Diagnostics

11 pages, 1279 KiB

Open AccessArticle

Transfer of POCUS Skills of Anesthesia Trainees from the Simulation Laboratory to Clinical Practice: A Follow-Up Pilot Evaluation After ABC US Protocol Training

by Robert Simon, Cristina Petrișor, Constantin Bodolea, Oana Antal, Marta Băncișor, Orlanda Moldovan and Ion Cosmin Puia

Diagnostics 2025, 15(3), 354; https://doi.org/10.3390/diagnostics15030354 (registering DOI) - 3 Feb 2025

Abstract

Background/objectives: Point-of-care ultrasound (POCUS) in the intensive care unit (ICU) has gained much attention in the last few years as an alternative to the classic ways of assessing and diagnosing life-threatening conditions in critical patients. During the COVID-19 pandemic, we proposed a POCUS [...] Read more.

Background/objectives: Point-of-care ultrasound (POCUS) in the intensive care unit (ICU) has gained much attention in the last few years as an alternative to the classic ways of assessing and diagnosing life-threatening conditions in critical patients. During the COVID-19 pandemic, we proposed a POCUS protocol based on the airway, breathing, and circulation (ABC) approach to quickly evaluate and diagnose life-threatening diseases in critical patients with acute respiratory failure and shock, and later, we used it as a curriculum to teach POCUS to anesthesia and intensive care trainees. Methods: We developed an evaluation protocol where evaluators with experience in POCUS in critically ill patients had to assess the trainee’s ultrasound scan; this was based on the ABC protocol taught in the simulation laboratory and applied in a clinical setting at the bedside. Results: Statistically significant differences were observed in some categories evaluated regarding independence and diagnosis. Conclusion: Initial POCUS simulation-based training using an ABC POCUS protocol (that demonstrated good results in the simulation laboratory) is useful when transferring US skills to the bedside and is applicable in daily clinical practice with good results in terms of operator independence. Full article

(This article belongs to the Section Point-of-Care Diagnostics and Devices)

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38 pages, 855 KiB

Open AccessReview

Current and Evolving Concepts in the Management of Complex Regional Pain Syndrome: A Narrative Review

by Burcu Candan and Semih Gungor

Diagnostics 2025, 15(3), 353; https://doi.org/10.3390/diagnostics15030353 (registering DOI) - 3 Feb 2025

Abstract

Background/Objectives: Complex regional pain syndrome (CRPS) is characterized by severe pain and reduced functionality, which can significantly affect an individual’s quality of life. The current treatment of CRPS is challenging. However, recent advances in diagnostic and treatment methods show promise for improving [...] Read more.

Background/Objectives: Complex regional pain syndrome (CRPS) is characterized by severe pain and reduced functionality, which can significantly affect an individual’s quality of life. The current treatment of CRPS is challenging. However, recent advances in diagnostic and treatment methods show promise for improving patient outcomes. This review aims to place the question of CRPS in a broader context and highlight the objectives of the research for future directions in the management of CRPS. Methods: This study involved a comprehensive literature review. Results: Research has identified three primary pathophysiological pathways that may explain the clinical variability observed in CRPS: inflammatory mechanisms, vasomotor dysfunction, and maladaptive neuroplasticity. Investigations into these pathways have spurred the development of novel diagnostic and treatment strategies focused on N-Methyl-D-aspartate Receptor Antagonists (NMDA), Toll-like receptor 4 (TLR-4), α1 and α2 adrenoreceptors, as well as the identification of microRNA (miRNA) biomarkers. Treatment methods being explored include immune and glial-modulating agents, intravenous immunoglobulin (IVIG) therapy, plasma exchange therapy, and neuromodulation techniques. Additionally, there is ongoing debate regarding the efficacy of other treatments, such as free radical scavengers, alpha-lipoic acid (ALA), dimethyl fumarate (DMF), adenosine monophosphate-activated protein kinase (AMPK) activators such as metformin, and phosphodiesterase-5 inhibitors such as tadalafil. Conclusions: The controversies surrounding the mechanisms, diagnosis, and treatment of CRPS have prompted researchers to investigate new approaches aimed at enhancing understanding and management of the condition, with the goal of alleviating symptoms and reducing associated disabilities. Full article

(This article belongs to the Special Issue Musculoskeletal Disorders: Diagnosis, Management, and Rehabilitation)

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26 pages, 3982 KiB

Open AccessArticle

Building Better Deep Learning Models Through Dataset Fusion: A Case Study in Skin Cancer Classification with Hyperdatasets

by Panagiotis Georgiadis, Emmanouil V. Gkouvrikos, Eleni Vrochidou, Theofanis Kalampokas and George A. Papakostas

Diagnostics 2025, 15(3), 352; https://doi.org/10.3390/diagnostics15030352 (registering DOI) - 3 Feb 2025

Abstract

Background/Objectives: This work brings to light the importance of forming large training datasets with diverse images generated and proposes an image dataset merging application, namely, the Data Merger App, to streamline the management and synthesis of large-scale datasets. The Data Merger can recognize [...] Read more.

