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Search Results (5,416)

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Keywords = early detection and diagnosis

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13 pages, 643 KiB  
Article
Using Artificial Intelligence for Detecting Diabetic Foot Osteomyelitis: Validation of Deep Learning Model for Plain Radiograph Interpretation
by Francisco Javier Álvaro-Afonso, Aroa Tardáguila-García, Mateo López-Moral, Irene Sanz-Corbalán, Esther García-Morales and José Luis Lázaro-Martínez
Appl. Sci. 2025, 15(15), 8583; https://doi.org/10.3390/app15158583 (registering DOI) - 1 Aug 2025
Abstract
Objective: To develop and validate a ResNet-50-based deep learning model for automatic detection of osteomyelitis (DFO) in plain radiographs of patients with diabetic foot ulcers (DFUs). Research Design and Methods: This retrospective study included 168 patients with type one or type two diabetes [...] Read more.
Objective: To develop and validate a ResNet-50-based deep learning model for automatic detection of osteomyelitis (DFO) in plain radiographs of patients with diabetic foot ulcers (DFUs). Research Design and Methods: This retrospective study included 168 patients with type one or type two diabetes and clinical suspicion of DFO confirmed via a surgical bone biopsy. An experienced clinician and a pretrained ResNet-50 model independently interpreted the radiographs. The model was developed using Python-based frameworks with ChatGPT assistance for coding. The diagnostic performance was assessed against the histopathological findings, calculating sensitivity, specificity, the positive predictive value (PPV), the negative predictive value (NPV), and the likelihood ratios. Agreement between the AI model and the clinician was evaluated using Cohen’s kappa coefficient. Results: The AI model demonstrated high sensitivity (92.8%) and PPV (0.97), but low-level specificity (4.4%). The clinician showed 90.2% sensitivity and 37.8% specificity. The Cohen’s kappa coefficient between the AI model and the clinician was −0.105 (p = 0.117), indicating weak agreement. Both the methods tended to classify many cases as DFO-positive, with 81.5% agreement in the positive cases. Conclusions: This study demonstrates the potential of IA to support the radiographic diagnosis of DFO using a ResNet-50-based deep learning model. AI-assisted radiographic interpretation could enhance early DFO detection, particularly in high-prevalence settings. However, further validation is necessary to improve its specificity and assess its utility in primary care. Full article
(This article belongs to the Special Issue Applications of Sensors in Biomechanics and Biomedicine)
24 pages, 3553 KiB  
Article
A Hybrid Artificial Intelligence Framework for Melanoma Diagnosis Using Histopathological Images
by Alberto Nogales, María C. Garrido, Alfredo Guitian, Jose-Luis Rodriguez-Peralto, Carlos Prados Villanueva, Delia Díaz-Prieto and Álvaro J. García-Tejedor
Technologies 2025, 13(8), 330; https://doi.org/10.3390/technologies13080330 (registering DOI) - 1 Aug 2025
Abstract
Cancer remains one of the most significant global health challenges due to its high mortality rates and the limited understanding of its progression. Early diagnosis is critical to improving patient outcomes, especially in skin cancer, where timely detection can significantly enhance recovery rates. [...] Read more.
Cancer remains one of the most significant global health challenges due to its high mortality rates and the limited understanding of its progression. Early diagnosis is critical to improving patient outcomes, especially in skin cancer, where timely detection can significantly enhance recovery rates. Histopathological analysis is a widely used diagnostic method, but it is a time-consuming process that heavily depends on the expertise of highly trained specialists. Recent advances in Artificial Intelligence have shown promising results in image classification, highlighting its potential as a supportive tool for medical diagnosis. In this study, we explore the application of hybrid Artificial Intelligence models for melanoma diagnosis using histopathological images. The dataset used consisted of 506 histopathological images, from which 313 curated images were selected after quality control and preprocessing. We propose a two-step framework that employs an Autoencoder for dimensionality reduction and feature extraction of the images, followed by a classification algorithm to distinguish between melanoma and nevus, trained on the extracted feature vectors from the bottleneck of the Autoencoder. We evaluated Support Vector Machines, Random Forest, Multilayer Perceptron, and K-Nearest Neighbours as classifiers. Among these, the combinations of Autoencoder with K-Nearest Neighbours achieved the best performance and inference time, reaching an average accuracy of approximately 97.95% on the test set and requiring 3.44 min per diagnosis. The baseline comparison results were consistent, demonstrating strong generalisation and outperforming the other models by 2 to 13 percentage points. Full article
(This article belongs to the Special Issue Application of Artificial Intelligence in Medical Image Analysis)
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12 pages, 257 KiB  
Article
Evaluating the Diagnostic Potential of the FIB-4 Index for Cystic Fibrosis-Associated Liver Disease in Adults: A Comparison with Transient Elastography
by Stephen Armstrong, Kingston Rajiah, Aaron Courtenay, Nermeen Ali and Ahmed Abuelhana
J. Clin. Med. 2025, 14(15), 5404; https://doi.org/10.3390/jcm14155404 (registering DOI) - 31 Jul 2025
Abstract
Background/Objectives: Cystic fibrosis-associated liver disease (CFLD) is a significant complication in individuals with cystic fibrosis (CF), contributing to morbidity and mortality, with no universally accepted, reliable, non-invasive diagnostic tool for early detection. Current diagnostic methods, including liver biopsy and imaging, remain resource-intensive [...] Read more.
