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Diagnostics, Volume 14, Issue 11 (June-1 2024) – 145 articles

Cover Story (view full-size image): Hyperglycemia is a well-established cardiovascular disease risk. Hyperglycemia-induced vascular dysfunction can confound the outcomes from existing chronic cardiopulmonary diseases. Addressing preventive measures with regards to maintaining normoglycemia can not only improve clinical outcomes in diabetes, but also in chronic lung diseases such as asthma, pulmonary hypertension and chronic obstructive lung disease. Indeed, future preventive approaches that are informed by phenomics and machine learning may be able to predict which patients with underlying cardiopulmonary disease would benefit the most from nutritional and exercise regimens to reduce inflammation from borderline hyperglycemia, even before a formal diagnosis of diabetes is made. View this paper
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11 pages, 249 KiB  
Article
IL-6 Polymorphism as a Predisposing Genetic Factor for Gestational Diabetes or Preeclampsia Development in Pregnancy with Obesity in Relation to VEGF and VEGFF Receptor Gene Expression Modalities
by Panagiotis Halvatsiotis, Theodora Tsokaki, Vasileios Tsitsis, Lina Palaiodimou, Georgios Tsivgoulis, Iraklis Tsangaris, Maria Ourania Panagiotou and Dimitra Houhoula
Diagnostics 2024, 14(11), 1206; https://doi.org/10.3390/diagnostics14111206 - 6 Jun 2024
Viewed by 869
Abstract
The increased prevalence of obesity worldwide has been implicated in the alarming rise of the incidence of gestational diabetes and preeclampsia, which are both considered threatening conditions for both mother and fetus. We studied gene polymorphisms of the proinflammatory cytokine Interleukin 6 (IL-6) [...] Read more.
The increased prevalence of obesity worldwide has been implicated in the alarming rise of the incidence of gestational diabetes and preeclampsia, which are both considered threatening conditions for both mother and fetus. We studied gene polymorphisms of the proinflammatory cytokine Interleukin 6 (IL-6) and the gene expression levels of VEGF (vascular endothelial growth factor) and VEGF-R (endothelial growth factor receptor), all known to be involved in pregnancy complications, aiming to identify possible predisposing risk factors in pregnancies with obesity. The G allele of IL-6 was found to correspond with an increased risk for gestational diabetes and preeclampsia occurrence. Furthermore, in obese pregnant mothers with either gestational diabetes or pre-existing type 2 diabetes and those who developed preeclampsia, it was confirmed that gene expression levels of VEGF were reduced while they were increased for VEGF receptors. We conclude that the genetic profile of an obese pregnant woman shares a common background with that of a patient with pre-existing type 2 diabetes mellitus, and therefore predisposes them to complications in pregnancy. Full article
(This article belongs to the Section Pathology and Molecular Diagnostics)
11 pages, 885 KiB  
Article
Gastro-Esophageal Cancer: Can Radiomic Parameters from Baseline 18F-FDG-PET/CT Predict the Development of Distant Metastatic Disease?
by Ricarda Hinzpeter, Seyed Ali Mirshahvalad, Roshini Kulanthaivelu, Andres Kohan, Claudia Ortega, Ur Metser, Amy Liu, Adam Farag, Elena Elimova, Rebecca K. S. Wong, Jonathan Yeung, Raymond Woo-Jun Jang and Patrick Veit-Haibach
Diagnostics 2024, 14(11), 1205; https://doi.org/10.3390/diagnostics14111205 - 6 Jun 2024
Viewed by 997
Abstract
We aimed to determine if clinical parameters and radiomics combined with sarcopenia status derived from baseline 18F-FDG-PET/CT could predict developing metastatic disease and overall survival (OS) in gastroesophageal cancer (GEC). Patients referred for primary staging who underwent 18F-FDG-PET/CT from 2008 to [...] Read more.
We aimed to determine if clinical parameters and radiomics combined with sarcopenia status derived from baseline 18F-FDG-PET/CT could predict developing metastatic disease and overall survival (OS) in gastroesophageal cancer (GEC). Patients referred for primary staging who underwent 18F-FDG-PET/CT from 2008 to 2019 were evaluated retrospectively. Overall, 243 GEC patients (mean age = 64) were enrolled. Clinical, histopathology, and sarcopenia data were obtained, and primary tumor radiomics features were extracted. For classification (early-stage vs. advanced disease), the association of the studied parameters was evaluated. Various clinical and radiomics models were developed and assessed. Accuracy and area under the curve (AUC) were calculated. For OS prediction, univariable and multivariable Cox analyses were performed. The best model included PET/CT radiomics features, clinical data, and sarcopenia score (accuracy = 80%; AUC = 88%). For OS prediction, various clinical, CT, and PET features entered the multivariable analysis. Three clinical factors (advanced disease, age ≥ 70 and ECOG ≥ 2), along with one CT-derived and one PET-derived radiomics feature, retained their significance. Overall, 18F-FDG PET/CT radiomics seems to have a potential added value in identifying GEC patients with advanced disease and may enhance the performance of baseline clinical parameters. These features may also have a prognostic value for OS, improving the decision-making for GEC patients. Full article
(This article belongs to the Special Issue Abdominal Imaging: Recent Advances and Future Trends)
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<p>(<b>a</b>) Receiver operating characteristic curve and (<b>b</b>) confusion matrix of the final best model developed by Light Gradient Boosting Machine (LGBM) classifier.</p>
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<p>Kaplan–Meier survival curves of the two significant radiomics features from the multivariable Cox analysis to predict overall survival: (<b>a</b>) CT-derived and (<b>b</b>) PET-derived.</p>
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18 pages, 1821 KiB  
Article
Enhancing Medical Image Retrieval with UMLS-Integrated CNN-Based Text Indexing
by Karim Gasmi, Hajer Ayadi and Mouna Torjmen
Diagnostics 2024, 14(11), 1204; https://doi.org/10.3390/diagnostics14111204 - 6 Jun 2024
Viewed by 878
Abstract
In recent years, Convolutional Neural Network (CNN) models have demonstrated notable advancements in various domains such as image classification and Natural Language Processing (NLP). Despite their success in image classification tasks, their potential impact on medical image retrieval, particularly in text-based medical image [...] Read more.
