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Diagnostics, Volume 15, Issue 13 (July-1 2025) – 159 articles

Cover Story (view full-size image): Peripheral nerve injuries represent a significant challenge in legal medicine, and their proper management and evaluation are at the intersection of clinical medicine, anatomical science, and legal medicine. In this review, we aimed to integrate current knowledge about the anatomy, physiology, clinical management, and paraclinical assessment of peripheral nerve injuries, targeted explicitly for medical–legal practice. We conducted a comprehensive review of the medical–legal evaluation framework needed to evaluate peripheral nerve injuries, with particular emphasis on anatomical variations, imaging techniques, and methods to assess the timing of injury. View this paper
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17 pages, 1532 KiB  
Article
RADAI: A Deep Learning-Based Classification of Lung Abnormalities in Chest X-Rays
by Hanan Aljuaid, Hessa Albalahad, Walaa Alshuaibi, Shahad Almutairi, Tahani Hamad Aljohani, Nazar Hussain and Farah Mohammad
Diagnostics 2025, 15(13), 1728; https://doi.org/10.3390/diagnostics15131728 - 7 Jul 2025
Viewed by 266
Abstract
Background: Chest X-rays are rapidly gaining prominence as a prevalent diagnostic tool, as recognized by the World Health Organization (WHO). However, interpreting chest X-rays can be demanding and time-consuming, even for experienced radiologists, leading to potential misinterpretations and delays in treatment. Method: The [...] Read more.
Background: Chest X-rays are rapidly gaining prominence as a prevalent diagnostic tool, as recognized by the World Health Organization (WHO). However, interpreting chest X-rays can be demanding and time-consuming, even for experienced radiologists, leading to potential misinterpretations and delays in treatment. Method: The purpose of this research is the development of a RadAI model. The RadAI model can accurately detect four types of lung abnormalities in chest X-rays and generate a report on each identified abnormality. Moreover, deep learning algorithms, particularly convolutional neural networks (CNNs), have demonstrated remarkable potential in automating medical image analysis, including chest X-rays. This work addresses the challenge of chest X-ray interpretation by fine tuning the following three advanced deep learning models: Feature-selective and Spatial Receptive Fields Network (FSRFNet50), ResNext50, and ResNet50. These models are compared based on accuracy, precision, recall, and F1-score. Results: The outstanding performance of RadAI shows its potential to assist radiologists to interpret the detected chest abnormalities accurately. Conclusions: RadAI is beneficial in enhancing the accuracy and efficiency of chest X-ray interpretation, ultimately supporting the timely and reliable diagnosis of lung abnormalities. Full article
(This article belongs to the Section Machine Learning and Artificial Intelligence in Diagnostics)
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13 pages, 933 KiB  
Article
Bisphosphonate Use and Cardiovascular Outcomes According to Kidney Function Status in Post-Menopausal Women: An Emulated Target Trial from the Multi-Ethnic Study of Atherosclerosis
by Elena Ghotbi, Nikhil Subhas, Michael P. Bancks, Sammy Elmariah, Jonathan L. Halperin, David A. Bluemke, Bryan R Kestenbaum, R. Graham Barr, Wendy S. Post, Matthew Budoff, João A. C. Lima and Shadpour Demehri
Diagnostics 2025, 15(13), 1727; https://doi.org/10.3390/diagnostics15131727 - 7 Jul 2025
Viewed by 183
Abstract
Background/Objectives: Bisphosphonates may influence vascular calcification and atheroma formation via farnesyl pyrophosphate synthase inhibition in the mevalonate pathway regulating bone and lipid metabolism. However, the clinical impact of NCB use on cardiovascular outcomes remains uncertain, largely due to methodological heterogeneity in prior studies. [...] Read more.
Background/Objectives: Bisphosphonates may influence vascular calcification and atheroma formation via farnesyl pyrophosphate synthase inhibition in the mevalonate pathway regulating bone and lipid metabolism. However, the clinical impact of NCB use on cardiovascular outcomes remains uncertain, largely due to methodological heterogeneity in prior studies. We aimed to evaluate the association between nitrogen-containing bisphosphonate (NCB) therapy and coronary artery calcium (CAC) progression, as well as the incidence of cardiovascular disease (CVD) and coronary heart disease (CHD) events. Methods: From 6814 participants in MESA Exam 1, we excluded males (insufficient male NCB users in the MESA cohort), pre-menopausal women, baseline NCB users, and users of hormone replacement therapy, raloxifene, or calcitonin. Among 166 NCB initiators and 1571 non-users with available CAC measurements, propensity score matching was performed using the available components of FRAX, namely age, race, BMI, LDL cholesterol, alcohol, smoking, and steroid use, and baseline CAC yielded 165 NCB initiators matched to 473 non-users (1:3 ratio). Linear mixed-effects models evaluated CAC progression, and Cox models analyzed incident CVD and CHD events. Results: In the overall cohort, NCB use was not significantly associated with CAC progression (annual change: −0.01 log Agatston units; 95% CI: −0.05 to 0.01). However, among participants with a baseline estimated glomerular filtration rate (eGFR) < 65 mL/min/1.73 m2, NCB use was associated with attenuated CAC progression compared with non-users (−0.06 log Agatston units/year; 95% CI: −0.12 to −0.007). No significant association was observed between NCB use and incident CVD events in the overall cohort (HR: 0.90; 95% CI: 0.60−1.36) or within kidney function subgroups. Conclusions: Incident NCB use among postmenopausal women with mild or no CAC at baseline was associated with reduced CAC progression only in women with impaired kidney function. However, this association did not correspond to a decreased risk of subsequent cardiovascular events, suggesting that the observed imaging benefit may not translate into meaningful clinical association. Full article
(This article belongs to the Special Issue Diagnosis and Management of Cardiovascular Diseases)
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9 pages, 1417 KiB  
Review
Pressure Gradient-Driven Embolization b-TACE for HCC: Technical and Diagnostic Step-by-Step Procedural Guide and Literature Review
by Bianca Rocco, David C. Madoff, Fabrizio Basilico, Elio Damato, Paolo Vetri, Valeria Panebianco, Carlo Catalano and Pierleone Lucatelli
Diagnostics 2025, 15(13), 1726; https://doi.org/10.3390/diagnostics15131726 - 7 Jul 2025
Viewed by 240
Abstract
Background: Hepatocellular carcinoma (HCC) is one of the leading cause of cancer death worldwide. Transarterial therapies represent an important tool in the management of different clinical scenarios, from a patient with a single nodule to a patient with multinodular disease. Up to 30% [...] Read more.
Background: Hepatocellular carcinoma (HCC) is one of the leading cause of cancer death worldwide. Transarterial therapies represent an important tool in the management of different clinical scenarios, from a patient with a single nodule to a patient with multinodular disease. Up to 30% of patients are diagnosed with intermediate-stage HCC, and transarterial chemoembolization (TACE) represents the mainstay of treatment. Overall survival in patients with HCC undergoing TACE is strongly influenced by obtaining a sustained complete response, which is strongly affected by the HCC’s dimension. Methods: Pressure gradient-driven embolization, achieved by employing a microballoon catheter in the balloon-occluded TACE (bTACE), represents the most novel innovation in the field of transarterial therapies in the last decade. In fact, bTACE, thanks to its ability to redistribute flow towards tumor territories, can allow higher chemotherapeutic drug concentrations, leading to better oncological performance, especially in patients in which standard TACE struggles to obtain a complete response. Conclusions: This technical and diagnostic intraprocedural step-by-step guide, discussed with a review of the existing literature, will enable readers to achieve an optimal procedure and to convey to their patients the full clinical benefits of these procedures. Full article
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10 pages, 205 KiB  
Article
The Effect of Intrauterine Device Use on the Quality of Sampling Material in Patients Undergoing Endometrial Biopsy
by Hüseyin Aksoy, Mehmet Çopuroğlu, Mehmet Genco, Merve Genco and Mürüvet Korkmaz Baştürk
Diagnostics 2025, 15(13), 1725; https://doi.org/10.3390/diagnostics15131725 - 7 Jul 2025
Viewed by 200
Abstract
Objective: This retrospective study aims to evaluate the effect of copper intrauterine device (Cu-IUD) use on the adequacy and diagnostic quality of endometrial biopsy specimens in women with abnormal uterine bleeding (AUB). Patients with levonorgestrel-releasing intrauterine systems (LNG-IUS, e.g., Mirena) were excluded from [...] Read more.
