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Diagnostics, Volume 15, Issue 21 (November-1 2025) – 156 articles

Cover Story (view full-size image): In prenatal diagnostics, timing is everything—but technique may matter even more. Drawing on a 15-year, single-operator prospective cohort of 5500 first-trimester procedures, we directly compared transcervical, transabdominal and transvaginal chorionic villus sampling (CVS). Transabdominal CVS achieved the best safety–diagnostic balance, with the lowest fetal loss (0.18%) and highest diagnostic yield. Doppler studies revealed no lasting vascular disruption, while long-term neurodevelopmental follow-up was reassuring. In fetuses with anomalies, targeted microarray revealed clinically significant copy number variations (CNVs) in one out of five cases. Consequently, this study reaffirms transabdominal CVS as the frontline standard in early fetal diagnostics. View this paper
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17 pages, 7540 KB  
Article
Non-Invasive Prediction of Microvessel Density in Pediatric Hepatoblastoma Using Contrast-Enhanced Ultrasound Quantitative Parameters
by Yazi You, Lirong Zhu, Hongli Zhai, Yuxin Tang, Jingyu Chen and Yi Tang
Diagnostics 2025, 15(21), 2819; https://doi.org/10.3390/diagnostics15212819 - 6 Nov 2025
Viewed by 478
Abstract
Background: The purpose of this study was to examine the relationship between qualitative characteristics and quantitative parameters from contrast-enhanced ultrasound (CEUS) and microvessel density (MVD) in hepatoblastoma (HB), as well as to investigate whether CEUS could be utilized as a non-invasive method [...] Read more.
Background: The purpose of this study was to examine the relationship between qualitative characteristics and quantitative parameters from contrast-enhanced ultrasound (CEUS) and microvessel density (MVD) in hepatoblastoma (HB), as well as to investigate whether CEUS could be utilized as a non-invasive method for predicting HB progression. Methods: This retrospective analysis was carried out in one medical center and included 34 children with histopathologically confirmed HB. Both grayscale ultrasound and CEUS results were reviewed. Lesions were evaluated using time–intensity curve (TIC) analysis software to extract quantitative parameters. Postoperative tissue specimens were stained with CD34 immunohistochemistry, and MVD was quantified as the reference standard. Statistical analyses were conducted to assess the correlation between CEUS findings and MVD. Results: Lesions were separated into high (n = 21, 61.76%; MVD ≥ 41) and low (n = 13, 38.24%; MVD < 41) MVD groups, using the median microvessel density of 41 vessels per high-power field (HPF) as the cutoff. High MVD lesions exhibited a significantly higher incidence of penetrating vessels compared with low MVD lesions (p < 0.05). Elevated MVD levels were significantly associated with increased Adler-grade blood flow (p < 0.05). Both TIC-derived and relative quantitative parameters exhibited significant intergroup differences. Among the relative parameters, the relative wash-out rate (rWoR) was significantly higher in the low MVD group (p < 0.05). Moreover, the Receiver Operating Characteristic (ROC) curve analysis indicated that an rWoR threshold of ≥1.36 could serve as a predictor for low MVD, resulting in 76.9% sensitivity and 81.0% specificity (AUC = 0.802; 95% CI: 0.634–0.970; p = 0.003). Conclusions: CEUS revealed an association with MVD, supporting its potential as a non-invasive tool to characterize tumor vascularity. Full article
(This article belongs to the Section Medical Imaging and Theranostics)
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15 pages, 867 KB  
Article
Diagnostic Stratification of Pancreatic Ductal Adenocarcinoma via Metallomics and Blood-Based Biomarkers
by Donatella Coradduzza, Teresa Perra, Leonardo Sibono, Andrea Sanna, Maurizio Cossu, Emanuela G. Azara, Francesco Petracca, Roberto Beniamino Madeddu, Maria Rosaria De Miglio, Ciriaco Carru, Massimiliano Grosso, Maria Laura Cossu and Serenella Medici
Diagnostics 2025, 15(21), 2818; https://doi.org/10.3390/diagnostics15212818 - 6 Nov 2025
Viewed by 498
Abstract
Background: Pancreatic ductal adenocarcinoma (PDAC) remains one of the deadliest cancers, largely due to late diagnosis and the lack of reliable non-invasive biomarkers. Altered trace element homeostasis has been implicated in tumor biology and systemic inflammation, but comprehensive metallomic profiling in PDAC is [...] Read more.
Background: Pancreatic ductal adenocarcinoma (PDAC) remains one of the deadliest cancers, largely due to late diagnosis and the lack of reliable non-invasive biomarkers. Altered trace element homeostasis has been implicated in tumor biology and systemic inflammation, but comprehensive metallomic profiling in PDAC is still limited. Methods: Using inductively coupled plasma mass spectrometry (ICP-MS), we quantified 20 serum and 15 urinary metals in 71 PDAC patients and 69 matched controls. Statistical analyses included univariate Wilcoxon testing, correlation with systemic inflammatory indices (NLR, MLR, SIRI, AISI, HGB/RDW, PCT), and multivariate chemometric modeling (PCA-LDA). K-means clustering was applied to identify patient subgroups with distinct biochemical signatures. Results: PDAC patients showed significantly elevated urinary antimony, chromium, cadmium, and vanadium, whereas controls exhibited higher serum selenium, zinc, barium, vanadium, and cobalt (all p < 10−5). The PCA-LDA model achieved 99% classification accuracy (Monte Carlo cross-validation, 1000 iterations), highlighting complementary diagnostic contributions of serum and urinary profiles. Serum selenium was inversely associated with SIRI and NLR, while urinary cobalt correlated positively with NLR. Clustering revealed three PDAC subgroups with different inflammatory and metallomic patterns, suggesting underlying biological heterogeneity. Conclusions: PDAC is characterized by opposite serum-urine metal signatures, indicating altered absorption-excretion dynamics. Selenium depletion may represent a protective biomarker, whereas urinary cobalt excretion reflects systemic inflammation. This integrative ICP-MS–chemometric approach provides a promising diagnostic tool for improving early detection and patient stratification in clinical practice. Full article
(This article belongs to the Special Issue Biochemical Testing Applications in Clinical Diagnosis)
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12 pages, 986 KB  
Article
Arterial Enhancement Fraction-Spectral CT-Based Model as Part of Prediction Model in BRAFV600E-Positive Papillary Thyroid Carcinoma
by Bi Zhou, Liang Lv, Ya Zou, Zuhua Song, Jiayi Yu, Xiaodi Zhang and Dan Zhang
Diagnostics 2025, 15(21), 2817; https://doi.org/10.3390/diagnostics15212817 - 6 Nov 2025
Cited by 1 | Viewed by 469
Abstract
Objectives: The BRAFV600E is the most common oncogene in thyroid cancer and is associated with the aggressiveness of papillary thyroid carcinoma (PTC). The aim of this study was to investigate the effectiveness of the arterial enhancement fraction (AEF) and dual-layer detector [...] Read more.
Objectives: The BRAFV600E is the most common oncogene in thyroid cancer and is associated with the aggressiveness of papillary thyroid carcinoma (PTC). The aim of this study was to investigate the effectiveness of the arterial enhancement fraction (AEF) and dual-layer detector spectral computed tomography (DLCT) parameters for predicting the BRAFV600E mutation in PTC. Methods: A total of 237 patients with PTC who underwent DLCT and BRAFV600E mutation detection (mutant group: n = 187; wild group: n = 50) were retrospectively reviewed. The receiver operating characteristic curves evaluated the effectiveness of the prediction models based on the significantly different variables using logistic regression analysis. The nomogram of the prediction model with the highest AUC in the validation cohort was constructed. Results: The AUCs of the DLCT+ Hashimoto’s thyroiditis (HT) and AEF + DLCT + HT prediction models were 0.901 and 0.896, respectively, in the training cohort and 0.801 and 0.853 in the validation cohort. The calibration curve revealed the good agreement between the prediction results and the actual observations using the AEF + DLCT + HT model. The DCA demonstrated that the model can provide net benefit for all threshold probabilities. Conclusions: As an effective and visually noninvasive prediction tool, the AEF + DLCT + HT-based nomogram presented satisfactory effectiveness in preoperatively predicting the BRAFV600E mutation in PTC. Full article
(This article belongs to the Section Medical Imaging and Theranostics)
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11 pages, 251 KB  
Article
Serum LEAP-2 as a Potential Biomarker for Hepatic Steatosis in Adolescents with Obesity and MASLD: A Cross-Sectional Study
by Sevim Çakar, Nur Arslan, Mehmet Ateş, Oya Sayın, Oğuzhan Akyaz, Tuğçe Tatar Arık, Rabia Ilgın and Nilay Danış
Diagnostics 2025, 15(21), 2816; https://doi.org/10.3390/diagnostics15212816 - 6 Nov 2025
Viewed by 599
Abstract
Background/Objectives: Metabolic dysfunction-associated steatotic liver disease (MASLD) is becoming more common among adolescents, but non-invasive biomarkers for early detection are still limited. Liver-expressed antimicrobial peptide-2 (LEAP-2), a ghrelin receptor antagonist, has been connected to obesity and liver fat buildup in adults, but pediatric [...] Read more.