In recent years, Convolutional Neural Network (CNN) models have demonstrated notable advancements in various domains such as image classification and Natural Language Processing (NLP). Despite their success in image classification tasks, their potential impact on medical image retrieval, particularly in text-based medical image retrieval (TBMIR) tasks, has not yet been fully realized. This could be attributed to the complexity of the ranking process, as there is ambiguity in treating TBMIR as an image retrieval task rather than a traditional information retrieval or NLP task. To address this gap, our paper proposes a novel approach to re-ranking medical images using a Deep Matching Model (DMM) and Medical-Dependent Features (MDF). These features incorporate categorical attributes such as medical terminologies and imaging modalities. Specifically, our DMM aims to generate effective representations for query and image metadata using a personalized CNN, facilitating matching between these representations. By using MDF, a semantic similarity matrix based on Unified Medical Language System (UMLS) meta-thesaurus, and a set of personalized filters taking into account some ranking features, our deep matching model can effectively consider the TBMIR task as an image retrieval task, as previously mentioned. To evaluate our approach, we performed experiments on the medical ImageCLEF datasets from 2009 to 2012. The experimental results show that the proposed model significantly enhances image retrieval performance compared to the baseline and state-of-the-art approaches. Full article
(This article belongs to the Special Issue Medical Data Processing and Analysis—2nd Edition)
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<p>Overview of the Deep Matching Model.</p>
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<p>Medical -Dependent Features.</p>
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<p>Query matrix extraction process.</p>
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<p>The architecture of the personalized CNN model.</p>
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<p>Some examples of ImageCLEF medical images and their extracted MDF.</p>
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<p>Results according to <math display="inline"><semantics> <mi>α</mi> </semantics></math> using 4 ImageCLEF datasets 2009, 2010, 2011 and 2012.</p>
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11 pages, 3001 KiB  
Article
Clinical and Hemodynamic Features of Aneurysm Rupture in Coil Embolization of Intracranial Aneurysms
by Tomoaki Suzuki, Hitoshi Hasegawa, Kohei Shibuya, Hidemoto Fujiwara and Makoto Oishi
Diagnostics 2024, 14(11), 1203; https://doi.org/10.3390/diagnostics14111203 - 6 Jun 2024
Viewed by 1035
Abstract
Intraprocedural rupture (IPR) during coil embolization (CE) of an intracranial aneurysm is a significant clinical concern that necessitates a comprehensive understanding of its clinical and hemodynamic predictors. Between January 2012 and December 2023, 435 saccular cerebral aneurysms were treated with CE at our [...] Read more.
Intraprocedural rupture (IPR) during coil embolization (CE) of an intracranial aneurysm is a significant clinical concern that necessitates a comprehensive understanding of its clinical and hemodynamic predictors. Between January 2012 and December 2023, 435 saccular cerebral aneurysms were treated with CE at our institution. The inclusion criterion was extravasation or coil protrusion during CE. Postoperative data were used to confirm rupture points, and computational fluid dynamics (CFD) analysis was performed to assess hemodynamic characteristics, focusing on maximum pressure (Pmax) and wall shear stress (WSS). IPR occurred in six aneurysms (1.3%; three ruptured and three unruptured), with a dome size of 4.7 ± 1.8 mm and a D/N ratio of 1.5 ± 0.5. There were four aneurysms in the internal carotid artery (ICA), one in the anterior cerebral artery, and one in the middle cerebral artery. ICA aneurysms were treated using adjunctive techniques (three balloon-assisted, one stent-assisted). Two aneurysms (M1M2 and A1) were treated simply, yet had relatively small and misaligned domes. CFD analysis identified the rupture point as a flow impingement zone with Pmax in five aneurysms (83.3%). Time-averaged WSS was locally reduced around this area (1.3 ± 0.7 [Pa]), significantly lower than the aneurysmal dome (p < 0.01). Hemodynamically unstable areas have fragile, thin walls with rupture risk. A microcatheter was inserted along the inflow zone, directed towards the caution area. These findings underscore the importance of identifying hemodynamically unstable areas during CE. Adjunctive techniques should be applied with caution, especially in small aneurysms with axial misalignment, to minimize the rupture risk. Full article
(This article belongs to the Special Issue Advances in Cerebrovascular Imaging and Interventions)
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<p>In Case 1, an unruptured right internal carotid paraclinoid aneurysm (dome size: 6.5 mm) was treated by balloon-assisted coiling. (<b>a</b>) Volume rendering (VR) image (pretreatment). (<b>b</b>) Digital subtraction angiography (DSA) image (pretreatment). (<b>c</b>) Extravasation after inserting the framing coil. (<b>d</b>) Coil protrusion from intraprocedural rupture (IPR) site (yellow arrow). (<b>e</b>) VR image (posttreatment) and coil protrusion from IPR site (yellow arrow). (<b>f</b>) The IPR site corresponds to the flow impingement zone (yellow arrow). (<b>g</b>) The IPR site corresponds to the maximum pressure area (yellow arrow). (<b>h</b>) Wall shear stress decreased locally around the IPR site (white arrow: TAWSS 0.9 [Pa]).</p>
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<p>In Case 2, an unruptured recurrent left internal carotid—posterior communicating artery aneurysm (dome size: 5.0 mm) was treated by stent-assisted coiling. (<b>a</b>) Volume rendering (VR) image (pretreatment). (<b>b</b>) Digital subtraction angiography (DSA) image (pretreatment). (<b>c</b>) Stent-assisted coiling with LVIS and the head of the microcatheter (yellow arrow). (<b>d</b>) Extravasation after inserting the filling coil and the rupture point of the aneurysmal dome around the head of the microcatheter. (<b>e</b>) The IPR site corresponds to the flow impingement zone (yellow arrow). (<b>f</b>) The IPR site corresponds to the maximum pressure area (yellow arrow). (<b>g</b>) Wall shear stress decreased locally around the IPR site (yellow arrow). (<b>h</b>) Localized low TAWSS around the IPR site is 1.5 [Pa] (white arrow).</p>
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<p>In Case 3, a ruptured left middle cerebral artery aneurysm (dome size: 4.0 mm) was treated by simple coiling. (<b>a</b>) Volume rendering (VR) image (pretreatment). (<b>b</b>) Digital subtraction angiography (DSA) image (pretreatment). (<b>c</b>) Coil protrusion from intraprocedural rupture (IPR) site (yellow arrow). (<b>d</b>) The IPR site corresponds to the flow impingement zone (yellow arrow). (<b>e</b>) The IPR site corresponds to the maximum pressure area (yellow arrow). (<b>f</b>) Wall shear stress decreased locally around the IPR site (yellow arrow: TAWSS 2.3 [Pa]).</p>
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<p>In Case 4, a ruptured left internal carotid—posterior communicating artery aneurysm (dome size: 6.8 mm) was treated by balloon-assisted coiling. (<b>a</b>) Volume rendering (VR) image (pretreatment). (<b>b</b>) Digital subtraction angiography (DSA) image (pretreatment). (<b>c</b>) Coil protrusion from intraprocedural rupture (IPR) site (yellow arrow). (<b>d</b>) The IPR site corresponds to the flow impingement zone (yellow arrow). (<b>e</b>) The IPR site corresponds to the maximum pressure area (yellow arrow). (<b>f</b>) Wall shear stress decreased locally around the IPR site (yellow arrow: TAWSS 1.6 [Pa]).</p>
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8 pages, 391 KiB  
Brief Report
Evaluating the Compatibility of the Digit-in-Noise Test with Hearing Screening in Individuals with Intellectual Disabilities: A Pilot Study
by Noa Shmerler, Ronit Saban-Bezalel and Leah Fostick
Diagnostics 2024, 14(11), 1202; https://doi.org/10.3390/diagnostics14111202 - 6 Jun 2024
Viewed by 750
Abstract
Hearing impairment among adults with intellectual disability (ID) is notably prevalent yet frequently underdiagnosed due, in part, to the challenges associated with traditional hearing screening methods in this population. This study explores the effectiveness of the Digit-in-Noise (DIN) test as a viable alternative [...] Read more.
