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Editor’s Choice Articles

Editor’s Choice articles are based on recommendations by the scientific editors of MDPI journals from around the world. Editors select a small number of articles recently published in the journal that they believe will be particularly interesting to readers, or important in the respective research area. The aim is to provide a snapshot of some of the most exciting work published in the various research areas of the journal.

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16 pages, 923 KB  
Article
Transcervical, Transabdominal and Transvaginal Chorionic Villus Sampling for Prenatal Diagnosis in Zagreb, Croatia: A Prospective Single-Operator Study on 5500 Cases
by Petra Podobnik, Tomislav Meštrović, Mario Podobnik, Ivan Bertović-Žunec, Igor Lončar, Kristian Kurdija, Dženis Jelčić, Zlata Srebreniković and Slava Podobnik-Šarkanji
Diagnostics 2025, 15(21), 2750; https://doi.org/10.3390/diagnostics15212750 - 30 Oct 2025
Viewed by 1112
Abstract
Background/Objectives: Chorionic villus sampling (CVS) is a pivotal diagnostic tool for early prenatal detection of chromosomal and genetic abnormalities; however, the safety and diagnostic efficacy of different CVS approaches remain a subject of clinical interest. This monocentric study compares transcervical (TC-CVS), transabdominal [...] Read more.
Background/Objectives: Chorionic villus sampling (CVS) is a pivotal diagnostic tool for early prenatal detection of chromosomal and genetic abnormalities; however, the safety and diagnostic efficacy of different CVS approaches remain a subject of clinical interest. This monocentric study compares transcervical (TC-CVS), transabdominal (TA-CVS) and transvaginal (TV-CVS) techniques, focusing on procedure-related fetal loss and diagnostic yield. Methods: In this 15-year, single-operator prospective study, a total of 5500 women underwent CVS between 10 and 14 weeks of gestation at a single center. Sampling was performed via TA-CVS (n = 4500), TC-CVS (n = 850), or TV-CVS (n = 150). Outcomes assessed included fetal loss rates, sample adequacy, early complications and hemodynamic changes measured by Doppler ultrasound. A p-value < 0.05 (two-tailed) was considered statistically significant. Results: Spontaneous abortion rates were significantly lower following TA-CVS (0.18%; 8/4500) compared to TC-CVS (0.6%; 5/850) and TV-CVS (1.3%; 2/150) (χ2 = 24.56, p < 0.001). Post hoc pairwise analysis showed significantly lower fetal loss in TA-CVS compared to TC-CVS, but not between TA-CVS and TV-CVS. Cytogenetic abnormalities were detected in 220 cases (4.0%), and clinically significant copy number variants (CNVs) were confirmed in fetuses with major structural malformations. Five-year follow-up showed no diagnosed intellectual disability among assessed children. Optimal tissue weight (10–20 mg) was more frequent with TA-CVS (66.7%) than TC-CVS (35.3%) or TV-CVS (36.7%) (χ2 = 350.92, p < 0.001). In a Doppler subset (n = 400), uterine, spiral, and interplacental artery PI changes were non-significant; the umbilical (p = 0.032) and middle cerebral arteries (p < 0.001) showed transient PI reductions after sampling. Conclusions: Transabdominal CVS demonstrated the most favorable balance of safety and diagnostic quality, suggesting it should be the preferred first-line technique in early prenatal diagnosis. Standardized technique and operator training remain critical to optimize outcomes. Full article
(This article belongs to the Special Issue Diagnosis and Prognosis of Gynecological and Obstetric Diseases)
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13 pages, 4332 KB  
Article
Brain Perfusion Scintigraphy in the Diagnostic Toolbox for the Confirmation of Brain Death: Practical Aspects and Examination Protocol
by Albrecht Günther, Anne Gunkel, Christian Geis, Dirk Brämer, Martin Brauer, Claus Doerfel, Michael Fritzenwanger, Martin Freesmeyer, Thomas Winkens, Robert Drescher and Anke Werner
Diagnostics 2025, 15(21), 2734; https://doi.org/10.3390/diagnostics15212734 - 28 Oct 2025
Viewed by 683
Abstract
Background: In addition to clinical examinations, confirmatory investigations are frequently performed to determine brain death (BD). Among other perfusion tests, brain perfusion scintigraphy (BPS) has been shown to be a reliable tool for the detection of brain circulatory arrest, particularly in cases with [...] Read more.
Background: In addition to clinical examinations, confirmatory investigations are frequently performed to determine brain death (BD). Among other perfusion tests, brain perfusion scintigraphy (BPS) has been shown to be a reliable tool for the detection of brain circulatory arrest, particularly in cases with inconclusive clinical status or potential pharmacological interactions. Methods: Evaluation for brain death included standardized clinical examinations by two experienced neuro-intensive medicine specialists, followed by ancillary brain perfusion tests. BPS with the lipophilic tracer 99mTc-hexamethylpropyleneamine oxime (HMPAO) was performed according to a standardized protocol. Imaging results, additional confirmatory test results, as well as clinical parameters were prospectively recorded. Results: BPS was performed in 30 patients (18 male, 12 female; median age 55.5 years, range 0.1–79.8 years). Eight patients underwent decompressive craniectomy (DC) prior to BD evaluation, three patients were supported by veno-arterial extracorporeal membrane oxygenation (vaECMO), and one patient by a left ventricular assist device (LVAD). The median interval between the initial brain-damaging event and BPS was 4.0 days (range 1–18 days). BPS demonstrated brain perfusion cessation in all patients. A concomitant single-photon emission computed tomography (SPECT) was required in one patient. There were no technical failures requiring a re-examination. Conclusions: BPS is a feasible, safe, and technically robust confirmatory test in BD diagnosis. BPS yielded unambiguous results, particularly in cases with inconclusive results of other ancillary tests, in neonates, young children and patients after DC. It is applicable to patients supported by LVAD and vaECMO. Full article
(This article belongs to the Special Issue Neurological Disorders: Diagnosis and Management)
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11 pages, 649 KB  
Review
A Narrative Review of Photon-Counting CT and Radiomics in Cardiothoracic Imaging: A Promising Match?
by Salvatore Claudio Fanni, Ilaria Ambrosini, Francesca Pia Caputo, Maria Emanuela Cuibari, Domitilla Deri, Alessio Guarracino, Camilla Guidi, Vincenzo Uggenti, Giancarlo Varanini, Emanuele Neri, Dania Cioni, Mariano Scaglione and Salvatore Masala
Diagnostics 2025, 15(20), 2631; https://doi.org/10.3390/diagnostics15202631 - 18 Oct 2025
Viewed by 1556
Abstract
Photon-counting computed tomography (PCCT) represents a major technological innovation compared to conventional CT, offering improved spatial resolution, reduced electronic noise, and intrinsic spectral capabilities. These advances open new perspectives for synergy with radiomics, a field that extracts quantitative features from medical images. The [...] Read more.
Photon-counting computed tomography (PCCT) represents a major technological innovation compared to conventional CT, offering improved spatial resolution, reduced electronic noise, and intrinsic spectral capabilities. These advances open new perspectives for synergy with radiomics, a field that extracts quantitative features from medical images. The ability of PCCT to generate multiple types of datasets, including high-resolution conventional images, iodine maps, and virtual monoenergetic reconstructions, increases the richness of extractable features and potentially enhances radiomics performance. This narrative review investigates the current evidence on the interplay between PCCT and radiomics in cardiothoracic imaging. Phantom studies demonstrate reduced reproducibility between PCCT and conventional CT systems, while intra-scanner repeatability remains high. Nonetheless, PCCT introduces additional complexity, as reconstruction parameters and acquisition settings significantly may affect feature stability. In chest imaging, early studies suggest that PCCT-derived features may improve nodule characterization, but existing machine learning models, such as those applied to interstitial lung disease, may require recalibration to accommodate the new imaging paradigm. In cardiac imaging, PCCT has shown particular promise: radiomic features extracted from myocardial and epicardial tissues can provide additional diagnostic insights, while spectral reconstructions improve plaque characterization. Proof-of-concept studies already suggest that PCCT radiomics can capture myocardial aging patterns and discriminate high-risk coronary plaques. In conclusion, evidence supports a growing synergy between PCCT and radiomics, with applications already emerging in both lung and cardiac imaging. By enhancing the reproducibility and richness of quantitative features, PCCT may significantly broaden the clinical potential of radiomics in computed tomography. Full article
(This article belongs to the Special Issue Cardiothoracic Imaging: Recent Techniques and Applications in Diagnostics, Third Edition)
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23 pages, 3084 KB  
Systematic Review
Patterns of Lateral Lymph Node Involvement by Neck Level in cNIb Differentiated Thyroid Carcinoma: A Systematic Review and Meta-Analysis
by Dana M. Hartl, Karthik N. Rao, Andrés Coca Pelaz, Alessandra Rinaldo, Mark E. Zafereo, Greg W. Randolph, Iain J. Nixon, Marc Hamoir, K. Thomas Robbins, Luiz P. Kowalski, Pia Pace Asciak, Badr Soudi, Juan P. Rodrigo and Alfio Ferlito
Diagnostics 2025, 15(20), 2613; https://doi.org/10.3390/diagnostics15202613 - 16 Oct 2025
Viewed by 1016
Abstract
Background/Objectives: The optimal extent of lateral lymph node dissection in cN1b differentiated thyroid cancer remains controversial. This systematic review aimed to assess the frequency of lymph node involvement across neck levels I to V. Materials and Methods: A systematic review was conducted following [...] Read more.
Background/Objectives: The optimal extent of lateral lymph node dissection in cN1b differentiated thyroid cancer remains controversial. This systematic review aimed to assess the frequency of lymph node involvement across neck levels I to V. Materials and Methods: A systematic review was conducted following PRISMA guidelines. PubMed was searched for studies on lateral neck dissection in differentiated thyroid cancer. Included studies reported level-specified metastatic rates. Data on patient numbers and metastatic events were extracted. A random-effects meta-analysis with Freeman–Tukey double arcsine transformation was performed for each neck level to calculate pooled prevalence proportions and 95% confidence intervals. Heterogeneity was assessed using the I2 statistic. Results: Meta-analysis of 57 studies revealed that level III (68%, 95% CI: 63–73) and level IV (66%, 95% CI: 61–70) had the highest metastatic prevalence, followed by level IIA (46%, 95% CI: 37–56). Level V demonstrated an overall prevalence of 22% (95% CI: 18–26), with sublevel VB (19%, 95% CI: 11–28) significantly higher than VA (4%, 95% CI: 1–9). Level I (6%, 95% CI: 2–11) and sublevel IIB (14%, 95% CI: 9–20) showed the lowest risk. Significant heterogeneity (I2 71–94%) was observed across all levels. Conclusions: Our findings support sparing level I, and sublevels IIB and VA during lateral neck dissection. Current guidelines recommend systematic dissection of IIA, III, IV, and VB, although VB involvement was found to be only 19% in our study. Future personalization of the extent of neck dissection, based on individual risk factors, may be key to optimizing oncologic and functional outcomes. Full article
(This article belongs to the Special Issue Advances in Molecular Pathology and Imaging for Precision Diagnosis and Treatment of Tumors)
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16 pages, 2562 KB  
Article
Skeletal Muscle 31P Magnetic Resonance Spectroscopy Study of Patients with Parkinson’s Disease: Energy Metabolism and Exercise Performance
by Jimin Ren, Neha Patel, Talon Johnson, Ross Querry and Staci Shearin
Diagnostics 2025, 15(20), 2573; https://doi.org/10.3390/diagnostics15202573 - 13 Oct 2025
Viewed by 1231
Abstract
Background/Objectives: Parkinson’s disease (PD) is a progressive neurodegenerative disorder characterized by motor symptoms such as tremor, bradykinesia, rigidity, and postural instability. In the absence of disease-modifying therapies, exercise remains one of the few interventions shown to effectively reduce fall risk and improve mobility. [...] Read more.
Background/Objectives: Parkinson’s disease (PD) is a progressive neurodegenerative disorder characterized by motor symptoms such as tremor, bradykinesia, rigidity, and postural instability. In the absence of disease-modifying therapies, exercise remains one of the few interventions shown to effectively reduce fall risk and improve mobility. However, it remains unclear whether skeletal muscle ATP metabolism is impaired in PD, and whether the benefits of exercise arise primarily from improvements in central motor control or peripheral metabolic adaptations. Methods: Fourteen individuals with PD and five healthy controls underwent kinetic 31P Magnetic Resonance Spectroscopy (MRS) to assess resting muscle ATP synthesis and dynamic 31P MRS during in-magnet exercise to evaluate oxidative phosphorylation in active muscle. Results: At rest, ATP synthesis rates mediated by ATPase and creatine kinase (CK) were on average 46 ± 23% and 24 ± 9% lower, respectively, in the PD group compared to controls (p < 0.005), suggesting peripheral mitochondrial dysfunction. During plantar flexion exercise at 15% of lean body mass, range of motion (ROM) was reduced by 22 ± 5% in PD participants (p = 0.01). Despite this, post-exercise recovery of phosphocreatine (PCr) and inorganic phosphate (Pi) was similar between groups. Recovery time constants for PCr and Pi correlated with participants’ total weekly exercise time, indicating a metabolic adaptation to regular physical activity. Modest ROM improvements were observed in both groups following calf-raise exercise training. Conclusions: Reduced skeletal muscle ATP metabolism may contribute to peripheral weakness in PD. Regular exercise appears to promote adaptive metabolic responses, highlighting the need for therapeutic strategies targeting both central and peripheral components of PD. Full article
(This article belongs to the Special Issue Applications of Quantitative MRI in Neurodegenerative Disorders and Peripheral Neuropathies)
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16 pages, 3586 KB  
Article
Ultrasound Risk Stratification of Autonomously Functioning Thyroid Nodules: Cine Loop Video Sequences Versus Static Image Captures
by Larissa Rosenbaum, Martin Freesmeyer, Tabea Nikola Schmidt, Christian Kühnel, Falk Gühne and Philipp Seifert
Diagnostics 2025, 15(19), 2525; https://doi.org/10.3390/diagnostics15192525 - 6 Oct 2025
Viewed by 917
Abstract
Background/Objectives: Autonomously functioning thyroid nodules (AFTNs) are most frequently diagnosed as benign. However, they show high ratings in ultrasound (US) risk stratification systems (RSSs) that utilize the current clinical standard methodology of conventional static image capture (SIC) documentation. The objective of this [...] Read more.
