Diagnostics

15 pages, 1109 KB

Open AccessArticle

Automated Segmentation of Digital Artifacts in Intraoral Photostimulable Phosphor Radiographs

by Ceyda Gizem Topal, Osman Yalçın, Hatice Tetik, Murat Ünal, Necla Bandirmali Erturk and Cemile Özlem Üçok

Diagnostics 2026, 16(8), 1194; https://doi.org/10.3390/diagnostics16081194 (registering DOI) - 16 Apr 2026

Abstract

Background/Objectives: Intraoral radiographs acquired using photostimulable phosphor (PSP) plates are inherently susceptible to a wide spectrum of artifacts that can compromise diagnostic reliability and lead to unnecessary repeat exposures. Although structured taxonomies describing these artifacts have been proposed, automated methods capable of [...] Read more.

Background/Objectives: Intraoral radiographs acquired using photostimulable phosphor (PSP) plates are inherently susceptible to a wide spectrum of artifacts that can compromise diagnostic reliability and lead to unnecessary repeat exposures. Although structured taxonomies describing these artifacts have been proposed, automated methods capable of detecting and localizing multiple artifact types at the pixel level remain limited, particularly under realistic multi-class conditions. In this study, we address the problem of fine-grained, multi-class PSP artifact segmentation by systematically evaluating a deep learning-based framework and establishing a realistic baseline for this inherently challenging task. Methods: A retrospective, multi-center dataset comprising 1497 intraoral PSP radiographs (bitewing and periapical) collected from three institutions was analyzed. Pixel-level annotations were generated by expert oral and maxillofacial radiologists according to a standardized taxonomy consisting of four major artifact groups and 29 artifact classes, together with a background class. A 2D nnU-Net v2 architecture was employed as a baseline segmentation model. Model development was performed using 5-fold cross-validation, and performance was evaluated on an independent test set using Dice coefficient, Intersection over Union (IoU), Precision, and Recall. Results: Across all classes, the model achieved a mean Dice score of 0.0894 ± 0.0084 in cross-validation and 0.0952 on the independent test set, reflecting the intrinsic complexity of the task. Class-wise analysis revealed substantial variability, with higher performance in larger and visually distinctive artifacts, whereas small-scale, low-contrast, and underrepresented classes exhibited markedly reduced performance. Notably, several artifact categories were absent from the training data, resulting in a zero-shot scenario that directly constrained model generalization. Furthermore, segmentation performance demonstrated a strong dependency on class frequency, measured in terms of pixel distribution, underscoring the impact of severe class imbalance. Group-based evaluation showed relatively higher performance for pre-exposure and exposure-related artifacts compared to post-exposure and scanner-related categories. Conclusions: These findings demonstrate that large-scale, multi-class pixel-level segmentation of PSP artifacts represents a fundamentally challenging problem shaped by the combined effects of class imbalance, small object size, heterogeneous artifact morphology, and incomplete training representation. While the proposed framework confirms the feasibility of automated artifact localization, its current performance suggests greater immediate value as a quality control or screening support tool rather than a fully autonomous diagnostic system. By providing a comprehensive baseline and systematic analysis, this study establishes a benchmark for future research and highlights the critical need for imbalance-aware learning strategies, hierarchical modeling, and data-centric approaches to advance this field. Full article

(This article belongs to the Special Issue Artificial Intelligence in Health Monitoring and Diagnosis: AI Meets Conventional Models—2nd Edition)

32 pages, 1800 KB

Open AccessArticle

Prognostic Value of Nutritional Risk Scores in Septic ICU Patients: A Survival Analysis Using mNUTRIC, PNI, and CONUT

by Marius Bogdan Novac, Gabriel-Petre Gorecki, Alin Pătru, Anda Lorena Dijmărescu, Diana-Ruxandra Hădăreanu, Mohamed-Zakaria Assani, Lidia Boldeanu, Mihail Virgil Boldeanu and George Alin Stoica

Diagnostics 2026, 16(8), 1193; https://doi.org/10.3390/diagnostics16081193 (registering DOI) - 16 Apr 2026

Abstract

Background: Malnutrition is highly prevalent among critically ill patients and has been associated with worse clinical outcomes, particularly in sepsis. Several nutritional risk scores have been proposed to identify patients at increased risk of mortality in the intensive care unit (ICU). This [...] Read more.

Background: Malnutrition is highly prevalent among critically ill patients and has been associated with worse clinical outcomes, particularly in sepsis. Several nutritional risk scores have been proposed to identify patients at increased risk of mortality in the intensive care unit (ICU). This study aimed to evaluate the prognostic value of three commonly used nutritional indices—modified Nutrition Risk in the Critically Ill (mNUTRIC), Prognostic Nutritional Index (PNI), and Controlling Nutritional Status (CONUT)—for predicting mortality in septic ICU patients. Methods: In this prospective observational cohort study conducted at two ICUs, 155 critically ill patients at nutritional risk were evaluated, including 105 patients with sepsis and 50 without sepsis. The primary endpoint was ICU mortality. Nutritional risk scores (mNUTRIC, PNI, and CONUT) were calculated at ICU admission. Survival analysis was performed using Kaplan–Meier (KM) curves and log-rank tests to compare survival probabilities across nutritional risk categories. Cox proportional hazards regression analysis was used to assess the association between nutritional scores and ICU mortality. Of note, only 24 mortality events were recorded in the septic cohort, which limits the statistical power of the findings. Results: KM analysis revealed significantly reduced survival among patients with severe malnutrition, as measured by the PNI score (log-rank p = 0.044). Patients with high mNUTRIC scores showed a tendency toward lower survival probability compared with those with low nutritional risk, approaching statistical significance (log-rank p = 0.059). No significant survival differences were observed between CONUT categories (log-rank p = 0.380). In univariate Cox regression analysis, the mNUTRIC score was significantly associated with ICU mortality (HR 1.67, 95% CI 1.17–2.38, p = 0.005). Conclusions: In this selected cohort, mNUTRIC demonstrated the strongest univariate prognostic signal for ICU mortality; however, this association was attenuated and did not reach statistical significance after limited multivariable adjustment. These findings are exploratory and apply specifically to a cohort of septic ICU patients with confirmed nutritional risk and therefore should not be generalized to the broader population of critically ill septic patients. Full article

