Accurate reconstruction of cortical surfaces from brain magnetic resonance images (MRIs) remains a challenging task due to the notorious partial volume effect in brain MRIs and the cerebral cortex's thin and highly folded patterns. Although many promising deep learning-based cortical surface reconstruction methods have been developed, they typically fail to model the interdependence between inner (white matter) and outer (pial) cortical surfaces, which can help generate cortical surfaces with spherical topology. To robustly reconstruct the cortical surfaces with topological correctness, we develop a new deep learning framework to jointly reconstruct the inner, outer, and their in-between (midthickness) surfaces and estimate cortical thickness directly from 3D MRIs. Our method first estimates the midthickness surface and then learns three diffeomorphic flows jointly to optimize the midthickness surface and deform it inward and outward to the inner and outer cortical surfaces respectively, regularized by topological correctness. Our method also outputs a cortex thickness value for each surface vertex, estimated from its diffeomorphic deformation trajectory. Our method has been evaluated on two large-scale neuroimaging datasets, including ADNI and OASIS, achieving state-of-the-art cortical surface reconstruction performance in terms of accuracy, surface regularity, and computation efficiency.

Foundation segmentation models such as SAM and SAM-2 perform well on natural images but struggle with brain MRIs where structures like the caudate and thalamus lack sharp boundaries and have low contrast. Rather than fine tune these models (for example MedSAM), we propose a compositional alternative where the foundation model output is treated as an additional input channel and passed alongside the MRI to highlight regions of interest. We generate SAM-2 prompts by using a lightweight 3D U-Net that was previously trained on MRI segmentation. The U-Net may have been trained on a different dataset, so its guesses are often imprecise but usually in the correct region. The edges of the resulting foundation model guesses are smoothed to improve alignment with the MRI. We also test prompt free segmentation using DINO attention maps in the same framework. This has-a architecture avoids modifying foundation weights and adapts to domain shift without retraining the foundation model. It reaches about 96 percent volume accuracy on basal ganglia segmentation, which is sufficient for our study of longitudinal volume change. The approach is fast, label efficient, and robust to out of distribution scans. We apply it to study inflammation linked changes in sudden onset pediatric OCD.

-- Batten disease (neuronal ceroid lipofuscinosis) is a rare pediatric neurodegenerative disorder whose early MRI signs are subtle and often missed. We propose TinyViT-Batten, a few-shot Vision Transformer (ViT) framework to detect early Batten disease from pediatric brain MRI with limited training cases. Our model achieves high accuracy ( 91%) and area under ROC 0.95 on a multi-site dataset of 79 genetically confirmed Batten-disease MRIs (27 CLN3 from the Hochstein natural-history study, 32 CLN2 from an international longitudinal cohort, 12 early-manifestation CLN2 cases reported by Çokal et al., and 8 public Radiopaedia scans) together with 90 age-matched controls, outperforming a 3D-ResNet and Swin-Tiny baseline. We further integrate Gradient-weighted Class Activation Mapping (Grad-CAM) to highlight disease-relevant brain regions, enabling explainable predictions. The model ' s small size and strong performance (sensitivity >90%, specificity 90%), demonstrates a practical AI solution for early Batten disease detection. Batten disease, or neuronal ceroid lipofuscinosis (NCL), comprises a group of rare lysosomal storage disorders that cause progressive neurodegeneration in children [1]. Early signs on brain MRI can include subtle cerebral and cerebellar atrophy and faint white-matter signal changes. However, these findings are often non-specific and easily overlooked [1]. Early detection of Batten disease is critical--recently an enzyme replacement therapy was approved for CLN2 (late-infantile NCL) [3] and gene therapies for other subtypes are in trials.