Background/Objectives: This work brings to light the importance of forming large training datasets with diverse images generated and proposes an image dataset merging application, namely, the Data Merger App, to streamline the management and synthesis of large-scale datasets. The Data Merger can recognize common classes across various datasets and provides tools to combine and organize them in a well-structured and easily accessible way. Methods: A case study is then presented, leveraging four different Convolutional Neural Network (CNN) models, VGG16, ResNet50, MobileNetV3-small, and DenseNet-161, and a Visual Transformer (ViT), to benchmark their performance to classify skin cancer images, when trained on single datasets and on enhanced hyperdatasets generated by the Data Merger App. Results: Extended experimental results indicated that enhanced hyperdatasets are efficient and able to improve the accuracies of classification models, whether the models are trained from scratch or by using Transfer Learning. Moreover, the ViT model was reported for higher classification accuracies compared to CNNs on datasets with a limited number of classes, reporting 91.87% accuracy for 9 classes, as well as in the case of enhanced hyperdatasets with multiple numbers of classes, reporting accuracy of 58% for 32 classes. Conclusions: In essence, this work demonstrates the great significance of data combination, as well as the utility value of the developed prototype web application as a critical tool for researchers and data scientists, enabling them to easily handle complex datasets, combine datasets into larger diverse versions, to further enhance the generalization ability of models and improve the quality and impact of their work. Full article

(This article belongs to the Special Issue Deep Learning in Medical and Biomedical Image Processing)

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13 pages, 526 KiB

Open AccessArticle

Effects of Dance-Based Aerobic Training on Frailty and Cognitive Function in Older Adults with Mild Cognitive Impairment: A Randomized Controlled Trial

by Marcelina Sánchez-Alcalá, Agustín Aibar-Almazán, María del Carmen Carcelén-Fraile, Yolanda Castellote-Caballero, Javier Cano-Sánchez, Alexander Achalandabaso-Ochoa, Juan Miguel Muñoz-Perete and Fidel Hita-Contreras

Diagnostics 2025, 15(3), 351; https://doi.org/10.3390/diagnostics15030351 (registering DOI) - 3 Feb 2025

Abstract

Background/Objectives: The purpose of this study has been to evaluate the effects of a dance-based aerobic training program on frailty, cognitive impairment, executive functions, and verbal fluency in older adults with mild cognitive impairment. Methods: Randomized clinical trial, whose sample was made up [...] Read more.

Background/Objectives: The purpose of this study has been to evaluate the effects of a dance-based aerobic training program on frailty, cognitive impairment, executive functions, and verbal fluency in older adults with mild cognitive impairment. Methods: Randomized clinical trial, whose sample was made up of 92 older adults, of which 47 performed rhythmic physical activity for 12 weeks. Data on frailty were collected through FRAIL, cognitive function through the Mini-Mental State Examination (MMSE), cognitive impairment through The Montreal Cognitive Assessment (MoCA), verbal fluency using the Isaac test, and executive functions with the Trail Making Test (TMT). All variables were measured before and after the intervention by an independent researcher blinded to the treatment. Results: Participants in the experimental group showed statistically significant improvements in frailty (Cohen’s d = 0.60), cognitive function (Cohen’s d = 0.98), cognitive impairment (Cohen’s d = 1.22), verbal fluency (Cohen’s d = 0.61) and executive functions (Cohen’s d = 0.64). Conclusions: This study demonstrated that a 12-week dance-based aerobic training program can significantly reduce frailty and improve cognitive abilities in older adults with mild cognitive impairment. These improvements suggest that the intervention is not only effective in terms of physical health, but also in promoting mental health and general well-being. Full article

(This article belongs to the Special Issue Risk Factors for Frailty in Older Adults)

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10 pages, 1118 KiB

Open AccessArticle

An Assessment of the Distribution and Prevalence of Benign Intraoral Pathologies

by Sinan Yasin Ertem and Furkan Uz

Diagnostics 2025, 15(3), 350; https://doi.org/10.3390/diagnostics15030350 (registering DOI) - 3 Feb 2025

Abstract

Objectives: The aim of this study is to evaluate the histopathological examinations of biopsy samples obtained from patients, and to determine the prevalence, age, and gender distribution of intraoral benign lesions. The study examines the distribution of all benign intraoral pathologies, including both [...] Read more.

Objectives: The aim of this study is to evaluate the histopathological examinations of biopsy samples obtained from patients, and to determine the prevalence, age, and gender distribution of intraoral benign lesions. The study examines the distribution of all benign intraoral pathologies, including both soft tissue and hard tissue lesions, through which the goal is to contribute to clinical diagnostic processes. Methods: The histopathological evaluation results of 235 patients who underwent biopsy between 2021 and 2024 were retrospectively analyzed. Out of 235 patients, 123 (52.34%) were female and 112 (47.66%) were male. Lesions were categorized into two groups: soft tissue lesions and intraosseous lesions. The frequency, gender distribution, and age ranges of these lesions were assessed. Lesions exhibiting dysplasia or malignancy were excluded from the study. Results: The most common benign intraoral lesion was identified as the radicular cyst, observed in 69 patients. The age range for radicular cysts varied from 8 to 80 years, with 30 cases in females and 39 in males. The most frequently encountered soft tissue lesion was traumatic fibroma, which constituted 25.33% (19 patients) of all soft tissue lesions. Traumatic fibromas were observed in patients aged between 12 and 62 years. In terms of overall prevalence among all benign intraoral pathological lesions, radicular cysts ranked first (29.36%), followed by periapical granulomas (15.31%), dentigerous cysts (11.06%), and traumatic fibromas (8.08%). The occurrence of soft tissue lesions was significantly higher in females (66.66%) compared to males (33.34%). Conclusions: There are no recent studies in the literature evaluating the prevalence and demographic distribution of intraoral benign lesions. The most common lesions diagnosed in the study are typically associated with inflammation and irritation. The most common hard tissue lesion was the radicular cyst, which was seen across a wide age range and in similar proportions in men and women. Among soft tissue lesions, traumatic fibroma was the most common, particularly in women, and was seen across a wide age range. In terms of gender distribution, soft tissue lesions were twice as common in women as in men. Full article

(This article belongs to the Special Issue Recent Updates on the Diagnosis of Dental and Oral Diseases, Second Edition)

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13 pages, 1454 KiB

Open AccessReview

Clinical Utility of Endoscopic Ultrasound (EUS) and Endobronchial Ultrasound (EBUS) in the Evaluation of Mediastinal Lymphadenopathy

by Dominique Béchade

Diagnostics 2025, 15(3), 349; https://doi.org/10.3390/diagnostics15030349 (registering DOI) - 3 Feb 2025

Abstract

In recent years, the combination of endobronchial ultrasound and endoscopic ultrasound has enabled “medical exploration” of the mediastinum for the study of mediastinal lymphadenopathies. These techniques are particularly important for the diagnosis and staging of lung cancers. Progress has been made with the [...] Read more.