Background/Objectives: Cystic fibrosis-associated liver disease (CFLD) is a significant complication in individuals with cystic fibrosis (CF), contributing to morbidity and mortality, with no universally accepted, reliable, non-invasive diagnostic tool for early detection. Current diagnostic methods, including liver biopsy and imaging, remain resource-intensive and invasive. Non-invasive biomarkers like the Fibrosis-4 (FIB-4) index have shown promise in diagnosing liver fibrosis in various chronic liver diseases. This study explores the potential of the FIB-4 index to predict CFLD in an adult CF population and assesses its correlation with transient elastography (TE) as a potential diagnostic tool. The aim of this study is to evaluate the diagnostic performance of the FIB-4 index for CFLD in adults with CF and investigate its relationship with TE-based liver stiffness measurements (LSM). Methods: The study was conducted in a regional cystic fibrosis unit, including 261 adult CF patients. FIB-4 scores were calculated using an online tool (mdcalc.com) based on patient age, aspartate aminotransferase (AST), alanine aminotransferase (ALT), and platelet count. In parallel, 29 patients underwent liver stiffness measurement using TE (Fibroscan®). Statistical analyses included non-parametric tests for group comparisons and Pearson’s correlation to assess the relationship between FIB-4 scores and TE results. Results: The mean FIB-4 score in patients diagnosed with CFLD was higher (0.99 ± 0.83) compared to those without CFLD (0.64 ± 0.38), although the difference was not statistically significant (p > 0.05). TE results for CFLD patients (5.9 kPa) also did not show a significant difference compared to non-CFLD patients (4.2 ± 1.6 kPa, p > 0.05). However, a positive correlation (r = 0.401, p = 0.031) was found between FIB-4 scores and TE-based LSM, suggesting a potential complementary diagnostic role. Conclusions: The FIB-4 index, while not sufficient as a standalone diagnostic tool for CFLD in adults with CF, demonstrates potential when used in conjunction with other diagnostic methods like TE. This study introduces a novel approach for integrating non-invasive diagnostic markers in CF care, offering a pathway for future clinical practice. The combination of FIB-4 and TE could serve as an accessible, cost-effective alternative to invasive diagnostic techniques, improving early diagnosis and management of CFLD in the CF population. Additionally, future research should explore the integration of these tools with emerging biomarkers and clinical features to refine diagnostic algorithms for CFLD, potentially reducing reliance on liver biopsies and improving patient outcomes. Full article
(This article belongs to the Section Intensive Care)
18 pages, 316 KiB  
Review
Pancreatic Stone Protein as a Versatile Biomarker: Current Evidence and Clinical Applications
by Federica Arturi, Gabriele Melegari, Riccardo Mancano, Fabio Gazzotti, Elisabetta Bertellini and Alberto Barbieri
Diseases 2025, 13(8), 240; https://doi.org/10.3390/diseases13080240 - 31 Jul 2025
Abstract
Background: The identification and clinical implementation of robust biomarkers are essential for improving diagnosis, prognosis, and treatment across a wide range of diseases. Pancreatic stone protein (PSP) has recently emerged as a promising candidate biomarker. Objective: This narrative review aims to provide an [...] Read more.
