Diagnostics

10 pages, 626 KB

Open AccessArticle

Discordance for Defects in Monochorionic Twins: Prevalence and Impact on Perinatal Outcomes

by Ewelina Litwinska, Izabela Walasik, Monika Szpotanska-Sikorska, Paweł Stanirowski, Tomasz Góra, Tomasz Szajner, Anna Janowicz-Grelewska, Aleksandra Księżopolska, Artur Ludwin and Magdalena Litwinska

Diagnostics 2026, 16(3), 385; https://doi.org/10.3390/diagnostics16030385 (registering DOI) - 25 Jan 2026

Abstract

Background: Monozygotic twin pregnancies are at increased risk of congenital abnormalities compared to singletons. In 20% of cases, both fetuses are affected (concordance), while in 80% of cases, only one fetus is affected (discordance). This study examines the prevalence of discordance for [...] Read more.

Background: Monozygotic twin pregnancies are at increased risk of congenital abnormalities compared to singletons. In 20% of cases, both fetuses are affected (concordance), while in 80% of cases, only one fetus is affected (discordance). This study examines the prevalence of discordance for structural defects in monochorionic (MC) twins, with normal aCGH comparative genomic hybridization (aCGH), reporting the types of detected abnormalities and their possible impact on perinatal outcomes, including the rate of single and double fetal loss before 24 weeks’ gestation and the rate of preterm birth (PB) before 32 weeks’ gestation. Methods: This was a retrospective study of discordant structural fetal anomalies in MC twin pregnancies detected at first-trimester scanning in three fetal medicine centers in Poland. Results: In the study population of 381 monochorionic twin pregnancies examined at 11–13 weeks’ gestation, 21 (5.5%) pregnancies showed discordant structural defects with normal aCGH result. The most common were cardiac defects (n = 8), followed by central nervous system (CNS) (n = 6) defects and facial anomalies (n = 3). Single or double fetal loss before 28 weeks occurred in four (19%) and two (9%) cases, respectively, and was associated with intertwin crown–rump length (CRL) discordance greater than 20% (p = 0.046). PB before 32 weeks’ gestation occurred in nine cases (47%) and was strongly associated with polyhydramnios (p = 0.001), which occurred mainly in CNS and facial defects. Conclusions: The prevalence of discordant structural defects with normal aCGH results among monochorionic twins is approximately 5%. In pregnancies with discordant defects, cardiac defects are the most common. Intertwin discordance greater than than 20% is associated with an increased risk of fetal demise. Full article

(This article belongs to the Special Issue Advancements in Maternal–Fetal Medicine: 2nd Edition)

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14 pages, 487 KB

Open AccessArticle

The Role of AI-Generated Clinical Image Descriptions in Enhancing Teledermatology Diagnosis: A Cross-Sectional Exploratory Study

by Jonathan Shapiro, Binyamin Greenfield, Itay Cohen, Roni P. Dodiuk-Gad, Yuliya Valdman-Grinshpoun, Tamar Freud, Anna Lyakhovitsky, Ziad Khamaysi and Emily Avitan-Hersh

Diagnostics 2026, 16(3), 384; https://doi.org/10.3390/diagnostics16030384 (registering DOI) - 25 Jan 2026

Abstract

Background/Objectives: AI models such as ChatGPT-4 have shown strong performance in dermatology; however, the diagnostic value of AI-generated clinical image descriptions remains underexplored. This study assesses whether ChatGPT-4’s image descriptions can support accurate dermatologic diagnosis and evaluates their potential integration into the Electronic [...] Read more.

Background/Objectives: AI models such as ChatGPT-4 have shown strong performance in dermatology; however, the diagnostic value of AI-generated clinical image descriptions remains underexplored. This study assesses whether ChatGPT-4’s image descriptions can support accurate dermatologic diagnosis and evaluates their potential integration into the Electronic Medical Record (EMR) system. Materials & Methods: In this Exploratory cross-sectional study, we analyzed images and descriptions from teledermatology consultations conducted between December 2023 and February 2024. ChatGPT-4 generated clinical descriptions for each image, which two senior dermatologists then used to formulate differential diagnoses. Diagnoses based on ChatGPT-4’s output were compared to those derived from the original clinical notes written by teledermatologists. Concordance was categorized as Top1 (exact match), Top3 (correct within top three), Partial, or No match. Results: The study included 154 image descriptions from 67 male and 87 female patients, aged 0 to 93 years. ChatGPT-4 descriptions averaged 74.3 ± 33.1 words, compared to 7.9 ± 3.0 words for teledermatologists. At least one of the two dermatologists achieved a Top 3 concordance rate of 82.5% using ChatGPT-4’s descriptions and 85.3% with teledermatologist descriptions. Conclusions: Preliminary findings highlight the potential integration of ChatGPT-4-generated descriptions into EMRs to enhance documentation. Although AI descriptions were longer, they did not enhance diagnostic accuracy, and expert validation remained essential. Full article

(This article belongs to the Special Issue Artificial Intelligence in Diagnostics: From Algorithms to Clinical Impact)

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11 pages, 1701 KB

Open AccessArticle

Morphological Analysis and Short-Term Evolution in Pulmonary Infarction Ultrasound Imaging: A Pilot Study

by Chiara Cappiello, Elisabetta Casto, Alessandro Celi, Camilla Tinelli, Francesco Pistelli, Laura Carrozzi and Roberta Pancani

Diagnostics 2026, 16(3), 383; https://doi.org/10.3390/diagnostics16030383 (registering DOI) - 24 Jan 2026

Abstract

Background: Pulmonary infarction (PI) is the result of the occlusion of distal pulmonary arteries resulting in damage to downstream lung areas that become ischemic, hemorrhagic, or necrotic, and it is often a complication of an underlying condition such as pulmonary embolism (PE). Since [...] Read more.

