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Myo-Guide: A Machine Learning-Based Web Application for Neuromuscular Disease Diagnosis With MRI.

Verdu-Diaz J, Bolano-Díaz C, Gonzalez-Chamorro A, Fitzsimmons S, Warman-Chardon J, Kocak GS, Mucida-Alvim D, Smith IC, Vissing J, Poulsen NS, Luo S, Domínguez-González C, Bermejo-Guerrero L, Gomez-Andres D, Sotoca J, Pichiecchio A, Nicolosi S, Monforte M, Brogna C, Mercuri E, Bevilacqua JA, Díaz-Jara J, Pizarro-Galleguillos B, Krkoska P, Alonso-Pérez J, Olivé M, Niks EH, Kan HE, Lilleker J, Roberts M, Buchignani B, Shin J, Esselin F, Le Bars E, Childs AM, Malfatti E, Sarkozy A, Perry L, Sudhakar S, Zanoteli E, Di Pace FT, Matthews E, Attarian S, Bendahan D, Garibaldi M, Fionda L, Alonso-Jiménez A, Carlier R, Okhovat AA, Nafissi S, Nalini A, Vengalil S, Hollingsworth K, Marini-Bettolo C, Straub V, Tasca G, Bacardit J, Díaz-Manera J

pubmed logopapersJun 1 2025
Neuromuscular diseases (NMDs) are rare disorders characterized by progressive muscle fibre loss, leading to replacement by fibrotic and fatty tissue, muscle weakness and disability. Early diagnosis is critical for therapeutic decisions, care planning and genetic counselling. Muscle magnetic resonance imaging (MRI) has emerged as a valuable diagnostic tool by identifying characteristic patterns of muscle involvement. However, the increasing complexity of these patterns complicates their interpretation, limiting their clinical utility. Additionally, multi-study data aggregation introduces heterogeneity challenges. This study presents a novel multi-study harmonization pipeline for muscle MRI and an AI-driven diagnostic tool to assist clinicians in identifying disease-specific muscle involvement patterns. We developed a preprocessing pipeline to standardize MRI fat content across datasets, minimizing source bias. An ensemble of XGBoost models was trained to classify patients based on intramuscular fat replacement, age at MRI and sex. The SHapley Additive exPlanations (SHAP) framework was adapted to analyse model predictions and identify disease-specific muscle involvement patterns. To address class imbalance, training and evaluation were conducted using class-balanced metrics. The model's performance was compared against four expert clinicians using 14 previously unseen MRI scans. Using our harmonization approach, we curated a dataset of 2961 MRI samples from genetically confirmed cases of 20 paediatric and adult NMDs. The model achieved a balanced accuracy of 64.8% ± 3.4%, with a weighted top-3 accuracy of 84.7% ± 1.8% and top-5 accuracy of 90.2% ± 2.4%. It also identified key features relevant for differential diagnosis, aiding clinical decision-making. Compared to four expert clinicians, the model obtained the highest top-3 accuracy (75.0% ± 4.8%). The diagnostic tool has been implemented as a free web platform, providing global access to the medical community. The application of AI in muscle MRI for NMD diagnosis remains underexplored due to data scarcity. This study introduces a framework for dataset harmonization, enabling advanced computational techniques. Our findings demonstrate the potential of AI-based approaches to enhance differential diagnosis by identifying disease-specific muscle involvement patterns. The developed tool surpasses expert performance in diagnostic ranking and is accessible to clinicians worldwide via the Myo-Guide online platform.

Semi-supervised spatial-frequency transformer for metal artifact reduction in maxillofacial CT and evaluation with intraoral scan.