Generating realistic MRIs to accurately predict future changes in the structure of brain is an invaluable tool for clinicians in assessing clinical outcomes and analysing the disease progression at the patient level. However, current existing methods present some limitations: (i) some approaches fail to explicitly capture the relationship between structural changes and time intervals, especially when trained on age-imbalanced datasets; (ii) others rely only on scan interpolation, which lack clinical utility, as they generate intermediate images between timepoints rather than future pathological progression; and (iii) most approaches rely on 2D slice-based architectures, thereby disregarding full 3D anatomical context, which is essential for accurate longitudinal predictions. We propose a 3D Temporally-Aware Diffusion Model (TADM-3D), which accurately predicts brain progression on MRI volumes. To better model the relationship between time interval and brain changes, TADM-3D uses a pre-trained Brain-Age Estimator (BAE) that guides the diffusion model in the generation of MRIs that accurately reflect the expected age difference between baseline and generated follow-up scans. Additionally, to further improve the temporal awareness of TADM-3D, we propose the Back-In-Time Regularisation (BITR), by training TADM-3D to predict bidirectionally from the baseline to follow-up (forward), as well as from the follow-up to baseline (backward). Although predicting past scans has limited clinical applications, this regularisation helps the model generate temporally more accurate scans. We train and evaluate TADM-3D on the OASIS-3 dataset, and we validate the generalisation performance on an external test set from the NACC dataset. The code will be available upon acceptance.

Accurate morphometric assessment of cartilage-such as thickness/volume-via MRI is essential for monitoring knee osteoarthritis. Segmenting cartilage remains challenging and dependent on extensive expert-annotated datasets, which are heavily subjected to inter-reader variability. Recent advancements in Visual Foundational Models (VFM), especially memory-based approaches, offer opportunities for improving generalizability and robustness. This study introduces a deep learning (DL) method for cartilage and meniscus segmentation from 3D MRIs using interactive, memory-based VFMs. To improve spatial awareness and convergence, we incorporated a Hybrid Shuffling Strategy (HSS) during training and applied a segmentation mask propagation technique to enhance annotation efficiency. We trained four AI models-a CNN-based 3D-VNet, two automatic transformer-based models (SaMRI2D and SaMRI3D), and a transformer-based promptable memory-based VFM (SAMRI-2)-on 3D knee MRIs from 270 patients using public and internal datasets and evaluated on 57 external cases, including multi-radiologist annotations and different data acquisitions. Model performance was assessed against reference standards using Dice Score (DSC) and Intersection over Union (IoU), with additional morphometric evaluations to further quantify segmentation accuracy. SAMRI-2 model, trained with HSS, outperformed all other models, achieving an average DSC improvement of 5 points, with a peak improvement of 12 points for tibial cartilage. It also demonstrated the lowest cartilage thickness errors, reducing discrepancies by up to threefold. Notably, SAMRI-2 maintained high performance with as few as three user clicks per volume, reducing annotation effort while ensuring anatomical precision. This memory-based VFM with spatial awareness offers a novel approach for reliable AI-assisted knee MRI segmentation, advancing DL in musculoskeletal imaging.

Alzheimer's disease is an untreatable, progressive brain disorder that slowly robs people of their memory, thinking abilities, and ultimately their capacity to complete even the most basic tasks. Among older adults, it is the most frequent cause of dementia. Although there is presently no treatment for Alzheimer's disease, scientific trials are ongoing to discover drugs to combat the condition. Treatments to slow the signs of dementia are also available. Many researchers throughout the world became interested in developing computer-aided diagnosis systems to aid in the early identification of this deadly disease and assure an accurate diagnosis. In particular, image based approaches have been coupled with machine learning techniques to address the challenges of Alzheimer's disease detection. This study proposes a computer aided diagnosis system to detect Alzheimer's disease from biomarkers captured using neuroimaging techniques. The proposed approach relies on deep learning techniques to extract the relevant visual features from the image collection to accurately predict the Alzheimer's class value. In the experiments, standard datasets and pre-trained deep learning models were investigated. Moreover, standard performance measures were used to assess the models' performances. The obtained results proved that VGG16-based models outperform the state of the art performance.

