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Diagnostics, Volume 14, Issue 13 (July-1 2024) – 148 articles

Cover Story (view full-size image): 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. 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. View this paper
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12 pages, 697 KiB  
Article
Longitudinal Risk Analysis of Second Primary Cancer after Curative Treatment in Patients with Rectal Cancer
by Jiun-Yi Hsia, Chi-Chang Chang, Chung-Feng Liu, Chia-Lin Chou and Ching-Chieh Yang
Diagnostics 2024, 14(13), 1461; https://doi.org/10.3390/diagnostics14131461 - 8 Jul 2024
Viewed by 351
Abstract
Predicting and improving the response of rectal cancer to second primary cancers (SPCs) remains an active and challenging field of clinical research. Identifying predictive risk factors for SPCs will help guide more personalized treatment strategies. In this study, we propose that experience data [...] Read more.
Predicting and improving the response of rectal cancer to second primary cancers (SPCs) remains an active and challenging field of clinical research. Identifying predictive risk factors for SPCs will help guide more personalized treatment strategies. In this study, we propose that experience data be used as evidence to support patient-oriented decision-making. The proposed model consists of two main components: a pipeline for extraction and classification and a clinical risk assessment. The study includes 4402 patient datasets, including 395 SPC patients, collected from three cancer registry databases at three medical centers; based on literature reviews and discussion with clinical experts, 10 predictive variables were considered risk factors for SPCs. The proposed extraction and classification pipelines that classified patients according to importance were age at diagnosis, chemotherapy, smoking behavior, combined stage group, and sex, as has been proven in previous studies. The C5 method had the highest predicted AUC (84.88%). In addition, the proposed model was associated with a classification pipeline that showed an acceptable testing accuracy of 80.85%, a recall of 79.97%, a specificity of 88.12%, a precision of 85.79%, and an F1 score of 79.88%. Our results indicate that chemotherapy is the most important prognostic risk factor for SPCs in rectal cancer survivors. Furthermore, our decision tree for clinical risk assessment illuminates the possibility of assessing the effectiveness of a combination of these risk factors. This proposed model may provide an essential evaluation and longitudinal change for personalized treatment of rectal cancer survivors in the future. Full article
(This article belongs to the Special Issue Advances in the Diagnosis of Gastrointestinal Diseases—2nd Edition)
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12 pages, 2137 KiB  
Article
Prevalence and Patterns of Positional Dental Anomalies in First Permanent Molars: Insights from a Study in Oradea, Romania
by Rahela Tabita Moca, Abel Emanuel Moca, Raluca Iulia Juncar, Luminița Ligia Vaida, Anna-Maria Janosy and Mihai Juncar
Diagnostics 2024, 14(13), 1460; https://doi.org/10.3390/diagnostics14131460 - 8 Jul 2024
Viewed by 405
Abstract
Tooth position anomalies, influenced by both genetic and environmental factors, can significantly impact oral health and play a critical role in establishing proper occlusion. The aim of this study was to identify the most prevalent tooth position anomalies in first permanent molars among [...] Read more.
Tooth position anomalies, influenced by both genetic and environmental factors, can significantly impact oral health and play a critical role in establishing proper occlusion. The aim of this study was to identify the most prevalent tooth position anomalies in first permanent molars among Romanian patients and to evaluate additional variables as well. This retrospective study utilized digital study models to identify all existing tooth position anomalies. The study included patients aged 12 to 40 years with complete permanent dentition. Axial changes (buccal tilting, oral tilting, mesial tilting, and distal tilting) as well as rotational changes (mesio-buccal rotation and disto-buccal rotation) were investigated. After applying the exclusion criteria, 103 patients remained in the study. Our findings revealed a notable prevalence of positional anomalies, with disto-buccal rotations being most common in upper molars (tooth 1.6–22.3%, tooth 2.6–31.1%) and oral tilting predominating in lower molars (tooth 3.6–6.8%, tooth 4.6–14.6%). Interestingly, neither gender nor malocclusion type significantly influenced the occurrence of tooth position anomalies. Symmetrical patterns in positional changes were observed, with patients having tooth position anomalies at 1.6 significantly more frequently associated with anomalies at 2.6. Similarly, anomalies at 3.6 were significantly more frequently associated with anomalies at 4.6. Additionally, for molars 2.6 and 3.6 on the left side, the differences were statistically significant, with patients having anomalies at 2.6 significantly more frequently associated with anomalies at 3.6. This pattern was not observed for the molars situated on the right side of the dental arches. While this study provides insights into positional anomalies in first permanent molars among the Romanian population, its retrospective design and focus on a specific demographic may limit generalizability. In conclusion, the study underscores the significant prevalence of positional anomalies in first permanent molars among adolescents and adults in Oradea, Romania. Early detection and targeted interventions are crucial to address these anomalies and improve orthodontic outcomes. Comprehensive assessment and treatment planning are essential to achieve optimal dental harmony and function. Further research is needed to elucidate the underlying factors contributing to these positional changes and their long-term impact on oral health and occlusal stability. Full article
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10 pages, 567 KiB  
Article
The Outcomes of Colorectal Endoscopic Submucosal Dissection in Patients with Chronic Kidney Disease: A Honam Association for the Study of Intestinal Disease (HASID) Multicenter Study
by Byung Chul Jin, Dong Hyun Kim, Geom-Seog Seo, Sang-Wook Kim, Hyung-Hoon Oh, Hyo-Yeop Song, Seong-Jung Kim, Young-Eun Joo, Jun Lee and Hyun-Soo Kim
Diagnostics 2024, 14(13), 1459; https://doi.org/10.3390/diagnostics14131459 - 8 Jul 2024
Viewed by 318
Abstract
Colorectal neoplasms are prevalent in patients with chronic kidney disease (CKD); however, the safety and efficacy of colorectal endoscopic submucosal dissection (ESD) are not well understood. This retrospective analysis included ESD procedures performed in 1266 patients with CKD across five tertiary medical institutions [...] Read more.
Colorectal neoplasms are prevalent in patients with chronic kidney disease (CKD); however, the safety and efficacy of colorectal endoscopic submucosal dissection (ESD) are not well understood. This retrospective analysis included ESD procedures performed in 1266 patients with CKD across five tertiary medical institutions from January 2015 to December 2020. Patients were categorized based on their estimated glomerular filtration rate (eGFR), which ranged from CKD1 to CKD5 (including those on dialysis). We found that en bloc resection rates remained high across all CKD stages, affirming the procedural efficacy of ESD. Notably, the prevalence of cardiovascular comorbidities, such as ischemic heart disease and diabetes mellitus, significantly increased with an advancing CKD stage, with a corresponding increase in the Charlson Comorbidity Index, highlighting the complexity of managing these patients. Despite these challenges, the complete resection rate was lower in the CKD5 group (50%) than in the CKD1 group (83.4%); however, procedural complications, such as perforation and bleeding, did not significantly differ among the groups. The predictive models for complete resection and major complications showed no significant changes with a decreasing eGFR. These findings underscore that ESD is a feasible and safe treatment for colorectal neoplasms in patients with CKD, successfully balancing the inherent procedural risks with clinical benefits. Full article
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26 pages, 2500 KiB  
Systematic Review
Anatomical Variants of the Origin of the Coronary Arteries: A Systematic Review and Meta-Analysis of Prevalence
by Juan José Valenzuela Fuenzalida, Emelyn Sofia Becerra-Rodriguez, Alonso Sebastián Quivira Muñoz, Belén Baez Flores, Catalina Escalona Manzo, Mathias Orellana-Donoso, Pablo Nova-Baeza, Alejandra Suazo-Santibañez, Alejandro Bruna-Mejias, Juan Sanchis-Gimeno, Héctor Gutiérrez-Espinoza and Guinevere Granite
Diagnostics 2024, 14(13), 1458; https://doi.org/10.3390/diagnostics14131458 - 8 Jul 2024
Viewed by 381
Abstract
Purpose: The most common anomaly is an anomalous left coronary artery originating from the pulmonary artery. These variants can be different and depend on the location as well as how they present themselves in their anatomical distribution and their symptomatological relationship. For these [...] Read more.
Purpose: The most common anomaly is an anomalous left coronary artery originating from the pulmonary artery. These variants can be different and depend on the location as well as how they present themselves in their anatomical distribution and their symptomatological relationship. For these reasons, this review aims to identify the variants of the coronary artery and how they are associated with different clinical conditions. Methods: The databases Medline, Scopus, Web of Science, Google Scholar, CINAHL, and LILACS were researched until January 2024. Two authors independently performed the search, study selection, and data extraction. Methodological quality was evaluated using an assurance tool for anatomical studies (AQUA). Pooled prevalence was estimated using a random effects model. Results: A total of 39 studies met the established selection criteria. In this study, 21 articles with a total of 578,868 subjects were included in the meta-analysis. The coronary artery origin variant was 1% (CI = 0.8–1.2%). For this third sample, the funnel plot graph showed an important asymmetry, with a p-value of 0.162, which is directly associated with this asymmetry. Conclusions: It is recommended that patients whose diagnosis was made incidentally and in the absence of symptoms undergo periodic controls to prevent future complications, including death. Finally, we believe that further studies could improve the anatomical, embryological, and physiological understanding of this variant in the heart. Full article
(This article belongs to the Special Issue Clinical Diagnosis and Management in Cardiology)
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19 pages, 3651 KiB  
Article
Aspects of Occlusal Recordings Performed with the T-Scan System and with the Medit Intraoral Scanner
by Angelica Diana Popa, Diana Elena Vlăduțu, Adina Andreea Turcu, Daniel Adrian Târtea, Mihaela Ionescu, Cătălin Păunescu, Răzvan Sabin Stan and Veronica Mercuț
Diagnostics 2024, 14(13), 1457; https://doi.org/10.3390/diagnostics14131457 - 8 Jul 2024
Viewed by 273
Abstract
Introduction: Dental occlusion refers to the static and dynamic relationships that are established between the teeth of the two arches and is an important factor in the homeostasis of the dento-maxillary system. The objective of the present study was to compare two digital [...] Read more.
Introduction: Dental occlusion refers to the static and dynamic relationships that are established between the teeth of the two arches and is an important factor in the homeostasis of the dento-maxillary system. The objective of the present study was to compare two digital occlusal analysis systems: the T-Scan III system and the Medit I600 intraoral scanner. Materials and Methods: The study was carried out on 20 students from the Faculty of Dental Medicine Craiova, whose dental occlusion was assessed with the T-Scan III system and with the Medit I600 intraoral scanner. Dental occlusion was assessed in the maximum intercuspation position, the edge-to-edge protrusion position, and the edge-to-edge position in right and left laterotrusion. The images of the 2D occlusal contact areas obtained by both methods were converted to .jpeg format and then transferred to Adobe Photoshop CS6 2021 (Adobe Systems, San Jose, CA, USA) for comparison. The recorded data were statistically processed. Results: Analyzing the data provided by the two digital occlusal analysis systems, it was found that the T-Scan III system provided data related to the amplitude of the occlusal forces, the surface on which they were distributed (the contact surface), the dynamics of the occlusal contacts, and the proportion in which they were distributed at the level of the two hemiarches, and the Medit I600 intraoral scanner performed an evaluation of the occlusal interface of the two arches, highlighting the extent of the contact areas with the degree of overlapping of the occlusal components. Although both methods of occlusal analysis recorded the highest values for the maximum intercuspation position, the results could not be compared. Conclusions: The two digital systems provide different data in occlusal analysis. As the T-Scan III system is considered the gold standard for occlusal analysis, more studies are needed to understand the data provided by the Medit I600 intraoral scanner and their significance. Full article
(This article belongs to the Special Issue Advances in Oral and Maxillofacial Radiology)
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20 pages, 1463 KiB  
Review
Evolving and Novel Applications of Artificial Intelligence in Thoracic Imaging
by Jin Y. Chang and Mina S. Makary
Diagnostics 2024, 14(13), 1456; https://doi.org/10.3390/diagnostics14131456 - 8 Jul 2024
Viewed by 572
Abstract
The advent of artificial intelligence (AI) is revolutionizing medicine, particularly radiology. With the development of newer models, AI applications are demonstrating improved performance and versatile utility in the clinical setting. Thoracic imaging is an area of profound interest, given the prevalence of chest [...] Read more.
The advent of artificial intelligence (AI) is revolutionizing medicine, particularly radiology. With the development of newer models, AI applications are demonstrating improved performance and versatile utility in the clinical setting. Thoracic imaging is an area of profound interest, given the prevalence of chest imaging and the significant health implications of thoracic diseases. This review aims to highlight the promising applications of AI within thoracic imaging. It examines the role of AI, including its contributions to improving diagnostic evaluation and interpretation, enhancing workflow, and aiding in invasive procedures. Next, it further highlights the current challenges and limitations faced by AI, such as the necessity of ‘big data’, ethical and legal considerations, and bias in representation. Lastly, it explores the potential directions for the application of AI in thoracic radiology. Full article
(This article belongs to the Special Issue Applications of Artificial Intelligence in Thoracic Imaging)
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21 pages, 19626 KiB  
Article
Combined Rotating Ultra-High-Resolution Spectral Domain OCT and Scheimpflug Imaging for In Vivo Corneal Optical Biopsy
by Renato Ambrósio Jr., Louise Pellegrino G. Esporcatte, Karolyna Andrade de Carvalho, Marcella Q. Salomão, Amanda Luiza Pereira-Souza, Bernardo T. Lopes, Aydano P. Machado and Sebastian Marschall
Diagnostics 2024, 14(13), 1455; https://doi.org/10.3390/diagnostics14131455 - 8 Jul 2024
Viewed by 512
Abstract
Purpose: This article introduces the Pentacam® Cornea OCT (optical coherence tomography). This advanced corneal imaging system combines rotating ultra-high-resolution spectral domain OCT with sub- 2-micron axial resolution and Scheimpflug photography. The purpose of this study is to present the first experience with [...] Read more.
Purpose: This article introduces the Pentacam® Cornea OCT (optical coherence tomography). This advanced corneal imaging system combines rotating ultra-high-resolution spectral domain OCT with sub- 2-micron axial resolution and Scheimpflug photography. The purpose of this study is to present the first experience with the instrument and its potential for corneal diagnostics, including optical biopsy. Methods: In this prospective study, the Pentacam® Cornea OCT was used to image the corneas of seven patients. The novel wide-angle pericentric scan system enables optimal OCT imaging performance for the corneal layer structure over the entire width of the cornea, including the limbal regions. A detailed analysis of the resulting images assessed the synergism between the OCT and Scheimpflug photography. Results: The Pentacam® Cornea OCT demonstrated significantly improved image resolution and ability to individualize corneal layers with high quality. There is a synergism between the OCT high-definition signal to individualize details on the cornea and Scheimpflug photography to detect and quantify corneal scattering. The noncontact exam was proven safe, user-friendly, and effective for enabling optical biopsy. Conclusions: Pentacam® Cornea OCT is an advancement in corneal imaging technology. The ultra-high-resolution spectral domain OCT and Scheimpflug photography provide unprecedented detail and resolution, enabling optical biopsy and improving the understanding of corneal pathology. Further studies are necessary to compare and analyze the tomographic reconstructions of the cornea with the different wavelengths, which may provide helpful information for diagnosing and managing corneal diseases. Full article
(This article belongs to the Special Issue Optical Coherence Tomography in Diagnosis of Ophthalmology Disease)
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Figure 3). In the Cornea Zoom view, the cornea’s thickness is stretched to visualize all fine anatomical details across the entire width in one image.