Background: Pulmonary infarction (PI) is the result of the occlusion of distal pulmonary arteries resulting in damage to downstream lung areas that become ischemic, hemorrhagic, or necrotic, and it is often a complication of an underlying condition such as pulmonary embolism (PE). Since in most of cases it is located peripherally, lung ultrasound (LUS) can be a good evaluation tool. The typical radiological features of PI are well-known; however, there are limited data on its sonographic characteristics and its evolution. Methods: The aim of this study is to evaluate, using LUS, a convenience sample of patients with acute PE with computed tomography (CT) consolidation findings consistent with PI. Patients’ clinical characteristics were collected and LUS findings at baseline and their short-term progression was assessed. LUS was performed within 72 h of PE diagnosis (T0) and repeated after one (T1) and four weeks (T2). Each procedure started with a focused examination of the areas of lesions based on CT findings, followed by an exploration of the other posterior and lateral lung fields. The convex probe was used for initial evaluation integrating LUS evaluation with the linear one was employed for smaller and more superficial lesions and when appropriate. Color Doppler mode was added to study vascularization. Results: From June to October 2023, 14 consecutive patients were enrolled at the Respiratory Unit of the University Hospital of Pisa. The main population characteristics included the absence of respiratory failure and prognostic high-risk PE (100%), the absence of significant comorbidities (79%), and the presence of typical symptoms, such as chest pain (57%) and dyspnea (50%). The average number of consolidations per patient was 1.4 ± 0.6. Follow-up LUS showed the disappearance of some consolidations and some morphological changes in the remaining lesions: the presence of hypoechoic consolidation with a central hyperechoic area (“bubbly consolidation”) was more typical at T1 while the presence of a small pleural effusion often persisted both at T1 and T2. A decrease in wedge/triangular-shaped consolidations was observed (82% at T0, 67% at T1, 24% at T2), as was an increase in elongated shapes, representing a residual pleural thickening over time (9% at T0, 13% at T1, 44% at T2). A reduction in size was also observed by comparing the mean diameter, long axis, and short axis measurements of each consolidation at the three different studied time points: the average of the short axes and the median of the mean diameters showed a statistically significant reduction after four weeks. Additionally, a correlation between lesion size and pleuritic pain was described, although it did not achieve statistical significance. Conclusions: Patients’ clinical characteristics and ultrasound features are consistent with previous studies studying PI at PE diagnosis. Most consolidations detected by LUS change over time regarding size and form, but a minority of them do not differ. LUS is a safe and non-invasive exam that could help to improve patients’ clinical approach in emergency rooms as well as medical and pulmonology settings, clinically contextualized for cases of chest pain and dyspnea. Future studies could expand the morphological study of PI. Full article

(This article belongs to the Special Issue 21st Century Point-of-Care, Near-Patient and Critical Care Testing—2nd Edition)

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5 pages, 2304 KB

Open AccessInteresting Images

Pulmonary Veno-Occlusive Disease in Rheumatoid Arthritis: A Rare Pathological Entity Independent of Interstitial Lung Disease

by Rina Izumi, Koji Hayashi, Ei Kawahara, Yuka Nakaya, Asuka Suzuki, Mamiko Sato, Naoko Takaku, Toyoaki Miura, Hiromi Hayashi, Kouji Hayashi and Yasutaka Kobayashi

Diagnostics 2026, 16(3), 382; https://doi.org/10.3390/diagnostics16030382 (registering DOI) - 24 Jan 2026

Abstract

We present the case of an 83-year-old woman with a long-standing history of rheumatoid arthritis (RA) who was found collapsed at home. The patient presented with cardiopulmonary arrest and could not be resuscitated. A postmortem examination was performed to determine the cause of [...] Read more.

We present the case of an 83-year-old woman with a long-standing history of rheumatoid arthritis (RA) who was found collapsed at home. The patient presented with cardiopulmonary arrest and could not be resuscitated. A postmortem examination was performed to determine the cause of death. Postmortem computed tomography (CT) ruled out intracranial hemorrhage but revealed diffuse bilateral pulmonary consolidations and signs of bronchial obstruction. The autopsy revealed severe pulmonary edema and marked right ventricular hypertrophy. Microscopic examination of the lungs demonstrated characteristic features of pulmonary veno-occlusive disease (PVOD), including widespread fibrous intimal thickening and occlusion of small pulmonary veins and venules. Notably, there was no evidence of RA-associated interstitial lung disease (ILD). The direct cause of death was identified as pulmonary edema secondary to PVOD. This case highlights that PVOD can occur in patients with RA as a distinct pathological entity, independent of ILD. This finding is significant as it contrasts with previous reports where PVOD was associated with ILD. Therefore, clinicians should consider PVOD in the differential diagnosis of RA patients who present with unexplained pulmonary hypertension or progressive dyspnea, even in the absence of interstitial lung disease. Full article

(This article belongs to the Special Issue Current Perspectives and Gaps in the Diagnosis and Management of Rheumatic Diseases)

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16 pages, 25106 KB

Open AccessReview

Clinical Application of Steroid Profiles and Their Interpretation in Adrenal Disorders

by Indra Ramasamy

Diagnostics 2026, 16(3), 381; https://doi.org/10.3390/diagnostics16030381 (registering DOI) - 24 Jan 2026

Abstract

Serum and urinary steroid profiles are altered in hormone-producing adrenal adenomas, Cushing’s or Conn’s syndrome, or adrenocortical carcinoma. Definitive diagnosis of inherited congenital adrenal hyperplasia is usually accomplished by measuring the blood levels of adrenal hormones and precursor steroids. Neonatal diagnosis of congenital [...] Read more.