Developing new methods for the automated analysis of clinical fetal and neonatal MRI data is limited by the scarcity of annotated pathological datasets and privacy concerns that often restrict data sharing, hindering the effectiveness of deep learning models. We address this in two ways. First, we introduce Fetal&Neonatal-DDPM, a novel diffusion model framework designed to generate high-quality synthetic pathological fetal and neonatal MRIs from semantic label images. Second, we enhance training data by modifying healthy label images through morphological alterations to simulate conditions such as ventriculomegaly, cerebellar and pontocerebellar hypoplasia, and microcephaly. By leveraging Fetal&Neonatal-DDPM, we synthesize realistic pathological MRIs from these modified pathological label images. Radiologists rated the synthetic MRIs as significantly (p < 0.05) superior in quality and diagnostic value compared to real MRIs, demonstrating features such as blood vessels and choroid plexus, and improved alignment with label annotations. Synthetic pathological data enhanced state-of-the-art nnUNet segmentation performance, particularly for severe ventriculomegaly cases, with the greatest improvements achieved in ventricle segmentation (Dice scores: 0.9253 vs. 0.7317). This study underscores the potential of generative AI as transformative tool for data augmentation, offering improved segmentation performance in pathological cases. This development represents a significant step towards improving analysis and segmentation accuracy in prenatal imaging, and also offers new ways for data anonymization through the generation of pathologic image data.

Defacing is often applied to head magnetic resonance image (MRI) datasets prior to public release to address privacy concerns. The alteration of facial and nearby voxels has provoked discussions about the true capability of these techniques to ensure privacy as well as their impact on downstream tasks. With advancements in deep generative models, the extent to which defacing can protect privacy is uncertain. Additionally, while the altered voxels are known to contain valuable anatomical information, their potential to support research beyond the anatomical regions directly affected by defacing remains uncertain. To evaluate these considerations, we develop a refacing pipeline that recovers faces in defaced head MRIs using cascaded diffusion probabilistic models (DPMs). The DPMs are trained on images from 180 subjects and tested on images from 484 unseen subjects, 469 of whom are from a different dataset. To assess whether the altered voxels in defacing contain universally useful information, we also predict computed tomography (CT)-derived skeletal muscle radiodensity from facial voxels in both defaced and original MRIs. The results show that DPMs can generate high-fidelity faces that resemble the original faces from defaced images, with surface distances to the original faces significantly smaller than those of a population average face (p < 0.05). This performance also generalizes well to previously unseen datasets. For skeletal muscle radiodensity predictions, using defaced images results in significantly weaker Spearman's rank correlation coefficients compared to using original images (p < 10-4). For shin muscle, the correlation is statistically significant (p < 0.05) when using original images but not statistically significant (p > 0.05) when any defacing method is applied, suggesting that defacing might not only fail to protect privacy but also eliminate valuable information.

Accurate reconstruction of cortical surfaces from brain magnetic resonance images (MRIs) remains a challenging task due to the notorious partial volume effect in brain MRIs and the cerebral cortex's thin and highly folded patterns. Although many promising deep learning-based cortical surface reconstruction methods have been developed, they typically fail to model the interdependence between inner (white matter) and outer (pial) cortical surfaces, which can help generate cortical surfaces with spherical topology. To robustly reconstruct the cortical surfaces with topological correctness, we develop a new deep learning framework to jointly reconstruct the inner, outer, and their in-between (midthickness) surfaces and estimate cortical thickness directly from 3D MRIs. Our method first estimates the midthickness surface and then learns three diffeomorphic flows jointly to optimize the midthickness surface and deform it inward and outward to the inner and outer cortical surfaces respectively, regularized by topological correctness. Our method also outputs a cortex thickness value for each surface vertex, estimated from its diffeomorphic deformation trajectory.

The number of samples in structural brain MRI studies is often too small to properly train deep learning models. Generative models show promise in addressing this issue by effectively learning the data distribution and generating high-fidelity MRI. However, they struggle to produce diverse, high-quality data outside the distribution defined by the training data. One way to address the issue is using causal models developed for 3D volume counterfactuals. However, accurately modeling causality in high-dimensional spaces is a challenge so that these models generally generate 3D brain MRIS of lower quality. To address these challenges, we propose a two-stage method that constructs a Structural Causal Model (SCM) within the latent space. In the first stage, we employ a VQ-VAE to learn a compact embedding of the MRI volume. Subsequently, we integrate our causal model into this latent space and execute a three-step counterfactual procedure using a closed-form Generalized Linear Model (GLM). Our experiments conducted on real-world high-resolution MRI data (1mm) demonstrate that our method can generate high-quality 3D MRI counterfactuals.