Hearing impairment among adults with intellectual disability (ID) is notably prevalent yet frequently underdiagnosed due, in part, to the challenges associated with traditional hearing screening methods in this population. This study explores the effectiveness of the Digit-in-Noise (DIN) test as a viable alternative for hearing screening within natural settings and with familiar personnel. A total of 16 Hebrew-speaking adults with ID were recruited from supported employment programs, 10 of whom completed the study. The DIN test, which was administered in a daily environment using a simple digital device, evaluated the speech recognition threshold in noise. Results indicated that while some participants performed comparably to typically developing individuals, others showed varying levels of hearing thresholds, suggesting diverse auditory capabilities within the ID population. This pilot study confirms that the DIN test can be feasibly integrated into routine care settings, offering a friendly and accessible method for assessing hearing abilities in adults with ID. The findings advocate for the broader adoption of and potential modifications to the DIN Test to enhance its applicability and inclusiveness, thereby improving diagnostic accuracy and subsequent auditory care for this underserved population. Full article
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<p>The recruitment process.</p>
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16 pages, 666 KiB  
Review
The Use of Physiotherapy in the Conservative Treatment of Cubital Tunnel Syndrome: A Critical Review of the Literature
by Michał Wieczorek, Rafał Gnat and Tomasz Wolny
Diagnostics 2024, 14(11), 1201; https://doi.org/10.3390/diagnostics14111201 - 6 Jun 2024
Viewed by 1135
Abstract
Background: The lack of a clear answer regarding the efficacy of physiotherapy in the treatment of cubital tunnel syndrome (CuTS) has led to attempts to critically assess the scientific studies conducted to date. Materials and Methods: Two databases (MEDLINE via PubMed and PEDro) [...] Read more.
Background: The lack of a clear answer regarding the efficacy of physiotherapy in the treatment of cubital tunnel syndrome (CuTS) has led to attempts to critically assess the scientific studies conducted to date. Materials and Methods: Two databases (MEDLINE via PubMed and PEDro) and Google Scholar were used to search for papers. The inclusion criteria were randomized controlled trials, case series, and case reports that evaluate the effects of physiotherapy in the treatment of patients with CuTS. Results: A total of 18 studies met the eligibility criteria, capturing a total of 425 participants. Seven papers were randomized controlled trials, three more described prospective studies without a control group, and eight papers contained case reports. An analysis of the literature evaluating the effectiveness of various forms of broadly defined physiotherapy indicates that their use can have a beneficial effect in reducing many subjective and objective symptoms and improving function. In the majority of papers included in this review, their authors indicated positive therapeutic effects. Only one randomized controlled trial reported no change following therapy. It can therefore be stated that the results of the research conducted so far are optimistic. However, only 7 of the 18 papers were randomized controlled trials, while 3 were prospective studies, and 8 papers were case studies, in which 23 people with CuTS were studied. Conclusions: The small number of randomized clinical trials and their considerable heterogeneity do not allow firm conclusions to be drawn about the effectiveness of physiotherapy in the conservative treatment of CuTS. Full article
(This article belongs to the Section Pathology and Molecular Diagnostics)
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<p>Flow charts.</p>
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15 pages, 1360 KiB  
Article
Management and Rehabilitative Treatment in Osteoarthritis with a Novel Physical Therapy Approach: A Randomized Control Study
by Teresa Paolucci, Marco Tommasi, Giannantonio Pozzato, Alessandro Pozzato, Letizia Pezzi, Mariachiara Zuccarini, Alessio Di Lanzo, Rocco Palumbo, Daniele Porto, Riccardo Messeri, Mirko Pesce, Andrea Pantalone, Roberto Buda and Antonia Patruno
Diagnostics 2024, 14(11), 1200; https://doi.org/10.3390/diagnostics14111200 - 6 Jun 2024
Viewed by 1238
Abstract
Knee osteoarthritis (KOA) is a chronic degenerative disease characterized by progressive joint damage leading to significant disability. Although rehabilitative treatment methods for KOA have been widely implemented, the optimal integrated instrumental physical therapy approach remains unclear. Therefore, this study aimed to analyze the [...] Read more.
