Friedreich ataxia (FRDA) is a rare, inherited progressive movement disorder for which there is currently no cure. The field urgently requires more sensitive, objective, and clinically relevant biomarkers to enhance the evaluation of treatment efficacy in clinical trials and to speed up the process of drug discovery. This study pioneers the development of clinically relevant, multidomain, fully objective composite biomarkers of disease severity and progression, using multimodal neuroimaging and background data (i.e., demographic, disease history, genetics). Data from 31 individuals with FRDA and 31 controls from a longitudinal multimodal natural history study IMAGE-FRDA, were included. Using an elasticnet predictive machine learning (ML) regression model, we derived a weighted combination of background, structural MRI, diffusion MRI, and quantitative susceptibility imaging (QSM) measures that predicted Friedreich ataxia rating scale (FARS) with high accuracy (R² = 0.79, root mean square error (RMSE) = 13.19). This composite also exhibited strong sensitivity to disease progression over two years (Cohen's d = 1.12), outperforming the sensitivity of the FARS score alone (d = 0.88). The approach was validated using the Scale for the assessment and rating of ataxia (SARA), demonstrating the potential and robustness of ML-derived composites to surpass individual biomarkers and act as complementary or surrogate markers of disease severity and progression. However, further validation, refinement, and the integration of additional data modalities will open up new opportunities for translating these biomarkers into clinical practice and clinical trials for FRDA, as well as other rare neurodegenerative diseases.

The precise and timely diagnosis of brain tumors is essential for accelerating patient recovery and preserving lives. Brain tumors exhibit a variety of sizes, shapes, and visual characteristics, requiring individualized treatment strategies for each patient. Radiologists require considerable proficiency to manually detect brain malignancies. However, tumor recognition remains inefficient, imprecise, and labor-intensive in manual procedures, underscoring the need for automated methods. This study introduces an effective approach for identifying brain lesions in magnetic resonance imaging (MRI) images, minimizing dependence on manual intervention. The proposed method improves image clarity by combining guided filtering techniques with anisotropic Gaussian side windows (AGSW). A morphological analysis is conducted prior to segmentation to exclude non-tumor regions from the enhanced MRI images. Deep neural networks segment the images, extracting high-quality regions of interest (ROIs) and multiscale features. Identifying salient elements is essential and is accomplished through an attention module that isolates distinctive features while eliminating irrelevant information. An ensemble model is employed to classify brain tumors into different categories. The proposed technique achieves an overall accuracy of 99.94% and 99.67% on the publicly available brain tumor datasets BraTS2020 and Figshare, respectively. Furthermore, it surpasses existing technologies in terms of automation and robustness, thereby enhancing the entire diagnostic process.

We propose a novel framework for integrating fragmented multi-modal data in Alzheimer's disease (AD) research using large language models (LLMs) and knowledge graphs. While traditional multimodal analysis requires matched patient IDs across datasets, our approach demonstrates population-level integration of MRI, gene expression, biomarkers, EEG, and clinical indicators from independent cohorts. Statistical analysis identified significant features in each modality, which were connected as nodes in a knowledge graph. LLMs then analyzed the graph to extract potential correlations and generate hypotheses in natural language. This approach revealed several novel relationships, including a potential pathway linking metabolic risk factors to tau protein abnormalities via neuroinflammation (r>0.6, p<0.001), and unexpected correlations between frontal EEG channels and specific gene expression profiles (r=0.42-0.58, p<0.01). Cross-validation with independent datasets confirmed the robustness of major findings, with consistent effect sizes across cohorts (variance <15%). The reproducibility of these findings was further supported by expert review (Cohen's k=0.82) and computational validation. Our framework enables cross modal integration at a conceptual level without requiring patient ID matching, offering new possibilities for understanding AD pathology through fragmented data reuse and generating testable hypotheses for future research.

