Diagnostics

19 pages, 724 KiB

Open AccessArticle

Analyzing the Gaps in Breast Cancer Diagnostics in Poland—A Retrospective Observational Study in the Data Donation Model

by Wojciech Sierocki, Ligia Kornowska, Oliver Slapal, Agata Koska, Gabriela Sierocka, Alicja Dudek, Claudia Dompe, Michał Suchodolski, Przemysław Keczmer and Magdalena Roszak

Diagnostics 2025, 15(17), 2127; https://doi.org/10.3390/diagnostics15172127 - 22 Aug 2025

Abstract

Background: Breast cancer is a major health concern in Poland, with significant incidence and mortality rates despite national screening programs. This retrospective study aimed to evaluate critical aspects of breast cancer management, focusing on waiting times, treatment coordination, cancer characteristics, diagnostic testing, and [...] Read more.

Background: Breast cancer is a major health concern in Poland, with significant incidence and mortality rates despite national screening programs. This retrospective study aimed to evaluate critical aspects of breast cancer management, focusing on waiting times, treatment coordination, cancer characteristics, diagnostic testing, and staging. Methods: We retrospectively analyzed 587 medical records of breast cancer patients (585 female, 2 male) collected between March 2023 and June 2024 through a data donation model. Data included tumor characteristics (histological type, grade, stage, biological subtype, receptor status, Ki-67), diagnostic and genetic tests, and timelines of key events in the diagnostic and therapeutic pathways. Results: Although referral to first oncology consult (18 days) and MDT referral/admission to treatment (10 days) met NFZ guidelines, diagnosis to surgery (94 days) and diagnosis to drug treatment (109 days) were significantly delayed. No records showed oncology coordinator assignment or educational material provision. Clinically, invasive carcinoma NST (77%) and early-stage (IA/IIA, 61%) were prevalent, with Luminal B (HER2-negative) being the most common biological subtype. BRCA1/2 testing was common, but Oncotype DX was not. For 314 HR+ HER2- patients, stage IA (44%) was most common, with no BRCA1/2 mutations found. Conclusion: Breast cancer care in the Łódź voivodeship falls short of national guidelines due to long waiting times and poor care coordination, a problem worsened by incomplete data. Improving record-keeping and speeding up diagnostic and treatment pathways are crucial for better breast cancer management in Poland. While patient data donation can help analyze real clinical pathways, data completeness, and consistency remain challenges. Full article

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

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19 pages, 886 KiB

Open AccessArticle

Evaluating NT-proBNP-to-Albumin (NTAR) and RDW-to-eGFR (RGR) Ratios as Biomarkers for Predicting Hospitalization Duration and Mortality in Pulmonary Arterial Hypertension (PAH) and Chronic Thromboembolic Pulmonary Hypertension (CTEPH)

by Dragos Gabriel Iancu, Liviu Cristescu, Razvan Gheorghita Mares, Andreea Varga and Ioan Tilea

Diagnostics 2025, 15(17), 2126; https://doi.org/10.3390/diagnostics15172126 - 22 Aug 2025

Abstract

Background/Objectives: Prognostic biomarkers are essential for guiding the clinical management of pulmonary hypertension (PH). This study aimed to assess both established and novel biomarkers—specifically, the red cell distribution width-to-estimated glomerular filtration rate ratio (RGR) and the NT-proBNP-to-albumin ratio (NTAR)—for their ability to [...] Read more.

Background/Objectives: Prognostic biomarkers are essential for guiding the clinical management of pulmonary hypertension (PH). This study aimed to assess both established and novel biomarkers—specifically, the red cell distribution width-to-estimated glomerular filtration rate ratio (RGR) and the NT-proBNP-to-albumin ratio (NTAR)—for their ability to predict length of hospital stay (LOS), prolonged LOS (ELOS), in-hospital mortality, and 3-month all-cause mortality in patients with pulmonary arterial hypertension (PAH) and chronic thromboembolic pulmonary hypertension (CTEPH). Methods: A retrospective analysis was conducted on 275 PH-related hospital regular admissions (148 PAH; 127 CTEPH). Established biomarkers—including serum albumin, neutrophil-to-lymphocyte ratio (NLR), Log NT-proBNP, red cell distribution width (RDW), and estimated glomerular filtration rate (eGFR)—as well as novel indices (RGR, and NTAR) were examined for their relationships with LOS, ELOS, in-hospital mortality, and 3-month all-cause mortality. Spearman correlation, univariate logistic regression, and ROC analyses evaluated biomarker relationships and predictive performance. Results: Serum albumin independently predicted in-hospital and 3-month mortality in PAH, while in CTEPH, it inversely correlated with LOS and strongly predicted prolonged hospitalization and mortality (AUC = 0.833). NLR had limited correlation with LOS but predicted mortality across both groups. RDW correlated weakly with LOS, significantly predicting prolonged hospitalization (threshold > 52.1 fL) in PAH but not in CTEPH. Preserved renal function (eGFR > 60 mL/min/1.73 m²) was inversely associated with LOS in CTEPH patients, suggesting a protective effect. Additionally, reduced eGFR significantly predicted mortality in both PAH (AUC = 0.701; optimal cut-off ≤ 97.4 mL/min/1.73 m²) and CTEPH (AUC = 0.793; optimal cut-off ≤ 59.2 mL/min/1.73 m²) groups. NTAR (AUC = 0.817) outperformed Log NT-proBNP alone in predicting extended hospitalization and mortality, whereas RGR correlated with LOS and predicted in-hospital mortality. Phenotype-specific analysis demonstrated that inflammatory and renal biomarkers had a stronger prognostic impact in CTEPH. Conclusions: Stratification by PH phenotype highlighted the greater prognostic significance of inflammatory and renal indices, particularly in patients with CTEPH. Incorporating NTAR and RGR into clinical workflows may enhance risk stratification and enable more precisely targeted interventions to improve outcomes in pulmonary hypertension. Full article

(This article belongs to the Special Issue Diagnosis, Classification, and Monitoring of Pulmonary Diseases)

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11 pages, 1361 KiB

Open AccessReview

Clinical Utility of eZIS in Cerebral Blood Flow SPECT

by Shinji Yamamoto, Nobukiyo Yoshida, Noriko Sakurai, Yukinori Okada, Masayuki Satoh, Koji Takeshita, Motoki Nakai, Koichiro Abe, Mana Yoshimura and Kazuhiro Saito

Diagnostics 2025, 15(17), 2125; https://doi.org/10.3390/diagnostics15172125 - 22 Aug 2025

Abstract

Cerebral perfusion single-photon emission computed tomography (SPECT) is a nuclear medicine imaging technique that uses radiopharmaceuticals that selectively accumulate in the brain. However, cerebral perfusion SPECT is typically interpreted through visual assessment, making the results susceptible to observer subjectivity and varying levels of [...] Read more.

