Journal Description
Diagnostics
Diagnostics
is an international, peer-reviewed, open access journal on medical diagnosis published semimonthly online by MDPI. The British Neuro-Oncology Society (BNOS), the International Society for Infectious Diseases in Obstetrics and Gynaecology (ISIDOG) and the Swiss Union of Laboratory Medicine (SULM) are affiliated with Diagnostics and their members receive a discount on the article processing charges.
- Open Access— free for readers, with article processing charges (APC) paid by authors or their institutions.
- High Visibility: indexed within Scopus, SCIE (Web of Science), PubMed, PMC, Embase, Inspec, CAPlus / SciFinder, and other databases.
- Journal Rank: JCR - Q1 (Medicine, General and Internal) / CiteScore - Q2 (Internal Medicine)
- Rapid Publication: manuscripts are peer-reviewed and a first decision is provided to authors approximately 21 days after submission; acceptance to publication is undertaken in 2.6 days (median values for papers published in this journal in the first half of 2025).
- Recognition of Reviewers: reviewers who provide timely, thorough peer-review reports receive vouchers entitling them to a discount on the APC of their next publication in any MDPI journal, in appreciation of the work done.
- Companion journals for Diagnostics include: LabMed and AI in Medicine.
Impact Factor:
3.3 (2024);
5-Year Impact Factor:
3.3 (2024)
Latest Articles
Innovative Dynamic Ultrasound Diagnosis of First Rib Stress Fracture in an Adolescent Athlete—A Case Report
Diagnostics 2025, 15(19), 2437; https://doi.org/10.3390/diagnostics15192437 - 24 Sep 2025
Abstract
Background: First rib stress fractures (FRSFs) are exceptionally rare in skeletally immature athletes and are frequently overlooked because their symptoms mimic more common scapular conditions such as scapular dyskinesis or thoracic outlet syndrome. Early and accurate identification is critical to avoid delayed union,
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Background: First rib stress fractures (FRSFs) are exceptionally rare in skeletally immature athletes and are frequently overlooked because their symptoms mimic more common scapular conditions such as scapular dyskinesis or thoracic outlet syndrome. Early and accurate identification is critical to avoid delayed union, prolonged disability, and misdirected management. Case Presentation: We report a 12-year-old elite baseball pitcher with progressive scapular winging and audible snapping during pitching. Unlike typical posterior-type fractures near the costotransverse joint, imaging revealed a cortical discontinuity precisely at the serratus anterior enthesis, consistent with repetitive traction enthesopathy. High-resolution musculoskeletal ultrasound (MSK-US) identified cortical disruption with periosteal edema, and dynamic ultrasound reproduced the patient’s snapping and pain in real time, establishing a direct clinical–imaging correlation. Conservative three-phase rehabilitation (scapular stabilization, serratus anterior activation, and structured return-to-throwing) led to complete union and pain-free return to sport within 12 weeks. Discussion: This case highlights the superior diagnostic efficacy of MSK-US for FRSFs in adolescents. The posterior scanning approach facilitated bilateral comparison and growth plate assessment. Dynamic examination provided a functional correlation beyond static imaging, identifying a novel snapping mechanism. This underscores the value of MSK-US in visualizing not just anatomy but also pathophysiology. Conclusions: This is among the youngest documented cases of first rib stress fracture diagnosed with dynamic ultrasound. Its novelty lies in the following: (1) occurrence at the serratus anterior enthesis, (2) reproduction of snapping during provocative maneuvers, and (3) expansion of the etiological spectrum of scapular dyskinesis to include rib pathology. Dynamic ultrasound should be considered a frontline modality for adolescent throwers with unexplained periscapular pain.
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(This article belongs to the Special Issue Expanding Horizons in Fascial Diagnostics and Interventions)
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Open AccessArticle
Fluorescence-Based In Vitro Detection of Wound-Associated Bacteria with a Handheld Imaging System
by
Jonas Horn, Anna Dalinskaya, Emil Paluch, Finn-Ole Nord and Johannes Ruopp
Diagnostics 2025, 15(19), 2436; https://doi.org/10.3390/diagnostics15192436 - 24 Sep 2025
Abstract
Background: Chronic and acute wounds are often colonized by polymicrobial biofilms, delaying healing and complicating treatment. Rapid, non-invasive detection of pathogenic bacteria is therefore crucial for timely and targeted therapy. This study investigated porphyrin-producing bacterial species using the handheld cureVision imaging system. Methods:
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Background: Chronic and acute wounds are often colonized by polymicrobial biofilms, delaying healing and complicating treatment. Rapid, non-invasive detection of pathogenic bacteria is therefore crucial for timely and targeted therapy. This study investigated porphyrin-producing bacterial species using the handheld cureVision imaging system. Methods: In this study, 20 clinically relevant, porphyrin-producing bacterial species were cultured on δ-aminolevulinic acid (ALA)-supplemented agar and analyzed using the handheld cureVision imaging system under 405 nm excitation. Both Red-Green-Blue (RGB) and fluorescence images were acquired under ambient daylight conditions, and fluorescence signals were quantified by grayscale intensity analysis. Results: All tested species exhibited measurable red porphyrin-associated fluorescence, with the highest intensities observed in Klebsiella pneumoniae, Klebsiella oxytoca, Veillonella parvula, and Alcaligenes faecalis. A standardized detectability threshold of 0.25, derived from negative controls, enabled semi-quantitative comparison across species. Statistical analysis confirmed that the fluorescence intensities of all bacterial samples were significantly elevated compared to the control (Wilcoxon signed-rank test and sign test, both p < 0.001; median intensity = 0.835, IQR: 0.63–0.975). Conclusions: These results demonstrate that the cureVision system enables robust and reliable detection of porphyrin-producing wound bacteria, supporting its potential as a rapid, non-invasive diagnostic method for assessing wound colonization and guiding targeted clinical interventions.