Background: The identification and clinical implementation of robust biomarkers are essential for improving diagnosis, prognosis, and treatment across a wide range of diseases. Pancreatic stone protein (PSP) has recently emerged as a promising candidate biomarker. Objective: This narrative review aims to provide an updated and comprehensive overview of the clinical applications of PSP in infectious, oncological, metabolic, and surgical contexts. Methods: We conducted a structured literature search using PubMed®, applying the SANRA framework for narrative reviews. Boolean operators were used to retrieve relevant studies on PSP in a wide range of clinical conditions, including sepsis, gastrointestinal cancers, diabetes, and ventilator-associated pneumonia. Results: PSP has shown strong diagnostic and prognostic potential in sepsis, where it may outperform traditional markers such as CRP and PCT. It has also demonstrated relevance in gastrointestinal cancers, type 1 and type 2 diabetes, and perioperative infections. PSP levels appear to rise earlier than other inflammatory markers and may be less affected by sterile inflammation. Conclusion: PSP represents a versatile and clinically valuable biomarker. Its integration into diagnostic protocols could enhance early detection and risk stratification in critical care and oncology settings. However, widespread adoption is currently limited by the availability of point-of-care assay platforms. Full article
13 pages, 1001 KiB  
Review
Old and New Definitions of Acute Respiratory Distress Syndrome (ARDS): An Overview of Practical Considerations and Clinical Implications
by Cesare Biuzzi, Elena Modica, Noemi De Filippis, Daria Pizzirani, Benedetta Galgani, Agnese Di Chiaro, Daniele Marianello, Federico Franchi, Fabio Silvio Taccone and Sabino Scolletta
Diagnostics 2025, 15(15), 1930; https://doi.org/10.3390/diagnostics15151930 - 31 Jul 2025
Viewed by 26
Abstract
Lower respiratory tract infections remain a leading cause of morbidity and mortality among Intensive Care Unit patients, with severe cases often progressing to acute respiratory distress syndrome (ARDS). This life-threatening syndrome results from alveolar–capillary membrane injury, causing refractory hypoxemia and respiratory failure. Early [...] Read more.
Lower respiratory tract infections remain a leading cause of morbidity and mortality among Intensive Care Unit patients, with severe cases often progressing to acute respiratory distress syndrome (ARDS). This life-threatening syndrome results from alveolar–capillary membrane injury, causing refractory hypoxemia and respiratory failure. Early detection and management are critical to treat the underlying cause, provide protective lung ventilation, and, eventually, improve patient outcomes. The 2012 Berlin definition standardized ARDS diagnosis but excluded patients on non-invasive ventilation (NIV) or high-flow nasal cannula (HFNC) modalities, which are increasingly used, especially after the COVID-19 pandemic. By excluding these patients, diagnostic delays can occur, risking the progression of lung injury despite ongoing support. Indeed, sustained, vigorous respiratory efforts under non-invasive modalities carry significant potential for patient self-inflicted lung injury (P-SILI), underscoring the need to broaden diagnostic criteria to encompass these increasingly common therapies. Recent proposals expand ARDS criteria to include NIV and HFNCs, lung ultrasound, and the SpO2/FiO2 ratio adaptations designed to improve diagnosis in resource-limited settings lacking arterial blood gases or advanced imaging. However, broader criteria risk overdiagnosis and create challenges in distinguishing ARDS from other causes of acute hypoxemic failure. Furthermore, inter-observer variability in imaging interpretation and inconsistencies in oxygenation assessment, particularly when relying on non-invasive measurements, may compromise diagnostic reliability. To overcome these limitations, a more nuanced diagnostic framework is needed—one that incorporates individualized therapeutic strategies, emphasizes lung-protective ventilation, and integrates advanced physiological or biomarker-based indicators like IL-6, IL-8, and IFN-γ, which are associated with worse outcomes. Such an approach has the potential to improve patient stratification, enable more targeted interventions, and ultimately support the design and conduct of more effective interventional studies. Full article
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26 pages, 4572 KiB  
Article
Transfer Learning-Based Ensemble of CNNs and Vision Transformers for Accurate Melanoma Diagnosis and Image Retrieval
by Murat Sarıateş and Erdal Özbay
Diagnostics 2025, 15(15), 1928; https://doi.org/10.3390/diagnostics15151928 - 31 Jul 2025
Viewed by 39
Abstract
Background/Objectives: Melanoma is an aggressive type of skin cancer that poses serious health risks if not detected in its early stages. Although early diagnosis enables effective treatment, delays can result in life-threatening consequences. Traditional diagnostic processes predominantly rely on the subjective expertise [...] Read more.
