Diagnostics

12 pages, 1074 KiB

Open AccessArticle

Structural Retinal and Optic Nerve Changes in Prostate Cancer Patients Receiving Androgen Receptor Pathway Inhibitors: An OCT-Based In Vivo Analysis

by Yasemin Bakkal Temi, Büşra Yılmaz Tuğan, İlkay Çıtakkul, Ece Baydar, Gözde Karaca, Sibel Balcı, Devrim Çabuk, Umut Kefeli, Nurşen Yüksel and Kazım Uygun

Diagnostics 2025, 15(13), 1682; https://doi.org/10.3390/diagnostics15131682 - 1 Jul 2025

Abstract

Objective: To conduct a comparative analysis of layer-by-layer macular thickness, peripapillary retinal nerve fiber layer (pRNFL), and minimum rim width (MRW) between the eyes of patients with prostate cancer undergoing treatment with androgen receptor pathway inhibitors (ARPIs) and those of age- and sex-matched [...] Read more.

Objective: To conduct a comparative analysis of layer-by-layer macular thickness, peripapillary retinal nerve fiber layer (pRNFL), and minimum rim width (MRW) between the eyes of patients with prostate cancer undergoing treatment with androgen receptor pathway inhibitors (ARPIs) and those of age- and sex-matched healthy controls, with the aim of assessing the potential effects of ARPIs on retinal structure. Methods: In this prospective cross-sectional study, 80 eyes of 80 patients with ARPI-treated metastatic prostate cancer and 80 eyes of 80 age-matched healthy controls were evaluated using Heidelberg Spectralis optical coherence tomography (OCT). Layer-by-layer macular thickness, pRNFL, and MRW were measured and compared between groups. Results: Thickness in most segments of retinal layers and pRNFL, as well as all MRW values, were significantly lower in the ARPI-treated group than in the controls (p < 0.05). No significant differences were observed between groups in terms of age, visual acuity, intraocular pressure, central corneal thickness, or lens status. Conclusions: This study is the first to evaluate layer-by-layer macular thickness in patients with metastatic prostate cancer treated with ARPIs, revealing significant thinning in nearly all macular layers, pRNFL, and MRW. These findings suggest that ARPI therapy may induce neurodegenerative changes in retinal and optic nerve structures. Therefore, further research is warranted to assess the ocular safety of these therapeutic agents. Full article

(This article belongs to the Special Issue Advances in Eye Imaging)

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13 pages, 1996 KiB

Open AccessArticle

Deep Learning-Enhanced T1-Weighted Imaging for Breast MRI at 1.5T

by Susann-Cathrin Olthof, Marcel Dominik Nickel, Elisabeth Weiland, Daniel Leyhr, Saif Afat, Konstantin Nikolaou and Heike Preibsch

Diagnostics 2025, 15(13), 1681; https://doi.org/10.3390/diagnostics15131681 - 1 Jul 2025

Abstract

Background/Objectives: Assessment of a novel deep-learning (DL)-based T1w volumetric interpolated breath-hold (VIBE_DL) sequence in breast MRI in comparison with standard VIBE (VIBE_Std) for image quality evaluation. Methods: Prospective study of 52 breast cancer patients examined at 1.5T [...] Read more.

Background/Objectives: Assessment of a novel deep-learning (DL)-based T1w volumetric interpolated breath-hold (VIBE_DL) sequence in breast MRI in comparison with standard VIBE (VIBE_Std) for image quality evaluation. Methods: Prospective study of 52 breast cancer patients examined at 1.5T breast MRI with T1w VIBE_Std and T1 VIBE_DL sequence. T1w VIBE_DL was integrated as an additional early non-contrast and a delayed post-contrast scan. Two radiologists independently scored T1w VIBE _Std/DL sequences both pre- and post-contrast and their calculated subtractions (SUBs) for image quality, sharpness, (motion)–artifacts, perceived signal-to-noise and diagnostic confidence with a Likert-scale from 1: Non-diagnostic to 5: Excellent. Lesion diameter was evaluated on the SUB for T1w VIBE_Std/_DL. All lesions were visually evaluated in T1w VIBE_Std/_DL pre- and post-contrast and their subtractions. Statistics included correlation analyses and paired t-tests. Results: Significantly higher Likert scale values were detected in the pre-contrast T1w VIBE_DL compared to the T1w VIBE_Std for image quality (each p < 0.001), image sharpness (p < 0.001), SNR (p < 0.001), and diagnostic confidence (p < 0.010). Significantly higher values for image quality (p < 0.001 in each case), image sharpness (p < 0.001), SNR (p < 0.001), and artifacts (p < 0.001) were detected in the post-contrast T1w VIBE_DL and in the SUB. SUB_DL provided superior diagnostic certainty compared to SUB_Std in one reader (p = 0.083 or p = 0.004). Conclusions: Deep learning-enhanced T1w VIBE_DL at 1.5T breast MRI offers superior image quality compared to T1w VIBE_Std. Full article

(This article belongs to the Special Issue Advances in Diagnosis and Prognosis of Breast Cancer)

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24 pages, 10350 KiB

Open AccessReview

Expanding Role of Contrast-Enhanced Ultrasound and Elastography in the Evaluation of Abdominal Pathologies in Children

by Natae Fekadu Lemessa, Laith R. Sultan, Santiago Martinez-Correa, Laura May Davis and Misun Hwang

Diagnostics 2025, 15(13), 1680; https://doi.org/10.3390/diagnostics15131680 - 1 Jul 2025

Abstract

Contrast-enhanced ultrasound and elastography are two ultrasound technologies that are becoming increasingly popular in the evaluation of different abdominal pathologies in children. The use of these technologies has expanded the diagnostic scope of ultrasound into areas that were traditionally covered by advanced imaging [...] Read more.