(This article belongs to the Section Clinical Diagnosis and Prognosis)

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16 pages, 1246 KB

Open AccessArticle

Proteomics in Cardiovascular Deaths, a Postmortem Pilot Study: The Diagnostic Efficacy of α-1 Antitrypsin and Apolipoprotein A-IV in Ischemic and Congestive Deaths

by Marina Invernón Monedero, María Esther Pérez Artiago, Juan Pedro Hernández del Rincón, María Dolores Fuentes, María D. Pérez-Cárceles, Eduardo Osuna and Diana Hernández-Romero

Diagnostics 2026, 16(8), 1192; https://doi.org/10.3390/diagnostics16081192 - 16 Apr 2026

Abstract

Background/Objectives: Determining the cardiovascular cause of death, particularly distinguishing ischemic from congestive mechanisms, remains challenging in forensic practice, especially in early ischemia without definitive histological findings. Proteomic techniques and molecular profiling may provide complementary diagnostic information beyond conventional autopsy. Methods: We [...] Read more.

Background/Objectives: Determining the cardiovascular cause of death, particularly distinguishing ischemic from congestive mechanisms, remains challenging in forensic practice, especially in early ischemia without definitive histological findings. Proteomic techniques and molecular profiling may provide complementary diagnostic information beyond conventional autopsy. Methods: We applied an untargeted high-resolution proteomic approach to postmortem cardiac tissue samples from cardiovascular (ischemic and congestive) and non-cardiovascular deaths. Identified proteins were analyzed using bioinformatic and differential expression workflows. Selected candidates were evaluated in peripheral blood samples for translational validation using statistical modeling, including regression analyses and receiver operating characteristic (ROC) curve assessment. Results: A total of 572 proteins were identified. Although no proteins fulfilled strict exclusivity criteria for a single cause-of-death group, differential expression analysis revealed distinct molecular patterns distinguishing ischemic, congestive, and non-cardiovascular deaths. Thirty-one proteins were differentially expressed between ischemic and congestive cases, including α-1 antitrypsin (AAT), plasma levels did not demonstrate statistically significant discrimination. In contrast, plasma Apolipoprotein A-IV (ApoA-IV) levels were significantly associated with ischemic death in regression models, and ROC analysis yielded a cutoff point with complete separation between ischemic and selected non-cardiovascular cases. However, the limited sample size warrants cautious interpretation due to potential overfitting. Conclusions: Postmortem cardiac proteomic profiling reveals biologically coherent molecular signatures associated with different cardiovascular causes of death. Although further validation in larger independent cohorts is required, ApoA-IV emerges as a promising candidate biomarker for ischemic cardiac death. Multimarker proteomic strategies may complement traditional autopsy to enhance diagnostic accuracy in forensic investigations, particularly in cases with equivocal morphological findings. Full article

(This article belongs to the Section Pathology and Molecular Diagnostics)

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17 pages, 1243 KB

Open AccessArticle

Habitat-Based Radiomics for Predicting Visceral Pleural Invasion in Subpleural Nodules with Solid Component on Low-Dose CT: A Multicenter Study

by Yu Long, Xiaoyu Li, Yong Li, Yongji Zheng, Wei Lin, Peng Zhou and Jieke Liu

Diagnostics 2026, 16(8), 1191; https://doi.org/10.3390/diagnostics16081191 - 16 Apr 2026

Abstract

Objectives: Our objectives were to develop and validate the habitat model based on low-dose computed tomography (LDCT) for noninvasive prediction of the visceral pleural invasion (VPI) in subpleural nodules with solid component. Methods: A total of 313 patients with subpleural lung [...] Read more.

Objectives: Our objectives were to develop and validate the habitat model based on low-dose computed tomography (LDCT) for noninvasive prediction of the visceral pleural invasion (VPI) in subpleural nodules with solid component. Methods: A total of 313 patients with subpleural lung adenocarcinoma nodules from three centers were retrospectively enrolled and divided into training (n = 192), validation (n = 82), and external test (n = 39) sets. All patients underwent preoperative LDCT scan. The habitat model was constructed using unsupervised clustering to partition each tumor into three distinct habitats, from which radiomic features were extracted and selected. Its diagnostic performance was compared with a whole-lesion radiomic model and radiological model. Statistical analysis included receiver operating characteristic (ROC) analysis and DeLong test. Results: The habitat model significantly outperformed both the radiomic and radiological models across the validation and external test sets, with areas under the ROC curve of 0.893 and 0.908, respectively (all p < 0.05). In contrast, the radiomic model achieved 0.833 and 0.772, while the radiological model yielded 0.746 and 0.624. The corresponding software tool has been made publicly available to facilitate broader clinical application. Conclusions: The habitat imaging model based on LDCT effectively predicts the VPI in subpleural lung adenocarcinoma by quantifying intratumoral spatial heterogeneity and demonstrates promising diagnostic performance compared to conventional radiomic and radiological methods. This approach offers a noninvasive preoperative tool to assist in risk stratification and guide personalized therapeutic decision-making for subpleural nodules detected during lung cancer screening. Full article

(This article belongs to the Special Issue Lung Cancer Diagnosis and Prognosis Prediction)

2 pages, 244 KB

Open AccessInteresting Images

A Subtle Sister Mary Joseph Nodule in Metastatic Pancreatic Cancer

by Mohammed Abdulrasak

Diagnostics 2026, 16(8), 1190; https://doi.org/10.3390/diagnostics16081190 - 16 Apr 2026

Abstract

A 47-year-old woman with metastatic pancreatic adenocarcinoma, diagnosed five months earlier and treated with palliative chemotherapy, was admitted with fever, jaundice, and right upper quadrant pain consistent with ascending cholangitis. Treatment with antibiotics was initiated and an endoscopic retrograde cholangiography was performed, whereby [...] Read more.