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(This article belongs to the Section Medical Imaging and Theranostics)
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Open AccessArticle
A Questionnaire-Derived Prediction Nomogram for Affected Semicircular Canal and Laterality of Benign Paroxysmal Positional Vertigo
by
Linlin Wang, Kaijun Xia, Yangming Leng, Renhong Zhou, Jingjing Liu, Hongchang Wang, Hongjun Xiao and Bo Liu
Diagnostics 2025, 15(19), 2435; https://doi.org/10.3390/diagnostics15192435 - 24 Sep 2025
Abstract
Objective: To investigate whether a detailed historical questionnaire can predict the affected semicircular canal and lateralization in patients with benign paroxysmal positional vertigo (BPPV). Methods: In this retrospective study, 459 patients with positional vertigo were evaluated, of whom 236 patients diagnosed
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Objective: To investigate whether a detailed historical questionnaire can predict the affected semicircular canal and lateralization in patients with benign paroxysmal positional vertigo (BPPV). Methods: In this retrospective study, 459 patients with positional vertigo were evaluated, of whom 236 patients diagnosed with BPPV completed a symptom-based questionnaire. Based on the questionnaire data, logistic regression models were developed to predict lateralization and the affected semicircular canal. The clinical diagnosis of BPPV served as the reference standard. A nomogram was constructed based on the final logistic regression model, and model performance was evaluated using area under the receiver operating characteristic curve (AUC) in both training and validation cohorts. Results: Among 220 BPPV patients included, 152 (69.09%) were diagnosed with posterior semicircular canal BPPV (PSC-BPPV), 49 (22.27%) with horizontal semicircular canal canalolithiasis (HSC-BPPV-can), and 19 (8.64%) with horizontal semicircular canal cupulolithiasis (HSC-BPPV-cup). Waking up, lying down and rotating the head toward the left/right in the supine position, triggering vertigo, were significant predictors of the affected semicircular canal. Rotating the head toward the left/right in the supine position and vertigo duration were significantly predictors for lateralization. The AUCs were 0.787 and 0.714 for lateralization, and 0.814 and 0.842 for canal prediction in training and validation cohorts, respectively. Conclusions: The nomogram demonstrated good consistency with the reference standard diagnoses and may facilitate the identification of the affected side and canal in BPPV.
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(This article belongs to the Section Clinical Diagnosis and Prognosis)
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Prognostic Potential of Cancer-Associated Fibroblast Surface Markers and Their Specific DNA Methylation in Prostate Cancer
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Mark Jain, Olga Nesterova, Mikhail Varentsov, Nina Oleynikova, Aleksandra Vasiukova, Sofia Navruzova, German Golubin, Larisa Samokhodskaya, Pavel Malkov and Armais Kamalov
Diagnostics 2025, 15(19), 2434; https://doi.org/10.3390/diagnostics15192434 - 24 Sep 2025
Abstract
Background: Cancer-associated fibroblasts (CAFs) are a key component of the prostate cancer (PCa) microenvironment, the abundance of which is often linked to poor prognosis. The surface markers for CAFs are mostly established, yet our current knowledge of epigenetic alterations in them remains limited.
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Background: Cancer-associated fibroblasts (CAFs) are a key component of the prostate cancer (PCa) microenvironment, the abundance of which is often linked to poor prognosis. The surface markers for CAFs are mostly established, yet our current knowledge of epigenetic alterations in them remains limited. The aim of this study was to evaluate the relationship between CAF-specific DNA methylation, their abundance and the PCa prognosis. Methods: The study included 88 PCa patients with known presence or absence of a biochemical recurrence within a 6-year period. Resected PCa tissue was assessed for the surface expression of FAP, PDGFRb, CD90, and POST, and for the methylation of EDARADD, GATA6, and PITX2 genes using qPCR and ddPCR. Results: The surface expression of FAP, PDGFRb and CD90 was associated with a higher Gleason score (p < 0.05). The analytical sensitivity of ddPCR was superior to qPCR; results obtained using ddPCR demonstrated a more significant association with clinical features of PCa. EDARADD methylation and PDGFRb expression were associated with a risk of biochemical recurrence (HR–0.961 [95% CI: 0.931–0.991] and HR–2.313 [95% CI: 1.054–5.088]; p < 0.05, respectively). Conclusions: Upon further validation, the abundance of CAFs and their specific methylation might become a promising tool for the assessment of prognosis in PCa after radical treatment.
Full article
(This article belongs to the Special Issue An Update on Molecular Diagnostics in Prostate Cancer)
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Open AccessArticle
Diagnostic Efficacy of Olfactory Function Test Using Functional Near-Infrared Spectroscopy with Machine Learning in Healthy Adults: A Prospective Diagnostic-Accuracy (Feasibility/Validation) Study in Healthy Adults with Algorithm Development
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Minhyuk Lim, Seonghyun Kim, Dong Keon Yon and Jaewon Kim
Diagnostics 2025, 15(19), 2433; https://doi.org/10.3390/diagnostics15192433 - 24 Sep 2025
Abstract
Background/Objectives: The YSK olfactory function (YOF) test is a culturally adapted psychophysical tool that assesses threshold, discrimination, and identification. This study evaluated whether functional near-infrared spectroscopy (fNIRS) synchronized with routine YOF testing, combined with machine learning, can predict YOF subdomain performance in
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Background/Objectives: The YSK olfactory function (YOF) test is a culturally adapted psychophysical tool that assesses threshold, discrimination, and identification. This study evaluated whether functional near-infrared spectroscopy (fNIRS) synchronized with routine YOF testing, combined with machine learning, can predict YOF subdomain performance in healthy adults, providing an objective neural correlate to complement behavioral testing. Methods: In this prospective diagnostic-accuracy (feasibility/validation) study in healthy adults with algorithm development, 100 healthy adults completed the YOF test while undergoing prefrontal/orbitofrontal fNIRS during odor blocks. Feature sets from ΔHbO/ΔHbR included time-domain descriptors, complexity (Lempel–Ziv), and information-theoretic measures (mutual information); the identification task used a hybrid attention–CNN. Separate models were developed for threshold (binary classification), discrimination (binary classification), and identification (binary classification). Performance was summarized with accuracy, area under the curve (AUC), F1-score, and (where applicable) sensitivity/specificity, using participant-level cross-validation. Results: The threshold classifier achieved accuracy 0.86, AUC 0.86, and F1 0.86, indicating strong discrimination of correct vs. incorrect threshold responses. The discrimination model yielded accuracy 0.75, AUC 0.76, and F1 0.75. The identification model (attention–convolutional neural network [CNN]) achieved accuracy 0.88, sensitivity 0.86, specificity 0.91, and F1 0.88. Feature-attribution (e.g., SHapley Additive exPlanations [SHAP]) provided interpretable links between fNIRS features and task performance for threshold and discrimination. Conclusions: Olfactory-evoked fNIRS signals can accurately predict YOF subdomain performance in healthy adults, supporting the feasibility of non-invasive, portable, near–real-time olfactory monitoring. These findings are preliminary and not generalizable to clinical populations; external validation in diverse cohorts is warranted. The approach clarifies the scientific essence of the method by (i) aligning psychophysical outcomes with objective hemodynamic signatures and (ii) introducing a feature-rich modeling pipeline (ΔHbO/ΔHbR + Lempel–Ziv complexity/mutual information; attention–CNN) that advances prior work.