Background/Objectives: Autonomously functioning thyroid nodules (AFTNs) are most frequently diagnosed as benign. However, they show high ratings in ultrasound (US) risk stratification systems (RSSs) that utilize the current clinical standard methodology of conventional static image capture (SIC) documentation. The objective of this study was to evaluate the RSS ratings and respective fine needle cytology (FNC) recommendations of cine loop (CL) video sequences in comparison to SIC. Methods: 407 patients with 424 AFTNs were enrolled in this unicentric, retrospective study between 11/2015 and 11/2023. Recorded US CL and SIC were analyzed lesion-wise and compared regarding US features, Kwak and ACR TIRADS, ACR FNC recommendations, as well as assessment difficulties and artifacts. Statistical analyses were conducted using the Chi2 test and Spearman’s correlation coefficient in SPSS software. p-values < 0.05 were considered significant. Results: Strong to very strong correlations were observed for all US features, RSS ratings, and ACR FNC recommendations (Spearman’s correlation: each p < 0.001), comparing CL and SIC. For >60% of the AFTNs, ACR FNC recommendation was given. Kwak TIRADS were more consistent with the benign nature of AFTNs than the ACR ratings. CL captured significantly more “echogenic foci” than SIC (Chi2: p < 0.001). Artifacts (poor image quality, acoustic shadowing, sagittal incompletely displayed AFTN) were significantly more common on CL, affecting ~40% of AFTNs, compared to ~15% on SIC (Chi2: each p < 0.05). Weak correlation was observed for assessment confidence between CL and SIC, with SIC outperforming CL (Spearman’s correlation: each p < 0.001). Conclusions: A strong correlation was identified between CL and SIC in terms of RSS ratings and ACR FNC recommendations. Kwak is a superior representative of the benign character of AFTNs than ACR. However, CL provided more detailed information while being associated with decreased observer confidence and more artifacts. Specific operator training and technical improvements, including AI implementation, could improve image quality in future. Full article
(This article belongs to the Section Medical Imaging and Theranostics)
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24 pages, 334 KB  
Review
From Heart to Abdominal Aorta: Integrating Multi-Modal Cardiac Imaging Derived Haemodynamic Biomarkers for Abdominal Aortic Aneurysm Risk Stratification, Surveillance, Pre-Operative Assessment and Therapeutic Decision-Making
by Rafic Ramses and Obiekezie Agu
Diagnostics 2025, 15(19), 2497; https://doi.org/10.3390/diagnostics15192497 - 1 Oct 2025
Viewed by 1038
Abstract
Recent advances in cardiovascular imaging have revolutionized the assessment and management of abdominal aortic aneurysm (AAA) through the integration of sophisticated haemodynamic biomarkers. This comprehensive review evaluates the clinical utility and mechanistic significance of multiple biomarkers in AAA pathogenesis, progression, and treatment outcomes. [...] Read more.
Recent advances in cardiovascular imaging have revolutionized the assessment and management of abdominal aortic aneurysm (AAA) through the integration of sophisticated haemodynamic biomarkers. This comprehensive review evaluates the clinical utility and mechanistic significance of multiple biomarkers in AAA pathogenesis, progression, and treatment outcomes. Advanced cardiac imaging modalities, including four-dimensional magnetic resonance imaging (4D MRI), computational fluid dynamics (CFD), and specialized echocardiography, enable precise quantification of critical haemodynamic parameters. Wall shear stress (WSS) emerges as a fundamental biomarker, with values below 0.4 Pa indicating pathological conditions and increased risk for aneurysm progression. Time-averaged wall shear stress (TAWSS), typically maintaining values above 1.5 Pa in healthy arterial segments, provides crucial information about sustained haemodynamic forces affecting the vessel wall. The oscillatory shear index (OSI), ranging from 0 (unidirectional flow) to 0.5 (purely oscillatory flow), quantifies directional changes in WSS during cardiac cycles. In AAA, elevated OSI values between 0.3 and 0.4 correlate with disturbed flow patterns and accelerated disease progression. The relative residence time (RRT), combining TAWSS and OSI, identifies regions prone to thrombosis, with values exceeding 2–3 Pa−1 indicating increased risk. The endothelial cell activation potential (ECAP), calculated as OSI/TAWSS, serves as an integrated metric for endothelial dysfunction risk, with values above 0.2–0.3 Pa−1 suggesting increased inflammatory activity. Additional biomarkers include the volumetric perivascular characterization index (VPCI), which assesses vessel wall inflammation through perivascular tissue analysis, and pulse wave velocity (PWV), measuring arterial stiffness. Central aortic systolic pressure and the aortic augmentation index provide essential information about cardiovascular load and arterial compliance. Novel parameters such as particle residence time, flow stagnation, and recirculation zones offer detailed insights into local haemodynamics and potential complications. Implementation challenges include the need for specialized equipment, standardized protocols, and expertise in data interpretation. However, the potential for improved patient outcomes through more precise risk stratification and personalized treatment planning justifies continued development and validation of these advanced assessment tools. Full article
(This article belongs to the Special Issue Cardiovascular Diseases: Innovations in Diagnosis and Management)
12 pages, 704 KB  
Article
AI-Based 3D-Segmentation Quantifies Sarcopenia in Multiple Myeloma Patients
by Thuy-Duong Do, Tobias Nonnenmacher, Marieke Burghardt, Stefanie Zschäbitz, Marina Hajiyianni, Elias Karl Mai, Marc-Steffen Raab, Carsten Müller-Tidow, Hans-Ulrich Kauczor, Hartmut Goldschmidt and Ulrike Dapunt
Diagnostics 2025, 15(19), 2466; https://doi.org/10.3390/diagnostics15192466 - 26 Sep 2025
Viewed by 751
Abstract
Background: Sarcopenia is characterized by a loss of muscle mass and strength, resulting in functional limitations and an increased risk of falls, injuries and fractures. The aim of this study was to obtain detailed information on skeletal muscle changes in patients with multiple [...] Read more.
Background: Sarcopenia is characterized by a loss of muscle mass and strength, resulting in functional limitations and an increased risk of falls, injuries and fractures. The aim of this study was to obtain detailed information on skeletal muscle changes in patients with multiple myeloma (MM) during treatment. Methods: A total of 51 patients diagnosed with MM who had undergone whole-body low-dose computed tomography acquisition prior to induction therapy (T1) and post autologous stem cell transplantation (T2) were examined retrospectively. Total volume (TV), muscle volume (MV) and intramuscular adipose tissue volume (IMAT) of the autochthonous back muscles, the iliopsoas muscle and the gluteal muscles were evaluated on the basis of the resulting masks of the BOA tool with the fully automated combination of TotalSegmentator and a body composition analysis. An in-house trained artificial intelligence network was used to obtain a fully automated three-dimensional segmentation assessment. Results: Patients’ median age was 58 years (IQR 52–66), 38 were male and follow-up CT-scans were performed after a mean of 11.8 months (SD ± 3). Changes in MV and IMAT correlated significantly with Body-Mass-Index (BMI) (r = 0.7, p < 0.0001). Patients (n = 28) with a decrease in BMI (mean −2.2 kg/m2) during therapy lost MV (T1: 3419 cm3, IQR 3176–4000 cm3 vs. T2: 3226 cm3, IQR 3014–3662 cm3, p < 0.0001) whereas patients (n = 20) with an increased BMI (mean +1.4 kg/m2) showed an increase in IMAT (T1: 122 cm3, IQR 96.8–202.8 cm3 vs. T2: 145.5 cm3, IQR 115–248 cm3, p = 0.0002). Loss of MV varied between different muscle groups and was most prominent in the iliopsoas muscle (−9.8%) > gluteus maximus (−9.1%) > gluteus medius (−5.8%) > autochthonous back muscles (−4.3%) > gluteus minimus (−1.5%). Increase in IMAT in patients who gained weight was similar between muscle groups. Conclusions: The artificial intelligence-based three-dimensional segmentation process is a reliable and time-saving method to acquire in-depth information on sarcopenia in MM patients. Loss of MV and increase in IMAT were reliably detectable and associated with changes in BMI. Loss of MV was highest in muscles with more type 2 muscle fibers (fast-twitch, high energy) whereas muscles with predominantly type 1 fibers (slow-twitch, postural control) were less affected. This study provides valuable insight into muscle changes of MM patients during treatment, which might aid in tailoring exercise interventions more precisely to patients’ needs. Full article
(This article belongs to the Special Issue Advancements in the Diagnostics and Management of Musculoskeletal Diseases)
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15 pages, 1168 KB  
Article
Laboratory Validation of a Fully Automated Point-of-Care Device for High-Order Multiplexing Real-Time PCR Detection of Respiratory Pathogens
by Libby C. W. Li, Deborah M. S. Tai, Anita Yee, Nancy B. Y. Tsui, Parker Y. L. Tsang, Sunny L. H. Chu, Chui Ting Leung, Bernice K. W. Leung, Winston Wong, Firaol Tamiru Kebede, Pete Y. M. Leung, Teresa Chung, Cyril C. Y. Yip, Jonathan H. K. Chen, Rosana W. S. Poon, Kelvin K. W. To, Kwok-Yung Yuen, Manson Fok, Johnson Y. N. Lau and Lok Ting Lau
Diagnostics 2025, 15(19), 2445; https://doi.org/10.3390/diagnostics15192445 - 25 Sep 2025
Viewed by 1349
Abstract
Background/Objectives: We have previously reported the engineering of a point-of-care (POC) system that fully automates the procedures for nucleic acid extraction and multiplexed real-time RT-PCR, with a major advantage of high-level multiplexing. In this study, we applied and validated the system in [...] Read more.
Background/Objectives: We have previously reported the engineering of a point-of-care (POC) system that fully automates the procedures for nucleic acid extraction and multiplexed real-time RT-PCR, with a major advantage of high-level multiplexing. In this study, we applied and validated the system in a respiratory tract infection setting. Methods: An automatic nested real-time RT-PCR assay was developed (POCm). It was a 40-plex assay that simultaneously detected 39 epidemiologically important respiratory pathogens in 1.5 h in the POC system. The analytical and clinical performance was evaluated. Results: The analytical sensitivities of the POCm assay were comparable to those of its single-plex counterparts performed manually on a bench-top. The minimum detectable concentrations ranged from 53 copies/mL to 5.3 × 103 copies/mL for all pathogen targets except hCoV-NL63 (5.3 × 104 copies/mL). The quantitative performance was demonstrated by the linear correlations between Ct values and input concentrations for all pathogen targets, with 24 of them demonstrating coefficients of correlation (r) greater than 0.9. The POCm assay was subsequently evaluated in 283 clinical samples. A high level of agreement (98.2–100%) was achieved for pathogen detection results between POCm and standard diagnostic methods. The POCm result was also fully concordant with the result of another commercial POC multiplex platform. For positive clinical samples, pairwise Ct values measured by POCm closely correlated with those of the bench-top reference method (r = 0.70). The feasibility of mutation genotyping of the viral subtype was further demonstrated. Conclusions: This study demonstrated the practicality of POCm for routine testing in clinical laboratories. Further clinical trials are being conducted to evaluate the clinical performance of the system. Full article
(This article belongs to the Section Point-of-Care Diagnostics and Devices)
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17 pages, 4324 KB  
Article
Dysregulation of miRNAs in Sicilian Patients with Huntington’s Disease
by Michele Salemi, Francesca Antonia Schillaci, Maria Grazia Salluzzo, Giovanna Marchese, Giovanna Maria Ventola, Concetta Simona Perrotta, Vincenzo Di Stefano, Giuseppe Lanza and Raffaele Ferri
Diagnostics 2025, 15(19), 2454; https://doi.org/10.3390/diagnostics15192454 - 25 Sep 2025
Viewed by 696
Abstract
Background/Objectives: Huntington’s disease (HD) is an autosomal dominant neurodegenerative disorder caused by a CAG nucleotide repeat expansion in the Huntingtin (HTT) gene. Dysregulation of microRNAs (miRNAs), key post-transcriptional regulators of gene expression, has been implicated in HD pathogenesis, although their [...] Read more.
Background/Objectives: Huntington’s disease (HD) is an autosomal dominant neurodegenerative disorder caused by a CAG nucleotide repeat expansion in the Huntingtin (HTT) gene. Dysregulation of microRNAs (miRNAs), key post-transcriptional regulators of gene expression, has been implicated in HD pathogenesis, although their specific roles remain incompletely understood. Methods: Peripheral blood mononuclear cells from Sicilian HD patients and matched healthy controls were subjected to small RNA sequencing. Differential expression analysis was conducted using DESeq2 (version 1.44.0), with significance defined as |fold change| ≥ 1.5 and adjusted p ≤ 0.05. Ingenuity Pathway Analysis (IPA) was applied to assess functional enrichment, focusing on neurological diseases, inflammatory processes, and miRNA–RNA messenger (mRNA) interaction networks. Results: A total of 790 differentially expressed miRNAs were identified in HD patients (270 upregulated and 520 downregulated). IPA revealed enrichment in pathways related to organismal injury, neurological disease, and inflammatory responses. Four major regulatory networks linked differentially expressed miRNAs to neurodegenerative processes, with target genes involved in neuroinflammation, cellular stress responses, and metabolic dysfunction. Cross-referencing with previous RNA-seq data identified 5721 high-confidence miRNA–mRNA interactions, implicating 721 target genes across 54 key canonical pathways. Conclusions: HD patients exhibit a distinct and reproducible peripheral blood miRNA expression signature. These dysregulated miRNAs may represent accessible biomarkers and provide mechanistic insights into HD pathogenesis, with potential applications for diagnosis, prognosis, and therapeutic development. Full article
(This article belongs to the Special Issue Neurological Diseases: Biomarkers, Diagnosis and Prognosis)
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30 pages, 4355 KB  
Review
Stents and Emerging Alternatives in Upper Gastrointestinal Endoscopy: A Comprehensive Review
by Francesca Bernardi, Giuseppe Dell’Anna, Paolo Biamonte, Alberto Barchi, Lorella Fanti, Alberto Malesci, Lorenzo Fuccio, Emanuele Sinagra, Giulio Calabrese, Antonio Facciorusso, Angelo Bruni, Gianfranco Donatelli, Silvio Danese and Francesco Vito Mandarino
Diagnostics 2025, 15(18), 2344; https://doi.org/10.3390/diagnostics15182344 - 16 Sep 2025
Cited by 2 | Viewed by 2002
Abstract
Endoscopy has revolutionized the management of gastrointestinal (GI) conditions, enabling less invasive treatments for cases that once required surgery. Among these innovations, endoscopically placed stents have played a crucial role in the treatment of upper GI tract diseases for many years. Today, stents [...] Read more.
Endoscopy has revolutionized the management of gastrointestinal (GI) conditions, enabling less invasive treatments for cases that once required surgery. Among these innovations, endoscopically placed stents have played a crucial role in the treatment of upper GI tract diseases for many years. Today, stents remain a valid first-line treatment for specific indications; however, advancements in endoscopic technologies have led to a reassessment of their role in some conditions. While stents are still the primary choice for palliation of malignant esophageal strictures, endoscopic vacuum therapy (EVT) has demonstrated superior outcomes for esophageal leaks, and Endoscopic UltraSonography-guided placement of lumen-apposing metal stents (LAMS) has outperformed traditional stents in gastric obstructions. This review evaluates current stent indications, highlighting upper GI conditions where they remain the best option, while also exploring emerging technologies and updated clinical guidelines to optimize patient care. Full article
(This article belongs to the Special Issue Advances in the Diagnostic Imaging of Gastrointestinal Diseases)
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19 pages, 3431 KB  
Article
Computed Tomography Radiomics and Machine Learning for Prediction of Histology-Based Hepatic Steatosis Scores
by Winston T. Chu, Hui Wang, Marcelo A. Castro, Venkatesh Mani, C. Paul Morris, Thomas C. Friedrich, David H. O’Connor, Courtney L. Finch, Ji Hyun Lee, Philip J. Sayre, Gabriella Worwa, Anya Crane, Jens H. Kuhn, Ian Crozier, Jeffrey Solomon and Claudia Calcagno
Diagnostics 2025, 15(18), 2310; https://doi.org/10.3390/diagnostics15182310 - 11 Sep 2025
Viewed by 1138
Abstract
Background/Objective: Computed tomography (CT) can be used to non-invasively assess the health of the liver; however, radiologist evaluation and simple thresholding alone are insufficient for diagnosis of hepatic steatosis, necessitating biopsies. This study explored CT radiomics and machine learning to enable non-invasive, objective, [...] Read more.