Background/Objectives: Melanoma is an aggressive type of skin cancer that poses serious health risks if not detected in its early stages. Although early diagnosis enables effective treatment, delays can result in life-threatening consequences. Traditional diagnostic processes predominantly rely on the subjective expertise of dermatologists, which can lead to variability and time inefficiencies. Consequently, there is an increasing demand for automated systems that can accurately classify melanoma lesions and retrieve visually similar cases to support clinical decision-making. Methods: This study proposes a transfer learning (TL)-based deep learning (DL) framework for the classification of melanoma images and the enhancement of content-based image retrieval (CBIR) systems. Pre-trained models including DenseNet121, InceptionV3, Vision Transformer (ViT), and Xception were employed to extract deep feature representations. These features were integrated using a weighted fusion strategy and classified through an Ensemble learning approach designed to capitalize on the complementary strengths of the individual models. The performance of the proposed system was evaluated using classification accuracy and mean Average Precision (mAP) metrics. Results: Experimental evaluations demonstrated that the proposed Ensemble model significantly outperformed each standalone model in both classification and retrieval tasks. The Ensemble approach achieved a classification accuracy of 95.25%. In the CBIR task, the system attained a mean Average Precision (mAP) score of 0.9538, indicating high retrieval effectiveness. The performance gains were attributed to the synergistic integration of features from diverse model architectures through the ensemble and fusion strategies. Conclusions: The findings underscore the effectiveness of TL-based DL models in automating melanoma image classification and enhancing CBIR systems. The integration of deep features from multiple pre-trained models using an Ensemble approach not only improved accuracy but also demonstrated robustness in feature generalization. This approach holds promise for integration into clinical workflows, offering improved diagnostic accuracy and efficiency in the early detection of melanoma. Full article
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4 pages, 454 KiB  
Interesting Images
Texture and Color Enhancement Imaging-Assisted Endocytoscopy Improves Characterization of Gastric Precancerous Conditions: A Set of Interesting Comparative Images
by Riccardo Vasapolli, Johannes Raphael Westphal and Christian Schulz
Diagnostics 2025, 15(15), 1925; https://doi.org/10.3390/diagnostics15151925 - 31 Jul 2025
Viewed by 35
Abstract
Chronic atrophic gastritis and intestinal metaplasia (IM) are gastric precancerous conditions (GPCs) associated with an increased risk of gastric cancer. Early detection and accurate characterization of GPC are therefore crucial for risk stratification and the implementation of preventive strategies. In the absence of [...] Read more.
Chronic atrophic gastritis and intestinal metaplasia (IM) are gastric precancerous conditions (GPCs) associated with an increased risk of gastric cancer. Early detection and accurate characterization of GPC are therefore crucial for risk stratification and the implementation of preventive strategies. In the absence of clear mucosal changes observed through white-light imaging (WLI) or virtual chromoendoscopy, endocytoscopy can help unveil the presence of GPC by enabling in vivo assessment of nuclear and cellular structures at ultra-high magnification. Endocytoscopy is typically performed using WLI following dye-based staining of the mucosa. In this case, we demonstrate that combining endocytoscopy with the texture and color enhancement imaging (TXI) mode substantially improves the assessment of the gastric mucosa. In a 61-year-old man undergoing esophagogastroduodenoscopy, WLI showed multifocal erythema in the stomach, without clearly visible lesions on either WLI or narrow-band imaging. Conventional endocytoscopy revealed multiple small spots of IM with characteristic changes in glandular structures, which were even more evident when using the TXI mode. Histological analysis of targeted biopsies confirmed small foci of IM in both the antrum and corpus. The patient was enrolled in a surveillance program because of his clinical background. The combination of endocytoscopy with the TXI mode significantly enhances the delineation of mucosal and cellular architecture, supporting a more accurate optical diagnosis. Full article
(This article belongs to the Section Medical Imaging and Theranostics)
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21 pages, 570 KiB  
Review
Healthcare Complexities in Neurodegenerative Proteinopathies: A Narrative Review
by Seyed-Mohammad Fereshtehnejad and Johan Lökk
Healthcare 2025, 13(15), 1873; https://doi.org/10.3390/healthcare13151873 - 31 Jul 2025
Viewed by 46
Abstract
Background/Objectives: Neurodegenerative proteinopathies, such as Alzheimer’s disease (AD), Parkinson’s disease (PD), and dementia with Lewy bodies (DLB), are increasingly prevalent worldwide mainly due to population aging. These conditions are marked by complex etiologies, overlapping pathologies, and progressive clinical decline, with significant consequences [...] Read more.