Knee osteoarthritis (KOA) is a chronic degenerative disease characterized by progressive joint damage leading to significant disability. Although rehabilitative treatment methods for KOA have been widely implemented, the optimal integrated instrumental physical therapy approach remains unclear. Therefore, this study aimed to analyze the effect of Quantum Molecular Resonance (QMR) on pain reduction as the primary outcome and the functional improvement in activity daily living (ADL) as a secondary outcome. The study was designed as a double-blind, randomized, controlled trial in an outpatient setting. Fifty-four (N = 54) patients were enrolled and then randomized into three groups according to a simple randomization list: Group 1 (intensive protocol, N = 22), Group 2 (extensive protocol, N = 21), and a Sham group (N = 11). Patients were evaluated over time with scales assessing pain and function. Treatment was performed with the QMR model electro-medical device, which generates alternating electric currents characterized by high frequency (4–64 MHz). The results showed that QMR had a positive effect with respect to the Sham group in terms of pain and function (p < 0.01), and intensive treatment was more effective than the extensive treatment in terms of “speed of response” to the treatment (p < 0.05). In conclusion, QMR in KOA could be effective in slowing the progression of clinical symptoms and improving patients’ pain and functionality and thus quality of life. Future studies will be necessary to investigate further treatment algorithms and therapeutic associations with rehabilitative exercise. Full article
(This article belongs to the Special Issue Rehabilitation Medicine: Diagnosis and Management)
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<p>Flow chart of the study.</p>
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<p><b>Arrangement of electrodes.</b> Electrode No. 1: on the skin region corresponding to the supra-patellar area; electrode No. 2: on the skin region corresponding to the area between the medial femoral condyle and the medial tibial condyle; electrode No. 3: on the skin region corresponding to the area between the lateral femoral condyle and the lateral tibial condyle; electrode No. 4: on the skin region corresponding to the popliteal area.</p>
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<p>Mean scores of VAS, KOOS-I, and Lysholm-S in relation to time periods. Separate lines indicate different groups. Error bars indicate standard errors. <span class="html-italic">Note:</span> VAS = Visual Analog Scale; KOOS-I = Knee Osteoarthritis Outcome Score-Injury: Lysholm-S = Lysholm Knee Scoring Scale. T0 = pre-treatment period; T1 = post-treatment period; T2 = follow-up period.</p>
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11 pages, 2757 KiB  
Article
Deep Learning-Based High-Resolution Magnetic Resonance Angiography (MRA) Generation Model for 4D Time-Resolved Angiography with Interleaved Stochastic Trajectories (TWIST) MRA in Fast Stroke Imaging
by Bo Kyu Kim, Sung-Hye You, Byungjun Kim and Jae Ho Shin
Diagnostics 2024, 14(11), 1199; https://doi.org/10.3390/diagnostics14111199 - 6 Jun 2024
Viewed by 1186
Abstract
Purpose: The purpose of this study is to improve the qualitative and quantitative image quality of the time-resolved angiography with interleaved stochastic trajectories technique (4D-TWIST-MRA) using deep neural network (DNN)-based MR image reconstruction software. Materials and Methods: A total of 520 consecutive patients [...] Read more.
Purpose: The purpose of this study is to improve the qualitative and quantitative image quality of the time-resolved angiography with interleaved stochastic trajectories technique (4D-TWIST-MRA) using deep neural network (DNN)-based MR image reconstruction software. Materials and Methods: A total of 520 consecutive patients underwent 4D-TWIST-MRA for ischemic stroke or intracranial vessel stenosis evaluation. Four-dimensional DNN-reconstructed MRA (4D-DNR) was generated using commercially available software (SwiftMR v.3.0.0.0, AIRS Medical, Seoul, Republic of Korea). Among those evaluated, 397 (76.3%) patients received concurrent time-of-flight MRA (TOF-MRA) to compare the signal-to-noise ratio (SNR), image quality, noise, sharpness, vascular conspicuity, and degree of venous contamination with a 5-point Likert scale. Two radiologists independently evaluated the detection rate of intracranial aneurysm in TOF-MRA, 4D-TWIST-MRA, and 4D-DNR in separate sessions. The other 123 (23.7%) patients received 4D-TWIST-MRA due to a suspicion of acute ischemic stroke. The confidence level and decision time for large vessel occlusion were evaluated in these patients. Results: In qualitative analysis, 4D-DNR demonstrated better overall image quality, sharpness, vascular conspicuity, and noise reduction compared to 4D-TWIST-MRA. Moreover, 4D-DNR exhibited a higher SNR than 4D-TWIST-MRA. The venous contamination and aneurysm detection rates were not significantly different between the two MRA images. When compared to TOF-MRA, 4D-CE-MRA underestimated the aneurysm size (2.66 ± 0.51 vs. 1.75 ± 0.62, p = 0.029); however, 4D-DNR showed no significant difference in size compared to TOF-MRA (2.66 ± 0.51 vs. 2.10 ± 0.41, p = 0.327). In the diagnosis of large vessel occlusion, 4D-DNR showed a better confidence level and shorter decision time than 4D-TWIST-MRA. Conclusion: DNN reconstruction may improve the qualitative and quantitative image quality of 4D-TWIST-MRA, and also enhance diagnostic performance for intracranial aneurysm and large vessel occlusion. Full article
(This article belongs to the Special Issue Clinical Advances and Applications in Neuroradiology)
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<p>ROI measurement. Signal intensity values were measured by placing circular region of interest on M1, M2, M3, basilar artery, and background.</p>
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<p>Schematic flow of study design. Four-dimensional DNR images were obtained using SwiftMR software based on the 4D-TWIST-MRA. One hundred and twenty-three patients underwent 4D-TWIST-MRA under suspicion of large vessel occlusion. The remaining 397 patients underwent concurrent TOF-MRA for intracranial artery evaluation. The clinical usefulness of each MRA modality was evaluated according to clinical setting.</p>
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<p>Maximum intensity projection images of 4D-TWIST-MRA (<b>A</b>), 4D-DNR (<b>B</b>), and TOF-MRA (<b>C</b>). Sharpness and vascular conspicuity of 4D-DNR were improved, and background noise was significantly reduced after denoising. Venous contamination (e.g., high signal intensity in bilateral sigmoid sinus, arrows in (<b>A</b>,<b>B</b>)) was not changed after denoising.</p>
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<p>Comparison between 4D-TWIST-MRA (<b>A</b>,<b>B</b>) and 4D-DNR (<b>C</b>,<b>D</b>). Stent placement state at left carotid artery. In subjective evaluation, 4D-DNR showed better overall image quality, vascular conspicuity, and sharpness.</p>
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<p>Comparison of aneurysm size measurement. The sizes of anterior communicating artery aneurysm (arrows) were measured as 4.26 mm, 4.67 mm, and 5.23 mm in 4D-TWIST MRA (<b>A</b>), 4D-DNR (<b>B</b>), and TOF-MRA (<b>C</b>), respectively.</p>
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<p>Large vessel occlusion detection. Four-dimensional TWIST-MRA (<b>A</b>) and 4D-DNR (<b>B</b>) showed filling defect at the left distal middle cerebral artery (arrows). Subsequent perfusion MRI (<b>C</b>), TOF-MRA (<b>D</b>), and susceptibility weighted image (<b>E</b>) confirmed thrombus (blooming artifact, arrow) with territorial perfusion delay.</p>
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8 pages, 406 KiB  
Article
Maternal Reassurance, Satisfaction, and Anxiety after First-Trimester Screening for Aneuploidies: Comparison between Contingent Screening and Universal Cell-Free DNA Testing
by Anna Luna Tramontano, Ilaria Marano, Giuliana Orlandi, Antonio Angelino, Maria Rivieccio, Caterina Fulgione, Giuseppe Maria Maruotti, Gabriele Saccone, Gabriella De Vita, Maurizio Guida and Laura Sarno
Diagnostics 2024, 14(11), 1198; https://doi.org/10.3390/diagnostics14111198 - 6 Jun 2024
Viewed by 712
Abstract
Background: This study aims to evaluate maternal reassurance, satisfaction, and anxiety after two different strategies for the first-trimester screening for aneuploidies. Methods: Patients between 11 + 3 and 13 + 6 weeks of gestation attending the first-trimester screening at Department of Mother and [...] Read more.
