Nishad Kulkarni

Nishad Kulkarni, Alexandra K. Martinson, Nicholas L. Rider et al.

Rare diseases such as inborn errors of immunity (IEI) require early diagnosis to prevent end organ damage and improve quality of life. Hurdles in accessing and curating large scale electronic health record (EHR) data limit routine data driven analyses to remain on the forefront of IEI and other rare disease trends. Development of machine learning (ML) algorithms in IEI for pattern recognition as well as published methodology examining how to systematically process and integrate complex medical data is limited. Our proposed pipeline, including data curation and ML clustering algorithms, is designed to recognize novel rare disease patterns and extract IEI- associated features from a national data registry. Our methodology for EHR data formatting and processing presents the pipeline that transforms raw immunologic lab data into vectors. This is further combined with hyperparameter tuning for diseases pattern recognition via clustering. This study refines IEI feature awareness, develops data tool kits for rare disease populations analysis, and expands on transforming complex medical records in data structures interpretable by unsupervised ML.

Daniel Capellán-Martín, Abhijeet Parida, Zhifan Jiang et al.

Robust and generalizable segmentation of brain tumors on multi-parametric magnetic resonance imaging (MRI) remains difficult because tumor types differ widely. The BraTS 2025 Lighthouse Challenge benchmarks segmentation methods on diverse high-quality datasets of adult and pediatric tumors: multi-consortium international pediatric brain tumor segmentation (PED), preoperative meningioma tumor segmentation (MEN), meningioma radiotherapy segmentation (MEN-RT), and segmentation of pre- and post-treatment brain metastases (MET). We present a flexible, modular, and adaptable pipeline that improves segmentation performance by selecting and combining state-of-the-art models and applying tumor- and lesion-specific processing before and after training. Radiomic features extracted from MRI help detect tumor subtype, ensuring a more balanced training. Custom lesion-level performance metrics determine the influence of each model in the ensemble and optimize post-processing that further refines the predictions, enabling the workflow to tailor every step to each case. On the BraTS testing sets, our pipeline achieved performance comparable to top-ranked algorithms across multiple challenges. These findings confirm that custom lesion-aware processing and model selection yield robust segmentations yet without locking the method to a specific network architecture. Our method has the potential for quantitative tumor measurement in clinical practice, supporting diagnosis and prognosis.

Nishad Kulkarni, Krithika Iyer, Austin Tapp et al.

Magnetic Resonance Imaging (MRI) is the primary imaging modality used in the diagnosis, assessment, and treatment planning for brain pathologies. However, most automated MRI analysis tools, such as segmentation and registration pipelines, are optimized for healthy anatomies and often fail when confronted with large lesions such as tumors. To overcome this, image inpainting techniques aim to locally synthesize healthy brain tissues in tumor regions, enabling the reliable application of general-purpose tools. In this work, we systematically evaluate state-of-the-art inpainting models and observe a saturation in their standalone performance. In response, we introduce a methodology combining model ensembling with efficient post-processing strategies such as median filtering, histogram matching, and pixel averaging. Further anatomical refinement is achieved via a lightweight U-Net enhancement stage. Comprehensive evaluation demonstrates that our proposed pipeline improves the anatomical plausibility and visual fidelity of inpainted regions, yielding higher accuracy and more robust outcomes than individual baseline models. By combining established models with targeted post-processing, we achieve improved and more accessible inpainting outcomes, supporting broader clinical deployment and sustainable, resource-conscious research. Our 2025 BraTS inpainting docker is available at https://hub.docker.com/layers/aparida12/brats2025/inpt.