Background/Objective: Computed tomography (CT) can be used to non-invasively assess the health of the liver; however, radiologist evaluation and simple thresholding alone are insufficient for diagnosis of hepatic steatosis, necessitating biopsies. This study explored CT radiomics and machine learning to enable non-invasive, objective, and quantitative prediction of steatosis severity across the macaque liver. Methods: In this retrospective study, CT images of 42 crab-eating macaques (age [yr] = 6.1 ± 1.7; sex [male/female] = 26/16) with varying degrees of hepatic steatosis were analyzed, and the results were compared to histology-based steatosis scores of livers from the same animals. After extracting radiomic features, a thorough array of statistical analyses, feature selection techniques, and machine learning models were applied to identify a distinct radiomic signature of histologically defined hepatic steatosis. Results: We identified 12 radiomic features that correlated with steatosis scores, and hierarchical clustering based on radiomic attributes alone revealed clusters roughly aligning with steatosis severity groups. The k-nearest neighbors model architecture best predicted histopathologic steatosis scores in both classification and regression tasks (area under the receiver operating characteristic curve [AUC ROC] = 0.89 ± 0.09; root-mean-square error [RMSE] = 0.60 ± 0.10). Feature analyses identified seven key radiomic features (six first-order features and one gray-level co-occurrence matrix feature) that were most important when predicting steatosis. Conclusions: We identified a CT radiomic signature of steatosis and demonstrated that histology-based steatosis scores can be predicted non-invasively and objectively using machine learning and CT radiomics as a potential alternative to invasive core biopsies. Given the strong similarities in liver structure, liver function, and hepatic steatosis pathophysiology between macaques and humans, these findings have the potential to translate to humans. Full article
(This article belongs to the Special Issue Artificial Intelligence-Driven Radiomics in Medical Diagnosis)
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19 pages, 912 KB  
Article
Exploring IL-10 and NOS3 Genetic Variants as a Risk Factor for Neonatal Respiratory Distress Syndrome and Its Outcome
by Mădălina Anciuc-Crauciuc, George-Andrei Crauciuc, Florin Tripon, Marta Simon, Manuela Camelia Cucerea and Claudia Violeta Bănescu
Diagnostics 2025, 15(17), 2259; https://doi.org/10.3390/diagnostics15172259 - 6 Sep 2025
Viewed by 1760
Abstract
Background/Objective: Neonatal respiratory distress syndrome (RDS) is a leading cause of morbidity and mortality in preterm infants. Interleukin-10 (IL-10) and endothelial nitric oxide synthase (eNOS, also known as NOS3) regulate inflammation and vascular tone, and genetic variants may influence the risk of [...] Read more.
Background/Objective: Neonatal respiratory distress syndrome (RDS) is a leading cause of morbidity and mortality in preterm infants. Interleukin-10 (IL-10) and endothelial nitric oxide synthase (eNOS, also known as NOS3) regulate inflammation and vascular tone, and genetic variants may influence the risk of RDS. To investigate the association between IL-10 rs1800872 (c.-149+1984T>G), IL-10 rs1800896 (c.-149+2474T>C), and NOS3 rs2070744 (c.-149+1691C>T), NOS3 rs1799983 (c.894T>G) variants and the risk of RDS in a Romanian cohort of preterm neonates. Methods: This case–control study included 340 preterm neonates (113 with RDS, 227 controls) born at <36 weeks of gestation. Genotyping was performed using TaqMan SNP assays. Logistic regression adjusted for gestational age and sex estimated odds ratios (ORs) and 95% confidence intervals (CIs). ROC analyses evaluated predictive performance. Results: No significant differences in genotype or allele distributions were observed between RDS and control groups for any variant. Haplotype analysis also revealed no association with RDS susceptibility or severity. NOS3:c.894T>G variant was associated with reduced risk of severe RDS after correction (adjusted p = 0.009), though survival analysis showed no significant genotype-specific effects. Epistatic genotype interaction was observed for the IL-10 T/G + T/C, present only in RDS (p = 0.0026). ROC analysis revealed a clinical prediction of RDS (AUC = 0.996), while the addition of genetic variants improved discrimination for severity (AUC = 0.865; 95% CI: 0.773–0.957) and mortality (AUC = 0.913; 95% CI: 0.791–1.000). Conclusions: IL-10 and NOS3 variants were not individually associated with overall RDS susceptibility. The observed epistatic interactions and the potential protective effect of NOS3:c.894T>G against severe forms can suggest modulatory roles in disease progression. Larger, ethnically homogeneous cohorts are needed to confirm these findings and assess their potential for informing personalized care for neonates. Full article
(This article belongs to the Section Pathology and Molecular Diagnostics)
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11 pages, 594 KB  
Article
Nanopore 16S-Full Length and ITS Sequencing for Microbiota Identification in Intra-Abdominal Infections
by Jian-Jhou Liao, Yong-Sian Chen, Hui-Chen Lin, Yi-Ju Chen, Kuo-Lung Lai, Yan-Chiao Mao, Po-Yu Liu and Han-Ni Chuang
Diagnostics 2025, 15(17), 2257; https://doi.org/10.3390/diagnostics15172257 - 6 Sep 2025
Cited by 1 | Viewed by 957
Abstract
Background/Objectives: Intra-abdominal infections (IAIs) constitute significant clinical challenges that can rapidly progress to life-threatening conditions if not promptly diagnosed and treated. Traditional pathogen identification methodologies, predominantly culture-based, frequently necessitate extended turnaround times (TATs) and exhibit limitations in detecting polymicrobial or anaerobic infections. [...] Read more.
Background/Objectives: Intra-abdominal infections (IAIs) constitute significant clinical challenges that can rapidly progress to life-threatening conditions if not promptly diagnosed and treated. Traditional pathogen identification methodologies, predominantly culture-based, frequently necessitate extended turnaround times (TATs) and exhibit limitations in detecting polymicrobial or anaerobic infections. Methods: We implemented Oxford Nanopore Technology (ONT) sequencing to analyze the microbiota in patients with IAIs at Taichung Veterans General Hospital. The study cohort comprised sixteen patients with IAIs. Following specimen collection, DNA extraction was performed, and then full-length 16S rRNA and ITS region amplification and subsequent ONT sequencing were conducted. Results: Conventional clinical culture-based methodologies detected pathogens in 13 patients. Among the 14 successfully sequenced specimens, ONT sequencing elucidated a diverse spectrum of bacteria and fungi, with read counts ranging from 375 to 19,716. Polymicrobial and anaerobe-enriched communities were predominantly observed in lower gastrointestinal tract infections, specifically colonic or small bowel perforations, whereas upper gastrointestinal perforations, including those of the stomach or duodenum, were frequently dominated by Streptococcus, Granulicatella, or Candida species. The sequencing identified pathogens concordant with culture results, including Escherichia coli, Enterococcus, and Candida albicans. In addition, anaerobic or low-abundance taxa were exclusively identifiable through sequencing methodologies. Conclusions: ONT sequencing facilitated results within up to 24 h and successfully detected pathogens in culture-negative cases. These findings underscore the utility of ONT sequencing as an expeditious and comprehensive diagnostic modality for IAIs. Full article
(This article belongs to the Section Diagnostic Microbiology and Infectious Disease)
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22 pages, 3504 KB  
Article
New Application for the Early Detection of Wound Infections Using a Near-Infrared Fluorescence Device and Forward-Looking Thermal Camera
by Ha Jong Nam, Se Young Kim and Hwan Jun Choi
Diagnostics 2025, 15(17), 2221; https://doi.org/10.3390/diagnostics15172221 - 1 Sep 2025
Viewed by 1259
Abstract
Background: Timely and accurate identification of wound infections is essential for effective management, yet remains clinically challenging. This study evaluated the utility of a near-infrared autofluorescence imaging system (Fluobeam®, Fluoptics, Grenoble, France) and a thermal imaging system (FLIR®, Teledyne [...] Read more.
Background: Timely and accurate identification of wound infections is essential for effective management, yet remains clinically challenging. This study evaluated the utility of a near-infrared autofluorescence imaging system (Fluobeam®, Fluoptics, Grenoble, France) and a thermal imaging system (FLIR®, Teledyne LLC, Thousand Oaks, CA, USA) for detecting bacterial and fungal infections in chronic wounds. Fluobeam® enables real-time visualization of microbial autofluorescence without exogenous contrast agents, whereas FLIR® detects localized thermal changes associated with infection-related inflammation. Methods: This retrospective clinical study included 33 patients with suspected wound infections. All patients underwent autofluorescence imaging using Fluobeam® and concurrent thermal imaging with FLIR®. Imaging findings were compared with microbiological culture results, clinical signs of infection, and semi-quantitative microbial burdens. Results: Fluobeam® achieved a sensitivity of 78.3% and specificity of 80.0% in detecting culture-positive infections. Fluorescence signal intensity correlated strongly with microbial burden (r = 0.76, p < 0.01) and clinical indicators, such as exudate, swelling, and malodor. Pathogens with high metabolic fluorescence, including Pseudomonas aeruginosa and Candida spp., were consistently identified. Representative cases demonstrate the utility of fluorescence imaging in guiding targeted debridement and enhancing intraoperative decision-making. Conclusions: Near-infrared autofluorescence imaging with Fluobeam® and thermal imaging with FLIR® offer complementary, noninvasive diagnostic insights into microbial burden and host inflammatory response. The combined use of these modalities may improve infection detection, support clinical decision-making, and enhance wound care outcomes. Full article
(This article belongs to the Section Medical Imaging and Theranostics)
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13 pages, 810 KB  
Article
Optimization of 16S RNA Sequencing and Evaluation of Metagenomic Analysis with Kraken 2 and KrakenUniq
by Nasserdine Papa Mze, Cécile Fernand-Laurent, Sonnentrucker Maxence, Olfa Zanzouri, Solen Daugabel and Stéphanie Marque Juillet
Diagnostics 2025, 15(17), 2175; https://doi.org/10.3390/diagnostics15172175 - 27 Aug 2025
Viewed by 2155
Abstract
Background/Objectives: 16S ribosomal RNA sequencing has, for several years, been the main means of identifying bacterial and archaeal species. Low-throughput Sanger sequencing is often used for the detection and identification of microbial species, but this technique has several limitations. The use of [...] Read more.
Background/Objectives: 16S ribosomal RNA sequencing has, for several years, been the main means of identifying bacterial and archaeal species. Low-throughput Sanger sequencing is often used for the detection and identification of microbial species, but this technique has several limitations. The use of high-throughput sequencers may be a good alternative to improve patient identification, especially for polyclonal infections and management. Kraken 2 and KrakenUniq are free, high-throughput tools providing a very rapid and accurate classification for metagenomic analyses. However, Kraken 2 can present false-positive results relative to KrakenUniq, which can be limiting in hospital settings requiring high levels of accuracy. The aim of this study was to establish an alternative next-generation sequencing technique to replace Sanger sequencing and to confirm that KrakenUniq is an excellent analysis tool that does not present false results relative to Kraken 2. Methods: DNA was extracted from reference bacterial samples for Laboratory Quality Controls (QCMDs) and the V2-V3 and V3-V4 regions of the 16S ribosomal gene were amplified. Amplified products were sequenced with the Illumina 16S Metagenomic Sequencing protocol with minor modifications to adapt and sequence an Illumina 16S library with a small 500-cycle nano-flow cell. The raw files (Fastq) were analyzed on a commercial Smartgene platform for comparison with Kraken 2 and KrakenUniq results. KrakenUniq was used with a standard bacterial database and with the 16S-specific Silva138, RDP11.5, and Greengenes 13.5 databases. Results: Seven of the eight (87.5%) QCMDs were correctly sequenced and identified by Sanger sequencing. The remaining QCMD, QCMD6, could not be identified through Sanger sequencing. All QCMDs were correctly sequenced and identified by MiSeq with the commercial Smartgene analysis platform. QCMD6 contained two bacteria, Acinetobacter and Klebsiella. KrakenUniq identification results were identical to those of Smartgene, whereas Kraken 2 yielded 25% false-positive results. Conclusions: If Sanger identification fails, MiSeq with a small nano-flow cell is a very good alternative for the identification of bacterial species. KrakenUniq is a free, fast, and easy-to-use tool for identifying and classifying bacterial infections. Full article
(This article belongs to the Section Pathology and Molecular Diagnostics)
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42 pages, 1982 KB  
Article
SHAP-Based Identification of Potential Acoustic Biomarkers in Patients with Post-Thyroidectomy Voice Disorder
by Salih Celepli, Irem Bigat, Bilgi Karakas, Huseyin Mert Tezcan, Mehmet Dincay Yar, Pinar Celepli, Mehmet Feyzi Aksahin, Oguz Hancerliogullari, Yavuz Fuat Yilmaz and Osman Erogul
Diagnostics 2025, 15(16), 2065; https://doi.org/10.3390/diagnostics15162065 - 18 Aug 2025
Viewed by 1208
Abstract
Objective: The objective of this study was to identify potential robust acoustic biomarkers for functional post-thyroidectomy voice disorder (PTVD) that may support early diagnosis and personalized treatment strategies, using acoustic analysis and explainable machine learning methods. Methods: Spectral and cepstral features were extracted [...] Read more.