Background: This study aims to evaluate maternal reassurance, satisfaction, and anxiety after two different strategies for the first-trimester screening for aneuploidies. Methods: Patients between 11 + 3 and 13 + 6 weeks of gestation attending the first-trimester screening at Department of Mother and Child, University Hospital Federico II, Naples, Italy have been recruited and randomly allocated to contingent screening or universal cell-free fetal DNA testing (cffDNA). Questionnaires to measure reassurance, satisfaction, and anxiety have been filled twice: (Q1) after randomization and (Q2) after receiving results. Anxiety was measured by an Italian-version short form of the state scale of the Spielberger State–Trait Anxiety Inventory (STAI); child-related anxiety was measured by the 11-item Pregnancy-Related Anxiety Questionnaire—Revised Regardless of Parity (PRAQ-R2 scale); fear of bearing a physically or mentally handicapped child was measured considering only four items (item 4, 9, 10, and 11) of the PRAQ-R2 scale. Results: 431 patients were recruited: 205 (49%) were randomized in the contingent screening arm, 226 (51%) in the cfDNA arm. Maternal reassurance, satisfaction, and anxiety were not different in the two groups. Conclusion: A contingent screening for aneuploidies in the first trimester seems able to ensure the same maternal reassurance and satisfaction as a cfDNA analysis in the low-risk population and to not affect maternal anxiety. Full article
(This article belongs to the Special Issue Insights into Perinatal Medicine and Fetal Medicine)
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<p>Study protocol. * Patients excluded after Q1, due to high risk at first-trimester screening.</p>
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8 pages, 707 KiB  
Article
Dynamic Perviousness: A Novel Imaging Marker for Predicting Mechanical Thrombectomy Outcomes in Acute Ischemic Stroke
by Daniel F. Toth, Gergely Bertalan, Priska Heinz, Jawid Madjidyar, Patrick Thurner, Tilman Schubert and Zsolt Kulcsar
Diagnostics 2024, 14(11), 1197; https://doi.org/10.3390/diagnostics14111197 - 6 Jun 2024
Viewed by 812
Abstract
Background: The predictive value of thrombus standard perviousness (SP) in acute ischemic stroke (AIS) for the technical success rates of mechanical thrombectomy (MT) or functional outcomes is not yet conclusive. We investigated the relationship between dynamic perviousness (DP) and revascularization results using time-dependent [...] Read more.
Background: The predictive value of thrombus standard perviousness (SP) in acute ischemic stroke (AIS) for the technical success rates of mechanical thrombectomy (MT) or functional outcomes is not yet conclusive. We investigated the relationship between dynamic perviousness (DP) and revascularization results using time-dependent enhancement curve types determined with computed tomography (CT). Methods: A retrospective analysis of 137 AIS patients was performed. DP was calculated as the thrombus attenuation increase (TAI) using three time points and categorized into four groups: (1) no enhancement (CNE); (2) late enhancement (CLE); (3) early enhancement with washout (CW); (4) early enhancement without washout (CNW). Associations with the technical success rate and functional outcomes were assessed. Results: Late enhancement (CLE) had approximately two times higher odds for successful MT as compared to clots with other enhancement dynamics. The odds ratios (logistic regression model with CNW as the reference) for the TICI III scores were 4.04 (p = 0.067), 1.82 (p = 0.3), and 1.69 (p = 0.4) for CLE, CW, and CNE, respectively. The NIHSS scores at discharge and mRS scores at three months showed regression coefficients (linear regression model with CNW as reference) of −3.05 (p = 0.10), −1.17 (p = 0.51), and −1.24 (p = 0.47); and −1.30 (p = 0.097), −0.85 (p = 0.25), and −0.15 (p = 0.83) for CLE, CW, and CNE, respectively. Conclusions: Thrombi with late enhancement patterns showed a higher revascularization rate and better outcomes as compared to clots with early uptake or no washout. Full article
(This article belongs to the Special Issue Advances in Cerebrovascular Imaging and Interventions)
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<p>Flowchart of inclusion and exclusion criteria.</p>
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<p>NCCT (<b>A</b>), CTA (<b>B</b>), and CTV (<b>C</b>) images of our clinical protocol for a patient with distal ICA and proximal M1 occlusions on the left side. The TAI was calculated between the NCCT and CTA, NCCT and CTV, and CTA and CTV results using spherically defined ROIs as illustrated in (<b>D</b>), overlaid on the NCCT image. The ROIs were defined manually by considering the clot area based on the NCCT and CTV results.</p>
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11 pages, 901 KiB  
Article
Myocardial Work Indices Predict Hospitalization in Patients with Advanced Heart Failure
by Giulia Elena Mandoli, Federico Landra, Benedetta Chiantini, Lorenzo Bonadiman, Maria Concetta Pastore, Marta Focardi, Flavio D’Ascenzi, Matteo Lisi, Enrico Emilio Diviggiano, Luca Martini, Sonia Bernazzali, Serafina Valente, Massimo Maccherini, Matteo Cameli and Michael Y. Henein
Diagnostics 2024, 14(11), 1196; https://doi.org/10.3390/diagnostics14111196 - 6 Jun 2024
Viewed by 1166
Abstract
Background: An increasing proportion of heart failure (HF) patients progress to the advanced stage (AdHF) with high event rates and limited treatment options. Echocardiography, particularly Speckle Tracking-derived myocardial work (MW), is useful for HF diagnosis and prognosis. We aimed to assess MW’s feasibility [...] Read more.