Objective: This retrospective study aims to evaluate the effect of copper intrauterine device (Cu-IUD) use on the adequacy and diagnostic quality of endometrial biopsy specimens in women with abnormal uterine bleeding (AUB). Patients with levonorgestrel-releasing intrauterine systems (LNG-IUS, e.g., Mirena) were excluded from the study. The study compares the histopathological adequacy of endometrial samples between Cu-IUD users and non-users, highlighting potential interpretation challenges in routine pathological assessment. Methods: The study was conducted on 409 women aged 25–55 who presented with abnormal uterine bleeding (AUB) to the Gynecology and Obstetrics Outpatient Clinic at Kayseri City Hospital between 1 April 2021 and 1 April 2023. The patients were divided into two groups: copper IUD (Cu-IUD) users (n = 215) and non-IUD users (n = 194). Patients using levonorgestrel-releasing intrauterine systems (LNG-IUS, e.g., Mirena) were excluded from the study. Endometrial biopsies were obtained using the Pipelle curette technique without anesthesia, preserved in 10% formalin, and assessed for pathological classification and diagnostic adequacy. Results: The proportion of unclassifiable pathological categories was significantly higher in copper IUD users (63.93%) compared to non-IUD users (36.05%) (p = 0.013). Additionally, a negative correlation was observed between pathological category and endometrial thickness (r = −0.3147, p < 0.001), suggesting that thinner endometrial lining may reflect atrophic or diagnostically ambiguous tissue patterns. However, no significant association was found between IUD use and endometrial thickness (p = 0.073). Conclusions: The findings indicate that copper IUD use may affect the diagnostic adequacy of endometrial biopsy specimens, likely due to inflammatory or structural changes in the endometrium. These results underline the importance of considering IUD-related alterations when interpreting biopsy findings. Further research is needed to refine diagnostic approaches and better understand the clinical implications of these effects. Full article
(This article belongs to the Section Pathology and Molecular Diagnostics)
18 pages, 1297 KiB  
Article
Changing Etiological Spectrum of Premature Ovarian Insufficiency over the Past Decades: A Comparative Analysis of Two Cohorts from a Single Center
by Szilvia Csehely, Adrienn Kun, Edina Orbán, Tamás Katona, Mónika Orosz, Zoárd Tibor Krasznai, Tamás Deli and Attila Jakab
Diagnostics 2025, 15(13), 1724; https://doi.org/10.3390/diagnostics15131724 - 6 Jul 2025
Viewed by 288
Abstract
Background: Premature ovarian insufficiency (POI) is a complex and heterogeneous condition affecting women of reproductive age. Historically, most POI cases have been classified as idiopathic due to limited diagnostic capabilities. However, due to the success of oncologic treatments and the increasing number [...] Read more.
Background: Premature ovarian insufficiency (POI) is a complex and heterogeneous condition affecting women of reproductive age. Historically, most POI cases have been classified as idiopathic due to limited diagnostic capabilities. However, due to the success of oncologic treatments and the increasing number of gynecologic surgeries enabled by improved diagnostics, the proportion of iatrogenic POI cases has risen substantially. Objectives: To investigate the current prevalence of POI etiologies, to compare the etiological distribution between two POI cohorts from a single tertiary center—one historical (1978–2003) and one contemporary (2017–2024)—and to explore how the spectrum of underlying causes has changed over the past four decades. Methods: Data from 111 women diagnosed with POI between 2017 and 2024 were retrospectively reviewed and compared with those from a historical cohort of 172 patients. Etiologies were classified as genetic, autoimmune, iatrogenic, or idiopathic. Statistical comparisons were performed using chi-square and z-tests. Hormonal profiles and reproductive outcomes were also analyzed. Results: The current prevalence of POI etiologies is as follows: genetic 9.9%, autoimmune 18.9%, iatrogenic 34.2%, idiopathic 36.9%. In the historical POI cohort, etiologies were classified as genetic in 11.6%, autoimmune in 8.7%, iatrogenic in 7.6%, and idiopathic in 72.1%. The changes in the prevalence of autoimmune, iatrogenic, and idiopathic POI were statistically significant (p < 0.05). Reproductive outcomes remained limited: 10 pregnancies occurred in each cohort, with 7 live births in the contemporary group. Conclusions: Our findings suggest a significant shift in the etiological landscape of POI, with a notable, more than fourfold rise in identifiable iatrogenic cases and a twofold increase in the autoimmune group, resulting in a halving of idiopathic POI. Prevalence of genetic etiology remained unchanged. While diagnostic capabilities have improved, reproductive outcomes remain largely unchanged and suboptimal. Full article
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16 pages, 1322 KiB  
Article
Perioperative Risk Prediction in Major Gynaecological Oncology Surgery: A National Diagnostic Survey of UK Clinical Practice
by Lusine Sevinyan, Anil Tailor, Pradeep Prabhu, Peter Williams, Melanie Flint and Thumuluru Kavitha Madhuri
Diagnostics 2025, 15(13), 1723; https://doi.org/10.3390/diagnostics15131723 - 6 Jul 2025
Viewed by 258
Abstract
Background: Gynaecological oncology (GO) surgery involves a wide range of procedures, from minor diagnostic interventions to highly complex cytoreductive operations. Accurate perioperative diagnostics—particularly in major surgery—are critical to optimise patient care, predict morbidity, and facilitate shared decision-making. This study aimed to evaluate [...] Read more.
Background: Gynaecological oncology (GO) surgery involves a wide range of procedures, from minor diagnostic interventions to highly complex cytoreductive operations. Accurate perioperative diagnostics—particularly in major surgery—are critical to optimise patient care, predict morbidity, and facilitate shared decision-making. This study aimed to evaluate current practices in perioperative risk assessment amongst UK GO specialists, focusing on the use, perception, and applicability of diagnostic risk prediction tools. Methods: A national multicentre survey was distributed via the British Gynaecological Cancer Society (BGCS) to consultants, trainees, and nurse specialists. The questionnaire examined clinician familiarity with and use of existing tools such as POSSUM, P-POSSUM, and ACS NSQIP, as well as perceived reliability and areas for improvement. Results: Fifty-four clinicians responded, two-thirds of whom were consultant gynaecological oncologists. While 51.9% used morbidity prediction tools selectively, only 7.4% used them routinely for all major surgeries. The most common models were P-POSSUM (39.6%) and ACS NSQIP (25%), though over 20% did not use any formal tool. Despite this, 80% of respondents expressed a desire for more accurate, GO-specific models. Conclusions: This study reveals a gap between available perioperative diagnostics and real-world clinical use in GO surgical planning. There is an urgent need for validated, user-friendly, and GO-specific risk prediction tools—particularly for high-risk, complex surgical cases. Further research should focus on prospective validation of tools such as ACS NSQIP and their integration into routine practice to improve outcomes in gynaecological oncology. Full article
(This article belongs to the Special Issue New Insights into the Diagnosis of Gynecological Diseases)
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15 pages, 2598 KiB  
Case Report
Two Cases of Chronic Tubular Necrosis Presenting as Fanconi Syndrome Induced by Red Yeast Rice Choleste-Help
by Kanako Mita, Shunsuke Takahashi, Satoshi Yanagida, Akihiro Aoyama, Takayuki Shiraishi, Takayuki Hamada, Yumiko Nakamura, Mariko Sato, Kento Hirose, Ryo Yamamoto, Yuya Shioda, Kaori Takayanagi, Izumi Nagayama, Yuko Ono, Hajime Hasegawa and Akito Maeshima
Diagnostics 2025, 15(13), 1722; https://doi.org/10.3390/diagnostics15131722 - 6 Jul 2025
Viewed by 260
Abstract
Background and Clinical Significance: Although dietary supplements have often been deemed safe, some have been linked to drug-induced nephropathy due to their diverse ingredients. The aim of this report is to enhance clinical awareness of a novel and emerging cause of Fanconi syndrome [...] Read more.