Background/Objectives: Metabolic dysfunction-associated steatotic liver disease (MASLD) is becoming more common among adolescents, but non-invasive biomarkers for early detection are still limited. Liver-expressed antimicrobial peptide-2 (LEAP-2), a ghrelin receptor antagonist, has been connected to obesity and liver fat buildup in adults, but pediatric data are limited. This study investigates the hypothesis that higher levels of LEAP-2 are associated with hepatic steatosis and the role of LEAP-2 serum levels in the earlier and easier diagnosis of MASLD in children. Methods: In this cross-sectional study, 51 adolescents aged 12–18 were divided into three groups: one with MASLD and obesity (MASLD-Ob) (confirmed hepatosteatosis by imaging studies such as magnetic resonance or ultrasound, along with at least one cardiometabolic criterion and a body mass index (BMI) > 2 SD) (n = 19), another with obesity without any liver pathology or MASLD (BMI > 2 SD) (n = 14), and healthy controls (n = 18). The controlled attenuation parameter (CAP) was measured using FibroScan® Mini + 430 (Echosens SA, Créteil, France), and serum ghrelin and LEAP-2 levels were determined via ELISA. Correlations between LEAP-2, ghrelin, CAP, BMI z-score, and metabolic parameters were analyzed. Results: LEAP-2 and ghrelin levels among the three groups were similar (p = 0.148, p = 0.515). A positive correlation was observed between LEAP-2 levels and CAP values in the obese group (both the MASLD-Ob and obesity groups) (r = 0.379, p = 0.030). When a cutoff of 240 dB/m was used, the median LEAP-2 level in cases above this value was 2.20 ng/mL, compared to 1.37 ng/mL in cases below it (p = 0.021), which was significantly different. When analyzing the obese group (both the MASLD-Ob and obese groups) a statistically significant correlation was found between serum LEAP-2 levels and CAP, AST, GGT, and total bilirubin values (r = 0.379, p = 0.030; r = 0.369, p = 0.035; r = 0.369, p = 0.035; r = 0.357, p = 0.049, respectively). Conclusions: Interventional imaging methods and biomarkers for diagnosing and monitoring hepatosteatosis have become well-established in the literature. However, since these tests are not available at all centers and can be costly, there is an increasing search for other easily accessible diagnostic and follow-up parameters. LEAP-2 could be a promising non-invasive biomarker for pediatric MASLD, especially when used alongside CAP measurements. The application of this biomarker in pediatric MASLD provides valuable data to help identify and monitor the condition in adolescents. We believe our study offers strong evidence to support further research and the development of drug treatments for MASLD that aim to reduce plasma LEAP-2. Full article
(This article belongs to the Special Issue Clinical Diagnosis and Prognosis of Steatotic Liver Disease)
21 pages, 1108 KB  
Article
Sleep Trajectories in Amnestic and Non-Amnestic MCI: Longitudinal Insights from Subjective and Objective Assessments
by Areti Batzikosta, Despina Moraitou, Paschalis Steiropoulos, Elvira Masoura, Georgia Papantoniou, Ioanna-Giannoula Katsouri, Maria Sofologi, Glykeria Tsentidou and Magda Tsolaki
Diagnostics 2025, 15(21), 2815; https://doi.org/10.3390/diagnostics15212815 - 6 Nov 2025
Viewed by 612
Abstract
Background/Objectives: Sleep disturbances are increasingly recognized as dynamic biomarkers of cognitive decline; however, longitudinal and multimodal studies directly comparing amnestic (aMCI) and non-amnestic mild cognitive impairment (naMCI) remain limited. Methods: In a three-wave longitudinal design (~24 months), 179 older adults (46 healthy controls [...] Read more.
Background/Objectives: Sleep disturbances are increasingly recognized as dynamic biomarkers of cognitive decline; however, longitudinal and multimodal studies directly comparing amnestic (aMCI) and non-amnestic mild cognitive impairment (naMCI) remain limited. Methods: In a three-wave longitudinal design (~24 months), 179 older adults (46 healthy controls [HCs], 75 aMCI, 58 naMCI; mean age = 70.2 years, education = 12.3 years) were assessed with actigraphy and validated questionnaires (Athens Insomnia Scale, Pittsburgh Sleep Quality Index, STOP-BANG). Mixed ANOVAs and structural equation modeling tested group, time and mediation effects. Results: Subjective measures revealed a progressive worsening of insomnia and sleep quality in MCI, with naMCI exhibiting the steepest decline, while HCs remained largely stable. STOP-BANG trajectories indicated increasing sleep-disordered breathing risk across groups, most pronounced in naMCI. Objective indices corroborated these findings: total sleep time (TST) and sleep efficiency (SE) declined significantly in MCI, especially naMCI, while wake after sleep onset (WASO) increased longitudinally. By the third assessment, naMCI consistently showed the shortest TST and lowest SE. Mediation analyses identified SE as a central predictor of future subjective complaints, with indirect contributions from WASO and PSQI. Conclusions: Longitudinal trajectories, rather than cross-sectional comparisons, best differentiated MCI subtypes. NaMCI demonstrated the most aggressive deterioration in both objective and subjective sleep measures, highlighting its heightened vulnerability to sleep dysregulation and potential relevance for neurodegenerative progression. Clinically, sustained monitoring of SE, TST, and sleep-disordered breathing risk may provide prognostic value and inform early, targeted interventions in at-risk populations. Full article
(This article belongs to the Section Clinical Diagnosis and Prognosis)
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4 pages, 839 KB  
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Interventricular Septum Diverticulum: A Multimodality Imaging Approach to Diagnosis
by Romain Van der Linden, Mohamed El Mallouli, Chirine Liu, Maxime Goldfinger and Georgiana Pintea Bentea
Diagnostics 2025, 15(21), 2814; https://doi.org/10.3390/diagnostics15212814 - 6 Nov 2025
Viewed by 332
Abstract
We report the case of a 57-year-old female smoker who presented to the cardiology department with atypical chest pain. The transthoracic echocardiography revealed an interventricular septal diverticulum. To further characterize this finding, additional investigations were performed, including coronary CT angiography, cardiac magnetic resonance [...] Read more.
We report the case of a 57-year-old female smoker who presented to the cardiology department with atypical chest pain. The transthoracic echocardiography revealed an interventricular septal diverticulum. To further characterize this finding, additional investigations were performed, including coronary CT angiography, cardiac magnetic resonance imaging, and coronary angiography. These examinations excluded the presence of an aneurysm, pseudoaneurysm, or ventricular septal defect, and confirmed the diagnosis of a congenital interventricular septal diverticulum. Following multidisciplinary cardiology and surgical team discussion, a conservative management approach was adopted. Left ventricle outpouching are rare cardiac malformations. Differentiating between diverticulum, aneurysm, and pseudoaneurysm using multimodal imaging is crucial for clinical follow-up and prognosis. Full article
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20 pages, 1571 KB  
Review
The Role of Video Capsule Endoscopy in Hereditary Polyposis Syndromes: A Narrative Review
by Magdalini Manti, Faidon-Marios Laskaratos, Andrew Latchford, Kevin Monahan, Owen Epstein and Adam Humphries
Diagnostics 2025, 15(21), 2813; https://doi.org/10.3390/diagnostics15212813 - 6 Nov 2025
Viewed by 722
Abstract
Video Capsule Endoscopycapsule endoscopy (VCE) has emerged as a minimally invasive diagnostic tool for detecting and monitoring small bowel involvement in polyposis syndromes. VCE is included in the surveillance guidelines of Peutz-Jeghers syndrome. In the remaining familial polyposis syndromes, VCE may facilitate the [...] Read more.
Video Capsule Endoscopycapsule endoscopy (VCE) has emerged as a minimally invasive diagnostic tool for detecting and monitoring small bowel involvement in polyposis syndromes. VCE is included in the surveillance guidelines of Peutz-Jeghers syndrome. In the remaining familial polyposis syndromes, VCE may facilitate the early detection of polyps, when indicated, particularly in areas beyond the reach of conventional endoscopy, thereby aiding timely detection. Colon capsule endoscopy has been studied in symptomatic, screening and polyp surveillance populations and the second-generation colon capsule has demonstrated excellent detection rates for advanced neoplasia, however its role in colonic polyposis requires further research. The role of the panenteric capsule has not been explored in polyposis syndromes as a panintestinal examination. Despite its advantages, VCE has notable limitations; it may miss small, flat, or hidden lesions and lacks the capability for tissue sampling or therapeutic intervention. In the future, advances in imaging technology, extended battery life, and the integration of artificial intelligence (AI) are expected to further enhance the utility of VCE. Our review aims to focus on the applications of VCE in polyposis syndromes and future perspectives. Full article
(This article belongs to the Special Issue Clinical Impacts and Challenges in Capsule Endoscopy)
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13 pages, 874 KB  
Article
Screening Beyond Dependence: At-Risk Drinking and Psychosocial Correlates in the Heart Transplant Population
by Alexandra Assabiny, Zsófia Ocsovszky, Blanka Ehrenberger, Orsolya Papp-Zipernovszky, József Otohal, Kamilla Marjai, József Rácz, Béla Merkely and Beáta Dávid
Diagnostics 2025, 15(21), 2812; https://doi.org/10.3390/diagnostics15212812 - 6 Nov 2025
Viewed by 492
Abstract
Background/Objectives: Psychosocial factors (e.g., adherence, substance use) contribute to increased morbidity and mortality after heart transplantation. We investigated alcohol consumption patterns and their associations with psychosocial factors in adults, who underwent heart transplantation surgery (HTX recipients). Methods: Our cross-sectional study was [...] Read more.