Objective: The objective of this study was to identify potential robust acoustic biomarkers for functional post-thyroidectomy voice disorder (PTVD) that may support early diagnosis and personalized treatment strategies, using acoustic analysis and explainable machine learning methods. Methods: Spectral and cepstral features were extracted from /a/ and /i/ voice recordings collected preoperatively and 4–6 weeks postoperatively from a total of 126 patients. Various Support Vector Machine (SVM) and Boosting models were trained. SHapley Additive exPlanations (SHAP) analysis was applied to enhance interpretability. SHAP values from training and test sets were compared via scatter plots to identify stable candidate biomarkers with high consistency. Results: GentleBoost (AUC = 0.85) and LogitBoost (AUC = 0.81) demonstrated the highest classification performance. Performance metrics across all models were evaluated for statistical significance. DeLong’s test was conducted to assess differences between ROC curves. The features iCPP, aCPP, and aHNR were identified as stable candidate biomarkers, exhibiting consistent SHAP distributions in both training and test sets in terms of direction and magnitude. These features showed statistically significant correlations with PTVD (p < 0.05) and demonstrated strong effect sizes (Cohen’s d = −2.95, −1.13, −0.60). Their diagnostic relevance was further supported by post hoc power analyses (iCPP: 1.00; aCPP: 0.998). Conclusions: SHAP-supported machine learning models offer an objective and clinically meaningful approach for evaluating PTVD. The identified features may serve as potential biomarkers to guide individualized voice therapy decisions during the early postoperative period. Full article
(This article belongs to the Special Issue A New Era in Diagnosis: From Biomarkers to Artificial Intelligence)
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19 pages, 487 KB  
Review
Smart Clothing and Medical Imaging Innovations for Real-Time Monitoring and Early Detection of Stroke: Bridging Technology and Patient Care
by David Sipos, Kata Vészi, Bence Bogár, Dániel Pető, Gábor Füredi, József Betlehem and Attila András Pandur
Diagnostics 2025, 15(15), 1970; https://doi.org/10.3390/diagnostics15151970 - 6 Aug 2025
Viewed by 1689
Abstract
Stroke is a significant global health concern characterized by the abrupt disruption of cerebral blood flow, leading to neurological impairment. Accurate and timely diagnosis—enabled by imaging modalities such as computed tomography (CT) and magnetic resonance imaging (MRI)—is essential for differentiating stroke types and [...] Read more.
Stroke is a significant global health concern characterized by the abrupt disruption of cerebral blood flow, leading to neurological impairment. Accurate and timely diagnosis—enabled by imaging modalities such as computed tomography (CT) and magnetic resonance imaging (MRI)—is essential for differentiating stroke types and initiating interventions like thrombolysis, thrombectomy, or surgical management. In parallel, recent advancements in wearable technology, particularly smart clothing, offer new opportunities for stroke prevention, real-time monitoring, and rehabilitation. These garments integrate various sensors, including electrocardiogram (ECG) electrodes, electroencephalography (EEG) caps, electromyography (EMG) sensors, and motion or pressure sensors, to continuously track physiological and functional parameters. For example, ECG shirts monitor cardiac rhythm to detect atrial fibrillation, smart socks assess gait asymmetry for early mobility decline, and EEG caps provide data on neurocognitive recovery during rehabilitation. These technologies support personalized care across the stroke continuum, from early risk detection and acute event monitoring to long-term recovery. Integration with AI-driven analytics further enhances diagnostic accuracy and therapy optimization. This narrative review explores the application of smart clothing in conjunction with traditional imaging to improve stroke management and patient outcomes through a more proactive, connected, and patient-centered approach. Full article
(This article belongs to the Special Issue Novel Methods and Devices for Monitoring and Diagnosing in Critical Care)
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21 pages, 799 KB  
Review
The Molecular Diagnosis of Invasive Fungal Diseases with a Focus on PCR
by Lottie Brown, Mario Cruciani, Charles Oliver Morton, Alexandre Alanio, Rosemary A. Barnes, J. Peter Donnelly, Ferry Hagen, Rebecca Gorton, Michaela Lackner, Juergen Loeffler, Laurence Millon, Riina Rautemaa-Richardson and P. Lewis White
Diagnostics 2025, 15(15), 1909; https://doi.org/10.3390/diagnostics15151909 - 30 Jul 2025
Cited by 1 | Viewed by 4327
Abstract
Background: Polymerase chain reaction (PCR) is highly sensitive and specific for the rapid diagnosis of invasive fungal disease (IFD) but is not yet widely implemented due to concerns regarding limited standardisation between assays, the lack of commercial options and the absence of [...] Read more.
Background: Polymerase chain reaction (PCR) is highly sensitive and specific for the rapid diagnosis of invasive fungal disease (IFD) but is not yet widely implemented due to concerns regarding limited standardisation between assays, the lack of commercial options and the absence of clear guidance on interpreting results. Objectives and Methods: This review provides an update on technical and clinical aspects of PCR for the diagnosis of the most pertinent fungal pathogens, including Aspergillus, Candida, Pneumocystis jirovecii, Mucorales spp., and endemic mycoses. Summary: Recent meta-analyses have demonstrated that quantitative PCR (qPCR) offers high sensitivity for diagnosing IFD, surpassing conventional microscopy, culture and most serological tests. The reported specificity of qPCR is likely underestimated due to comparison with imperfect reference standards with variable sensitivity. Although the very low limit of detection of qPCR can generate false positive results due to procedural contamination or patient colonisation (particularly in pulmonary specimens), the rates are comparable to those observed for biomarker testing. When interpreting qPCR results, it is essential to consider the pre-test probability, determined by the patient population, host factors, clinical presentation and risk factors. For patients with low to moderate pre-test probability, the use of sensitive molecular tests, often in conjunction with serological testing or biomarkers, can effectively exclude IFD when all tests return negative results, reducing the need for empirical antifungal therapy. Conversely, for patients with high pre-test probability and clinical features of IFD, qPCR testing on invasive specimens from the site of infection (such as tissue or bronchoalveolar lavage fluid) can confidently rule in the disease. The development of next-generation sequencing methods to detect fungal infection has the potential to enhance the diagnosis of IFD, but standardisation and optimisation are essential, with improved accessibility underpinning clinical utility. Full article
(This article belongs to the Special Issue Advances in Diagnostic and Therapeutic Strategies for Infectious Diseases)
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23 pages, 481 KB  
Review
Bug Wars: Artificial Intelligence Strikes Back in Sepsis Management
by Georgios I. Barkas, Ilias E. Dimeas and Ourania S. Kotsiou
Diagnostics 2025, 15(15), 1890; https://doi.org/10.3390/diagnostics15151890 - 28 Jul 2025
Viewed by 3616
Abstract
Sepsis remains a leading global cause of mortality, with delayed recognition and empirical antibiotic overuse fueling poor outcomes and rising antimicrobial resistance. This systematic scoping review evaluates the current landscape of artificial intelligence (AI) and machine learning (ML) applications in sepsis care, focusing [...] Read more.
Sepsis remains a leading global cause of mortality, with delayed recognition and empirical antibiotic overuse fueling poor outcomes and rising antimicrobial resistance. This systematic scoping review evaluates the current landscape of artificial intelligence (AI) and machine learning (ML) applications in sepsis care, focusing on early detection, personalized antibiotic management, and resistance forecasting. Literature from 2019 to 2025 was systematically reviewed following PRISMA-ScR guidelines. A total of 129 full-text articles were analyzed, with study quality assessed via the JBI and QUADAS-2 tools. AI-based models demonstrated robust predictive performance for early sepsis detection (AUROC 0.68–0.99), antibiotic stewardship, and resistance prediction. Notable tools, such as InSight and KI.SEP, leveraged multimodal clinical and biomarker data to provide actionable, real-time support and facilitate timely interventions. AI-driven platforms showed potential to reduce inappropriate antibiotic use and nephrotoxicity while optimizing outcomes. However, most models are limited by single-center data, variable interpretability, and insufficient real-world validation. Key challenges remain regarding data integration, algorithmic bias, and ethical implementation. Future research should prioritize multicenter validation, seamless integration with clinical workflows, and robust ethical frameworks to ensure safe, equitable, and effective adoption. AI and ML hold significant promise to transform sepsis management, but their clinical impact depends on transparent, validated, and user-centered deployment. Full article
(This article belongs to the Special Issue Recent Advances in Sepsis)
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12 pages, 541 KB  
Review
Presepsin in Hepatic Pathology: Bridging the Gap in Early Sepsis Detection
by Dana-Maria Bilous, Mihai Ciocîrlan, Cătălina Vlăduț and Carmen-Georgeta Fierbințeanu-Braticevici
Diagnostics 2025, 15(15), 1871; https://doi.org/10.3390/diagnostics15151871 - 25 Jul 2025
Viewed by 1968
Abstract
Sepsis represents a major cause of mortality, especially among patients with liver cirrhosis, who are at increased risk due to immune dysfunction, gut-derived bacterial translocation, and altered hepatic metabolism. Traditional biomarkers such as C-reactive protein (CRP), procalcitonin (PCT), and interleukin-6 (IL-6) often have [...] Read more.
Sepsis represents a major cause of mortality, especially among patients with liver cirrhosis, who are at increased risk due to immune dysfunction, gut-derived bacterial translocation, and altered hepatic metabolism. Traditional biomarkers such as C-reactive protein (CRP), procalcitonin (PCT), and interleukin-6 (IL-6) often have reduced diagnostic reliability in this subgroup, due to impaired liver and renal function. Presepsin, a soluble fragment of CD14 released during phagocytic activation, has emerged as a promising biomarker for early sepsis detection. This systematic review explores the diagnostic and prognostic utility of presepsin in cirrhotic and non-cirrhotic patients with suspected infection. Data from multiple clinical studies indicate that presepsin levels correlate with infection severity and clinical scores such as SOFA and APACHE II. In cirrhotic patients, presepsin demonstrates superior sensitivity and specificity compared to conventional biomarkers, maintaining diagnostic value despite hepatic dysfunction. Its utility extends to differentiating bacterial infections from fungal infections and monitoring treatment response. While preliminary evidence is compelling, further prospective, multicenter studies are required to validate its integration into standard care algorithms. Presepsin may become a valuable addition to clinical decision-making tools, particularly in hepatology-focused sepsis management. Full article
(This article belongs to the Special Issue Recent Advances in Sepsis)
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27 pages, 18604 KB  
Review
A Plea for a Paradigm Shift from X-Ray to Ultrasound in Adults: An Update for Emergency Physicians, General Practitioners, Orthopedists and Sports Medicine Physicians
by Joseph Osterwalder, Beatrice Hoffmann, Mike Blaivas, Rudolf Horn, Eric Matchiner and Christoph F. Dietrich
Diagnostics 2025, 15(14), 1827; https://doi.org/10.3390/diagnostics15141827 - 21 Jul 2025
Viewed by 904
Abstract
This update is aimed at various specialists who deal with fractures, such as emergency physicians, general practitioners, orthopedists, and sports medicine physicians. The Global Burden of Disease 2019 Fracture Collaborators estimated the worldwide incidence to be at 178 million, i.e., 2.2 fractures per [...] Read more.
This update is aimed at various specialists who deal with fractures, such as emergency physicians, general practitioners, orthopedists, and sports medicine physicians. The Global Burden of Disease 2019 Fracture Collaborators estimated the worldwide incidence to be at 178 million, i.e., 2.2 fractures per 1000 people per year. Traditionally, X-rays are the first choice for suspected fractures. However, many fractures can also be detected or excluded with ultrasound. This option is especially attractive when available at the “point of care,”, i.e., at the patient’s bedside in the ambulatory or emergency setting. Point-of-care ultrasound provides clinicians with a simple, cost-effective imaging tool without radiation and complex infrastructure. The evidence suggests that ultrasound has high diagnostic sensitivity and can reliably rule out many fractures with a high degree of certainty. When applied correctly, it could potentially save millions of radiographs and, in some cases, even compete with the accuracy of X-rays and CT scans. These findings suggest a potential paradigm shift. This update discusses the advantages of ultrasound, its examination technique, sonoanatomy of fractures, and relevant indication groups, including its application for analgesia through nerve, fascia, and fascial plane blocks. Ultrasound’s diagnostic value supports its integration into routine fracture assessment, particularly in emergency and ambulatory care settings Full article
(This article belongs to the Special Issue Recent Advances and Application of Point of Care Ultrasound)
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9 pages, 1044 KB  
Article
Differential Visual Outcomes in Neovascular AMD Based on Ellipsoid Zone Integrity and Fluid Presence: Insights from a Phase III Trial
by Justis P. Ehlers, Sari Yordi, Hasan Cetin, Reem Amine, Karen Matar, Asmita Indurkar, Katherine E. Talcott, Peter K. Kaiser, Arshad M. Khanani, Joanne Hu and Sunil K. Srivastava
Diagnostics 2025, 15(14), 1815; https://doi.org/10.3390/diagnostics15141815 - 18 Jul 2025
Viewed by 796
Abstract
Background/Objectives: To investigate the effect of ellipsoid zone (EZ) integrity and retinal fluid on best-corrected visual acuity (BCVA) in neovascular, age-related macular degeneration. Methods: This was a post hoc treatment-agnostic analysis of the phase 3 HAWK trial. Intraretinal fluid (IRF), subretinal [...] Read more.
Background/Objectives: To investigate the effect of ellipsoid zone (EZ) integrity and retinal fluid on best-corrected visual acuity (BCVA) in neovascular, age-related macular degeneration. Methods: This was a post hoc treatment-agnostic analysis of the phase 3 HAWK trial. Intraretinal fluid (IRF), subretinal fluid (SRF), and ellipsoid zone (EZ) integrity were quantified over 48 weeks. EZ integrity maintenance was defined as EZ-RPE central subfield thickness (CST) >20 µm; partial EZ attenuation was EZ-RPE CST >0 and ≤20 µm; total EZ attenuation was EZ-RPE CST = 0 µm. Results: During treatment, BCVA in eyes with no fluid (66.5 to 70.2 letters) was greater than in eyes with IRF (59.5 to 62.4 letters) but comparable to BCVA in eyes with SRF (64.9 to 68.8 letters). In eyes with no fluid, BCVA was consistently greater in eyes with EZ integrity maintained (73.4 to 78.4 letters) than in eyes with EZ partial attenuation (65.3 to 66.5 letters) or with EZ total attenuation (55.8 to 59.8 letters). Conclusions: Eyes without fluid with EZ preservation achieved the highest overall BCVA, especially when compared to eyes without fluid and a lack of EZ preservation and to eyes with SRF. Achieving a “dry” status with preservation of EZ integrity is important in optimizing visual outcomes. Full article
(This article belongs to the Section Biomedical Optics)
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13 pages, 851 KB  
Article
Performance Evaluation of a Fully Automated Molecular Diagnostic System for Multiplex Detection of SARS-CoV-2, Influenza A/B Viruses, and Respiratory Syncytial Virus
by James G. Komu, Dulamjav Jamsransuren, Sachiko Matsuda, Haruko Ogawa and Yohei Takeda
Diagnostics 2025, 15(14), 1791; https://doi.org/10.3390/diagnostics15141791 - 16 Jul 2025
Cited by 1 | Viewed by 1235
Abstract
Background/Objectives: Concurrent outbreaks of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), influenza A and B viruses (IAV/IBV), and respiratory syncytial virus (RSV) necessitate rapid and precise differential laboratory diagnostic methods. This study aimed to evaluate the multiplex molecular diagnostic performance of the [...] Read more.