Cerebral perfusion single-photon emission computed tomography (SPECT) is a nuclear medicine imaging technique that uses radiopharmaceuticals that selectively accumulate in the brain. However, cerebral perfusion SPECT is typically interpreted through visual assessment, making the results susceptible to observer subjectivity and varying levels of experience. The easy Z-score Imaging System (eZIS) is a software that quantitatively analyzes cerebral perfusion SPECT images obtained using 99mTc-ECD by comparing them with a normal database and applying Z-scores for quantification. The eZIS received regulatory approval in January 2015 and is currently used as an auxiliary tool for clinical diagnosis. The eZIS aids in diagnosing Alzheimer’s disease by quantifying the degree of cerebral blood flow reduction in the posterior cingulate gyrus, precuneus, and parietal lobe, which are characteristic regions affected by the disease. Additionally, it can assist in diagnosing Lewy body dementia by evaluating the “cingulate island sign,” a characteristic finding in which cerebral blood flow in the posterior cingulate gyrus and precuneus is relatively preserved compared with that in the occipital lobe. eZIS is thus extremely useful for dementia diagnosis. Full article

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

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12 pages, 2843 KiB

Open AccessArticle

Unsupervised Machine Learning to Identify Patient Clusters and Tailor Perioperative Care in Colorectal Surgery

by Philip Deslarzes, He Ayu Xu, Jean Louis Raisaro, Martin Hübner and Fabian Grass

Diagnostics 2025, 15(17), 2124; https://doi.org/10.3390/diagnostics15172124 - 22 Aug 2025

Abstract

Background: The aim of the present study was to apply machine learning (ML) techniques to define clusters relating patient demographics, compliance, and outcome variables in colorectal enhanced recovery after surgery (ERAS) patients and improve data-driven, predictive decision-making. Methods: To uncover inherent [...] Read more.

Background: The aim of the present study was to apply machine learning (ML) techniques to define clusters relating patient demographics, compliance, and outcome variables in colorectal enhanced recovery after surgery (ERAS) patients and improve data-driven, predictive decision-making. Methods: To uncover inherent patient subgroups from the data without pre-defined labels, the unsupervised K-means clustering algorithm was utilized. This technique was selected for its effectiveness in partitioning patients into distinct groups by iteratively assigning them to the nearest cluster mean, thereby minimizing within-cluster variance across key variables. The top five recovery goals and the top 10 clinical outcome variables were defined based on clinical considerations (incidence and importance). In a second step, the cluster transition was traced by monitoring the transitions between clusters from demographic through compliance to outcome variables. Results: A total of 1381 patients were available for final analysis, revealing three clusters (low risk, n = 490, 36%; intermediate risk, n = 157, 11%; and high risk, n = 734, 53%) for demographic, two clusters (high compliance, n = 1011, 73%, and low compliance n = 370, 27%) for perioperative, and two clusters (good and poor outcomes) for the top five recovery goals and the top 10 clinical outcomes, respectively. The cluster transition for the top five recovery goals and the top 10 clinical outcomes revealed that most patients (488/490, 99.6%) of the low-risk demographic cluster had high perioperative compliance, and over 90% of them had favorable functional and clinical outcomes. Of the 2/3 of intermediate risk patients who had poor perioperative compliance, over 40% had a poor functional recovery, whereas 83% had good clinical outcomes. Of the high-risk demographic group, 100% (734/734) had low perioperative compliance, and over 40% of them had poor functional recovery. Conclusions: This ML-based analysis of demographic, compliance, and recovery clusters and associated cluster transition allowed us to identify patient clusters as a first step to tailored ERAS protocols aiming to improve compliance and outcomes. Full article

(This article belongs to the Special Issue Advancing Clinical Diagnosis with Artificial Intelligence: Applications, Challenges, and Future Directions)

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11 pages, 840 KiB

Open AccessCase Report

Single-Session Bilateral Genicular Artery Embolization for Knee Osteoarthritis via Brachial Access: A Case Report and Literature Review

by Andrei Marian Feier, Florin Bloj, Octav Marius Russu, Andrei Bloj and Tudor Sorin Pop

Diagnostics 2025, 15(17), 2123; https://doi.org/10.3390/diagnostics15172123 - 22 Aug 2025

Abstract

Background/Objectives: Knee osteoarthritis (OA) significantly affects quality of life and poses substantial treatment challenges in patients with severe comorbidities that contraindicate total knee arthroplasty. Transarterial periarticular embolization (TAE) has developed as a minimally invasive alternative targeting pathological periarticular hypervascularity. Bilateral embolization in a [...] Read more.

Background/Objectives: Knee osteoarthritis (OA) significantly affects quality of life and poses substantial treatment challenges in patients with severe comorbidities that contraindicate total knee arthroplasty. Transarterial periarticular embolization (TAE) has developed as a minimally invasive alternative targeting pathological periarticular hypervascularity. Bilateral embolization in a single session has not yet been clearly documented. This case report describes the application of bilateral genicular artery embolization using bioresorbable gelatin microspheres. Case report: A 68-year-old male patient with severe bilateral knee OA and multiple cardiovascular comorbidities underwent simultaneous bilateral TAE using Nexsphere-F microspheres (100–300 µm). Embolization targeted hypervascular genicular branches identified through digital subtraction angiography preserving normal capsular and osseous perfusion. Results: At one-month follow-up, the patient’s pain score decreased dramatically (VAS from 8/10 to 2/10), accompanied by marked functional improvement (WOMAC score: from 64 to 84; KOOS score: from 49 to 72). No intraoperative or postoperative complications occurred and the patient required no analgesics post-procedure. Conclusions: Bilateral, same-session genicular artery embolization using bioresorbable gelatin microspheres provided short-term clinical benefits in a patient with advanced knee OA contraindicated for surgery. Full article