Background/Objectives: Psychosocial factors (e.g., adherence, substance use) contribute to increased morbidity and mortality after heart transplantation. We investigated alcohol consumption patterns and their associations with psychosocial factors in adults, who underwent heart transplantation surgery (HTX recipients). Methods: Our cross-sectional study was conducted at the Semmelweis University Heart and Vascular Centre between 2023 and 2025. In total, 201 HTX recipients (75.6% male, mean age: 56.33 ± 11.46 years) completed the Alcohol Use Disorders Identification Test (AUDIT), Brief Health Literacy Screening Tool (BRIEF), Medication Adherence Report Scale (MARS-5) modified to immunosuppressive medication, and 9-item Beck Depression Inventory (BDI-9). Statistical analysis included Pearson’s correlation tests and Multivariate Regression Analyses. Results: The AUDIT had a higher proportion of non-evaluable responses than other questionnaires (AUDIT 19.9% vs. 5.5–9%), with 41.0% of the participants abstinent, 54.7% low-risk, 4.3% medium-risk, and 6.5% at-risk drinkers. AUDIT correlated negatively with MARS-5 (r = −0.326; p = 0.000) and positively with BDI-9 (r = 0.208; p = 0.010). At-risk drinking was associated with a lower MARS-5 (r = −0.231; p = 0.002). Multivariate regression models significantly predicted the AUDIT (F = 5.106; p < 0.001, R2 = 0.216) and AUDIT-C (F = 3.804; p = 0.002; R2 = 0.146), with sex and adherence as independent predictors. Conclusions: The high proportion of non-evaluable AUDIT responses suggests limitations in multi-questionnaire use but does not diminish its clinical relevance. The presence of 6.5% at-risk and 4.3% medium-risk drinkers highlights the relevance of consumption pattern screening, beyond diagnosing alcohol use disorder. Associations between AUDIT, MARS-5, and BDI-9 emphasize the necessity for multidisciplinary care. Full article
(This article belongs to the Section Clinical Diagnosis and Prognosis)
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12 pages, 8150 KB  
Case Report
Management of Gastric Fistulas After Gastric Sleeve Using E-VAC Therapy
by Bogdan Mihnea Ciuntu, Alexandra-Simona Zamfir, Mădălina Maxim, Carmen Lăcrămioara Zamfir, Roxana Elena Ciuntu, Mihai Lucian Zabara, Irina Mihaela Abdulan, Mihaela Corlade-Andrei, Daniel Vasile Timofte and Gheorghe G. Balan
Diagnostics 2025, 15(21), 2811; https://doi.org/10.3390/diagnostics15212811 - 6 Nov 2025
Viewed by 528
Abstract
Background and Clinical Significance: Sleeve gastrectomy is an effective and widely performed bariatric procedure that provides long-term, sustained weight loss, but it carries risks of early and late complications. Among these, gastric fistula is a rare occurrence associated with an increased mortality rate [...] Read more.
Background and Clinical Significance: Sleeve gastrectomy is an effective and widely performed bariatric procedure that provides long-term, sustained weight loss, but it carries risks of early and late complications. Among these, gastric fistula is a rare occurrence associated with an increased mortality rate and must be carefully considered to ensure timely diagnosis and appropriate management. Case Presentation: We will present the complex case of a patient who was referred to the general surgery department due to severe abdominal pain, exertional dyspnea, nausea, fever and fatigue, symptoms that appeared one month after a robotic gastric sleeve. The investigations led to the diagnostic of high gastric fistula secondary to a gastric sleeve procedure. The patient underwent exploratory laparotomy with jejunostomy, peritoneal lavage, drainage, and endoscopic placement of an endoluminal vacuum assisted closure (E-VAC) system. Close clinical, laboratory, imaging, and endoscopic monitoring demonstrated progressive improvement, with complete resolution of the fistula achieved after seven weeks of E-VAC therapy. Conclusions: The particularity of this case lies in the occurrence of a delayed mechanical gastric suture dehiscence, with late diagnosis, managed using E-VAC. Even though rare, gastric fistulas represent a potentially life-threatening complication of sleeve gastrectomy. Early diagnosis and a multidisciplinary approach, which includes infection control, surgical intervention and minimally invasive techniques like E-VAC, are essential for effective management and favorable outcomes. Full article
(This article belongs to the Special Issue Advances in Diagnosis of Digestive Diseases)
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12 pages, 856 KB  
Case Report
Extracranial Extension of a Convexity Meningioma into the Temporal Fossa: A Rare Case Report and Literature Review
by Inesa Stonkutė, Dominykas Afanasjevas, Audra Janovskienė, Mindaugas Žukauskas, Darius Pranys and Albinas Gervickas
Diagnostics 2025, 15(21), 2810; https://doi.org/10.3390/diagnostics15212810 - 6 Nov 2025
Viewed by 499
Abstract
Background and Clinical Significance: Meningiomas are among the most common primary intracranial tumors, usually benign and slow-growing. Extracranial extension is exceptionally rare, particularly when arising from convexity meningiomas extending into the temporal fossa. Such cases pose unique diagnostic and therapeutic challenges due [...] Read more.
Background and Clinical Significance: Meningiomas are among the most common primary intracranial tumors, usually benign and slow-growing. Extracranial extension is exceptionally rare, particularly when arising from convexity meningiomas extending into the temporal fossa. Such cases pose unique diagnostic and therapeutic challenges due to their atypical growth patterns and anatomical complexity. Case Presentation: A 63-year-old woman previously treated for a right temporal convexity meningioma with subtotal resection and Gamma Knife radiosurgery demonstrated progressive extracranial tumor growth over five years, while the intracranial component remained stable. MRI revealed infiltration of the temporalis and lateral pterygoid muscles and erosion of the temporal bone. Due to extensive extracranial involvement and limited neurosurgical accessibility, resection was performed by a maxillofacial surgical team through a preauricular approach. Intraoperatively, the tumor was encapsulated but adherent to the deep temporal fascia and zygomatic arch. The temporal branch of the facial nerve was identified and preserved. Histopathology confirmed a meningothelial meningioma, WHO Grade I, with low proliferative activity (Ki-67 < 1%). Postoperative recovery was uneventful, with transient facial nerve weakness that resolved within weeks. Conclusions: This report adds to the limited literature describing temporal fossa involvement by convexity meningiomas and illustrates the value of collaboration between neurosurgical and maxillofacial teams. Regular MRI surveillance every 6–12 months is advised for early detection of recurrence. Full article
(This article belongs to the Section Clinical Diagnosis and Prognosis)
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11 pages, 2194 KB  
Article
Diagnostic Assessment of Maxillary Sinus Membrane Thickening Associated with Dental Implant Perforation Using Cone-Beam Computed Tomography: A Retrospective Cross-Sectional Pilot Study
by Narjesse Kemcha, María Andrés-Veiga, Dolores Hurtado-Celotti, Cristina Meniz-García, Tomás Beca-Campoy and Natalia Martínez-Rodríguez
Diagnostics 2025, 15(21), 2809; https://doi.org/10.3390/diagnostics15212809 - 6 Nov 2025
Viewed by 846
Abstract
Background/Objectives: Perforation of the maxillary sinus floor by dental implants is a complication that can occur during treatment in posterior sectors; however, its clinical and radiological consequences remain controversial. Therefore, this study aimed to use the diagnostic value of CBCT to determine [...] Read more.