Background/Objectives: Concurrent outbreaks of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), influenza A and B viruses (IAV/IBV), and respiratory syncytial virus (RSV) necessitate rapid and precise differential laboratory diagnostic methods. This study aimed to evaluate the multiplex molecular diagnostic performance of the geneLEAD VIII system (Precision System Science Co., Ltd., Matsudo, Japan), a fully automated sample-to-result precision instrument, in conjunction with the VIASURE SARS-CoV-2, Flu & RSV Real Time PCR Detection Kit (CerTest Biotec, S.L., Zaragoza, Spain). Methods: The specific detection capabilities of SARS-CoV-2, IAV/IBV, and RSV genes were evaluated using virus-spiked saliva and nasal swab samples. Using saliva samples, the viral titer detection limits of geneLEAD/VIASURE and manual referent singleplex RT-qPCR assays were compared. The performance of geneLEAD/VIASURE in analyzing single- and multiple-infection models was scrutinized. The concordance between the geneLEAD/VIASURE and the manual assays was assessed. Results: The geneLEAD/VIASURE successfully detected all the virus genes in the saliva and nasal swab samples despite some differences in the Ct values. The viral titer detection limits in the saliva samples for SARS-CoV-2, IAV, IBV, and RSV using geneLEAD/VIASURE were 100, ≤10−2, 100, and 102 TCID50/mL, respectively, compared to ≤10−1, ≤100, ≤100, and ≤104 TCID50/mL, respectively, in the manual assays. geneLEAD/VIASURE yielded similar Ct values in the single- and multiple-infection models, with some exceptions noted in the triple-infection models when low titers of RSV were spiked with high titers of the other viruses. The concordance between geneLEAD/VIASURE and the manual assays was high, with Pearson’s R2 values of 0.90, 0.85, 0.92, and 0.95 for SARS-CoV-2, IAV, IBV, and RSV, respectively. Conclusions: geneLEAD/VIASURE is a reliable diagnostic tool for detecting SARS-CoV-2, IAV/IBV, and RSV in single- and multiple-infection scenarios. Full article
(This article belongs to the Special Issue Editorial Board Members' Collection Series: Molecular Diagnostics of Infectious Diseases)
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12 pages, 3342 KB  
Article
An Additional 30-s Observation of the Right-Sided Colon Using a Novel Endoscopic System with Texture and Color Enhancement Imaging Decreases Polyp Miss Rates: A Multicenter Study
by Yoshikazu Inagaki, Naohisa Yoshida, Hikaru Hashimoto, Yutaka Inada, Takaaki Murakami, Takahito Shimomura, Kyoichi Kassai, Yuri Tomita, Reo Kobayashi, Ken Inoue, Ryohei Hirose, Osamu Dohi and Yoshito Itoh
Diagnostics 2025, 15(14), 1759; https://doi.org/10.3390/diagnostics15141759 - 11 Jul 2025
Cited by 1 | Viewed by 1190
Abstract
Background/Objectives: White light imaging (WLI) of colonoscopy has a 26% adenoma miss rate. We aimed to evaluate the effectiveness of an additional 30 s (Add-30s) observation of the right-sided colon using a novel system (EVIS X1; Olympus Co.) with texture and color enhancement [...] Read more.
Background/Objectives: White light imaging (WLI) of colonoscopy has a 26% adenoma miss rate. We aimed to evaluate the effectiveness of an additional 30 s (Add-30s) observation of the right-sided colon using a novel system (EVIS X1; Olympus Co.) with texture and color enhancement imaging (TXI). Methods: We reviewed 515 patients who underwent colonoscopy with Add-30s TXI between February 2021 and December 2023 at three affiliated hospitals. After initial right-sided colon observation with WLI, the colonoscope was reinserted into the cecum, and the right-sided colon was re-observed with Add-30s TXI. Adenoma and sessile serrated lesion (SSL) detection rate (ASDR) and adenoma detection rate (ADR) were examined. Multivariate analysis identified factors influencing lesion detection using the Add-30s TXI. The difference in WLI and TXI between the novel and previous scopes was performed using propensity score matching (PSM). The efficacy of WLI with the novel system was compared to that of the previous system. Results: Among the 515 cases, Add-30s TXI observation increased right-sided ADR and ASDR by 7.4% and 9.5%, respectively. The multivariate analysis showed novel scope as an independent factor for adenoma and SSL detection (odds ratio: 2.41, p < 0.01). Right-sided ADR and ASDR for Add-30s TXI were significantly higher in the novel scope than the previous scope (ADR, 25.2% vs. 15.3%; p = 0.04; ASDR, 32.4% vs. 18.9%; p = 0.02). ASDR for WLI observation was significantly higher in the novel system than the previous system (34.8% vs. 25.9%; p < 0.01). Conclusions: Add-30s TXI significantly improved the detection of missed adenomas and SSLs in the right-sided colon. Full article
(This article belongs to the Special Issue Recent Advances and Challenges in Gastrointestinal Endoscopy)
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18 pages, 573 KB  
Review
Challenges, Difficulties, and Delayed Diagnosis of Multiple Myeloma
by Tugba Zorlu, Merve Apaydin Kayer, Nazik Okumus, Turgay Ulaş, Mehmet Sinan Dal and Fevzi Altuntas
Diagnostics 2025, 15(13), 1708; https://doi.org/10.3390/diagnostics15131708 - 4 Jul 2025
Cited by 2 | Viewed by 3032
Abstract
Background: Multiple myeloma (MM) is a heterogeneous plasma cell malignancy with non-specific symptoms and disease heterogeneity at clinical and biological levels. This non-specific set of symptoms, including bone pain, anemia, renal failure, hypercalcemia, and neuropathy, can mislead diagnosis as chronic or benign conditions, [...] Read more.
Background: Multiple myeloma (MM) is a heterogeneous plasma cell malignancy with non-specific symptoms and disease heterogeneity at clinical and biological levels. This non-specific set of symptoms, including bone pain, anemia, renal failure, hypercalcemia, and neuropathy, can mislead diagnosis as chronic or benign conditions, resulting in a delay in diagnosis. Timely identification is paramount to prevent organ damage and reduce morbidity. Methods: In this review, we present an overview of recent literature concerning the factors leading to the delayed diagnosis of MM and the impact of delayed diagnosis. This includes factors relevant to physicians and systems, diagnostic processes, primary healthcare services, and laboratory and imaging data access and interpretation. Other emerging technologies to diagnose NCIs include AI-based decision support systems and biomarker-focused strategies. Findings: Delayed diagnosis can lead to presentation at advanced disease stages associated with life-threatening complications and shorter progression-free survival. Patients are often seen by many physicians before they are referred to hematology. Understanding of clinical red flags for MM in primary care is inadequate. Our findings indicate that limited access to diagnostic tests, inconsistent follow-up of MGUS/SMM patients, and a lack of interdepartmental coordination delay the diagnostic process. Conclusions: Multimodal tools for early diagnosis of MM. Educational campaigns to raise awareness of the disease, algorithms dedicated to routine care and novel technologies, including AI and big data analytics, and new biomarkers may serve this purpose, as well as genomic approaches to the premalignant MGUS stage. Full article
(This article belongs to the Special Issue Recent Advances in Hematology and Oncology)
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32 pages, 4514 KB  
Review
Blue Light and Green Light Fundus Autofluorescence, Complementary to Optical Coherence Tomography, in Age-Related Macular Degeneration Evaluation
by Antonia-Elena Ranetti, Horia Tudor Stanca, Mihnea Munteanu, Raluca Bievel Radulescu and Simona Stanca
Diagnostics 2025, 15(13), 1688; https://doi.org/10.3390/diagnostics15131688 - 2 Jul 2025
Viewed by 3186
Abstract
Background: Age-related macular degeneration (AMD) is one of the leading causes of permanent vision loss in the elderly, particularly in higher-income countries. Fundus autofluorescence (FAF) imaging is a widely used, non-invasive technique that complements structural imaging in the assessment of retinal pigment epithelium [...] Read more.
Background: Age-related macular degeneration (AMD) is one of the leading causes of permanent vision loss in the elderly, particularly in higher-income countries. Fundus autofluorescence (FAF) imaging is a widely used, non-invasive technique that complements structural imaging in the assessment of retinal pigment epithelium (RPE) integrity. While optical coherence tomography (OCT) remains the gold standard for retinal imaging due to its high-resolution cross-sectional visualization, FAF offers unique metabolic insights. Among the FAF modalities, blue light FAF (B-FAF) is more commonly employed, whereas green light FAF (G-FAF) provides subtly different image characteristics, particularly improved visualization and contrast in the central macula. Despite identical acquisition times and nearly indistinguishable workflows, G-FAF is notably underutilized in clinical practice. Objectives: This narrative review critically compares green and blue FAF in terms of their diagnostic utility relative to OCT, with a focus on lesion detectability, macular pigment interference, and clinical decision-making in retinal disorders. Methods: A comprehensive literature search was performed using the PubMed database for studies published prior to February 2025. The search utilized the keywords fundus autofluorescence and age-related macular degeneration. The primary focus was on short-wavelength FAF and its clinical utility in AMD, considering three aspects: diagnosis, follow-up, and prognosis. The OCT findings served as the reference standard for anatomical correlation and diagnostic accuracy. Results: Both FAF modalities correlated well with OCT in detecting RPE abnormalities. G-FAF demonstrated improved visibility of central lesions due to reduced masking by macular pigment and enhanced contrast in the macula. However, clinical preference remained skewed toward B-FAF, driven more by tradition and device default settings than by evidence-based superiority. G-FAF’s diagnostic potential remains underrecognized despite its comparable practicality and subtle imaging advantages specifically for AMD patients. AMD stages were accurately characterized, and relevant images were used to highlight the significance of G-FAF and B-FAF in the examination of AMD patients. Conclusions: While OCT remains the gold standard, FAF provides complementary information that can guide management strategy. Since G-FAF is functionally equivalent in acquisition, it offers slight advantages. Broader awareness and more frequent integration of G-FAF that could optimize multimodal imaging strategies, particularly in the intermediate stage, should be developed. Full article
(This article belongs to the Special Issue OCT and OCTA Assessment of Retinal and Choroidal Diseases)
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23 pages, 1370 KB  
Article
Machine Learning-Based Identification of Phonological Biomarkers for Speech Sound Disorders in Saudi Arabic-Speaking Children
by Deema F. Turki and Ahmad F. Turki
Diagnostics 2025, 15(11), 1401; https://doi.org/10.3390/diagnostics15111401 - 31 May 2025
Viewed by 1665
Abstract
Background/Objectives: This study investigates the application of machine learning (ML) techniques in diagnosing speech sound disorders (SSDs) in Saudi Arabic-speaking children, with a specific focus on phonological biomarkers, particularly Infrequent Variance (InfrVar), to improve diagnostic accuracy. SSDs are a significant concern in pediatric [...] Read more.
Background/Objectives: This study investigates the application of machine learning (ML) techniques in diagnosing speech sound disorders (SSDs) in Saudi Arabic-speaking children, with a specific focus on phonological biomarkers, particularly Infrequent Variance (InfrVar), to improve diagnostic accuracy. SSDs are a significant concern in pediatric speech pathology, affecting an estimated 10–15% of preschool-aged children worldwide. However, accurate diagnosis remains challenging, especially in linguistically diverse populations. Traditional diagnostic tools, such as the Percentage of Consonants Correct (PCC), often fail to capture subtle phonological variations. This study explores the potential of machine learning models to enhance diagnostic accuracy by incorporating culturally relevant phonological biomarkers like InfrVar, aiming to develop a more effective diagnostic approach for SSDs in Saudi Arabic-speaking children. Methods: Data from 235 Saudi Arabic-speaking children aged 2;6 to 5;11 years were analyzed using several machine learning models: Random Forest, Support Vector Machine (SVM), XGBoost, Logistic Regression, K-Nearest Neighbors, and Naïve Bayes. The dataset was used to classify speech patterns into four categories: Atypical, Typical Development (TD), Articulation, and Delay. Phonological features such as Phonological Variance (PhonVar), InfrVar, and Percentage of Consonants Correct (PCC) were used as key variables. SHapley Additive exPlanations (SHAP) analysis was employed to interpret the contributions of individual features to model predictions. Results: The XGBoost and Random Forest models demonstrated the highest performance, with an accuracy of 91.49% and an AUC of 99.14%. SHAP analysis revealed that articulation patterns and phonological patterns were the most influential features for distinguishing between Atypical and TD categories. The K-Means clustering approach identified four distinct subgroups based on speech development patterns: TD (46.61%), Articulation (25.42%), Atypical (18.64%), and Delay (9.32%). Conclusions: Machine learning models, particularly XGBoost and Random Forest, effectively classified speech development categories in Saudi Arabic-speaking children. This study highlights the importance of incorporating culturally specific phonological biomarkers like InfrVar and PhonVar to improve diagnostic precision for SSDs. These findings lay the groundwork for the development of AI-assisted diagnostic tools tailored to diverse linguistic contexts, enhancing early intervention strategies in pediatric speech pathology. Full article
(This article belongs to the Special Issue Artificial Intelligence for Health and Medicine)
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15 pages, 2169 KB  
Article
Fully Automated Assessment of Cardiac Chamber Volumes and Myocardial Mass on Non-Contrast Chest CT with a Deep Learning Model: Validation Against Cardiac MR
by Ramona Schmitt, Christopher L. Schlett, Jonathan I. Sperl, Saikiran Rapaka, Athira J. Jacob, Manuel Hein, Muhammad Taha Hagar, Philipp Ruile, Dirk Westermann, Martin Soschynski, Fabian Bamberg and Christopher Schuppert
Diagnostics 2024, 14(24), 2884; https://doi.org/10.3390/diagnostics14242884 - 21 Dec 2024
Cited by 1 | Viewed by 3737
Abstract
Background: To validate the automated quantification of cardiac chamber volumes and myocardial mass on non-contrast chest CT using cardiac MR (CMR) as a reference. Methods: We retrospectively included 53 consecutive patients who received non-contrast chest CT and CMR within three weeks. [...] Read more.
Background: To validate the automated quantification of cardiac chamber volumes and myocardial mass on non-contrast chest CT using cardiac MR (CMR) as a reference. Methods: We retrospectively included 53 consecutive patients who received non-contrast chest CT and CMR within three weeks. A deep learning model created cardiac segmentations on axial soft-tissue reconstructions from CT, covering all four cardiac chambers and the left ventricular myocardium. Segmentations on CMR cine short-axis and long-axis images served as a reference. Standard estimates of diagnostic accuracy were calculated for ventricular volumes at end-diastole and end-systole (LVEDV, LVESV, RVEDV, RVESV), left ventricular mass (LVM), and atrial volumes (LA, RA) at ventricular end-diastole. A qualitative assessment noted segmentation issues. Results: The deep learning model generated CT measurements for 52 of the 53 patients (98%). Based on CMR measurements, the average LVEDV was 166 ± 64 mL, RVEDV was 144 ± 51 mL, and LVM was 115 ± 39 g. The CT measurements correlated well with CMR measurements for LVEDV, LVESV, and LVM (ICC = 0.85, ICC = 0.84, and ICC = 0.91; all p < 0.001) and RVEDV and RVESV (ICC = 0.79 and ICC= 0.78; both p < 0.001), and moderately well with LA and RA (ICC = 0.74 and ICC = 0.61; both p < 0.001). Absolute agreements likewise favored LVEDV, LVM, and RVEDV. ECG-gating did not relevantly influence the results. The CT results correctly identified 7/15 LV and 1/1 RV as dilated (one and six false positives, respectively). Major qualitative issues were found in three cases (6%). Conclusions: Automated cardiac chamber volume and myocardial mass quantification on non-contrast chest CT produced viable measurements in this retrospective sample. Relevance Statement: An automated cardiac assessment on non-contrast chest CT provides quantitative morphological data on the heart, enabling a preliminary organ evaluation that aids in incidentally identifying at-risk patients who may benefit from a more targeted diagnostic workup. Full article
(This article belongs to the Special Issue Cardiothoracic Imaging: Diagnostics and Modern Techniques—2nd Edition)
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22 pages, 12690 KB  
Review
Patellar Non-Traumatic Pathologies: A Pictorial Review of Radiologic Findings
by Zahra Masroori, Sara Haseli, Elahe Abbaspour, Alireza Pouramini, Arash Azhideh, Marjan Fathi, Fatemeh Kafi and Majid Chalian
Diagnostics 2024, 14(24), 2828; https://doi.org/10.3390/diagnostics14242828 - 16 Dec 2024
Cited by 2 | Viewed by 7492
Abstract
Patellar pathologies are a common cause of knee dysfunction, with Patellofemoral Pain Syndrome (PFPS) alone responsible for 25% of knee-related visits to sports medicine clinics. Non-traumatic conditions, while often overlooked, can also lead to significant discomfort and functional limitations, highlighting the importance of [...] Read more.