Full article ">Figure 5.

Full article ">Figure 7 shows the corneal transplant in Scheimpflug image (A), the real shape of the cornea (B), and the cornea zoom (C).

Full article ">Figure 7 and Figure 8 shows endothelium changes in Scheimpflug image (A), the real shape of the cornea (B), and the cornea zoom (C).

Full article ">Figure 12. In (A), at the first exam, the PIO of 44 and 45 mmHg in OD and OS showed a curved cornea with edema. In (B), after two hours of administering carbonic anhydrase inhibitor orally, we can observe the corneal changes, which deflate and flattens; in (C), three days later, with PIO of 12 mmHg in both eyes and no pathological corneal changes.

Full article ">Figure 12 and Figure 13. We can observe the improvement of cornea edema three days after the treatment in OD (A) and OS (B).

Full article ">Figure 14 shows the Scheimpflug, real shape, and cornea zoom of the Salzmann nodular degeneration (A) and one day after manual removal with PTK smoothing and mitomycin use (B).

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10 pages, 1248 KiB  
Article
Diagnostic Value of SALL4 and OCT3/4 in Pediatric Testicular Tumors
by Ovidiu Bîcă, Carmen Iulia Ciongradi, Marius Ivănuță, Victor Ianole, Ioan Sârbu, Elena Cojocaru, Delia Elena Bîcă and Ludmila Lozneanu
Diagnostics 2024, 14(13), 1454; https://doi.org/10.3390/diagnostics14131454 - 8 Jul 2024
Viewed by 312
Abstract
Testicular tumors (TTs) are rare in children, posing diagnostic and therapeutic challenges. This retrospective study evaluates the diagnostic and prognostic utility of SALL4 and OCT3/4 in pediatric TTs. We analyzed 18 cases of different types of TTs using immunohistochemistry (IHC) to assess SALL4 [...] Read more.
Testicular tumors (TTs) are rare in children, posing diagnostic and therapeutic challenges. This retrospective study evaluates the diagnostic and prognostic utility of SALL4 and OCT3/4 in pediatric TTs. We analyzed 18 cases of different types of TTs using immunohistochemistry (IHC) to assess SALL4 (Spalt-like transcription factor 4) and OCT3/4 (Octamer binding transcription factor 3/4) expression. SALL4 was positive in 83.3% of tumors, while OCT3/4 was positive in 38.9% of tumors, with a significantly higher prevalence in patients aged 12–18 years compared to those aged 0–11 years (p = 0.013). Mixed germinal cell tumors were significantly more frequently associated with OCT3/4 (p = 0.003), and a high immunostaining expression for SALL4 was observed primarily in yolk sac tumors and embryonal carcinoma. Our findings suggest that SALL4 and OCT3/4 immunostaining can aid in accurate diagnosis and treatment planning, and underscores the importance of OCT3/4 as a predictive factor in pediatric testicular tumors, highlighting its substantial correlation with tumor type and its impact on treatment response. These markers may guide personalized therapeutic strategies, potentially improving patient outcomes. Full article
(This article belongs to the Special Issue Urologic Oncology: Biomarkers, Diagnosis, and Management)
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14 pages, 2926 KiB  
Article
Comparative Analysis of Four Different Intraoral Scanners: An In Vitro Study
by Lucian Toma Ciocan, Vlad Gabriel Vasilescu, Sabina-Ana Răuță, Mihaela Pantea, Silviu-Mirel Pițuru and Marina Imre
Diagnostics 2024, 14(13), 1453; https://doi.org/10.3390/diagnostics14131453 - 8 Jul 2024
Viewed by 383
Abstract
(1) Background: Intraoral scanners undergo rapid advancements in hardware and software, prompting frequent updates by manufacturers. (2) Aim: This study aimed to quantitatively assess the precision of full dental arch digital impressions obtained from four different intraoral scanners: Trios 5—3SHAPE, Copenhagen, Denmark, CEREC [...] Read more.
(1) Background: Intraoral scanners undergo rapid advancements in hardware and software, prompting frequent updates by manufacturers. (2) Aim: This study aimed to quantitatively assess the precision of full dental arch digital impressions obtained from four different intraoral scanners: Trios 5—3SHAPE, Copenhagen, Denmark, CEREC Primescan— Dentsply Sirona, New York, NY, USA, Planmeca Emerald S—Planmeca Oy, Helsinki, Finland, and Medit i700—Medit Corp, Seoul, Republic of Korea. (3) Methods: A maxillary virtual dental model (digital master model) was created in accordance with ISO standard 20896-1. Subsequently, a 3D-printed model was obtained from the master model’s STL file and scanned 15 times consecutively with each scanner. STL files were aligned with the master model’s STL using Medit Link—Medit Design software v.3.1.0. The accuracy was evaluated by measuring deviations in micrometers between each scanner’s scans and the master model. (4) Results: The study revealed variations in accuracy ranging from 23 to 32 µm across scans of the same dental arch, irrespective of the scanner used and scanning strategy employed. The anterior regions exhibited higher precision (Mean Absolute Deviation of 112 µm) compared to the posterior regions (Mean Absolute Deviation of 127 µm). Trios 5 demonstrated the smallest deviation (average 112 µm), indicating superior accuracy among the scanners tested. Emerald S and Medit i700 exhibited balanced performance (average 117 µm and 114 µm, respectively), while Primescan consistently displayed high deviation (average 127 µm). (5) Conclusions: Based on clinically accepted thresholds for accuracy in intraoral scanning, which are typically 200 µm for full arch scans, Trios 5 surpasses these benchmarks with its average deviation falling within the 200 µm range. Emerald S and Medit i700 also meet these standards, while Primescan, although showing high overall deviation, approaches the upper limit of clinical acceptability. Considering the limitations of an in vitro investigation, the findings demonstrate that each intraoral scanner under evaluation is capable of reliably and consistently capturing a full arch scan for dentate patients. Full article
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24 pages, 10546 KiB  
Article
Safe Zones for Facial Fillers: Anatomical Study of SubSMAS Spaces in Asians
by Gi-Woong Hong, Hyewon Hu, Youngjin Park, Hyun Jin Park and Kyu-Ho Yi
Diagnostics 2024, 14(13), 1452; https://doi.org/10.3390/diagnostics14131452 - 8 Jul 2024
Viewed by 331
Abstract
The study “Spaces of the Face for Filler Procedures: Identification of subSMAS Spaces Based on Anatomical Study” explores the anatomy of facial spaces crucial for safe and effective filler injections. By delineating the subSMAS (sub-superficial musculoaponeurotic system) spaces, this research highlights how these [...] Read more.
The study “Spaces of the Face for Filler Procedures: Identification of subSMAS Spaces Based on Anatomical Study” explores the anatomy of facial spaces crucial for safe and effective filler injections. By delineating the subSMAS (sub-superficial musculoaponeurotic system) spaces, this research highlights how these virtual compartments, bordered by fat, muscles, fascia, and ligaments, facilitate independent muscle movement and reduce the risk of damaging critical structures. The thicker and more robust skin of East Asians necessitates deeper filler injections, emphasizing the significance of accurately identifying these spaces. A cadaver study with dyed gelatin validated the existence and characteristics of these subSMAS spaces, confirming their safety for filler procedures. Key spaces, such as the subgalea-frontalis, interfascial and temporalis, and prezygomatic spaces, were examined, illustrating safe zones for injections. The findings underscore the importance of anatomical knowledge for enhancing facial aesthetics while minimizing complications. This study serves as a guide for clinicians to perform precise and safe filler injections, providing a foundation for further research on the dynamic interactions of these spaces and long-term outcomes. Full article
(This article belongs to the Special Issue Advances in Anatomy—Third Edition)
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6 pages, 3306 KiB  
Interesting Images
A Rare Case of Invasive Thyroid Aspergillosis Revealed on 18F-FDG-PET/CT
by Ayoub Jaafari, Sohaïb Mansour, Laetitia Lebrun, Keitiane Kaefer and Rachid Attou
Diagnostics 2024, 14(13), 1451; https://doi.org/10.3390/diagnostics14131451 - 8 Jul 2024
Viewed by 394
Abstract
Invasive aspergillosis (IA) represents a common form of fungal infection caused by various species of Aspergillus that most frequently affect immunocompromised patients. Typically, this disease occurs preferentially in high-risk groups including patients infected with the human immunodeficiency virus (HIV), patients with leukemia, patients [...] Read more.
Invasive aspergillosis (IA) represents a common form of fungal infection caused by various species of Aspergillus that most frequently affect immunocompromised patients. Typically, this disease occurs preferentially in high-risk groups including patients infected with the human immunodeficiency virus (HIV), patients with leukemia, patients with autoimmune diseases, and organ transplant patients undergoing medical immunosuppression. Considered the second most common cause of opportunistic fungal infection in humans after Candida albicans, this pathogen predominantly affects the lungs, but it may also spread by a hematogenous route to various organs and have a heterogeneous presentation. Owing to its high iodine levels, high perfusion, and enclosed capsule, the thyroid gland is considered to have a lower susceptibility to microbial invasion, and it is fairly uncommon to find associated infectious nodules. In metabolic imaging, 18F-FDG-PET/CT has become increasingly useful for detecting a wide range of infectious and inflammatory diseases and is already the gold standard for certain indications. According to the literature, no studies of hypermetabolic nodular thyroid aspergillosis on 18F-FDG-PET/CT confirmed on histology have yet been reported. Here, we report the first case of a patient with a heterogeneous presentation of IA and the presence of a hypermetabolic nodule in the thyroid with a surprising result. Full article
(This article belongs to the Section Medical Imaging and Theranostics)
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Figure 2, yellow arrow). In light of the results, a thyroid workup was carried out; the biological tests came back normal, and the thyroid ultrasound revealed an iso- and hypoechoic EU-TIRADS-5 macro-nodule of the left lobe measuring 18 × 12 × 23 mm, with vascularization around the perimeter, which had been punctured (C,D). Histological results showed the presence of filaments/hyphae scattered throughout in free form or septate and ramified, characteristic of aspergillosis (Figure 3, black arrow). Aspiration and culture revealed the presence of Aspergillus fulmigatus. The diagnosis of invasive thyroid aspergillosis was made. “Dot lines” and number “+” are the ultrasound size measurement tools used to measure the thyroid nodule. The “white square frame” with the colors inside refers to the vascularization of the thyroid nodule. Aspergillosis is a prevalent fungal infection caused by inhaling spores (named conidia) of the mold Aspergillus [1]. These are generally contained in soils, plants, and decaying organic matter, but also in the air and indoor environments. Over 200 species of Aspergillus are currently thought to have been described, of which only around 10% are pathogenic to humans [2]. The genus Aspergillus comprises several hundred species, of which Aspergillus fumigatus remains the most common pathogenic agent, responsible for approximately 90% of cases of aspergillosis, followed by Aspergillus flavus, niger, terreus, and nidulans [3]. In general, aspergillosis is fairly widespread. Depending on the patient’s immunity, they can lead to various forms of clinical presentation, ranging from an isolated form to multi-organ involvement [4]. The most severe forms, known as “invasive”, are usually seen in immunocompromised patients due to HIV infection, oncological conditions, intensive chemotherapy, immunosuppressive drug therapy, post-transplant conditions, or other chronic diseases, and may be associated with high mortality rates and life-threatening illness [5]. It is therefore crucial to assess both the extent of the disease and the effectiveness of treatment, with several diagnostic strategies currently available. The cornerstone of IA diagnosis is biopsy-based fungal culture, supplemented by other biomarker tests such as galactomannan in serum and bronchoalveolar lavage fluid (BAL) [6]. Conventional CT imaging is generally useful in diagnostic management, but radiological features of aspergillosis are not specific, and the CT finding termed the “halo-signal” is a sign that may not always be clearly detectable [7].