Serum and urinary steroid profiles are altered in hormone-producing adrenal adenomas, Cushing’s or Conn’s syndrome, or adrenocortical carcinoma. Definitive diagnosis of inherited congenital adrenal hyperplasia is usually accomplished by measuring the blood levels of adrenal hormones and precursor steroids. Neonatal diagnosis of congenital adrenal hyperplasia is complicated. Alternative methods such as gas chromatography/mass spectrometry or liquid chromatography/mass spectrometry have been used for the diagnosis of congenital adrenal hyperplasia. This review covers the current application of gas chromatography/mass spectrometry or liquid chromatography/mass spectrometry in the interpretation of steroid profiles in different clinical and diagnostic settings. In the future, mass spectrometry may provide more information to assist in the choice of routine DNA analysis. Full article

(This article belongs to the Section Clinical Laboratory Medicine)

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10 pages, 711 KB

Open AccessArticle

Differential Uptake and Release of Female Genital Secretions Components and HPV DNA by Veil, Swab, and Vaginal Tampon

by Ralph-Sydney Mboumba Bouassa, Jonathan Muwonga Tukisadila and Laurent Belec

Diagnostics 2026, 16(3), 380; https://doi.org/10.3390/diagnostics16030380 - 23 Jan 2026

Abstract

Background/Objectives: Self-collection devices are more widely used than ever for detecting sexually transmitted infections and cervical cancer. Despite this, we still lack a clear understanding of how well these tools actually collect and release the necessary molecular samples. This study compared the [...] Read more.

Background/Objectives: Self-collection devices are more widely used than ever for detecting sexually transmitted infections and cervical cancer. Despite this, we still lack a clear understanding of how well these tools actually collect and release the necessary molecular samples. This study compared the in vitro uptake and release performance of commonly used self-sampling devices for total proteins, nucleic acids, and episomal human papillomavirus type 16 (HPV-16) DNA. Methods: An artificial cervicovaginal fluid composed of phosphate-buffered saline supplemented with serum and nucleic acid extracts was serially diluted 2-fold. Each dilution was applied for 5 min to the external surfaces of a vaginal veil (Vaginal Veil Collector V-Veil UP2^TM device), a flocked swab (FLOQSwabs^®), and a commercial vaginal tampon. Non-woven surgical tissue and plastic film served as controls. Total proteins and nucleic acids were quantified by spectrophotometry, and HPV-16 DNA by real-time quantitative PCR. Results: Recovery rates for proteins and nucleic acids were highest for the vaginal veil (81% and 91%), followed by the swab (66% and 70%) and non-woven tissue (44% and 47%). In contrast, the tampon and plastic film performed poorly, releasing less than 30% of proteins and negligible amounts of nucleic acids. Episomal HPV-16 DNA release was highest for the veil (89%), compared with the swab (57%), non-woven tissue (37%), tampon (4%), and plastic film (2%). Conclusions: The vaginal veil demonstrated superior uptake and release of proteins, nucleic acids, and HPV-16 DNA at physiological concentrations. Its non-absorbent structure allows high saturation with efficient release of genital components, including microbial genomes, whereas vaginal tampons retained these components, limiting analytical recovery. Full article

(This article belongs to the Section Clinical Laboratory Medicine)

32 pages, 8725 KB

Open AccessArticle

The Landscape of Ferroptosis-Related Gene Signatures as Molecular Stratification in Triple-Negative Breast Cancer

by Marko Buta, Nikola Jeftic, Irina Besu, Jovan Raketic, Ivan Markovic, Ana Djuric, Nina Petrovic and Tatjana Srdic-Rajic

Diagnostics 2026, 16(3), 379; https://doi.org/10.3390/diagnostics16030379 - 23 Jan 2026

Abstract

Background: Triple-negative breast cancer (TNBC) represents the most aggressive breast cancer subtype, characterized by high genomic instability, metabolic stress, and limited therapeutic options. Ferroptosis, an iron-dependent form of regulated cell death, has emerged as a promising vulnerability in TNBC, yet its subtype-specific regulatory [...] Read more.

Background: Triple-negative breast cancer (TNBC) represents the most aggressive breast cancer subtype, characterized by high genomic instability, metabolic stress, and limited therapeutic options. Ferroptosis, an iron-dependent form of regulated cell death, has emerged as a promising vulnerability in TNBC, yet its subtype-specific regulatory landscape remains insufficiently defined. Methods: Using transcriptomic (METABRIC, TCGA, GEO) and proteomic (CPTAC) datasets, ferroptosis-related genes were profiled across PAM50 breast cancer subtypes. Differential expression, univariate Cox regression, LASSO modeling, survival analyses, GSEA, and dimensionality reduction (PCA, t-SNE) were applied. A Ferroptosis Index (FI) was calculated using β-coefficients from the Cox/LASSO regression model. Single-cell RNA-seq data was used to map ferroptosis-associated signature across tumor and microenvironmental compartments. Results: Basal-like tumors exhibited the strongest ferroptosis-associated transcriptional shift, characterized by upregulation of ACSL4 and EZH2 and downregulation of AR, GPX4, and CIRBP. Sixteen ferroptosis-related genes were associated with overall survival, forming a ferroptosis-associated signature. The FI was significantly higher in Basal-like tumors, indicating elevated ferroptosis-associated transcriptional state. GSEA revealed enrichment of cell cycle, mitotic, cytoskeletal, and metabolic stress pathways. Single-cell analysis demonstrated expression of ferroptosis markers across cancer epithelial, stromal, and myeloid populations. Conclusions: Basal-like tumors harbor a distinct ferroptosis-associated transcriptional state linked to tumor aggressiveness and poor prognosis. These findings provide a biologically grounded framework for ferroptosis-related stratification and support future functional and translational studies targeting ferroptosis vulnerabilities in aggressive breast cancer. Full article

(This article belongs to the Special Issue Diagnosis, Treatment, and Prognosis of Breast Cancer)

15 pages, 3380 KB

Open AccessSystematic Review

Re-Evaluating the Progesterone Challenge Test as a Physiologic Marker of Endometrial Cancer Risk: A Systematic Review and Meta-Analysis

by Rachel J. Woima, Derek S. Chiu, Elise Abi Khalil, Sabine El-Halabi, Andrea Neilson, Laurence Bernard, Jessica N. McAlpine and Aline Talhouk

Diagnostics 2026, 16(3), 378; https://doi.org/10.3390/diagnostics16030378 - 23 Jan 2026

Abstract

Background/Objectives: With the rising incidence of obesity-related endometrial cancer, there is renewed interest in physiologic, low-cost approaches to identify women with hormonally active endometrium who may benefit from early preventive interventions. The progesterone challenge test (PCT), an established clinical tool for evaluating [...] Read more.