Background: An increasing proportion of heart failure (HF) patients progress to the advanced stage (AdHF) with high event rates and limited treatment options. Echocardiography, particularly Speckle Tracking-derived myocardial work (MW), is useful for HF diagnosis and prognosis. We aimed to assess MW’s feasibility in the prognostic stratification of AdHF. Methods: We retrospectively screened patients with AdHF who accessed our hospital in 2018–2022. We excluded subjects with inadequate acoustic windows; unavailable brachial artery cuff pressure at the time of the echocardiography; atrial fibrillation; and mitral or aortic regurgitation. We measured standard parameters and left ventricular (LV) strain (LS) and MW. The population was followed up to determine the composite outcomes of all-cause mortality, left ventricular assist device implantation and heart transplantation (primary endpoint), as well as unplanned HF hospitalization (secondary endpoint). Results: We enrolled 138 patients, prevalently males (79.7%), with a median age of 58 years (IQR 50–62). AdHF etiology was predominantly non-ischemic (65.9%). Thirty-five patients developed a composite event during a median follow-up of 636 days (IQR 323–868). Diastolic function, pulmonary pressures, and LV GLS and LV MW indices were not associated with major events. Contrarily, for the secondary endpoint, the hazard ratio for each increase in global work index (GWI) by 50 mmHg% was 0.90 (p = 0.025) and for each increase in global constructive work (GCW) by 50 mmHg% was 0.90 (p = 0.022). Kaplan–Meier demonstrated better endpoint-free survival, with an LV GWI ≥ 369 mmHg%. Conclusions: GWI and GCW, with good feasibility, can help in the better characterization of patients with AdHF at higher risk of HF hospitalization and adverse events, identifying the need for closer follow-up or additional HF therapy. Full article
(This article belongs to the Section Medical Imaging and Theranostics)
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<p>ROC curve of LV global longitudinal strain (GLS), LV global work index (GWI) and LV global constructive work (GCW) for the composite endpoint.</p>
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<p>Event-free survival for global work index.</p>
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11 pages, 2637 KiB  
Article
CXCR4 Expression as a Prognostic Biomarker in Soft Tissue Sarcomas
by Anna C. Virgili, Juliana Salazar, Alberto Gallardo, Antonio López-Pousa, Raúl Terés, Silvia Bagué, Ruth Orellana, Caterina Fumagalli, Ramon Mangues, Lorena Alba-Castellón, Ugutz Unzueta, Isolda Casanova and Ana Sebio
Diagnostics 2024, 14(11), 1195; https://doi.org/10.3390/diagnostics14111195 - 6 Jun 2024
Viewed by 1025
Abstract
Poor long-term survival in localized high-risk soft tissue sarcomas (STSs) of the extremities and trunk highlights the need to identify new prognostic factors. CXCR4 is a chemokine receptor involved in tumor progression, angiogenesis, and metastasis. The aim of this study was to evaluate [...] Read more.
Poor long-term survival in localized high-risk soft tissue sarcomas (STSs) of the extremities and trunk highlights the need to identify new prognostic factors. CXCR4 is a chemokine receptor involved in tumor progression, angiogenesis, and metastasis. The aim of this study was to evaluate the association between CXCR4 expression in tumor tissue and survival in STSs patients treated with neoadjuvant therapy. CXCR4 expression was retrospectively determined by immunohistochemical analysis in serial specimens including initial biopsies, tumors post-neoadjuvant treatment, and tumors after relapse. We found that a positive cytoplasmatic expression of CXCR4 in tumors after neoadjuvant treatment was a predictor of poor recurrence-free survival (RFS) (p = 0.003) and overall survival (p = 0.019) in synovial sarcomas. We also found that positive nuclear CXCR4 expression in the initial biopsies was associated with poor RFS (p = 0.022) in undifferentiated pleomorphic sarcomas. In conclusion, our study adds to the evidence that CXCR4 expression in tumor tissue is a promising prognostic factor for STSs. Full article
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<p>Examples of CXCR4 expression determined by immunohistochemistry. (<b>1-A</b>) CXCR4 nuclear and cytoplasmatic positive immunostaining in high-grade spindle cell sarcoma (20×). (<b>1-B</b>) CXCR4 negative immunostaining in undifferentiated pleomorphic sarcoma (20×). (<b>1-C</b>) CXCR4 nuclear positive immunostaining in synovial sarcoma (20×). (<b>2-A</b>) CXCR4 cytoplasmatic positive immunostaining in the initial biopsy of a 46-year-old woman with biphasic synovial sarcoma (20×). (<b>2-B</b>) CXCR4 negative immunostaining in post-neoadjuvant treatment biopsy of a 46-year-old woman with biphasic synovial sarcoma (20×).</p>
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<p>CXCR4 expression in the evolution of the STSs tumors: before and after neoadjuvant treatment and post-relapse.</p>
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<p>Overall survival according to cytoplasmatic CXCR4 expression in post-neoadjuvant surgical samples.</p>
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<p>(<b>A</b>) Recurrence-free survival according to cytoplasmatic CXCR4 expression in post-neoadjuvant surgical samples from patients with synovial sarcoma. (<b>B</b>) Overall survival according to cytoplasmatic CXCR4 expression in post-neoadjuvant surgical samples obtained from patients with synovial sarcoma.</p>
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<p>Recurrence-free survival according to nuclear CXCR4 expression in the initial biopsies for patients with undifferentiated pleomorphic sarcoma.</p>
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15 pages, 2123 KiB  
Article
Sodium–Glucose Cotransporter 2 Inhibitor Combined with Conventional Diuretics Ameliorate Body Fluid Retention without Excessive Plasma Volume Reduction
by Maki Asakura-Kinoshita, Takahiro Masuda, Kentaro Oka, Ken Ohara, Marina Miura, Masato Morinari, Kyohei Misawa, Yasuharu Miyazawa, Tetsu Akimoto, Kazuyuki Shimada and Daisuke Nagata
Diagnostics 2024, 14(11), 1194; https://doi.org/10.3390/diagnostics14111194 - 5 Jun 2024
Cited by 3 | Viewed by 1548
Abstract
We previously reported that sodium–glucose cotransporter 2 (SGLT2) inhibitors exert sustained fluid homeostatic actions through compensatory increases in osmotic diuresis-induced vasopressin secretion and fluid intake. However, SGLT2 inhibitors alone do not produce durable amelioration of fluid retention. In this study, we examined the [...] Read more.