Background/Objectives: Neurodegenerative proteinopathies, such as Alzheimer’s disease (AD), Parkinson’s disease (PD), and dementia with Lewy bodies (DLB), are increasingly prevalent worldwide mainly due to population aging. These conditions are marked by complex etiologies, overlapping pathologies, and progressive clinical decline, with significant consequences for patients, caregivers, and healthcare systems. This review aims to synthesize evidence on the healthcare complexities of major neurodegenerative proteinopathies to highlight current knowledge gaps, and to inform future care models, policies, and research directions. Methods: We conducted a comprehensive literature search in PubMed/MEDLINE using combinations of MeSH terms and keywords related to neurodegenerative diseases, proteinopathies, diagnosis, sex, management, treatment, caregiver burden, and healthcare delivery. Studies were included if they addressed the clinical, pathophysiological, economic, or care-related complexities of aging-related neurodegenerative proteinopathies. Results: Key themes identified include the following: (1) multifactorial and unclear etiologies with frequent co-pathologies; (2) long prodromal phases with emerging biomarkers; (3) lack of effective disease-modifying therapies; (4) progressive nature requiring ongoing and individualized care; (5) high caregiver burden; (6) escalating healthcare and societal costs; and (7) the critical role of multidisciplinary and multi-domain care models involving specialists, primary care, and allied health professionals. Conclusions: The complexity and cost of neurodegenerative proteinopathies highlight the urgent need for prevention-focused strategies, innovative care models, early interventions, and integrated policies that support patients and caregivers. Prevention through the early identification of risk factors and prodromal signs is critical. Investing in research to develop effective disease-modifying therapies and improve early detection will be essential to reducing the long-term burden of these disorders. Full article
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17 pages, 920 KiB  
Article
Enhancing Early GI Disease Detection with Spectral Visualization and Deep Learning
by Tsung-Jung Tsai, Kun-Hua Lee, Chu-Kuang Chou, Riya Karmakar, Arvind Mukundan, Tsung-Hsien Chen, Devansh Gupta, Gargi Ghosh, Tao-Yuan Liu and Hsiang-Chen Wang
Bioengineering 2025, 12(8), 828; https://doi.org/10.3390/bioengineering12080828 - 30 Jul 2025
Viewed by 218
Abstract
Timely and accurate diagnosis of gastrointestinal diseases (GIDs) remains a critical bottleneck in clinical endoscopy, particularly due to the limited contrast and sensitivity of conventional white light imaging (WLI) in detecting early-stage mucosal abnormalities. To overcome this, this research presents Spectrum Aided Vision [...] Read more.
Timely and accurate diagnosis of gastrointestinal diseases (GIDs) remains a critical bottleneck in clinical endoscopy, particularly due to the limited contrast and sensitivity of conventional white light imaging (WLI) in detecting early-stage mucosal abnormalities. To overcome this, this research presents Spectrum Aided Vision Enhancer (SAVE), an innovative, software-driven framework that transforms standard WLI into high-fidelity hyperspectral imaging (HSI) and simulated narrow-band imaging (NBI) without any hardware modification. SAVE leverages advanced spectral reconstruction techniques, including Macbeth Color Checker-based calibration, principal component analysis (PCA), and multivariate polynomial regression, achieving a root mean square error (RMSE) of 0.056 and structural similarity index (SSIM) exceeding 90%. Trained and validated on the Kvasir v2 dataset (n = 6490) using deep learning models like ResNet-50, ResNet-101, EfficientNet-B2, both EfficientNet-B5 and EfficientNetV2-B0 were used to assess diagnostic performance across six key GI conditions. Results demonstrated that SAVE enhanced imagery and consistently outperformed raw WLI across precision, recall, and F1-score metrics, with EfficientNet-B2 and EfficientNetV2-B0 achieving the highest classification accuracy. Notably, this performance gain was achieved without the need for specialized imaging hardware. These findings highlight SAVE as a transformative solution for augmenting GI diagnostics, with the potential to significantly improve early detection, streamline clinical workflows, and broaden access to advanced imaging especially in resource constrained settings. Full article
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13 pages, 1321 KiB  
Article
Lung Cancer with Isolated Pleural Dissemination as a Potential ctDNA Non-Shedding Tumor Type
by Huizhao Hong, Yingqian Zhang, Mengmeng Song, Xuan Gao, Wenfang Tang, Hongji Li, Shirong Cui, Song Dong, Yilong Wu, Wenzhao Zhong and Jiatao Zhang
Cancers 2025, 17(15), 2525; https://doi.org/10.3390/cancers17152525 - 30 Jul 2025
Viewed by 131
Abstract
Objectives: Circulating tumor DNA (ctDNA) has emerged as a reliable prognostic biomarker in both early- and late-stage non-small cell lung cancer (NSCLC) patients. However, its role in NSCLC with pleural dissemination (M1a), a subset of disease with indolent biology, remains to be elucidated. [...] Read more.