Background/Objectives: With the rising incidence of obesity-related endometrial cancer, there is renewed interest in physiologic, low-cost approaches to identify women with hormonally active endometrium who may benefit from early preventive interventions. The progesterone challenge test (PCT), an established clinical tool for evaluating amenorrhea, has been previously proposed as a method to detect endometrial pathology. This study systematically evaluated the diagnostic accuracy of the PCT for detecting endometrial hyperplasia, intraepithelial neoplasia, and carcinoma in asymptomatic postmenopausal women to determine its potential role as a physiologic marker of endometrial cancer risk. Methods: A systematic review and meta-analysis were conducted following PRISMA-DTA guidelines. MEDLINE, EMBASE, EBM Reviews, and CINAHL were searched from inception to 20 January 2025, along with ClinicalTrials.gov and grey literature. Eligible studies prospectively evaluated the PCT with endometrial biopsy as the reference standard. Data extraction and risk-of-bias assessment were performed in duplicate. Risk of bias was assessed using QUADAS-2. Pooled sensitivity, specificity, and predictive values were estimated using hierarchical summary receiver operating characteristic models. Results: Nineteen studies (n = 3902) met the inclusion criteria. The pooled sensitivity and specificity of the PCT for detecting endometrial pathology were 95% (95% CI 86–100%) and 87% (76–96%), respectively. The positive predictive value was 32% (95% CI, 16–50%) and the negative predictive value was 100% (100–100%). When endometrial proliferation was included in the target condition, sensitivity decreased to 82%, but positive predictive value increased to 70%. Conclusions: The PCT shows high diagnostic accuracy for identifying estrogen-driven endometrial pathology in asymptomatic postmenopausal women. Re-evaluating this simple, physiologic test as a functional risk-stratification tool could inform precision prevention strategies for endometrial cancer. Full article

(This article belongs to the Special Issue Advances in Diagnosis and Management of Endometrial Diseases)

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23 pages, 602 KB

Open AccessArticle

An Intelligent Hybrid Ensemble Model for Early Detection of Breast Cancer in Multidisciplinary Healthcare Systems

by Hasnain Iftikhar, Atef F. Hashem, Moiz Qureshi, Paulo Canas Rodrigues, S. O. Ali, Ronny Ivan Gonzales Medina and Javier Linkolk López-Gonzales

Diagnostics 2026, 16(3), 377; https://doi.org/10.3390/diagnostics16030377 - 23 Jan 2026

Abstract

Background/Objectives: In the modern healthcare landscape, breast cancer remains one of the most prevalent malignancies and a leading cause of mortality among women worldwide. Early and accurate prediction of breast cancer plays a pivotal role in effective diagnosis, treatment planning, and improving survival [...] Read more.

Background/Objectives: In the modern healthcare landscape, breast cancer remains one of the most prevalent malignancies and a leading cause of mortality among women worldwide. Early and accurate prediction of breast cancer plays a pivotal role in effective diagnosis, treatment planning, and improving survival outcomes. However, due to the complexity and heterogeneity of medical data, achieving high predictive accuracy remains a significant challenge. This study proposes an intelligent hybrid system that integrates traditional machine learning (ML), deep learning (DL), and ensemble learning approaches for enhanced breast cancer prediction using the Wisconsin Breast Cancer Dataset. Methods: The proposed system employs a multistage framework comprising three main phases: (1) data preprocessing and balancing, which involves normalization using the min–max technique and application of the Synthetic Minority Over-sampling Technique (SMOTE) to mitigate class imbalance; (2) model development, where multiple ML algorithms, DL architectures, and a novel ensemble model are applied to the preprocessed data; and (3) model evaluation and validation, performed under three distinct training–testing scenarios to ensure robustness and generalizability. Model performance was assessed using six statistical evaluation metrics—accuracy, precision, recall, F1-score, specificity, and AUC—alongside graphical analyses and rigorous statistical tests to evaluate predictive consistency. Results: The findings demonstrate that the proposed ensemble model significantly outperforms individual machine learning and deep learning models in terms of predictive accuracy, stability, and reliability. A comparative analysis also reveals that the ensemble system surpasses several state-of-the-art methods reported in the literature. Conclusions: The proposed intelligent hybrid system offers a promising, multidisciplinary approach for improving diagnostic decision support in breast cancer prediction. By integrating advanced data preprocessing, machine learning, and deep learning paradigms within a unified ensemble framework, this study contributes to the broader goals of precision oncology and AI-driven healthcare, aligning with global efforts to enhance early cancer detection and personalized medical care. Full article

(This article belongs to the Special Issue AI and Digital Health for Disease Diagnosis and Monitoring, 2nd Edition)

17 pages, 7884 KB

Open AccessArticle

Limitations in Chest X-Ray Interpretation by Vision-Capable Large Language Models, Gemini 1.0, Gemini 1.5 Pro, GPT-4 Turbo, and GPT-4o

by Chih-Hsiung Chen, Chang-Wei Chen, Kuang-Yu Hsieh, Kuo-En Huang and Hsien-Yung Lai

Diagnostics 2026, 16(3), 376; https://doi.org/10.3390/diagnostics16030376 - 23 Jan 2026

Abstract

Background/Objectives: Interpretation of chest X-rays (CXRs) requires accurate identification of lesion presence, diagnosis, location, size, and number to be considered complete. However, the effectiveness of large language models with vision capabilities (LLMs) in performing these tasks remains uncertain. This study aimed to [...] Read more.