Full article ">8]. 18F-labeled FDG is a glucose analog absorbed by cells via a membrane transporter (GLUT-1 and GLUT-3) and sequestered after phosphorylation. Therefore, its intracellular concentration is proportional to the cell’s metabolism [8]. Typically, cellular use of glucose rises in leukocytes activated by infection and inflammation, leading to intense uptake of 18F-FDG, detectable by PET/CT [9]. 18F-FDG-PET/CT of the patient: (A) Maximum Intensity Projection (MIP) of the entire body. (B) Maximum 32 Intensity Projection (MIP) of the head section passes at the level of the thyroid compartment. (C) fused PET/CT images, 33 (D) CT-images showing the hypermetabolic thyroid nodule (yellow arrow). Due to the heterogeneous presentation of IA, 18F-FDG-PET/CT is a consistent tool, particularly in the early stages of the disease, and for the detection of extrapulmonary lesions [10]. According to the literature, the metabolic activity of aspergill nodules is not necessarily high and may vary (low to high uptake) depending on aggressiveness and form (acute or chronic IA) [11]. Some authors have reported different metabolic imaging presentations of aspergillosis lesions; a cold nodule with discrete surrounding metabolism, an iso-metabolic one when glucose uptake is similar to or less than the mediastinal blood pool, and a hypermetabolic one when glucose uptake is greater than the mediastinal blood pool as in our patient (Figure 2A,B) [11,12]. Hence, IA can result in a wide range of clinical manifestations of aspergillosis and a broad spectrum of possible presentations on 18F-FDG-PET/CT imaging. In our view, the thyroid gland is an unusual localization as it is extremely resistant to infection owing to its high iodine level, hydrogen peroxide production, extensive lymphatic and vascular supply, and encapsulated location [12]. Aspergillosis predominantly affects the lungs, invading the lung parenchyma and vasculature, but may also spread by a hematogenous route to various organs such as the central nervous system, heart, kidney, skin, soft tissues, and liver [5]. Once the thyroid gland is invaded, it may show variability in thyroid bioassays, ranging from hyperthyroidism due to hormone release from follicular cell lesions to hypothyroidism or euthyroidism, as in our patient [10]. According to the literature, innate and adaptive immunity have long been recognized as playing a crucial role in combating aspergillosis infection [13,14,15]. The innate immunity mediated by macrophages, neutrophils, natural killers, and plasmacytoid dendritic cells is essential for phagocytosis and fungal damage. Therefore, in our patient, it appears highly likely that the iatrogenic immunosuppression induced by the drugs used in the liver transplant significantly disrupted the patient’s immune homeostasis and led to the development of this opportunist infection, which spread from his lungs through his bloodstream to his thyroid gland. Moreover, Aspergillus fumigatus has a greater proclivity than other Aspergillus species to invade the thyroid gland and potentially induce significant destruction of thyroid tissue [16].

Full article ">16,17]. According to the literature, no studies of hypermetabolic nodular thyroid aspergillosis on 18F-FDG-PET/CT confirmed on histology have yet been reported. In our patient, given the focal thyroid hypermetabolism, ultrasound and fine needle aspiration (FNA) were performed to avoid missing another pathology, revealing the presence of a hypoechoic, non-vascularized nodule (Figure 1C,D) and aspergillosis filaments (Figure 3), confirming the diagnosis of the rare thyroid invasive aspergillosis. In conclusion, invasive aspergillosis is a relatively common fungal infection in immunocompromised patients, generally affecting the lungs, but can also spread by hematogenous route and invade other organs. Thyroid aspergillosis has been rarely reported in the literature and is an entity that physicians should be aware of. The scope and severity of clinical manifestations may vary according to the individual’s immune status and the location of the invaded organs. Delays in diagnosis therefore often contribute to fatal outcomes and delayed treatment. Thyroid fine needle aspiration (FNA) is minimally invasive and has a high diagnostic efficiency. Clinicians must incorporate 18F-FDG-PET/CT into the diagnostic and therapeutic management of patients with suspected aspergillosis to provide a comprehensive assessment and determine the most suitable therapy.