A 47-year-old woman with metastatic pancreatic adenocarcinoma, diagnosed five months earlier and treated with palliative chemotherapy, was admitted with fever, jaundice, and right upper quadrant pain consistent with ascending cholangitis. Treatment with antibiotics was initiated and an endoscopic retrograde cholangiography was performed, whereby a biliary stent was placed to relieve malignant biliary obstruction. Physical examination revealed moderate ascites. Careful inspection of the umbilicus revealed a small nodular lesion located within the umbilical fold that became visible only after eversion of the umbilicus. The lesion had developed gradually over several weeks. Computed tomography confirmed the known pancreatic malignancy with metastatic disease and ascites. On re-review of the images, a small soft tissue nodule replacing the umbilicus was also visible. The lesion was clinically consistent with a Sister Mary Joseph nodule, an umbilical metastasis most commonly associated with advanced gastrointestinal or gynecologic malignancies. These lesions may arise through lymphatic or hematogenous spread or through direct extension into the umbilicus. This case highlights that umbilical metastases may be subtle and located within the umbilical fold, requiring careful physical examination to be detected. Full article

(This article belongs to the Collection Interesting Images)

7 pages, 2549 KB

Open AccessInteresting Images

Anterior Segment OCT in Fulminant Pseudomonas aeruginosa Corneal Ulcer with Stromal Melting Requiring Emergency Penetrating Keratoplasty

by Wojciech Luboń, Monika Sarnat-Kucharczyk and Mariola Dorecka

Diagnostics 2026, 16(8), 1189; https://doi.org/10.3390/diagnostics16081189 - 16 Apr 2026

Abstract

Rapidly progressive infectious keratitis may involve the anterior uveal tract and lead to anterior segment inflammation, resulting in severe structural damage of the cornea and potentially causing corneal perforation or endophthalmitis if not promptly treated. We report the case of a 63-year-old male [...] Read more.

Rapidly progressive infectious keratitis may involve the anterior uveal tract and lead to anterior segment inflammation, resulting in severe structural damage of the cornea and potentially causing corneal perforation or endophthalmitis if not promptly treated. We report the case of a 63-year-old male admitted to the Emergency Ophthalmology Department of the University Clinical Center in Katowice, Poland, with a rapidly progressive corneal ulcer of the left eye that had not responded to two weeks of outpatient topical antibiotic therapy. The condition developed after ocular trauma sustained while chopping wood. At presentation, visual acuity was limited to light perception with preserved projection. Multimodal imaging, including slit-lamp examination, anterior segment optical coherence tomography (AS-OCT), and in vivo confocal microscopy, revealed extensive corneal ulceration with severe stromal destruction, progressive corneal melting, and marked anterior segment inflammation, with an imminent risk of perforation. Microbiological cultures identified Pseudomonas aeruginosa. Despite intensive empiric topical antimicrobial therapy targeting both bacterial infection and a possible fungal component related to trauma with organic material, rapid clinical deterioration necessitated emergency therapeutic penetrating keratoplasty (PK). The procedure resulted in rapid resolution of inflammation and improvement in visual acuity, with best-corrected visual acuity (BCVA) reaching 0.3 logMAR during follow-up. At the three-month follow-up, the corneal graft remained clear with stable visual acuity and no recurrence of infection. The patient remains under regular long-term follow-up, with ongoing monitoring of graft clarity, intraocular pressure (IOP), and visual function. This case differs from routine presentations of infectious keratitis by demonstrating exceptionally rapid stromal melting despite promptly initiated empiric topical therapy. Multimodal imaging, particularly AS-OCT provided clinically meaningful information by revealing structural instability and an imminent risk of perforation not fully appreciable on slit-lamp examination, thereby supporting timely urgent keratoplasty. These findings highlight the practical diagnostic value of imaging-based assessment in advanced infectious keratitis and underscore its role in guiding surgical decision-making in eyes at high risk of corneal perforation. Full article

(This article belongs to the Special Issue Diagnostic Imaging in Ocular Surface)

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14 pages, 636 KB

Open AccessArticle

Discordance Between Conventional Ultrasound and Transient Elastography in Hepatic Steatosis Assessment: Clinical Factors Associated with Discrepant Findings

by Mihaela Cristina Brisc, Elena Emilia Babeș, Sabina Florina Călugăr-Șolea, Simona Bota, Laura Maghiar, Ciprian Mihai Brisc and Ciprian Brisc

Diagnostics 2026, 16(8), 1188; https://doi.org/10.3390/diagnostics16081188 - 16 Apr 2026

Abstract

Background: Discrepancies are frequently observed between liver steatosis grading assessed by conventional B-mode ultrasonography and vibration-controlled transient elastography (VCTE) with controlled attenuation parameter (CAP). This study aimed to identify factors associated with these differences and to evaluate whether the two imaging methods [...] Read more.