Background/Objectives: Interpretation of chest X-rays (CXRs) requires accurate identification of lesion presence, diagnosis, location, size, and number to be considered complete. However, the effectiveness of large language models with vision capabilities (LLMs) in performing these tasks remains uncertain. This study aimed to evaluate the image-only interpretation performance of LLMs in the absence of clinical information. Methods: A total of 247 CXRs covering 13 diagnostic categories, including pulmonary edema, cardiomegaly, lobar pneumonia, and other conditions, were evaluated using Gemini 1.0, Gemini 1.5 Pro, GPT-4 Turbo, and GPT-4o. The text outputs generated by the LLMs were evaluated at two levels: (1) primary diagnosis accuracy across the 13 predefined diagnostic categories, and (2) identification of key imaging features described in the generated text. Primary diagnosis accuracy was assessed based on whether the model correctly identified the target diagnostic category and was classified as fully correct, partially correct, or incorrect according to predefined clinical criteria. Non-diagnostic imaging features, such as posteroanterior and anteroposterior (PA/AP) views, side markers, foreign bodies, and devices, were recorded and analyzed separately rather than being incorporated into the primary diagnostic scoring. Results: When fully and partially correct responses were treated as successful detections, vLLMs showed higher sensitivity for large, bilateral, multiple lesions and prominent devices, including acute pulmonary edema, lobar pneumonia, multiple malignancies, massive pleural effusions, and pacemakers, all of which demonstrated statistically significant differences across categories in chi-square analyses. Feature descriptions varied among models, especially in PA/AP views and side markers, though central lines were partially recognized. Across the entire dataset, Gemini 1.5 Pro achieved the highest overall detection rate, followed by Gemini 1.0, GPT-4o, and GPT-4 Turbo. Conclusions: Although LLMs were able to identify certain diagnoses and key imaging features, their limitations in detecting small lesions, recognizing laterality, reasoning through differential diagnoses, and using domain-specific expressions indicate that CXR interpretation without textual cues still requires further improvement. Full article

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

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12 pages, 749 KB

Open AccessArticle

Lower Selenoprotein P Is Independently Associated with Peripheral Arterial Disease in Peritoneal Dialysis

by I-Min Su, Chung-Jen Lee, Chiu-Huang Kuo, Chih-Hsien Wang and Bang-Gee Hsu

Diagnostics 2026, 16(3), 375; https://doi.org/10.3390/diagnostics16030375 - 23 Jan 2026

Abstract

Background/Objectives: Peripheral arterial disease (PAD) is a common yet often unrecognized complication in patients receiving peritoneal dialysis (PD). Considering that ankle–brachial index (ABI) can be difficult to interpret in this population, additional vascular biomarkers are needed. Selenoprotein P (SePP) is a major [...] Read more.

Background/Objectives: Peripheral arterial disease (PAD) is a common yet often unrecognized complication in patients receiving peritoneal dialysis (PD). Considering that ankle–brachial index (ABI) can be difficult to interpret in this population, additional vascular biomarkers are needed. Selenoprotein P (SePP) is a major selenium transport protein with antioxidant and metabolic regulatory functions and may reflect vascular stress relevant to PAD. We investigated the association of circulating SePP levels with ABI-defined PAD in patients on PD. Methods: In this cross-sectional analysis of 98 patients on PD, ABI was assessed using an automated oscillometric device, and ABI < 0.9 was defined as ABI-defined PAD. Serum SePP levels were measured using enzyme-linked immunosorbent assay. Results: ABI-defined PAD was identified in 20 patients (20.4%). Compared with patients with normal ABI, those with ABI-defined PAD were older (p = 0.014) and had significantly higher prevalence of diabetes mellitus (p = 0.033), longer PD vintage (p = 0.036), higher fasting glucose (p = 0.005) and C-reactive protein (p = 0.003) levels, and lower SePP concentrations (p < 0.001). Low SePP level remained independently associated with ABI-defined PAD after multivariate adjustment (odds ratio 0.930, 95% confidence interval 0.771–0.997; p = 0.032) and consistently across reinforced bootstrap resampling. SePP correlated positively with ABI on the left (p = 0.001) and right (p = 0.002) sides. Conclusions: Among patients undergoing PD, a low serum SePP level was independently associated with ABI-defined PAD and positively associated with ABI, suggesting that SePP may serve as an associative biomarker reflecting vascular vulnerability rather than a diagnostic indicator in this population. Full article

(This article belongs to the Special Issue Diagnosis of Peripheral Vascular Diseases)

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13 pages, 1034 KB

Open AccessArticle

Association Between Intraocular Pressure Changes and Optic Nerve Head and Macular Perfusion Parameters During Isometric Exercise: OCTA Study

by Nina Krobot Čutura, Dominik-Mate Čutura, Maksimilijan Mrak, Ivanka Petric Vicković and Lana Ružić

Diagnostics 2026, 16(3), 374; https://doi.org/10.3390/diagnostics16030374 - 23 Jan 2026

Abstract

Background/Objectives: Optical coherence tomography angiography (OCTA) is a non-invasive imaging method that enables accurate in vivo visualisation and quantification of the macular and optic nerve head microvasculature, providing an indirect assessment of local retinal perfusion. This study aimed to evaluate the changes in [...] Read more.