Background/Objectives: Perforation of the maxillary sinus floor by dental implants is a complication that can occur during treatment in posterior sectors; however, its clinical and radiological consequences remain controversial. Therefore, this study aimed to use the diagnostic value of CBCT to determine the possible association between sinus floor-perforating implants and their clinical and/or radiological impact. Methods: A retrospective observational study was conducted on CBCT scans from 21 patients with implants protruding into the maxillary sinus. Morphometric analysis was performed to assess sinus membrane thickening (SMT) patterns, height, surface area and density and the presence of sinonasal symptoms. Statistical analysis was used to explore potential associations between SMT and variables such as implant protrusion length, number of perforating implants, age and gender. Results: SMT was observed in all patients, with a mean area of 11.1 ± 6.4 mm2 in panoramic sections. Most cases (85.7%) exhibited a circumferential SMT pattern. No statistically significant correlation was found between SMT and implant protrusion length, age or sex. Additionally, none of the patients reported sinonasal symptoms, and no clinical signs of sinusitis were detected during follow-up. Conclusions: Although sinus floor-perforating implants commonly induce SMT detectable on CBCT, this thickening appears largely asymptomatic and may not compromise patient well-being in the short term. Nevertheless, clinicians should monitor these cases radiographically to detect possible long-term complications. Full article
(This article belongs to the Special Issue Diagnosis and Management of Dental Medicine and Surgery, 2nd Edition)
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16 pages, 960 KB  
Article
Validation of a Dermatology-Focused Multimodal Large Language Model in Classification of Pigmented Skin Lesions
by Joshua Mijares, Neil Jairath, Andrew Zhang and Syril Keena T. Que
Diagnostics 2025, 15(21), 2808; https://doi.org/10.3390/diagnostics15212808 - 6 Nov 2025
Viewed by 815
Abstract
Background: Artificial intelligence (AI) has shown significant promise in augmenting diagnostic capabilities across medical specialties. Recent advancements in generative AI allow for synthesis and interpretation of complex clinical data including imaging and patient history to assess disease risk. Objective: To evaluate the diagnostic [...] Read more.
Background: Artificial intelligence (AI) has shown significant promise in augmenting diagnostic capabilities across medical specialties. Recent advancements in generative AI allow for synthesis and interpretation of complex clinical data including imaging and patient history to assess disease risk. Objective: To evaluate the diagnostic performance of a dermatology-trained multimodal large language model (DermFlow, Delaware, USA) in assessing malignancy risk of pigmented skin lesions. Methods: This retrospective study utilized data from 59 patients with 68 biopsy-proven pigmented skin lesions seen at Indiana University clinics from February 2023 to May 2025. De-identified patient histories and clinical images were input into DermFlow, and clinical images only were input into Claude Sonnet 4 (Claude) to generate differential diagnoses. Clinician pre-operative diagnoses were extracted from the clinical note. Assessments were compared to histopathologic diagnoses (gold standard). Results: Among 68 clinically concerning pigmented lesions, DermFlow achieved 47.1% top diagnosis accuracy and 92.6% any-diagnosis accuracy, with F1 = 0.948, sensitivity 93.9%, and specificity 89.5% (balanced accuracy 91.7%). Claude had 8.8% top diagnosis and 73.5% any-diagnosis accuracy, F1 = 0.816, sensitivity 81.6%, specificity 52.6% (balanced accuracy 67.1%). Clinicians achieved 38.2% top diagnosis and 72.1% any-diagnosis accuracy, F1 = 0.776, sensitivity 67.3%, specificity 84.2% (balanced accuracy 75.8%). DermFlow recommended biopsy in 95.6% of cases vs. 82.4% for Claude, with multiple pairwise differences favoring DermFlow (p < 0.05). Conclusions: DermFlow demonstrated comparable or superior diagnostic performance to clinicians and superior performance to Claude in evaluating pigmented skin lesions. Although additional data must be gathered to further validate the model in real clinical settings, these initial findings suggest potential utility for dermatology-trained AI models in clinical practice, particularly in settings with limited dermatologist availability. Full article
(This article belongs to the Special Issue AI in Dermatology)
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13 pages, 1340 KB  
Article
Neutrophil-to-Lymphocyte Ratio as Potential Marker of Outcome After Standard EVAR
by Adriana Toncelli, Federico Filippi, Francesco Andreoli, Giulia Colonna, Claudia Panzano, Roberto Silingardi, Claudio Desantis, Massimo Ruggiero, Maurizio Taurino and Pasqualino Sirignano
Diagnostics 2025, 15(21), 2807; https://doi.org/10.3390/diagnostics15212807 - 6 Nov 2025
Viewed by 438
Abstract
Introduction: The neutrophil–lymphocyte ratio (NLR) has proven to be an inexpensive and easily available inflammatory marker for cardiovascular disease. The aim of the present study is to evaluate a possible association between preoperative NLR value and endovascular aneurysm repair (EVAR) outcomes. Methods [...] Read more.
Introduction: The neutrophil–lymphocyte ratio (NLR) has proven to be an inexpensive and easily available inflammatory marker for cardiovascular disease. The aim of the present study is to evaluate a possible association between preoperative NLR value and endovascular aneurysm repair (EVAR) outcomes. Methods: A multicentric retrospective study of patients undergoing EVAR in elective setting between 2015 and 2023 was performed. Preoperative NLR was calculated by dividing the absolute neutrophil count by the absolute lymphocyte count, and a cut-off of 5 was used as threshold for the analysis. Primary outcomes (technical success, endograft occlusion, AAA-related reintervention, endoleaks, and mortality rates) were compared between the NLR < 5 and the NLR > 5 group. Kaplan–Meier survival analysis was employed to assess overall survival and the incidence of long-term complications. Results: The study initially considered 1360 patients. Eventually, 823 patients were included in the study, of whom 129 (15.7%) with NLR > 5. The latter group presented a higher AAA diameter (59.1 mm vs. 55, mm; p = 0.004). Technical success was obtained in 98,9% of all enrolled patients. NLR values were significantly associated with ASA class (p = 0.014), involvement of the iliac arteries (p = 0.023), duration of ICU stays (p < 0.001), and overall length of hospitalization (<0.001). At Kaplan–Meier analysis, patient with NLR > 5 showed a significant lower survival rates (p = 0.006), while no significant differences were found in terms of endograft occlusion (p = 0.45), AAA-related reintervention (p = 0.63), and endoleaks (p = 0.49). Conclusions: This study highlights the association between the NLR value and an elevated risk of long-term mortality, highlighting its role as an indicator of the patient’s overall clinical condition rather than immediate surgical outcomes. Focusing on this selected group of patients can improve postoperative care and reduce long-term complications. Full article
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27 pages, 1035 KB  
Review
The Usefulness of Basic Laboratory Analyses in Diagnostics of Inherited Metabolic Diseases in Children
by Patryk Lipiński and Anna Doroba
Diagnostics 2025, 15(21), 2806; https://doi.org/10.3390/diagnostics15212806 - 5 Nov 2025
Viewed by 752
Abstract
Pediatricians play a crucial role in the early diagnosis and management of inherited metabolic diseases (IMDs). The diagnosis of IMD is based on the principle of selective screening, often requiring highly specialized testing, including biochemical and molecular analyses. The aim of this comprehensive [...] Read more.
Pediatricians play a crucial role in the early diagnosis and management of inherited metabolic diseases (IMDs). The diagnosis of IMD is based on the principle of selective screening, often requiring highly specialized testing, including biochemical and molecular analyses. The aim of this comprehensive review was to provide pediatricians with the usefulness of basic laboratory analyses in diagnostic process of IMD. The abnormal results of basic laboratory analyses were thoroughly discussed in the context of clinical manifestations of IMDs. Easy-to-use algorithms were implemented to ensure an appropriate differential diagnosis. Full article
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16 pages, 1390 KB  
Article
Global Myocardial Wall Thickness in Transfusion-Dependent Thalassemia: A Cross-Sectional MRI Analysis
by Antonella Meloni, Laura Pistoia, Giuseppe Peritore, Michela Zerbini, Stefania Renne, Priscilla Fina, Antonino Vallone, Filomena Longo, Anna Spasiano, Zelia Borsellino, Valerio Cecinati, Giuseppe Messina, Elisabetta Corigliano, Vincenzo Positano, Andrea Barison and Alberto Clemente
Diagnostics 2025, 15(21), 2805; https://doi.org/10.3390/diagnostics15212805 - 5 Nov 2025
Viewed by 516
Abstract
Background: This retrospective cross-sectional study evaluated the association of the global wall thickness index (GTI), derived from cardiovascular magnetic resonance (CMR), with demographic, clinical, and imaging findings, as well as heart failure history in transfusion-dependent thalassemia (TDT) patients. Methods: We analyzed 1154 TDT [...] Read more.