(This article belongs to the Special Issue Challenges in Monitoring and Diagnosis in Medical Sciences)

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12 pages, 332 KiB

Open AccessArticle

Comparison of Bilateral Versus Unilateral Transversus Abdominis Plane Block Combined with Spinal Anesthesia in Laparoscopic Appendectomy: A Retrospective Observational Study

by Abdulhakim Şengel, Evren Büyükfırat, Selçuk Seçilmiş, Nuray Altay, Ahmet Atlas and Mahmut Alp Karahan

Diagnostics 2025, 15(17), 2122; https://doi.org/10.3390/diagnostics15172122 - 22 Aug 2025

Abstract

Background/Objectives: Laparoscopic appendectomy (LsA) is a standard acute surgical procedure typically performed under general anesthesia (GA). However, GA is associated with side effects such as hemodynamic instability and postoperative nausea/vomiting. Regional anesthesia (RA) has gained attention as an effective alternative in such surgeries, [...] Read more.

Background/Objectives: Laparoscopic appendectomy (LsA) is a standard acute surgical procedure typically performed under general anesthesia (GA). However, GA is associated with side effects such as hemodynamic instability and postoperative nausea/vomiting. Regional anesthesia (RA) has gained attention as an effective alternative in such surgeries, as it reduces surgical stress responses, provides adequate postoperative analgesia, and promotes early mobilization. This study evaluates the effectiveness of the combined use of spinal anesthesia (SA) and transversus abdominis plane block (TAPB) in LsA procedures. Methods: This retrospective observational study included 220 patients who underwent LsA between 2020 and 2023. Patients were divided into two groups: Group 1 (n = 110) received bilateral TAPB, and Group 2 (n = 110) received unilateral TAPB, both under SA. Postoperative pain was assessed using the Visual Analog Scale (VAS), and outcomes such as time to first analgesic requirement, analgesic consumption, and patient satisfaction were recorded. Results: This study evaluated the effects of SA combined with TAPB in LsA. Bilateral TAPB significantly prolonged the time to first analgesic request (13.7 vs. 12.1 h; p = 0.001) and reduced analgesic requirements (p = 0.008) compared to unilateral TAPB. VAS scores were significantly lower in Group 1 at the 9th and 12th hours postoperatively (p = 0.003 and p = 0.039). Although overall satisfaction scores were similar, a higher proportion of patients in Group 1 reported being “very satisfied” or “excellent” (55.5% vs. 42.7%). Conclusions: The combination of spinal anesthesia and bilateral TAPB is a safe and effective anesthetic strategy for LsA. Compared to unilateral TAPB, it offers superior postoperative analgesia and improved patient satisfaction. Full article

(This article belongs to the Special Issue Clinical Diagnosis and Management in Anesthesia and Pain Medicine)

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12 pages, 965 KiB

Open AccessArticle

Clinical Characteristics and Survival of Patients with Idiopathic Pulmonary Fibrosis: Analysis of the Serbian Cohort from the EMPIRE Registry

by Sanja Dimic-Janjic, Mihailo Stjepanovic, Slobodan Belic, Dragan Vukosavljevic, Ivan Milivojevic, Nikola Trboljevac, Nikola Nikolic, Slavko Stamenic, Maja Stojanovic, Kristina Stosic, Martina Koziar Vasakova, Ruza Stevic, Nikola Colic, Katarina Lukic, Miroslav Ilic, Lidija Isovic, Nikola Maric, Spasoje Popevic, Violeta Vucinic-Mihailović, Svetlana Kasikovic Lecic, Slavica Mojsilovic, Tatjana Pejcic, Dragana Jovanovic and the Serbian EMPIRE Investigators Show full author list Hide full author list

Diagnostics 2025, 15(17), 2121; https://doi.org/10.3390/diagnostics15172121 - 22 Aug 2025

Abstract

Background/Objectives: Idiopathic pulmonary fibrosis (IPF) registries are established to enhance understanding of its natural history. Methods: Serbia (RS) participated in the EMPIRE (European Multi-Partner IPF Registry) from June 2015 to October 2022, involving four centers. The registry included patients over 18 [...] Read more.

Background/Objectives: Idiopathic pulmonary fibrosis (IPF) registries are established to enhance understanding of its natural history. Methods: Serbia (RS) participated in the EMPIRE (European Multi-Partner IPF Registry) from June 2015 to October 2022, involving four centers. The registry included patients over 18 diagnosed with IPF based on the 2011 international criteria. We aimed to gather key clinical, functional, and survival data, along with treatment information for IPF patients in RS, using a centralized electronic case report for consistency. Results: 188 RS patients participated (median age at diagnosis 65, 63.8% male, 51% smoking history, 56% radiological usual interstitial pneumonia (UIP) pattern). At the diagnosis, median forced vital capacity (FVC) was 73.7% and diffusion capacity for carbon monoxide (DL_CO) was 38%. At initiation of antifibrotic therapy, median FVC was 73.2% (71.5% for deceased, 75.8% for survivors (p = 0.455), and DL_CO was 33.8% (19.9% for deceased, and 35.6% for survivors (p = 0.046)). The median long-term survival from diagnosis was 29.4 months (95% CI: 22.6–36.2 months), and 9.4 months (95% CI: 5.9–12.9 months) from the initiation of therapy, with no difference in the duration of antifibrotic treatment between survivors and deceased (p = 0.598). Conclusions: The RS EMPIRE cohort represents a younger, less comorbid population with fewer smokers and more probable UIP, factors linked to a favorable prognosis. Nevertheless, survival was poorer than expected, mainly due to advanced disease severity at the time of antifibrotic initiation, as indicated by lower DL_CO. These findings highlight the importance of earlier diagnosis and treatment before significant physiological decline to improve outcomes. Full article

(This article belongs to the Special Issue Respiratory Diseases: Diagnosis and Management)

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15 pages, 303 KiB

Open AccessReview

A Multidisciplinary Approach to Obesity Hypoventilation Syndrome: From Diagnosis to Long-Term Management—A Narrative Review

by Mara Andreea Vultur, Bianca Liana Grigorescu, Dragoș Huțanu, Edith Simona Ianoși, Corina Eugenia Budin and Gabriela Jimborean

Diagnostics 2025, 15(17), 2120; https://doi.org/10.3390/diagnostics15172120 - 22 Aug 2025

Abstract

Obesity Hypoventilation Syndrome (OHS), also known as Pickwickian syndrome, is a complex disorder characterized by obesity (BMI > 30 kg/m²), daytime hypercapnia (PaCO₂ ≥ 45 mmHg), and sleep-disordered breathing, primarily affecting individuals with severe obesity. Its diagnosis requires the exclusion [...] Read more.