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21 pages, 835 KiB  
Review
Synthesis and Regulation of miRNA, Its Role in Oncogenesis, and Its Association with Colorectal Cancer Progression, Diagnosis, and Prognosis
by Monika Rac
Diagnostics 2024, 14(13), 1450; https://doi.org/10.3390/diagnostics14131450 - 7 Jul 2024
Viewed by 428
Abstract
The dysfunction of several types of regulators, including miRNAs, has recently attracted scientific attention for their role in cancer-associated changes in gene expression. MiRNAs are small RNAs of ~22 nt in length that do not encode protein information but play an important role [...] Read more.
The dysfunction of several types of regulators, including miRNAs, has recently attracted scientific attention for their role in cancer-associated changes in gene expression. MiRNAs are small RNAs of ~22 nt in length that do not encode protein information but play an important role in post-transcriptional mRNA regulation. Studies have shown that miRNAs are involved in tumour progression, including cell proliferation, cell cycle, apoptosis, and tumour angiogenesis and invasion, and play a complex and important role in the regulation of tumourigenesis. The detection of selected miRNAs may help in the early detection of cancer cells, and monitoring changes in their expression profile may serve as a prognostic factor in the course of the disease or its treatment. MiRNAs may serve as diagnostic and prognostic biomarkers, as well as potential therapeutic targets for colorectal cancer. In recent years, there has been increasing evidence for an epigenetic interaction between DNA methylation and miRNA expression in tumours. This article provides an overview of selected miRNAs, which are more frequently expressed in colorectal cancer cells, suggesting an oncogenic nature. Full article
(This article belongs to the Special Issue Recent Advancements of Molecular Biomarkers in Cancer)
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16 pages, 3132 KiB  
Article
Combining Molecular and Traditional Prognostic Factors: A Holistic Approach to Breast Cancer Prognostication
by Liviu Moraru, Melinda Ildiko Mitranovici, Raluca Moraru, Septimiu Voidazan, Mihai Munteanu, Rares Georgescu, Dan Costachescu and Sabin Gligore Turdean
Diagnostics 2024, 14(13), 1449; https://doi.org/10.3390/diagnostics14131449 - 7 Jul 2024
Viewed by 396
Abstract
Breast cancer is a heterogeneous disease with various morphologies and molecular features, and it is the second leading cause of cancer death in women in developed countries. According to the literature, we currently lack both prognostic biomarkers and therapeutic targets. The most important [...] Read more.
Breast cancer is a heterogeneous disease with various morphologies and molecular features, and it is the second leading cause of cancer death in women in developed countries. According to the literature, we currently lack both prognostic biomarkers and therapeutic targets. The most important prognostic factors are disease stage and Nottingham grade. We conducted a retrospective analysis involving 273 patients with BC who underwent neoadjuvant therapy before proceeding to curative surgical treatment between 1 January 2014 and 31 December 2023. Pathological procedures were conducted at the Department of Pathology, Emergency County Hospital of Targu Mureș, Romania. A statistical analysis was performed. Regarding the relationship between Nottingham grade and Ki67, grade I was associated with a Ki67 of less than 14. The relationship between tumor grade and luminal was similar (p = 0.0001): Grade I was associated with luminal A. Regarding TNM stage, it was statistically significantly correlated with TILs (p = 0.01) and RCB (p = 0.0001). Stages III and IV were associated with a high RCB and poor prognosis. Regarding the prognostic value, Nottingham grade 3 and TNM stages III and IV were correlated with low overall survival and disease-free survival, with poor prognosis, and, among the molecular variables, RCB played the most important prognostic role. Full article
(This article belongs to the Special Issue Clinical Prognostic and Predictive Biomarkers—2nd Edition)
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25 pages, 1155 KiB  
Review
The Role of Biomarkers in HPV-Positive Head and Neck Squamous Cell Carcinoma: Towards Precision Medicine
by Antea Krsek, Lara Baticic, Vlatka Sotosek and Tamara Braut
Diagnostics 2024, 14(13), 1448; https://doi.org/10.3390/diagnostics14131448 - 7 Jul 2024
Viewed by 465
Abstract
Head and neck cancer (HNC) represents a significant global health challenge, with squamous cell carcinomas (SCCs) accounting for approximately 90% of all HNC cases. These malignancies, collectively referred to as head and neck squamous cell carcinoma (HNSCC), originate from the mucosal epithelium lining [...] Read more.
Head and neck cancer (HNC) represents a significant global health challenge, with squamous cell carcinomas (SCCs) accounting for approximately 90% of all HNC cases. These malignancies, collectively referred to as head and neck squamous cell carcinoma (HNSCC), originate from the mucosal epithelium lining the larynx, pharynx, and oral cavity. The primary risk factors associated with HNSCC in economically disadvantaged nations have been chronic alcohol consumption and tobacco use. However, in more affluent countries, the landscape of HNSCC has shifted with the identification of human papillomavirus (HPV) infection, particularly HPV-16, as a major risk factor, especially among nonsmokers. Understanding the evolving risk factors and the distinct biological behaviors of HPV-positive and HPV-negative HNSCC is critical for developing targeted treatment strategies and improving patient outcomes in this complex and diverse group of cancers. Accurate diagnosis of HPV-positive HNSCC is essential for developing a comprehensive model that integrates the molecular characteristics, immune microenvironment, and clinical outcomes. The aim of this comprehensive review was to summarize the current knowledge and advances in the identification of DNA, RNA, and protein biomarkers in bodily fluids and tissues that have introduced new possibilities for minimally or non-invasive cancer diagnosis, monitoring, and assessment of therapeutic responses. Full article
(This article belongs to the Special Issue Advances in Laboratory Markers of Human Disease)
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11 pages, 5118 KiB  
Case Report
Neurofibromatosis Type 1—Retinal Alterations Detectable with Optical Coherence Tomography Angiography
by Anca Elena Târtea, Carmen Luminița Mocanu, Alin Ștefan Ștefănescu Dima, Andreea Cornelia Tănasie, Veronica Maria, Alexandra Oltea Dan and Andrei Theodor Bălășoiu
Diagnostics 2024, 14(13), 1447; https://doi.org/10.3390/diagnostics14131447 - 6 Jul 2024
Viewed by 312
Abstract
Neurofibromatosis type 1 (NF 1) is a multisystemic genetic disorder involving aberrant proliferation of multiple tissues of a neural crest origin. It represents a tumor predisposition syndrome characterized by a wide range of clinical manifestations, such as benign tumors, which primarily affect the [...] Read more.
Neurofibromatosis type 1 (NF 1) is a multisystemic genetic disorder involving aberrant proliferation of multiple tissues of a neural crest origin. It represents a tumor predisposition syndrome characterized by a wide range of clinical manifestations, such as benign tumors, which primarily affect the skin and the nervous system. The most frequent clinical signs of NF 1 include café-au-lait spots all over the surface of the skin and axillary freckling; however, these signs can be accompanied by more severe manifestations such as the growth of both benign and malignant nervous system tumors and skeletal dysplasia, as well as a wide range of ocular manifestations. We report the rare case of retinal microvascular alterations and choroidal nodules in a 15 year old male patient with NF 1, detectable on optical coherence tomography angiography (OCTA). The hyperreflective choroidal nodules modified the profile of the choroidal vasculature. The retinal microvascular alterations in the form of clustered capillaries were detected in the superficial capillary plexus located nasally to the macular region. Retinal vascular abnormalities undetectable on fundus photography or fundoscopy can be present in patients with NF 1. Indirect ophthalmoscopy of our study patient was unremarkable. However, retinal vascular abnormalities were seen on OCTA scans in the superficial capillary plexus and choroidal nodules were detected on raster OCT scans. OCTA represents a useful imaging technique for detecting retinal microvascular abnormalities, which can be considered additional distinctive signs of NF 1. Full article
(This article belongs to the Special Issue Updates on the Diagnosis and Management of Retinal Diseases)
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12 pages, 4619 KiB  
Case Report
Sex Determination via the Second Cervical Vertebra and Odontoid Process: A Case Report and a Review of the Literature
by Emanuela Stan, Camelia-Oana Muresan, Raluca Dumache, Veronica Ciocan, Stefania Ungureanu, Ecaterina Daescu and Alexandra Enache
Diagnostics 2024, 14(13), 1446; https://doi.org/10.3390/diagnostics14131446 - 6 Jul 2024
Viewed by 342
Abstract
Determining an individual’s sex is crucial in several fields, such as forensic anthropology, archaeology, and medicine. Accurate sex estimation, alongside the estimation of age at death, stature, and ancestry, is of paramount importance for creating a biological profile. This profile helps narrow the [...] Read more.
Determining an individual’s sex is crucial in several fields, such as forensic anthropology, archaeology, and medicine. Accurate sex estimation, alongside the estimation of age at death, stature, and ancestry, is of paramount importance for creating a biological profile. This profile helps narrow the potential pool of missing persons and aids identification. Our research focuses on the second cervical vertebra and odontoid process, which is particularly valuable due to their high sexual dimorphism. This brief research is structured as follows: we provide an overview of morphometric analysis of the second cervical vertebra for accurate sex estimation in forensic anthropology. We then delve into a case report to explore sexual dimorphism of the C2 vertebrae. Moreover, we discuss some of these studies that showed a significant correlation between the dimensions of the second cervical vertebrae and height, suggesting that the C2 can be used as a reliable indicator for stature estimation. The high accuracy rate of sex estimation using the second cervical vertebrae suggests that this method is a valuable tool for forensic anthropologists. Its practical application can significantly contribute to identifying and profiling individuals in a forensic context, thereby aiding in the identification process. Full article
(This article belongs to the Special Issue New Perspectives in Forensic Diagnosis)
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16 pages, 13207 KiB  
Article
Prevalence and Risk Factors for Portal Cavernoma in Adult Patients with Portal Vein Thrombosis
by Sergiu Marian Cazacu, Dragoș Ovidiu Alexandru, Daniela Dumitrescu, Alexandru Marian Vieru, Marinela Cristiana Urhuț and Larisa Daniela Săndulescu
Diagnostics 2024, 14(13), 1445; https://doi.org/10.3390/diagnostics14131445 - 6 Jul 2024
Viewed by 383
Abstract
Portal vein thrombosis (PVT) represents a restriction or occlusion of the portal vein by a blood clot, which can appear in liver cirrhosis, inherited or acquired thrombophilia, malignancies, abdominal infection, abdominal inflammation, and injury to the portal vein; it can evolve to local [...] Read more.