Patellar pathologies are a common cause of knee dysfunction, with Patellofemoral Pain Syndrome (PFPS) alone responsible for 25% of knee-related visits to sports medicine clinics. Non-traumatic conditions, while often overlooked, can also lead to significant discomfort and functional limitations, highlighting the importance of accurate and timely diagnosis for effective management and prevention of complications. This pictorial review examines the radiologic characteristics of various non-traumatic patellar disorders, focusing on imaging modalities such as radiography, computed tomography (CT), and magnetic resonance imaging (MRI). Key diagnostic markers, including patellar tilt, tibial tuberosity–trochlear groove distance (TT-TG), and congruence angle (CA), are discussed for their significance in non-traumatic pathology identification. Furthermore, this review highlights specific radiologic features for a range of non-traumatic patellar conditions, including patellar tendinopathy, chondromalacia patellae, and trochlear dysplasia, emphasizing how distinct radiologic findings facilitate precise diagnosis and clinical assessment. Ultimately, it provides a practical guide for clinicians in diagnosing non-traumatic patellar pathologies through a comprehensive review of key radiologic features while also discussing advancements in imaging technologies and management strategies to support accurate diagnosis and effective clinical decision-making. Full article
(This article belongs to the Special Issue An Update on Radiological Diagnosis in 2024)
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16 pages, 347 KB  
Article
Diagnostic Performance of Red Blood Cell Indices in the Differential Diagnosis of Iron Deficiency Anemia and the Thalassemia Trait in Chile: A Retrospective Study
by Mario Balcázar-Villarroel, Angélica Mancilla-Uribe, Sandra Navia-León, Florencia Carmine, Katherine Birditt and Cristian Sandoval
Diagnostics 2024, 14(21), 2353; https://doi.org/10.3390/diagnostics14212353 - 22 Oct 2024
Cited by 1 | Viewed by 6892
Abstract
Background: Iron deficiency anemia (IDA) and the β-thalassemia trait (BTT) are two main causes of hypochromic–microcytic anemia worldwide. Researchers have described many red blood cell (RBC) indices as screening tests for presumptive differentiation, based on differences observed in complete blood count (CBC) data [...] Read more.
Background: Iron deficiency anemia (IDA) and the β-thalassemia trait (BTT) are two main causes of hypochromic–microcytic anemia worldwide. Researchers have described many red blood cell (RBC) indices as screening tests for presumptive differentiation, based on differences observed in complete blood count (CBC) data for each condition. There are few BTT reports in Chile, and neither laboratories nor clinical staff have widely used these indices. Objective: The objective of this study was to evaluate the diagnostic performance of 29 RBC indices in 182 patients (51 BTT and 131 IDA) and compare CBC results in both groups. Methods: A retrospective search was carried out in the Laboratory Information System between January 2021 and February 2024 to collect results from CBC, and 29 RBC indices were calculated for each patient. Then, sensitivity, specificity, positive predictive value, negative predictive value, Youden’s index, positive likelihood ratio, negative likelihood ratio, and diagnostic accuracy were calculated using MedCalc©. Results: The Green and King, Wongprachum, and Keikhaei indices showed the best discriminatory power with Youden index values of 0.923, 0.908, and 0.896, respectively, and significant differences were observed in all CBC parameters between BTT and IDA patients (p < 0.001). Conclusions: The Green and King, Wongprachum, and Keikhaei indices showed the best performance; therefore, they can be used as screening for the differential diagnosis between BTT and IDA in order to improve diagnosis given the important therapeutic and epidemiological implications. In this way, clinical laboratories could have a main role in the investigation of these patients. Full article
(This article belongs to the Special Issue Diagnosis and Management of Non-malignant Hematological Disease)
11 pages, 883 KB  
Review
The Role of Endoscopic Ultrasound-Guided Shear Wave Elastography in Pancreatic Diseases
by Yazan Abboud and Srinivas Gaddam
Diagnostics 2024, 14(20), 2329; https://doi.org/10.3390/diagnostics14202329 - 19 Oct 2024
Cited by 4 | Viewed by 5290
Abstract
Elastography is a non-invasive imaging modality that has been developed for the evaluation of the stiffness of various organs. It is categorized into two main types: strain elastography and shear wave elastography. While strain elastography offers valuable information on the mechanical properties of [...] Read more.
Elastography is a non-invasive imaging modality that has been developed for the evaluation of the stiffness of various organs. It is categorized into two main types: strain elastography and shear wave elastography. While strain elastography offers valuable information on the mechanical properties of the organ being studied, it is limited by the qualitative nature of its measurements and its reliance on operator skills. On the other hand, shear wave elastography overcomes these limitations as it provides a quantitative assessment of tissue stiffness, offers more reproducibility, and is less operator-dependent. Endoscopic ultrasound-guided shear wave elastography (EUS-SWE) is an emerging technique that overcomes the limitations of transabdominal ultrasound in the evaluation of the pancreas. A growing body of literature has demonstrated its safety and feasibility in the evaluation of pancreatic parenchyma. This article provides a comprehensive review of the current state of the literature on EUS-SWE, including its technical aspects, clinical applications in the evaluation of various pancreatic conditions, technological limitations, and future directions. Full article
(This article belongs to the Special Issue Advances in Diagnosis and Treatment of Digestive Disease Using Endoscopic Imagine and Endoscopic Ultrasound)
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20 pages, 1508 KB  
Review
Novel Biomarkers for Early Detection of Hepatocellular Carcinoma
by Abdelrahman M. Attia, Mohammad Saeid Rezaee-Zavareh, Soo Young Hwang, Naomy Kim, Hasmik Adetyan, Tamar Yalda, Pin-Jung Chen, Ekaterina K. Koltsova and Ju Dong Yang
Diagnostics 2024, 14(20), 2278; https://doi.org/10.3390/diagnostics14202278 - 13 Oct 2024
Cited by 16 | Viewed by 9228
Abstract
Hepatocellular carcinoma (HCC) is a leading cause of cancer mortality globally. Most patients present with late diagnosis, leading to poor prognosis. This narrative review explores novel biomarkers for early HCC detection. We conducted a comprehensive literature review analyzing protein, circulating nucleic acid, metabolite, [...] Read more.
Hepatocellular carcinoma (HCC) is a leading cause of cancer mortality globally. Most patients present with late diagnosis, leading to poor prognosis. This narrative review explores novel biomarkers for early HCC detection. We conducted a comprehensive literature review analyzing protein, circulating nucleic acid, metabolite, and quantitative proteomics-based biomarkers, evaluating the advantages and limitations of each approach. While established markers like alpha-fetoprotein (AFP), des-gamma-carboxy prothrombin, and AFP-L3 remain relevant, promising candidates include circulating tumor DNA, microRNAs, long noncoding RNAs, extracellular vesicle, and metabolomic biomarkers. Multi-biomarker panels like the GALAD score, Oncoguard, and Helio liver test show promise for improved diagnostic accuracy. Non-invasive approaches like urine and gut microbiome analysis are also emerging possibilities. Integrating these novel biomarkers with current screening protocols holds significant potential for earlier HCC detection and improved patient outcomes. Future research should explore multi-biomarker panels, omics technologies, and artificial intelligence to further enhance early HCC diagnosis and management. Full article
(This article belongs to the Special Issue New Insights into Diagnosis and Prevention of Hepatocellular Carcinoma (HCC))
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16 pages, 2884 KB  
Review
New Insights into the Pathophysiology of Coronary Artery Aneurysms
by Iris Bararu-Bojan, Oana-Viola Badulescu, Minerva Codruta Badescu, Maria Cristina Vladeanu, Carmen Elena Plesoianu, Andrei Bojan, Dan Iliescu-Halitchi, Razvan Tudor, Bogdan Huzum, Otilia Elena Frasinariua and Manuela Ciocoiu
Diagnostics 2024, 14(19), 2167; https://doi.org/10.3390/diagnostics14192167 - 29 Sep 2024
Cited by 3 | Viewed by 5910
Abstract
Coronary aneurysms are typically defined as sections of a coronary artery where the diameter is more than 1.5 times that of an adjacent normal segment. In rare circumstances, these aneurysms can become exceedingly large, leading to the classification of giant coronary artery aneurysms. [...] Read more.
Coronary aneurysms are typically defined as sections of a coronary artery where the diameter is more than 1.5 times that of an adjacent normal segment. In rare circumstances, these aneurysms can become exceedingly large, leading to the classification of giant coronary artery aneurysms. Despite their occurrence, there is no clear consensus on the precise definition of giant coronary artery aneurysms, and their etiology remains somewhat ambiguous. Numerous potential causes have been suggested, with atherosclerosis being the most prevalent in adults, accounting for up to 50% of cases. In pediatric populations, Kawasaki disease and Takayasu arteritis are the primary causes. Although often discovered incidentally, coronary artery aneurysms can lead to severe complications. These complications include local thrombosis, distal embolization, rupture, and vasospasm, which can result in ischemia, heart failure, and arrhythmias. The optimal approach to medical, interventional, or surgical management of these aneurysms is still under debate and requires further clarification. This literature review aims to consolidate current knowledge regarding coronary artery aneurysms’ pathophysiology, emphasizing their definition, causes, complications, and treatment strategies. Recent research has begun to explore the molecular mechanisms involved in the formation and progression of coronary artery aneurysms. Various molecules, such as matrix metalloproteinases (MMPs), inflammatory cytokines, and growth factors, play crucial roles in the degradation of the extracellular matrix and the remodeling of vascular walls. Elevated levels of MMPs, particularly MMP-9, have been associated with the weakening of the arterial wall, contributing to aneurysm development. Inflammatory cytokines such as tumor necrosis factor-alpha (TNF-α) and interleukins (IL-1β and IL-6) have been implicated in promoting inflammatory responses that further degrade vascular integrity. Additionally, growth factors such as vascular endothelial growth factor (VEGF) may influence angiogenesis and vascular remodeling processes. Understanding these molecular pathways is essential for developing targeted therapies aimed at preventing the progression of coronary artery aneurysms and improving patient outcomes. Full article
(This article belongs to the Special Issue Vascular Malformations: Diagnosis and Management)
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17 pages, 3050 KB  
Review
Role of Intestinal Ultrasound for IBD Care: A Practical Approach
by Joerg C. Hoffmann and Tobias Ungewitter
Diagnostics 2024, 14(15), 1639; https://doi.org/10.3390/diagnostics14151639 - 30 Jul 2024
Cited by 6 | Viewed by 6538
Abstract
Intestinal ultrasound (IUS) has recently become the imaging technique of choice for patients with different types of intestinal inflammation. IUS has a high sensitivity, specificity, positive predictive value, and negative predictive value when diagnosing Crohn’s disease or ulcerative colitis. Further, it is now [...] Read more.
Intestinal ultrasound (IUS) has recently become the imaging technique of choice for patients with different types of intestinal inflammation. IUS has a high sensitivity, specificity, positive predictive value, and negative predictive value when diagnosing Crohn’s disease or ulcerative colitis. Further, it is now the preferred imaging modality for routine IBD reevaluations because of its non-invasiveness, cost-effectiveness, availability (at least in Europe), and reproducibility in all age groups. However, the clinical success of IUS requires IUS training for doctors and technicians who perform IUS with a standardised description of ultrasound findings of the terminal ileum and entire colon. Complications such as abscess formation, fistulae, and stenosis can be detected by either conventional IUS or contrast-enhanced ultrasound (CEUS). Lately, several disease activity scores have been proposed for Crohn’s disease, postoperative Crohn’s disease, and ulcerative colitis both in adults (including elderly) and in children. IUS was successfully used in randomised clinical trials in order to measure the treatment response. Therefore, IUS now plays a central role in clinical decision making. Full article
(This article belongs to the Special Issue Diagnostic Procedures for Inflammatory Bowel Disease: Laboratory, Endoscopy, Pathology, Imaging and Beyond)
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12 pages, 223 KB  
Review
A Review of Current Evidence for the Use of Steroids in the Medical Intensive Care Unit
by Patrick Jenkins, Cory Cross, Tony Abdo, Houssein Youness and Jean Keddissi
Diagnostics 2024, 14(14), 1565; https://doi.org/10.3390/diagnostics14141565 - 19 Jul 2024
Cited by 6 | Viewed by 10632
Abstract
Systemic steroids are frequently used in critically ill patients for their anti-inflammatory properties. Potential benefits of these agents should be balanced against their known side effects. In this paper, we review trials assessing the use of systemic steroids in common conditions requiring admission [...] Read more.
Systemic steroids are frequently used in critically ill patients for their anti-inflammatory properties. Potential benefits of these agents should be balanced against their known side effects. In this paper, we review trials assessing the use of systemic steroids in common conditions requiring admission to the intensive care unit. These include septic shock, the acute respiratory distress syndrome, severe pneumonia, COVID-19, and hypercapnic respiratory failure due to chronic obstructive pulmonary disease. We will mainly focus on well-conducted randomized controlled trials to determine whether steroids should be administered to critically ill patients presenting with these conditions. Full article
(This article belongs to the Special Issue Pulmonary Disease: Diagnosis and Management)
20 pages, 4192 KB  
Systematic Review
Liquid Biopsies Based on Cell-Free DNA Integrity as a Biomarker for Cancer Diagnosis: A Meta-Analysis
by Ana María Rodríguez-Ces, Óscar Rapado-González, Ángel Salgado-Barreira, María Arminda Santos, Carlos Aroso, Ana Sofia Vinhas, Rafael López-López and María Mercedes Suárez-Cunqueiro
Diagnostics 2024, 14(14), 1465; https://doi.org/10.3390/diagnostics14141465 - 9 Jul 2024
Cited by 5 | Viewed by 3079
Abstract
Liquid biopsies have been identified as a viable source of cancer biomarkers. We aim to evaluate the diagnostic accuracy of cell-free DNA integrity (cfDI) in liquid biopsies for cancer. A comprehensive literature search was conducted through PubMed, Embase, Web of Science, and Cochrane [...] Read more.