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(This article belongs to the Section Machine Learning and Artificial Intelligence in Diagnostics)
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The Diagnostic Value of Multimodal Contrast-Enhanced Ultrasound in Sentinel Lymph Nodes After Neoadjuvant Therapy for Breast Cancer
by
Jiaqian Zhong, Jia Luo, Jiaping Li, Manying Li, Yingli Liu, Jinyu Liang, Fushun Pan, Xiaoyan Xie and Yanling Zheng
Diagnostics 2025, 15(19), 2432; https://doi.org/10.3390/diagnostics15192432 - 24 Sep 2025
Abstract
Objective: Accurate diagnosis of sentinel lymph node (SLN) status after neoadjuvant therapy (NAT) for breast cancer is crucial for guiding axillary management. This study aimed to evaluate novel contrast-enhanced ultrasound (CEUS) patterns for assessing SLNs following NAT. Methods: We retrospectively analyzed clinical and
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Objective: Accurate diagnosis of sentinel lymph node (SLN) status after neoadjuvant therapy (NAT) for breast cancer is crucial for guiding axillary management. This study aimed to evaluate novel contrast-enhanced ultrasound (CEUS) patterns for assessing SLNs following NAT. Methods: We retrospectively analyzed clinical and imaging data from 279 breast cancer patients who completed NAT and underwent surgery between June 2019 and December 2024. Preoperative SLN evaluations included percutaneous CEUS (PCEUS), intravenous CEUS (IVCEUS), and conventional ultrasound (CUS). Intraoperative SLN biopsy was performed using methylene blue tracer, with pathological results serving as the gold standard. Diagnostic efficacy was compared among CUS, previously used PCEUS patterns, newly proposed PCEUS, IVCEUS, and combined CEUS. Results: The newly proposed PCEUS classified SLNs into six types, while IVCEUS categorized enhancement into three sequences and four patterns. Among the 347 SLNs detected via PCEUS, 292 (84.15%) were benign and 55 (15.85%) were malignant. The newly proposed PCEUS demonstrated higher diagnostic efficacy compared to CUS, prior PCEUS patterns, IVCEUS, and combined CEUS, with sensitivity, specificity, positive predictive value, negative predictive value, accuracy, and area under the curve of 49.1% (27/55), 86.3% (252/292), 40.3% (27/67), 90.0% (252/280), 80.4% (279/347), and 0.677 (95% CI: 0.625–0.726), respectively. However, DeLong tests revealed no statistically significant differences between the methods (all p > 0.05). Conclusions: The novel CEUS classification improved diagnostic accuracy for SLNs after NAT, though accuracy remains relatively low. Future integration of artificial intelligence may further enhance diagnostic efficacy.
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(This article belongs to the Special Issue Updates on Breast Cancer: Diagnosis and Management)
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Open AccessArticle
Tumor-Infiltrating Lymphocytes Predict Extranodal Extension and Prognosis in Regionally Advanced Oral Cavity Cancer
by
Mia Lorencin Bulic, Martin Jurlina, Danko Müller, Lada Lijovic, Matija Mamic and Ivica Luksic
Diagnostics 2025, 15(19), 2431; https://doi.org/10.3390/diagnostics15192431 - 24 Sep 2025
Abstract
Background/Objectives: Oral cavity squamous cell carcinoma (OCSCC) is an aggressive malignancy, often diagnosed at an advanced stage and with stagnant survival outcomes despite advances in surgical and oncologic management. Tumor-infiltrating lymphocytes (TILs) have been explored as potential prognostic markers in many solid tumors;
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Background/Objectives: Oral cavity squamous cell carcinoma (OCSCC) is an aggressive malignancy, often diagnosed at an advanced stage and with stagnant survival outcomes despite advances in surgical and oncologic management. Tumor-infiltrating lymphocytes (TILs) have been explored as potential prognostic markers in many solid tumors; however, their role in OCSCC remains under researched. This study aimed to assess the prognostic value of TILs in a cohort of patients with regionally advanced, p16-negative squamous cell carcinoma of all oral cavity subsites and to evaluate for any correlation of TILs and extranodal extension (ENE). Methods: A retrospective study was conducted on 103 consecutive patients treated with comprehensive surgical resection. TILs were quantified using the standardized method proposed by the International Immuno-Oncology Biomarkers Working Group. Statistical analyses evaluated associations with a comprehensive set of independent variables and survival endpoints. Results: High stromal infiltration at the invasive margin (>25%) was independently associated with significantly improved overall survival (HR 4.53, p = 0.005), disease-specific survival (HR 4.49, p = 0.008), and disease-free survival (HR 3.42, p = 0.025). Patients with ENE demonstrated lower TILs compared with ENE-negative patients (median 40% vs. 57.5%), a difference that reached statistical significance in both parametric and nonparametric testing (Welch’s t-test p = 0.032; Mann–Whitney U p = 0.030). Conclusions: TILs quantified by this standardized method are a reliable, independent prognostic biomarker in regionally advanced OCSCC of all subsites and are also associated with extranodal extension of regional metases. This study gives rationale for consideration of inclusion of TILS into future immunotherapeutic decision-making and further investigations of TIL-ENE association.