Objectives: Circulating tumor DNA (ctDNA) has emerged as a reliable prognostic biomarker in both early- and late-stage non-small cell lung cancer (NSCLC) patients. However, its role in NSCLC with pleural dissemination (M1a), a subset of disease with indolent biology, remains to be elucidated. Methods: We collected 41 M1a patients with serial ctDNA and CEA monitoring. Progression-free survival (PFS) was assessed between patients with different levels of ctDNA and CEA. An independent cohort of 61 M1a patients was included for validation. Results: At the diagnostic landmark, the detection rates for ctDNA and CEA were 22% and 55%, respectively. Among patients who experienced disease progression with pleural metastases, only ten had detectable ctDNA in longitudinal timepoints, resulting in a sensitivity of 50%. Moreover, there was no significant difference in PFS between patients with longitudinally detectable and undetectable ctDNA (HR: 0.86, 95% CI 0.33–2.23, p = 0.76). In contrast, patients with a decreasing CEA trend within 3 months after diagnosis were associated with an improved PFS (HR: 0.22; 95% CI, 0.03–1.48, p = 0.004). This finding is confirmed in an independent M1a patient cohort. Conclusions: Together, our findings suggest that M1a NSCLC with isolated pleural dissemination may represent a “non-shedding” tumor type, where ctDNA shows limited diagnostic and prognostic value. Monitoring early changes in CEA could be a more cost-effective predictor of disease progression. Full article
(This article belongs to the Special Issue Educating Recent Updates on Metastatic Non-small Cell Lung Cancer)
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13 pages, 1323 KiB  
Article
Genotypic and Phenotypic Characterization of Axonal Charcot–Marie–Tooth Disease in Childhood: Identification of One Novel and Four Known Mutations
by Rojan İpek, Büşra Eser Çavdartepe, Sevcan Tuğ Bozdoğan, Erman Altunışık, Akçahan Akalın, Mahmut Yaman, Alper Akın and Sefer Kumandaş
Genes 2025, 16(8), 917; https://doi.org/10.3390/genes16080917 - 30 Jul 2025
Viewed by 161
Abstract
Background: Charcot–Marie–Tooth disease (CMT) is a genetically and phenotypically heterogeneous hereditary neuropathy. Axonal CMT type 2 (CMT2) subtypes often exhibit overlapping clinical features, which makes molecular genetic analysis essential for accurate diagnosis and subtype differentiation. Methods: This retrospective study included five pediatric patients [...] Read more.