Liquid biopsies have been identified as a viable source of cancer biomarkers. We aim to evaluate the diagnostic accuracy of cell-free DNA integrity (cfDI) in liquid biopsies for cancer. A comprehensive literature search was conducted through PubMed, Embase, Web of Science, and Cochrane Library up to June 2024. Seventy-two study units from forty-six studies, comprising 4286 cancer patients, were identified and evaluated. The Quality Assessment for Studies of Diagnostic Accuracy-2 (QUADAS-2) was used to assess study quality. Meta-regression analysis was employed to investigate the underlying factors contributing to heterogeneity, alongside an evaluation of publication bias. The bivariate random-effect model was utilized to compute the primary diagnostic outcomes and their corresponding 95% confidence intervals (CIs). The pooled sensitivity, specificity, and positive and negative likelihood ratios of cfDI in cancer diagnosis were 0.70 and 0.77, 3.26 and 0.34, respectively. The overall area under the curve was 0.84, with a diagnostic odds ratio of 10.63. This meta-analysis suggested that the cfDI index has a promising potential as a non-invasive and accurate diagnostic tool for cancer. Study registration: The study was registered at PROSPERO (reference No. CRD42021276290). Full article
(This article belongs to the Special Issue Emerging Biomarkers of Clinical Diagnosis)
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18 pages, 5069 KB  
Review
Setting the Standards: Neonatal Lung Ultrasound in Clinical Practice
by Yogen Singh, Svetlana Dauengauer-Kirliene and Nadya Yousef
Diagnostics 2024, 14(13), 1413; https://doi.org/10.3390/diagnostics14131413 - 2 Jul 2024
Cited by 6 | Viewed by 8201
Abstract
The use of lung ultrasonography in neonates is increasing at a very fast rate. Evidence-based guidelines on the use of lung ultrasound (LU) in neonates and children have been published and well received across the world. However, there remains a lack of standardized [...] Read more.
The use of lung ultrasonography in neonates is increasing at a very fast rate. Evidence-based guidelines on the use of lung ultrasound (LU) in neonates and children have been published and well received across the world. However, there remains a lack of standardized curriculum for lung ultrasound training and standards for its application at the bedside. This article focuses on providing a standardized approach to the application of lung ultrasonography in neonates for the common neonatal conditions and how it can be integrated into bedside clinical decision-making. Full article
(This article belongs to the Special Issue Ultrasound Imaging in Medicine in 2024)
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14 pages, 3276 KB  
Review
Clinical Implications and Management of Spontaneous Portosystemic Shunts in Liver Cirrhosis
by Simona Juncu, Horia Minea, Irina Girleanu, Laura Huiban, Cristina Muzica, Stefan Chiriac, Sergiu Timofeiov, Florin Mihai, Camelia Cojocariu, Carol Stanciu, Anca Trifan and Ana-Maria Singeap
Diagnostics 2024, 14(13), 1372; https://doi.org/10.3390/diagnostics14131372 - 28 Jun 2024
Cited by 8 | Viewed by 7806
Abstract
Portal hypertension from chronic liver disease leads to the formation of collateral blood vessels called spontaneous portosystemic shunts (SPSS). These shunts may form from existing vessels or through neo-angiogenesis. Their location affects clinical outcomes due to varying risks and complications. This review summarizes [...] Read more.
Portal hypertension from chronic liver disease leads to the formation of collateral blood vessels called spontaneous portosystemic shunts (SPSS). These shunts may form from existing vessels or through neo-angiogenesis. Their location affects clinical outcomes due to varying risks and complications. This review summarizes current knowledge on SPSS, covering their clinical impact and management strategies. Recent data suggest that SPSS increases the risk of variceal bleeding, regardless of shunt size. The size of the shunt is crucial in the rising incidence of hepatic encephalopathy (HE) linked to SPSS. It also increases the risk of portopulmonary hypertension and portal vein thrombosis. Detecting and assessing SPSS rely on computed tomography (CT) and magnetic resonance imaging. CT enables precise measurements and the prediction of cirrhosis progression. Management focuses on liver disease progression and SPSS-related complications, like HE, variceal bleeding, and portopulmonary hypertension. Interventional radiology techniques such as balloon-occluded, plug-assisted, and coil-assisted retrograde transvenous obliteration play a pivotal role. Surgical options are rare but are considered when other methods fail. Liver transplantation (LT) often resolves SPSS. Intraoperative SPSS ligation is still recommended in patients at high risk for developing HE or graft hypoperfusion. Full article
(This article belongs to the Special Issue Diagnosis and Management of Liver Cirrhosis and Portal Hypertension)
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12 pages, 254 KB  
Article
Genetic Insights and Neonatal Outcomes in Preeclampsia and Eclampsia: A Detailed Analysis of the RS5707 Genotype
by Flavius George Socol, Elena Silvia Bernad, Marius Craina, Simona-Alina Abu-Awwad, Brenda-Cristiana Bernad, Ioana Denisa Socol, Simona Sorina Farcas, Ahmed Abu-Awwad and Nicoleta Ioana Andreescu
Diagnostics 2024, 14(13), 1366; https://doi.org/10.3390/diagnostics14131366 - 27 Jun 2024
Cited by 2 | Viewed by 2791
Abstract
Background: Preeclampsia (PE) and eclampsia (E) are severe pregnancy complications with significant maternal and neonatal health impacts. This study explores the association of the rs5707 polymorphism in the renin-angiotensin system (RAS) with PE/E and related neonatal outcomes. Materials and Methods: We conducted a [...] Read more.
Background: Preeclampsia (PE) and eclampsia (E) are severe pregnancy complications with significant maternal and neonatal health impacts. This study explores the association of the rs5707 polymorphism in the renin-angiotensin system (RAS) with PE/E and related neonatal outcomes. Materials and Methods: We conducted a cross-sectional study involving 400 mother–newborn dyads at the “Pius Brinzeu” Emergency Clinical Hospital Timisoara. Participants were divided into a control group (254 normotensive women) and a PE/E group (146 women with PE/E). Genotyping for the rs5707 polymorphism was performed using real-time PCR, and statistical analyses assessed associations with maternal body mass index (BMI) and neonatal outcomes. Results: The AA genotype of rs5707 was significantly associated with a reduced risk of PE/E and more favorable neonatal outcomes, including higher Apgar scores, greater birth weights, and longer gestational ages. Conversely, the AC genotype correlated with increased maternal BMI and adverse neonatal outcomes. Odds ratios highlighted the protective effect of the AA genotype against PE/E and the increased risk associated with the AC genotype. Conclusions: This study revealed the critical role of the rs5707 polymorphism in PE/E development and neonatal health. Genetic screening for rs5707 could enhance early identification and personalized intervention strategies, improving outcomes for both mothers and neonates. Further research is needed to validate these findings across diverse populations and to uncover the underlying mechanisms. Full article
(This article belongs to the Special Issue Editorial Board Members' Collection Series: Advances in Gynecology and Obstetrics)
9 pages, 812 KB  
Article
Real-Life Experience on the Effect of SGLT2 Inhibitors vs. Finerenone vs. Combination on Albuminuria in Chronic Kidney Disease
by Mohamad Hanouneh, Dustin Le, Bernard G. Jaar, Christina Tamargo and C. Elena Cervantes
Diagnostics 2024, 14(13), 1357; https://doi.org/10.3390/diagnostics14131357 - 26 Jun 2024
Cited by 5 | Viewed by 9247
Abstract
Background: There have been several recent advances in the care of patients with chronic kidney disease (CKD), including the use of sodium glucose cotransporter 2 (SGLT2) inhibitors and selective mineralocorticoid receptor antagonists (MRAs). There are very few data reporting the outcomes of these [...] Read more.
Background: There have been several recent advances in the care of patients with chronic kidney disease (CKD), including the use of sodium glucose cotransporter 2 (SGLT2) inhibitors and selective mineralocorticoid receptor antagonists (MRAs). There are very few data reporting the outcomes of these treatments in real-world experience. The aim of this retrospective study is to report the effects of SGLT2 inhibitors, finerenone, and their combination in CKD patients in our community-based setting. Methods: Ninety-eight patients with CKD with an estimated glomerular filtration rate (eGFR) between 25 and 90 mL/min per 1.73 m2 and a urine albumin-to-creatinine ratio (UACR) ≥ 30 mg/g were included. Patients were divided into three groups: two monotherapy groups of SGLT2 inhibitors or finerenone and a third combination group of therapy with SGLT2 inhibitors for the first 4 months and SGLT2 inhibitors and finerenone subsequently. The primary outcomes were the timing and percentage of patients achieving a >50% reduction in UACR from baseline. Results: Group 1 comprised 52 patients on SGLT2i, group 2 had 22 patients on finerenone, and group 3 had 24 patients on combination therapy. The baseline median UACR and mean eGFR were 513 mg/g and 47.9 mL/min per 1.73 m2 in group 1, 548.0 mg/g and 50.5 mL/min per 1.73 m2 in group 2, and 800 mg/g and 60 mL/min per 1.73 m2 in group 3. At baseline, 71 (72.4%) patients were on the angiotensin-converting enzyme inhibitor (ACEi) or the angiotensin receptor blocker (ARB), and 78 (79.5%) patients had type 2 diabetes. After 8 months of follow-up, a >50% decrease in albuminuria was achieved in 96% of patients in group 3, compared to 50% in group 1 and 59% in group 2 (p-values were <0.01 and <0.01, respectively). There was a statistically but not clinically significant change in mean potassium levels in group 2 (+0.4 mmol/L) compared to either group 1 (0.0 mmol/L with p-value: <0.01) or group 3 (−0.01 mmol/L with p-value: <0.01). However, there was no difference in potassium levels when comparing groups 1 and 3. At the end of the follow-up, the average difference in eGFR was −3.4 (8.8), −5.3(10.1), and −7.8 (11.2) mL/min per 1.73 m2 in groups 1, 2, and 3, respectively, without a statistically significant difference between groups. Conclusions: In this real-world experience in our community setting, the combination of SGLT2 inhibitors and finerenone in our adult patients with CKD was associated with a very significant and clinically relevant reduction in UACR, without an increased risk of hyperkalemia. Combination therapy of SGLT2 inhibitor and finerenone regarding background use of ACEi/ARB is feasible and should be encouraged for further albuminuria reductions in CKD patients. Full article
(This article belongs to the Special Issue Kidney Disease: Biomarkers, Diagnosis, and Prognosis: 3rd Edition)
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23 pages, 6903 KB  
Review
Role of Clinical and Multimodality Neuroimaging in the Evaluation of Brain Death/Death by Neurologic Criteria and Recent Highlights from 2023 Updated Guidelines
by Pokhraj Prakashchandra Suthar, Miral D. Jhaveri, Avin Kounsal, Lillian D. Pierce and Jagadeesh S. Singh
Diagnostics 2024, 14(12), 1287; https://doi.org/10.3390/diagnostics14121287 - 18 Jun 2024
Cited by 6 | Viewed by 6243
Abstract
Purpose of Review: This review aims to provide a comprehensive overview of the diagnosis of brain death/death by neurologic criteria (BD/DNC) by emphasizing the clinical criteria established by the American Academy of Neurology (AAN) in light of their updated guidelines released in 2023. [...] Read more.
Purpose of Review: This review aims to provide a comprehensive overview of the diagnosis of brain death/death by neurologic criteria (BD/DNC) by emphasizing the clinical criteria established by the American Academy of Neurology (AAN) in light of their updated guidelines released in 2023. In this review, we will focus on the current implementation of ancillary tests including the catheter cerebral angiogram, nuclear scintigraphy, and transcranial Doppler, which provide support in diagnoses when clinical examination and apnea tests are inconclusive. Finally, we will also provide examples to discuss the implementation of certain imaging studies in the context of diagnosing BD/DNC. Recent Findings: Recent developments in the field of neurology have emphasized the importance of clinical criteria for diagnosing BD/DNC, with the AAN providing clear updated guidelines that include coma, apnea, and the absence of brainstem reflexes. Current ancillary tests, including the catheter cerebral angiogram, nuclear scintigraphy, and transcranial Doppler play a crucial role in confirming BD/DNC when the clinical assessment is limited. The role of commonly used imaging studies including computed tomography and magnetic resonance angiographies of the brain as well as CT/MR perfusion studies will also be discussed in the context of these new guidelines. Summary: BD/DNC represents the permanent cessation of brain functions, including the brainstem. This review article provides the historical context, clinical criteria, and pathophysiology that goes into making this diagnosis. Additionally, it explores the various ancillary tests and selected imaging studies that are currently used to diagnose BD/DNC under the newly updated AAN guidelines. Understanding the evolution of how to effectively use these diagnostic tools is crucial for healthcare professionals who encounter these BD/DNC cases in their practice. Full article
(This article belongs to the Section Medical Imaging and Theranostics)
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13 pages, 2449 KB  
Article
Incidence of Carotid Blowout Syndrome in Patients with Head and Neck Cancer after Radiation Therapy: A Cohort Study
by Jian-Lin Jiang, Joseph Tung-Chieh Chang, Chih-Hua Yeh, Ting-Yu Chang, Bing-Shen Huang, Pi-Shan Sung, Chien-Yu Lin, Kang-Hsing Fan, Yi-Chia Wei and Chi-Hung Liu
Diagnostics 2024, 14(12), 1222; https://doi.org/10.3390/diagnostics14121222 - 9 Jun 2024
Cited by 2 | Viewed by 3522
Abstract
Carotid blowout syndrome (CBS) is a rare yet life-threatening complication that occurs after radiation therapy (RT). This study aimed to determine the incidence of CBS in patients with head and neck cancer (HNC) undergoing contemporary RT and to explore potential discrepancies in the [...] Read more.
Carotid blowout syndrome (CBS) is a rare yet life-threatening complication that occurs after radiation therapy (RT). This study aimed to determine the incidence of CBS in patients with head and neck cancer (HNC) undergoing contemporary RT and to explore potential discrepancies in the risk of CBS between nasopharyngeal cancer (NPC) and non-NPC patients. A total of 1084 patients with HNC who underwent RT between 2013 and 2023 were included in the study. All patients were under regular follow-ups at the radio-oncology department, and underwent annual contrast-enhanced computed tomography and/or magnetic resonance imaging for cancer recurrence surveillance. Experienced neuroradiologists and vascular neurologists reviewed the recruited patients’ images. Patients were further referred to the neurology department for radiation vasculopathy evaluation. The primary outcome of this study was CBS. Patients were categorized into NPC and non-NPC groups and survival analysis was employed to compare the CBS risk between the two groups. A review of the literature on CBS incidence was also conducted. Among the enrolled patients, the incidence of CBS in the HNC, NPC, and non-NPC groups was 0.8%, 0.9%, and 0.7%, respectively. Kaplan–Meier analysis revealed no significant difference between the NPC and non-NPC groups (p = 0.34). Combining the findings for our cohort with those of previous studies revealed that the cumulative incidence of CBS in patients with HNC is 5% (95% CI = 3–7%) after both surgery and RT, 4% (95% CI = 2–6%) after surgery alone, and 5% (95% CI = 3–7%) after RT alone. Our findings indicate a low incidence of CBS in patients with HNC undergoing contemporary RT. Patients with NPC may have a CBS risk close to that of non-NPC patients. However, the low incidence of CBS could be a potentially cause of selection bias and underestimation bias. Full article
(This article belongs to the Special Issue Clinical Diagnosis of Otorhinolaryngology)
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15 pages, 825 KB  
Article
Changes of Dissociative Properties of Hemoglobin in Patients with Chronic Kidney Disease
by Justyna Korus, Maria Wydro, Maciej Gołębiowski, Kornelia Krakowska, Paweł Poznański, Kinga Musiał, Andrzej Konieczny, Hanna Augustyniak-Bartosik, Jakub Stojanowski, Mariusz Andrzej Kusztal and Tomasz Gołębiowski
Diagnostics 2024, 14(12), 1219; https://doi.org/10.3390/diagnostics14121219 - 8 Jun 2024
Viewed by 2890
Abstract
Background: The ability of hemoglobin to bind and dissociate oxygen is crucial in delivering oxygen to tissues and is influenced by a range of physiological states, compensatory mechanisms, and pathological conditions. This may be illustrated by the oxyhemoglobin dissociation curve (ODC). The [...] Read more.
