SHAP and Integrated Gradients consistently highlight the MMSE score as the most influential tabular feature, while CAM‑based explanations differ across model setups and cohorts, indicating that explainability is not a stable property under cohort shift.
arXiv:2607. 05585v1 Announce Type: cross Abstract: FaceMesh2HPO is a framework for classifying facial phenotypic descriptors aligned with the Human Phenotype Ontology (HPO) to support clinical diagnosis.
The rapid advancement of vision-language models (VLMs) has accelerated progress in computational pathology; however, whole-slide image (WSI)-based pathology report generation remains limited by the sc...