Contrast-enhanced ultrasound and elastography are two ultrasound technologies that are becoming increasingly popular in the evaluation of different abdominal pathologies in children. The use of these technologies has expanded the diagnostic scope of ultrasound into areas that were traditionally covered by advanced imaging modalities such as computed tomography, magnetic resonance imaging, and fluoroscopy. In this review, we summarize the use of contrast-enhanced ultrasound and elastography in the evaluation of hepatic, renal, pancreatic, splenic, urinary tract, and scrotal pathologies in children. We describe the technical aspects, applications, and limitations, intending to make readers more acquainted with the technologies. Full article

(This article belongs to the Special Issue Abdominal Ultrasound: A Left Behind Area)

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18 pages, 2596 KiB

Open AccessReview

Management and Treatment of Carotid Stenosis: Overview of Therapeutic Possibilities and Comparison Between Interventional Radiology, Surgery and Hybrid Procedure

by Lorenzo Aliotta, Livio Maria Gavazzi, Pierantonio Malfa, Pietro Valerio Foti, Stefano Palmucci, Maria Chiara Lo Greco, Corrado Spatola, Corrado Inì, Francesco Tiralongo, Davide Castiglione, Rita Bella, Gianluca Galvano, Giuseppe Lanza, Silvia Gigli, Antonio Basile, Vito Cantisani and Emanuele David

Diagnostics 2025, 15(13), 1679; https://doi.org/10.3390/diagnostics15131679 - 1 Jul 2025

Abstract

Carotid stenosis is a common pathology in clinical practice and unfortunately carries a high risk of serious cerebrovascular events. The early recognition of carotid plaque and, consequently, a careful analysis by means of multimodal imaging are the necessary steps to undertake a correct [...] Read more.

Carotid stenosis is a common pathology in clinical practice and unfortunately carries a high risk of serious cerebrovascular events. The early recognition of carotid plaque and, consequently, a careful analysis by means of multimodal imaging are the necessary steps to undertake a correct management pathway, aimed at preventing or, if not possible, reducing the risk of atherogenic phenomena responsible for cerebral infarction. In particular, the presence or absence of clinical symptoms, understood as the occurrence of events such as TIAs in the last 6 months, non-disabling strokes or repeated episodes of amaurosis fugax, and the degree of carotid stenosis, are certainly the most studied parameters, and as reported by several international guidelines, can lead to the best therapeutic strategy: whether to rely on conservative medical therapy or to resort to mechanical revascularization of the carotid stenosis. According to the recommendations of the European Society of Vascular Surgery, mechanical revascularization is recommended for stenosis > 50% in symptomatic patients and stenosis > 60% in asymptomatic patients. In contrast, the latest findings on plaque vulnerability have focused attention on individual patient characteristics and clinical comorbidities that may be responsible for plaque inflammation and should therefore be taken into consideration to decide if revascularization treatment is needed even in those subjects who present stenosis with less degree than reported as critical value. Moreover, further radiological investigations are fundamental to finding the presence of entities such as plaque ulceration, plaque neo-vascularization, fibrous caps, and intraplaque lipid core that are responsible for increased vulnerability. Medical therapy involves interventions aimed at eliminating cardiovascular risk factors by administering drugs that control the comorbidities responsible for worsening carotid stenosis. Recent studies are also evaluating the effectiveness of new plaque-modifying drugs or targeted anti-inflammatory agents in reducing the risk of plaque development and complications. Revascularization therapies, on the other hand, include surgery (CEA), the endovascular technique (CAS), and a new hybrid technique (TCAR): they are all valid alternatives for the treatment of carotid stenosis, each with specific technical difficulties, but on the whole with comparable safety profiles and risk rates of postoperative complications, although some recent emergencies have focused attention on possible short- and long-term gender-dependent outcome differences. The aim of this manuscript is to present the state of the art in the management of patients with carotid stenosis and to take a closer look at revascularization options. In our opinion, the choice of one strategy over another should therefore depend on gender, anatomical features of the patient, preoperative comorbidities, and last but not least, the experience of the center and the multidisciplinary team involved in the management of the patient. Full article

(This article belongs to the Special Issue Imaging of the Future: From the Standardisation of Diagnostic Processes to Artificial Intelligence)

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42 pages, 5287 KiB

Open AccessArticle

Enhancing Early Detection of Oral Squamous Cell Carcinoma: A Deep Learning Approach with LRT-Enhanced EfficientNet-B3 for Accurate and Efficient Histopathological Diagnosis

by A. A. Abd El-Aziz, Mahmood A. Mahmood and Sameh Abd El-Ghany

Diagnostics 2025, 15(13), 1678; https://doi.org/10.3390/diagnostics15131678 - 1 Jul 2025

Abstract

Background/Objectives: Oral cancer, particularly oral squamous cell carcinoma (OSCC), ranks as the sixth most prevalent cancer globally, with rates of occurrence on the rise. The diagnosis of OSCC primarily depends on histopathological images (HIs), but this method can be time-intensive, expensive, and reliant [...] Read more.

Background/Objectives: Oral cancer, particularly oral squamous cell carcinoma (OSCC), ranks as the sixth most prevalent cancer globally, with rates of occurrence on the rise. The diagnosis of OSCC primarily depends on histopathological images (HIs), but this method can be time-intensive, expensive, and reliant on specialized expertise. Manual diagnosis often leads to inaccuracies and inconsistencies, highlighting the urgent need for automated and dependable diagnostic solutions to enhance early detection and treatment success. Methods: This research introduces a deep learning (DL) approach utilizing EfficientNet-B3, complemented by learning rate tuning (LRT), to identify OSCC from histopathological images. The model is designed to automatically modify the learning rate based on the accuracy and loss during training, which improves its overall performance. Results: When evaluated using the oral tumor dataset from the multi-cancer dataset, the model demonstrated impressive results, achieving an accuracy of 99.84% and a specificity of 99.92%, along with other strong performance metrics. Conclusions: These findings indicate its potential to simplify the diagnostic process, lower costs, and enhance patient outcomes in clinical settings. Full article

(This article belongs to the Special Issue Application of Artificial Intelligence to Oral Diseases)

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13 pages, 750 KiB

Open AccessArticle

Management and Outcomes of Pulmonary Nodules in a Real-World Setting

by Berta Mosleh, Pavla Sarova, Helmut Prosch, Joachim Widder, Clemens Aigner, Marco Idzko, Mir Alireza Hoda and Daniela Gompelmann

Diagnostics 2025, 15(13), 1677; https://doi.org/10.3390/diagnostics15131677 - 1 Jul 2025

Abstract

Background and Objective: Due to the increasing use of imaging and lung cancer screening programs, the rate of detected pulmonary nodules has steadily increased over the past decade. Overall, the diagnosis and management of pulmonary nodules remain challenging. Moreover, no specific guidelines exist [...] Read more.