Background: Charcot–Marie–Tooth disease (CMT) is a genetically and phenotypically heterogeneous hereditary neuropathy. Axonal CMT type 2 (CMT2) subtypes often exhibit overlapping clinical features, which makes molecular genetic analysis essential for accurate diagnosis and subtype differentiation. Methods: This retrospective study included five pediatric patients who presented with gait disturbance, muscle weakness, and foot deformities and were subsequently diagnosed with axonal forms of CMT. Clinical data, electrophysiological studies, neuroimaging, and genetic analyses were evaluated. Whole exome sequencing (WES) was performed in three sporadic cases, while targeted CMT gene panel testing was used for two siblings. Variants were interpreted using ACMG guidelines, supported by public databases (ClinVar, HGMD, and VarSome), and confirmed by Sanger sequencing when available. Results: All had absent deep tendon reflexes and distal muscle weakness; three had intellectual disability. One patient was found to carry a novel homozygous frameshift variant (c.2568_2569del) in the IGHMBP2 gene, consistent with CMT2S. Other variants were identified in the NEFH (CMT2CC), DYNC1H1 (CMT2O), and MPV17 (CMT2EE) genes. Notably, a previously unreported co-occurrence of MPV17 mutation and congenital heart disease was observed in one case. Conclusions: This study expands the clinical and genetic spectrum of pediatric axonal CMT and highlights the role of early physical examination and molecular diagnostics in detecting rare variants. Identification of a novel IGHMBP2 variant and unique phenotypic associations provides new insights for future genotype–phenotype correlation studies. Full article
(This article belongs to the Special Issue Genetics of Neuromuscular and Metabolic Diseases)
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21 pages, 3471 KiB  
Review
Nanomedicine: The Effective Role of Nanomaterials in Healthcare from Diagnosis to Therapy
by Raisa Nazir Ahmed Kazi, Ibrahim W. Hasani, Doaa S. R. Khafaga, Samer Kabba, Mohd Farhan, Mohammad Aatif, Ghazala Muteeb and Yosri A. Fahim
Pharmaceutics 2025, 17(8), 987; https://doi.org/10.3390/pharmaceutics17080987 - 30 Jul 2025
Viewed by 106
Abstract
Nanotechnology is revolutionizing medicine by enabling highly precise diagnostics, targeted therapies, and personalized healthcare solutions. This review explores the multifaceted applications of nanotechnology across medical fields such as oncology and infectious disease control. Engineered nanoparticles (NPs), such as liposomes, polymeric carriers, and carbon-based [...] Read more.
Nanotechnology is revolutionizing medicine by enabling highly precise diagnostics, targeted therapies, and personalized healthcare solutions. This review explores the multifaceted applications of nanotechnology across medical fields such as oncology and infectious disease control. Engineered nanoparticles (NPs), such as liposomes, polymeric carriers, and carbon-based nanomaterials, enhance drug solubility, protect therapeutic agents from degradation, and enable site-specific delivery, thereby reducing toxicity to healthy tissues. In diagnostics, nanosensors and contrast agents provide ultra-sensitive detection of biomarkers, supporting early diagnosis and real-time monitoring. Nanotechnology also contributes to regenerative medicine, antimicrobial therapies, wearable devices, and theranostics, which integrate treatment and diagnosis into unified systems. Advanced innovations such as nanobots and smart nanosystems further extend these capabilities, enabling responsive drug delivery and minimally invasive interventions. Despite its immense potential, nanomedicine faces challenges, including biocompatibility, environmental safety, manufacturing scalability, and regulatory oversight. Addressing these issues is essential for clinical translation and public acceptance. In summary, nanotechnology offers transformative tools that are reshaping medical diagnostics, therapeutics, and disease prevention. Through continued research and interdisciplinary collaboration, it holds the potential to significantly enhance treatment outcomes, reduce healthcare costs, and usher in a new era of precise and personalized medicine. Full article
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22 pages, 12983 KiB  
Article
A Hybrid Model for Fluorescein Funduscopy Image Classification by Fusing Multi-Scale Context-Aware Features
by Yawen Wang, Chao Chen, Zhuo Chen and Lingling Wu
Technologies 2025, 13(8), 323; https://doi.org/10.3390/technologies13080323 (registering DOI) - 30 Jul 2025
Viewed by 84
Abstract
With the growing use of deep learning in medical image analysis, automated classification of fundus images is crucial for the early detection of fundus diseases. However, the complexity of fluorescein fundus angiography (FFA) images poses challenges in the accurate identification of lesions. To [...] Read more.
With the growing use of deep learning in medical image analysis, automated classification of fundus images is crucial for the early detection of fundus diseases. However, the complexity of fluorescein fundus angiography (FFA) images poses challenges in the accurate identification of lesions. To address these issues, we propose the Enhanced Feature Fusion ConvNeXt (EFF-ConvNeXt) model, a novel architecture combining VGG16 and an enhanced ConvNeXt for FFA image classification. VGG16 is employed to extract edge features, while an improved ConvNeXt incorporates the Context-Aware Feature Fusion (CAFF) strategy to enhance global contextual understanding. CAFF integrates an Improved Global Context (IGC) module with multi-scale feature fusion to jointly capture local and global features. Furthermore, an SKNet module is used in the final stages to adaptively recalibrate channel-wise features. The model demonstrates improved classification accuracy and robustness, achieving 92.50% accuracy and 92.30% F1 score on the APTOS2023 dataset—surpassing the baseline ConvNeXt-T by 3.12% in accuracy and 4.01% in F1 score. These results highlight the model’s ability to better recognize complex disease features, providing significant support for more accurate diagnosis of fundus diseases. Full article
(This article belongs to the Special Issue Application of Artificial Intelligence in Medical Image Analysis)
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16 pages, 1194 KiB  
Systematic Review
Artificial Intelligence in the Diagnosis of Tongue Cancer: A Systematic Review with Meta-Analysis
by Seorin Jeong, Hae-In Choi, Keon-Il Yang, Jin Soo Kim, Ji-Won Ryu and Hyun-Jeong Park
Biomedicines 2025, 13(8), 1849; https://doi.org/10.3390/biomedicines13081849 - 30 Jul 2025
Viewed by 176
Abstract
Background: Tongue squamous cell carcinoma (TSCC) is an aggressive oral malignancy characterized by early submucosal invasion and a high risk of cervical lymph node metastasis. Accurate and timely diagnosis is essential, but it remains challenging when relying solely on conventional imaging and [...] Read more.