Obesity Hypoventilation Syndrome (OHS), also known as Pickwickian syndrome, is a complex disorder characterized by obesity (BMI > 30 kg/m²), daytime hypercapnia (PaCO₂ ≥ 45 mmHg), and sleep-disordered breathing, primarily affecting individuals with severe obesity. Its diagnosis requires the exclusion of other causes of alveolar hypoventilation and involves comprehensive assessments, including clinical history, physical examination, pulmonary function tests, arterial blood gases, and sleep studies. The pathophysiology of OHS involves mechanical constraints from excessive adipose tissue, diminished central respiratory drive often linked to leptin resistance, mitochondrial dysfunction, and oxidative stress, all contributing to impaired ventilation and systemic inflammation. The condition often coexists with obstructive sleep apnea (OSA), exacerbating nocturnal hypoxia and hypercapnia, which can lead to severe cardiopulmonary complications such as pulmonary hypertension and right-sided heart failure. Epidemiologically, the rising global prevalence of obesity correlates with an increased incidence of OHS, yet underdiagnosis remains a significant challenge, often resulting in critical presentations like acute hypercapnic respiratory failure. Management primarily centers on non-invasive ventilation modalities like CPAP and BiPAP, with an emphasis on individualized treatment plans, continuous monitoring, and addressing comorbidities such as hypertension and diabetes. Pharmacological interventions are still evolving, focusing on supportive care and metabolic regulation. Long-term adherence, psychological factors, and complications like ventilator failure or device intolerance highlight the need for ongoing multidisciplinary management. Overall, advancing our understanding of OHS’s multifactorial mechanisms and optimizing tailored therapeutic strategies are crucial for improving patient outcomes and reducing mortality associated with this increasingly prevalent syndrome. Full article

(This article belongs to the Special Issue Advances in Pulmonary and Critical Care Medicine: Diagnosis and Management)

14 pages, 1412 KiB

Open AccessArticle

The Diagnostic and Prognostic Value of ¹⁸F-FDG PET/MR in Hypopharyngeal Cancer

by Cui Fan, Xinyun Huang, Hao Wang, Haixia Hu, Jichang Wu, Xiangwan Miao, Yuenan Liu, Mingliang Xiang, Nijun Chen and Bin Ye

Diagnostics 2025, 15(17), 2119; https://doi.org/10.3390/diagnostics15172119 - 22 Aug 2025

Abstract

Objective: To evaluate the diagnostic performance of fluorine 18 fluorodeoxyglucose positron emission tomography/magnetic resonance imaging (¹⁸F-FDG PET/MR) in the preoperative staging of hypopharyngeal cancer (HPC), compare it with conventional enhanced computed tomography (CT) and MR, and further explore the prognostic value [...] Read more.

Objective: To evaluate the diagnostic performance of fluorine 18 fluorodeoxyglucose positron emission tomography/magnetic resonance imaging (¹⁸F-FDG PET/MR) in the preoperative staging of hypopharyngeal cancer (HPC), compare it with conventional enhanced computed tomography (CT) and MR, and further explore the prognostic value of its metabolic and diffusion metrics for HPC. Methods: This retrospective study included 33 patients with pathologically confirmed HPC. All patients underwent preoperative ¹⁸F-FDG PET/MR, CT, and MR examination. The staging performance of the three modalities was evaluated using pathological staging as a reference. Additionally, metabolic indicators and diffusion-related parameters from PET/MR were collected to investigate their impact on larynx preservation and survival. Results: PET/MR demonstrated accuracies of 90.9% and 71.4% in the preoperative T and N staging, respectively, significantly higher than those of CT (54.5%, p = 0.001; 42.9%, p = 0.021) and MR (66.7%, p = 0.016; 42.9%, p = 0.021). On the whole, significant differences emerged in the maximum standard uptake value (SUVmax), metabolic tumor volume (MTV), minimum apparent diffusion coefficient (ADCmin), and mean ADC (ADCmean) and combined ratios across different T stages, while SUVmax, mean SUV (SUVmean), total lesion glycolysis (TLG), and MTV varied significantly across different N stages. The ADCmin and ADCmean showed good predictive capability for larynx preservation, with AUCs of 0.857 and 0.920 (p < 0.05), respectively. In Cox multivariate analysis of overall survival, high-level ADCmean (p = 0.004) and low-level TLG/ADCmean (p = 0.022) were significantly associated with better survival. Conclusion: In HPC, ¹⁸F-FDG PET/MR imaging significantly surpasses CT and MR in preoperative diagnostic staging. Its diffusion-related parameters have substantial prognostic value, with high ADC values associated with larynx preservation. ADCmean and TLG/ADCmean are potential prognostic indicators for HPC. Full article

(This article belongs to the Special Issue Multimodal Imaging: Enhancing Precision Medicine Across Diverse Clinical Pathways)

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24 pages, 831 KiB

Open AccessSystematic Review

Motor Coordination Assessment in Autism Spectrum Disorder: A Systematic Review

by Adriana Piccolo, Chiara Raciti, Marcella Di Cara, Simona Portaro, Rosalia Muratore, Carmela De Domenico, Alessia Fulgenzi, Carmela Settimo, Angelo Quartarone, Francesca Cucinotta and Angelo Alito

Diagnostics 2025, 15(17), 2118; https://doi.org/10.3390/diagnostics15172118 - 22 Aug 2025

Abstract

Background/Objectives: Motor difficulties are commonly reported in autistic individuals, but they are not currently part of the diagnostic criteria. A better understanding of how motor impairments are assessed in this population is critical to inform clinical practice and intervention. This systematic review aims [...] Read more.