We previously reported that sodium–glucose cotransporter 2 (SGLT2) inhibitors exert sustained fluid homeostatic actions through compensatory increases in osmotic diuresis-induced vasopressin secretion and fluid intake. However, SGLT2 inhibitors alone do not produce durable amelioration of fluid retention. In this study, we examined the comparative effects of the SGLT2 inhibitor dapagliflozin (SGLT2i group, n = 53) and the combined use of dapagliflozin and conventional diuretics, including loop diuretics and/or thiazides (SGLT2i + diuretic group, n = 23), on serum copeptin, a stable, sensitive, and simple surrogate marker of vasopressin release and body fluid status. After six months of treatment, the change in copeptin was significantly lower in the SGLT2i + diuretic group than in the SGLT2i group (−1.4 ± 31.5% vs. 31.5 ± 56.3%, p = 0.0153). The change in the estimated plasma volume calculated using the Strauss formula was not significantly different between the two groups. Contrastingly, changes in interstitial fluid, extracellular water, intracellular water, and total body water were significantly lower in the SGLT2i + diuretic group than in the SGLT2i group. Changes in renin, aldosterone, and absolute epinephrine levels were not significantly different between the two groups. In conclusion, the combined use of the SGLT2 inhibitor dapagliflozin and conventional diuretics inhibited the increase in copeptin levels and remarkably ameliorated fluid retention without excessively reducing plasma volume and activating the renin–angiotensin–aldosterone and sympathetic nervous systems. Full article
(This article belongs to the Special Issue Kidney Disease: Biomarkers, Diagnosis, and Prognosis: 3rd Edition)
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<p>Comparing percentage changes in copeptin (<b>A</b>), serum Na<sup>+</sup> (<b>B</b>), and serum osmolarity (<b>C</b>) between the SGLT2i group and the SGLT2i + diuretic groups after 6 months. SGLT2i, SGLT2 inhibitor dapagliflozin; SGLT2i + diuretic, dapagliflozin, and diuretic (loop or thiazide diuretic).</p>
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<p>Comparing percentage changes in estimated plasma volume (ePV) (<b>A</b>), interstitial fluid (IF) (<b>B</b>), and ΔIF-to-ΔePV ratio (ΔIF/ΔePV) (<b>C</b>) between the SGLT2i and SGLT2i + diuretic groups after 6 months. SGLT2i, SGLT2 inhibitor dapagliflozin; SGLT2i + diuretic, dapagliflozin, and diuretic (loop or thiazide diuretic).</p>
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<p>Comparing percentage changes in extracellular water (ECW) (<b>A</b>), intracellular water (ICW) (<b>B</b>), total body water (TBW) (<b>C</b>), and ECW-to-TBW ratio (ECW/TBW) (<b>D</b>) between the SGLT2i and SGLT2i + diuretic groups after 6 months. SGLT2i, SGLT2 inhibitor dapagliflozin; SGLT2i + diuretic, dapagliflozin, and diuretic (loop or thiazide diuretic).</p>
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<p>Comparing percentage changes in brain natriuretic peptide (BNP) (<b>A</b>), serum renin (<b>B</b>), and serum aldosterone (<b>C</b>) between the SGLT2i and SGLT2i + diuretic groups after 6 months. Comparing plasma adrenaline between the SGLT2i group and the SGLT2i + diuretic groups at 6 months (<b>D</b>) SGLT2i, SGLT2 inhibitor dapagliflozin; SGLT2i + diuretic, dapagliflozin, and diuretic (loop or thiazide diuretic).</p>
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<p>(<b>A</b>) Change in body fluid volume in the SGLT2 inhibitor-treated patients with and without diuretics. After 6 months of treatment, intracellular water (ICW), interstitial fluid (IF), extracellular water (ECW), and total body water (TBW) were reduced to a greater degree in the SGLT2i + diuretic group than that in the SGLT2i group, although the reduction in circulating plasma volume (PV) was not different between the groups. (<b>B</b>) Proposal treatment option based on pretreatment fluid status. The avoidance of excessive PV reduction or activating the renin–angiotensin–aldosterone system (RAAS) and sympathetic nervous system (SNS) both in SGLT2i and SGLT2i + diuretic groups may contribute to long-term cardiorenal protection.</p>
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12 pages, 8477 KiB  
Communication
Development of a Colorimetric Loop-Mediated Isothermal Amplification Assay for the Detection of Trypanosoma cruzi in Low-Resource Settings
by Taylor J. Moehling, Myla D. Worthington, Pui-Yan G. Wong, Season S. Wong and Robert J. Meagher
Diagnostics 2024, 14(11), 1193; https://doi.org/10.3390/diagnostics14111193 - 5 Jun 2024
Viewed by 1528
Abstract
Chagas disease is an inflammatory parasitic infection caused by Trypanosoma cruzi (T. cruzi). Early diagnosis is crucial in guiding treatment and slowing disease progression; however, current diagnostic methods have insufficient detection limits and often require skilled technicians. Molecular tests, especially isothermal [...] Read more.
Chagas disease is an inflammatory parasitic infection caused by Trypanosoma cruzi (T. cruzi). Early diagnosis is crucial in guiding treatment and slowing disease progression; however, current diagnostic methods have insufficient detection limits and often require skilled technicians. Molecular tests, especially isothermal nucleic acid assays, are advantageous due to their excellent sensitivity, specificity, speed, and simplicity. Here, we optimized a colorimetric loop-mediated isothermal amplification (LAMP) assay for T. cruzi. We can detect as few as 2 genomic copies/reaction using three different T. cruzi strains. We examined selectivity using other parasitic protozoans and successfully detected T. cruzi DNA extracted from parasites in human whole blood down to 1.2 parasite equivalents/reaction. We also performed a blinded study using canine blood samples and established a 100% sensitivity, specificity, and accuracy for the colorimetric LAMP assay. Finally, we used a heated 3D printer bed and an insulated thermos cup to demonstrate that the LAMP incubation step could be performed with accessible, low-cost materials. Altogether, we have developed a high-performing assay for T. cruzi with a simple colorimetric output that would be ideal for rapid, low-cost screening at the point of use. Full article
(This article belongs to the Section Point-of-Care Diagnostics and Devices)
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<p><span class="html-italic">T. cruzi</span> LAMP assay LOD and selectivity. Representative end-point colorimetric results (top), graphic demonstrating relationship between color (right) and hue value (y-axis), and quantified hue values (center) are shown for each data set. On a color wheel, a yellow hue (positive) is assigned 45–90° while pink (negative) is 315–360°. (<b>A</b>) Hue values for strain Dm28c are statistically significant down to 2 copies/reaction when compared to NTC (0). (<b>B</b>) Measured hue values for strain G show a statistically significant difference down to 2 copies/reaction when compared to NTC. (<b>C</b>) Hue values for strain CL are statistically significant down to 2 copies/reaction when compared to NTC. (<b>D</b>) Measured hue values for <span class="html-italic">C. parvum</span>, <span class="html-italic">L. infantum</span>, <span class="html-italic">P. falciparum</span>, and NTC show a statistically significant difference when compared to <span class="html-italic">T. cruzi</span>. <span class="html-italic">n</span> = 8 each circle represents a replicate; **** indicates <span class="html-italic">p</span> ≤ 0.0001.</p>