Background and Objective: Due to the increasing use of imaging and lung cancer screening programs, the rate of detected pulmonary nodules has steadily increased over the past decade. Overall, the diagnosis and management of pulmonary nodules remain challenging. Moreover, no specific guidelines exist for the management of pulmonary nodules in patients with a history of previous malignancy. This study reflects the current management in a real-world setting in a specialized European center. Methods: In this retrospective single-center study, patients with a pulmonary nodule <3 cm referred to the Division of Pulmonology or the Department of Thoracic Surgery at the Medical University of Vienna, Austria, from November 2022 to July 2024, were analyzed. A subgroup analysis of patients with a history of previous malignancy was performed and compared to patients without previous malignancies. Results: In total, 356 patients (48.5% male, median age 67 years [IQR 61–74], 53.7% with a history of previous cancer) with a pulmonary nodule (mean size of 14.8 mm) were enrolled. Bronchoscopy, computed tomography (CT)-guided biopsy, or surgery was performed in 13.2%, 7.3%, and 65.2% of the cases, respectively. The overall malignancy rate was 70.5%. Pulmonary nodules in patients with a prior malignancy were significantly larger (p < 0.001), showed a progression in size (p < 0.001), and were found to be malignant more frequently when compared to patients without previous cancer (p = 0.032). Conclusions: As most patients referred to a specialized center represent a selected group of high-risk patients, the majority of pulmonary nodules were found to be malignant. In patients with a history of previous malignancy, tissue sampling is warranted as the rate of malignancy is high. Full article

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

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11 pages, 795 KiB

Open AccessArticle

Branch Duct IPMN-Associated Acute Pancreatitis in a Large Single-Center Cohort Study

by Nicolò de Pretis, Luigi Martinelli, Antonio Amodio, Federico Caldart, Salvatore Crucillà, Maria Sole Battan, Alberto Zorzi, Stefano Francesco Crinò, Maria Cristina Conti Bellocchi, Laura Bernardoni, Giulia De Marchi, Pietro Campagnola, Roberto Salvia, Armando Gabbrielli, Alessandro Marcon and Luca Frulloni

Diagnostics 2025, 15(13), 1676; https://doi.org/10.3390/diagnostics15131676 - 1 Jul 2025

Abstract

Background/Objectives: IPMNs are a possible cause of acute pancreatitis (AP). IPMN-associated-AP is considered a relative indication for surgery for the prevention of recurrent attacks of pancreatitis and for a hypothesized increased cancer risk. The literature is based on surgical series, and no [...] Read more.

Background/Objectives: IPMNs are a possible cause of acute pancreatitis (AP). IPMN-associated-AP is considered a relative indication for surgery for the prevention of recurrent attacks of pancreatitis and for a hypothesized increased cancer risk. The literature is based on surgical series, and no data on the clinical features of AP associated with IPMNs and on the risk of recurrent pancreatitis and pancreatic cancer are available. This study aimed to describe the clinical/radiological features of BD-IPMN-associated AP. Moreover, BD-IPMN-associated risk factors for AP recurrence and risk of pancreatic cancer were investigated. Methods: Patients with AP associated with branch-duct IPMN (BD-IPMN) without “worrisome- features” and “high-risk-stigmata” evaluated in a Gastroenterology Unit (University of Verona) between 1 January 2012 and 31 December 2022 were retrospectively analyzed. Cox proportional hazard models were used to analyze the time to recurrence after the first occurrence of AP. Results: One hundred and thirty-five patients were included, with a mean age of 55.8 ± 12.5 years. Necrosis was diagnosed in 15 patients (11.1%) and 1 patient (0.7%) was admitted to the ICU. One hundred and two (75.6%) patients had recurrent pancreatitis. The median size of the largest BD-IPMN was 8 mm (Q1–Q3: 5–12). Eighteen patients (13.3%) developed main pancreatic duct dilation ≥ 5 mm. No patients developed dilation of the main pancreatic duct ≥ 10 mm, mural nodules, thickened cystic walls, or jaundice. In the unadjusted analysis, no BD-IPMN-related features were associated with an increased risk of recurrent pancreatitis. None of the patients developed pancreatic cancer. Conclusions: BD-IPMN-associated AP appears to have a benign clinical course. Cystic features related to increased risk of recurrence were not identified. The risk of cancer appears extremely low. Full article

(This article belongs to the Special Issue Advances in Diagnosis and Management of Pancreatic and Biliary Disorders)

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17 pages, 1687 KiB

Open AccessArticle

Towards Precision Medicine in Sinonasal Tumors: Low-Dimensional Radiomic Signature Extraction from MRI

by Riccardo Biondi, Giacomo Gravante, Daniel Remondini, Sara Peluso, Serena Cominetti, Francesco D’Amore, Maurizio Bignami, Alberto Daniele Arosio and Nico Curti

Diagnostics 2025, 15(13), 1675; https://doi.org/10.3390/diagnostics15131675 - 30 Jun 2025

Abstract

Background: Sinonasal tumors are rare, accounting for 3–5% of head and neck neoplasms. Machine learning (ML) and radiomics have shown promise in tumor classification, but current models lack detailed morphological and textural characterization. Methods: This study analyzed MRI data from 145 patients (76 [...] Read more.