Background: Discrepancies are frequently observed between liver steatosis grading assessed by conventional B-mode ultrasonography and vibration-controlled transient elastography (VCTE) with controlled attenuation parameter (CAP). This study aimed to identify factors associated with these differences and to evaluate whether the two imaging methods provide comparable steatosis classifications. Methods: We conducted a retrospective cross-sectional observational study including 130 hospitalized patients evaluated over a two-year period who underwent laboratory testing, abdominal ultrasonography, and transient elastography. The analyzed variables included demographic characteristics, nutritional status, comorbidities, and biochemical parameters such as alanine aminotransferase (ALAT), total cholesterol, triglycerides, gamma-glutamyl transferase (GGT), and the fibrosis-4 index (FIB-4). Patients were classified into two groups: concordant steatosis grading between the two methods (n = 61) and discordant results (n = 69). Results: Concordant steatosis grading was more frequently observed in patients with serum total cholesterol > 200 mg/dL (45.9%) and FIB-4 values between 1.45–3.25 (44.2%). A trend toward higher concordance was also observed in patients with elevated triglycerides. In contrast, viral liver disease was significantly associated with discordant results (26.2%). Higher fibrosis stages assessed by VCTE (F ≥ 2) and FIB-4 values > 3.25 showed a non-significant trend toward discordance. Conclusions: Several clinical and biochemical factors influence the agreement between ultrasound and VCTE-based CAP in the assessment of hepatic steatosis. Elevated cholesterol and intermediate FIB-4 values were associated with concordant results, whereas viral liver disease was associated with discordance between the two imaging modalities. Full article

(This article belongs to the Special Issue Abdominal Diseases: Diagnosis, Treatment and Management—2nd Edition)

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12 pages, 584 KB

Open AccessArticle

Diagnostic and Prognostic Implications of Ultra-Low-Profile INCRAFT and Ovation Endografts: Long-Term Follow-Up in a Single-Center Experience

by Fabio Massimo Oddi, Rosario Micali, Andrea Cuoghi, Grazia Granata, Manuel Romano, Federico Francisco Pennetta, Mauro Fresilli, Andrea Ascoli Marchetti and Eugenio Martelli

Diagnostics 2026, 16(8), 1187; https://doi.org/10.3390/diagnostics16081187 - 16 Apr 2026

Abstract

Background/Objectives: Ultra-low-profile (ULP) endografts have expanded the applicability of endovascular aneurysm repair (EVAR) in patients with challenging aortoiliac anatomy and narrow access vessels. However, direct long-term comparisons between different ULP devices remain limited. This study aimed to compare mid- to long-term outcomes [...] Read more.

Background/Objectives: Ultra-low-profile (ULP) endografts have expanded the applicability of endovascular aneurysm repair (EVAR) in patients with challenging aortoiliac anatomy and narrow access vessels. However, direct long-term comparisons between different ULP devices remain limited. This study aimed to compare mid- to long-term outcomes of the INCRAFT and Ovation endografts in a single-center experience. Methods: This retrospective single-center study included 102 patients (45 Ovation, 57 INCRAFT) with a median follow-up exceeding 60 months. We retrospectively analyzed 102 consecutive patients undergoing elective EVAR with ULP devices between January 2011 and December 2019. Forty-five patients were treated with Ovation and 57 with INCRAFT. The primary endpoint was technical success. Secondary endpoints included survival, reintervention, endoleak, and device-related complications. Statistical comparisons were performed using Student’s t-test and Fisher’s exact test. Results: Primary technical success was achieved in all cases. The Ovation group exhibited more complex proximal neck anatomy, including greater thrombus involvement (47.4% vs. 12.7%, p < 0.001). Post-implantation syndrome occurred more frequently with INCRAFT (14% vs. 0%, p = 0.009). No significant differences were observed in endoleak, major adverse events, or total reintervention. Long-term mortality was higher in the Ovation group (37.8% vs. 15.8%, p = 0.01), although deaths were not aneurysm-related. Median follow-up exceeded 60 months in both groups. Conclusions: Both ULP endografts demonstrated favorable long-term outcomes within the limitations of a non-randomized, anatomically heterogeneous cohort. Full article

(This article belongs to the Section Clinical Diagnosis and Prognosis)

25 pages, 3135 KB

Open AccessArticle

The Perioperative Neurocognitive Disorder Prediction Based on AI-Assisted EEG Dynamic Features in Anesthetized Mice

by Xinyang Li, Hui Wang, Qingyuan Miao, Rui Zhou, Mengfan He, Hanxi Wan, Yuxin Zhang, Qian Zhang, Zhouxiang Li, Qianqian Wu, Zhi Tao, Xinwei Huang, Enduo Feng, Qiong Liu, Yinggang Zheng, Guangchao Zhao and Lize Xiong

Diagnostics 2026, 16(8), 1186; https://doi.org/10.3390/diagnostics16081186 - 16 Apr 2026

Abstract

Background: Postoperative neurocognitive disorders (PND) are frequent complications in the elderly surgical patients, with aging recognized as a major risk factor. This study aimed to identify electrophysiological markers and establish an exploratory machine learning framework for PND-related vulnerability prediction using anesthetic electroencephalography [...] Read more.

Background: Postoperative neurocognitive disorders (PND) are frequent complications in the elderly surgical patients, with aging recognized as a major risk factor. This study aimed to identify electrophysiological markers and establish an exploratory machine learning framework for PND-related vulnerability prediction using anesthetic electroencephalography (EEG) features in aged mice. Methods: Young and aged mice underwent laparotomy under isoflurane anesthesia with EEG recording. Neurocognitive performance was quantified by 16 standardized behavioral fractions. A semi-supervised K-means algorithm, anchored on young-surgery mice, stratified aged-surgery mice into PND and non-PND clusters. EEG dynamics during anesthesia maintenance and emergence were analyzed, and machine learning models were trained to predict PND from EEG features. Results: At baseline, neurocognitive function was comparable across groups. After anesthesia/surgery, aged mice exhibited selective spatial and contextual memory impairments, with two-thirds classified as PND. During emergence, PND mice displayed elevated δ power and reduced α and β ratios. A Multi-layer Perceptron classifier showed discriminatory performance for PND classification in one evaluation setting (AUC = 0.94). Conclusions: This study identifies emergence-related EEG features associated with postoperative neurocognitive vulnerability in aged mice and provides an exploratory machine learning framework for preclinical risk stratification. These findings support further mechanistic investigation and warrant future validation in human perioperative EEG datasets. Full article