In recent years, the combination of endobronchial ultrasound and endoscopic ultrasound has enabled “medical exploration” of the mediastinum for the study of mediastinal lymphadenopathies. These techniques are particularly important for the diagnosis and staging of lung cancers. Progress has been made with the availability of new-generation cutting needles for endoscopic ultrasound and new cryobiopsy needles for endobronchial ultrasound to improve the quality of samples. Full article

(This article belongs to the Special Issue Advances in Ultrasound)

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11 pages, 582 KiB

Open AccessArticle

Operational Feasibility of Point-of-Care Testing for Sickle Cell Disease in Resource-Limited Settings of Tribal Sub-Plan Region of India

by Mahendra Thakor, Janesh Kumar Gautam, Ansuman Panigrahi, Dharmendra Garasiya, Shankar Lal Brhamnia and Suman Sundar Mohanty

Diagnostics 2025, 15(3), 348; https://doi.org/10.3390/diagnostics15030348 (registering DOI) - 2 Feb 2025

Abstract

Background: Sickle cell disease (SCD) individuals in India are mostly identified when they become symptomatic. To provide a timely diagnosis of SCD to participants, healthcare workers should be competent in using the point-of-care test (POCT). In this study, we aimed to evaluate [...] Read more.

Background: Sickle cell disease (SCD) individuals in India are mostly identified when they become symptomatic. To provide a timely diagnosis of SCD to participants, healthcare workers should be competent in using the point-of-care test (POCT). In this study, we aimed to evaluate the competence of healthcare workers to screen infants and adult populations through POCT. Methodology: This study was conducted in pilot mode over 8 months from April to November 2023. A random sampling method was used to select ten auxiliary nursing midwives (ANMs), ten lab technicians (LTs), and five medical officers (MOs). Each selected ANM and LT was supposed to conduct ten tests and MOs to conduct five tests. The POCT used to diagnose sickle cell disease was HemoTypeSC. Results: Among the healthcare workers who participated in the study, 67% belonged to the scheduled tribes. When the ANM and LT competencies were compared for the pre-analytical phase (phase I), ANMs were more competent than the LTs. ANMs were more adept at handling people, whereas the LTs were more competent in conducting the test procedures. When the comparison was made for the analytical phase (phase II), both the ANMs and LTs were found to be equally competent. ANMs followed the standard operating procedure (SOP) more precisely than MOs and LTs. In the post-analytical phase, LTs were found to be more competent than ANMs. The approach used in this study with sub-centers and primary health centers (PHCs) appears to have encouraged the feasibility of the screening program. Conclusions: The results of this study conclude that the healthcare workers in the region are competent to perform the POCT for the diagnosis of sickle cell disease. The POCT may be introduced in the program for the diagnosis of SCD. Full article

(This article belongs to the Special Issue Sickle Cell Disease: Recent Advances in Diagnosis and Management)

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25 pages, 4147 KiB

Open AccessArticle

Automatic Detection of Occluded Main Coronary Arteries of NSTEMI Patients with MI-MS ConvMixer + WSSE Without CAG

by Mehmet Cagri Goktekin, Evrim Gul, Tolga Çakmak, Fatih Demir, Mehmet Ali Kobat, Yaman Akbulut, Ömer Işık, Zehra Kadiroğlu, Kürşat Demir and Abdulkadir Şengür

Diagnostics 2025, 15(3), 347; https://doi.org/10.3390/diagnostics15030347 (registering DOI) - 2 Feb 2025

Abstract

Background/Objectives: Heart attacks are the leading cause of death in the world. There are two important classes of heart attack: ST-segment Elevation Myocardial Infarction (STEMI) and Non-ST-segment Elevation Myocardial Infarction (NSTEMI) patient groups. While the STEMI group has a higher mortality rate in [...] Read more.

Background/Objectives: Heart attacks are the leading cause of death in the world. There are two important classes of heart attack: ST-segment Elevation Myocardial Infarction (STEMI) and Non-ST-segment Elevation Myocardial Infarction (NSTEMI) patient groups. While the STEMI group has a higher mortality rate in the short term, the NSTEMI group is considered more dangerous and insidious in the long term. Blocked coronary arteries can be predicted from ECG signals in STEMI patients but not in NSTEMI patients. Therefore, coronary angiography (CAG) is inevitable for these patients. However, in the elderly and some patients with chronic diseases, if there is a single blockage, the CAG procedure poses a risk, so medication may be preferred. In this study, a novel deep learning-based approach is used to automatically detect the occluded main coronary artery or arteries in NSTEMI patients. For this purpose, a new seven-class dataset was created with expert cardiologists. Methods: A new Multi Input-Multi Scale (MI-MS) ConvMixer model was developed for automatic detection. The MI-MS ConvMixer model allows simultaneous training of 12-channel ECG data and highlights different regions of the data at different scales. In addition, the ConMixer structure provides high classification performance without increasing the complexity of the model. Moreover, to maximise the classifier performance, the WSSE algorithm was developed to adjust the classification prediction value according to the feature importance weights. Results: This algorithm improves the SVM classifier performance. The features extracted from this model were classified with the WSSE algorithm, and an accuracy of 88.72% was achieved. Conclusions: This study demonstrates the potential of the MI-MS ConvMixer model in advancing ECG signal classification for diagnosing coronary artery diseases, offering a promising tool for real-time, automated analysis in clinical settings. The findings highlight the model’s ability to achieve high sensitivity, specificity, and precision, which could significantly improve. Full article