Background: Sinonasal tumors are rare, accounting for 3–5% of head and neck neoplasms. Machine learning (ML) and radiomics have shown promise in tumor classification, but current models lack detailed morphological and textural characterization. Methods: This study analyzed MRI data from 145 patients (76 malignant and 69 benign) across multiple centers. Radiomic features were extracted from T1-weighted (T1-w) images with contrast and T2-weighted (T2-w) images based on manually annotated tumor volumes. A dedicated ML pipeline assessed the effectiveness of different radiomic features and their integration with clinical variables. The DNetPRO algorithm was used to extract signatures combining radiomic and clinical data. Results: The results showed that ML classification using both data types achieved a median Matthews Correlation Coefficient (MCC) of 0.60 ± 0.07. The best-performing DNetPRO models reached an MCC of 0.73 (T1-w + T2-w) and 0.61 (T1-w only). Key clinical features included symptoms and tumor size, while radiomic features provided additional diagnostic insights, particularly regarding gray-level distribution in T2-w and texture complexity in T1-w images. Conclusions: Despite its potential, ML-based radiomics faces challenges in clinical adoption due to data variability and model diversity. Standardization and interpretability are crucial for reliability. The DNetPRO approach helps explain feature importance and relationships, reinforcing the clinical relevance of integrating radiomic and clinical data for sinonasal tumor classification. Full article

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

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5 pages, 1997 KiB

Open AccessInteresting Images

Ischemic Stroke Secondary to Arterial Tunica Media Embolism Following Percutaneous Coronary Intervention: An Uncommon Etiology

by Patricija Griškaitė, Neringa Jansevičiūtė, Givi Lengvenis, Kipras Mikelis, Mindaugas Zaikauskas, Marius Kurminas, Andrius Berūkštis and Algirdas Edvardas Tamošiūnas

Diagnostics 2025, 15(13), 1674; https://doi.org/10.3390/diagnostics15131674 - 30 Jun 2025

Abstract

Ischemic stroke following percutaneous coronary intervention (PCI) is a rare complication, with an overall incidence of 0.56%. Most embolic strokes result from the dislodgement of atherosclerotic plaques, thrombi formed on catheter surfaces, procedural maneuvers, or, less commonly, air or metallic emboli originating from [...] Read more.

Ischemic stroke following percutaneous coronary intervention (PCI) is a rare complication, with an overall incidence of 0.56%. Most embolic strokes result from the dislodgement of atherosclerotic plaques, thrombi formed on catheter surfaces, procedural maneuvers, or, less commonly, air or metallic emboli originating from fractured guidewires. We present a unique case of stroke following PCI due to a previously unreported mechanism—arterial tunica media embolization associated with arterial access. A 57-year-old female presented with chest pain at rest and with exertion, accompanied by episodes of anxiety and fluctuating blood pressure, for which coronary angiography was performed, revealing 90–99% stenosis of the left anterior descending artery and necessitating PCI. During the procedure, the patient developed an eye deviation, aphasia, and left-sided hemiparesis. Cerebral angiography identified a M2 segment occlusion of the right middle cerebral artery (MCA) and a subocclusion of the right anterior cerebral artery (ACA). Thrombectomy was performed, retrieving two white, tubular emboli resembling fragments of a vessel wall, histologically confirmed to be arterial tunica media. While PCI is associated with a low complication rate, its increasing frequency necessitates awareness of emerging complications. This case underscores a previously undocumented potential embolic complication arising from the performance of PCI. Full article

(This article belongs to the Special Issue Diagnostic Imaging in Neurological Diseases)

12 pages, 1390 KiB

Open AccessCase Report

Exploring Chromogranin A (CgA) as a Diagnostic Marker in Hypothermia-Related Deaths: Two Case Studies and a Literature Review

by Luca Tomassini, Erika Buratti, Giulia Ricchezze and Roberto Scendoni

Diagnostics 2025, 15(13), 1673; https://doi.org/10.3390/diagnostics15131673 - 30 Jun 2025

Abstract

Background: Hypothermia, occurring when core temperature drops below 35 °C, can lead to death when the body’s heat loss exceeds its heat production. This study investigates two hypothermia-related deaths, exploring the utility of immunohistochemistry, specifically focusing on chromogranin A (CgA) as a potential [...] Read more.

Background: Hypothermia, occurring when core temperature drops below 35 °C, can lead to death when the body’s heat loss exceeds its heat production. This study investigates two hypothermia-related deaths, exploring the utility of immunohistochemistry, specifically focusing on chromogranin A (CgA) as a potential diagnostic tool. The aim is to assess whether CgA expression in neuroendocrine tissues can be considered a reliable indicator of premortem stress response in fatal hypothermia cases. Case Presentation: In the first case, a 67-year-old man was found on a snowy road 24 h after his disappearance. The autopsy revealed cold-induced skin lesions, gastric hemorrhages, and cerebral and pulmonary edema. Positive CgA immunostaining was observed in the pancreatic islets and adrenal medulla. In the second case, a 49-year-old man was found dead in a wooded area with indications of suicide. Both cases were examined with attention to macroscopic findings and histological samples from major neuroendocrine organs. As in previous cases, CgA immunostaining was positive in the pancreatic islets and adrenal medulla. Staining intensity was moderate to strong, consistent with heightened neuroendocrine activity, supporting the hypothesis of systemic stress prior to death. Conclusions: Although CgA is a potentially valuable adjunct in hypothermia diagnosis, careful consideration of cadaveric preservation is emphasized, particularly when bodies are preserved before autopsy. Further studies with larger sample sizes are needed to confirm its diagnostic specificity and to distinguish true pathological patterns from postmortem artifacts. Full article

(This article belongs to the Special Issue New Perspectives in Forensic Diagnosis)

17 pages, 915 KiB

Open AccessArticle

Iron Status, Anemia, and Functional Capacity in Adults with Congenital Heart Disease

by Raphael Phinicarides, Isabelle Esther Reuter, Georg Wolff, Athanasios Karathanos, Houtan Heidari, Maryna Masyuk, Frank Pillekamp, Malte Kelm, Tobias Zeus and Kathrin Klein

Diagnostics 2025, 15(13), 1672; https://doi.org/10.3390/diagnostics15131672 - 30 Jun 2025

Abstract

Background: Congenital heart disease (CHD) affects approximately 9 per 1000 live births worldwide, with increasing prevalence due to improved survival. Today, over 90% of individuals with CHD reach adulthood, resulting in a growing population of adults with congenital heart disease (ACHD). Despite its [...] Read more.