Background: This retrospective cross-sectional study evaluated the association of the global wall thickness index (GTI), derived from cardiovascular magnetic resonance (CMR), with demographic, clinical, and imaging findings, as well as heart failure history in transfusion-dependent thalassemia (TDT) patients. Methods: We analyzed 1154 TDT patients (52.9% female, 37.46 ± 10.67 years) from the Extension-Myocardial Iron Overload in Thalassemia project and 167 healthy controls (54.5% female, 36.33 ± 15.78 years). The CMR protocol included the T2* technique for the assessment of iron overload, cine imaging for the assessment of left ventricular (LV) function and size, and late gadolinium enhancement (LGE) imaging for the detection of replacement myocardial fibrosis (in the subset of 366 patients who underwent contrast administration). GTI (in mm/m2) was calculated from LV mass and end-diastolic volume. Results: GTI discriminated TDT patients from controls better than the LV end-diastolic volume index. Among TDT patients, GTI was higher in males, in those with diabetes, and in those with severe myocardial iron overload (cardiac T2* < 10 ms), but was unrelated to age, hemoglobin and ferritin levels, splenectomy, hepatic and pancreatic T2* values, LV ejection fraction, and fibrosis. GTI showed a diagnostic performance comparable to global heart T2* and superior to LV ejection fraction in identifying patients with prior heart failure. Conclusions: GTI is elevated in TDT patients compared with healthy controls. Male sex and severe myocardial iron overload are key determinants of GTI in TDT. Increased GTI is linked to a history of heart failure, supporting its role as a complementary tool to conventional CMR indices. Full article
(This article belongs to the Special Issue Latest Advances and Prospects in Cardiovascular Imaging)
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22 pages, 727 KB  
Review
Margin Matters: Advances in Intraoperative Margin Assessment for Breast-Conserving Surgery
by Valentin Ivanov, Usman Khalid and Rosen Dimov
Diagnostics 2025, 15(21), 2804; https://doi.org/10.3390/diagnostics15212804 - 5 Nov 2025
Viewed by 806
Abstract
Background/Objectives: Breast cancer is the most prevalent neoplasm in women. Improved screening and systemic therapies have allowed more patients to choose breast-conserving surgery over mastectomy. However, preserving glandular tissue while achieving negative margins remains difficult. Traditional intraoperative margin assessment techniques like frozen [...] Read more.
Background/Objectives: Breast cancer is the most prevalent neoplasm in women. Improved screening and systemic therapies have allowed more patients to choose breast-conserving surgery over mastectomy. However, preserving glandular tissue while achieving negative margins remains difficult. Traditional intraoperative margin assessment techniques like frozen section analysis, cavity shave margins, intraoperative ultrasonography, and specimen radiography aim to reduce positive margins and re-excision rates but face several limitations, including time consumption, interpretive challenges, and operator dependency. Our aim was to critically evaluate both conventional and emerging intraoperative margin assessment techniques in breast-conserving surgery, highlighting their clinical utility, limitations, and potential to reduce re-excision rates and improve patient outcomes. Methods: We assessed PubMed and Google Scholar databases using search terms such as specimen radiography, intraoperative ultrasonography, mass spectrometry, optical coherence tomography, artificial intelligence, and others. Studies were selected based on relevance, language, and completeness, and refined through author consensus. Conclusions: Conventional techniques have demonstrated value in reducing re-excisions and preserving cosmetic outcomes. Emerging tools like MarginProbe, fluorescence imaging, mass spectrometry (MasSpec Pen, iKnife), OCT, and AI-enhanced imaging show promise in offering real-time feedback and higher diagnostic accuracy. However, high costs, training needs, and data variability limit their widespread adoption. Investment in standardised protocols and multicentre trials is essential. Integration of imaging, spectroscopy, and AI may offer the most robust framework for improving surgical outcomes and quality of life for breast cancer patients. Full article
(This article belongs to the Section Clinical Diagnosis and Prognosis)
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14 pages, 1805 KB  
Article
Evaluating the Effectiveness of Gravity-Assisted Ankle Stress AP Imaging in Detecting Syndesmosis Injuries: A Retrospective Clinical Study
by Bahattin Kemah, Elif Reyyan Çadırcıbaşı, Muhsin Yıldız and Mehmet Salih Söylemez
Diagnostics 2025, 15(21), 2803; https://doi.org/10.3390/diagnostics15212803 - 5 Nov 2025
Viewed by 471
Abstract
Background: While gravity-assisted ankle stress AP (GAASA) images have proven effective in evaluating deep deltoid ligament injuries, their efficacy in assessing syndesmosis injuries remains unclear. We aimed to investigate the diagnostic performance of GAASA images in detecting syndesmosis injuries. Methods: This study reviewed [...] Read more.
Background: While gravity-assisted ankle stress AP (GAASA) images have proven effective in evaluating deep deltoid ligament injuries, their efficacy in assessing syndesmosis injuries remains unclear. We aimed to investigate the diagnostic performance of GAASA images in detecting syndesmosis injuries. Methods: This study reviewed records of patients aged 16+ with unilateral ankle fractures in a single-center ER from 2022 to 2023. Three orthopedic surgeons evaluated standard AP and lateral X-rays, ankle mortise, and GAASA and bilateral ankle CT images in blinded sessions for syndesmosis injuries. Evaluations were repeated to assess the inter- and intra-rater reliability. Results: A total of 121 patients with suspected syndesmosis injuries were included in this study. The average age of the patients was 49.9 ± 16.6 years. Syndesmosis injuries were present in 32.2% of cases. The inter-observer reliability was the highest for GAASA images (κ = 0.701) and mortise radiographs (κ = 0.735), and lowest for CT images (κ = 0.426). GAASA images had a sensitivity of 82% and specificity of 68%. Mortise images had 55% sensitivity and 81% specificity. GAASA images showed better discriminatory power for syndesmosis injuries compared to mortise and CT images. Conclusions: GAASA images demonstrated superior sensitivity and better negative predictive values in detecting syndesmosis injuries compared to mortise radiographs and CT images. While GAASA may serve as a useful adjunct for evaluating syndesmosis injuries, its interpretation requires careful clinical correlation, and it should not be considered a replacement for standard imaging in all cases. GAASA may be of particular value in emergency or resource-limited settings where CT is not readily available, offering a practical option for ruling out injury in many patients. Full article
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11 pages, 1353 KB  
Article
Cranial Morphological Patterns Based on Cranial Index and Petrous Ridge–Midline Angle in Koreans: Implications for Clinical and Forensic Applications
by Digud Kim, Jeonghyun Park, Jaeho Cho, Yu-Jin Choi, Hyung-Wook Kwon, Yunil Choe, Sookyoung Lee and Kwang-Rak Park
Diagnostics 2025, 15(21), 2802; https://doi.org/10.3390/diagnostics15212802 - 5 Nov 2025
Viewed by 413
Abstract
Background: The human skull has a very complex and diverse structure, and morphological characteristics vary by population. The purpose of this study is to comprehensively analyze the cranial morphology using postmortem computed tomography (PMCT), and to identify anatomical characteristics through a multifaceted approach [...] Read more.
Background: The human skull has a very complex and diverse structure, and morphological characteristics vary by population. The purpose of this study is to comprehensively analyze the cranial morphology using postmortem computed tomography (PMCT), and to identify anatomical characteristics through a multifaceted approach in Koreans. Methods: 358 PMCT cross-sectional images (179 males, 179 females) provided by the National Forensic Service were analyzed, and the average age was 55.1 ± 18.9 years. The maximum cranial length was divided by the maximum cranial width and multiplied by 100 to calculate the cranial index (CI). Petrous ridge–midline angle (PMA) was measured as the angle between the petrous ridge and the midline. Results: In both the classification of skull shape using CI and PMA, the brachycranic type showed the highest frequency (p < 0.001). Classified by CI, there were no significant differences in frequency by sex (p = 0.533), or age (p = 0.110). However, classified by PMA, the frequency of the brachycranic type in men was significantly higher than in women (p = 0.022), and there was a significant difference in the frequency of cranial morphology by age (p < 0.001). Conclusions: The results of cranial morphology classification targeting Koreans are expected to provide useful basic data for clinical and forensic use. Full article
(This article belongs to the Special Issue Clinical Anatomy and Diagnosis in 2025)
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18 pages, 709 KB  
Article
Machine Learning Models for Point-of-Care Diagnostics of Acute Kidney Injury
by Chun-You Chen, Te-I Chang, Cheng-Hsien Chen, Shih-Chang Hsu, Yen-Ling Chu, Nai-Jen Huang, Yuh-Mou Sue, Tso-Hsiao Chen, Feng-Yen Lin, Chun-Ming Shih, Po-Hsun Huang, Hui-Ling Hsieh and Chung-Te Liu
Diagnostics 2025, 15(21), 2801; https://doi.org/10.3390/diagnostics15212801 - 5 Nov 2025
Viewed by 489
Abstract
Background/Objectives: Computerized diagnostic algorithms could achieve early detection of acute kidney injury (AKI) only with available baseline serum creatinine (SCr). To tackle this weakness, we tried to construct a machine learning model for AKI diagnosis based on point-of-care clinical features regardless of baseline [...] Read more.