Li Y, Ma C, Li Z, Wang Z, Han J, Shan H, Liu J

pubmed logopapersJun 1 2025
To develop a semi-supervised domain adaptation technique for metal artifact reduction with a spatial-frequency transformer (SFTrans) model (Semi-SFTrans), and to quantitatively compare its performance with supervised models (Sup-SFTrans and ResUNet) and traditional linear interpolation MAR method (LI) in oral and maxillofacial CT. Supervised models, including Sup-SFTrans and a state-of-the-art model termed ResUNet, were trained with paired simulated CT images, while semi-supervised model, Semi-SFTrans, was trained with both paired simulated and unpaired clinical CT images. For evaluation on the simulated data, we calculated Peak Signal-to-Noise Ratio (PSNR) and Structural Similarity Index Measure (SSIM) on the images corrected by four methods: LI, ResUNet, Sup-SFTrans, and Semi-SFTrans. For evaluation on the clinical data, we collected twenty-two clinical cases with real metal artifacts, and the corresponding intraoral scan data. Three radiologists visually assessed the severity of artifacts using Likert scales on the original, Sup-SFTrans-corrected, and Semi-SFTrans-corrected images. Quantitative MAR evaluation was conducted by measuring Mean Hounsfield Unit (HU) values, standard deviations, and Signal-to-Noise Ratios (SNRs) across Regions of Interest (ROIs) such as the tongue, bilateral buccal, lips, and bilateral masseter muscles, using paired t-tests and Wilcoxon signed-rank tests. Further, teeth integrity in the corrected images was assessed by comparing teeth segmentation results from the corrected images against the ground-truth segmentation derived from registered intraoral scan data, using Dice Score and Hausdorff Distance. Sup-SFTrans outperformed LI, ResUNet and Semi-SFTrans on the simulated dataset. Visual assessments from the radiologists showed that average scores were (2.02 ± 0.91) for original CT, (4.46 ± 0.51) for Semi-SFTrans CT, and (3.64 ± 0.90) for Sup-SFTrans CT, with intra correlation coefficients (ICCs)>0.8 of all groups and p < 0.001 between groups. On soft tissue, both Semi-SFTrans and Sup-SFTrans significantly reduced metal artifacts in tongue (p < 0.001), lips, bilateral buccal regions, and masseter muscle areas (p < 0.05). Semi-SFTrans achieved superior metal artifact reduction than Sup-SFTrans in all ROIs (p < 0.001). SNR results indicated significant differences between Semi-SFTrans and Sup-SFTrans in tongue (p = 0.0391), bilateral buccal (p = 0.0067), lips (p = 0.0208), and bilateral masseter muscle areas (p = 0.0031). Notably, Semi-SFTrans demonstrated better teeth integrity preservation than Sup-SFTrans (Dice Score: p < 0.001; Hausdorff Distance: p = 0.0022). The semi-supervised MAR model, Semi-SFTrans, demonstrated superior metal artifact reduction performance over supervised counterparts in real dental CT images.

Future prospects of deep learning in esophageal cancer diagnosis and clinical decision support (Review).

Lin A, Song L, Wang Y, Yan K, Tang H

pubmed logopapersJun 1 2025
Esophageal cancer (EC) is one of the leading causes of cancer-related mortality worldwide, still faces significant challenges in early diagnosis and prognosis. Early EC lesions often present subtle symptoms and current diagnostic methods are limited in accuracy due to tumor heterogeneity, lesion morphology and variable image quality. These limitations are particularly prominent in the early detection of precancerous lesions such as Barrett's esophagus. Traditional diagnostic approaches, such as endoscopic examination, pathological analysis and computed tomography, require improvements in diagnostic precision and staging accuracy. Deep learning (DL), a key branch of artificial intelligence, shows great promise in improving the detection of early EC lesions, distinguishing benign from malignant lesions and aiding cancer staging and prognosis. However, challenges remain, including image quality variability, insufficient data annotation and limited generalization. The present review summarized recent advances in the application of DL to medical images obtained through various imaging techniques for the diagnosis of EC at different stages. It assesses the role of DL in tumor pathology, prognosis prediction and clinical decision support, highlighting its advantages in EC diagnosis and prognosis evaluation. Finally, it provided an objective analysis of the challenges currently facing the field and prospects for future applications.

Impact of artificial intelligence assisted lesion detection on radiologists' interpretation at multiparametric prostate MRI.