(This article belongs to the Section Machine Learning and Artificial Intelligence in Diagnostics)

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11 pages, 7675 KB

Open AccessInteresting Images

Papillary Thyroid Carcinoma, Bilateral Macronodular Adrenal Cortical Disease-Related Cortisol Excess, and Femoral Enchondroma: A Novel Phenotype–Genotype Based on Next-Generation Sequencing (Variants of APC, MSH6, and CACNA1S Genes)

by Mara Carsote, Sorina Violeta Schipor, Anda Dumitrascu, Ana-Maria Gheorghe, Oana-Claudia Sima, Dana Manda, Mihai Costachescu, Andrei Muresan, Emi Marinela Preda and Dana Terzea

Diagnostics 2026, 16(8), 1185; https://doi.org/10.3390/diagnostics16081185 - 16 Apr 2026

Abstract

This case highlights a novel genotype–phenotype correlation in the field of endocrinology. Specific endocrine and imaging assessment, in addition to next-generation sequencing (NGS), was performed on the Illumina MiSeq platform, using a TruSight One Sequencing Panel kit for genomic analysis of coding regions [...] Read more.

This case highlights a novel genotype–phenotype correlation in the field of endocrinology. Specific endocrine and imaging assessment, in addition to next-generation sequencing (NGS), was performed on the Illumina MiSeq platform, using a TruSight One Sequencing Panel kit for genomic analysis of coding regions of 4813 genes. A 54-year-old female was confirmed with a papillary thyroid carcinoma after total thyroidectomy and underwent radioiodine ablative therapy. Three years later, a left femoral enchondroma of almost 3 cm was identified at computed tomography (CT) scan and magnetic resonance imaging (MRI). She experienced hypertension (in addition to obesity, dyslipidaemia and impaired glucose tolerance) and was later confirmed with ACTH-independent cortisol excess [lack of cortisol suppression at 1 mg dexamethasone testing of 13.9 (normal < 1.8 µg/dL)], noting bilateral adrenal tumors, of 4.7 cm (right), respectively, and of 1.6 cm (left) at CT. Right laparoscopic adrenalectomy was performed with post-operative adrenal insufficiency, requiring glucocorticoid replacement and stopping the anti-hypertensive medication. Pathology report confirmed an adrenocortical adenoma (a Ki67 proliferation index of 2%). Noting the unusual association of the mentioned conditions, NGS was performed in the peripheral blood and identified a heterozygote missense variant of the APC gene (c.5759G>A, p.Arg1920Gln), a heterozygote missense variant of the MSH6 gene (c.2092C>G, p.Gln698Glu), and an incidental additional finding: a heterozygote stop gain pathogenic variant of the CACNA1S gene (c.2707C>T, p.Arg903*). The first two are currently classified as variants of uncertain significance. Whether the co-presence of a triple mutation may change the clinical picture and the life-long outcomes across reciprocal influence is still an open matter. Further research will point out the clinical implications of this genotype–phenotype association, which, to our best knowledge, has not been previously reported. Full article

(This article belongs to the Special Issue State of the Art in the Diagnosis and Management of Endocrine Tumors)

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16 pages, 788 KB

Open AccessArticle

Double-Convex Peroneal Tubercle Morphology and MRI-Detected Peroneal Tendon Abnormality in a Non-Lateral Referral Cohort

by Volkan Gür, Mehmet Burak Gökgöz, Abdurrahman Aydın, Ahmet Issın, Muhammet Ali Can, Oğuzhan Yanmaz, Nizamettin Koçkara and Furkan Yapıcı

Diagnostics 2026, 16(8), 1184; https://doi.org/10.3390/diagnostics16081184 - 16 Apr 2026

Abstract

Background: The peroneal tubercle demonstrates substantial morphologic variability and may influence peroneal tendon mechanics. This study evaluated whether peroneal tubercle morphology and size are associated with MRI-detected peroneal tendon abnormality in patients undergoing ankle MRI for ankle pain without documented lateral malleolar/retromalleolar [...] Read more.

Background: The peroneal tubercle demonstrates substantial morphologic variability and may influence peroneal tendon mechanics. This study evaluated whether peroneal tubercle morphology and size are associated with MRI-detected peroneal tendon abnormality in patients undergoing ankle MRI for ankle pain without documented lateral malleolar/retromalleolar or peroneal tendon-specific symptoms. Methods: In this retrospective cross-sectional study, 487 ankle MRI examinations obtained between 2020 and 2023 were analyzed after excluding cases with lateral ankle/peroneal symptoms, clinically significant acute trauma, prior ankle surgery, or systemic inflammatory disease. Two orthopedic surgeons independently classified peroneal tubercle morphology (single-convex vs. double-convex) and measured tubercle height and anteroposterior length. Peroneal tendon abnormality was defined as MRI features consistent with tendinopathy and/or tenosynovitis. Inter- and intraobserver reliability were assessed using intraclass correlation coefficients and Cohen’s kappa. Unadjusted associations were assessed using Fisher’s exact test and point-biserial correlation. Multivariable logistic regression was performed to evaluate independent associations after adjustment for age, sex, BMI, and hindfoot alignment. Results: Mean age was 43.6 ± 15.6 years; 226 participants were male, and 261 were female. Peroneal tendon abnormality was present in 227/487 examinations (46.6%). Double-convex morphology showed a higher prevalence of abnormality than single-convex morphology (69.6% vs. 43.6%; unadjusted OR 2.97, 95% CI 1.63–5.41; p < 0.001). In the adjusted model, double-convex morphology remained independently associated with peroneal tendon abnormality (OR 2.85, 95% CI 1.52–5.34; p = 0.001). Tubercle height showed a modest independent association (OR 1.12 per mm, 95% CI 1.04–1.20; p = 0.002), whereas tubercle length was not associated (OR 1.008, 95% CI 0.981–1.036; p = 0.541). Reliability was excellent for tubercle height, tubercle length, and hindfoot alignment measurements and substantial to excellent for categorical ratings. Conclusions: In this non-lateral referral cohort, double-convex peroneal tubercle morphology was independently associated with higher odds of MRI-detected peroneal tendon abnormality. These findings reflect cross-sectional imaging associations rather than causation and should be interpreted with caution, given the heterogeneous MRI endpoint and the routine clinical MRI protocol. Full article