Background/Objectives: Computerized diagnostic algorithms could achieve early detection of acute kidney injury (AKI) only with available baseline serum creatinine (SCr). To tackle this weakness, we tried to construct a machine learning model for AKI diagnosis based on point-of-care clinical features regardless of baseline SCr. Methods: Patients with SCr > 1.3 mg/dL were recruited retrospectively from Wan Fang Hospital, Taipei. A Dataset A (n = 2846) was used as the training dataset and a Dataset B (n = 1331) was used as the testing dataset. Point-of-care features, including laboratory data and physical readings, were inputted into machine learning models. The repeated machine learning models randomly used 70% and 30% of Dataset A as training dataset and testing dataset for 1000 rounds, respectively. The single machine learning models used Dataset A as training dataset and Dataset B as testing dataset. A computerized algorithm for AKI diagnosis based on 1.5× increase in SCr and clinician’s AKI diagnosis compared to machine learning models. Results: On an independent, unbalanced test set (n = 1331), our machine learning models achieved AUROC values ranging from 0.67 to 0.74. A pre-existing computerized algorithm performed best (AUROC = 0.94). Crucially, all machine learning models significantly outperformed the routine clinician’s diagnosis (AUROC ~0.74 vs. 0.53, p < 0.05). For context, a pre-existing computerized algorithm, which requires available baseline SCr data, achieved an AUROC of 0.94 on a relevant subset of the data, highlighting the performance benchmark when baseline data is available. Formal statistical comparisons revealed that the top-performing models (e.g., Random Forest, SVM) were often statistically indistinguishable. Model performance was highly dependent on the test scenario, with precision and F1 scores improving markedly on a balanced dataset. Conclusions: In the absence of baseline SCr, machine learning models can diagnose AKI with significantly greater accuracy than routine clinical diagnoses. Our robust statistical analysis suggests that several advanced algorithms achieve a similarly high level of performance. Full article
(This article belongs to the Section Machine Learning and Artificial Intelligence in Diagnostics)
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11 pages, 985 KB  
Article
Prevalence of the Sphenoidal Emissary Foramen in a Chilean Osteological Sample: Anatomical and Surgical Implications
by Juan José Valenzuela Fuenzalida, Catalina Alcaíno Adasme, Trinidad Soublette Tocornal, Felipe Alvial-Ahumada, Macarena Perez Gutierrez, Alejandro Bruna-Mejias, Mathias Orellana-Donoso, Pablo Nova-Baeza, Alejandra Suazo-Santibañez, Hector Gutierrez-Espinoza, Juan Sanchis-Gimeno, Maria Piagkou, George Triantafyllou, Alexandros Samolis and José E. León-Rojas
Diagnostics 2025, 15(21), 2800; https://doi.org/10.3390/diagnostics15212800 - 5 Nov 2025
Viewed by 412
Abstract
Background: The sphenoidal emissary foramen (SEF) is an inconstant foramen of the sphenoid bone that facilitates venous communication between the pterygoid venous plexus and the cavernous sinus. Understanding its prevalence and laterality is crucial to preventing vascular injury during skull base procedures. Methods: [...] Read more.
Background: The sphenoidal emissary foramen (SEF) is an inconstant foramen of the sphenoid bone that facilitates venous communication between the pterygoid venous plexus and the cavernous sinus. Understanding its prevalence and laterality is crucial to preventing vascular injury during skull base procedures. Methods: A cross-sectional observational study was conducted on 133 adult Chilean dried skulls. Each specimen was examined both internally and externally to record SEF presence and laterality. Three independent observers performed the assessments under direct lighting, achieving excellent interobserver agreement (κ = 0.87, 95% CI = 0.81–0.92). Descriptive statistics, Chi-square tests, and Cramer’s V coefficients were calculated to evaluate side dominance and effect size at a significance level of p < 0.05. Results: The SEF was present in 40.17%. Bilateral foramina were observed in 26.79%, and unilateral SEF in 13.38%. Left-sided SEF (9.12%) was more common than right-sided SEF (4.26%), showing a significant difference (p = 0.03; Cramer’s V = 0.19, 95% CI = 0.02–0.33). This mild but significant left-sided prevalence indicates slight directional asymmetry rather than functional lateralization. Conclusions: The Chilean prevalence of the SEF lies within the mid-range of international data and closely aligns with Brazilian osteological reports. Although a minor left-sided predominance was observed, the effect size was weak (Cramer’s V = 0.19), reinforcing the interpretation of the SEF as a normal morphological variability rather than a true anatomical variant. Precise preoperative identification of the SEF is crucial to reduce the risk of venous injury and avoid unintentional penetration. Full article
(This article belongs to the Section Clinical Diagnosis and Prognosis)
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13 pages, 665 KB  
Article
Comparison of Preoperative Magnetic Resonance Imaging and Intraoperative Frozen Section Analysis with Final Pathological Outcomes in the Assessment of Myometrial Invasion in Endometrial Cancer Cases
by Tuba Metin Çakır, Fatma Ceren Güner, Elif Iltar, Can Dinç, Ömer Faruk Öz and Tayup Şimşek
Diagnostics 2025, 15(21), 2799; https://doi.org/10.3390/diagnostics15212799 - 5 Nov 2025
Viewed by 456
Abstract
Background: The aim of this study is to compare the concordance of Preoperative Magnetic Resonance Imaging (MRI) and Intraoperative Frozen Section Analysis, widely used worldwide for Endometrial Cancer (EC), with final pathology results, to calculate their sensitivity and specificity, and to evaluate [...] Read more.
Background: The aim of this study is to compare the concordance of Preoperative Magnetic Resonance Imaging (MRI) and Intraoperative Frozen Section Analysis, widely used worldwide for Endometrial Cancer (EC), with final pathology results, to calculate their sensitivity and specificity, and to evaluate their diagnostic agreement with final pathology results. Positive predictive values for both MRI and frozen section analysis will also be calculated. Methods: In this retrospective cohort study, patients diagnosed with Endometrioid-Type Endometrial Cancer at the Gynecologic Oncology Surgery Department of Akdeniz University Hospital between January 2020 and December 2023 underwent preoperative MRI to assess the depth of myometrial invasion and intraoperative frozen section examination for surgical staging. The results of both methods were compared with the final pathology reports. Results: A total of 88 patients were included in the study. Patient ages ranged from 34 to 80 years, with a mean age of 57.57 years (SD: 9.65), predominantly in the middle-aged and older population. In the assessment of myometrial invasion depth, MRI demonstrated a sensitivity of 81.6% and a specificity of 88%, while frozen section analysis showed a sensitivity of 73.7% and a specificity of 98.0%. Conclusions: In our study, preoperative MRI demonstrated similar sensitivity and specificity to intraoperative frozen section analysis in determining the depth of myometrial invasion in cases of Endometrioid-Type Endometrial Cancer. Therefore, when intraoperative frozen section analysis is not available, MRI findings may assist surgical planning, particularly in centers where frozen section is limited. Full article
(This article belongs to the Special Issue Advances in Diagnosis and Management of Endometrial Diseases)
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9 pages, 11103 KB  
Interesting Images
Mandibular Brown Tumor as a Result of Secondary Hyperparathyroidism—Radiological and Clinical Pitfalls and Dilemmas
by Ömer Uranbey, Furkan Diri, Büşra Ekinci, Michał Gontarz, Piotr Kuropka, Maciej Dobrzyński and Kamil Nelke
Diagnostics 2025, 15(21), 2798; https://doi.org/10.3390/diagnostics15212798 - 5 Nov 2025
Viewed by 465
Abstract
Brown tumors (BTs) are rare osteolytic lesions that typically occur in association with primary or secondary hyperparathyroidism (PHP and SHP). Excessive secretion of parathyroid hormone induces increased bone resorption, resulting in lesions characterized by fibrosis, vascularization, and hemosiderin deposition. The most common sites [...] Read more.
Brown tumors (BTs) are rare osteolytic lesions that typically occur in association with primary or secondary hyperparathyroidism (PHP and SHP). Excessive secretion of parathyroid hormone induces increased bone resorption, resulting in lesions characterized by fibrosis, vascularization, and hemosiderin deposition. The most common sites include the jaws, ribs, pelvis, and long bones. Clinical manifestations may involve pain, swelling, or pathological fractures. We present the case of a mandibular BT in a 48-year-old female with chronic renal failure and secondary hyperparathyroidism. The patient exhibited progressive mandibular swelling with radiological features resembling an aggressive odontogenic or malignant lesion. Laboratory analysis confirmed markedly elevated parathyroid hormone levels, while scintigraphy demonstrated increased focal uptake in the mandible and ribs. Histopathological evaluation revealed multinucleated giant cells within a fibrous stroma, consistent with BT. Despite initiation of systemic endocrine therapy, the lesion continued to enlarge, necessitating complete surgical excision of the mandibular mass. This case underscores the diagnostic dilemmas of mandibular BT, which may closely mimic aggressive jaw pathologies. Importantly, while many BTs regress after systemic management of hyperparathyroidism, this case illustrates that surgical excision may be unavoidable in patients with unstable systemic status or progressive local disease. Comprehensive clinical, radiological, laboratory, and histopathological evaluation remains essential to ensure timely diagnosis and appropriate treatment. Full article
(This article belongs to the Section Clinical Diagnosis and Prognosis)
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8 pages, 701 KB  
Brief Report
Preliminary Evidence for a Western Blot Diagnosis of Satoyoshi Syndrome Using SH-SY5Y Neuroblastoma Cell Lysate as the Antigen Source
by José María Sevilla Avendaño, Carlos Garrido, Irene Rodríguez Clemente, Julián Solís-García del Pozo, Ulrich Stephani, Ricardo Martínez, Carlos de Cabo, Valentín Ceña and Javier Solera
Diagnostics 2025, 15(21), 2797; https://doi.org/10.3390/diagnostics15212797 - 5 Nov 2025
Viewed by 805
Abstract
Background/Objectives: Satoyoshi syndrome is a rare, autoimmune disorder currently diagnosed based on clinical criteria: painful muscle spasms, diarrhea, and alopecia. Two previous reports showed a specific immunoreactive band in three Satoyoshi syndrome patients using Western blot analysis, with brain homogenate as the [...] Read more.