Background/Objectives: Optical coherence tomography angiography (OCTA) is a non-invasive imaging method that enables accurate in vivo visualisation and quantification of the macular and optic nerve head microvasculature, providing an indirect assessment of local retinal perfusion. This study aimed to evaluate the changes in OCTA perfusion parameters of macula and optic nerve head in healthy individuals following different isometric exercises and to determine their association with intraocular pressure alterations. Methods: Each subject performed four isometric exercises: elbow plank, reverse plank, right-side plank, and wall sit. Measurements of intraocular pressure, systemic blood pressure, heart rate, and OCT angiography of macula and optic nerve head were conducted before each exercise, immediately after its completion, and after a five-minute rest period. Intraocular pressure was measured using a Perkins applanation tonometer, and systemic blood pressure and heart rate were recorded using an automated sphygmomanometer. The relationship between changes in intraocular pressure and OCTA perfusion parameters was analysed. Results: A total of 12 eyes of 12 healthy subjects were included in the study, with a mean age of 28.67 ± 2.39 years. An immediate reduction in optic nerve head vessel density was observed after each exercise (elbow plank: p = 0.012; wall sit: p = 0.009; reverse plank: p < 0.001; right-side plank: p < 0.001), with a sustained decrease during the rest period following right-side plank. No significant changes in vessel density were observed in the macular region. Heart rate and systemic blood pressure increased after each exercise, while intraocular pressure increased following all exercises except the wall sit. Changes in intraocular pressure were significantly negatively associated with changes in optic nerve head vessel density in the post-rest period following elbow plank (inside disc sector: b = −1.153, p = 0.02, peripapillary sector: b = −0.369, p = 0.009) and reverse plank (whole image sector: b = −0.589, p = 0.031). Conclusions: The performance of isometric exercises induced an acute reduction in optic nerve head vessel density, and a significant association with intraocular pressure changes was observed. OCTA represents a promising research tool not only for the assessment of retinal microcirculation but also in the field of sports medicine. Full article

(This article belongs to the Special Issue Applications of Optical Coherence Tomography and Optical Coherence Tomography Angiography in Ophthalmology)

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29 pages, 1809 KB

Open AccessReview

Machine Learning Applications for Venous Ulcer Assessment and Wound Care: A Review

by Miloš Madić, Nikola Vitković, Zoran Damnjanović and Sanja Stojanović

Diagnostics 2026, 16(3), 373; https://doi.org/10.3390/diagnostics16030373 - 23 Jan 2026

Abstract

Over recent years, venous ulcer wound care has experienced significant advancements through the application of machine learning (ML) models. The aim of the present study is a systematic, comprehensive analysis of prior research studies in this field covering the period between 2001 and [...] Read more.

Over recent years, venous ulcer wound care has experienced significant advancements through the application of machine learning (ML) models. The aim of the present study is a systematic, comprehensive analysis of prior research studies in this field covering the period between 2001 and August 2025. By searching multiple academic databases, including the Web of Science, Scopus, and PubMed, using relevant keywords and different queries, and screening reference lists of previously published manuscripts and review papers with a focus on the application of artificial intelligence in dermatology and medicine, an initial set of potential studies for review was obtained. To ensure the scope and relevance of the review, several inclusion and exclusion criteria were used to derive the final set of relevant research studies upon which a database for research data management was created. As a result, a total of 79 relevant research studies were comprehensively analysed, upon which detailed meta-analysis and analysis of application areas of ML models within venous ulcer wound care were conducted. Afterwards, a summary of benefits for medical systems and patients was given along with a general discussion regarding ML model limitations, trends, and opportunities, as well as research studies’ limitations and possible future research directions. The presented analyses may be valuable for researchers interested in applying ML models not only to venous ulcer wound care but also to other types of chronic wound care. Full article

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

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28 pages, 733 KB

Open AccessReview

Cardiovascular Involvement in Systemic Lupus Erythematosus: Focus on Arrhythmias

by Monica Claudia Dobos, Veronica Ungurean, Diana Elena Costan, Mara Russu, Anca Ouatu, Paula Cristina Morariu, Alexandru Florinel Oancea, Maria Mihaela Godun, Diana-Elena Floria, Dragos Traian Marcu, Genoveva Livia Baroi, Silviu Marcel Stanciu, Anton Knieling, Daniela Maria Tanase, Codrina Ancuta and Mariana Floria

Diagnostics 2026, 16(3), 372; https://doi.org/10.3390/diagnostics16030372 - 23 Jan 2026

Abstract

Background: Cardiovascular implications in systemic lupus erythematosus (SLE) are common and varied, including impacts on the pericardium, myocardium, valves, coronary arteries, and conduction system; all of these could be potential substrates or triggers of cardiac arrhythmias by interfering with disease severity and specific [...] Read more.

Background: Cardiovascular implications in systemic lupus erythematosus (SLE) are common and varied, including impacts on the pericardium, myocardium, valves, coronary arteries, and conduction system; all of these could be potential substrates or triggers of cardiac arrhythmias by interfering with disease severity and specific medication. Therefore, this narrative review aimed to assess the cardiac involvement in SLE underlying, mainly, cardiac arrhythmias. Methods: We analyzed studies, published between 2015 and 2025 on PubMed, which explore cardiovascular involvement with a focus on arrhythmias in SLE from the perspectives of epidemiology, underlying mechanisms, diagnostic techniques, and the impact of standard and biologic therapies. Results: The cardiac manifestation of LES (lupus pericarditis, lupus myocarditis, Libman–Sacks endocarditis, coronary artery disease, coronary vasculitis or myocardial fibrosis) represents a substrate for arrhythmia risk. These substrates, in association with other arrhythmias mechanisms considered as triggers or conduction abnormalities, determined arrhythmogenic conditions in these patients. In addition to structural heart disease, arrhythmias in SLE are caused by ongoing inflammation, immune system irregularities, microvascular problems, autonomic imbalance, oxidative stress, and side effects from treatments. Despite this complex background, arrhythmias are often overlooked and not routinely investigated in SLE care. Data that show how disease-modifying drugs may affect arrhythmias are limited and inconsistent, highlighting significant gaps in knowledge. Cardiac arrhythmias are a significant but, as yet, insufficiently underrecognized aspect of SLE, with serious implications for prognosis. Conclusions: Systemic lupus erythematosus causes cardiovascular involvement that is associated with arrhythmias through various and complexes mechanisms, mainly related to direct cardiovascular structural damage, systemic inflammation or specific therapies. Data on arrhythmias secondary to cardiovascular damage in patients with SLE in the literature are limited. Therefore, early detection of electrical issues, regular cardiovascular evaluation in high-risk patients, and careful management of treatment effects are vital. A coordinated, multidisciplinary cardio-rheumatology approach is essential to improving arrhythmia detection, tailoring treatments, and ultimately decreasing cardiovascular complications and deaths in SLE patients. Full article