Background: Congenital heart disease (CHD) affects approximately 9 per 1000 live births worldwide, with increasing prevalence due to improved survival. Today, over 90% of individuals with CHD reach adulthood, resulting in a growing population of adults with congenital heart disease (ACHD). Despite its clinical relevance, iron deficiency (ID) and anemia have been insufficiently studied in this group. Objectives: To evaluate the prevalence and clinical impact of iron deficiency and anemia in ACHD, particularly their relationship with exercise capacity. Methods: We retrospectively analyzed 310 ACHD patients at University Hospital Düsseldorf between January 2017 and January 2019. Iron status was assessed using serum ferritin, transferrin saturation (TSAT), and hemoglobin levels. Exercise capacity was measured by cardiopulmonary exercise testing (VO₂ max). Prevalence and clinical associations were compared with those reported in heart failure populations, using ESC guideline criteria. Analyses were adjusted for age, sex, and defect complexity. Results: Iron deficiency (ID) was present in 183 patients (59.0%). Anemia was observed in 13 patients (4.2%), with 6 (46.2%) classified as microcytic and 5 (38.5%) as normocytic. Reduced exercise capacity, defined as VO₂ max <80% of predicted, was present in 51 patients (16.5%), occurring more frequently in those with complex CHD (31.3% vs. 11.3%, p < 0.001). ID was associated with a trend toward lower VO₂ max (21.3 vs. 23.5 mL/min/kg, p = 0.068), while anemia correlated with significantly reduced performance (19.8 ± 4.1 vs. 22.9 ± 6.3 mL/min/kg, p = 0.041). Conclusions: Iron deficiency is highly prevalent, and anemia—though less common—was consistently associated with reduced functional capacity in ACHD. These findings highlight the need for targeted screening and management strategies in this growing patient population. Full article

(This article belongs to the Special Issue Diagnosis and Management of Congenital Heart Disease)

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11 pages, 830 KiB

Open AccessCase Report

Severe Hereditary Hypofibrinogenemia in Pregnancy: A Case Report of a Novel Obstetrical Management with Thromboelastometry Guided Fibrinogen Supplementation

by Grigorios Karampas, Konstantinos Karkalemis, Anastasia Bagiasta, Maria-Ekaterini Lefaki, Dimitra Metallinou, Chryssoula Staikou, Zoi Iliodromiti, Rozeta Sokou, Kassandra Tataropoulou, Theodora Boutsikou, Makarios Eleftheriades, Nikolaos Vlahos, Panagiotis Christopoulos and Marianna Politou

Diagnostics 2025, 15(13), 1671; https://doi.org/10.3390/diagnostics15131671 - 30 Jun 2025

Abstract

Background and Clinical Significance: Hereditary Fibrinogen Disorders (HFDs) are a group of rare, inherited coagulation disorders with a wide spectrum of clinical presentations, ranging from asymptomatic cases to severe bleeding or thrombotic events. Among these, hereditary hypofibrinogenemia (HH) poses particular challenges in [...] Read more.

Background and Clinical Significance: Hereditary Fibrinogen Disorders (HFDs) are a group of rare, inherited coagulation disorders with a wide spectrum of clinical presentations, ranging from asymptomatic cases to severe bleeding or thrombotic events. Among these, hereditary hypofibrinogenemia (HH) poses particular challenges in obstetric care due to its unpredictable course and limited evidence-based guidelines. Case Presentation: This case report describes the novel obstetrical management of a 37 years old multiparous woman with severe HH (SHH) guided not only by fibrinogen levels but also by rotational thromboelastometry (ROTEM^®), a global test of hemostasis using specific parameters such as FIBTEM^® and NATEM^® assays. Despite persistent low fibrinogen levels during labor and peripartum (<100 mg/dL), favorable maternal and neonatal outcomes were achieved by relying on ROTEM^®-based parameters to guide clinical decisions. Conclusions: Current recommendations for managing pregnancies in women with HFDs are largely based on expert consensus and exclusively use fibrinogen levels. This case supports the use of specific assays (FIBTEM^® and NATEM^®) of the ROTEM^® global test of hemostasis as valuable tools in the obstetric management of women with HH. The use of FIBTEM^® and NATEM^® assays could provide individualized perinatal care, avoiding unnecessary therapeutic interventions and aiming for optimal perinatal outcomes. Full article

(This article belongs to the Section Clinical Laboratory Medicine)

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20 pages, 7661 KiB

Open AccessSystematic Review

Hybrid PET/MRI in Inflammatory Cardiac Diseases: A Systematic Review and Single-Center Experience

by Marco Fogante, Giulia Argalia, Paolo Esposto Pirani, Cinzia Romagnolo, Liliana Balardi, Giulio Argalia, Fabio Massimo Fringuelli and Nicolò Schicchi

Diagnostics 2025, 15(13), 1670; https://doi.org/10.3390/diagnostics15131670 - 30 Jun 2025

Abstract

Background/Objectives: Hybrid positron emission tomography/magnetic resonance imaging (PET/MRI) is an emerging imaging modality that combines metabolic and anatomical data in a single session, offering promising diagnostic performance in various cardiac conditions. However, its role in inflammatory cardiac diseases (ICDs), such as myopericarditis and [...] Read more.

