Marta Vallejo

Lubna M. Abu Zohair, Marta Vallejo, MD Azher Uddin et al.

Huntington's disease (HD) is a progressive brain disorder that gradually affects movement, cognitive function, and behavior. Identifying the stage of the disease accurately and consistently is important for understanding its course, grouping patients, personalized care, and discovering treatment. Existing clinical staging frameworks rely primarily on predefined clinical measurement thresholds and clinical expert decisions, yet these discrete cut-offs may obscure meaningful intra-stage variability and remain vulnerable to inter-rater differences, especially in motor and functional assessments. To address these limitations, we developed an unsupervised machine learning framework based on dynamic graph representation learning to capture temporal relationships within and across patients from longitudinal clinical measurements. Using the learned representations, we applied K-means++ clustering to identify well-separated groups. We then iteratively increased the number of clusters (k), using stability analysis to assess robustness and reveal additional meaningful clusters beyond the initial optimal solution. We applied the framework to 302 individuals from the Enroll-HD cohort (1,477 visits, 44 clinical variables per visit; 80% manifest participants), enabling data-driven discovery of HD stages reflecting natural clinical progression. Despite the limited cohort size, the proposed framework achieved robust clustering performance using a four-dimensional latent space, identifying four meaningful and statistically distinct disease stages through clustering stability analysis. Each stage corresponded to well-defined clinical measurement boundaries, with minimal overlap compared to previously established clinical staging methods.

James Ndubuisi, Fernando Auat, Marta Vallejo

This study evaluates the efficacy of vision transformer models, specifically Swin transformers, in enhancing the diagnostic accuracy of ear diseases compared to traditional convolutional neural networks. With a reported 27% misdiagnosis rate among specialist otolaryngologists, improving diagnostic accuracy is crucial. The research utilised a real-world dataset from the Department of Otolaryngology at the Clinical Hospital of the Universidad de Chile, comprising otoscopic videos of ear examinations depicting various middle and external ear conditions. Frames were selected based on the Laplacian and Shannon entropy thresholds, with blank frames removed. Initially, Swin v1 and Swin v2 transformer models achieved accuracies of 100% and 99.1%, respectively, marginally outperforming the ResNet model (99.5%). These results surpassed metrics reported in related studies. However, the evaluation uncovered a critical data leakage issue in the preprocessing step, affecting both this study and related research using the same raw dataset. After mitigating the data leakage, model performance decreased significantly. Corrected accuracies were 83% for both Swin v1 and Swin v2, and 82% for the ResNet model. This finding highlights the importance of rigorous data handling in machine learning studies, especially in medical applications. The findings indicate that while vision transformers show promise, it is essential to find an optimal balance between the benefits of advanced model architectures and those derived from effective data preprocessing. This balance is key to developing a reliable machine learning model for diagnosing ear diseases.

Qiang Wang, Susan Fernandes, Gareth O. S. Williams et al.

Autofluorescence lifetime images reveal unique characteristics of endogenous fluorescence in biological samples. Comprehensive understanding and clinical diagnosis rely on co-registration with the gold standard, histology images, which is extremely challenging due to the difference of both images. Here, we show an unsupervised image-to-image translation network that significantly improves the success of the co-registration using a conventional optimisation-based regression network, applicable to autofluorescence lifetime images at different emission wavelengths. A preliminary blind comparison by experienced researchers shows the superiority of our method on co-registration. The results also indicate that the approach is applicable to various image formats, like fluorescence intensity images. With the registration, stitching outcomes illustrate the distinct differences of the spectral lifetime across an unstained tissue, enabling macro-level rapid visual identification of lung cancer and cellular-level characterisation of cell variants and common types. The approach could be effortlessly extended to lifetime images beyond this range and other staining technologies.