(This article belongs to the Special Issue Artificial Intelligence in Biomedical Diagnostics and Analysis 2024)

10 pages, 2009 KiB

Open AccessArticle

Morphometry of the Scapular Notch and Its Clinical Implication in Suprascapular Nerve Entrapment

by Jhonatan Duque-Colorado, Oscar Andrés Alzate-Mejia and Mariano del Sol

Diagnostics 2025, 15(3), 346; https://doi.org/10.3390/diagnostics15030346 (registering DOI) - 2 Feb 2025

Abstract

Background/Objectives: The aim of the present study was to evaluate the relationship between the type of scapular notch (SN), the morphometry of the SN, and the area of the suprascapular nerve (SSN). In addition to determining whether scapular notches other than Type [...] Read more.

Background/Objectives: The aim of the present study was to evaluate the relationship between the type of scapular notch (SN), the morphometry of the SN, and the area of the suprascapular nerve (SSN). In addition to determining whether scapular notches other than Type VI, according to the classification of Rengachary, can generate a predisposition to SSN entrapment neuropathy. Methods: One hundred and sixty-nine dry scapulae were examined, the scapular notches were classified, according to the classification of Rengachary, and for each SN, the superior transverse diameter (STD), longitudinal diameter (LD), and area of the SN were determined. The SSN was dissected in five shoulders and its area was calculated. The data were analyzed in the statistical software SPSS. Results: The values for the STD, LD, and area of the SN showed significant differences between the types of scapular notches (p < 0.0001). Along the same lines, a considerable positive correlation (r = 0.79; p < 0.0001) was established between the area of the SN and the STD. Similarly, a very strong positive correlation (r = 0.87; p < 0.0001) was established between the area of the SN and the LD. This indicated that, as the STD and the LD increase, the area of the SN increases. Conclusions: Although different studies have reported an association between SN Type VI and the compression of the SSN by the formation of a bony hole that reduces the area of the notch, we have found that SN Type IV presented a smaller area among the types of notches and a smaller area than the SSN, which exposes the SSN to be closer to or in contact with the superior transverse ligament of the scapula, potentially subjecting the nerve to greater pressure and potentially resulting in SSN entrapment. This is evidence that should be considered in the clinical diagnosis of patients with entrapment neuropathy, since the type of SN and the area of the SSN can be determined by ultrasound, which contributes to a more accurate preoperative evaluation and diagnosis. Full article

(This article belongs to the Special Issue Advances in Human Anatomy)

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10 pages, 2890 KiB

Open AccessArticle

A Novel Method to Represent the Three-Dimensional Inclination of the Distal Radius Joint Surface

by Akira Ikumi, Reo Asai, Yusuke Eda, Tooru Uchida, Sho Kohyama, Takeshi Ogawa and Yuichi Yoshii

Diagnostics 2025, 15(3), 345; https://doi.org/10.3390/diagnostics15030345 (registering DOI) - 1 Feb 2025

Abstract

Objectives: This study aims to define three-dimensional (3D) parameters for the inclination of the distal radius joint surface. The goal is to develop standardized parameters for fracture reduction through comprehensive 3D evaluations of the joint surfaces. Methods: We analyzed 112 CT scans of [...] Read more.

Objectives: This study aims to define three-dimensional (3D) parameters for the inclination of the distal radius joint surface. The goal is to develop standardized parameters for fracture reduction through comprehensive 3D evaluations of the joint surfaces. Methods: We analyzed 112 CT scans of unaffected wrists (56 males and 56 females) to construct 3D models of the distal radius. Using 3D coordinates, the normal vectors and angles were calculated based on three reference points on the distal radius joint surface. These normal vector components were then converted into unit vector components A, B, and C for the x, y, and z axes, respectively. Additionally, the angles of these unit vectors were assessed in the xy, yz, and xz planes. The 3D measurements were compared between males and females and against traditional two-dimensional (2D) parameters such as palmar tilt and radial inclination. Results: For males, the unit vector components were as follows: A: −0.14 ± 0.09, B: −0.92 ± 0.02, and C: −0.36 ± 0.07; for females, A: −0.21 ± 0.08, B: −0.90 ± 0.03, and C: −0.36 ± 0.05. Significant differences were found between males and females for the A and B vector components (representing the palmar–dorsal and proximal–distal axes, p < 0.01). The angles of the unit vectors in the xy, yz, and xz planes were 8.9 ± 5.4°/12.9 ± 5.0°, 21.3 ± 4.1°/22.1 ± 3.2°, and 22.2 ± 14.8°/28.8 ± 10.1° for males and females, respectively. There were significant differences between males and females in the angles of the xy and xz planes (sagittal and axial planes, p < 0.01). Strong correlations were observed between the xy-plane vectors and palmar tilt (r = 0.96), as well as between the yz-plane vectors and radial inclination (r = 0.88). Conclusions: This study evaluated the 3D inclination of the distal radius joint surface, revealing significant gender differences. This method, which also allows for the assessment of rotational alignment—difficult with conventional techniques—is expected to be a key 3D parameter in treating distal radius fractures. Full article

(This article belongs to the Special Issue Recent Advances in Bone and Joint Imaging—2nd Edition)

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11 pages, 833 KiB

Open AccessArticle

Incidence, Potential Mechanisms, and Clinical Significance of Cavernous Sinus Air Sign

by Bo Kyu Kim, Sung-Hye You and Byungjun Kim

Diagnostics 2025, 15(3), 344; https://doi.org/10.3390/diagnostics15030344 (registering DOI) - 31 Jan 2025

Abstract

Background/Objectives: The cavernous sinus air sign, historically linked to trauma or venous sinus thrombosis, has recently been reported in association with retrograde venous air embolism, often without clinical significance. Despite this, its exact prevalence, etiology, and clinical relevance remain unclear. This study aims [...] Read more.