Background: Tongue squamous cell carcinoma (TSCC) is an aggressive oral malignancy characterized by early submucosal invasion and a high risk of cervical lymph node metastasis. Accurate and timely diagnosis is essential, but it remains challenging when relying solely on conventional imaging and histopathology. This systematic review aimed to evaluate studies applying artificial intelligence (AI) in the diagnostic imaging of TSCC. Methods: This review was conducted under PRISMA 2020 guidelines and included studies from January 2020 to December 2024 that utilized AI in TSCC imaging. A total of 13 studies were included, employing AI models such as Convolutional Neural Networks (CNNs), Support Vector Machines (SVMs), and Random Forest (RF). Imaging modalities analyzed included MRI, CT, PET, ultrasound, histopathological whole-slide images (WSI), and endoscopic photographs. Results: Diagnostic performance was generally high, with area under the curve (AUC) values ranging from 0.717 to 0.991, sensitivity from 63.3% to 100%, and specificity from 70.0% to 96.7%. Several models demonstrated superior performance compared to expert clinicians, particularly in delineating tumor margins and estimating the depth of invasion (DOI). However, only one study conducted external validation, and most exhibited moderate risk of bias in patient selection or index test interpretation. Conclusions: AI-based diagnostic tools hold strong potential for enhancing TSCC detection, but future research must address external validation, standardization, and clinical integration to ensure their reliable and widespread adoption. Full article
(This article belongs to the Special Issue Recent Advances in Oral Medicine—2nd Edition)
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Review
Sport-Specific Risks of Osteochondritis Dissecans Across Athletic Disciplines: A Narrative Review
by Tomasz Poboży, Michał Derczyński and Wojciech Konarski
Healthcare 2025, 13(15), 1857; https://doi.org/10.3390/healthcare13151857 - 30 Jul 2025
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Abstract
Osteochondritis Dissecans (OCD) is a joint condition characterized by damage to the surface of the joint and the underlying subchondral bone, leading to early-onset osteoarthritis. It predominantly affects the knee, elbow, and ankle, with higher prevalence in juveniles actively participating in sports, which [...] Read more.
Osteochondritis Dissecans (OCD) is a joint condition characterized by damage to the surface of the joint and the underlying subchondral bone, leading to early-onset osteoarthritis. It predominantly affects the knee, elbow, and ankle, with higher prevalence in juveniles actively participating in sports, which complicates the condition due to slow healing processes and prolonged restrictions on physical activities. This review aims to summarize current knowledge on OCD in athletes, with emphasis on sport-specific risk factors, diagnosis, and treatment, to support clinical decision-making and future research. We conducted searches in the PubMed and Embase databases, covering the period from 2014 to 2024. The keywords used in the search covered most common sports in combination with term osteochondritis dissecans. This review examines the impacts of various sports on the development of OCD, analyzing prevalence and risk factors, with a focus on sports-specific risks across athletic disciplines like football, basketball, baseball, and gymnastics. The significance of early detection, intervention, and sport-specific conditioning is underscored to prevent the condition and manage it effectively. Moreover, the review highlights the positive prognosis for athletes, particularly adolescents, recovering from OCD, with a high rate of return to sport. Understanding the sports-specific risks, ensuring early intervention, and adopting a cautious, stepwise return to sport are critical for managing OCD effectively, thereby safeguarding the health and careers of athletes. Full article
(This article belongs to the Special Issue Dysfunctions or Approaches of the Musculoskeletal System)
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