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(This article belongs to the Special Issue Advances in Oral Pathology of Basic and Clinical Cancer Research)
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Open AccessArticle
Comparison of Five Assays for the Detection of Anti-dsDNA Antibodies and Their Correlation with Complement Consumption
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Vincent Ricchiuti, Jacob Obney, Brooke Holloway, Mary Ann Aure, Marti Shapiro, Chelsea Bentow and Michael Mahler
Diagnostics 2025, 15(19), 2430; https://doi.org/10.3390/diagnostics15192430 - 24 Sep 2025
Abstract
Background: Anti-dsDNA is an important biomarker for the diagnosis, prognosis, and monitoring of systemic lupus erythematosus (SLE). Although several assays for anti-dsDNA antibody detection are routinely used, standardization remains limited, and differences have been reported. This study aimed to compare five methods
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Background: Anti-dsDNA is an important biomarker for the diagnosis, prognosis, and monitoring of systemic lupus erythematosus (SLE). Although several assays for anti-dsDNA antibody detection are routinely used, standardization remains limited, and differences have been reported. This study aimed to compare five methods for anti-dsDNA antibody detection and to estimate their association with complement consumption. Methods: A total of 149 samples submitted for routine laboratory testing were collected and tested on five platforms: Crithidia luciliae indirect immunofluorescence test (CLIFT), addressable laser bead immunoassay (ALBIA), a high-avidity (HA) enzyme-linked immunosorbent assay (ELISA), chemiluminescent immunoassay (CIA), and a novel particle-based multi-analyte technology (PMAT). Complements C3 and C4 were available for a subset of the total samples. Results: Correlation between anti-dsDNA assays ranged from 0.94 (CIA and PMAT) to 0.65 (ALBIA and CLIFT). The AUC from the ROC analysis using CLIFT as a reference was 0.95 for PMAT, 0.94 for CIA, 0.93 for ELISA, and 0.86 for ALBIA. The highest sensitivity relative to CLIFT at a fixed specificity of 94.4% was 84.7% for CIA and ELISA, 76.3% for PMAT, and 42.4% for ALBIA. Correlation between anti-dsDNA and C3 ranged from −0.81 for ELISA to −0.51 for ALBIA. Conclusions: Different anti-dsDNA detection methods showed varying diagnostic performance and correlation and varying agreement with CLIFT and complement consumption. ELISA, CIA, and PMAT showed high correlation to each other and to CLIFT and were in strong concordance with low C3 levels. In contrast, ALBIA revealed lower clinical performance and correlation with CLIFT and complement consumption.
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(This article belongs to the Special Issue Recent Advances in Clinical Laboratory Immunology)
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Cytogenetic Profile of Chromosomal Aberrations in Leukemia Using the Fluorescence In Situ Hybridization (FISH) Method at a Tertiary Institution in Gauteng Province
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Zamathombeni Duma, Karabo C. Matsepane, Koketso Nkoana, Sara M. Pheeha, Bathabile Mbele, Tandekile Simela-Tshabalala and Donald M. Tanyanyiwa
Diagnostics 2025, 15(19), 2429; https://doi.org/10.3390/diagnostics15192429 - 24 Sep 2025
Abstract
Background: Leukemia, a hematologic malignancy, is the major fluid tumor. However, there is a paucity in laboratory characterization in South Africa due to limited diagnostic infrastructure. Chromosomal aberrations play a crucial role in leukemia pathogenesis, influencing classification, prognosis, and treatment. Aim: This study
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Background: Leukemia, a hematologic malignancy, is the major fluid tumor. However, there is a paucity in laboratory characterization in South Africa due to limited diagnostic infrastructure. Chromosomal aberrations play a crucial role in leukemia pathogenesis, influencing classification, prognosis, and treatment. Aim: This study aimed to characterize chromosomal aberrations in leukemia patients using the fluorescence in situ hybridization (FISH) method, with the goal of improving diagnostic precision and guiding tailored treatment in resource-limited settings. Methodology: This study was a retrospective analysis of 349 leukemia patient records from the NHLS Corporate Data Warehouse, covering cases diagnosed between January 2019 and January 2024. Chromosomal aberrations were assessed using FISH, including cases of CML, AML, CLL, and ALL. Results: CML was the most prevalent leukemia subtype (40%), followed by AML (31%). Age-specific distributions were significant across subtypes (p < 0.0001). FISH detected subtype-specific aberrations: t(1;19) and t(12;21) in 25% of ALL cases; t(8;21) and t(15;17) in 22–33% of AML cases; and t(9;22) in 100% of CML cases. In CLL, 13q deletions were most common (53% complex, 33% simple). Conclusions: This study reveals distinct chromosomal aberration patterns in leukemia patients in Gauteng, with CML as the most prevalent subtype. Distinct patterns were observed across ALL, AML, and CLL, with age and gender-specific trends. Findings highlight regional genetic influences, diagnostic gaps, and healthcare challenges, emphasizing the urgent need to expand cytogenetic and molecular testing to enable targeted diagnostics, risk stratification, and personalized therapies in sub-Saharan Africa.
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(This article belongs to the Section Pathology and Molecular Diagnostics)
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Elevated Serum Chromogranin-A and Characteristic Duodenal Enteroendocrine Cell Distribution in Pancreatic Fibrosis and Chronic Pancreatitis Compared with Other Dyspeptic Disorders: A Case Series Study
by
Chung-Tsui Huang and Yao-Jen Liang
Diagnostics 2025, 15(19), 2428; https://doi.org/10.3390/diagnostics15192428 - 23 Sep 2025
Abstract
Background: Prior research has reported increased expression of duodenal chromogranin-A (CgA), secreted by enteroendocrine cells (EECs), in association with pancreatic fibrosis. However, it remains unknown whether serum CgA levels are also elevated, and whether there is a different distribution pattern of EECs
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Background: Prior research has reported increased expression of duodenal chromogranin-A (CgA), secreted by enteroendocrine cells (EECs), in association with pancreatic fibrosis. However, it remains unknown whether serum CgA levels are also elevated, and whether there is a different distribution pattern of EECs in pancreatic fibrosis and other dyspeptic causes. Aims: This study had three main objectives. First, to compare the serum CgA level between patients with pancreatic fibrosis and those with other dyspeptic conditions. Second, to analyze the distribution pattern of duodenal EECs. Third, to evaluate whether biopsy results varied depending on the specific location within the duodenum. Serum CgA levels were categorized into low and high groups based on a cutoff value of 50 ng/mL. Methods: This cross-sectional prospective case series included 15 patients, with 4 patients in the low CgA group and 11 in the high CgA group. Each participant underwent a serum CgA test, transabdominal ultrasonography, pancreatic elastography, and upper gastrointestinal endoscopy. During endoscopy, a single gastric biopsy and three duodenal biopsies from different locations were obtained. Results: Patients in the high CgA group were generally older (52–68 years) than those in the low CgA group (37–55 years), with a statistically significant difference (p < 0.01). The high CgA group exhibited a clustered and centralized pattern of EECs, whereas the low CgA group showed a more discrete pattern with fewer EECs (p < 0.01). All duodenal ulcer cases were found in the low CgA group, while three cases of pancreatic fibrosis and one case of chronic pancreatitis were identified in the high CgA group. In the high CgA group, five cases of functional dyspepsia showed a band-like EEC distribution pattern, whereas cases with pancreatic fibrosis demonstrated a more uniformly scattered EEC distribution (p < 0.01). Consistency among intra-individual duodenal biopsy results was high across different biopsy sites. Conclusions: Elevated serum CgA (>50 ng/mL) and specific duodenal EEC distribution patterns may serve as potential diagnostic indicators for pancreatic fibrosis or chronic pancreatitis. These characteristics could help differentiate these conditions from functional dyspepsia.