Background and Clinical Significance: Although dietary supplements have often been deemed safe, some have been linked to drug-induced nephropathy due to their diverse ingredients. The aim of this report is to enhance clinical awareness of a novel and emerging cause of Fanconi syndrome due to red yeast rice supplements and to contribute new histopathological and clinical data. Case Presentation: We report two cases of renal dysfunction and Fanconi syndrome associated with the use of red yeast rice supplements. Both patients presented with renal impairment accompanied by elevated markers of tubular injury, hypouricemia, hypokalemia, and glucosuria, consistent with Fanconi syndrome. Following the discontinuation of the red yeast rice supplement and initiation of steroid therapy, Fanconi syndrome resolved, however, moderate renal dysfunction persisted. Urinary NGAL levels improved after treatment in both cases. KIM-1 normalized in one case but remained elevated in the other. Uromodulin recovery was complete in one case and partial in the other. Renal biopsy revealed mild tubulointerstitial nephritis, with notable shedding of proximal tubular epithelial cells. Immunohistochemical analysis demonstrated reduced expression of URAT-1, Na-K ATPase, and Na-Pi IIa in some tubules. Conclusions: These findings suggest that renal injury induced by red yeast rice supplements is mediated by direct proximal tubular necrosis caused by a harmful substance in the supplement, resulting in persistence of tubular dysfunction. Full article
(This article belongs to the Special Issue Kidney Disease: Biomarkers, Diagnosis, and Prognosis: 3rd Edition)
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12 pages, 1407 KiB  
Article
Radix Entomolaris and Complex Incisor Anatomy in a Saudi Cohort: A Retrospective Study
by Mubashir Baig Mirza
Diagnostics 2025, 15(13), 1721; https://doi.org/10.3390/diagnostics15131721 - 6 Jul 2025
Viewed by 235
Abstract
Background/Objectives: A thorough understanding of tooth anatomy is essential for effective root canal treatment. This study aims to investigate the root canal morphology of mandibular incisors (MIs) and the presence of distolingual roots in mandibular first molars (MFMs) and to explore the potential [...] Read more.
Background/Objectives: A thorough understanding of tooth anatomy is essential for effective root canal treatment. This study aims to investigate the root canal morphology of mandibular incisors (MIs) and the presence of distolingual roots in mandibular first molars (MFMs) and to explore the potential correlation between these anatomical variations. Methods: A total of 562 CBCT scans were retrospectively analyzed, corresponding to 1124 mandibular central incisors (MCIs), mandibular lateral incisors (MLIs), and MFMs each. The DLR in MFMs was correlated with the complex anatomy in MIs and analyzed using a chi-square test, with the odds ratio obtained through binary regression analysis. Differences related to gender, site, and age were analyzed using the chi-square test. Results: Most MI scans revealed Vertucci Type I canal morphology, with a higher percentage in MCIs (71.1%) than MLIs (64.9%). Additionally, 5.25% of MFM scans indicated a DLR, with a higher prevalence in males (3.5%) and younger individuals (3.4%); however, a statistically significant difference was observed only in MCIs (p = 0.035) across different age groups. The study also identified a highly significant difference in complex canal anatomy, comparing both MIs on either side and the presence of DLR in MFMs (p < 0.001). Furthermore, the relationship between complex canal systems in MIs and MFMs with DLR was confirmed. Conclusions: In conclusion, the Vertucci Type I canal configuration was predominant in both MIs, followed by Type III. The DLR was present in 5.25% of the total scans, and its presence strongly correlated with complex morphology in both MIs. Full article
(This article belongs to the Special Issue Advances in Dental Imaging)
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10 pages, 1137 KiB  
Article
Assessing the Reliability of D-Dimer Measurement in EDTA Plasma: A Comparison to the Established Citrate Method
by Daniel Pfingst, Adriana Méndez, Peter Neyer, Henning Nilius, Nicole Schaub, Patricia Keusch, Michael Nagler and Angelika Hammerer-Lercher
Diagnostics 2025, 15(13), 1720; https://doi.org/10.3390/diagnostics15131720 - 6 Jul 2025
Viewed by 248
Abstract
Background: D-dimer determined in citrated plasma is a well-established and efficient biomarker, particularly for ruling out venous thromboembolism. In certain clinical settings, the availability of citrated plasma may pose challenges when not readily available. To address this issue, we investigated the feasibility of [...] Read more.
Background: D-dimer determined in citrated plasma is a well-established and efficient biomarker, particularly for ruling out venous thromboembolism. In certain clinical settings, the availability of citrated plasma may pose challenges when not readily available. To address this issue, we investigated the feasibility of using ethylenediaminetetraacetic acid (EDTA) plasma as an alternative specimen for D-dimer measurement. Methods: Our study evaluated anonymized plasma samples (n = 99, for both citrate and EDTA) using the INNOVANCE® D-dimer assay, an automated particle-enhanced immunoassay, and the INNOVANCE® LOCI hs D-dimer assay, leveraging the luminescent oxygen channeling assay (LOCI) method. Results: The assays demonstrated a correlation of r ≥ 0.97 (95% CI 0.96 to 0.98) within citrated plasma and maintained a similar correlation r ≥ 0.96 (95% CI 0.94 to 0.97) between citrate and EDTA plasma upon correction for the dilution effect of the sodium citrate solution. Conclusions: These results indicate that the utilization of EDTA instead of citrate plasma is feasible and may provide similar diagnostic information. However, the observed variance could have an impact on clinical interpretation and risk assessment. Therefore, future studies are needed to confirm the results and, if necessary, determine cut-off values and clinical performance. Full article
(This article belongs to the Section Clinical Laboratory Medicine)
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16 pages, 1105 KiB  
Article
Variability of Metabolic Rate and Distribution Volume Quantification in Whole-Body Parametric PATLAK [18F]-FDG PET/CT—A Prospective Trial in Patients with Lung Cancer
by Stephan Ursprung, Lars Zender, Patrick Ghibes, Florian Hagen, Konstantin Nikolaou, Christian la Fougère and Matthias Weissinger
Diagnostics 2025, 15(13), 1719; https://doi.org/10.3390/diagnostics15131719 - 5 Jul 2025
Viewed by 247
Abstract
Background: The recent introduction of whole-body positron emission tomography/ computed tomography (PET/CT) scanners and multi-bed, multi-time point acquisition technique enable calculating fluorodeoxyglucose (FDG) kinetics in the whole body. However, validating parametric, Patlak-derived data is difficult on phantoms. Methods: This prospective study [...] Read more.
Background: The recent introduction of whole-body positron emission tomography/ computed tomography (PET/CT) scanners and multi-bed, multi-time point acquisition technique enable calculating fluorodeoxyglucose (FDG) kinetics in the whole body. However, validating parametric, Patlak-derived data is difficult on phantoms. Methods: This prospective study investigated the effect of quantification methods mean, max, and peak on the metabolic rate (MR-FDG) and distribution volume (DV-FDG) quantification, as well as the diagnostic accuracy of parametric Patlak FDG-PET scans in diagnosing lung lesions and lymph node metastases, using histopathology and follow-up as reference standards. Dynamic whole-body FDG PET was acquired for 80 minutes in 34 patients with indeterminate lung lesions and kinetic parameters extracted from lung lesions and representative mediastinal and hilar lymph nodes. Results: All quantification methods—mean, max, and peak—demonstrated high diagnostic accuracy (AUC: MR-FDG: 0.987–0.991 and 0.893–0.905; DV-FDG: 0.948–0.975 and 0.812–0.825) for differentiating benign from malignant lymph nodes and lung lesions. Differences in the magnitude of MR-FDG (−4.76–14.09) and DV-FDG (−10.64–46.10%) were substantial across methods. Variability was more pronounced in lymph nodes (MR-FDG: 1.37–3.48) than in lung lesions (MR-FDG: 3.31–5.04). The variability was lowest between mean and max quantification, with percentage differences of 40.87 ± 5.69% for MR-FDG and 39.26 ± 7.68% for DV-FDG. Conclusions: The choice of method to measure MR-FDG and DV-FDG greatly influences the results, especially in smaller lesions with large and systematic differences. For lung lesions, a conversion factor between mean and max methods of 40% provides acceptable agreement, facilitating retrospective comparisons of measurements, e.g., in meta-analyses. Full article
(This article belongs to the Special Issue PET/CT Imaging in Oncology: Clinical Advances and Perspectives)
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5 pages, 5558 KiB  
Interesting Images
Durable Disease Control in Primary Pulmonary Sarcomatoid Carcinoma Following Pneumonectomy
by Cheng-Shiun Shiue, Chao-Chun Chang, Meng-Ta Tsai and Yu-Ning Hu
Diagnostics 2025, 15(13), 1718; https://doi.org/10.3390/diagnostics15131718 - 5 Jul 2025
Viewed by 238
Abstract
We report a 26-year-old male presenting with a chronic cough and hemoptysis. Imaging revealed a large hypermetabolic mass in the left lower lung with the invasion of adjacent great vessels. A biopsy confirmed sarcomatoid carcinoma, a rare and aggressive form of primary pulmonary [...] Read more.