Portal vein thrombosis (PVT) represents a restriction or occlusion of the portal vein by a blood clot, which can appear in liver cirrhosis, inherited or acquired thrombophilia, malignancies, abdominal infection, abdominal inflammation, and injury to the portal vein; it can evolve to local venous extension, recanalization, or portal cavernoma (PC). This research represents an observational study of patients admitted with a diagnosis of PVT between January 2018 and December 2022. We assessed the rate of and risk factors for PC. In total, 189 patients with PVT were included; the rate of PC was 14.8%. In univariate and multivariate analysis, the main risk factors for the presence of PC were etiology (thrombophilia, myeloproliferative disorders, local inflammatory diseases, and idiopathic causes), prior PVT, and complete versus incomplete or single-branch portal obstruction. In patients with superior mesenteric vein (SMV) thrombosis, distal obstruction was more prone to PC than proximal obstruction. The main predictive factors were etiology, prior PVT, complete PVT obstruction, and no prior non-selective beta-blocker (NSBB) use; in patients with SMV thrombosis, the distal extension was more significantly associated with the risk of PC. We propose a composite score for the prediction of PC which includes etiology, prior diagnosis of PVT, prior NSBB use, complete versus incomplete PVT, and distal versus proximal SMV thrombosis, with good accuracy (AUC 0.822) and an estimated sensitivity of 76.92% and specificity of 82.39% at a cut-off value of 4. Full article
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8 pages, 1586 KiB  
Article
Automated Laryngeal Invasion Detector of Boluses in Videofluoroscopic Swallowing Study Videos Using Action Recognition-Based Networks
by Kihwan Nam, Changyeol Lee, Taeheon Lee, Munseop Shin, Bo Hae Kim and Jin-Woo Park
Diagnostics 2024, 14(13), 1444; https://doi.org/10.3390/diagnostics14131444 - 6 Jul 2024
Viewed by 371
Abstract
We aimed to develop an automated detector that determines laryngeal invasion during swallowing. Laryngeal invasion, which causes significant clinical problems, is defined as two or more points on the penetration–aspiration scale (PAS). We applied two three-dimensional (3D) stream networks for action recognition in [...] Read more.
We aimed to develop an automated detector that determines laryngeal invasion during swallowing. Laryngeal invasion, which causes significant clinical problems, is defined as two or more points on the penetration–aspiration scale (PAS). We applied two three-dimensional (3D) stream networks for action recognition in videofluoroscopic swallowing study (VFSS) videos. To detect laryngeal invasion (PAS 2 or higher scores) in VFSS videos, we employed two 3D stream networks for action recognition. To establish the robustness of our model, we compared its performance with those of various current image classification-based architectures. The proposed model achieved an accuracy of 92.10%. Precision, recall, and F1 scores for detecting laryngeal invasion (≥PAS 2) in VFSS videos were 0.9470 each. The accuracy of our model in identifying laryngeal invasion surpassed that of other updated image classification models (60.58% for ResNet101, 60.19% for Swin-Transformer, 63.33% for EfficientNet-B2, and 31.17% for HRNet-W32). Our model is the first automated detector of laryngeal invasion in VFSS videos based on video action recognition networks. Considering its high and balanced performance, it may serve as an effective screening tool before clinicians review VFSS videos, ultimately reducing the burden on clinicians. Full article
(This article belongs to the Special Issue Advances in Diagnosis and Treatment in Otolaryngology)
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14 pages, 2929 KiB  
Article
Utilizing Deep Learning for Diagnosing Radicular Cysts
by Mario Rašić, Mario Tropčić, Jure Pupić-Bakrač, Marko Subašić, Igor Čvrljević and Emil Dediol
Diagnostics 2024, 14(13), 1443; https://doi.org/10.3390/diagnostics14131443 - 6 Jul 2024
Viewed by 350
Abstract
Objectives: The purpose of this study was to develop a deep learning algorithm capable of diagnosing radicular cysts in the lower jaw on panoramic radiographs. Materials and Methods: In this study, we conducted a comprehensive analysis of 138 radicular cysts and 100 normal [...] Read more.
Objectives: The purpose of this study was to develop a deep learning algorithm capable of diagnosing radicular cysts in the lower jaw on panoramic radiographs. Materials and Methods: In this study, we conducted a comprehensive analysis of 138 radicular cysts and 100 normal panoramic radiographs collected from 2013 to 2023 at Clinical Hospital Dubrava. The images were annotated by a team comprising a radiologist and a maxillofacial surgeon, utilizing the GNU Image Manipulation Program. Furthermore, the dataset was enriched through the application of various augmentation techniques to improve its robustness. The evaluation of the algorithm’s performance and a deep dive into its mechanics were achieved using performance metrics and EigenCAM maps. Results: In the task of diagnosing radicular cysts, the initial algorithm performance—without the use of augmentation techniques—yielded the following scores: precision at 85.8%, recall at 66.7%, mean average precision (mAP)@50 threshold at 70.9%, and mAP@50-95 thresholds at 60.2%. The introduction of image augmentation techniques led to the precision of 74%, recall of 77.8%, mAP@50 threshold to 89.6%, and mAP@50-95 thresholds of 71.7, respectively. Also, the precision and recall were transformed into F1 scores to provide a balanced evaluation of model performance. The weighted function of these metrics determined the overall efficacy of our models. In our evaluation, non-augmented data achieved F1 scores of 0.750, while augmented data achieved slightly higher scores of 0.758. Conclusion: Our study underscores the pivotal role that deep learning is poised to play in the future of oral and maxillofacial radiology. Furthermore, the algorithm developed through this research demonstrates a capability to diagnose radicular cysts accurately, heralding a significant advancement in the field. Full article
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6 pages, 2272 KiB  
Case Report
Ultrasound Appearance of Intravascular Uterine Smooth Muscle Tumor of Uncertain Malignant Potential (STUMP): A Case Report
by Nina Montik, Camilla Grelloni, Alessandra Filosa, Gaia Goteri, Jacopo Di Giuseppe, Leonardo Natalini and Andrea Ciavattini
Diagnostics 2024, 14(13), 1438; https://doi.org/10.3390/diagnostics14131438 - 6 Jul 2024
Viewed by 328
Abstract
A 43-year-old patient with a history of uterine fibromatosis was referred to our hospital for menometrorrhagia and pelvic pain. At the pelvic ultrasound, a highly-vascularized myometrial lesion in volumetric increase was described. An elongated, solid, hypoechoic, painless, and highly vascularized left parauterine mass [...] Read more.
A 43-year-old patient with a history of uterine fibromatosis was referred to our hospital for menometrorrhagia and pelvic pain. At the pelvic ultrasound, a highly-vascularized myometrial lesion in volumetric increase was described. An elongated, solid, hypoechoic, painless, and highly vascularized left parauterine mass was identified. On histological examination, a uterine smooth muscle tumor of uncertain malignant potential (STUMP) with intravascular invasion of the left uterine vein was diagnosed. The adnexa and peritoneum were free of disease. On a retrospective evaluation of the ultrasound images, we noticed that the intravascular lesion showed sonographic features comparable to the original mass. Moreover, the Color Doppler (CD) analysis revealed an interrupted blood flow within the left uterine vein. In this case, the ultrasound proved to be an accurate diagnostic tool. When inhomogeneous uterine masses are suspected, and a parauterine/paraadnexal mass surrounded by irregular vessels are identified, the sonographer should take into account a risk of intravascular invasion. The patency of uterine and ovarian vessels should be accurately evaluated, to guide a tailored patient surgical approach. Full article
(This article belongs to the Special Issue Ultrasound in Obstetrics and Gynecology)
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24 pages, 43198 KiB  
Article
Latent Diffusion Models with Image-Derived Annotations for Enhanced AI-Assisted Cancer Diagnosis in Histopathology
by Pedro Osorio, Guillermo Jimenez-Perez, Javier Montalt-Tordera, Jens Hooge, Guillem Duran-Ballester, Shivam Singh, Moritz Radbruch, Ute Bach, Sabrina Schroeder, Krystyna Siudak, Julia Vienenkoetter, Bettina Lawrenz and Sadegh Mohammadi
Diagnostics 2024, 14(13), 1442; https://doi.org/10.3390/diagnostics14131442 - 5 Jul 2024
Viewed by 430
Abstract
Artificial Intelligence (AI)-based image analysis has immense potential to support diagnostic histopathology, including cancer diagnostics. However, developing supervised AI methods requires large-scale annotated datasets. A potentially powerful solution is to augment training data with synthetic data. Latent diffusion models, which can generate high-quality, [...] Read more.
Artificial Intelligence (AI)-based image analysis has immense potential to support diagnostic histopathology, including cancer diagnostics. However, developing supervised AI methods requires large-scale annotated datasets. A potentially powerful solution is to augment training data with synthetic data. Latent diffusion models, which can generate high-quality, diverse synthetic images, are promising. However, the most common implementations rely on detailed textual descriptions, which are not generally available in this domain. This work proposes a method that constructs structured textual prompts from automatically extracted image features. We experiment with the PCam dataset, composed of tissue patches only loosely annotated as healthy or cancerous. We show that including image-derived features in the prompt, as opposed to only healthy and cancerous labels, improves the Fréchet Inception Distance (FID) by 88.6. We also show that pathologists find it challenging to detect synthetic images, with a median sensitivity/specificity of 0.55/0.55. Finally, we show that synthetic data effectively train AI models. Full article
(This article belongs to the Special Issue Machine Learning in Medical Imaging)
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39]) is used in combination with the patch’s label to automatically extract semantic features from the image (clustered into 33 morphology types) to generate a morphology-rich prompt. After prompt building, Stable Diffusion (c), an open-source latent diffusion model (LDM), is trained using either of the prompt-building approaches from (b). Stable Diffusion is based on a variational autoencoder (VAE) and a UNet. The VAE uses its encoder (E) to reduce the dimensionality of the input image into a latent ( z 0 ) and can recover full-resolution images using its decoder (D). The VAE’s latent ( z 0 ) is used by the UNet, alongside the information in the prompt (via CLIP, a textual embedding model) to generate synthetic images. After model training, the performance of the fine-tuned Stable Diffusion model is evaluated on a series of downstream tasks (d). For this purpose, a large array of synthetic images is generated and tested using a Visual Turing test, standard image quality metrics, and two classification approaches. The snowflake icon corresponds to a frozen model.