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(This article belongs to the Section Pathology and Molecular Diagnostics)
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Open AccessArticle
Predictive Value of Arterial Enhancement Fraction Derived from Dual-Layer Spectral Computed Tomography for Thyroid Microcarcinoma
by
Yuwei Chen, Jiayi Yu, Liang Lv, Zuhua Song, Jie Huang, Bi Zhou, Xinghong Zou, Ya Zou and Dan Zhang
Diagnostics 2025, 15(19), 2427; https://doi.org/10.3390/diagnostics15192427 - 23 Sep 2025
Abstract
Background/Objectives: Accurately distinguishing malignancy in thyroid micronodules (≤10 mm) is crucial for clinical management, yet it is challenging due to the limitations of conventional ultrasonography-guided biopsy. This study aims to evaluate the predictive value of dual-layer spectral computed tomography (DSCT)-derived arterial enhancement fraction
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Background/Objectives: Accurately distinguishing malignancy in thyroid micronodules (≤10 mm) is crucial for clinical management, yet it is challenging due to the limitations of conventional ultrasonography-guided biopsy. This study aims to evaluate the predictive value of dual-layer spectral computed tomography (DSCT)-derived arterial enhancement fraction (AEF) in diagnosing thyroid microcarcinomas. Methods: In the study, 321 pathologically confirmed thyroid micronodules (benign = 131, malignant = 190) from Chongqing General Hospital underwent preoperative DSCT. Quantitative parameters of DSCT, including the normalized iodine concentration (NIC), normalized effective atomic number (NZeff), and slope of the spectral Hounsfield unit curve (λHU(40–100)), were assessed. Both single-energy CT (SECT)-derived AEF (AEFS) and DSCT-derived AEF (AEFD) were calculated. Conventional image features included microcalcifications and enhancement blurring. Correlation between AEFD and AEFS was determined using Spearman’s correlation coefficient. Diagnostic performance was evaluated by calculating the area under the curve (AUC) using receiver operating characteristic (ROC) analysis. Results: Malignant micronodules exhibited significantly lower AEFD (0.958 vs. 1.259, p < 0.001) and AEFS (0.964 vs. 1.436, p < 0.001) versus benign nodules. Arterial phase parameters—APλHU(40–100), APNIC, APNZeff—differed significantly between groups (all p < 0.001), whereas venous phase parameters (VPλHU(40–100), VPNIC, VPNZeff) showed no differences (all p > 0.05). Multivariate analysis revealed that λHU(40–100) as an independent predictor of malignancy, with an odds ratio (OR) of 0.600 (95% confidence interval (CI): 0.437–0.823; p = 0.002) and an AUC of 0.752 (95% CI: 0.698–0.806). A significant positive correlation was identified between AEFD and AEFS (r = 0.710; p < 0.001). For diagnosing malignancy, AEFD demonstrated superior overall performance (AUC: 0.794; sensitivity: 70.5%; specificity: 81.7%; accuracy: 75.1%) to AEFS (0.753; 71.1%; 74.0%; 72.3%), APλHU(40–100) (0.752; 68.9%; 75.6%; 71.7%), and calcification (0.573; 21.6%; 92.4%; 50.5%). Clinically, AEFD reduced the unnecessary biopsy rate to 18.3%, preventing 107 procedures in our cohort. Conclusions: AEFD and AEFS demonstrated strong correlation and comparable diagnostic performance in the evaluation of thyroid micronodules. Furthermore, AEFD showed favorable diagnostic efficacy compared to both spectral parameters and conventional imaging feature. More importantly, the application of AEFD significantly reduced unnecessary biopsy rates, highlighting its clinical value in optimizing patient management.
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(This article belongs to the Special Issue Thyroid Cancer: Types, Symptoms, Diagnosis and Management)
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Dual-Energy Computed Tomography (DECT) for Diagnosing Contrast-Induced Encephalopathy (CIE) Mimicking Intracranial Hemorrhage (ICH): A Rare Case
by
Yuhong Shen and Tianhe Ye
Diagnostics 2025, 15(19), 2426; https://doi.org/10.3390/diagnostics15192426 - 23 Sep 2025
Abstract
Contrast-induced encephalopathy (CIE) is a rare complication after percutaneous coronary intervention (PCI) that mimics intracranial hemorrhage (ICH). Its computed tomography (CT) findings (cortical contrast enhancement, sulci effacement) overlap with cerebrovascular conditions (e.g., cerebral infarction, subarachnoid hemorrhage). Dual-energy CT (DECT) differentiates blood/calcification from iodinated
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Contrast-induced encephalopathy (CIE) is a rare complication after percutaneous coronary intervention (PCI) that mimics intracranial hemorrhage (ICH). Its computed tomography (CT) findings (cortical contrast enhancement, sulci effacement) overlap with cerebrovascular conditions (e.g., cerebral infarction, subarachnoid hemorrhage). Dual-energy CT (DECT) differentiates blood/calcification from iodinated contrast medium (CM) extravasation via material decomposition, contributing to the accurate diagnosis of CIE. We report a CIE case highlighting DECT’s value. A 74-year-old woman underwent PCI. 50 min post-PCI, she had moderate headache (Numeric Rating Scale 4), dizziness, non-projectile vomiting (no seizures); vital signs were stable, no focal deficits, mannitol ineffective. Non-contrast CT demonstrated a left parietal 75 Hounsfield unit (HU) high-attenuation lesion, indistinguishable from acute intracerebral hemorrhage. Conventional non-contrast CT revealed a high-attenuation lesion (75 HU) in the left parietal lobe—indistinguishable from ICH. DECT clarified the diagnosis: virtual non-contrast maps showed CM extravasation, iodine concentration maps confirmed focal CM accumulation, and effective atomic number maps improved lesion visualization. The patient’s headache resolved within 5 h; follow-up non-contrast CT at 24 h showed complete disappearance of the lesion. She resumed clopidogrel, discharged day 3 without sequelae. This case underscores DECT’s role in distinguishing CIE (transient CM, normal neuro exam) from ICH (persistent hemorrhage), guiding safe post-PCI antiplatelet therapy.