Background/Objectives: Satoyoshi syndrome is a rare, autoimmune disorder currently diagnosed based on clinical criteria: painful muscle spasms, diarrhea, and alopecia. Two previous reports showed a specific immunoreactive band in three Satoyoshi syndrome patients using Western blot analysis, with brain homogenate as the antigen source. These findings could be the basis for a future diagnostic test. The aim of our study was to evaluate the efficacy of using SH-SY5Y cell lysate instead of brain homogenate for a potential laboratory test for Satoyoshi syndrome using the Western blot technique. Methods: Western blot analyses were conducted using brain homogenate, SH-SY5Y cell lysates, and differentiated SH-SY5Y cell lysates. Serum samples were obtained from three Satoyoshi syndrome patients, alongside control samples from thirty blood donors and six patients with other neurological conditions. Results: Sera from patients with Satoyoshi syndrome displayed a three-band pattern in the 70–100 kDa range. This pattern was reproducible across all tested antigen sources (brain homogenate, SH-SY5Y lysate, and differentiated SH-SY5Y lysate) but was not observed for the sera from the control groups. The bands were more visible when using either type of SH-SY5Y lysate compared to brain homogenate. No differences were found between the SH-SY5Y lysate and the differentiated SH-SY5Y lysate. Conclusions: Sera from our Satoyoshi syndrome patients showed a specific band pattern that could be used for a future evaluation of Satoyoshi syndrome using Western blot. The use of SH-SY5Y cell lysate vs. brain homogenate as an antigen source may improve visualization and reproducibility of the immunobands and be less costly. Full article
(This article belongs to the Special Issue Rare Diseases: Diagnosis and Management)
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14 pages, 2025 KB  
Article
Right or Left: Which Is the Right Radial Access for Liver Transarterial Chemoembolization?
by Francesco Giurazza, Fabio Corvino, Felice D’Antuono, Claudio Carrubba, Pietro Roccatagliata, Fortuna De Martino, Valentina Pirozzi Palmese, Tiziana Capussela and Raffaella Niola
Diagnostics 2025, 15(21), 2796; https://doi.org/10.3390/diagnostics15212796 - 5 Nov 2025
Viewed by 485
Abstract
Objectives: This study aims to report on radial access for transarterial chemoembolization (TACE), comparing right and left accesses in terms of technical effectiveness, safety, operator radiation exposure, and procedural comfort. Methods: In a single-center prospective design, patients were randomized into two groups according [...] Read more.
Objectives: This study aims to report on radial access for transarterial chemoembolization (TACE), comparing right and left accesses in terms of technical effectiveness, safety, operator radiation exposure, and procedural comfort. Methods: In a single-center prospective design, patients were randomized into two groups according to right (R) or left (L) radial access. Primary endpoints were used to assess the efficacy and safety of radial access to perform liver TACE interventions; secondary endpoints were used to compare procedural comfort and operator radiation exposure. Technical efficacy was intended as procedural accomplishment via sole radial access. Safety was assessed in terms of complication occurrence. Operator radiation exposure was monitored according to dosimeters and beam-on time. Patient and operator procedural comfort was investigated using a visual analog scale. Results: A total of 61 patients (17 women and 44 men; mean age 68.4 years) were enrolled. Group R included 32 patients, and group L had 29; all were affected by hepatocellular carcinoma and treated with palliative or bridge-to-transplant intent. Sixteen (26.2%) had abnormal coagulation function. Technical success did not statistically differ between the two groups (96.8% group R vs. 100% group L). No major complications were recorded. While no differences were detected in terms of radiation exposure values and patient comfort, operators were significantly in favor of the right radial artery. Conclusions: In this sample, both right and left radial access were technically effective and safe, without significant differences in operator radiation exposure and patient comfort; considering significantly higher operator comfort with the right approach, right radial artery could be considered the right radial access for liver TACE interventions. Full article
(This article belongs to the Section Medical Imaging and Theranostics)
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25 pages, 4039 KB  
Article
A Deep Learning Framework for Early Parkinson’s Disease Detection: Leveraging Spiral and Wave Handwriting Tasks with EfficientNetV2-S
by Ayesha Razaq, Shabana Ramzan, Sohail Jabbar, Muhammad Munwar Iqbal, Muhammad Asif Habib and Umar Raza
Diagnostics 2025, 15(21), 2795; https://doi.org/10.3390/diagnostics15212795 - 4 Nov 2025
Viewed by 758
Abstract
Background: Early detection of Parkinson’s disease (PD) is vital for improving patient outcomes, yet traditional diagnostic methods often depend on subjective clinical evaluations. Methods: This study proposes a novel deep learning framework for PD detection based on spiral and wave handwriting patterns from [...] Read more.
Background: Early detection of Parkinson’s disease (PD) is vital for improving patient outcomes, yet traditional diagnostic methods often depend on subjective clinical evaluations. Methods: This study proposes a novel deep learning framework for PD detection based on spiral and wave handwriting patterns from the PaHaW dataset. A comprehensive preprocessing pipeline is implemented, integrating histogram equalization and Canny edge detection. The processed spiral and wave images are evaluated independently using a fine-tuned EfficientNetV2-S architecture for binary classification. In addition to the EfficientNetV2-S experiments, a baseline Convolutional Neural Network (CNN) model is implemented separately for the spiral and wave handwriting images. The proposed model is further assessed using a 5-fold cross-validation strategy to ensure robustness and generalizability. Results: The models achieved validation accuracies of 98.68% on the spiral dataset and 98.10% on the wave dataset, with high Receiver Operating Characteristic–Area Under the Curve (ROC–AUC) scores, indicating robust discrimination between healthy and PD subjects. Analysis of the confusion matrix and classification results confirmed consistent sensitivity and specificity across the dataset. The 5-fold cross-validation yielded a standard deviation of ±0.0109. Conclusions: These results highlight the strong potential of handwriting analysis for early PD detection. Full article
(This article belongs to the Section Machine Learning and Artificial Intelligence in Diagnostics)
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11 pages, 1959 KB  
Article
Coronal CT Attenuation Measurement for Osteoporosis Screening at the Proximal Femur: A Comparative Study with the Axial Approach
by Kaifeng Ye, Junbo Qi, Jixing Fan, Yutian Luo, Yanlei Dong, Yuanyu Hu, Zhuo Chen and Yun Tian
Diagnostics 2025, 15(21), 2794; https://doi.org/10.3390/diagnostics15212794 - 4 Nov 2025
Viewed by 435
Abstract
Objectives: There is currently a lack of research on coronal Computed Tomography (CT) attenuation measurements. This study aimed to evaluate a coronal CT attenuation measurement method for osteoporosis screening at the proximal femur and compare its performance with the conventional axial approach. [...] Read more.
Objectives: There is currently a lack of research on coronal Computed Tomography (CT) attenuation measurements. This study aimed to evaluate a coronal CT attenuation measurement method for osteoporosis screening at the proximal femur and compare its performance with the conventional axial approach. Methods: A retrospective analysis was conducted on 708 patients who underwent both proximal femur CT and dual-energy X-ray absorptiometry (DXA) within a 6-month period between January 2013 and December 2023. The axial and coronal CT attenuation values for these patients were measured. The correlation, agreement, and efficacy in screening osteoporosis of the two methods were further evaluated and compared. Results: Both measurement methods demonstrated excellent inter-observer reliability. Axial measurements yielded slightly higher HU values than coronal measurements (mean difference: 3.93 Hounsfield unit (HU), p < 0.001), and the Bland–Altman analysis showed a Coefficient of Repeatability (CR) = 9.09 HU (95% CI: 8.63 to 9.61) between the two methods. A strong correlation was observed between the two measurements (Pearson’s coefficient (r) of 0.919 (95% CI: 0.907–0.930, p < 0.001)). Coronal measurements showed comparable correlation with femoral T-scores to axial measurements (0.766 (95% CI: 0.730–0.808) vs. 0.736 (95% CI: 0.697–0.771), p = 0.195). Coronal and axial measurements exhibit good predictive performance for osteoporosis diagnosis, with no statistically significant difference in AUC values between the two methods (0.850 vs. 0.864, p = 0.097). Conclusions: The coronal CT attenuation measurement method provides a reliable and complementary diagnostic tool for opportunistic osteoporosis screening, demonstrating strong correlation with axial measurements and comparable diagnostic accuracy. Full article
(This article belongs to the Section Medical Imaging and Theranostics)
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16 pages, 2423 KB  
Review
Optimum Patient’s Selection for Atrial Fibrillation Ablation Using Echocardiography
by Matteo Cameli, Maria Concetta Pastore, Francesco Morrone, Giulia Elena Mandoli, Giovanni Benfari, Federica Ilardi, Matteo Lisi, Alessandro Malagoli, Simona Sperlongano, Ciro Santoro, Andrea Stefanini, Elena Placuzzi, Annalisa Pasquini, Miriam Durante, Aleksander Dokollari, Michael Y. Henein and Antonello D’Andrea
Diagnostics 2025, 15(21), 2793; https://doi.org/10.3390/diagnostics15212793 - 4 Nov 2025
Viewed by 816
Abstract
Catheter ablation (CA) has become a validated technique for treating patients with symptomatic or paroxysmal atrial fibrillation (AF), as recommended by the latest 2024 European society of cardiology (ESC) guidelines, class II level A. The procedure is also recommended for patients with persistent [...] Read more.