We report a 26-year-old male presenting with a chronic cough and hemoptysis. Imaging revealed a large hypermetabolic mass in the left lower lung with the invasion of adjacent great vessels. A biopsy confirmed sarcomatoid carcinoma, a rare and aggressive form of primary pulmonary sarcoma. Due to vascular involvement, the patient underwent preoperative bronchial artery embolization followed by left pneumonectomy with pulmonary arterioplasty via median sternotomy. Postoperative recovery was uneventful. A two-year follow-up CT showed no recurrence. Primary pulmonary sarcomas are extremely rare, accounting for only 0.013–0.4% of lung malignancies, and are often diagnosed late due to nonspecific symptoms. This case highlights the importance of timely imaging, multidisciplinary planning, and aggressive surgical management in achieving long-term disease control, even in cases with extensive vascular invasion. Full article
(This article belongs to the Section Clinical Diagnosis and Prognosis)
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15 pages, 1809 KiB  
Article
A Prospective Randomized Study to Predict Bowel Preparation Quality Prior to Colonoscopy: Comparison of Two Stool Collection Methods for the Objective Assessment of Final Rectal Effluent Clarity
by Serdar Senol, Mustafa Kusak, Kevser Uzunoglu Yıldırım, Mustafa Gun and Mıne Gızem Bıdıl
Diagnostics 2025, 15(13), 1717; https://doi.org/10.3390/diagnostics15131717 - 5 Jul 2025
Viewed by 256
Abstract
Background/Objectives: Adequate bowel preparation is essential for high-quality colonoscopy. The clarity of the final rectal effluent can predict its sufficiency and guide additional preparation if necessary. For an objective and reliable clarity assessment, the stool collection method may be as important as [...] Read more.
Background/Objectives: Adequate bowel preparation is essential for high-quality colonoscopy. The clarity of the final rectal effluent can predict its sufficiency and guide additional preparation if necessary. For an objective and reliable clarity assessment, the stool collection method may be as important as the evaluation itself. This study was designed to compare the sensitivity of clarity assessments of effluent collected using two methods: a disposable cardboard bedpan with a white bag (Group I) and a 50 mL transparent plastic container (Group II). Methods: A prospective, single-center, randomized, comparative study was conducted between August 2024 and January 2025. Based on predefined criteria, 37 of 177 randomized patients were excluded, and 140 were analyzed. Results: Inadequate bowel preparation was correctly identified by a team member in 71% of Group I and 23% of Group II (p = 0.033). In adequate cases, the detection sensitivity was 88% and 85% (Groups I and II, respectively; p = 0.854). Significantly more patients in Group II either withdrew or failed to submit a photograph of the final rectal effluent. Patients’ verbal assessments did not differ significantly between the groups, regardless of bowel preparation quality. Conclusions: Patient self-assessment was an unreliable indicator of bowel cleanliness, highlighting the need for objective, standardized pre-colonoscopy evaluation methods. The use of a disposable cardboard bedpan with a white bag to collect the final rectal effluent may improve the accuracy of predicting inadequate preparation and patient compliance and may allow timely adjustments to bowel cleansing prior to colonoscopy in routine endoscopy practice. Full article
(This article belongs to the Section Clinical Diagnosis and Prognosis)
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11 pages, 1982 KiB  
Article
Adrenal Vein Sampling: The Role of a Diagnostic Inspiratory Contrast-Enhanced CT Scan in Interventional Planning
by Filip Njavro, Erin Kos, Karin Zibar Tomšić, Maja Prutki and Ana Marija Alduk
Diagnostics 2025, 15(13), 1716; https://doi.org/10.3390/diagnostics15131716 - 5 Jul 2025
Viewed by 257
Abstract
Background/Objectives: Adrenal vein sampling is the gold standard for differentiating between unilateral and bilateral primary aldosteronism and guiding treatment. This study evaluates the utility of inspiratory CT scans in interventional planning, specifically assessing the right adrenal vein visualization and positional discrepancies during [...] Read more.
Background/Objectives: Adrenal vein sampling is the gold standard for differentiating between unilateral and bilateral primary aldosteronism and guiding treatment. This study evaluates the utility of inspiratory CT scans in interventional planning, specifically assessing the right adrenal vein visualization and positional discrepancies during fluoroscopy. Methods: A retrospective analysis of 133 patients who underwent adrenal vein sampling was performed. Pre-procedural inspiratory CT scans were reviewed for visualization and location of the right adrenal vein using vertebral body levels as reference. The position of the right adrenal vein was then compared with the fluoroscopic findings during adrenal veins sampling. Results: The right adrenal vein was visualized on CT scans in 99.2% of patients. Cohen’s kappa demonstrated almost perfect agreement for both visualization of the right adrenal vein and position measurement. A median difference of three vertebral levels was observed between the level of the right adrenal vein on CT and fluoroscopy, with fluoroscopy showing a more cranial position in 91.7% of cases. Conclusions: Inspiratory CT scans visualize the right adrenal vein effectively and aid the planning of adrenal vein sampling. Understanding the positional discrepancies caused by respiratory motion is crucial for successful cannulation of the right adrenal vein, minimizing procedure time and contrast consumption and ultimately enhancing patient outcomes in the management of primary aldosteronism. Full article
(This article belongs to the Special Issue Abdominal Diseases: Diagnosis, Treatment and Management)
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12 pages, 812 KiB  
Article
Clinical Utility of Plasma Microbial Cell-Free DNA Surveillance in Neutropenic Patients with Acute Myeloid Leukemia Undergoing Outpatient Chemotherapy: A Case Series
by Maria Lampou, Elizabeth C. Trull, Hailey M. Warren, Musie S. Ghebremichael, Raja Nakka, Daniel J. Floyd, Amir T. Fathi, Andrew M. Brunner and Michael K. Mansour
Diagnostics 2025, 15(13), 1715; https://doi.org/10.3390/diagnostics15131715 - 5 Jul 2025
Viewed by 298
Abstract
Background/Objectives: The main objective of the study is to assess the clinical utility of microbial cell-free DNA (mcfDNA) in neutropenic patients diagnosed with acute myeloid leukemia (AML) undergoing chemotherapy in the outpatient setting. Neutropenia is a common complication in this patient cohort [...] Read more.
Background/Objectives: The main objective of the study is to assess the clinical utility of microbial cell-free DNA (mcfDNA) in neutropenic patients diagnosed with acute myeloid leukemia (AML) undergoing chemotherapy in the outpatient setting. Neutropenia is a common complication in this patient cohort and enhances the risk of fatal opportunistic bacterial and fungal infections. Accurate and timely diagnosis of these infections in outpatient asymptomatic individuals is critical. Methods: Fourteen patients were studied in this prospective observational case series. Traditional blood cultures (BCs) were obtained when clinically indicated and blood samples were collected for plasma mcfDNA metagenomic sequencing up to two times a week at outpatient oncology appointments. Results were compared in identifying potential infectious agents. Results: BCs identified pathogens in only two patients, despite several cases where infection was suspected. In contrast, mcfDNA testing detected pathogens in 11 of the 14 patients, including bacteria, such as Staphylococcus aureus, and invasive fungi, such as Candida and Aspergillus species, and Pneumocystis jirovecii. Conclusions: In the outpatient setting, mcfDNA surveillance offers a more reliable method for detecting pathogens. This approach identified actionable microbiologic results in immunocompromised individuals who did not meet standard clinical criteria for suspicion of infection. Further research is required to confirm the potential of mcfDNA surveillance in an outpatient setting to guide more accurate treatment decisions, reduce extensive clinical investigations, and improve neutropenic patient outcomes. Full article
(This article belongs to the Special Issue Recent Advances in Hematology and Oncology, 2nd Edition)
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24 pages, 974 KiB  
Review
Artificial Intelligence in Primary Malignant Bone Tumor Imaging: A Narrative Review
by Platon S. Papageorgiou, Rafail Christodoulou, Panagiotis Korfiatis, Dimitra P. Papagelopoulos, Olympia Papakonstantinou, Nancy Pham, Amanda Woodward and Panayiotis J. Papagelopoulos
Diagnostics 2025, 15(13), 1714; https://doi.org/10.3390/diagnostics15131714 - 4 Jul 2025
Viewed by 319
Abstract
Artificial Intelligence (AI) has emerged as a transformative force in orthopedic oncology, offering significant advances in the diagnosis, classification, and prediction of treatment response for primary malignant bone tumors (PBT). Through machine learning and deep learning techniques, AI leverages computational algorithms and large [...] Read more.