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(This article belongs to the Special Issue New Trends in Cardiovascular Imaging: 2nd Edition)
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Open AccessReview
Next-Generation Sequencing: A Review of Its Transformative Impact on Cancer Diagnosis, Treatment, and Resistance Management
by
Alexandru Isaic, Nadica Motofelea, Teodora Hoinoiu, Alexandru Catalin Motofelea, Ioan Cristian Leancu, Emanuela Stan, Simona R. Gheorghe, Alina Gabriela Dutu and Andreea Crintea
Diagnostics 2025, 15(19), 2425; https://doi.org/10.3390/diagnostics15192425 - 23 Sep 2025
Abstract
Background/Objectives: Next-Generation Sequencing (NGS) has transformed cancer diagnostics and treatment by enabling comprehensive genomic profiling of tumors. This review aims to summarize the current applications of NGS in oncology, highlighting its role in early detection, precision therapy, and disease monitoring. Methods:
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Background/Objectives: Next-Generation Sequencing (NGS) has transformed cancer diagnostics and treatment by enabling comprehensive genomic profiling of tumors. This review aims to summarize the current applications of NGS in oncology, highlighting its role in early detection, precision therapy, and disease monitoring. Methods: We conducted a comprehensive review of the recent literature, focusing on the application of NGS in cancer care. Results: NGS enables high-resolution genomic profiling, identifying actionable mutations (e.g., EGFR, KRAS, and ALK) and immunotherapy biomarkers (e.g., PD-L1, TMB, and MSI), guiding personalized treatment selection and improving outcomes in advanced malignancies. Liquid biopsy enhances diagnostic accessibility and enables real-time monitoring of minimal residual disease and treatment resistance. Despite these advances, widespread clinical adoption remains constrained by technical limitations (e.g., coverage uniformity and sample quality), economic challenges (high costs and complex reimbursement), and interpretative issues, including the management of variants of uncertain significance (VUSs). Conclusions: NGS is central to precision oncology, enabling molecularly driven cancer care. Integration with artificial intelligence, single-cell sequencing, spatial transcriptomics, multi-omics, and nanotechnology promises to overcome current limitations, advancing personalized treatment strategies. Standardization of workflows, cost reduction, and improved bioinformatics expertise are critical for its full clinical integration.
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(This article belongs to the Special Issue Next-Generation Diagnostic Strategies: Bridging Health Sciences and Laboratory Medicine)
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Gouty Tophi in Developed Countries: Uncovering Underlying Brain Diseases
by
Koji Hayashi, Mamiko Sato, Yuka Nakaya, Maho Hayashi, Toyoaki Miura, Hidetaka Matsuda and Yasutaka Kobayashi
Diagnostics 2025, 15(19), 2424; https://doi.org/10.3390/diagnostics15192424 - 23 Sep 2025
Abstract
A 56-year-old man, accompanied by city hall staff, visited our neurorehabilitation clinic. Despite hyperuricemia being diagnosed several years ago, he refused treatment. He had no history of hypertension and antihypertensive drug use. He developed painful joint tophi around the age of 51, which
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A 56-year-old man, accompanied by city hall staff, visited our neurorehabilitation clinic. Despite hyperuricemia being diagnosed several years ago, he refused treatment. He had no history of hypertension and antihypertensive drug use. He developed painful joint tophi around the age of 51, which were managed with over-the-counter painkillers. At age 54, a knee tophus was removed, histologically confirming gouty tophi. Subsequently, he lost his chef’s job, and his lifestyle deteriorated. Gouty tophi were observed in the right ear, knuckles, elbows, and ankles, with some ulceration. Blood tests showed anemia and hyperuricemia (10.1 mg/dL: reference 3.6–7.0 mg/dL). Chest–abdominal CT demonstrated calcification of the aorta. Brain MRI revealed an old putaminal hemorrhage and numerous microbleeds. Dementia (Clinical Dementia Rating: 1) was diagnosed based on neuropsychological testing. Public services and social assistance were arranged for him. This case is hypothesis-generating. In settings with adequate healthcare access, the presentation of severe, uncontrolled gouty tophi with poor engagement should prompt a selective, stepwise evaluation—beginning with cognitive screening and proceeding to neurologic assessment if indicated; routine preventive brain imaging is not recommended. The presence of lobar and deep microbleeds should be interpreted within the context of standardized diagnostic criteria and lesion distribution patterns to inform differential diagnosis.
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(This article belongs to the Special Issue Cerebrovascular Lesions: Diagnosis and Management, 2nd Edition)
Open AccessArticle
Clinicopathological Features of Small Pancreatic Neuroendocrine Neoplasms 10 mm or Smaller
by
Tetsuro Hirano, Masahiro Serikawa, Yasutaka Ishii, Shinya Nakamura, Juri Ikemoto, Masaru Furukawa, Yumiko Yamashita, Noriaki Iijima, Yasuhiro Okuda, Risa Nomura, Koji Arihiro, Kenichiro Uemura, Shinya Takahashi, Hideki Ohdan and Shiro Oka
Diagnostics 2025, 15(19), 2423; https://doi.org/10.3390/diagnostics15192423 - 23 Sep 2025
Abstract
Background/Objectives: There is limited evidence on imaging characteristics and pathological grading of small pancreatic neuroendocrine tumors (PNENs). This study aimed to compare imaging features and histopathological diagnoses of PNENs based on tumor size. Methods: Patients with PNEN who underwent pathological diagnosis at Hiroshima
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Background/Objectives: There is limited evidence on imaging characteristics and pathological grading of small pancreatic neuroendocrine tumors (PNENs). This study aimed to compare imaging features and histopathological diagnoses of PNENs based on tumor size. Methods: Patients with PNEN who underwent pathological diagnosis at Hiroshima University Hospital were retrospectively reviewed. Detection rates, imaging findings, and diagnostic accuracy of endoscopic ultrasound-guided fine needle aspiration (EUS-FNA) were analyzed according to tumor size. Results: Among 107 patients with PNEN, 42 had tumors ≤10 mm, and 65 had tumors >10 mm. The detection rate for lesions ≤10 mm was 92.3% according to EUS and 83.3% according to contrast-enhanced CT, showing the superior sensitivity of EUS. Typical imaging features—well-defined margins, homogeneous internal structure, and early enhancement—were significantly more frequent in tumors ≤10 mm (p < 0.001). There were no significant differences in imaging findings between G1 and G2 tumors ≤10 mm. The diagnostic sensitivity of EUS-FNA was 91.2% for tumors ≤10 mm and 86.3% for tumors >10 mm, with no significant difference. However, the concordance rate between EUS-FNA and surgical histology for tumor grading was significantly higher in the ≤10 mm group (87.5% vs. 56.3%, p = 0.012). Discussion: In small PNENs (≤10 mm), imaging features are often typical but do not reliably determine tumor grade. In our cohort, EUS-FNA showed high diagnostic accuracy and provided essential pathological information to guide management, including the choice between surveillance and surgery.