Nakrour N, Cochran RL, Mercaldo ND, Bradley W, Tsai LL, Prajapati P, Grimm R, von Busch H, Lo WC, Harisinghani MG

pubmed logopapersJun 1 2025
To compare prostate cancer lesion detection using conventional and artificial intelligence (AI)-assisted image interpretation at multiparametric MRI (mpMRI). A retrospective study of 53 consecutive patients who underwent prostate mpMRI and subsequent prostate tissue sampling was performed. Two board-certified radiologists (with 4 and 12 years of experience) blinded to the clinical information interpreted anonymized exams using the PI-RADS v2.1 framework without and with an AI-assistance tool. The AI software tool provided radiologists with gland segmentation and automated lesion detection assigning a probability score for the likelihood of the presence of clinically significant prostate cancer (csPCa). The reference standard for all cases was the prostate pathology from systematic and targeted biopsies. Statistical analyses assessed interrater agreement and compared diagnostic performances with and without AI assistance. Within the entire cohort, 42 patients (79 %) harbored Gleason-positive disease, with 25 patients (47 %) having csPCa. Radiologists' diagnostic performance for csPCa was significantly improved over conventional interpretation with AI assistance (reader A: AUC 0.82 vs. 0.72, p = 0.03; reader B: AUC 0.78 vs. 0.69, p = 0.03). Without AI assistance, 81 % (n = 36; 95 % CI: 0.89-0.91) of the lesions were scored similarly by radiologists for lesion-level characteristics, and with AI assistance, 59 % (26, 0.82-0.89) of the lesions were scored similarly. For reader A, there was a significant difference in PI-RADS scores (p = 0.02) between AI-assisted and non-assisted assessments. Signficant differences were not detected for reader B. AI-assisted prostate mMRI interpretation improved radiologist diagnostic performance over conventional interpretation independent of reader experience.

Pediatric chest X-ray diagnosis using neuromorphic models.

Bokhari SM, Sohaib S, Shafi M

pubmed logopapersJun 1 2025
This research presents an innovative neuromorphic method utilizing Spiking Neural Networks (SNNs) to analyze pediatric chest X-rays (PediCXR) to identify prevalent thoracic illnesses. We incorporate spiking-based machine learning models such as Spiking Convolutional Neural Networks (SCNN), Spiking Residual Networks (S-ResNet), and Hierarchical Spiking Neural Networks (HSNN), for pediatric chest radiographic analysis utilizing the publically available benchmark PediCXR dataset. These models employ spatiotemporal feature extraction, residual connections, and event-driven processing to improve diagnostic precision. The HSNN model surpasses benchmark approaches from the literature, with a classification accuracy of 96% across six thoracic illness categories, with an F1-score of 0.95 and a specificity of 1.0 in pneumonia detection. Our research demonstrates that neuromorphic computing is a feasible and biologically inspired approach to real-time medical imaging diagnostics, significantly improving performance.

Visceral Fat Quantified by a Fully Automated Deep-Learning Algorithm and Risk of Incident and Recurrent Diverticulitis.

Ha J, Bridge CP, Andriole KP, Kambadakone A, Clark MJ, Narimiti A, Rosenthal MH, Fintelmann FJ, Gollub RL, Giovannucci EL, Strate LL, Ma W, Chan AT