Background/Objectives: Motor difficulties are commonly reported in autistic individuals, but they are not currently part of the diagnostic criteria. A better understanding of how motor impairments are assessed in this population is critical to inform clinical practice and intervention. This systematic review aims to evaluate the existing literature on motor skill assessment in autistic children and adolescents, focusing specifically on studies that employed standardized and validated clinical motor assessment tools. Methods: Registered on PROSPERO (CRD42025637880), a systematic search was conducted on PubMed, Science Direct, and Web of Science until 31 December 2024. The review includes: (a) studies published in peer-reviewed journals; (b) randomized controlled trials (RCTs) and observational studies; (c) evaluations of motor difficulties using standardized and validated clinical assessments specifically designed to measure motor skills or coordination abilities; (d) participants diagnosed with ASD based on the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV or DSM-5) or the International Classification of Diseases (ICD-9 or ICD-10); and (e) participants aged ≤18 years; Results: Twenty-two studies met the inclusion criteria. Most studies reported significant motor impairments across various domains, including balance, manual dexterity, and coordination. However, there was substantial variability in the severity of motor deficits and in the assessment tools used. Methodological heterogeneity limited direct comparison across studies. Conclusions: Motor impairments are common in autistic children and adolescents; however, current assessment tools show limitations and require adaptations. The findings underscore the need for autism-specific motor assessments to improve diagnostic accuracy and guide personalized interventions. Full article

(This article belongs to the Special Issue Advances in the Diagnosis and Management of Neuropsychiatric Disorders—2nd Edition)

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17 pages, 1523 KiB

Open AccessArticle

AI in Fracture Detection: A Cross-Disciplinary Analysis of Physician Acceptance Using the UTAUT Model

by Martin Breitwieser, Stephan Zirknitzer, Karolina Poslusny, Thomas Freude, Julia Scholsching, Karl Bodenschatz, Anton Wagner, Klaus Hergan, Matthias Schaffert, Roman Metzger and Patrick Marko

Diagnostics 2025, 15(16), 2117; https://doi.org/10.3390/diagnostics15162117 - 21 Aug 2025

Abstract

Background/Objectives: Artificial intelligence (AI) tools for fracture detection in radiographs are increasingly approved for clinical use but remain underutilized. Understanding physician attitudes before implementation is essential for successful integration into emergency care workflows. This study investigates the acceptance of an AI-based fracture [...] Read more.

Background/Objectives: Artificial intelligence (AI) tools for fracture detection in radiographs are increasingly approved for clinical use but remain underutilized. Understanding physician attitudes before implementation is essential for successful integration into emergency care workflows. This study investigates the acceptance of an AI-based fracture detection tool among physicians in emergency care settings, using the Unified Theory of Acceptance and Use of Technology (UTAUT) model. Methods: A cross-sectional, pre-implementation survey was conducted among 92 physicians across three hospitals participating in the SMART Fracture Trial (ClinicalTrials.gov: NCT06754137). The questionnaire assessed the four core UTAUT constructs—performance expectancy (PE), effort expectancy (EE), social influence (SI), facilitating conditions (FC)—and additional constructs such as attitude toward technology (AT), diagnostic confidence (DC), and workflow efficiency (WE). Responses were collected on a five-point Likert scale. Structural equation modeling (SEM) and confirmatory factor analysis (CFA) were performed to assess predictors of behavioral intention (BI). Results: PE was the strongest predictor of BI (β = 0.5882, p < 0.001), followed by SI (β = 0.391, p < 0.001), FC (β = 0.263, p < 0.001), and EE (β = 0.202, p = 0.001). These constructs explained a substantial proportion of variance in BI. WE received the lowest ratings, while internal consistency for SI and BI was weak. Moderator analyses showed prior AI experience improved EE, whereas more experienced physicians were more skeptical regarding WE and DC. However, none of the moderators significantly influenced BI. Conclusions: Physicians’ intention to use AI fracture detection is primarily influenced by perceived usefulness and ease of use. Implementation strategies should focus on intuitive design, targeted training, and clear communication of clinical benefits. Further research should evaluate post-implementation usage and user satisfaction. Full article

(This article belongs to the Special Issue Information-Driven Computer-Aided Diagnosis and Decision Support System)

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8 pages, 746 KiB

Open AccessCommunication

Exploring Laser-Induced Plasma Spectroscopy for Skin Cancer Patients: A Preliminary Study

by Dimitrios Sgouros, Emmanouil Karampinis, Melpomeni Theofili, Georgia Pappa, Panagiotis Theofilis, Sofia Theotokoglou, Anna Syrmali and Alexander Katoulis

Diagnostics 2025, 15(16), 2116; https://doi.org/10.3390/diagnostics15162116 - 21 Aug 2025

Abstract

Skin cancer is the most frequently diagnosed form of cancer worldwide. Diagnostic uncertainty can arise when macroscopic or dermoscopic evaluations do not clearly differentiate between benign and malignant lesions. Laser-induced plasma spectroscopy (LIPS), traditionally used in fields like materials science and environmental analysis, [...] Read more.

Skin cancer is the most frequently diagnosed form of cancer worldwide. Diagnostic uncertainty can arise when macroscopic or dermoscopic evaluations do not clearly differentiate between benign and malignant lesions. Laser-induced plasma spectroscopy (LIPS), traditionally used in fields like materials science and environmental analysis, has recently gained attention for its applications in human tissue assessment. LIPS works by generating a (micro)plasma when a laser interacts with tissue, producing element-specific light emissions that can be analyzed in real time. In this study, we explored the potential of LIPS to differentiate between benign and malignant skin lesions using the Spectra-Scope^® Score (SSS). Our results revealed a clear distinction: benign lesions showed a median SSS of 1.7, while suspicious and malignant lesions had a significantly higher median score of 8.1 (p < 0.001). Receiver operating characteristic (ROC) curve analysis demonstrated strong diagnostic performance, with an area under the curve (AUC) of 0.82 (p < 0.001). The findings of this preliminary study support the high accuracy of LIPS in identifying malignancy and underscore its promise as a non-invasive, real-time diagnostic aid. Integrating SSS into clinical workflows could enhance the early detection of skin cancer and reduce reliance on invasive diagnostic procedures. However, further validation is needed to fully establish its role in routine dermatological practice. Full article

(This article belongs to the Special Issue Noninvasive Diagnosis in Dermatology)

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20 pages, 557 KiB

Open AccessReview

Prognostic Role of L1CAM in Endometrial Cancer

by Mousa Mobarki

Diagnostics 2025, 15(16), 2115; https://doi.org/10.3390/diagnostics15162115 - 21 Aug 2025

Abstract

The L1 molecule is a cell adhesion molecule (L1CAM) that was originally implicated in neuronal development. In recent years, studies of several large cohorts of patients with endometrial cancer have revealed that L1CAM acts as a poor prognostic factor, in most cases independent [...] Read more.