Artificial Intelligence (AI) has emerged as a transformative force in orthopedic oncology, offering significant advances in the diagnosis, classification, and prediction of treatment response for primary malignant bone tumors (PBT). Through machine learning and deep learning techniques, AI leverages computational algorithms and large datasets to enhance medical imaging interpretation and support clinical decision-making. The integration of radiomics with AI enables the extraction of quantitative features from medical images, allowing for precise tumor characterization and the development of personalized therapeutic strategies. Notably, convolutional neural networks have demonstrated exceptional capabilities in pattern recognition, significantly improving tumor detection, segmentation, and differentiation. This narrative review synthesizes the evolving applications of AI in PBTs, focusing on early tumor detection, imaging analysis, therapy response prediction, and histological classification. AI-driven radiomics and predictive models have yielded promising results in assessing chemotherapy efficacy, optimizing preoperative imaging, and predicting treatment outcomes, thereby advancing the field of precision medicine. Innovative segmentation techniques and multimodal imaging models have further enhanced healthcare efficiency by reducing physician workload and improving diagnostic accuracy. Despite these advancements, challenges remain. The rarity of PBTs limits the availability of robust, high-quality datasets for model development and validation, while the lack of standardized imaging protocols complicates reproducibility. Ethical considerations, including data privacy and the interpretability of complex AI algorithms, also warrant careful attention. Future research should prioritize multicenter collaborations, external validation of AI models, and the integration of explainable AI systems into clinical practice. Addressing these challenges will unlock AI’s full potential to revolutionize PBT management, ultimately improving patient outcomes and advancing personalized care. Full article
(This article belongs to the Section Machine Learning and Artificial Intelligence in Diagnostics)
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12 pages, 1493 KiB  
Article
Automatic Segmentation of the Infraorbital Canal in CBCT Images: Anatomical Structure Recognition Using Artificial Intelligence
by Ismail Gumussoy, Emre Haylaz, Suayip Burak Duman, Fahrettin Kalabalık, Muhammet Can Eren, Seyda Say, Ozer Celik and Ibrahim Sevki Bayrakdar
Diagnostics 2025, 15(13), 1713; https://doi.org/10.3390/diagnostics15131713 - 4 Jul 2025
Viewed by 216
Abstract
Background/Objectives: The infraorbital canal (IOC) is a critical anatomical structure that passes through the anterior surface of the maxilla and opens at the infraorbital foramen, containing the infraorbital nerve, artery, and vein. Accurate localization of this canal in maxillofacial, dental implant, and orbital [...] Read more.
Background/Objectives: The infraorbital canal (IOC) is a critical anatomical structure that passes through the anterior surface of the maxilla and opens at the infraorbital foramen, containing the infraorbital nerve, artery, and vein. Accurate localization of this canal in maxillofacial, dental implant, and orbital surgeries is of great importance to preventing nerve damage, reducing complications, and enabling successful surgical planning. The aim of this study is to perform automatic segmentation of the infraorbital canal in cone-beam computed tomography (CBCT) images using an artificial intelligence (AI)-based model. Methods: A total of 220 CBCT images of the IOC from 110 patients were labeled using the 3D Slicer software (version 4.10.2; MIT, Cambridge, MA, USA). The dataset was split into training, validation, and test sets at a ratio of 8:1:1. The nnU-Net v2 architecture was applied to the training and test datasets to predict and generate appropriate algorithm weight factors. The confusion matrix was used to check the accuracy and performance of the model. As a result of the test, the Dice Coefficient (DC), Intersection over the Union (IoU), F1-score, and 95% Hausdorff distance (95% HD) metrics were calculated. Results: By testing the model, the DC, IoU, F1-score, and 95% HD metric values were found to be 0.7792, 0.6402, 0.787, and 0.7661, respectively. According to the data obtained, the receiver operating characteristic (ROC) curve was drawn, and the AUC value under the curve was determined to be 0.91. Conclusions: Accurate identification and preservation of the IOC during surgical procedures are of critical importance to maintaining a patient’s functional and sensory integrity. The findings of this study demonstrated that the IOC can be detected with high precision and accuracy using an AI-based automatic segmentation method in CBCT images. This approach has significant potential to reduce surgical risks and to enhance the safety of critical anatomical structures. Full article
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16 pages, 20176 KiB  
Review
Magnetic Resonance Imaging in the Evaluation of the Stress System in Acute and Chronic Cardiac Disease
by George Markousis-Mavrogenis, Flora Bacopoulou, George Chrousos and Sophie I. Mavrogeni
Diagnostics 2025, 15(13), 1712; https://doi.org/10.3390/diagnostics15131712 - 4 Jul 2025
Viewed by 211
Abstract
Various cardiac pathologies such as ischemic/non-ischemic heart disease, valvular heart disease and genetic heart disease may impair cardiac function and lead to heart failure (HF). Each individual condition but also the common endpoint of HF may involve the brain and the immune system [...] Read more.
Various cardiac pathologies such as ischemic/non-ischemic heart disease, valvular heart disease and genetic heart disease may impair cardiac function and lead to heart failure (HF). Each individual condition but also the common endpoint of HF may involve the brain and the immune system next to the heart. The interaction of these systems plays an important role, particularly in the pathogenesis and prognosis of HF, and stress plays a pivotal role in this interaction. The stress system (SS) of the body can be activated by any stress factor exceeding a predefined threshold and all body structures including brain, heart and immune system can be affected. The SS is also responsible for body homeostasis. Both acute and chronic stress may lead to the development of acute and chronic heart disease. Magnetic Resonance Imaging (MRI) is the ideal noninvasive tool without radiation that can provide valuable information about the effect of the SS in various systems/organs using targeted protocols. A holistic approach provided by MRI has the potential to improve our knowledge regarding stress mechanisms on the axis of heart–brain–immune system in HF that may impact effective, individualized treatment. In this review paper, we describe how MRI can be used as a noninvasive tool to assess the effect of stress on the brain–immune system-heart-axis, discussing current possibilities, limitations and future directions. Full article
(This article belongs to the Special Issue Recent Advances in Diagnosis and Management of Heart Failure)
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16 pages, 996 KiB  
Review
The Sensory Gatekeeper of the Larynx: Anatomy and Clinical Importance of the Internal Branch of the Superior Laryngeal Nerve
by Alexandra Diana Vrapciu, Iulian Brezean, Răzvan Costin Tudose, Mugurel Constantin Rusu, George Triantafyllou and Maria Piagkou
Diagnostics 2025, 15(13), 1711; https://doi.org/10.3390/diagnostics15131711 - 4 Jul 2025
Viewed by 289
Abstract
The internal branch of the superior laryngeal nerve (IbSLN) plays a critical role in the sensory innervation of the supraglottic larynx. It is essential for protective reflexes such as coughing and swallowing. This nerve is frequently at risk during surgeries involving the cervical [...] Read more.
The internal branch of the superior laryngeal nerve (IbSLN) plays a critical role in the sensory innervation of the supraglottic larynx. It is essential for protective reflexes such as coughing and swallowing. This nerve is frequently at risk during surgeries involving the cervical region, including thyroidectomy, carotid endarterectomy, and anterior cervical spine procedures. Injury to the IbSLN may lead to postoperative complications. A comprehensive review of the morphological and topographic characteristics of the IbSLN is presented, focusing on its anatomical course, relationships with key vascular structures, branching patterns, and clinically significant variations. Full article
(This article belongs to the Special Issue Clinical Anatomy and Diagnosis of Peripheral Nervous System)
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13 pages, 1630 KiB  
Article
Alternation in Peripheral B Cell Subpopulations Is a Potential Biomarker for Autoimmune Diseases—A Cross-Sectional Study
by Shao-Wei Ku, Tzu-Hua Fu, Huey-Ling You, Yu-Jih Su and Wan-Ting Huang
Diagnostics 2025, 15(13), 1710; https://doi.org/10.3390/diagnostics15131710 - 4 Jul 2025
Viewed by 233
Abstract
Background: Although autoimmune diseases differ in their pathogenesis, B cells play a central role in many of them, and alterations in peripheral B cell subpopulations have been observed. Therefore, we aimed to explore the possibility of peripheral B cell subpopulations as a biomarker [...] Read more.