pubmed logopapersJun 1 2025
Obesity is a risk factor for diverticulitis. However, it remains unclear whether visceral fat area, a more precise measurement of abdominal fat, is associated with the risk of diverticulitis. To estimate the risk of incident and recurrent diverticulitis according to visceral fat area. A retrospective cohort study. The Mass General Brigham Biobank. A total of 6654 patients who underwent abdominal CT for clinical indications and had no diagnosis of diverticulitis, IBD, or cancer before the scan were included. Visceral fat area, subcutaneous fat area, and skeletal muscle area were quantified using a deep-learning model applied to abdominal CT. The main exposures were z -scores of body composition metrics normalized by age, sex, and race. Diverticulitis cases were identified using the International Classification of Diseases codes for the primary or admitting diagnosis from the electronic health records. The risks of incident diverticulitis, complicated diverticulitis, and recurrent diverticulitis requiring hospitalization according to quartiles of body composition metrics z -scores were estimated. A higher visceral fat area z -score was associated with an increased risk of incident diverticulitis (multivariable HR comparing the highest vs lowest quartile, 2.09; 95% CI, 1.48-2.95; p for trend <0.0001), complicated diverticulitis (HR, 2.56; 95% CI, 1.10-5.99; p for trend = 0.02), and recurrence requiring hospitalization (HR, 2.76; 95% CI, 1.15-6.62; p for trend = 0.03). The association between visceral fat area and diverticulitis was not materially different among different strata of BMI. Subcutaneous fat area and skeletal muscle area were not significantly associated with diverticulitis. The study population was limited to individuals who underwent CT scans for medical indication. Higher visceral fat area derived from CT was associated with incident and recurrent diverticulitis. Our findings provide insight into the underlying pathophysiology of diverticulitis and may have implications for preventive strategies. See Video Abstract . ANTECEDENTES:La obesidad es un factor de riesgo de la diverticulitis. Sin embargo, sigue sin estar claro si el área de grasa visceral, con medida más precisa de la grasa abdominal esté asociada con el riesgo de diverticulitis.OBJETIVO:Estimar el riesgo de diverticulitis incidente y recurrente de acuerdo con el área de grasa visceral.DISEÑO:Un estudio de cohorte retrospectivo.AJUSTE:El Biobanco Mass General Brigham.PACIENTES:6.654 pacientes sometidos a una TC abdominal por indicaciones clínicas y sin diagnóstico de diverticulitis, enfermedad inflamatoria intestinal o cáncer antes de la exploración.PRINCIPALES MEDIDAS DE RESULTADOS:Se cuantificaron, área de grasa visceral, área de grasa subcutánea y área de músculo esquelético, utilizando un modelo de aprendizaje profundo aplicado a la TC abdominal. Las principales exposiciones fueron puntuaciones z de métricas de composición corporal, normalizadas por edad, sexo y raza. Los casos de diverticulitis se definieron con los códigos ICD para el diagnóstico primario o de admisión de los registros de salud electrónicos. Se estimaron los riesgos de diverticulitis incidente, diverticulitis complicada y diverticulitis recurrente que requiriera hospitalización según los cuartiles de las puntuaciones z de las métricas de composición corporal.RESULTADOS:Una puntuación z más alta del área de grasa visceral se asoció con un mayor riesgo de diverticulitis incidente (HR multivariable que compara el cuartil más alto con el más bajo, 2,09; IC del 95 %, 1,48-2,95; P para la tendencia < 0,0001), diverticulitis complicada (HR, 2,56; IC del 95 %, 1,10-5,99; P para la tendencia = 0,02) y recurrencia que requiriera hospitalización (HR, 2,76; IC del 95 %, 1,15-6,62; P para la tendencia = 0,03). La asociación entre el área de grasa visceral y la diverticulitis no fue materialmente diferente entre los diferentes estratos del índice de masa corporal. El área de grasa subcutánea y el área del músculo esquelético no se asociaron significativamente con la diverticulitis.LIMITACIONES:La población del estudio se limitó a individuos sometidos a tomografías computarizadas por indicación médica.CONCLUSIÓN:Una mayor área de grasa visceral derivada de la tomografía computarizada se asoció con diverticulitis incidente y recurrente. Nuestros hallazgos brindan información sobre la fisiopatología subyacente de la diverticulitis y pueden tener implicaciones para las estrategias preventivas. (Traducción: Dr. Fidel Ruiz Healy ).

An Intelligent Model of Segmentation and Classification Using Enhanced Optimization-Based Attentive Mask RCNN and Recurrent MobileNet With LSTM for Multiple Sclerosis Types With Clinical Brain MRI.