The L1 molecule is a cell adhesion molecule (L1CAM) that was originally implicated in neuronal development. In recent years, studies of several large cohorts of patients with endometrial cancer have revealed that L1CAM acts as a poor prognostic factor, in most cases independent of other parameters. It seems to be an important factor, especially in the non-specific molecular profile subgroup (p53 normal expression, MMR proficient, POLE not mutated) of endometrial cancer, and a factor predictive of the response to chemotherapy. This review aims to gather most of the current knowledge regarding this promising prognostic factor. Full article

(This article belongs to the Special Issue Biomarkers of Gynecological Cancers)

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14 pages, 1733 KiB

Open AccessArticle

Genotype Frequency of HLA-B*58:01 and Its Association with Paraclinical Characteristics and PSORS1C1 rs9263726 in Gout Patients

by Hien Thu Nguyen, Ha Thi Bui, Yen Thi Thu Hoang, My Ha Hoang, Manh Duc Ngo, Mai Hoang Nguyen, Thuy Thi Thanh Nguyen, Nhuan Tien Ngo and Quang Viet Nguyen

Diagnostics 2025, 15(16), 2114; https://doi.org/10.3390/diagnostics15162114 - 21 Aug 2025

Abstract

Background/Objectives: The HLA-B*58:01 allele is strongly linked to severe cutaneous adverse reactions (SCARs) during allopurinol treatment, and it has been associated with the A allele of PSORS1C1 rs9263726 (G>A). Paraclinical characteristics of gout are indicative of associated comorbid conditions. This study investigated [...] Read more.

Background/Objectives: The HLA-B*58:01 allele is strongly linked to severe cutaneous adverse reactions (SCARs) during allopurinol treatment, and it has been associated with the A allele of PSORS1C1 rs9263726 (G>A). Paraclinical characteristics of gout are indicative of associated comorbid conditions. This study investigated the genotype frequency of HLA-B*58:01 and its association with paraclinical characteristics and PSORS1C1 rs9263726 in gout patients from Northeast Vietnam. Methods: A total of 133 unrelated gout patients were randomly recruited by the clinician. BioEdit sequence alignment editor version 7.2.5 software (Raleigh, Raleigh, NC, USA) was used for the analysis of nucleotide sequence data of HLA-B gene alleles from the IPD-IMGT/HLA Database, which showed that the HLA-B*58:01 allele can be distinguished from reference and other alleles by specific nucleotide positions: 387C, 379C, 368A, 355A, and 353T (in exon 3); and 319C, 285G, and 209A (in exon 2). HLA-B*58:01 and PSORS1C1 rs9263726 genotypes were identified using Sanger sequencing of PCR products, analyzed with BioEdit software, and verified using the NCBI dbVar database. Statistical analyses were performed using SPSS version 25.0. Results: Our study revealed a significant age difference between male and female gout patients (p < 0.001). Male gout patients had an average age of 51.44 ± 14.59 years, whereas female gout patients were notably older, with an average age of 70.33 ± 10.64 years. Positive correlations were observed between platelet count, serum creatinine, and uric acid levels (r = 0.174, p = 0.045; r = 0.195, p = 0.025) in male gout patients, while only high-density lipoprotein cholesterol showed a statistically significant negative correlation with uric acid levels (r = −0.885, p = 0.002) in female patients. The HLA-B*58:01 allele frequency among study subjects was 6.02%, with 12.03% being heterozygous individuals (*X/HLA-B*58:01, N = 16). The HLA-B*58:01 allele was not detected in female gout patients. White blood cell counts were significantly higher in male gout patients with the *X/HLA-B*58:01 genotype compared to those with the *X/*X genotype (p = 0.018). The A allele frequency of PSORS1C1 rs9263726 was 7.89%, and the heterozygous mutant genotype PSORS1C1 GA had a frequency of 15.79% (N = 21). Among the *X/*58:01 carriers, 4.51% had the GG genotype, and 7.52% had the GA genotype at PSORS1C1 rs9263726. Conclusions: Our study showed that the HLA-B*58:01 allele was not detected in female gout patients. White blood cell counts differed significantly between the *X/HLA-B*58:01 and *X/*X groups in male gout patients. The A allele of PSORS1C1 rs9263726 was not consistently associated with HLA-B*58:01 and was not a reliable marker for its detection in this study population. Full article

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

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15 pages, 2493 KiB

Open AccessArticle

The Utility of Intravoxel Incoherent Motion Metrics in Assessing Disability in Relapsing–Remitting Multiple Sclerosis

by Othman I. Alomair, Sami A. Alghamdi, Abdullah H. Abujamea, Salman Aljarallah, Nuha M. Alkhawajah, Mohammed S. Alshuhri, Yazeed I. Alashban and Nyoman D. Kurniawan

Diagnostics 2025, 15(16), 2113; https://doi.org/10.3390/diagnostics15162113 - 21 Aug 2025

Abstract

Background/Objectives: Quantitative intravoxel incoherent motion (IVIM) imaging, incorporating both diffusion- and perfusion-derived metrics, offers a promising non-invasive approach for assessing tissue microstructure and clinical disability in multiple sclerosis (MS). This study aimed to investigate the correlation and predictive values of the IVIM [...] Read more.