Background: Although autoimmune diseases differ in their pathogenesis, B cells play a central role in many of them, and alterations in peripheral B cell subpopulations have been observed. Therefore, we aimed to explore the possibility of peripheral B cell subpopulations as a biomarker for autoimmune diseases based on their alternation. Methods: We prospectively collected blood samples from 54 patients with various autoimmune diseases and 65 healthy controls. The percentages of B cell subpopulations were evaluated using flow cytometry. A scoring system was developed and the largest Youden’s index was used to determine the optimal cutoff point. Results: The frequencies of double-negative B cells and antibody-secreting cells were significantly higher in patients than in controls (median: 2.9% vs. 1.5%, p < 0.001; median: 3.6% vs. 2.1%, p = 0.001, respectively). Among the patients, those with systemic lupus erythematosus showed the most impact on the alteration of peripheral B cell subpopulations, which was correlated with disease activity. Furthermore, the scoring system effectively distinguished patients from healthy controls. The area under the receiver operating characteristic curves was 0.752 (95% confidence interval: 0.664–0.840), and the optimal cutoff value of ≥10 points yielded a sensitivity and specificity of 70.4% and 70.8%, respectively. Conclusions: Peripheral B cell subpopulations in patients with autoimmune diseases are significantly different from those in healthy individuals and can vary between diseases. Therefore, alterations in B cell populations may be a potential biomarker for diagnosing and evaluating autoimmune diseases. Full article
(This article belongs to the Section Clinical Laboratory Medicine)
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13 pages, 3170 KiB  
Article
Stent Failure Management in Contemporary Clinical Practice
by Iosif Xenogiannis, Charalampos Varlamos, Despoina-Rafailia Benetou, Vassiliki-Maria Dragona, Stefanos Vlachos, Christos Pappas, Fotios Kolokathis and Grigoris V. Karamasis
Diagnostics 2025, 15(13), 1709; https://doi.org/10.3390/diagnostics15131709 - 4 Jul 2025
Viewed by 243
Abstract
Background: Although contemporary stent technology has significantly evolved, a substantial number of patients present with stent failure (SF), the clinical expression of which is either in-stent restenosis (ISR) or stent thrombosis (ST). Methods: In this observational, single-center study, we aimed to compare the [...] Read more.
Background: Although contemporary stent technology has significantly evolved, a substantial number of patients present with stent failure (SF), the clinical expression of which is either in-stent restenosis (ISR) or stent thrombosis (ST). Methods: In this observational, single-center study, we aimed to compare the clinical characteristics, clinical presentation, angiographic findings and subsequent management of patients who underwent percutaneous coronary intervention (PCI) for SF, either ISR or ST, with patients who had PCI for de novo lesions. Results: Over a period of two years (September 2022–October 2024), 1120 patients underwent PCI, of whom 9% had SF. Of the 101 SF cases, the majority (76 cases, 75%) had ISR, while the rest (25 cases, 25%) had ST. Regarding baseline characteristics, patients who underwent PCI for SF had a higher incidence of diabetes mellitus (53% vs. 29%; p < 0.001), dyslipidemia (88% vs. 50%; p < 0.001) as well as prior coronary artery bypass grafting surgery (7.9% vs. 3.7%; p = 0.043), while they were less likely to be current smokers (33% vs. 52%; p < 0.001). SF PCI patients presented more frequently with unstable angina (17% vs. 8.9%; p = 0.010). A new stent was implanted in less than half of SF cases (i.e., stent implantation, 44% vs. 91%; p < 0.001). On the other hand, in the clinical setting of SF, drug-coated balloons (44% vs. 5.3%; p < 0.001) and plain balloon angioplasty (8.9% vs. 0.7%; p < 0.001) was applied more frequently compared with de novo lesions. Furthermore, the usage of cutting/scoring balloons and lithotripsy was significantly higher in the SF group (8.9% vs. 0.4% and 12% vs. 3%, respectively; p < 0.001 for both). Intracoronary imaging guidance was more commonly used in the SF group (33% vs. 13%; p < 0.001). Stent malapposition (44%) and neoatherosclerosis (67%) were the most common mechanisms of ST and ISR, respectively, as identified by intravascular imaging modalities. Finally, the success rates were comparable (96% vs. 98%; p = 0.150) between the two groups. Conclusions: Approximately one of ten patients underwent PCI because of the failure of a previously implanted stent. Use of intracoronary imaging is significantly higher in the clinical context of SF. While DES implantation remains the standard of practice for de novo lesions, DCBs are a popular alternative, especially for ISR cases. Interventional cardiologists who are involved in the treatment of SF cases should be familiar with interpreting intravascular imaging to guide the use of the adjunctive device required to ensure that optimal procedural results in SF cases are obtained. Full article
(This article belongs to the Special Issue Diagnosis and Management of Cardiovascular Diseases)
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18 pages, 573 KiB  
Review
Challenges, Difficulties, and Delayed Diagnosis of Multiple Myeloma
by Tugba Zorlu, Merve Apaydin Kayer, Nazik Okumus, Turgay Ulaş, Mehmet Sinan Dal and Fevzi Altuntas
Diagnostics 2025, 15(13), 1708; https://doi.org/10.3390/diagnostics15131708 - 4 Jul 2025
Viewed by 362
Abstract
Background: Multiple myeloma (MM) is a heterogeneous plasma cell malignancy with non-specific symptoms and disease heterogeneity at clinical and biological levels. This non-specific set of symptoms, including bone pain, anemia, renal failure, hypercalcemia, and neuropathy, can mislead diagnosis as chronic or benign conditions, [...] Read more.
Background: Multiple myeloma (MM) is a heterogeneous plasma cell malignancy with non-specific symptoms and disease heterogeneity at clinical and biological levels. This non-specific set of symptoms, including bone pain, anemia, renal failure, hypercalcemia, and neuropathy, can mislead diagnosis as chronic or benign conditions, resulting in a delay in diagnosis. Timely identification is paramount to prevent organ damage and reduce morbidity. Methods: In this review, we present an overview of recent literature concerning the factors leading to the delayed diagnosis of MM and the impact of delayed diagnosis. This includes factors relevant to physicians and systems, diagnostic processes, primary healthcare services, and laboratory and imaging data access and interpretation. Other emerging technologies to diagnose NCIs include AI-based decision support systems and biomarker-focused strategies. Findings: Delayed diagnosis can lead to presentation at advanced disease stages associated with life-threatening complications and shorter progression-free survival. Patients are often seen by many physicians before they are referred to hematology. Understanding of clinical red flags for MM in primary care is inadequate. Our findings indicate that limited access to diagnostic tests, inconsistent follow-up of MGUS/SMM patients, and a lack of interdepartmental coordination delay the diagnostic process. Conclusions: Multimodal tools for early diagnosis of MM. Educational campaigns to raise awareness of the disease, algorithms dedicated to routine care and novel technologies, including AI and big data analytics, and new biomarkers may serve this purpose, as well as genomic approaches to the premalignant MGUS stage. Full article
(This article belongs to the Special Issue Recent Advances in Hematology and Oncology)
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13 pages, 1697 KiB  
Article
Correlation Between MRI Characteristic of Osteosarcoma with 2-Year Survival Outcomes
by Mohd Noor Akmal Adam, Emilia Rosniza Mohammed Rusli, Erica Yee Hing, Juliana Fairuz Maktar, Ckhai Loh, Nor Hazla Mohamed Haflah and Faizah Mohd Zaki
Diagnostics 2025, 15(13), 1707; https://doi.org/10.3390/diagnostics15131707 - 3 Jul 2025
Viewed by 282
Abstract
Background: Magnetic resonance imaging (MRI) plays a crucial role in staging and preoperative evaluation in osteosarcoma patient. Fewer studies have focused on 2-year survival, which reflects tumour aggressiveness and early disease progression. This study examines the association between MRI characteristics and 2-year survival [...] Read more.
Background: Magnetic resonance imaging (MRI) plays a crucial role in staging and preoperative evaluation in osteosarcoma patient. Fewer studies have focused on 2-year survival, which reflects tumour aggressiveness and early disease progression. This study examines the association between MRI characteristics and 2-year survival outcomes in osteosarcoma to better understand the imaging characteristic of high-risk patients. Methods: A retrospective case–control study was conducted at a tertiary university hospital. Patients diagnosed with osteosarcoma between 2010 and 2022 were included if they had a pre-treatment MRI and at least 2 years of follow-up. MRI scans were reviewed by two blinded radiologists to assess tumour location, volume, growth pattern, presence of fluid–fluid levels (FFL), pathological fractures, skip metastases, neurovascular bundle involvement, regional lymphadenopathy, and physeal or joint involvement. Statistical analyses, including Fisher’s exact test, Chi-square test, and Mann–Whitney U test, were performed to determine associations between MRI features and survival outcomes. Results: Twenty-eight patients (n = 28) met the inclusion criteria. Larger tumour volume (>300 mls) was significantly associated with poorer 2-year survival (p = 0.008). The presence of skip metastases also correlated with worse outcomes (p = 0.041). While presence of FFL, concentric growth pattern, regional lymphadenopathy, and physeal involvement showed trends toward poorer prognosis, these associations were not statistically significant. Conclusions: MRI characteristics, particularly tumour volume and skip metastases, are significant prognostic indicators of 2-year survival in osteosarcoma. These findings highlight the potential role of MRI in risk stratification and treatment planning, aiding in the identification of high-risk patients that can help with management. Full article
(This article belongs to the Section Medical Imaging and Theranostics)
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5 pages, 3806 KiB  
Interesting Images
Early-Onset Retinal Dysfunction Associated with Novel WDR19 Variants in Sensenbrenner Syndrome
by Bogumiła Wójcik-Niklewska, Zofia Oliwa, Zofia Zdort and Adrian Smędowski
Diagnostics 2025, 15(13), 1706; https://doi.org/10.3390/diagnostics15131706 - 3 Jul 2025
Viewed by 211
Abstract
Sensenbrenner syndrome, or cranioectodermal dysplasia (CED), is a rare autosomal recessive ciliopathy characterized by craniofacial, skeletal, ectodermal, and renal abnormalities. Ocular involvement, though infrequent, can include retinal dystrophy with early-onset visual impairment. We report a case of a 2-year-old boy with classic [...] Read more.