Gopichand G, Bhargavi KN, Ramprasad MVS, Kodavanti PV, Padmavathi M

pubmed logopapersJun 1 2025
In healthcare sector, magnetic resonance imaging (MRI) images are taken for multiple sclerosis (MS) assessment, classification, and management. However, interpreting an MRI scan requires an exceptional amount of skill because abnormalities on scans are frequently inconsistent with clinical symptoms, making it difficult to convert the findings into effective treatment strategies. Furthermore, MRI is an expensive process, and its frequent utilization to monitor an illness increases healthcare costs. To overcome these drawbacks, this research employs advanced technological approaches to develop a deep learning system for classifying types of MS through clinical brain MRI scans. The major innovation of this model is to influence the convolution network with attention concept and recurrent-based deep learning for classifying the disorder; this also proposes an optimization algorithm for tuning the parameter to enhance the performance. Initially, the total images as 3427 are collected from database, in which the collected samples are categorized for training and testing phase. Here, the segmentation is carried out by adaptive and attentive-based mask regional convolution neural network (AA-MRCNN). In this phase, the MRCNN's parameters are finely tuned with an enhanced pine cone optimization algorithm (EPCOA) to guarantee outstanding efficiency. Further, the segmented image is given to recurrent MobileNet with long short term memory (RM-LSTM) for getting the classification outcomes. Through experimental analysis, this deep learning model is acquired 95.4% for accuracy, 95.3% for sensitivity, and 95.4% for specificity. Hence, these results prove that it has high potential for appropriately classifying the sclerosis disorder.

FedSynthCT-Brain: A federated learning framework for multi-institutional brain MRI-to-CT synthesis.

Raggio CB, Zabaleta MK, Skupien N, Blanck O, Cicone F, Cascini GL, Zaffino P, Migliorelli L, Spadea MF

pubmed logopapersJun 1 2025
The generation of Synthetic Computed Tomography (sCT) images has become a pivotal methodology in modern clinical practice, particularly in the context of Radiotherapy (RT) treatment planning. The use of sCT enables the calculation of doses, pushing towards Magnetic Resonance Imaging (MRI) guided radiotherapy treatments. Moreover, with the introduction of MRI-Positron Emission Tomography (PET) hybrid scanners, the derivation of sCT from MRI can improve the attenuation correction of PET images. Deep learning methods for MRI-to-sCT have shown promising results, but their reliance on single-centre training dataset limits generalisation capabilities to diverse clinical settings. Moreover, creating centralised multi-centre datasets may pose privacy concerns. To address the aforementioned issues, we introduced FedSynthCT-Brain, an approach based on the Federated Learning (FL) paradigm for MRI-to-sCT in brain imaging. This is among the first applications of FL for MRI-to-sCT, employing a cross-silo horizontal FL approach that allows multiple centres to collaboratively train a U-Net-based deep learning model. We validated our method using real multicentre data from four European and American centres, simulating heterogeneous scanner types and acquisition modalities, and tested its performance on an independent dataset from a centre outside the federation. In the case of the unseen centre, the federated model achieved a median Mean Absolute Error (MAE) of 102.0 HU across 23 patients, with an interquartile range of 96.7-110.5 HU. The median (interquartile range) for the Structural Similarity Index (SSIM) and the Peak Signal to Noise Ratio (PNSR) were 0.89 (0.86-0.89) and 26.58 (25.52-27.42), respectively. The analysis of the results showed acceptable performances of the federated approach, thus highlighting the potential of FL to enhance MRI-to-sCT to improve generalisability and advancing safe and equitable clinical applications while fostering collaboration and preserving data privacy.

Opportunistic assessment of osteoporosis using hip and pelvic X-rays with OsteoSight™: validation of an AI-based tool in a US population.