Background: The ability of hemoglobin to bind and dissociate oxygen is crucial in delivering oxygen to tissues and is influenced by a range of physiological states, compensatory mechanisms, and pathological conditions. This may be illustrated by the oxyhemoglobin dissociation curve (ODC). The key parameter for evaluating the oxygen affinity to hemoglobin is p50. The aim of this study was to evaluate the impact of hemodialysis on p50 in a group of patients with chronic kidney disease (CKD). An additional goal was to assess the correlation between p50 and the parameters of erythropoiesis, point-of-care testing (POCT), and other laboratory parameters. Methods: One hundred and eighty patients (106 male, 74 female), mean age 62.5 ± 17 years, with CKD stage G4 and G5 were enrolled in this cross-sectional study. Patients were divided into two groups, including 65 hemodialysis (HD) patients and 115 patients not receiving dialysis (non-HD). During the standard procedure of arteriovenous fistula creation, blood samples from the artery (A) and the vein (V) were taken for POCT. The causes of CKD, as well as demographic and comorbidity data, were obtained from medical records and direct interviews. Results: The weekly dose of erythropoietin was higher in HD patients than in non-HD patients (4914 ± 2253 UI vs. 403 ± 798 UI, p < 0.01), but hemoglobin levels did not differ between these groups. In the group of non-HD patients, more advanced metabolic acidosis (MA) was found, compared to the group with HD. In arterial and venosus blood samples, the non-HD group had significantly lower pH, pCO2 and HCO3−. This group had a higher proportion of individuals with MA with HCO3− < 22 mmol/L (42% vs. 24%, p < 0.01). The absolute difference of p50 in arterial and venous blood was determined using the formula Δp50 = (p50-A) − (p50-V). Δp50 was significantly higher in the HD group in comparison to non-HD (0.08 ± 2.05 mmHg vs. −0.66 ± 1.93 mmHg, p = 0,02). There was a negative correlation between pH and the p50 value in arterial (pH-A vs. p50-A, r = −0.56, p < 0.01) and venous blood (pH-V vs. p50-V, r = −0.45, p < 0.01). In non-HD patients, hemoglobin levels correlated negatively with p50 (r = −0.29, p < 0.01), whereas no significant relation was found in HD patients. Conclusions: The ODC in pre-dialysis CKD (non-HD) patients is shifted to the right due to MA, and this is an additional factor influencing erythropoiesis. Hemodialysis restores the natural differences in hemoglobin’s dissociation characteristics in the arterial and venous circulation. Full article
(This article belongs to the Special Issue Advances in Diagnostics of Chronic Kidney Disease)
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13 pages, 434 KB  
Review
The Challenge of Neuropsychiatric Systemic Lupus Erythematosus: From Symptoms to Therapeutic Strategies
by Veena Patel
Diagnostics 2024, 14(11), 1186; https://doi.org/10.3390/diagnostics14111186 - 5 Jun 2024
Cited by 13 | Viewed by 16600
Abstract
Systemic lupus erythematosus (SLE) is a chronic autoimmune condition that can seriously impair multiple organs including the nervous system, causing neuropsychiatric SLE (NPSLE), which encompasses a broad range of symptoms. Pathogenesis is not completely understood but is thought to involve inflammatory and vascular [...] Read more.
Systemic lupus erythematosus (SLE) is a chronic autoimmune condition that can seriously impair multiple organs including the nervous system, causing neuropsychiatric SLE (NPSLE), which encompasses a broad range of symptoms. Pathogenesis is not completely understood but is thought to involve inflammatory and vascular pathways. This comprehensive review discusses the complex nature and heterogeneity of NPSLE and the challenges in diagnosis and treatment that result from it. Diagnosis often requires a multidisciplinary approach with multiple assessments, including laboratory testing, imaging, and neuropsychological evaluations. Current treatments focus on managing symptoms through immunosuppressive and anti-thrombotic therapies tailored to the inflammatory or vascular nature of the specific NPSLE manifestations. This paper emphasizes the necessity for interdisciplinary approaches and further research to enhance diagnostic accuracy and treatment effectiveness. It also highlights the importance of understanding the underlying mechanisms of NPSLE to develop more targeted therapies, citing the need for high-quality studies and novel treatment agents. Full article
(This article belongs to the Special Issue Rheumatic Diseases: Diagnosis and Management)
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15 pages, 2123 KB  
Article
Sodium–Glucose Cotransporter 2 Inhibitor Combined with Conventional Diuretics Ameliorate Body Fluid Retention without Excessive Plasma Volume Reduction
by Maki Asakura-Kinoshita, Takahiro Masuda, Kentaro Oka, Ken Ohara, Marina Miura, Masato Morinari, Kyohei Misawa, Yasuharu Miyazawa, Tetsu Akimoto, Kazuyuki Shimada and Daisuke Nagata
Diagnostics 2024, 14(11), 1194; https://doi.org/10.3390/diagnostics14111194 - 5 Jun 2024
Cited by 6 | Viewed by 5275
Abstract
We previously reported that sodium–glucose cotransporter 2 (SGLT2) inhibitors exert sustained fluid homeostatic actions through compensatory increases in osmotic diuresis-induced vasopressin secretion and fluid intake. However, SGLT2 inhibitors alone do not produce durable amelioration of fluid retention. In this study, we examined the [...] Read more.
We previously reported that sodium–glucose cotransporter 2 (SGLT2) inhibitors exert sustained fluid homeostatic actions through compensatory increases in osmotic diuresis-induced vasopressin secretion and fluid intake. However, SGLT2 inhibitors alone do not produce durable amelioration of fluid retention. In this study, we examined the comparative effects of the SGLT2 inhibitor dapagliflozin (SGLT2i group, n = 53) and the combined use of dapagliflozin and conventional diuretics, including loop diuretics and/or thiazides (SGLT2i + diuretic group, n = 23), on serum copeptin, a stable, sensitive, and simple surrogate marker of vasopressin release and body fluid status. After six months of treatment, the change in copeptin was significantly lower in the SGLT2i + diuretic group than in the SGLT2i group (−1.4 ± 31.5% vs. 31.5 ± 56.3%, p = 0.0153). The change in the estimated plasma volume calculated using the Strauss formula was not significantly different between the two groups. Contrastingly, changes in interstitial fluid, extracellular water, intracellular water, and total body water were significantly lower in the SGLT2i + diuretic group than in the SGLT2i group. Changes in renin, aldosterone, and absolute epinephrine levels were not significantly different between the two groups. In conclusion, the combined use of the SGLT2 inhibitor dapagliflozin and conventional diuretics inhibited the increase in copeptin levels and remarkably ameliorated fluid retention without excessively reducing plasma volume and activating the renin–angiotensin–aldosterone and sympathetic nervous systems. Full article
(This article belongs to the Special Issue Kidney Disease: Biomarkers, Diagnosis, and Prognosis: 3rd Edition)
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12 pages, 505 KB  
Review
Pulmonary Hypertension and Hyperglycemia—Not a Sweet Combination
by Or Bruck and L. M. Pandit
Diagnostics 2024, 14(11), 1119; https://doi.org/10.3390/diagnostics14111119 - 28 May 2024
Cited by 2 | Viewed by 3426
Abstract
Hyperglycemia and pulmonary hypertension (PH) share common pathological pathways that lead to vascular dysfunction and resultant cardiovascular complications. These shared pathologic pathways involve endothelial dysfunction, inflammation, oxidative stress, and hormonal imbalances. Individuals with hyperglycemia or pulmonary hypertension also possess shared clinical factors that [...] Read more.
Hyperglycemia and pulmonary hypertension (PH) share common pathological pathways that lead to vascular dysfunction and resultant cardiovascular complications. These shared pathologic pathways involve endothelial dysfunction, inflammation, oxidative stress, and hormonal imbalances. Individuals with hyperglycemia or pulmonary hypertension also possess shared clinical factors that contribute to increased morbidity from both diseases. This review aims to explore the relationship between PH and hyperglycemia, highlighting the mechanisms underlying their association and discussing the clinical implications. Understanding these common pathologic and clinical factors will enable early detection for those at-risk for complications from both diseases, paving the way for improved research and targeted therapeutics. Full article
(This article belongs to the Special Issue Hyperglycemia in Respiratory Diseases—Impact and Challenges)
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12 pages, 8735 KB  
Article
The Value of Contrast-Enhanced Ultrasound (CEUS) in the Evaluation of Central Lung Cancer with Obstructive Atelectasis
by Ehsan Safai Zadeh, Katharina Paulina Huber, Christian Görg, Helmut Prosch and Hajo Findeisen
Diagnostics 2024, 14(10), 1051; https://doi.org/10.3390/diagnostics14101051 - 18 May 2024
Cited by 6 | Viewed by 5466
Abstract
Purpose: To assess the diagnostic performance of contrast-enhanced ultrasound (CEUS) alongside contrast-enhanced computed tomography (CECT) in evaluating central lung cancer (CLC). Materials and Methods: From 2006 to 2022, 54 patients with CLC and obstructive atelectasis (OAT) underwent standardized examinations using CEUS [...] Read more.
Purpose: To assess the diagnostic performance of contrast-enhanced ultrasound (CEUS) alongside contrast-enhanced computed tomography (CECT) in evaluating central lung cancer (CLC). Materials and Methods: From 2006 to 2022, 54 patients with CLC and obstructive atelectasis (OAT) underwent standardized examinations using CEUS in addition to CECT. The ability to differentiate CLC from atelectatic tissue in CECT and CEUS was categorized as distinguishable or indistinguishable. In CEUS, in distinguishable cases, the order of enhancement (time to enhancement) (OE; categorized as either an early pulmonary arterial [PA] pattern or a delayed bronchial arterial [BA] pattern of enhancement), the extent of enhancement (EE; marked or reduced), the homogeneity of enhancement (HE; homogeneous or inhomogeneous), and the decrease in enhancement (DE; rapid washout [<120 s] or late washout [≥120 s]) were evaluated. Results: The additional use of CEUS improved the diagnostic capability of CECT from 75.9% to 92.6% in differentiating a CLC from atelectatic tissue. The majority of CLC cases exhibited a BA pattern of enhancement (89.6%), an isoechoic reduced enhancement (91.7%), and a homogeneous enhancement (91.7%). Rapid DE was observed in 79.2% of cases. Conclusions: In cases of suspected CLC with obstructive atelectasis, the application of CEUS can be helpful in differentiating tumor from atelectatic tissue and in evaluating CLC. Full article
(This article belongs to the Special Issue Current Challenges and Perspectives of Ultrasound)
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21 pages, 4264 KB  
Review
Diagnostic Endoscopic Ultrasound (EUS) of the Luminal Gastrointestinal Tract
by Giovanna Impellizzeri, Giulio Donato, Claudio De Angelis and Nico Pagano
Diagnostics 2024, 14(10), 996; https://doi.org/10.3390/diagnostics14100996 - 11 May 2024
Cited by 6 | Viewed by 8229
Abstract
The purpose of this review is to focus on the diagnostic endoscopic ultrasound of the gastrointestinal tract. In the last decades, EUS has gained a central role in the staging of epithelial and sub-epithelial lesions of the gastrointestinal tract. With the evolution of [...] Read more.
The purpose of this review is to focus on the diagnostic endoscopic ultrasound of the gastrointestinal tract. In the last decades, EUS has gained a central role in the staging of epithelial and sub-epithelial lesions of the gastrointestinal tract. With the evolution of imaging, the position of EUS in the diagnostic work-up and the staging flow-chart has continuously changed with two extreme positions: some gastroenterologists think that EUS is absolutely indispensable, and some think it is utterly useless. The truth is, as always, somewhere in between the two extremes. Analyzing the most up-to-date and strong evidence, we will try to give EUS the correct position in our daily practice. Full article
(This article belongs to the Special Issue Endoscopic Ultrasound (EUS) in Gastrointestinal Diseases)
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10 pages, 779 KB  
Review
A Review of Endobronchial-Ultrasound-Guided Transbronchial Intranodal Forceps Biopsy and Cryobiopsy
by Michel Chalhoub, Bino Joseph and Sudeep Acharya
Diagnostics 2024, 14(9), 965; https://doi.org/10.3390/diagnostics14090965 - 6 May 2024
Cited by 9 | Viewed by 6157
Abstract
Benign and malignant mediastinal lesions are not infrequently encountered in clinical practice. Mediastinoscopy has long been considered the gold standard in evaluating mediastinal pathology. Since its introduction into clinical practice, endobronchial-ultrasonography-guided transbronchial fine needle aspiration (EBUS-TBNA) has replaced mediastinoscopy as the initial procedure [...] Read more.
Benign and malignant mediastinal lesions are not infrequently encountered in clinical practice. Mediastinoscopy has long been considered the gold standard in evaluating mediastinal pathology. Since its introduction into clinical practice, endobronchial-ultrasonography-guided transbronchial fine needle aspiration (EBUS-TBNA) has replaced mediastinoscopy as the initial procedure of choice to evaluate mediastinal lesions and to stage lung cancer. Its diagnostic yield in benign mediastinal lesions and less common malignancies, however, has remained limited. This has led different proceduralists to investigate additional procedures to improve the diagnostic yield of EBUS-TBNA. In recent years, different published reports concluded that the addition of EBUS-guided intranodal forceps biopsy (IFB) and transbronchial cryobiopsy (TBCB) to EBUS-TBNA increases the diagnostic yield especially in benign mediastinal lesions and uncommon mediastinal malignancies. The purpose of this review is to describe how EBUS-IFB and EBUS-TBCB are performed, to compare their diagnostic yields, and to discuss their limitations and their potential complications. In addition, the review will conclude with a proposed algorithm on how to incorporate EBUS-IFB and EBUS-TBCB into clinical practice. Full article
(This article belongs to the Special Issue Recent Advances in Diagnostic Bronchoscopy)
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