Background/Objectives: Hybrid positron emission tomography/magnetic resonance imaging (PET/MRI) is an emerging imaging modality that combines metabolic and anatomical data in a single session, offering promising diagnostic performance in various cardiac conditions. However, its role in inflammatory cardiac diseases (ICDs), such as myopericarditis and endocarditis, remains underexplored. This study aims to evaluate the diagnostic value of PET/MRI in ICDs through a systematic review of the literature, complemented by our institutional experience. Methods: We conducted a systematic review of PubMed, Scopus, and Embase up to April 2025, using keywords including “PET/MRI,” “PET/MR”, “myocarditis”, “endocarditis”, “pericarditis”, “inflammatory heart disease”, and “inflammatory cardiac disease”. Studies reporting the use of hybrid PET/MRI in ICDs were included and analyzed. Additionally, we retrospectively reviewed clinical and imaging data from 33 consecutive patients who underwent PET/MRI in our center for suspected myopericarditis or endocarditis between September 2022 and March 2025. Results: The systematic review identified 12 eligible studies evaluating PET/MRI in ICDs, highlighting its added value in cases with inconclusive findings on standalone MRI or PET. Common advantages reported included improved localization of active inflammation, better characterization of tissue damage, and enhanced diagnostic confidence. In our cohort, hybrid PET/MRI was considered diagnostically useful in 16/21 (76%) of myopericarditis cases and 9/12 (75%) of endocarditis cases, particularly for reclassifying uncertain findings and guiding clinical management. Conclusions: The combined analysis of the current literature and real-world clinical experience supports the diagnostic utility of hybrid PET/MRI in the evaluation of ICDs. This multimodal approach improves the interpretation of equivocal cases, facilitates accurate diagnosis, and may influence therapeutic decisions. However, larger prospective studies are needed to confirm these findings and establish standardized protocols. Full article

(This article belongs to the Special Issue Hybrid PET/MR Imaging: Technological Advances and Multidisciplinary Clinical Applications)

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26 pages, 2115 KiB

Open AccessArticle

Proinflammatory Cytokines in Women with PCOS in Atypical Pathogen Infections

by Izabela Chudzicka-Strugała, Iwona Gołębiewska, Grzegorz Brudecki, Wael Elamin, Beata Banaszewska, Marta Chudzicka-Adamczak, Dominik Strugała and Barbara Zwoździak

Diagnostics 2025, 15(13), 1669; https://doi.org/10.3390/diagnostics15131669 - 30 Jun 2025

Abstract

Background/Objectives: Polycystic ovary syndrome (PCOS) is one of the most frequently diagnosed endocrine and metabolic disorders in women of reproductive age before menopause. It is associated with excess androgens and ovarian dysfunction, reduced fertility, the presence of obstetric disorders, but also metabolic disorders, [...] Read more.

Background/Objectives: Polycystic ovary syndrome (PCOS) is one of the most frequently diagnosed endocrine and metabolic disorders in women of reproductive age before menopause. It is associated with excess androgens and ovarian dysfunction, reduced fertility, the presence of obstetric disorders, but also metabolic disorders, and, among others, insulin resistance, obesity and type II diabetes. Its close relationship with changes in the diversity of the vaginal microbiome, vaginal inflammation and changes in the vaginal microenvironment, which can pave the way for pathogenic microorganisms, is emphasized. Methods: The research in the presented paper focuses on a group of women with PCOS (n = 490) of reproductive age (26–43 years), in whom the frequency of infections of the reproductive system caused by atypical pathogens, Chlamydia trachomatis, Mycoplasma hominis and Ureaplasma spp., were analyzed, and then the immune system response was assessed in terms of the level of serum proinflammatory cytokines, IL-1β, IL-6 and TNF-α. Results: Our results showed a 40% infection rate in the studied group of patients with PCOS, with C. trachomatis being the most common pathogen (17.7%), followed by Ureaplasma spp. (10%) and M. hominis (4.9%). In some cases, co-infections such as Mycoplasma and Ureaplasma were also observed in 3.1% or all three atypical bacteria, M. hominis, Ureaplasma spp. and C. trachomatis, in 4.3% of patients with PCOS. In our study, in women with PCOS and confirmed infection with any atypical pathogen (n = 196), we analyzed the levels of proinflammatory cytokines, IL-1 β a, IL-6 and TNF-α. The results were compared with a control group (control group A) consisting of patients with the same underlying disease, i.e., PCOS (n = 39), who did not experience infection with atypical pathogens or symptoms of gynecological infection. Additionally, a control group B (n = 28) consisting of healthy women (without PCOS and without infection) was introduced. The results regarding the levels of cytokines studied in this work (IL-1β, IL-6, TNF-α) may suggest that the presence of intracellular C. trachomatis in the infection will play a dominant role in the immune system response. In the infections with atypical pathogens analyzed in this study in patients with PCOS, no characteristic clinical features were observed, apart from indications in the form of an increase in the number of leukocytes in the assessment of the vaginal biocenosis, suggesting cervicitis and reported reproductive failure or lower abdominal pain. An additional problem is the inability to detect the presence of atypical pathogens in routine microbiological tests; therefore, confirmation of such etiology requires referral of the patient for targeted tests. Conclusions: Invasion of host cells by atypical pathogens such as C. trachomatis and infections with “genital mycoplasmas” can disrupt the function of these cells and lead to many complications, including infertility. The immune response with the production of proinflammatory cytokines such as TNF-α, IL-1β, and IL-6, observed in response to infection with C. trachomatis, M. hominis, and Ureaplasma spp., induces or amplifies inflammation by activating immune cells or controlling infection, but may lead to the facilitation of the survival of pathogenic microorganisms and irreversible damage to fallopian tube tissues. Especially in the case of the proinflammatory cytosine TNF-α, there seems to be a close correlation with infections with atypical pathogens and a marked immune response, as well as with increased IL-1β and IL-6 values compared with the absence of infection (both in the presence and absence of PCOS). The presented study may suggest the importance of extended diagnostics to include atypical pathogens in the case of PCOS and the importance of research in this area also from the point of view of the immune response. Full article

(This article belongs to the Special Issue Diagnosis and Management of Gynecological Diseases in 2025)

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3 pages, 472 KiB

Open AccessInteresting Images

Right Vertebral Artery Intermittent Flow Reversal Due to Innominate Artery Dissection

by Corrado Tagliati, Alessia Quaranta, Marco Fogante, Stefania Lamja, Alfonso Alberto Matarrese, Davide Battista, Giulio Cocco, Giuseppe Lanni, Alberto Rebonato, Fabiola Principi, Giulio Argalia, Antonio Corvino, Iacopo Carbone, Ernesto Di Cesare and Nicolò Schicchi

Diagnostics 2025, 15(13), 1668; https://doi.org/10.3390/diagnostics15131668 - 30 Jun 2025

Abstract

Here, we describe a case of an asymptomatic 73-year-old female patient who suffered from type A acute aortic dissection with epiaortic arteries involvement and underwent surgical operation 9 years ago. A follow-up color Doppler ultrasound revealed a right vertebral artery intermittent flow reversal [...] Read more.