Background/Objectives: The cavernous sinus air sign, historically linked to trauma or venous sinus thrombosis, has recently been reported in association with retrograde venous air embolism, often without clinical significance. Despite this, its exact prevalence, etiology, and clinical relevance remain unclear. This study aims to systematically evaluate the incidence of the cavernous sinus air sign in patients undergoing CT angiography (CTA) and to assess its potential clinical implications. Methods: We retrospectively analyzed data from patients who underwent CTA between January 2021 and December 2021. The cavernous sinus air sign was defined radiologically as air-density foci within the cavernous sinus, with Hounsfield units lower than those of orbital fat. Key variables included clinical indications for CTA, evidence of venous reflux of contrast media, the laterality of contrast injection, and the presence of brachiocephalic vein stenosis. Comparative analyses were performed to identify factors associated with the occurrence of the cavernous sinus air sign. Results: Among the 2,821 patients evaluated, the cavernous sinus air sign was identified in 35 cases (1.2%). Notably, none of these patients had a history of trauma or venous sinus thrombosis. Follow-up CT imaging was available for 27 of the 35 cases (77.1%), and in all instances, the cavernous sinus air sign resolved spontaneously. A statistically significant association was found between the cavernous sinus air sign and left-sided peripheral intravenous contrast injection, observed in 8.6% of affected patients compared to 1.5% in those without the sign (p = 0.001). Venous reflux into the internal jugular vein was also more frequent in patients with the air sign (34.3% vs. 14.1%, p = 0.001). These findings suggest a mechanical component, likely related to retrograde air embolism, influenced by anatomical and procedural factors. Conclusions: The isolated presence of the cavernous sinus air sign, in the absence of relevant clinical conditions, is most likely a benign, incidental finding associated with retrograde air embolism. Full article

(This article belongs to the Special Issue Clinical Advances and Applications in Neuroradiology)

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19 pages, 3759 KiB

Open AccessReview

Weight-Bearing CT: Advancing the Diagnosis and Treatment of Hallux Valgus, Midfoot Pathology, and Progressive Collapsing Foot Deformity

by Dong-Il Chun, Jaeho Cho, Sung Hun Won, Otgonsaikhan Nomkhondorj, Jahyung Kim, Chi Young An and Young Yi

Diagnostics 2025, 15(3), 343; https://doi.org/10.3390/diagnostics15030343 - 31 Jan 2025

Abstract

Since its introduction, weight-bearing computed tomography (WBCT) has gained prominence due to its ability to produce accurate three-dimensional images under natural loading conditions, making it particularly useful for assessing complex foot deformities. This review aimed to focus on the diseases of the foot [...] Read more.

Since its introduction, weight-bearing computed tomography (WBCT) has gained prominence due to its ability to produce accurate three-dimensional images under natural loading conditions, making it particularly useful for assessing complex foot deformities. This review aimed to focus on the diseases of the foot and categorized the pathological conditions into forefoot disease (hallux valgus), midfoot disease (Lisfranc injuries and midfoot osteoarthritis), and progressive collapsing foot deformity. For each category, the authors detail how WBCT enhances diagnostic accuracy and informs treatment strategies. In hallux valgus, WBCT allows for more precise measurement of established parameters and reveals crucial information about metatarsal pronation and ray instability. For midfoot pathologies, WBCT’s superiority in detecting subtle Lisfranc injuries and characterizing midfoot osteoarthritis is emphasized, highlighting the development of novel measurement techniques. The review extensively covers the application of WBCT in assessing the complex three-dimensional features of PCFD, including hindfoot valgus, midfoot/forefoot abduction, medial column instability, peritalar subluxation, and valgus tilting, presenting several WBCT-specific measurements and the use of distance mapping to quantify joint surface interaction. The authors conclude that WBCT, potentially enhanced through integration with artificial intelligence (AI), represents a significant advancement in foot and ankle care, promising improved diagnostic accuracy, streamlined treatment planning, and, ultimately, better patient outcomes. Full article

(This article belongs to the Special Issue Advances in Foot and Ankle Surgery: Diagnosis and Management)

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15 pages, 3846 KiB

Open AccessArticle

Molecular Clustering of Metabolic Dysfunction-Associated Steatotic Liver Disease Based on Transcriptome Analysis

by Gina Ryu, Eileen Laurel Yoon, Wankyu Kim and Dae Won Jun

Diagnostics 2025, 15(3), 342; https://doi.org/10.3390/diagnostics15030342 - 31 Jan 2025

Abstract

Background: Metabolic dysfunction-associated steatotic liver disease (MASLD) is a complex metabolic disorder with a diverse spectrum. This study aimed to classify patients with MASLD into molecular subtypes based on the underlying pathophysiology. Methods: We performed high-throughput RNA sequencing on 164 liver tissue samples [...] Read more.