(This article belongs to the Section Clinical Diagnosis and Prognosis)

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8 pages, 177 KB

Open AccessEditorial

Image Quality Assessment Methods in Clinical Diagnostic Imaging: Overview of Current Technical Perspectives

by Rafal Obuchowicz, Adam Piórkowski and Michał Strzelecki

Diagnostics 2026, 16(8), 1183; https://doi.org/10.3390/diagnostics16081183 - 16 Apr 2026

Abstract

Diagnostic imaging is a cornerstone of modern medicine, supporting disease detection, therapy planning, treatment monitoring, and outcome assessment across virtually all clinical specialties [...] Full article

(This article belongs to the Special Issue Image Quality Assessment Methods in Radiography, Computed Tomography and Magnetic Resonance)

12 pages, 713 KB

Open AccessArticle

Pilot CBCT-Based Volumetric and Morphometric Analysis of the Pterygopalatine Fossa in a Romanian Cohort: A Retrospective Study

by Andreea Kui, Smaranda Buduru, Anca Labunet, Simona Iacob, Elena Alexandra Iacob, Adrian Stefan Petruțiu, Dalia Popa, Iulia Valeria Ile and Marius Negucioiu

Diagnostics 2026, 16(8), 1182; https://doi.org/10.3390/diagnostics16081182 - 16 Apr 2026

Abstract

Background: The pterygopalatine fossa (PPF) is a complex anatomical region containing critical neurovascular structures and serving as an important surgical landmark for endoscopic and transmaxillary approaches. Quantitative data on its volumetric and linear morphology remain limited. Objectives: This study aimed to evaluate bilateral [...] Read more.

Background: The pterygopalatine fossa (PPF) is a complex anatomical region containing critical neurovascular structures and serving as an important surgical landmark for endoscopic and transmaxillary approaches. Quantitative data on its volumetric and linear morphology remain limited. Objectives: This study aimed to evaluate bilateral PPF volumes and linear dimensions using CBCT-based semi-automated segmentation, and to assess the influence of sex and age on PPF morphometry in a Romanian cohort. Methods: This single-center, retrospective pilot cone-beam computed tomography (CBCT) study analyzed 50 patients (28 males and 22 females; age range 16–80 years). Semi-automated segmentation was performed using ITK-SNAP software, and linear measurements were obtained from multiplanar reconstructions. Results: Males exhibited significantly larger mean PPF volumes than females (right: 868.96 vs. 759.86 mm³, p = 0.018; left: 836.71 vs. 703.00 mm³, p = 0.003). Significant age-related differences were observed, with younger patients (≤40 years) showing greater volumes (right: 907.06 mm³; left: 845.90 mm³) than older patients (>40 years: right: 691.80 mm³; left: 675.45 mm³; p < 0.0001 and p = 0.0003, respectively). Similar trends were observed for linear dimensions: mean height and width were consistently greater in males, and height was greater in the ≤40 age group. Left-side width did not differ significantly across age groups. No clinically relevant bilateral asymmetry was identified. Intra- and inter-observer reliability were excellent across all parameters (ICC > 0.90). Conclusions: These findings provide preliminary morphometric reference data on the PPF with potential implications for preoperative planning in maxillofacial surgery, endoscopic approaches, and regional anesthesia, pending prospective clinical validation. Full article

(This article belongs to the Special Issue Advances in Dental Imaging, 2nd Edition)

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27 pages, 1090 KB

Open AccessReview

Advances in Breast Cancer Diagnostics: From Screening to Precision Medicine

by Klaudia Kubiak, Joanna Bidzińska, Marta Bednarek and Edyta Szurowska

Diagnostics 2026, 16(8), 1181; https://doi.org/10.3390/diagnostics16081181 - 16 Apr 2026

Abstract

Breast cancer remains the most frequently diagnosed malignancy in women worldwide, accounting for approximately 2.3 million new cases and 670,000 deaths annually. The diagnostic landscape has undergone a paradigm shift over the past two decades, evolving from morphology-based classification toward molecularly informed, precision-guided [...] Read more.

Breast cancer remains the most frequently diagnosed malignancy in women worldwide, accounting for approximately 2.3 million new cases and 670,000 deaths annually. The diagnostic landscape has undergone a paradigm shift over the past two decades, evolving from morphology-based classification toward molecularly informed, precision-guided strategies. Early and accurate diagnosis is fundamental to improving outcomes; advances in imaging technology, including digital breast tomosynthesis (DBT), contrast-enhanced mammography (CEM), and abbreviated magnetic resonance imaging (MRI), have improved sensitivity and specificity in diverse patient populations. Simultaneously, the integration of artificial intelligence (AI) and radiomics into screening workflows offers unprecedented potential for risk stratification and a reduction in false-positives. At the pathological level, multi-gene expression profiling assays such as Oncotype DX, MammaPrint, Prosigna, and EndoPredict have refined prognostic classification and guide adjuvant chemotherapy decisions in early-stage hormone receptor-positive disease. The emergence of liquid biopsy, circulating tumor DNA (ctDNA), circulating tumor cells (CTCs), and exosomal biomarkers provides minimally invasive tools for real-time monitoring of response, residual disease, and the evolution of resistance mechanisms. Precision diagnostics now encompass next-generation sequencing (NGS)-based comprehensive genomic profiling, enabling identification of actionable alterations such as PIK3CA mutations, HER2 amplification, BRCA1/2 pathogenic variants, and NTRK fusions, each linked to approved therapeutic agents. The purpose of this review is to provide a comprehensive synthesis of current and emerging diagnostic modalities in breast cancer—from population-level screening to individualized molecular profiling—and to examine how integrative, multimodal diagnostic platforms are reshaping clinical decision-making in the era of precision medicine. Full article