Catheter ablation (CA) has become a validated technique for treating patients with symptomatic or paroxysmal atrial fibrillation (AF), as recommended by the latest 2024 European society of cardiology (ESC) guidelines, class II level A. The procedure is also recommended for patients with persistent AF without major risk factors for AF recurrence, as an alternative to antiarrhythmic medications class I or III. However, CA carries the risk of AF recurrence in 30–35% of patients, sometimes after the procedure. Multiple factors impact the onset, maintenance, and recurrence of AF after CA, including clinical, biohumoral, echocardiographic, genetic, and lifestyle factors. Beyond traditional predictors, emerging factors such as obstructive sleep apnea syndrome, chronic renal failure, chronic lung disease, physical activity patterns, gut microbiota composition, and epicardial fat thickness significantly influence outcomes. Therefore, optimizing patient’s selection for CA is an important strategy to minimize the risk of AF recurrence. Many echocardiographic parameters emerged as predictors of AF recurrence post-CA, but none stood out as a potential single factor. These factors include traditional markers such as left atrial size by 2D echocardiography, LV ejection fraction, LV diastolic function parameters as well as myocardial deformation addressed by the recently developed speckle tracking analysis. Additionally, the duration and type of AF represent fundamental risk factors, with longstanding persistent AF showing significantly higher recurrence rates compared to paroxysmal forms. Novel biomarkers including MR-proANP, caspase-8, hsa-miR-206, and neurotrophin-3 show promise in enhancing risk prediction capabilities. The aim of this review is to explore the most relevant echocardiographic parameters, including myocardial deformation, that could accurately predict recurrence of AF after CA, while also examining the role of emerging clinical and biochemical predictors in comprehensive patient selection strategies. Full article
(This article belongs to the Section Medical Imaging and Theranostics)
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3 pages, 413 KB  
Interesting Images
Type F Quadricuspid Aortic Valve at Three-Dimensional Transoesophageal Echocardiography
by Alessandro Barbarossa, Francesca Coraducci, Corrado Tagliati, Filippo Capestro, Barbara Orazi, Federico Guerra, Marco Di Eusanio and Antonio Dello Russo
Diagnostics 2025, 15(21), 2792; https://doi.org/10.3390/diagnostics15212792 - 4 Nov 2025
Viewed by 286
Abstract
We present the case of an asymptomatic 40-year-old male patient who underwent a transoesophageal echocardiography examination for further evaluation of aortic regurgitation. On physical examination, an occasional diastolic murmur was detected. Transthoracic echocardiography demonstrated aortic regurgitation that was difficult to quantify accurately. A [...] Read more.
We present the case of an asymptomatic 40-year-old male patient who underwent a transoesophageal echocardiography examination for further evaluation of aortic regurgitation. On physical examination, an occasional diastolic murmur was detected. Transthoracic echocardiography demonstrated aortic regurgitation that was difficult to quantify accurately. A type F quadricuspid aortic valve was subsequently identified and confirmed by three-dimensional transoesophageal echocardiography. Full article
(This article belongs to the Collection Interesting Images)
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12 pages, 5440 KB  
Article
Dynamic Distance Mapping Enhances Hallux Valgus Progression Visualization
by Dror Robinson, Hamza Murad, Muhammad Khatib, Muhamad Kiwan Mahamid, Eitan Lavon and Mustafa Yassin
Diagnostics 2025, 15(21), 2791; https://doi.org/10.3390/diagnostics15212791 - 4 Nov 2025
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Abstract
Background/Objectives: Hallux valgus (HV), a common foot deformity, is difficult to quantify beyond traditional angular measurements. This study introduces a novel dynamic distance mapping technique to visualize HV progression and identify spatial features linked to severity. Methods: A retrospective analysis of 335 [...] Read more.
Background/Objectives: Hallux valgus (HV), a common foot deformity, is difficult to quantify beyond traditional angular measurements. This study introduces a novel dynamic distance mapping technique to visualize HV progression and identify spatial features linked to severity. Methods: A retrospective analysis of 335 feet from 178 patients undergoing HV surgery at Hasharon Hospital, Israel (2014–2024), utilized custom Python software to annotate 24 landmarks on preoperative standing anteroposterior radiographs. This generated 276 normalized Euclidean distances, analyzed via Pearson correlation against HV angles (HVA, IMA, DMAA, HIA). Results: Seven distances correlated negatively (r > 0.4, p < 0.05) and seven positively with HVA, involving the distal phalanx, sesamoids, and second metatarsal. Eleven distances showed strong positive correlation (r > 0.4, p < 0.05) with IMA, reflecting displacement patterns. Moderate correlations were observed with DMAA (six negative, r −0.3 to −0.4; two positive, r 0.3 to 0.4, p < 0.05) and HIA (two negative, r −0.3 to −0.4, p < 0.05). Visualizations highlighted progressive spatial changes. Conclusions: Dynamic distance mapping provides valuable insights into hallux valgus (HV) progression, as evidenced by significant correlations with HVA and IMA, supporting its potential role in surgical planning. However, its ability to capture 3D deformities requires validation against weightbearing computed tomography (WBCT). Future research should explore correlations with specific indications for corrective osteotomies to enhance clinical applicability. Full article
(This article belongs to the Section Machine Learning and Artificial Intelligence in Diagnostics)
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Article
Machine Learning-Based Prediction of Decompensation in Hepatitis B Virus-Related Cirrhosis
by Hsueh-Chun Lin, Meng-Lun Hsieh, Meng-Yu Liu, Chin-Chi Kuo, Shwn-Huey Shieh, Ming-Shun Hsieh and Vivian Chia-Rong Hsieh
Diagnostics 2025, 15(21), 2790; https://doi.org/10.3390/diagnostics15212790 - 4 Nov 2025
Viewed by 613
Abstract
Background/Objectives: Fatality of cirrhotic patients greatly increases when they progress to the decompensated state. Only a few studies to date have applied machine learning (ML) methods to predict decompensation in cirrhosis patients. In the present study, we attempted to apply self-developed ML [...] Read more.
Background/Objectives: Fatality of cirrhotic patients greatly increases when they progress to the decompensated state. Only a few studies to date have applied machine learning (ML) methods to predict decompensation in cirrhosis patients. In the present study, we attempted to apply self-developed ML models for validating their capability of predicting different complications in hepatitis B virus (HBV)-related cirrhosis patients. Methods: Data were extracted from electronic health records of 50,047 patients who were tested and diagnosed with HBV in a tertiary hospital. Four different algorithms (Support Vector Machine (SVM), Logistic Regression (LR), Decision Tree (DT), Random Forest (RF)) were utilized, and a total of 32 ML models were trained and tested to predict variceal bleeding, ascites, jaundice, and multiple complications (≥2 complications) in HBV-related cirrhosis patients. The use of two antiviral drugs were considered: entecavir (ETV) and lamivudine (LAM). Performance of the models was assessed using area under receiver operating characteristic curve (AUROC) and accuracy score. Results: SVM and RF classifications produced the best overall predictions for decompensation in HBV-related cirrhosis patients, with AUROCs ranging from 0.85 to 0.93 and accuracy scores between 0.77 to 0.88 for ascites, jaundice, and multiple complications. The SVM and LR algorithms generated the best performance in differentiating ascites among ETV users, with AUROC of 0.93 and 0.92 and accuracy of 0.88 and 0.86, respectively. Antiviral treatment (type, length of use, adherence), and other routinely collected clinical information may serve as informative markers in differentiating decompensated cirrhosis. Conclusions: ML-based prediction of decompensation using electronic health records may assist clinicians in decision making. Findings of this study also underline the impact of antiviral therapy as a key predictor for decompensation. Full article
(This article belongs to the Special Issue Diagnostic and Prognostic Markers in Liver Diseases)
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