Dynamic FDG PET imaging study of n = 52 rats including 26 control Wistar-Kyoto (WKY) rats and 26 experimental spontaneously hypertensive rats (SHR) were performed using a Siemens microPET and Albira trimodal scanner longitudinally at 1, 2, 3, 5, 9, 12 and 18 months of age. A 15-parameter dual output model correcting for spill over contamination and partial volume effects with peak fitting cost functions was developed for simultaneous estimation of model corrected blood input function (MCIF) and kinetic rate constants for dynamic FDG PET images of rat heart in vivo. Major drawbacks of this model are its dependence on manual annotations for the Image Derived Input Function (IDIF) and manual determination of crucial model parameters to compute MCIF. To overcome these limitations, we performed semi-automated segmentation and then formulated a Long-Short-Term Memory (LSTM) cell network to train and predict MCIF in test data using a concatenation of IDIFs and myocardial inputs and compared them with reference-modeled MCIF. Thresholding along 2D plane slices with two thresholds, with T1 representing high-intensity myocardium, and T2 representing lower-intensity rings, was used to segment the area of the LV blood pool. The resultant IDIF and myocardial TACs were used to compute the corresponding reference (model) MCIF for all data sets. The segmented IDIF and the myocardium formed the input for the LSTM network. A k-fold cross validation structure with a 33:8:11 split and 5 folds was utilized to create the model and evaluate the performance of the LSTM network for all datasets. To overcome the sparseness of data as time steps increase, midpoint interpolation was utilized to increase the density of datapoints beyond time = 10 minutes. The model utilizing midpoint interpolation was able to achieve a 56.4% improvement over previous Mean Squared Error (MSE).

Mesh reconstruction is a cornerstone process across various applications, including in-silico trials, digital twins, surgical planning, and navigation. Recent advancements in deep learning have notably enhanced mesh reconstruction speeds. Yet, traditional methods predominantly rely on deforming a standardised template mesh for individual subjects, which overlooks the unique anatomical variations between them, and may compromise the fidelity of the reconstructions. In this paper, we propose an adaptive-template-based mesh reconstruction network (ATMRN), which generates adaptive templates from the given images for the subsequent deformation, moving beyond the constraints of a singular, fixed template. Our approach, validated on cortical magnetic resonance (MR) images from the OASIS dataset, sets a new benchmark in voxel-to-cortex mesh reconstruction, achieving an average symmetric surface distance of 0.267mm across four cortical structures. Our proposed method is generic and can be easily transferred to other image modalities and anatomical structures.

Computed Tomography serves as an indispensable tool in clinical workflows, providing non-invasive visualization of internal anatomical structures. Existing CT reconstruction works are limited to small-capacity model architecture, inflexible volume representation, and small-scale training data. In this paper, we present X-GRM (X-ray Gaussian Reconstruction Model), a large feedforward model for reconstructing 3D CT from sparse-view 2D X-ray projections. X-GRM employs a scalable transformer-based architecture to encode an arbitrary number of sparse X-ray inputs, where tokens from different views are integrated efficiently. Then, tokens are decoded into a new volume representation, named Voxel-based Gaussian Splatting (VoxGS), which enables efficient CT volume extraction and differentiable X-ray rendering. To support the training of X-GRM, we collect ReconX-15K, a large-scale CT reconstruction dataset containing around 15,000 CT/X-ray pairs across diverse organs, including the chest, abdomen, pelvis, and tooth etc. This combination of a high-capacity model, flexible volume representation, and large-scale training data empowers our model to produce high-quality reconstructions from various testing inputs, including in-domain and out-domain X-ray projections. Project Page: https://github.com/CUHK-AIM-Group/X-GRM.