(This article belongs to the Section Clinical Diagnosis and Prognosis)

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10 pages, 4344 KB

Open AccessCase Report

ClinGen Bayesian-Framework-Guided Interpretation of Compound Heterozygous F12 Variants in a Pregnant Woman with Factor XII Deficiency: A Case Report

by Kyung Sun Park and Ha-eun Cho

Diagnostics 2026, 16(8), 1180; https://doi.org/10.3390/diagnostics16081180 - 16 Apr 2026

Abstract

Background and Clinical Significance: Isolated prolongation of activated partial thromboplastin time (aPTT) without a bleeding tendency presents a frequent diagnostic challenge and often leads to prolonged, inconclusive evaluations. Case Presentation: We report the case of a pregnant woman with long-standing isolated aPTT prolongation [...] Read more.

Background and Clinical Significance: Isolated prolongation of activated partial thromboplastin time (aPTT) without a bleeding tendency presents a frequent diagnostic challenge and often leads to prolonged, inconclusive evaluations. Case Presentation: We report the case of a pregnant woman with long-standing isolated aPTT prolongation in whom clinical exome sequencing enabled a definitive diagnosis. Two compound heterozygous variants in F12 were identified: NM_000505.4:c.1561G>A, p.(Glu521Lys), previously reported in Factor XII deficiency, and a novel in-frame insertion, NM_000505.4:c.1423_1425dup, p.(Cys475dup), absent from population databases and the prior literature. Familial genetic testing confirmed a trans configuration. Factor XII activity was markedly reduced to 1%, and mixing studies showed complete correction, consistent with coagulation factor deficiency without inhibitors. Variant interpretation using ClinGen specifications within a Bayesian framework classified both variants as likely pathogenic. Despite significant laboratory abnormalities, the patient experienced no bleeding or thrombotic complications and underwent cesarean delivery without adverse events. Conclusions: This case highlights that early integration of next-generation sequencing and quantitative variant interpretation frameworks can facilitate timely diagnosis, clarify clinical significance, and support appropriate management in patients with unexplained isolated aPTT prolongation. Full article

(This article belongs to the Special Issue Opportunities in Laboratory Medicine in the Era of Genetic Testing)

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12 pages, 1644 KB

Open AccessArticle

Injury Patterns in Resuscitated Non-Traumatic Cardiac Arrest Patients—A Comparative CT Analysis Between Automated Chest Compression Devices

by Simon Viniol, Lennart Scholand, Alexander König, Susanne Betz and Michael Scheschenja

Diagnostics 2026, 16(8), 1179; https://doi.org/10.3390/diagnostics16081179 - 16 Apr 2026

Abstract

Objectives: The aim of this study was to determine differences in injury types and frequencies between piston-based and band-based automated chest compression devices in patients with non-traumatic out-of-hospital cardiac arrest (OHCA) at a German cardiac arrest center. Methods: This retrospective single-center [...] Read more.

Objectives: The aim of this study was to determine differences in injury types and frequencies between piston-based and band-based automated chest compression devices in patients with non-traumatic out-of-hospital cardiac arrest (OHCA) at a German cardiac arrest center. Methods: This retrospective single-center study assessed resuscitation-related injuries in OHCA patients using protocol-based early whole-body CT scans at hospital admission. CT scans were reviewed independently by two reviewers blinded to the compression device used. Between May 2015 and September 2021, all patients resuscitated from non-traumatic OHCA, treated with a mechanical chest compression device, and showing stable return of spontaneous circulation (ROSC) until CT examination according to the institutional standard operating procedure for all OHCA patients were included. Patients were categorized by compression device type, and group differences were analyzed using the Chi-square test and Mann–Whitney U test. In addition, patient-level incidences of rib fracture types were calculated, and risk ratios with corresponding 95% confidence intervals were used to compare rib fracture patterns between groups. A p-value of <0.05 was considered statistically significant. Results: Among 71 patients, 32 received band-based and 39 piston-based treatment. Both groups were comparable in resuscitation duration, body constitution, and gender ratio, although the band-based group was older. Thoracic injuries predominated, with rib fractures representing the most frequent injury pattern (64/71, 90.1%). The median number of rib fractures per patient was 10 (IQR 8–12) in the band-based group and 9 (IQR 7–12) in the piston-based group. The band-based group had significantly more liver lacerations (5/32, 15.6% vs. 0/39, 0%; p = 0.01) and displaced rib fractures (117 vs. 87; p = 0.046; patient-level RR = 1.43, 95% CI 1.06–1.93). Conclusions: In this observational study of a CT-based cohort of OHCA patients with stable ROSC, the band-based device was associated with significantly higher frequencies of liver lacerations and displaced rib fractures than the piston-based device. These findings should be interpreted as hypothesis-generating and may support further evaluation of device-specific injury profiles in future studies. Full article

(This article belongs to the Special Issue Emergency Medicine: Diagnostic Insights)

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16 pages, 15962 KB

Open AccessArticle

SKUF Protocol: Slice, Keep, Unwrap, Fuse—A Pilot Multimodal Approach to Cardiac Innervation Mapping

by Igor Makarov, Olga Solovyova, Anna Starshinova, Dmitry Kudlay and Lubov Mitrofanova

Diagnostics 2026, 16(8), 1178; https://doi.org/10.3390/diagnostics16081178 - 16 Apr 2026

Abstract

Background/Objective: Cardiac innervation plays a critical role in regulating myocardial function and enabling the heart to adapt to physiological and pathological conditions. Although the general features of sympathetic and parasympathetic innervation of the myocardium are well described, the spatial organisation of [...] Read more.

