Anatomy-Aware 3D Mesh Refinement of Pericardium Segmentations on Computed Tomography

Accurate delineation of the pericardium in a cardiac CT scan is essential for quantifying epicardial adipose tissue, yet it remains one of the most challenging structures to segment due to its poor contrast boundaries. Instead of solely relying on image gradients, our framework leverages the anatomical context of surrounding anatomical structures to guide the segmentation. This work introduces a novel 3D iterative mesh refinement framework that balances anatomical and geometric forces derived from inherent anatomical rules to refine an initial, possibly ambiguous, segmentation into a high-precision, anatomically plausible result. Designed as a model-agnostic post-processing step, our method uses a 3D vector field to iteratively push the vertices to the correct anatomical locations. Evaluating the refinement on both a high-resolution in-house dataset and a coarse, sparsely annotated open-source dataset, our method consistently improves all volumetric, surface, and anatomical metrics. The framework demonstrates greater improvement when applied to weaker initial segmentations, highlighting its potential for improving segmentations for out-of-domain models and in limited-training-data scenarios. The method is formulated as a gradient-based, GPU-accelerated framework that can be easily extended to other anatomical use cases.

Hierarchical Classification via Cascading Feature Elimination: Application to Human Phenotype Ontology-Aligned Facial Phenotyping (FaceMesh2HPO)

FaceMesh2HPO is a framework for classifying facial phenotypic descriptors aligned with the Human Phenotype Ontology (HPO) to support clinical diagnosis. Using annotations from 124 clinicians across 10 disorders (107 HPO terms) combined with non-syndromic controls, we generated 3D facial meshes (478 landmarks) from 2D images and trained a hierarchical PointNet-based pipeline with cascading classification and feature elimination. The best models, incorporating 3D meshes, facial outline, and demographic metadata, achieved AUROCs between ~0.55 and ~0.89, with higher performance at parent nodes than leaf terms. External validation showed variable generalizability across disorders. Results demonstrate that hierarchical modeling of 3D facial geometry enables interpretable, ontology-linked phenotype classification, though performance on rare leaf terms remains limited. Improved data diversity and feature selection strategies are needed to enhance robustness and clinical utility.