(This article belongs to the Special Issue Advances and Challenges in the Diagnosis and Treatment of Rheumatic Diseases)

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11 pages, 381 KB

Open AccessArticle

Associations Between Physical Fitness and Health-Related Quality of Life in Children with Obesity

by Aldona Wierzbicka-Rucińska, Anna Wrona, Mieczysław Szalecki, Joanna Mazur and Jacek Podogrodzki

Diagnostics 2026, 16(3), 371; https://doi.org/10.3390/diagnostics16030371 - 23 Jan 2026

Abstract

Obesity is associated with multiple comorbidities and therefore requires a multidisciplinary approach. Particular attention is given to the role of visceral adiposity and its impact on quality of life. Childhood obesity, in particular, is a major global public health challenge with physical, psychological, [...] Read more.

Obesity is associated with multiple comorbidities and therefore requires a multidisciplinary approach. Particular attention is given to the role of visceral adiposity and its impact on quality of life. Childhood obesity, in particular, is a major global public health challenge with physical, psychological, and social consequences extending into adulthood. Within the framework of personalized medicine, assessing physical fitness and health-related quality of life (HRQoL) offers valuable insight for defining individualized therapeutic goals. Objective: To evaluate the relationship between physical fitness and HRQoL in children with simple obesity and to highlight the potential value of personalized approaches in pediatric obesity management. Methods: This study included 123 patients aged 8–16 years with simple obesity who were hospitalized at the Children’s Memorial Health Institute in Warsaw. Obesity was diagnosed according to CDC growth charts (OLAF study). Physical fitness was assessed using the EUROFIT test battery (8 trials), and HRQoL was measured with the Kidscreen-52 questionnaire (10 domains). Results: The overall EUROFIT test performance in the study group was significantly lower compared with population norms (p < 0.001). Similarly, HRQoL scores reported by both children and their parents were significantly below reference values (p < 0.001). Conclusions: Reduced physical fitness is strongly associated with impaired quality of life in children with obesity. Personalized interventions aimed at improving motor performance may represent an effective strategy in the prevention and treatment of pediatric obesity. Full article

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

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10 pages, 966 KB

Open AccessArticle

Recognizing ALBI Grade in Child-Pugh A Patients at a Glance: Mathematical Simulation and Large-Scale Clinical Validation

by Po-Heng Chuang, Yuan-Jie Ding, Chih-Yun Lin and Sheng-Nan Lu

Diagnostics 2026, 16(3), 370; https://doi.org/10.3390/diagnostics16030370 - 23 Jan 2026

Abstract

Background: The albumin–bilirubin (ALBI) grade provides an objective assessment of hepatic reserve, but the need for calculation by means of a formula has hampered its use at the bedside. This study aimed to develop simple cut-off values for ALBI grade and validate its [...] Read more.

Background: The albumin–bilirubin (ALBI) grade provides an objective assessment of hepatic reserve, but the need for calculation by means of a formula has hampered its use at the bedside. This study aimed to develop simple cut-off values for ALBI grade and validate its performance in a large multi-center real-world cohort. Methods: A mathematical simulation evaluated every possible ALBI pair that falls within the Child–Pugh classification (CP) A range, discretized to 0.1 increments. Cut points for patient stratification without equation-based calculation were derived. Validation was conducted with the Chang Gung Research Database (CGRD), which contains data from 10 hospitals in Taiwan. Patients with same-day albumin and bilirubin measurements in 2024 were included. Results: Mathematical modeling identified clinically applicable cutoffs—albumin ≥ 4.4 g/dL or ≤3.5 g/dL and bilirubin ≥ 2.4 mg/dL—with further refinement at albumin 4.0 g/dL and bilirubin ≥ 1.0 mg/dL. Among 7583 CP-A patients, 82% were directly classifiable without computation, with consistent applicability across chronic liver disease and hepatocellular carcinoma (HCC) subgroups. Equation dependence increased only slightly in the HCC group, confirming robustness across disease severities. Conclusions: Simplified cutoff rules derived from mathematical modeling and validated in a multi-center cohort enable rapid recognition of ALBI grade in most CP-A patients. This approach enhances the clinical usability of ALBI and supports its integration into patient care, clinical trials, and treatment allocation. Full article

(This article belongs to the Special Issue Advances in Diagnosis and Management of Liver Diseases)

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12 pages, 1839 KB

Open AccessArticle

Quantitative Ultrasound Assessment of Skeletal Muscle Microvascularity in Relation to Serum 25-Hydroxyvitamin D Concentrations

by Nusret Seher, Lütfiye Parlak, Halil Özer, Esra Öz, Mehmet Sedat Durmaz and Mustafa Koplay

Diagnostics 2026, 16(3), 369; https://doi.org/10.3390/diagnostics16030369 - 23 Jan 2026

Abstract

Background/Objective: Vitamin D plays an important role in musculoskeletal health; however, its association with skeletal muscle microvascular perfusion has not been clearly defined using quantitative imaging techniques. To investigate the relationship between serum 25-hydroxyvitamin D [25(OH)D] levels and skeletal muscle microvascularity using an [...] Read more.