Background/Objectives: Quantitative intravoxel incoherent motion (IVIM) imaging, incorporating both diffusion- and perfusion-derived metrics, offers a promising non-invasive approach for assessing tissue microstructure and clinical disability in multiple sclerosis (MS). This study aimed to investigate the correlation and predictive values of the IVIM apparent diffusion coefficient (ADC), true diffusion coefficient (D), and perfusion-derived pseudo-diffusion coefficient (D*) and perfusion fraction (f) parameters with disability status, measured using the Expanded Disability Status Scale (EDSS), in relapsing–remitting MS patients. Methods: This cross-sectional study retrospectively analyzed MRI data from 197 MS patients. Quantitative IVIM parameters were extracted from scans obtained using a 1.5 T MRI scanner. Clinical data were also obtained, including age, disease duration, number of relapses, disease-modifying therapy (DMT) status, and need for mobility assistance. Bivariate analyses were conducted to compare mean values across subgroups. Pearson correlation was used to examine associations between EDSS score and imaging/clinical variables. Multiple linear regression was applied to identify independent predictors of EDSS score. Results: The bivariate analyses revealed that ADC, D, D*, and EDSS values were higher in patients over 50 years old, those with a longer disease duration, and those who required mobility assistance. f was higher in females and DMT-treated patients, but it had no effect on EDSS score. Patients with longer disease duration and limited mobility had a higher number of MS lesions and relapses. EDSS score exhibited positive Pearson correlations with ADC, D, D*, the number of MS lesions, and the number of relapses (p-value < 0.001). In the multivariate regression analysis, only the number of MS lesions and relapses emerged as independent predictors of EDSS score (p-value < 0.001). Other variables, including ADC, D, D*, f, age, and disease duration, were not independently associated with EDSS score (p-value > 0.05). Conclusions: This study demonstrates the utility of IVIM parameters in detecting microstructural alterations associated with MS impairment. Despite relapse frequency and lesion count being the strongest predictors of EDSS score, IVIM metrics showed meaningful clinical correlations. The findings support combining IVIM biomarkers with clinical data for better disability assessment. Full article

(This article belongs to the Special Issue Neurological Diseases: Biomarkers, Diagnosis and Prognosis)

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13 pages, 1423 KiB

Open AccessArticle

Quantifying “Medical Renal Disease”: A Pediatric Pilot Study Using Ultrasound Radiomics for Differentiating Acute Kidney Injury and Chronic Kidney Disease

by Laura De Leon-Benedetti, Laith R. Sultan, Hansel J. Otero, Tatiana Morales-Tisnés, Joya Sims, Kate Fitzpatrick, Julie C. Fitzgerald, Susan Furth, Benjamin L. Laskin and Bernarda Viteri

Diagnostics 2025, 15(16), 2112; https://doi.org/10.3390/diagnostics15162112 - 21 Aug 2025

Abstract

Background: Differentiating acute kidney injury (AKI) from chronic kidney disease (CKD) in children remains a critical unmet need due to the limitations of current clinical and biochemical markers. Conventional ultrasound lacks the sensitivity to discern subtle parenchymal alterations. This study explores the application [...] Read more.

Background: Differentiating acute kidney injury (AKI) from chronic kidney disease (CKD) in children remains a critical unmet need due to the limitations of current clinical and biochemical markers. Conventional ultrasound lacks the sensitivity to discern subtle parenchymal alterations. This study explores the application of ultrasound radiomics—a novel, non-invasive, and quantitative image analysis method—for distinguishing AKI from CKD in pediatric patients. Methods: In this retrospective cross-sectional pilot study, kidney ultrasound images were obtained from 31 pediatric subjects: 8 with oliguric AKI, 14 with CKD, and 9 healthy controls. Renal parenchyma was manually segmented, and 124 advanced texture features were extracted using the open-source ©PyFeats. Features encompassed multiple categories (e.g., GLCM, GLSZM, WP). Statistical comparisons evaluated intergroup differences. Principal Component Analysis identified the top 10 most informative features, which were used to train supervised machine learning models. Model performance used five-fold cross-validation. Results: Radiomic analysis revealed significant intergroup differences (p < 0.05). CKD cases exhibited increased echogenicity and heterogeneity, particularly in GLCM and GLSZM features, consistent with chronic fibrosis. AKI cases displayed more homogeneous texture, likely reflecting edema or acute inflammation. While echogenicity separated diseased from healthy kidneys, it lacked specificity between AKI and CKD. Among ML models, XGBoost achieved the highest macro-averaged F1 score (0.90), followed closely by SVM and Random Forest, demonstrating strong classification performance. Conclusions: Radiomics-based texture analysis of grayscale ultrasound images effectively differentiated AKI from CKD in this pilot study, offering a promising, non-invasive imaging biomarker for pediatric kidney disease. These preliminary findings justify prospective validation in larger, multicenter cohorts. Full article

(This article belongs to the Special Issue Advanced Ultrasound Techniques in Diagnosis)

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23 pages, 1470 KiB

Open AccessSystematic Review

Radar-Based Detection of Obstructive Sleep Apnea: A Systematic Review and Network Meta-Analysis of Diagnostic Accuracy Across Frequency Bands

by Nguyen Binh Minh Hoang Tran, Thi Quynh Trang Tran, Cheng-Yu Tsai and Jiunn-Horng Kang

Diagnostics 2025, 15(16), 2111; https://doi.org/10.3390/diagnostics15162111 - 21 Aug 2025

Abstract

Background: Obstructive sleep apnea (OSA) is one of the most prevalent yet underdiagnosed sleep disorders. We evaluated the diagnostic accuracy of radar-based systems and ranked frequency bands for the non-contact detection of OSA. Methods: A systematic search of six databases was [...] Read more.

Background: Obstructive sleep apnea (OSA) is one of the most prevalent yet underdiagnosed sleep disorders. We evaluated the diagnostic accuracy of radar-based systems and ranked frequency bands for the non-contact detection of OSA. Methods: A systematic search of six databases was conducted from inception to May 23, 2025. Eligible studies included adults assessed for OSA using radar-based systems compared to polysomnography. Hierarchical SROC modeling, threshold-based meta-analyses, and frequency band-stratified network meta-analysis were performed. Certainty of evidence was assessed using GRADE. The PROSPERO registration number is CRD420251059236. Results: We identified 23,906 records and included 20 studies involving 1540 participants. The primary outcome included a high area under the curve (AUC) of approximately 0.91, an optimal apnea–hypopnea index (AHI) cutoff of ≥22 with a sensitivity of 0.8155 (95% confidence interval (CI): 0.6862–0.8993) and specificity of 0.8819 (95% CI: 0.7799–0.9402). At an AHI threshold of 30, X-band dual radar performed the best, followed by K-band, which yielded significant but more variable results. C-bands consistently showed lower diagnostic values. Conclusions: This study provides a novel radar band comparison for OSA detection, highlighting clinically relevant thresholds. Key limitations are indirect comparisons and limited, varied samples. Radar-based systems show high sensitivity for OSA detection, optimized by frequency, radar type, artificial intelligence support, and dual sensors within 0.2–1.5 m. Future work should expand the frequency analysis, standardize AHI thresholds, and validate results in specific subgroups. Full article