Pignolo RJ, Connell JJ, Briggs W, Kelly CJ, Tromans C, Sultana N, Brady JM

pubmed logopapersJun 1 2025
Identifying patients at risk of low bone mineral density (BMD) from X-rays presents an attractive approach to increase case finding. This paper showed the diagnostic accuracy, reproducibility, and robustness of a new technology: OsteoSight™. OsteoSight could increase diagnosis and preventive treatment rates for patients with low BMD. This study aimed to evaluate the diagnostic accuracy, reproducibility, and robustness of OsteoSight™, an automated image analysis tool designed to identify low bone mineral density (BMD) from routine hip and pelvic X-rays. Given the global rise in osteoporosis-related fractures and the limitations of current diagnostic paradigms, OsteoSight offers a scalable solution that integrates into existing clinical workflows. Performance of the technology was tested across three key areas: (1) diagnostic accuracy in identifying low BMD as compared to dual-energy X-ray absorptiometry (DXA), the clinical gold standard; (2) reproducibility, through analysis of two images from the same patient; and (3) robustness, by evaluating the tool's performance across different patient demographics and X-ray scanner hardware. The diagnostic accuracy of OsteoSight for identifying patients at risk of low BMD was area under the receiver operating characteristic curve (AUROC) 0.834 [0.789-0.880], with consistent results across subgroups of clinical confounders and X-ray scanner hardware. Specificity 0.852 [0.783-0.930] and sensitivity 0.628 [0.538-0.743] met pre-specified acceptance criteria. The pre-processing pipeline successfully excluded unsuitable cases including incorrect body parts, metalwork, and unacceptable femur positioning. The results demonstrate that OsteoSight is accurate in identifying patients with low BMD. This suggests its utility as an opportunistic assessment tool, especially in settings where DXA accessibility is limited or not recently performed. The tool's reproducibility and robust performance across various clinical confounders further supports its integration into routine orthopedic and medical practices, potentially broadening the reach of osteoporosis assessment and enabling earlier intervention for at-risk patients.

AI-supported approaches for mammography single and double reading: A controlled multireader study.

Brancato B, Magni V, Saieva C, Risso GG, Buti F, Catarzi S, Ciuffi F, Peruzzi F, Regini F, Ambrogetti D, Alabiso G, Cruciani A, Doronzio V, Frati S, Giannetti GP, Guerra C, Valente P, Vignoli C, Atzori S, Carrera V, D'Agostino G, Fazzini G, Picano E, Turini FM, Vani V, Fantozzi F, Vietro D, Cavallero D, Vietro F, Plataroti D, Schiaffino S, Cozzi A

pubmed logopapersJun 1 2025
To assess the impact of artificial intelligence (AI) on the diagnostic performance of radiologists with varying experience levels in mammography reading, considering single and simulated double reading approaches. In this retrospective study, 150 mammography examinations (30 with pathology-confirmed malignancies, 120 without malignancies [confirmed by 2-year follow-up]) were reviewed according to five approaches: A) human single reading by 26 radiologists of varying experience; B) AI single reading (Lunit INSIGHT MMG; C) human single reading with simultaneous AI support; D) simulated human-human double reading; E) simulated human-AI double reading, with AI as second independent reader flagging cases with a cancer probability ≥10 %. Sensitivity and specificity were calculated and compared using McNemar's test, univariate and multivariable logistic regression. Compared to single reading without AI support, single reading with simultaneous AI support improved mean sensitivity from 69.2 % (standard deviation [SD] 15.6) to 84.5 % (SD 8.1, p < 0.001), providing comparable mean specificity (91.8 % versus 90.8 %, p = 0.06). The sensitivity increase provided by the AI-supported single reading was largest in the group of radiologists with a sensitivity below the median in the non-supported single reading, from 56.7 % (SD 12.1) to 79.7 % (SD 10.2, p < 0.001). In the simulated human-AI double reading approach, sensitivity further increased to 91.8 % (SD 3.4), surpassing that of the human-human simulated double reading (87.4 %, SD 8.8, p = 0.016), with comparable mean specificity (from 84.0 % to 83.0 %, p = 0.17). AI support significantly enhanced sensitivity across all reading approaches, particularly benefiting worse performing radiologists. In the simulated double reading approaches, AI incorporation as independent second reader significantly increased sensitivity without compromising specificity.
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