Full article "> μ ) and standard deviation ( σ ) of the Kappa coefficients in the off-diagonal.

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26 pages, 468 KiB  
Review
AI-Enhanced Dyscalculia Screening: A Survey of Methods and Applications for Children
by Shashi Bhushan, Sharmila Arunkumar, Taiseer Abdalla Elfadil Eisa, Maged Nasser, Anuj Kumar Singh and Pramod Kumar
Diagnostics 2024, 14(13), 1441; https://doi.org/10.3390/diagnostics14131441 - 5 Jul 2024
Viewed by 435
Abstract
New forms of interaction made possible by developments in special educational technologies can now help students with dyscalculia. Artificial intelligence (AI) has emerged as a promising tool in recent decades, particularly between 2001 and 2010, offering avenues to enhance the quality of education [...] Read more.
New forms of interaction made possible by developments in special educational technologies can now help students with dyscalculia. Artificial intelligence (AI) has emerged as a promising tool in recent decades, particularly between 2001 and 2010, offering avenues to enhance the quality of education for individuals with dyscalculia. Therefore, the implementation of AI becomes crucial in addressing the needs of students with dyscalculia. Content analysis techniques were used to examine the literature covering the influence of AI on dyscalculia and its potential to assist instructors in promoting education for individuals with dyscalculia. The study sought to create a foundation for a more inclusive dyscalculia education in the future through in-depth studies. AI integration has had a big impact on educational institutions as well as people who struggle with dyscalculia. This paper highlights the importance of AI in improving the educational outcomes of students affected by dyscalculia. Full article
(This article belongs to the Section Machine Learning and Artificial Intelligence in Diagnostics)
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10 pages, 778 KiB  
Article
Combining 2D Planimetry and Yeo’s Index Can Help Accurately Identify Patients with Severe Rheumatic Mitral Stenosis—A Perspective from a 3D Assessment Using Transoesophageal Echocardiography
by Tony Li, Ryan Leow, Meei Wah Chan, William K. F. Kong, Ivandito Kuntjoro, Kian Keong Poh, Ching Hui Sia and Tiong Cheng Yeo
Diagnostics 2024, 14(13), 1440; https://doi.org/10.3390/diagnostics14131440 - 5 Jul 2024
Viewed by 306
Abstract
Background: Yeo’s index is a novel measure of the severity of rheumatic mitral valve stenosis (MS). It is derived from the product of the mitral leaflet separation index and dimensionless index. This study aims to validate Yeo’s index using a transesophageal echocardiogram (TEE) [...] Read more.
Background: Yeo’s index is a novel measure of the severity of rheumatic mitral valve stenosis (MS). It is derived from the product of the mitral leaflet separation index and dimensionless index. This study aims to validate Yeo’s index using a transesophageal echocardiogram (TEE) three-dimensional (3D) mitral valve area (MVA) as a comparator and to compare the concordance of existing echocardiographic measures of the MVA with TEE 3DMVA. Methods and Results: We studied 111 patients with rheumatic MS who underwent both transthoracic echocardiography (TTE) and a TEE assessment of MS severity. Yeo’s index, the MVA determined by 2D planimetry, pressure half-time (PHT) and continuity equation (CE) measured on TTE were compared with the TEE 3DMVA. With a linear correlation, Yeo’s index showed the best correlation with TEE 3DMVA (r2 = 0.775), followed by 2D planimetry (r2 = 0.687), CE (r2 = 0.598) and PHT (r2 = 0.363). Using TEE 3DMVA as comparator, Yeo’s index (ρc = 0.739) demonstrated the best concordance, followed by 2D planimetry (ρc = 0.632), CE (ρc = 0.464) and PHT (ρc = 0.366). When both Yeo’s index and 2D planimetry suggested significant MS, the positive predictive value was high (an AUC of 0.966 and a PPV of 100.00% for severe MS, and an AUC of 0.864 and a PPV of 85.71% for very severe MS). When both measures suggested the absence of significant MS, the negative predictive value was also high (an AUC of 0.940 and an NPV of 88.90% for severe MS, and an AUC of 0.831 and an NPV of 88.71% for very severe MS). Conclusions: Yeo’s index performed well in identifying severe MS when compared with TEE 3DMVA and may be a useful adjunct to existing methods of measuring MS severity. Combining it with 2D planimetry could further enhance its accuracy. Full article
(This article belongs to the Special Issue Diagnosis and Prognosis of Heart Disease)
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21 pages, 4759 KiB  
Article
Transfer Learning Video Classification of Preserved, Mid-Range, and Reduced Left Ventricular Ejection Fraction in Echocardiography
by Pierre Decoodt, Daniel Sierra-Sosa, Laura Anghel, Giovanni Cuminetti, Eva De Keyzer and Marielle Morissens
Diagnostics 2024, 14(13), 1439; https://doi.org/10.3390/diagnostics14131439 - 5 Jul 2024
Viewed by 555
Abstract
Identifying patients with left ventricular ejection fraction (EF), either reduced [EF < 40% (rEF)], mid-range [EF 40–50% (mEF)], or preserved [EF > 50% (pEF)], is considered of primary clinical importance. An end-to-end video classification using AutoML in Google Vertex AI was applied to [...] Read more.
Identifying patients with left ventricular ejection fraction (EF), either reduced [EF < 40% (rEF)], mid-range [EF 40–50% (mEF)], or preserved [EF > 50% (pEF)], is considered of primary clinical importance. An end-to-end video classification using AutoML in Google Vertex AI was applied to echocardiographic recordings. Datasets balanced by majority undersampling, each corresponding to one out of three possible classifications, were obtained from the Standford EchoNet-Dynamic repository. A train–test split of 75/25 was applied. A binary video classification of rEF vs. not rEF demonstrated good performance (test dataset: ROC AUC score 0.939, accuracy 0.863, sensitivity 0.894, specificity 0.831, positive predicting value 0.842). A second binary classification of not pEF vs. pEF was slightly less performing (test dataset: ROC AUC score 0.917, accuracy 0.829, sensitivity 0.761, specificity 0.891, positive predicting value 0.888). A ternary classification was also explored, and lower performance was observed, mainly for the mEF class. A non-AutoML PyTorch implementation in open access confirmed the feasibility of our approach. With this proof of concept, end-to-end video classification based on transfer learning to categorize EF merits consideration for further evaluation in prospective clinical studies. Full article
(This article belongs to the Special Issue New Progress in Diagnosis and Management of Cardiovascular Diseases)
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17 pages, 2026 KiB  
Article
MRI-Based Assessment of Risk for Stroke in Moyamoya Angiopathy (MARS-MMA): An MRI-Based Scoring System for the Severity of Moyamoya Angiopathy
by Leonie Zerweck, Constantin Roder, Ganna Blazhenets, Peter Martus, Johannes Thurow, Patrick Haas, Arne Estler, Georg Gohla, Christer Ruff, Nadja Selo, Urs Würtemberger, Nadia Khan, Uwe Klose, Ulrike Ernemann, Philipp T. Meyer and Till-Karsten Hauser
Diagnostics 2024, 14(13), 1437; https://doi.org/10.3390/diagnostics14131437 - 5 Jul 2024
Viewed by 396
Abstract
Before revascularization, moyamoya patients require hemodynamic evaluation. In this study, we evaluated the scoring system Prior Infarcts, Reactivity and Angiography in Moyamoya Disease (PIRAMID). We also devised a new scoring system, MRI-Based Assessment of Risk for Stroke in Moyamoya Angiopathy (MARS-MMA), and [...] Read more.
Before revascularization, moyamoya patients require hemodynamic evaluation. In this study, we evaluated the scoring system Prior Infarcts, Reactivity and Angiography in Moyamoya Disease (PIRAMID). We also devised a new scoring system, MRI-Based Assessment of Risk for Stroke in Moyamoya Angiopathy (MARS-MMA), and compared the scoring systems with respect to the capability to predict impaired [15O]water PET cerebral perfusion reserve capacity (CPR). We evaluated 69 MRI, 69 DSA and 38 [15O]water PET data sets. The PIRAMID system was validated by ROC curve analysis with neurological symptomatology as a dependent variable. The components of the MARS-MMA system and their weightings were determined by binary logistic regression analysis. The comparison of PIRAMID and MARS-MMA was performed by ROC curve analysis. The PIRAMID score correlated well with the symptomatology (AUC = 0.784). The MARS-MMA system, including impaired breath-hold-fMRI, the presence of the Ivy sign and arterial wall contrast enhancement, correlated slightly better with CPR impairment than the PIRAMID system (AUC = 0.859 vs. 0.827, Akaike information criterion 140 vs. 146). For simplified clinical use, we determined three MARS-MMA grades without loss of diagnostic performance (AUC = 0.855). The entirely MRI-based MARS-MMA scoring system might be a promising tool to predict the risk of stroke. Full article