Sensenbrenner syndrome, or cranioectodermal dysplasia (CED), is a rare autosomal recessive ciliopathy characterized by craniofacial, skeletal, ectodermal, and renal abnormalities. Ocular involvement, though infrequent, can include retinal dystrophy with early-onset visual impairment. We report a case of a 2-year-old boy with classic clinical features of CED and significant ocular findings. Genetic testing revealed two novel compound heterozygous variants in the WDR19 gene—c.1778G>T and c.3536T>G—expanding the known mutational spectrum associated with this condition. Ophthalmologic evaluation demonstrated bilateral optic nerve hypoplasia, high hyperopia, and severely reduced ERG responses, consistent with global retinal dysfunction. Fundoscopy revealed optic disk pallor, vessel attenuation, and peripheral pigment changes. Multisystem findings included postaxial polydactyly, brachydactyly, short stature, hypotonia, and stage 2 chronic kidney disease. This case highlights the importance of early ophthalmologic screening in suspected CED and underscores the utility of ERG in detecting early retinal involvement. The identification of two previously undescribed WDR19 variants contributes to genotype–phenotype correlation in CED and emphasizes the need for ongoing documentation to guide diagnosis, management, and genetic counseling. Full article
(This article belongs to the Section Medical Imaging and Theranostics)
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6 pages, 171 KiB  
Editorial
The Big Data Era in Cardiology and Cardiovascular Medicine: Advanced Analytics for Truly Personalized Care
by Pasquale Ambrosino, Fabio Manzo, Claudio Candia, Giorgio Alfredo Spedicato, Guido Grassi and Mauro Maniscalco
Diagnostics 2025, 15(13), 1705; https://doi.org/10.3390/diagnostics15131705 - 3 Jul 2025
Viewed by 204
Abstract
In recent years, a growing body of alarming epidemiological evidence has suggested that cardiovascular diseases (CVDs) are the leading cause of disability and premature mortality worldwide [...] Full article
(This article belongs to the Section Machine Learning and Artificial Intelligence in Diagnostics)
10 pages, 388 KiB  
Article
Evaluating the Predictive Value of HOMA-IR in Gestational Diabetes: A Case–Control Study from Romania
by Ait el Haj Iman, Cristina Onel, Gheorghe Furau, Cristian Furau, Roxana Furau, Mihai Lucan, Mircea Sandor, Liliana Sachelarie and Anca Huniadi
Diagnostics 2025, 15(13), 1704; https://doi.org/10.3390/diagnostics15131704 - 3 Jul 2025
Viewed by 249
Abstract
Background/Objectives: Gestational diabetes mellitus (GDM) is a common metabolic disorder during pregnancy, associated with increased risks for both maternal and fetal complications. Insulin resistance plays a central role in its pathophysiology. This study aimed to evaluate the predictive value of the Homeostatic Model [...] Read more.
Background/Objectives: Gestational diabetes mellitus (GDM) is a common metabolic disorder during pregnancy, associated with increased risks for both maternal and fetal complications. Insulin resistance plays a central role in its pathophysiology. This study aimed to evaluate the predictive value of the Homeostatic Model Assessment for Insulin Resistance (HOMA-IR) in diagnosing GDM and to explore its correlation with clinical and anthropometric parameters in a Romanian population. Methods: A retrospective case–control study was conducted on 320 pregnant women between 24 and 28 weeks of gestation. Based on ADA criteria, participants were divided into 160 with GDM and 160 controls, matched by age and gestational week. Fasting glucose, insulin, BMI, and blood pressure were assessed. HOMA-IR and HOMA-β were calculated. Statistical analyses included t-tests, Pearson correlation, and logistic regression. Results: HOMA-IR was significantly higher in the GDM group (2.9 vs. 1.8; p < 0.001). It correlated with fasting insulin (r = 0.85, p < 0.001), fasting glucose (r = 0.65, p < 0.001), BMI (r = 0.60, p < 0.001), and systolic blood pressure (r = 0.42, p < 0.001). Logistic regression identified HOMA-IR as an independent predictor of GDM (OR = 2.4, 95% CI: 1.6–3.5, p < 0.001), along with BMI (p = 0.01) and maternal age (p = 0.05). Conclusions: HOMA-IR is significantly associated with GDM and may enhance mid-gestational risk assessment when combined with clinical and anthropometric measures. Further studies are needed to validate its predictive accuracy in broader populations. Full article
(This article belongs to the Special Issue Insights into Perinatal Medicine and Fetal Medicine—2nd Edition)
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11 pages, 2276 KiB  
Article
OCT Angiography Assessment of Type 1 Diabetes Mellitus Patients Without Diabetic Retinopathy: A 3-Year Follow-Up Study
by Alexandra Oltea Dan, Carmen Luminița Mocanu, Alin Ștefan Ștefănescu-Dima, Andreea Cornelia Tănasie, Veronica Elena Maria, Anca Elena Târtea and Andrei Theodor Bălășoiu
Diagnostics 2025, 15(13), 1703; https://doi.org/10.3390/diagnostics15131703 - 3 Jul 2025
Viewed by 238
Abstract
Background/Objectives: This study aims to investigate the progression of retinal microvascular changes using OCTA in young T1DM patients without clinical signs of DR over a period of 3 years. Methods: This prospective, longitudinal study analyzed OCT angiograms of T1DM patients without clinical [...] Read more.
Background/Objectives: This study aims to investigate the progression of retinal microvascular changes using OCTA in young T1DM patients without clinical signs of DR over a period of 3 years. Methods: This prospective, longitudinal study analyzed OCT angiograms of T1DM patients without clinical signs of DR. It included 40 T1DM patients aged between 7 and 20 years old who formed the T1DM study group and 40 healthy subjects with similar demographic characteristics to the control group. The patients underwent comprehensive ophthalmic examination and OCT imaging using a Retina Wide protocol (6 × 6 mm). We analyzed the following microvascular retinal parameters: FAZ area, perimeter and circularity and superficial capillary plexus (SCP) and deep capillary plexus (DCP) vessel density. Results: Statistically significant differences between the two groups were identified for the following parameters: the mean FAZ area at follow-up (0.38 ± 0.13) was larger than the mean FAZ area at baseline (0.31 ±0.11), the mean FAZ perimeter at follow-up (3.22 ± 0.75) was larger than the mean FAZ perimeter at baseline (2.61 ± 00.52) and the men FAZ circularity index at follow-up (0.47 ± 0.13) was decreased compared to the FAZ circularity index at baseline (0.56 ± 0.12). A statistically significant difference were also registered for the following parameter: the total SCP and DCP vessel density was decreased at follow-up (37.47 ± 1.57) compared to baseline (38.79 ± 1.00). Conclusions: OCTA long-term monitoring of T1DM patients represents an effective method for tracking progressive changes in FAZ parameters and capillary plexus vascular density. Full article
(This article belongs to the Special Issue OCT and OCTA Assessment of Retinal and Choroidal Diseases)
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13 pages, 2839 KiB  
Article
Cranial Vault Deformation and Its Association with Mandibular Deviation in Patients with Facial Asymmetry: A CT-Based Study
by Mayuko Nishimura, Chie Tachiki, Taiki Morikawa, Dai Ariizumi, Satoru Matsunaga, Keisuke Sugahara, Yasuo Aihara, Akira Watanabe, Akira Katakura, Takakazu Kawamata and Yasushi Nishii
Diagnostics 2025, 15(13), 1702; https://doi.org/10.3390/diagnostics15131702 - 3 Jul 2025
Viewed by 243
Abstract
Background/Objectives: Facial asymmetry is known to cause not only deformities in the facial skeleton but also alterations in the cranial vault. However, limited research has explored the association between mandibular asymmetry and cranial vault deformation. This study aimed to evaluate the three-dimensional [...] Read more.