Here, we describe a case of an asymptomatic 73-year-old female patient who suffered from type A acute aortic dissection with epiaortic arteries involvement and underwent surgical operation 9 years ago. A follow-up color Doppler ultrasound revealed a right vertebral artery intermittent flow reversal due to innominate artery dissection. To our knowledge, no previous studies have reported this intermittent flow reversal; therefore, supra-aortic trunks should be considered among the possible causes of vertebral artery flow reversal. Full article

(This article belongs to the Collection Interesting Images)

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10 pages, 1652 KiB

Open AccessArticle

Enhancing Transradial Transarterial Microembolization Efficiency and Patient Satisfaction with Oral Benzodiazepine Premedication

by Hsuan-Yin Lin and Ming-Chuan Chiang

Diagnostics 2025, 15(13), 1667; https://doi.org/10.3390/diagnostics15131667 - 30 Jun 2025

Abstract

Objectives: To evaluate the impact of benzodiazepines (BZDs) on pre-procedural anxiety, procedural parameters, post-procedural pain, and satisfaction in transarterial microembolization (TAME). Methods: Retrospective analysis of prospectively collected data from 31 patients with refractory upper extremity pain treated with transradial TAME in [...] Read more.

Objectives: To evaluate the impact of benzodiazepines (BZDs) on pre-procedural anxiety, procedural parameters, post-procedural pain, and satisfaction in transarterial microembolization (TAME). Methods: Retrospective analysis of prospectively collected data from 31 patients with refractory upper extremity pain treated with transradial TAME in 2023. Patients were divided into a non-BZD group (n = 15; 8 female; age 59.3 ± 9.5 y) and a BZD group (n = 16; 10 female; age 53.3 ± 9.9 y). Pre-procedural anxiety (five-point Likert scale), satisfaction (Likert), and pain (Visual Analog Scale, VAS) were assessed. Satisfaction and pain were evaluated immediately and 1 and 3 months post-procedure. Results: Baseline demographics, intra-procedural variables, and post-procedural reductions in VAS scores showed no significant intergroup differences (all p > 0.05). However, compared to the non-BZD group, the BZD group exhibited a significant reduction in anxiety scores (1.12 vs. 3.80; p = 0.04) and procedure time per artery (23.58 vs. 34.81 min; p = 0.001). The BZD group also reported significantly higher immediate, short-term, and mid-term satisfaction (4.25 vs. 3.13, p = 0.045; 4.69 vs. 3.67, p = 0.01; 4.81 vs. 3.80, p < 0.001), and a significantly greater proportion exhibited artery diameters ≥ 2 mm (p = 0.02). Conclusions: TAME with oral BZD premedication significantly improves patient satisfaction, reduces anxiety, and promotes a high proportion of arterial diameters ≥ 2 mm, thereby reducing procedural time. Full article

(This article belongs to the Special Issue Clinical Diagnosis and Treatment of Chronic Pain, Second Edition)

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11 pages, 2494 KiB

Open AccessCase Report

Prenatal Phenotype in a Neonate with Prader–Willi Syndrome and Literature Review

by Libing Luo, Mary Hoi Yin Tang, Shengmou Lin, Anita Sik-Yau Kan, Cindy Ka Yee Cheung, Xiaoying Dai, Ting Zeng, Yanyan Li, Lilu Nong, Haibo Huang, Chunchun Chen, Yue Xu and Kelvin Yuen Kwong Chan

Diagnostics 2025, 15(13), 1666; https://doi.org/10.3390/diagnostics15131666 - 30 Jun 2025

Abstract

Background and Clinical Significance: Prader–Willi syndrome (PWS) is a rare genetic disease caused by imprinted gene dysfunction, typically involving deletion of the chromosome 15q11.2-q13 region, balanced translocation, or related gene mutations in this region. PWS presents with complex and varied clinical manifestations. Abnormalities [...] Read more.

Background and Clinical Significance: Prader–Willi syndrome (PWS) is a rare genetic disease caused by imprinted gene dysfunction, typically involving deletion of the chromosome 15q11.2-q13 region, balanced translocation, or related gene mutations in this region. PWS presents with complex and varied clinical manifestations. Abnormalities can be observed from the fetal stage and change with age, resulting in growth, developmental, and metabolic issues throughout different life stages. Case Presentation: We report the prenatal characteristics observed from the second to third trimester of pregnancy in a neonate with PWS. Prenatal ultrasound findings included a single umbilical artery, poor abdominal circumference growth from 26 weeks, normal head circumference and femur length growth, increased amniotic fluid volume after 30 weeks, undescended fetal testicles in the third trimester, small kidneys, and reduced fetal movement. The male infant was born at 38 weeks of gestation with a birth weight of 2580 g. He had a weak cry; severe hypotonia; small eyelid clefts; bilateral cryptorchidism; low responsiveness to medical procedures such as blood drawing; and poor sucking, necessitating tube feeding. Blood methylation-specific multiple ligation-dependent probe amplification (MS-MLPA) showed paternal deletion PWS. Notably, this case revealed two previously unreported prenatal features in PWS: a single umbilical artery and small kidneys. Conclusions: Through literature review and our case presentation, we suggest that a combination of specific sonographic features, including these newly identified markers, may aid clinicians in the early diagnosis of PWS. Full article

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

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9 pages, 3832 KiB

Open AccessCase Report

Non-Invasive Diagnostic Imaging in Kaposi Sarcoma Evaluation

by Carmen Cantisani, Antonio Di Guardo, Marco Ardigò, Mariano Suppa, Salvador Gonzalez, Caterina Longo, Alberto Taliano, Emanuele Rovaldi, Elisa Cinotti and Giovanni Pellacani

Diagnostics 2025, 15(13), 1665; https://doi.org/10.3390/diagnostics15131665 - 30 Jun 2025

Abstract

Background and Clinical Significance: Kaposi sarcoma (KS) is a rare angio-proliferative mesenchymal tumor that predominantly affects the skin and mucous membranes but may involve lymph nodes and visceral organs. Clinically, it manifests as red-purple-brown papules, nodules, or plaques, either painless or painful, often [...] Read more.