Background: Metabolic dysfunction-associated steatotic liver disease (MASLD) is a complex metabolic disorder with a diverse spectrum. This study aimed to classify patients with MASLD into molecular subtypes based on the underlying pathophysiology. Methods: We performed high-throughput RNA sequencing on 164 liver tissue samples from healthy controls and patients with MASLD. The clustering was based on individual genes or pathways that showed high variation across the samples. Second, the clustering was based on single-sample gene set enrichment analysis. Results: Optimal homogeneity was achieved by dividing the samples into four clusters (one healthy control and three MASLD clusters I–III) based on the top genes or pathways with differences across the samples. No significant differences were observed in waist circumference, blood pressure, glucose, alanine transaminase (ALT), or aspartate transferase (AST) levels between cluster I patients with MASLD and the healthy controls. Cluster I showed the clinical features of lean MASLD. Cluster III of MASLD demonstrated hypertension and a T2DM prevalence of 57.1% and 50.0%, respectively, with a significantly higher fibrosis burden (stage of fibrosis, liver stiffness, and FIB-4 value) than clusters I and II. Cluster III was associated with severe fibrosis and abnormal glucose homeostasis. In MASLD cluster I, the sphingolipid and GPCR pathways were upregulated, whereas the complement and phagocytosis pathways were downregulated. In MASLD cluster II, the cell cycle and NOTCH3 pathways increased, whereas the PI3K and insulin-related pathways decreased. In MASLD cluster III, increased activity occurred in the interleukin-2 and -4 and extracellular matrix pathways, coupled with decreased activity in the serotonin 2A and B pathways. Conclusions: MASLD can be divided into three distinct molecular phenotypes, wherein each is characterized by a specific molecular pathway. Full article

(This article belongs to the Special Issue Diagnosis of Liver Disease)

19 pages, 2064 KiB

Open AccessArticle

Microarray-Based Avidity Assay for Assessment of Thyroid Autoantibodies

by Elena Savvateeva, Vera Sokolova, Marina Yukina, Nurana Nuralieva, Elena Kulagina, Maxim Donnikov, Lyudmila Kovalenko, Maria Kazakova, Ekaterina Troshina and Dmitry Gryadunov

Diagnostics 2025, 15(3), 341; https://doi.org/10.3390/diagnostics15030341 - 31 Jan 2025

Abstract

Background/Objectives: The aim of this study was to evaluate the avidity of thyroid autoantibodies (Abs) in sera of patients with autoimmune thyroid disease (AITD) and thyroid autoantibody carriers without diagnosed AITD. Methods: A hydrogel microarray-based multiplex assay with the chaotrope destruction stage was [...] Read more.

Background/Objectives: The aim of this study was to evaluate the avidity of thyroid autoantibodies (Abs) in sera of patients with autoimmune thyroid disease (AITD) and thyroid autoantibody carriers without diagnosed AITD. Methods: A hydrogel microarray-based multiplex assay with the chaotrope destruction stage was developed to measure the avidity of thyroid disease-associated autoantibodies, including those targeting thyroperoxidase (TPO), thyroglobulin (Tg), and other minor antigens. Results: Evaluation of the assay in three independent cohorts of patients, totaling 266 individuals with and without AITD, demonstrated the heterogeneous avidity of autoantibodies to thyroid proteins. For the confirmation study, the median avidity index (AI) for AbTg was 29.9% in healthy autoantibody carriers, 52.6% for AITD patients, and 92.7% for type 1 diabetes (T1D) thyroid autoantibody carriers. The median AI for AbTPO was 39.9% in healthy carriers, 73.4% in AITD patients, 83.2% in T1D thyroid autoantibody carriers, and 98.5% in AITD patients with thyroid neoplasm. In patients with Hashimoto’s thyroiditis and known disease duration, changes in the avidity maturation of AbTPO over time were demonstrated. Conclusions: Longitudinal studies of TPO- and/or Tg-positive healthy individuals (with an interval of 1–2 years between visits) are needed to evaluate the maturation of autoantibody avidity during the asymptomatic phase and to assess the potential of autoantibody avidity as a prognostic marker for disease development. Full article

(This article belongs to the Special Issue Recent Advances in Clinical Laboratory Immunology)

11 pages, 4316 KiB

Open AccessCase Report

Cardiac Manifestations in Fabry Disease: A Case Report on Two Siblings

by Slavica Kovačić, Tin Nadarević, Petar Žauhar, Božidar Vujičić and Iva Žuža

Diagnostics 2025, 15(3), 340; https://doi.org/10.3390/diagnostics15030340 - 31 Jan 2025

Abstract

Background/objectives: Anderson-Fabry disease (FD) is a rare hereditary disorder caused by deficient alpha-galactosidase A activity, which leads to multisystemic complications, including significant cardiac involvement. In this case report, we describe two siblings with distinct cardiac manifestations of FD. Methods: The medical data [...] Read more.

Background/objectives: Anderson-Fabry disease (FD) is a rare hereditary disorder caused by deficient alpha-galactosidase A activity, which leads to multisystemic complications, including significant cardiac involvement. In this case report, we describe two siblings with distinct cardiac manifestations of FD. Methods: The medical data of two siblings who were managed and treated at a tertiary hospital center in Croatia were obtained by detailed analysis of electronic medical records. All available data were structured in chronological order. Results: A 42-year-old male with chronic renal failure and severe left ventricular hypertrophy (LVH) was diagnosed with FD during testing for inclusion on the kidney transplant waiting list. The diagnosis was confirmed by cardiac magnetic resonance imaging (CMR), which revealed non-ischemic fibrosis typical of FD. Following enzyme replacement therapy (ERT), he underwent a successful kidney transplantation. The second case describes the 36-year-old brother, who was diagnosed through family screening and, despite normal initial cardiac ultrasound findings, exhibited early cardiac involvement through reduced T1-mapping values. Immediate initiation of ERT led to normalization of T1 values and successful renal transplantation. Conclusions: This report underscores the importance of family screening and early diagnosis in FD and highlights the role of CMR in detecting preclinical cardiac involvement. Full article

(This article belongs to the Special Issue New Trends and Advances in Cardiac Imaging)