(This article belongs to the Special Issue Advances in Cerebrovascular Imaging and Interventions)
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12 pages, 2614 KiB  
Article
Lymphocytic Choriomeningitis Virus Infections in Hungary between 2017–2023—Investigation of the First Congenital Infections
by Anita Koroknai, Anna Nagy, Orsolya Nagy, Nikolett Csonka, Eszter Mezei, Katalin Szomor and Mária Takács
Diagnostics 2024, 14(13), 1436; https://doi.org/10.3390/diagnostics14131436 - 5 Jul 2024
Viewed by 511
Abstract
Lymphocytic choriomeningitis virus (LCMV) is a neglected rodent-borne arenavirus, primarily spread by common house mouse species. Acquired human infections range from asymptomatic to mild flu-like symptoms and self-resolving neurological diseases. In contrast, intrauterine LCMV infection is associated with high mortality and morbidity. Infection [...] Read more.
Lymphocytic choriomeningitis virus (LCMV) is a neglected rodent-borne arenavirus, primarily spread by common house mouse species. Acquired human infections range from asymptomatic to mild flu-like symptoms and self-resolving neurological diseases. In contrast, intrauterine LCMV infection is associated with high mortality and morbidity. Infection of the fetus often leads to fetal death, and surviving fetuses may develop vision impairment and central nervous system developmental disorders. LCMV is mainly diagnosed by serological methods using in-house indirect immunofluorescence assays. LCMV nucleic acid is detected by the nested RT-PCR method and confirmed by Sanger sequencing. In Hungary, 23 acquired lymphocytic choriomeningitis cases were diagnosed between 2017 and 2023. Ten out of 23 confirmed patients proved to be positive by the PCR method. Two cases of intrauterine LCMV infections were detected in 2019 and 2021, respectively. The IgG antibody titers measured in the infant’s serum samples were much higher than the IgG titers of the maternal serum samples. Both IgM and IgA antibodies were detectable in the infants’ sera. As the microbiological diagnosis of LCMV is rather challenging and the symptoms are very similar to the clinical picture of other common teratogenic pathogens such as cytomegalovirus or Toxoplasma gondii, intrauterine LCMV infections might still be underdiagnosed. Full article
(This article belongs to the Special Issue Diagnosis and Management of Meningitis)
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18 pages, 575 KiB  
Systematic Review
Is There a Relationship between Salivary Cortisol and Temporomandibular Disorder: A Systematic Review
by Lujain AlSahman, Hamad AlBagieh and Roba AlSahman
Diagnostics 2024, 14(13), 1435; https://doi.org/10.3390/diagnostics14131435 - 5 Jul 2024
Viewed by 415
Abstract
Background: This systematic review examines and evaluates the relationship between salivary cortisol levels and temporomandibular disorder (TMD) in young adult patients. Method: Six databases—PubMed, Scopus, Web of Science, Google Scholar, ProQuest, and Cochrane Library—were utilized to screen eligible studies. A systematic search was [...] Read more.
Background: This systematic review examines and evaluates the relationship between salivary cortisol levels and temporomandibular disorder (TMD) in young adult patients. Method: Six databases—PubMed, Scopus, Web of Science, Google Scholar, ProQuest, and Cochrane Library—were utilized to screen eligible studies. A systematic search was performed based on PECO questions and eligibility criteria. The research question for this review was “Do salivary cortisol levels correlate with TMD in individuals aged 18–40?” The risk of bias for quality assessment was determined by the Cochrane tool. PRISMA guidelines were followed while performing this review. Result: A total of fourteen studies were included in this review. Of these, eleven were observational studies (four cross-sectional and seven case–control), and three were randomized control trials. Eleven of the included studies presented a low to moderate risk in the qualitative synthesis. The total sample size of the included studies was 751 participants. The included studies suggest higher salivary cortisol levels in TMD patients than in healthy individuals. Conclusions: The findings of this review indicate higher salivary cortisol levels in adult patients with TMD than in healthy controls. Thus, supportive psychological treatment and clinical modalities should be provided to patients with TMD. Moreover, higher-quality studies with low heterogeneity are required to support this finding. Full article
(This article belongs to the Special Issue Advances in the Diagnosis of Oral and Maxillofacial Disease)
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2 pages, 430 KiB  
Interesting Images
Ventricular Angiography: A Forgotten Diagnostic Tool?
by Georgiana Pintea Bentea, Brahim Berdaoui, Sophie Samyn, Marielle Morissens and Jose Castro Rodriguez
Diagnostics 2024, 14(13), 1434; https://doi.org/10.3390/diagnostics14131434 - 5 Jul 2024
Viewed by 395
Abstract
A 76-year-old male patient presented to the emergency room with acute decompensated right heart failure and presyncope episodes. Upon admission, his electrocardiogram (ECG) showed sustained monomorphic ventricular tachycardia at 180 bpm, which was electrically cardioverted, and the patient was subsequently admitted to the [...] Read more.
A 76-year-old male patient presented to the emergency room with acute decompensated right heart failure and presyncope episodes. Upon admission, his electrocardiogram (ECG) showed sustained monomorphic ventricular tachycardia at 180 bpm, which was electrically cardioverted, and the patient was subsequently admitted to the intensive care unit. The echocardiography showed a very dilated right ventricle (RV) with global systolic dysfunction and akinetic anterior and lateral walls. The coronary angiography was normal. The cardiac magnetic resonance showed signs of fibro-fatty replacement of the RV myocardium. Furthermore, the ECG after cardioversion showed inverted T waves and an epsilon wave in V1–V3 leads and late potentials by signal-averaged ECG. As such, a diagnosis of arrhythmogenic right ventricular cardiomyopathy (ARVC) was suspected. However, he presented no familial history of ARVC, was 76 years of age at the time of diagnosis and was asymptomatic until now. Given these considerations, we performed a right ventricular angiography which showed dilatation of the RV with akinetic/dyskinetic bulging, creating the “pile d’assiettes” image suggestive of ARVC. In the case of this patient, the RV angiography contributed to establish a diagnosis of ARVC with a very late presentation, to our knowledge the latest presentation in terms of age described in the literature. Full article
(This article belongs to the Section Medical Imaging and Theranostics)
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1], recently revised by the 2024 European Task Force consensus report [2]. However, he presented no familial history of ARVC, was 76 years of age at the time of diagnosis and was asymptomatic until now. Given these considerations, we performed a right ventricular angiography which showed dilatation of the RV with akinetic/dyskinetic bulging, creating the “pile d’assiettes” image suggestive of ARVC (Video S1). The RV angiography has a diagnostic specificity of more than 90% [3] and was considered the gold standard diagnostic exam for ARVC, particularly before the era of advancements in cardiac magnetic resonance imaging [4], while more recent studies on this subject are sparse. In the case of this patient, the RV angiography contributed to establish a diagnosis of ARVC with a very late presentation, to our knowledge the latest presentation in terms of age described in the literature. Subsequently, the patient was implanted with a defibrillator, and his family benefited from screening.