Background/Objectives: Facial asymmetry is known to cause not only deformities in the facial skeleton but also alterations in the cranial vault. However, limited research has explored the association between mandibular asymmetry and cranial vault deformation. This study aimed to evaluate the three-dimensional craniofacial morphology, including the cranial vault, in patients with skeletal mandibular prognathism using computed tomography (CT) imaging. Methods: Patients were classified into two groups: those with facial asymmetry (ANB ≤ 0°, Menton deviation ≥ 4 mm) and those without (ANB ≤ 0°, Menton deviation < 3 mm). Reference planes were established in three orthogonal directions, and distances from anatomical landmarks on the maxilla and mandible to each reference plane were measured. Additionally, the cranial vault was segmented into four regions, and the volume of each section was calculated. Results: Compared with the symmetric group, the asymmetric group exhibited significant lateral displacement in the maxilla and both anteroposterior and lateral displacements in the mandible. Furthermore, a significant difference in the posterior cranial vault volume between the left and right sides was observed in the asymmetric group. A moderate positive correlation (r = 0.543, p = 0.045) was also found between the direction of mandibular deviation and the direction of posterior cranial vault deformation. Conclusions: A moderate positive correlation (r = 0.543, p = 0.045) was observed between mandibular deviation and posterior cranial vault asymmetry. These findings may suggest that the cranial vault morphology may influence facial asymmetry, and it may serve as one of the considerations for discussing the necessity of early intervention for cranial vault deformity during infancy. Full article
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16 pages, 10545 KiB  
Article
Macular Microvasculature Is Different in Patients with Primary Sjögren’s Disease Compared to Healthy Controls
by Gyde Tadsen, Nadine Zehrfeld, Laura Hoffmann, Marten Gehlhaar, Bettina Hohberger, Christian Mardin, Torsten Witte, Carsten Framme, Diana Ernst and Katerina Hufendiek
Diagnostics 2025, 15(13), 1701; https://doi.org/10.3390/diagnostics15131701 - 3 Jul 2025
Viewed by 213
Abstract
Background/Objectives: This study investigates the macular microvasculature in a large cohort of primary Sjögren’s disease (SjD) patients using optical coherence tomography angiography (OCTA), focusing on how disease duration, activity, and hydroxychloroquine (HCQ) treatment influence retinal microcirculation. Methods: A total of 106 eyes [...] Read more.
Background/Objectives: This study investigates the macular microvasculature in a large cohort of primary Sjögren’s disease (SjD) patients using optical coherence tomography angiography (OCTA), focusing on how disease duration, activity, and hydroxychloroquine (HCQ) treatment influence retinal microcirculation. Methods: A total of 106 eyes (53 SjD patients) and 70 eyes (35 age- and gender-matched healthy controls (HCs)) were examined. The vessel area density (VAD, %) and foveal avascular zone (FAZ, mm2) were measured in three retinal layers: Superficial Vascular Plexus (SVP), Intermediate Capillary Plexus (ICP), and Deep Capillary Plexus (DCP), respectively, in three peri-macular circular sectors (c1, c2, c3) each. Results: The VAD was significantly lower in c1 of the DCP in SjD compared to HCs (29.14 ± 7.07 vs. 31.78 ± 9.55, p = 0.038). The FAZ was significantly larger in SjD in both SVP (0.41 ± 0.13 vs. 0.34, 0.11, p < 0.001; Cohen’s |d| = 0.55) and DCP (0.45 ± 0.15 vs. 0.4 ± 0.14, p = 0.014; Cohen’s |d| ± 0.38). Significant correlations were observed between the FAZ size and reductions in the VAD in the SVP and DCP (p = 0.010, Cohen’s |d| = 0.2; p < 0.001, Cohen’s |d| ± 0.26) and across all layers combined (p = 0.019, Cohen’s |d| = −0.18). Conclusions: There was a negative correlation between the VAD in the DCP and disease duration (ρ = −0.28, p = 0.040). No significant correlation was identified between the duration of HCQ intake and the VAD or FAZ. Our findings indicate microvascular alterations in the DCP of SjD, characterized by a reduced VAD and an enlarged FAZ, which may be attributable to inflammatory or arteriosclerotic factors. OCTA may prove to be a valuable tool for the stratification of vascular risk in SjD. Full article
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20 pages, 1534 KiB  
Article
Retinal Vessel Diameter Reductions Are Associated with Retinal Ganglion Cell Dysfunction, Thinning of the Ganglion Cell and Inner Plexiform Layers, and Decreased Visual Field Global Indices in Glaucoma Suspects
by Andrew Tirsi, Nicholas Leung, Rohun Gupta, Sungmin Hong, Derek Orshan, Joby Tsai, Corey Ross Lacher, Isabella Tello, Samuel Potash, Timothy Foster, Rushil Kumbhani and Celso Tello
Diagnostics 2025, 15(13), 1700; https://doi.org/10.3390/diagnostics15131700 - 3 Jul 2025
Viewed by 300
Abstract
Background/Objectives: The aim of this study was to evaluate the associations between optical coherence tomography angiography (OCTA)-based retinal vessel diameter (RVD) measurements, with retinal ganglion cell (RGC) function assessed by means of steady-state pattern electroretinography (ssPERG) using ganglion cell layer-inner plexiform layer [...] Read more.
Background/Objectives: The aim of this study was to evaluate the associations between optical coherence tomography angiography (OCTA)-based retinal vessel diameter (RVD) measurements, with retinal ganglion cell (RGC) function assessed by means of steady-state pattern electroretinography (ssPERG) using ganglion cell layer-inner plexiform layer thickness (GCL-IPLT) measurements and with Humphrey field analyzer (HFA) global indices in glaucoma suspects (GSs). Methods: Thirty-one eyes (20 participants) underwent a comprehensive ophthalmologic examination, ssPERG measurements utilizing the PERGLA paradigm, HFA, optical coherence tomography (OCT), and OCTA. The OCTA scans were processed using ImageJ software, Version 1.53, allowing for measurement of the RVD. Multiple linear regression models were used. Results: After controlling for age, race, central corneal thickness (CCT), and spherical equivalent (SE), a linear regression analysis found that the RVD explained the 4.7% variance in magnitude (Mag) (p = 0.169), 9.2% variance in magnitudeD (MagD) (p = 0.021), and 16.9% variance in magnitudeD/magnitude (p = 0.009). After controlling for age, CCT, and signal strength (SS), a linear regression analysis found that the RVD was significantly associated with the GCL-IPLT measurements (average GCL-IPL, minimum GCL-IPL, superior, superonasal, inferior, and inferonasal sectors) (p ≤ 0.023). An identical regression analysis where the RVD was replaced with the PERG parameters showed a significant association between the MagD and almost all GCI-IPLT measurements. RVD measurements were significantly associated with HFA VFI 24-2 (p = 0.004), MD 24-2 (p < 0.001), and PSD 24-2 (p = 0.009). Conclusions: Decreased RVD measurements were significantly associated with RGC dysfunction, decreased GCL-IPLT, and all HFA global indices in the GSs. Full article
(This article belongs to the Special Issue Imaging and AI Applications in Glaucoma)
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14 pages, 3170 KiB  
Review
Simplified Artificial Intelligence Terminology for Pathologists
by Fatemeh Zabihollahy, Michael Mankaruos, Maxim Mohareb, Timothy Youssef, Yasaman Soleymani and George M. Yousef
Diagnostics 2025, 15(13), 1699; https://doi.org/10.3390/diagnostics15131699 - 3 Jul 2025
Viewed by 241
Abstract
The expanding shift towards digital pathology in clinical practice globally highlights its potential to enhance patient care through artificial intelligence (AI)-powered, computer-assisted diagnostics. Effective communication between AI scientists and pathologists is crucial for this transformation, though their differing technical languages can pose challenges. [...] Read more.
The expanding shift towards digital pathology in clinical practice globally highlights its potential to enhance patient care through artificial intelligence (AI)-powered, computer-assisted diagnostics. Effective communication between AI scientists and pathologists is crucial for this transformation, though their differing technical languages can pose challenges. The manuscript aims to offer simplified explanations of common AI terminology, along with practical examples and illustrations, to help pathologists better grasp AI concepts. This review is divided into the following sections: AI technologies and algorithms in computational pathology; frameworks for training AI models; nomenclature of image analysis; and public datasets for computational pathology research. These sections collectively provide a comprehensive understanding of the current landscape and resources in computational pathology. The manuscript fosters better communication between these fields and showcases the advantages of AI technologies in pathology. Full article
(This article belongs to the Special Issue Latest News in Digital Pathology)
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