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(This article belongs to the Section Pathology and Molecular Diagnostics)
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Open AccessReview
The Role of OCTA and Microperimetry in Revealing Retinal and Choroidal Perfusion and Functional Changes Following Silicone Oil Tamponade in Rhegmatogenous Retinal Detachment: A Narrative Review
by
Dan-Grigore Dunca and Simona-Delia Nicoară
Diagnostics 2025, 15(19), 2422; https://doi.org/10.3390/diagnostics15192422 - 23 Sep 2025
Abstract
Background: Rhegmatogenous retinal detachment (RRD), the most common type of retinal detachment, requires prompt surgery to reattach the retina and avoid permanent vision loss. While surgical treatment is adapted to each individual case, one frequent option is pars plana vitrectomy (PPV) with
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Background: Rhegmatogenous retinal detachment (RRD), the most common type of retinal detachment, requires prompt surgery to reattach the retina and avoid permanent vision loss. While surgical treatment is adapted to each individual case, one frequent option is pars plana vitrectomy (PPV) with silicone oil (SO) tamponade. Despite achieving anatomical success (complete retinal attachment), concerns persist regarding potential microvascular alterations in the retina and choroid, with a negative impact on visual function. Optical coherence tomography angiography (OCTA) allows detailed, in-depth imaging of retinal and choroidal circulation, whereas microperimetry makes it possible to accurately assess macular function. This review aims to strengthen the existing evidence on vascular and functional alterations at the macular level after SO tamponade in cases of RRD. Methods: A narrative review was conducted using a structured approach, utilizing a PubMed search from January 2000 up to April 2025. Twenty-three studies on OCTA and microperimetry after SO tamponade for RRD were included. Data on vessel densities, choroidal vascular index (CVI), foveal avascular zone (FAZ) size, and retinal sensitivity were extracted and qualitatively analyzed. Results: Studies consistently reported a reduction in the vessel density within the superficial capillary plexus (SCP) under SO tamponade, with partial but incomplete reperfusion post-removal. Choroidal perfusion and CVI were also decreased, exhibiting a negative correlation with the duration of SO tamponade. Microperimetry demonstrated significant reductions in retinal sensitivity (~5–10 dB) during SO tamponade, which modestly improved (~1–2 dB) following removal but generally remaining below normal levels. Conclusions: SO tamponade causes substantial retinal and choroidal vascular impairment and measurable macular dysfunction, even after anatomical reattachment of the retina. It is recommended to perform early SO removal (~3–4 months) and implement routine monitoring by OCTA and microperimetry with the aim of optimizing patient outcomes. Future research should focus on investigating protective strategies and enhancing visual rehabilitation following RRD repair.
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(This article belongs to the Special Issue Diagnosis, Treatment and Management of Eye Diseases, Third Edition)
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Open AccessReview
Clinical Applications of Optical Coherence Tomography and Optical Coherence Tomography Angiography in Uveal Melanoma: A Narrative Review
by
Mario Troisi, Livio Vitiello, Filippo Lixi, Mihaela Madalina Timofte Zorila, Giulia Abbinante, Alfonso Pellegrino, Assem Namazbayeva, Ginevra Giovanna Adamo, Giulia Coco, Alberto Cuccu and Giuseppe Giannaccare
Diagnostics 2025, 15(19), 2421; https://doi.org/10.3390/diagnostics15192421 - 23 Sep 2025
Abstract
Uveal melanoma is the most common primary intraocular malignancy in adults, most frequently arising from the choroid, followed by the ciliary body and iris. Its diagnosis and management require precise characterization of tumor morphology, localization, and associated complications to optimize visual and systemic
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Uveal melanoma is the most common primary intraocular malignancy in adults, most frequently arising from the choroid, followed by the ciliary body and iris. Its diagnosis and management require precise characterization of tumor morphology, localization, and associated complications to optimize visual and systemic outcomes. Recent advances in optical coherence tomography (OCT), anterior segment OCT (AS-OCT), and OCT angiography (OCTA) have expanded the ophthalmologist’s ability to non-invasively visualize structural and vascular changes associated with this disease. In fact, enhanced depth imaging (EDI) and swept-source (SS) OCT can provide detailed views of deep ocular structures, enabling early detection of hallmark features such as subretinal fluid, retinal pigment epithelium disruption, and dome- or mushroom-shaped choroidal elevations; AS-OCT improves evaluation of lesions of the anterior segment, revealing iris architecture distortion and angle involvement; OCTA facilitates the visualization of abnormal tumor vasculature and detection of radiation-induced microvascular changes, including capillary dropout and foveal avascular zone enlargement. Moreover, these imaging modalities have demonstrated utility in differentiating uveal melanoma from pseudomelanomas, such as choroidal nevi, hemangiomas, and metastases. The present review aims at objectively assessing the use of OCT and OCTA in the diagnosis, treatment, and follow up of ocular melanoma, emphasizing their crucial role in identifying pathologic biomarkers of this potentially fatal ocular disease.