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11 pages, 438 KiB

Open AccessArticle

Large Italian Multicenter Study on Prognostic Value of Baselines Variables in mCRPC Patients Treated with ²²³RaCl₂: Ten Years of Clinical Experience

by Maria Silvia De Feo, Luca Filippi, Matteo Bauckneht, Elisa Lodi Rizzini, Cristina Ferrari, Valentina Lavelli, Andrea Marongiu, Gianmario Sambuceti, Claudia Battisti, Antonio Mura, Giuseppe Fornarini, Sara Elena Rebuzzi, Alessio Farcomeni, Alessandra Murabito, Susanna Nuvoli, Miriam Conte, Melissa Montebello, Renato Patrizio Costa, Arber Golemi, Manlio Mascia, Laura Travascio, Fabio Monari, Giuseppe Rubini, Angela Spanu, Giuseppe De Vincentis and Viviana Frantellizzi Show full author list Hide full author list

Diagnostics 2025, 15(3), 339; https://doi.org/10.3390/diagnostics15030339 - 31 Jan 2025

Abstract

Background/Objectives: The prognostic value of baseline clinical parameters in predicting the survival prolonging effect of Radium-223-dichloride (²²³RaCl₂) for metastatic castration resistant prostate cancer (mCRPC) patients has been the object of intensive research and remains an open issue. This national [...] Read more.

Background/Objectives: The prognostic value of baseline clinical parameters in predicting the survival prolonging effect of Radium-223-dichloride (²²³RaCl₂) for metastatic castration resistant prostate cancer (mCRPC) patients has been the object of intensive research and remains an open issue. This national multicenter study aimed to corroborate the evidence of ten years of clinical experience with ²²³RaCl₂ by collecting data from eight Italian Nuclear Medicine Units. Methods: Data from 581 consecutive mCRPC patients treated with ²²³RaCl₂ were retrospectively analyzed. Several baseline variables relevant to the overall survival (OS) analysis were considered, including age, previous radical prostatectomy/radiotherapy, number of previous treatment lines, prior chemotherapy, Gleason score, presence of lymphoadenopaties, number of bone metastases, concomitant use of bisphosphonates/Denosumab, Eastern Cooperative Oncology Group Performance Status (ECOG-PS), as well as baseline values of hemoglobin (Hb), platelets, Total Alkaline Phosphatase (tALP), Lactate Dehydrogenase (LDH), and Prostate-Specific Antigen (PSA). Data were summarized using descriptive statistics, univariate analysis and multivariate analysis with the Cox model. Results: The median OS time was 14 months (95%CI 12–17 months). At univariate analysis age, the number of previous treatment lines, number of bone metastases, ECOG-PS, presence of lymphadenopathies at the time of enrollment, as well as baseline tALP, PSA, and Hb, were independently associated with OS. After multivariate analysis, the number of previous treatment lines (HR = 1.1670, CI = 1.0095–1.3491, p = 0.0368), the prior chemotherapy (HR = 0.6461, CI = 0.4372–0.9549, p = 0.0284), the presence of lymphadenopathies (HR = 1.5083, CI = 1.1210–2.0296, p = 0.0066), the number of bone metastases (HR = 0.6990, CI = 0.5416–0.9020, p = 0.0059), ECOG-PS (HR = 1.3551, CI = 1.1238–1.6339, p = 0.0015), and baseline values of tALP (HR = 1.0008, CI = 1.0003–1.0013, p = 0.0016) and PSA (HR = 1.0004, CI = 1.0002–1.0006, p = 0.0005) remained statistically significant. Conclusions: In the era of precision medicine and in the landscape of novel therapies for mCRPC, the prognostic stratification of patients undergoing ²²³RaCl₂ has a fundamental role for clinical decision-making, ranging from treatment choice to optimal sequencing and potential associations. This large Italian multicenter study corroborated the prognostic value of several variables, emerging from ten years of clinical experience with ²²³RaCl₂. Full article

(This article belongs to the Special Issue Diagnostic Imaging of Prostate Cancer)

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13 pages, 1684 KiB

Open AccessArticle

Evaluating Carotid Plaque Stiffness with Ultrasound 2D Shear-Wave Elastography in Patients Undergoing Coronary Artery Bypass Grafting

by Adel Alzahrani, Amjad Ali Alharbi, Amjad Khalid Alharbi, Asma Alkhaldi, Asseel Z. Filimban, Abrar Alfatni, Reham Kaifi, Ahmad Albngali, Mohammed Alkharaiji, Omar Alserihy and Salahaden R. Sultan

Diagnostics 2025, 15(3), 338; https://doi.org/10.3390/diagnostics15030338 - 31 Jan 2025

Abstract

Background: Coronary and carotid artery diseases are manifestations of a systemic atherosclerotic process, often coexisting in patients affected by both conditions. This association emphasizes the importance of evaluating both coronary and carotid atherosclerosis in high-risk individuals. Ultrasound 2D shear-wave elastography (2D-SWE) has shown [...] Read more.

Background: Coronary and carotid artery diseases are manifestations of a systemic atherosclerotic process, often coexisting in patients affected by both conditions. This association emphasizes the importance of evaluating both coronary and carotid atherosclerosis in high-risk individuals. Ultrasound 2D shear-wave elastography (2D-SWE) has shown promise as a noninvasive technique for assessing carotid plaque stiffness. This prospective pilot study aimed to assess carotid plaque stiffness in patients undergoing coronary artery bypass grafting (CABG) and those not scheduled for the procedure as a control group. Methods: 32 patients (17 CABG and 15 controls) were recruited, collectively presenting 43 carotid plaques. Bilateral carotid ultrasound was performed using a high-resolution linear transducer. Plaque stiffness was quantified via 2D-SWE, expressed in shear-wave velocity (SWV, m/s) and Young’s modulus (YM, kPa). Plaque characteristics, including GSM, were quantified. Intra-observer reproducibility was evaluated with intraclass correlation coefficients (ICCs) and Bland–Altman plots. Statistical differences and correlations were assessed using Mann–Whitney U and Spearman’s correlation tests. Results: Carotid plaques in the CABG group exhibited significantly lower stiffness compared to controls (median stiffness SWV: 3.64 m/s vs. 4.91 m/s, p < 0.0001; YM: 20.96 kPa vs. 72.54 kPa, p < 0.0001). ICCs demonstrated excellent reproducibility for stiffness measurements (SWV: ICC = 0.992; YM: ICC = 0.992), with minimal bias in measurements. A positive correlation was observed between 2D-SWE and GSM values (SWV: r = 0.343, p = 0.024; YM: r = 0.340, p = 0.026). Conclusions: Ultrasound 2D-SWE has shown promise as a reliable tool for quantifying carotid plaque stiffness, demonstrating high reproducibility and a significant correlation with GSM. The observed reduction in plaque stiffness among CABG patients highlights its potential as a valuable parameter for identifying high-risk plaques and assessing cerebrovascular risk in patients undergoing CABG. Full article