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Article
Performance Evaluation of Ultrasound Images Using Non-Local Means Algorithm with Adaptive Isotropic Search Window for Improved Detection of Salivary Gland Diseases: A Pilot Study
by Ji-Youn Kim
Diagnostics 2024, 14(13), 1433; https://doi.org/10.3390/diagnostics14131433 - 4 Jul 2024
Viewed by 368
Abstract
Speckle noise in ultrasound images (UIs) significantly reduces the accuracy of disease diagnosis. The aim of this study was to quantitatively evaluate its feasibility in salivary gland ultrasound imaging by modeling the adaptive non-local means (NLM) algorithm. UIs were obtained using an open-source [...] Read more.
Speckle noise in ultrasound images (UIs) significantly reduces the accuracy of disease diagnosis. The aim of this study was to quantitatively evaluate its feasibility in salivary gland ultrasound imaging by modeling the adaptive non-local means (NLM) algorithm. UIs were obtained using an open-source device provided by SonoSkills and FUJIFILM Healthcare Europe. The adaptive NLM algorithm automates optimization by modeling the isotropic search window, eliminating the need for manual configuration in conventional NLM methods. The coefficient of variation (COV), contrast-to-noise ratio (CNR), and edge rise distance (ERD) were used as quantitative evaluation parameters. UIs of the salivary glands revealed evident visualization of the internal echo shape of the malignant tumor and calcification line using the adaptive NLM algorithm. Improved COV and CNR results (approximately 4.62 and 2.15 times, respectively) compared with noisy images were achieved. Additionally, when the adaptive NLM algorithm was applied to the UIs of patients with salivary gland sialolithiasis, the noisy images and ERD values were calculated almost similarly. In conclusion, this study demonstrated the applicability of the adaptive NLM algorithm in optimizing search window parameters for salivary gland UIs. Full article
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Figure 3a. When using the adaptive NLM algorithm in the red arrow area, a clear edge line is visible in the internal echo part of the malignant tumor area.

Full article ">Figure 4. (a) Noisy image from applying conventional TV, the NLM algorithm, and the proposed adaptive NLM algorithm, and (b) UI resulting from enlarging the ROIA area in Figure 3b. The red arrow indicates that the edge can be clearly identified, which is one of the ultrasound imaging findings of malignant tumors.

Full article ">Figure 3c. When using the adaptive NLM algorithm in the red arrow area, a clear edge line is visible in the calcification area.

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15 pages, 5601 KiB  
Article
18F-FDG PET/CT- and MRI-Based Locally Advanced Cervical Cancer Early-Response Assessment after Concurrent Chemo- and Radiotherapy—Impact on Patient Outcomes and Survival Prediction
by Silvija Lucic, Milena Spirovski, Dragana Stojanovic, Andrea Peter, Jelena Licina, Olivera Ivanov, Natasa Milenovic and Milos A. Lucic
Diagnostics 2024, 14(13), 1432; https://doi.org/10.3390/diagnostics14131432 - 4 Jul 2024
Viewed by 369
Abstract
With one third of patients with locally advanced cervical cancer (LACC) expected to develop cancer recurrence in the first two years after therapy, accurate assessment of the response and timely detection of cancer recurrence after concurrent chemo- and radiotherapy (CCRT) treatment is of [...] Read more.
With one third of patients with locally advanced cervical cancer (LACC) expected to develop cancer recurrence in the first two years after therapy, accurate assessment of the response and timely detection of cancer recurrence after concurrent chemo- and radiotherapy (CCRT) treatment is of great importance. Although there is neither definite consensus about the preferred imaging modality, nor the time interval until the first diagnostic examination after CCRT, the National Comprehensive Cancer Network (NCCN) recommends the use of MRI and 18F-FDG PET/CT as a post-treatment LACC response-assessment imaging tools. In this study, we tried to appraise the early therapy response in LACC patients by both 18F-FDG PET/CT and MRI in regard to the follow-up imaging results and their mutual interrelationship, and to ascertain if the post-treatment 18F-FDG PET/CT and MRI results were related to the progression-free and overall survival rate in women with LACC after CCRT. We also aimed to estimate the early and follow-up diagnostic imaging impact on further therapy management. Based on our results, we concluded that 18F-FDG PET/CT did surpass MRI in the early assessment of therapeutic response in LACC patients after CCRT. Both modalities provided information that may serve as predictive biomarkers of outcome and LACC patients’ survival. Full article
(This article belongs to the Special Issue Application of PET/CT in Diagnosis and Treatment of Cancers)
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