Background/Objective: Vitamin D plays an important role in musculoskeletal health; however, its association with skeletal muscle microvascular perfusion has not been clearly defined using quantitative imaging techniques. To investigate the relationship between serum 25-hydroxyvitamin D [25(OH)D] levels and skeletal muscle microvascularity using an advanced ultrasound-based microvascular imaging method. Methods: In this cross-sectional study a total of 141 healthy adults were stratified into two groups according to serum 25(OH)D concentration (<20 ng/mL, n = 71; ≥20 ng/mL, n = 70). Ultra-Micro-Angiography was used to quantitatively assess the vascular index (VI), while cross-sectional area (CSA) measurements were obtained for the flexor carpi radialis, biceps brachii, and tibialis anterior muscles. Group comparisons and receiver operating characteristic (ROC) analyses were performed to evaluate the discriminative performance of microvascular parameters. Results: CSA values did not differ significantly between the groups. In contrast, VI values were significantly higher in participants with higher serum 25(OH)D levels across all examined muscles (p < 0.001). Among the evaluated parameters, the biceps brachii VI demonstrated excellent diagnostic performance in distinguishing between groups (AUC = 0.992; optimal cut-off = 1.25). Conclusions: Serum 25(OH)D levels are strongly associated with skeletal muscle microvascularity independent of muscle size. These findings demonstrate a strong association between serum 25-hydroxyvitamin D concentration and skeletal muscle microvascularity and highlight the potential of ultra-micro-angiography as a non-invasive imaging approach for detecting microvascular differences related to vitamin D status. Full article

(This article belongs to the Section Medical Imaging and Theranostics)

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11 pages, 1091 KB

Open AccessArticle

Preliminary Evaluation of the Effect of Body Weight on Contrast Enhancement in Coronary CT Angiography: A Fixed Iodine-Dose Protocol

by Fahad Alraddadi, Hasan Almalki, Rana Saklou, Faris Jawad, Zyad M. Almutlaq, Awad Alzahrani, Meshal Alzahrani, Ghada Alturkstani, Waleed Alharbi, Wed Shaibah and Nasser M. Alzahrani

Diagnostics 2026, 16(3), 368; https://doi.org/10.3390/diagnostics16030368 - 23 Jan 2026

Abstract

Objective: To assess the effectiveness of a fixed contrast injection protocol—75 mL of contrast followed by 40 mL saline at 5 mL/s with an injection duration of 23 s—in achieving diagnostic enhancement in coronary CT angiography (CCTA) using 64-slice detector CT scanner. [...] Read more.

Objective: To assess the effectiveness of a fixed contrast injection protocol—75 mL of contrast followed by 40 mL saline at 5 mL/s with an injection duration of 23 s—in achieving diagnostic enhancement in coronary CT angiography (CCTA) using 64-slice detector CT scanner. Materials and Methods: 456 consecutive patients with suspected coronary disease who underwent CCTA on a 64-slice detector CT scanner between January 2023 and December 2024 and were retrospectively enrolled. Each patient received 75 mL of contrast medium followed by 40 mL of saline at a flow rate of 5 mL/s, with a total injection duration of 23 s. Two radiologists, blinded to patient information, independently measured the contrast enhancement (HU) values in the coronary segments, ascending and descending aorta, and left ventricle. Attenuation levels ≥250 HU were considered diagnostic. Patients were grouped by body weight into two categories: Group 1 (≤75 kg) and Group 2 (>75 kg). The independent t-test and Mann–Whitney U test were used to compare HU values in each vessel between the two groups, while the Chi-square test was applied to compare enhancement success rates (HU ≥ 250) between the groups per vessel. Results: A total of 281 patients (mean age: 51.88 years ± 11.15 [SD]; 167 male, 114 female), were included. Statistically significant differences in the HU enhancement measurements were found between groups (p < 0.001–0.007). However, all segments showed mean and median HU values above 250 HU. Enhancement success rates were significantly higher in Group 1 (p = 0.005–0.04), except in the ascending aorta, descending aorta, left main coronary artery, middle right coronary, distal right coronary artery, and middle left circumflex artery, where the rates were statistically comparable between the groups (p = 0.054–0.61). Conclusions: A fixed contrast protocol (75 mL of contrast medium followed by 40 mL of saline at a 5 mL/s flow rate with a total injection duration of 23 s) appears to be feasible for achieving diagnostic contrast enhancement in CCTA using a 64-slice multidetector CT scanner. This protocol may offer a simplified alternative to individualized, weight-based contrast dosing strategies. Full article

(This article belongs to the Section Medical Imaging and Theranostics)

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34 pages, 2721 KB

Open AccessReview

Imaging Evaluation for Jaw Deformities: Diagnostic Workup and Pre-Treatment Imaging Checklist for Orthognathic Surgery

by Hiroki Tsurushima, Masafumi Oda, Kaori Kometani-Gunjikake, Tomohiko Shirakawa, Shinobu Matsumoto-Takeda, Nao Wakasugi-Sato, Shun Nishimura, Kazuya Haraguchi, Susumu Nishina, Tatsuo Kawamoto, Manabu Habu, Izumi Yoshioka, Toshiaki Arimatsu and Yasuhiro Morimoto

Diagnostics 2026, 16(2), 367; https://doi.org/10.3390/diagnostics16020367 - 22 Jan 2026

Abstract

In addition to standardized lateral cephalometric radiographs, comprehensive assessment using dental cone-beam computed tomography (CBCT) and CT has become commonplace in the diagnosis and treatment of jaw deformities. Simulation based on cephalometric and CT data is particularly useful in the management of jaw [...] Read more.

In addition to standardized lateral cephalometric radiographs, comprehensive assessment using dental cone-beam computed tomography (CBCT) and CT has become commonplace in the diagnosis and treatment of jaw deformities. Simulation based on cephalometric and CT data is particularly useful in the management of jaw deformities, both for evaluation and prognostic prediction. As such imaging examinations cover a wide anatomical region, it is not uncommon for various incidental pathologies to be discovered. This review emphasizes the necessity of evaluating the entire imaged area in addition to the chief complaint. Furthermore, it outlines the essential anatomical structures that should be assessed during diagnostic imaging performed prior to representative surgical procedures for jaw deformities (e.g., sagittal split ramus osteotomy and Le Fort I osteotomy). This review paper is descriptive in nature, incorporating our facility’s empirical aspects, and presents representative cases in a narrative format; it is not a systematic review. In other word, as the evidence-based literature does not cover all aspects of pretreatment evaluation, these criteria are based on the past experience of the authors. Full article

(This article belongs to the Section Medical Imaging and Theranostics)

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