Background/Objective: Cardiac innervation plays a critical role in regulating myocardial function and enabling the heart to adapt to physiological and pathological conditions. Although the general features of sympathetic and parasympathetic innervation of the myocardium are well described, the spatial organisation of nerve fibres within the cardiac muscle remains incompletely characterised. This study aimed to develop and validate the SKUF (Slice–Keep–Unwrap–Fuse) protocol, a multimodal framework for mapping myocardial innervation through the integration of histological data and magnetic resonance imaging (MRI). Methods: The study was performed on the heart of a 7-year-old patient who died from rupture of a cerebral vascular malformation without evidence of cardiovascular disease. Prior to histological processing, post-mortem MRI was performed to provide a precise anatomical reference. The heart was sectioned into sequential transverse rings of 4 mm thickness, yielding 71 paraffin blocks. Histological sections (3 μm) were immunostained with antibodies against UCHL-1 to visualise nerve fibres and scanned using an Aperio AT2 system (20× magnification). Automated image analysis was conducted using the SVSSlide Processor module, which included tissue segmentation, colour-based nerve fibre detection, and sliding-window density mapping. Heatmaps were assembled into ring-based myocardial reconstructions and co-registered with MRI slices using combined rigid and deformable registration, followed by three-dimensional reconstruction of innervation patterns. Results: A higher density of nerve fibres was observed in the right ventricular myocardium compared with the left ventricle, whereas larger nerve trunks were identified in the epicardium of the left ventricle. Quantitative analysis revealed a pronounced longitudinal gradient of innervation, with minimal density in the apical region and progressive increases towards the mid-ventricular segments, where maximal density and spatial organisation of neural structures were observed. The atrioventricular groove exhibited the greatest heterogeneity of innervation due to the presence of large nerve trunks and ganglionated plexuses. Integration of histological maps with MRI enabled three-dimensional visualisation of spatial clusters of nerve fibres. Conclusions: The SKUF protocol provides a robust framework for integrating histological and MRI data to generate three-dimensional maps of myocardial innervation. This approach may facilitate the development of high-resolution anatomical atlases of cardiac innervation and support future studies of neurocardiac mechanisms of arrhythmogenesis and targeted neuromodulation. Full article

(This article belongs to the Special Issue Advances in Cardiovascular Diseases: Diagnosis and Management)

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2 pages, 145 KB

Open AccessCorrection

Correction: Urbano et al. Comparison of Serum and Cerebrospinal Fluid Neurofilament Light Chain Concentrations Measured by Ella™ and Lumipulse™ in Patients with Cognitive Impairment. Diagnostics 2024, 14, 2408

by Teresa Urbano, Riccardo Maramotti, Manuela Tondelli, Chiara Gallingani, Chiara Carbone, Najara Iacovino, Giulia Vinceti, Giovanna Zamboni, Annalisa Chiari and Roberta Bedin

Diagnostics 2026, 16(8), 1177; https://doi.org/10.3390/diagnostics16081177 - 16 Apr 2026

Abstract

In the original publication [...] Full article

(This article belongs to the Special Issue Assessment and Diagnosis of Cognitive Disorders)

19 pages, 1434 KB

Open AccessArticle

A Hybrid Model for Ultrasound Image-Based Breast Cancer Diagnosis Using EfficientNet-V2 and Vision Transformer

by Zainab Qahtan Mohammed, Amel Tuama Alhussainy, Ihsan Salman Jasim and Asraf Mohamed Moubark

Diagnostics 2026, 16(8), 1176; https://doi.org/10.3390/diagnostics16081176 - 15 Apr 2026

Abstract

Background/Objectives: Breast cancer continues to be one of the most serious and common afflictions affecting women around the globe. Despite ultrasound imaging being an effective method for the detection of abnormalities in dense breast tissues, there are a number of drawbacks when [...] Read more.

Background/Objectives: Breast cancer continues to be one of the most serious and common afflictions affecting women around the globe. Despite ultrasound imaging being an effective method for the detection of abnormalities in dense breast tissues, there are a number of drawbacks when utilizing this method, including the subjective nature of the imaging and the variant nature of the imaging due to the cognitive biases of the interpreting expert and the experience of the interpreting expert. The above factors are the cause of the increased need in the implementation of AI-driven models for diagnostic analysis. In this research, we provide a hybrid deep learning-based framework for cancer classification of the breast cancer ultrasound image dataset (‘BUSI dataset’). Methods: The contributing models of the proposed architecture involve the combination of a light ViT encoder and an EfficientNetV2-RW-S feature extractor. The combination mentioned leverage the positive sensitivities of the convolutional neural networks (CNNs) and the global reasoning neural networks (i.e., transformers) in the explanation of the architecture. The reason being, EfficientNetV2 diminishes the capture of the fine-grained morphological components of the lesions, edges, and echogenic variances of the tissue, whereas the transformer model diminishes the long-range dependencies of the lesions and other surrounding tissues. Results: The experimental results from the proposed hybrid model of the architecture demonstrates an enhanced classification accuracy of 97.95%, in contrast to the self-standing models of the architecture, the hybrid model supersedes the isolated ViT model (i.e., 89%) and the isolated CNN model (i.e., 80%) frameworks. Furthermore, the proposed model hybrid architecture also diminishes the overall self-attention computational complexity of the proposed model by substantially diminishing the number of tokens reaching an overall count of 10 (from the vast 197 tokens). This further leads to a substantial decrease in the memory and cost expended during the attention processes. Conclusion: Overall, this study proposes a method for the improved diagnostic and computational analysis, suggesting the proposed architecture to be a potential framework for use in the contemporary clinical environments. Full article

(This article belongs to the Special Issue The Role of AI in Ultrasound, 2nd Edition)

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