Background and Clinical Significance: Kaposi sarcoma (KS) is a rare angio-proliferative mesenchymal tumor that predominantly affects the skin and mucous membranes but may involve lymph nodes and visceral organs. Clinically, it manifests as red-purple-brown papules, nodules, or plaques, either painless or painful, often with disfiguring potential. The diagnosis is traditionally based on clinical and histopathological evaluation, although non-invasive imaging techniques are increasingly used to support diagnosis and treatment monitoring. We report a case of HHV-8-negative Kaposi sarcoma evaluated with multiple non-invasive imaging modalities to highlight their diagnostic utility. Case Presentation: An 83-year-old man presented with multiple painful, violaceous papulo-nodular lesions, some ulcerated, on the lateral aspect of his left foot. Dermoscopy revealed the characteristic rainbow pattern. Dynamic Optical Coherence Tomography (D-OCT) allowed real-time visualization of microvascular abnormalities, identifying large serpentine and branching vessels with clearly delineated capsules. Line-field Optical Coherence Tomography (LC-OCT) showed irregular dermal collagen, vascular lacunae, and the presence of spindle cells and slit-like vessels. Histological analysis confirmed the diagnosis of Kaposi sarcoma, revealing a proliferation of spindle-shaped endothelial cells forming angulated vascular spaces, with red blood cell extravasation and a mixed inflammatory infiltrate. Conclusions: Non-invasive imaging tools, including dermoscopy, D-OCT, and LC-OCT, have emerged as valuable adjuncts in the diagnosis and monitoring of KS. These techniques enable in vivo assessment of vascular architecture and tissue morphology, enhancing clinical decision-making while reducing the need for immediate biopsy. Dermoscopy reveals polychromatic vascular features, such as the rainbow pattern, while D-OCT and LC-OCT provide high-resolution insights into vascular proliferation, tissue heterogeneity, and cellular morphology. Dermoscopy, dynamic OCT, and LC-OCT represent promising non-invasive diagnostic tools for the assessment of Kaposi sarcoma. These technologies provide detailed morphological and vascular information, enabling earlier diagnosis and more personalized management. While histopathology remains the gold standard, non-invasive imaging offers a valuable complementary approach for diagnosis and follow-up, particularly in complex or atypical presentations. Ongoing research and technological refinement are essential to improve accessibility and clinical applicability. Full article

(This article belongs to the Special Issue Optical Coherence Tomography in Non-Invasive Diagnostic Imaging)

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19 pages, 620 KiB

Open AccessArticle

Software-Based Transformation of White Light Endoscopy Images to Hyperspectral Images for Improved Gastrointestinal Disease Detection

by Chien-Wei Huang, Chang-Chao Su, Chu-Kuang Chou, Arvind Mukundan, Riya Karmakar, Tsung-Hsien Chen, Pranav Shukla, Devansh Gupta and Hsiang-Chen Wang

Diagnostics 2025, 15(13), 1664; https://doi.org/10.3390/diagnostics15131664 - 30 Jun 2025

Abstract

Background/Objectives: Gastrointestinal diseases (GID), such as oesophagitis, polyps, and ulcerative colitis, contribute significantly to global morbidity and mortality. Conventional diagnostic methods employing white light imaging (WLI) in wireless capsule endoscopy (WCE) provide limited spectrum information, therefore influencing classification performance. Methods: A new technique [...] Read more.

Background/Objectives: Gastrointestinal diseases (GID), such as oesophagitis, polyps, and ulcerative colitis, contribute significantly to global morbidity and mortality. Conventional diagnostic methods employing white light imaging (WLI) in wireless capsule endoscopy (WCE) provide limited spectrum information, therefore influencing classification performance. Methods: A new technique called Spectrum Aided Vision Enhancer (SAVE), which converts traditional WLI images into hyperspectral imaging (HSI)-like representations, hence improving diagnostic accuracy. HSI involves the acquisition of image data across numerous wavelengths of light, extending beyond the visible spectrum, to deliver comprehensive information regarding the material composition and attributes of the imaged objects. This technique facilitates improved tissue characterisation, rendering it especially effective for identifying abnormalities in medical imaging. Using a carefully selected dataset consisting of 6000 annotated photos taken from the KVASIR and ETIS-Larib Polyp Database, this work classifies normal, ulcers, polyps, and oesophagitis. The performance of both the original WLI and SAVE transformed images was assessed using advanced deep learning architectures. The principal outcome was the overall classification accuracy for normal, ulcer, polyp, and oesophagitis categories, contrasting SAVE-enhanced images with standard WLI across five deep learning models. Results: The principal outcome of this study was the enhancement of diagnostic accuracy for gastrointestinal disease classification, assessed through classification accuracy, precision, recall, and F1 score. The findings illustrate the efficacy of the SAVE method in improving diagnostic performance without requiring specialised equipment. With the best accuracy of 98% attained using EfficientNetB7, compared to 97% with WLI, experimental data show that SAVE greatly increases classification metrics across all models. With relative improvement from 85% (WLI) to 92% (SAVE), VGG16 showed the highest accuracy. Conclusions: These results confirm that the SAVE algorithm significantly improves the early identification and classification of GID, therefore providing a potential development towards more accurate, non-invasive GID diagnostics with WCE. Full article

(This article belongs to the Special Issue Artificial Intelligence and Deep Learning in Clinical Classification and Prediction)

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