(This article belongs to the Special Issue Advances in Sleep and Respiratory Medicine)

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16 pages, 1167 KiB

Open AccessArticle

Association of TCF7L2 rs7903146 (C/T) Polymorphism with Type 2 Diabetes Mellitus in a Chinese Population: Clinical Characteristics and Ethnic Context

by Yung-Chuan Lu, Teng-Hung Yu, Chin-Feng Hsuan, Chia-Chang Hsu, Wei-Chin Hung, Chao-Ping Wang, Wei-Hua Tang, Min-Chih Cheng, Fu-Mei Chung, Yau-Jiunn Lee and Thung-Lip Lee

Diagnostics 2025, 15(16), 2110; https://doi.org/10.3390/diagnostics15162110 - 21 Aug 2025

Abstract

Background/Objectives: The transcription factor 7-like 2 (TCF7L2) rs7903146 polymorphism has been strongly associated with type 2 diabetes mellitus (T2DM) in various populations; however, its impact on different ethnic groups is not fully understood. Given the distinct minor allele frequency in [...] Read more.

Background/Objectives: The transcription factor 7-like 2 (TCF7L2) rs7903146 polymorphism has been strongly associated with type 2 diabetes mellitus (T2DM) in various populations; however, its impact on different ethnic groups is not fully understood. Given the distinct minor allele frequency in Chinese populations, this study aimed to analyze the association of rs7903146 with the risk of T2DM in a Han Chinese cohort and its relationship with relevant clinical parameters. Methods: We conducted a case–control study including 600 patients with type 2 diabetes mellitus (T2DM) and 511 sex-matched non-diabetic controls of Han Chinese descent. The TCF7L2 rs7903146 (C/T) polymorphism was genotyped using a TaqMan™ SNP assay. Clinical parameters, including body mass index (BMI), fasting plasma glucose, hemoglobin A1c, lipid profile, and high-sensitivity C-reactive protein (hs-CRP), were compared between genotypes. Logistic regression analyses were performed under a dominant genetic model (CT/TT vs. CC), adjusting for age, sex, systolic and diastolic blood pressure, BMI, and smoking status. Subgroup analyses were conducted by sex, BMI category, age at diagnosis, and family history of T2DM. Given the exploratory nature of this study and the low frequency of the TT genotype, no formal correction for multiple testing was applied. Results: Frequencies of the CT and TT genotypes were higher in the diabetic group (p = 0.045) and were significantly associated with an increased risk of T2DM under a dominant genetic model (adjusted OR = 2.24, p = 0.025). Individuals with CT/TT genotypes had elevated fasting glucose and hs-CRP levels; these genotypes were also linked to higher BMI in the female T2DM patients. The T allele frequency varied across ethnic groups, being lowest in East Asians and highest in Latin (Brazilian/mixed ancestry) populations. Mechanistically, the T allele may contribute to T2DM via altered TCF7L2 expression, impaired insulin secretion, inflammation, and metabolic dysregulation. Conclusions: The TCF7L2 rs7903146 T allele was associated with an increased risk of T2DM and higher fasting glucose and hs-CRP levels in this Han Chinese cohort. The CT/TT genotypes were also associated with higher BMI in the female T2DM patients. While the findings are consistent with the known effects of this variant in other populations, mechanistic hypotheses such as the involvement of inflammatory or metabolic pathways remain hypothetical and warrant further functional validation. Full article

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

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13 pages, 2979 KiB

Open AccessArticle

Predictive Value of ^99mTc DPD Bone SPECT/CT Uptake Ratio for Culture Results in Lower Limb Osteomyelitis

by Hyun Suk Shin and Min Bom Kim

Diagnostics 2025, 15(16), 2109; https://doi.org/10.3390/diagnostics15162109 - 21 Aug 2025

Abstract

Background/Objectives: The diagnosis of osteomyelitis is typically based on clinical suspI icion supported by imaging and lab findings. Various nuclear medicine imaging, including bone SPECT/CT, is emerging as an effective tool to guide the diagnosis of osteomyelitis. This study investigates whether the [...] Read more.

Background/Objectives: The diagnosis of osteomyelitis is typically based on clinical suspI icion supported by imaging and lab findings. Various nuclear medicine imaging, including bone SPECT/CT, is emerging as an effective tool to guide the diagnosis of osteomyelitis. This study investigates whether the preoperative ^99mTc DPD bone SPECT/CT uptake \ratio correlates with intraoperative tissue culture positivity in patients with suspected lower extremity osteomyelitis. Methods: We retrospectively reviewed 46 patients who underwent surgery for suspected osteomyelitis of the lower extremity between February 2020 and May 2025. Bone SPECT/CT was performed using ^99mTc DPD, and uptake values were measured using Syngo.via software. Lesion-to-Background Ratio (LBR) was calculated by comparing uptake in the lesion with the contralateral bone. Intraoperative culture was conducted at the region with high uptake in SPECT/CT. Results: Among the 46 patients who underwent surgery, 28 had positive tissue cultures, and 18 were negative. The mean LBR was significantly higher in culture-positive cases (14.5 ± 4.5) than in culture-negative cases (6.8 ± 8.0, p = 0.0002) Inflammatory markers (WBC, ANC, ESR, CRP) and the antibiotic-free interval before surgery did not significantly differ between groups or correlate with LBR. ROC analysis identified an LBR threshold of 9.44, yielding a sensitivity of 71.4% and specificity of 88.9% for predicting positive cultures (AUC = 0.81). Conclusions: ^99mTc DPD bone SPECT/CT uptake ratio may serve as a useful tool for the preoperative assessment of suspected lower extremity osteomyelitis, providing a more reliable prediction of intraoperative microbial culture results compared to serum inflammatory markers or the duration of antibiotic-free intervals. High tracer uptake may also be observed in various other conditions and thus should be interpreted in a multidisciplinary context in conjunction with other modalities. Full article

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

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