(This article belongs to the Special Issue Current Perspectives and Advances in Ultrasound Imaging)

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13 pages, 932 KiB

Open AccessCase Report

Pancreatic Neuroendocrine Tumors—Diagnostic Pitfalls of Non-Diabetic Severe Hypoglycemia: Literature Review and Case Report

by Simona Georgiana Popa, Andreea Loredana Golli, Cristina Florentina Matei, Alexandra Nicoleta Sonei, Cristin Vere, Radu Cimpeanu, Marian Munteanu and Alexandru Munteanu

Diagnostics 2025, 15(3), 337; https://doi.org/10.3390/diagnostics15030337 - 31 Jan 2025

Abstract

Background/Objectives: Hypoglycemia in the case of persons without diabetes is a rare event, being usually, initially misinterpreted based on the symptoms that can mimic various diseases, especially of a neuro-psychiatric nature. In the case of the identification of insulin-mediated hypoglycemia, the evaluation [...] Read more.

Background/Objectives: Hypoglycemia in the case of persons without diabetes is a rare event, being usually, initially misinterpreted based on the symptoms that can mimic various diseases, especially of a neuro-psychiatric nature. In the case of the identification of insulin-mediated hypoglycemia, the evaluation of pancreatic neuroendocrine tumors, which represent the most common and worrisome causes of non-diabetic insulin-mediated hypoglycemia, must be considered. Methods/Results: We present the case of a 57-year-old patient, hospitalized for a history of approximately one month of recurrent episodes of symptoms suggestive for severe hypoglycemia. The biological evaluation performed during an episode of hypoglycemia showed a plasma glucose value of 44 mg/dL, insulinemia 16.3 µU/mL, C peptide 3.72 ng/mL, HbA1c 4.99%, absence of urinary ketone bodies and anti-insulin antibodies <0.03 U/mL. The CT and MRI examination showed a 15.3/15 mm rounded tumor in the pancreatic corporeo-caudal region. The pancreatic tumor formation was enucleated and the histopathological and immunohistochemical analysis confirmed the diagnosis of the pancreatic neuroendocrine tumor with a positive reaction for chromogranin A, synaptophysin and insulin, without malignancy features (Ki 67 positive in 1% of the tumor cells). The postoperative evolution was favorable, without episodes of hypoglycemia, the fasting insulinemia one day after surgery being 4.1 µU/mL and HbA1c at three weeks postoperatively being 5.51%. Conclusions: The management of patients with hyperinsulinemic hypoglycemia secondary to insulinoma involves multidisciplinary collaboration with an important role in recognizing symptoms suggestive of hypoglycemia in a person without diabetes, initiating biological and imaging evaluation, establishing the optimal therapeutic option and histopathological confirmation. Full article

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

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11 pages, 1237 KiB

Open AccessArticle

Effectiveness of Double Balloon Enteroscopy in the Diagnosis and Treatment of Small Bowel Varices

by Suleyman Dolu, Mehmet Emin Arayici, Soner Onem, Ilker Buyuktorun, Huseyin Dongelli, Goksel Bengi and Mesut Akarsu

Diagnostics 2025, 15(3), 336; https://doi.org/10.3390/diagnostics15030336 - 31 Jan 2025

Abstract

Background/Aims: Double balloon enteroscopy (DBE) is an innovative method for the diagnosis and management of small bowel (SB) diseases. SB varices are rare disorders, and their diagnosis and treatment can be challenging for clinicians. This study evaluates the use of double balloon enteroscopy [...] Read more.

Background/Aims: Double balloon enteroscopy (DBE) is an innovative method for the diagnosis and management of small bowel (SB) diseases. SB varices are rare disorders, and their diagnosis and treatment can be challenging for clinicians. This study evaluates the use of double balloon enteroscopy (DBE) in diagnosing and treating small bowel varices. Materials and Methods: SB varices were detected in 28 out of 900 double balloon enteroscopy procedures over an 18-year period. Eleven cases of SB varices of various etiologies, diagnosed via DBE, are described. The characteristics of SB varices and endoscopic procedural details were evaluated. Results: A retrospective investigation of 750 patients identified eleven patients (eight males and three females; median age 59 years, range 40–80 years) with small bowel varices. The most common site of SB varices was the jejunum. At least one abdominopelvic surgical procedure had been previously performed on five patients. Endotherapy by DBE was administered to nine patients (seven emergent and two prophylactic). Post-endotherapy, three patients experienced bleeding that required re-endotherapy. Endoscopic therapy for small bowel varices included injection sclerotherapy in eight cases (six with cyanoacrylate and two with polidocanol) and injection sclerotherapy plus hemoclipping in one case. Conclusions: SB varices can present a diagnostic challenge for clinicians. DBE is a valuable tool for both the diagnosis and management of small bowel varices. Full article

(This article belongs to the Special Issue Endoscopy in Diagnosis of Gastrointestinal Disorders—2nd Edition)

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