Medical image segmentation plays an important role in various clinical applications, but existing models often struggle with the computational inefficiencies and challenges posed by complex medical data. State Space Sequence Models (SSMs) have demonstrated promise in modeling long-range dependencies with linear computational complexity, yet their application in medical image segmentation remains hindered by incompatibilities with image tokens and autoregressive assumptions. Moreover, it is difficult to achieve a balance in capturing both local fine-grained information and global semantic dependencies. To address these challenges, we introduce SAMA-UNet, a novel architecture for medical image segmentation. A key innovation is the Self-Adaptive Mamba-like Aggregated Attention (SAMA) block, which integrates contextual self-attention with dynamic weight modulation to prioritise the most relevant features based on local and global contexts. This approach reduces computational complexity and improves the representation of complex image features across multiple scales. We also suggest the Causal-Resonance Multi-Scale Module (CR-MSM), which enhances the flow of information between the encoder and decoder by using causal resonance learning. This mechanism allows the model to automatically adjust feature resolution and causal dependencies across scales, leading to better semantic alignment between the low-level and high-level features in U-shaped architectures. Experiments on MRI, CT, and endoscopy images show that SAMA-UNet performs better in segmentation accuracy than current methods using CNN, Transformer, and Mamba. The implementation is publicly available at GitHub.

Lung cancer remains among the deadliest types of cancer in recent decades, and early lung nodule detection is crucial for improving patient outcomes. The limited availability of annotated medical imaging data remains a bottleneck in developing accurate computer-aided diagnosis (CAD) systems. Self-supervised learning can help leverage large amounts of unlabeled data to develop more robust CAD systems. With the recent advent of transformer-based architecture and their ability to generalize to unseen tasks, there has been an effort within the healthcare community to adapt them to various medical downstream tasks. Thus, we propose a novel "LungNodule-SSM" method, which utilizes selfsupervised learning with DINOv2 as a backbone to enhance lung nodule detection and classification without annotated data. Our methodology has two stages: firstly, the DINOv2 model is pre-trained on unlabeled CT scans to learn robust feature representations, then secondly, these features are fine-tuned using transformer-based architectures for lesionlevel detection and accurate lung nodule diagnosis. The proposed method has been evaluated on the challenging LUNA 16 dataset, consisting of 888 CT scans, and compared with SOTA methods. Our experimental results show the superiority of our proposed method with an accuracy of 98.37%, explaining its effectiveness in lung nodule detection. The source code, datasets, and pre-processed data can be accessed using the link:https://github.com/EMeRALDsNRPU/Lung-Nodule-SSM-Self-Supervised-Lung-Nodule-Detection-and-Classification/tree/main

Magnetic Resonance Imaging (MRI) is highly susceptible to motion artifacts due to the extended acquisition times required for k-space sampling. These artifacts can compromise diagnostic utility, particularly for dynamic imaging. We propose a novel alternating minimization framework that leverages a bespoke diffusion model to jointly reconstruct and correct non-rigid motion-corrupted k-space data. The diffusion model uses a coarse-to-fine denoising strategy to capture large overall motion and reconstruct the lower frequencies of the image first, providing a better inductive bias for motion estimation than that of standard diffusion models. We demonstrate the performance of our approach on both real-world cine cardiac MRI datasets and complex simulated rigid and non-rigid deformations, even when each motion state is undersampled by a factor of 64x. Additionally, our method is agnostic to sampling patterns, anatomical variations, and MRI scanning protocols, as long as some low frequency components are sampled during each motion state.

The brain is a highly complex organ that manages many important tasks, including movement, memory and thinking. Brain-related conditions, like tumors and degenerative disorders, can be hard to diagnose and treat. Magnetic Resonance Imaging (MRI) serves as a key tool for identifying these conditions, offering high-resolution images of brain structures. Despite this, interpreting MRI scans can be complicated. This study tackles this challenge by conducting a comparative analysis of Vision Transformer (ViT) and Transfer Learning (TL) models such as VGG16, VGG19, Resnet50V2, MobilenetV2 for classifying brain diseases using MRI data from Bangladesh based dataset. ViT, known for their ability to capture global relationships in images, are particularly effective for medical imaging tasks. Transfer learning helps to mitigate data constraints by fine-tuning pre-trained models. Furthermore, Explainable AI (XAI) methods such as GradCAM, GradCAM++, LayerCAM, ScoreCAM, and Faster-ScoreCAM are employed to interpret model predictions. The results demonstrate that ViT surpasses transfer learning models, achieving a classification accuracy of 94.39%. The integration of XAI methods enhances model transparency, offering crucial insights to aid medical professionals in diagnosing brain diseases with greater precision.