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(This article belongs to the Special Issue Advances in Eye Imaging)
Open AccessInteresting Images
Uncommon Cause of Pulmonary Hypertension: Imaging Diagnosis of Cardiac Myxoma Embolism
by
Alexandra Braillon, Paul Patural, David Laville, Frédéric Perros, Ségolène Turquier, Vincent Cottin, Romain L’Huillier and Salim Si-Mohamed
Diagnostics 2025, 15(19), 2420; https://doi.org/10.3390/diagnostics15192420 - 23 Sep 2025
Abstract
We report an original case of pulmonary hypertension with artery aneurysms due to the cell proliferation of a right atrial myxoma with multi-modality imaging. Only three cases have been reported in the literature. The description of endoluminal cells proliferation in pulmonary arteries is
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We report an original case of pulmonary hypertension with artery aneurysms due to the cell proliferation of a right atrial myxoma with multi-modality imaging. Only three cases have been reported in the literature. The description of endoluminal cells proliferation in pulmonary arteries is rare on imaging, and this observation could be very useful in demonstrating not only the usefulness of multi-modality imaging, but also the combined performance of the dual-energy scanner.
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(This article belongs to the Special Issue Diagnosis of Cardio-Thoracic Diseases)
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Open AccessArticle
Evaluation of Operated Dextro-Transposition of Great Arteries Patients in Follow-Up: Comparison of Transthoracic Echocardiography and Cardiac CT Angiography
by
Ali Nazım Güzelbağ, İsa Özyılmaz, Demet Kangel, Osman Nuri Bayrak, Hatice Dilek Özcanoğlu, Behzat Tüzün, Ali Can Hatemi, Erkut Öztürk and Serap Baş
Diagnostics 2025, 15(19), 2419; https://doi.org/10.3390/diagnostics15192419 - 23 Sep 2025
Abstract
Background: Arterial switch operation (ASO) is the standard surgical treatment for dextro-transposition of great arteries (d-TGA). Long-term complications affecting pulmonary arteries, coronary arteries, and aortic root necessitate detailed surveillance, but the optimal imaging strategy remains undefined. Methods: We retrospectively analyzed 47 patients with
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Background: Arterial switch operation (ASO) is the standard surgical treatment for dextro-transposition of great arteries (d-TGA). Long-term complications affecting pulmonary arteries, coronary arteries, and aortic root necessitate detailed surveillance, but the optimal imaging strategy remains undefined. Methods: We retrospectively analyzed 47 patients with d-TGA who underwent ASO between January 2023 and June 2025 with at least six months postoperative follow-up. All patients underwent both transthoracic echocardiography (TTE) and ECG-gated cardiac CT angiography (CTA). Anatomical measurements, functional parameters, and diagnostic completeness were compared between modalities. Results: Median age at follow-up was 37.2 months. CT detected pulmonary artery stenosis in 31 patients (65.9%) and aortic root dilatation in 31 patients (65.9%). TTE provided incomplete pulmonary artery assessment in 11 patients (23.4%) and incomplete coronary evaluation in 13 patients (27.6%), while CT successfully evaluated all patients (100%). Strong correlation was found between left pulmonary artery bending angle and aortic root dimensions (r = 0.65, p = 0.016), suggesting mechanical interdependence of post-surgical anatomical changes. Median radiation exposure was 2.684 mSv (IQR: 1.5–4.6). During follow-up, 10 patients (21.3%) required cardiovascular interventions, with CT providing complete pre-intervention assessment in all cases. Conclusions: TTE alone is insufficient for complete anatomical assessment following ASO. An integrated imaging approach utilizing TTE for functional assessment and CT for anatomical evaluation optimizes post-ASO surveillance.
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(This article belongs to the Special Issue Clinical Diagnosis and Management in Cardiology)
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Open AccessArticle
Clinical and Ultrasound Characteristics of a Difficult-to-Treat Psoriatic Arthritis Population
by
Georgina Novell, Ana Belén Azuaga, Lucía Alascio, Oriana Omaña, Claudia Arango, Joshua Peñafiel-Sam, Andrés Ponce, Juan Camilo Sarmiento-Monroy, Beatriz Frade-Sosa, José A. Gómez-Puerta, Juan D. Cañete and Julio Ramírez
Diagnostics 2025, 15(19), 2418; https://doi.org/10.3390/diagnostics15192418 - 23 Sep 2025
Abstract
Background: Achieving low disease activity or remission in psoriatic arthritis (PsA) remains difficult. The GRAPPA group recently defined difficult-to-treat (D2T) PsA but did not include a time-based criterion. Objectives: This study aimed to evaluate the prevalence and features of D2T PsA using several
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Background: Achieving low disease activity or remission in psoriatic arthritis (PsA) remains difficult. The GRAPPA group recently defined difficult-to-treat (D2T) PsA but did not include a time-based criterion. Objectives: This study aimed to evaluate the prevalence and features of D2T PsA using several operational definitions. Methods: A cross-sectional study at a tertiary center enrolled PsA patients with active disease confirmed by clinical exam and ultrasound. D2T PsA was defined by: (1) failure of ≥1 csDMARD plus ≥2 b/tsDMARDs with different mechanisms of action (GRAPPA definition); (2) ≥2 b/tsDMARDs with different mechanisms of action within 12 months (time-based definition); or (3) failure of >3 b/tsDMARDs with different mechanisms of action (very refractory). Clinical, demographic, radiographic, and ultrasound data were analyzed, and multivariable analyses identified independent associations. Results: Seventy-two patients (54.2% female, median age 56, disease duration 84 months) all had active disease (median DAPSA 17); 68% had comorbidities. Enthesitis, dactylitis, and nail disease were seen in 20.8%, 45.8%, and 41.7%. HLA-B27 positivity was 13.9%. Radiographic erosions and ultrasound paratenonitis were present in 37.5% and 33.3%. GRAPPA D2T criteria were met by 23.6%, linked to longer disease duration, higher activity, HLA-B27, comorbidities, and combined therapy. Time-based D2T (12.5%) showed higher DAPSA and nail involvement, with ultrasound paratenonitis and combined therapy independently associated. Very refractory patients (11.1%) only correlated with combined therapy. Conclusions: Up to one-fourth of PsA patients remain active despite multiple treatments. D2T PsA is associated with disease duration, comorbidities, activity, HLA-B27, combined therapies. Remarkably, patients who fulfilled the <12-month D2T definition were more likely to present with nail involvement and ultrasound-detected paratenonitis.
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(This article belongs to the Section Medical Imaging and Theranostics)
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