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<p>Detection of <span class="html-italic">T. cruzi</span> DNA extracted from parasites in human whole blood. Highlighted for each data set are quantified hue values (center), graphic demonstrating relationship between color (right) and hue value (y-axis), and end-point colorimetric results (bottom). Each column in the 96-well plate is aligned with the corresponding concentration on the x-axis of the graph above. (<b>A</b>) DNA extraction was performed using the modified NucliSENS easyMAG Kit. There is a statistically significant difference in the hue value of LAMP products from as few as 1.2 parasite equivalents/reaction as compared to the negative control (0). (<b>B</b>) DNA extraction was conducted with the MagMAX Kit. There is a statistically significant difference in hue value down to 1.2 parasite equivalents/reaction when compared to NTC. <span class="html-italic">n</span> = 8 each circle represents a replicate; *** indicates <span class="html-italic">p</span> ≤ 0.001; **** indicates <span class="html-italic">p</span> ≤ 0.0001.</p>
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<p>LAMP heating using a low-cost 3D printer (Monoprice IIIP). (<b>A</b>) 3D printer setup for LAMP incubation. Samples were either placed directly on the heater or in an aluminum block that was on the heated bed. (<b>B</b>) Photos were taken at different time intervals to show the color change over time in positive samples.</p>
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<p>Incubation of LAMP reactions using an inexpensive thermos cup. (<b>A</b>) The thermos filled with 65 °C water. (<b>B</b>) Sample tubes were loaded into the sponge so they were in contact with the hot water and afterwards, the thermos lid was sealed to prevent evaporation. (<b>C</b>) End-point image of the reactions. Samples with no template or low concentrations of target DNA remained pink while the positive control (PC) and samples with higher amounts of template turned yellow.</p>
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8 pages, 1123 KiB  
Article
Value of Ultrasound Super-Resolution Imaging for the Assessment of Renal Microcirculation in Patients with Acute Kidney Injury: A Preliminary Study
by Xin Huang, Yao Zhang, Qing Zhou and Qing Deng
Diagnostics 2024, 14(11), 1192; https://doi.org/10.3390/diagnostics14111192 - 5 Jun 2024
Cited by 1 | Viewed by 1164
Abstract
The present study aimed to explore the clinical applicability of ultrasound super-resolution imaging (US SRI) for assessing renal microcirculation in patients with acute kidney injury (AKI). A total of 62 patients with sepsis were enrolled in the present study—38 with AKI and 24 [...] Read more.
The present study aimed to explore the clinical applicability of ultrasound super-resolution imaging (US SRI) for assessing renal microcirculation in patients with acute kidney injury (AKI). A total of 62 patients with sepsis were enrolled in the present study—38 with AKI and 24 control patients—from whom renal ultrasounds and clinical data were obtained. SonoVue contrast (1.5 mL) was administered through the elbow vein and contrast-enhanced ultrasound (CEUS) images were obtained on a Mindray Resona A20 ultrasound unit for 2 min. The renal perfusion time-intensity curve (TIC) was analyzed and, after 15 min, additional images were obtained to create a microscopic blood flow map. Microvascular density (MVD) was calculated and its correlation with serum creatinine (Scr) levels was analyzed. There were significant differences in heart rate, Scr, blood urea nitrogen, urine volume at 24 h, and glomerular filtration rate between the two groups (p < 0.01), whereas other characteristics, such as renal morphology, did not differ significantly between the AKI group and control group (p > 0.05). The time to peak and mean transit times of the renal cortex in the AKI group were prolonged compared to those in the control group (p < 0.01), while the peak intensity and area under the TIC were lower than those in the control group (p < 0.05). The MVD of the renal cortex in the AKI group was lower than that in the control group (18.46 ± 5.90% vs. 44.93 ± 11.65%; p < 0.01) and the MVD in the AKI group showed a negative correlation with Scr (R = −0.84; p < 0.01). Based on the aforementioned results, US SRI can effectively assess renal microcirculation in patients with AKI and is a noninvasive technique for the diagnosis of AKI and quantitative evaluation of renal microcirculation. Full article
(This article belongs to the Special Issue Abdominal Diseases: Diagnosis, Treatment and Management)
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<p>Images of patients with AKI and without AKI. (<b>A</b>,<b>B</b>): Two-dimensional-US image and CDFI of the kidneys. (<b>C</b>): CEUS of the kidneys reaching PI. (<b>D</b>): US SRI of the whole kidneys. (<b>E</b>): US SRI of the renal cortex with white squares.</p>
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<p>MVD of the renal cortex in two groups. (<b>A</b>): Comparison of the MVD of two groups. (<b>B</b>): Relationship diagram of MVD and Scr.</p>
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15 pages, 1699 KiB  
Article
Enhancing Medical Image Classification with an Advanced Feature Selection Algorithm: A Novel Approach to Improving the Cuckoo Search Algorithm by Incorporating Caputo Fractional Order
by Abduljlil Abduljlil Ali Abduljlil Habeb, Mundher Mohammed Taresh, Jintang Li, Zhan Gao and Ningbo Zhu
Diagnostics 2024, 14(11), 1191; https://doi.org/10.3390/diagnostics14111191 - 5 Jun 2024
Viewed by 911
Abstract
Glaucoma is a chronic eye condition that seriously impairs vision and requires early diagnosis and treatment. Automated detection techniques are essential for obtaining a timely diagnosis. In this paper, we propose a novel method for feature selection that integrates the cuckoo search algorithm [...] Read more.
Glaucoma is a chronic eye condition that seriously impairs vision and requires early diagnosis and treatment. Automated detection techniques are essential for obtaining a timely diagnosis. In this paper, we propose a novel method for feature selection that integrates the cuckoo search algorithm with Caputo fractional order (CFO-CS) to enhance the performance of glaucoma classification. However, when using the infinite series, the Caputo definition has memory length truncation issues. Therefore, we suggest a fixed memory step and an adjustable term count for optimization. We conducted experiments integrating various feature extraction techniques, including histograms of oriented gradients (HOGs), local binary patterns (LBPs), and deep features from MobileNet and VGG19, to create a unified vector. We evaluate the informative features selected from the proposed method using the k-nearest neighbor. Furthermore, we use data augmentation to enhance the diversity and quantity of the training set. The proposed method enhances convergence speed and the attainment of optimal solutions during training. The results demonstrate superior performance on the test set, achieving 92.62% accuracy, 94.70% precision, 93.52% F1-Score, 92.98% specificity, 92.36% sensitivity, and 85.00% Matthew’s correlation coefficient. The results confirm the efficiency of the proposed method, rendering it a generalizable and applicable technique in ophthalmology. Full article
(This article belongs to the Special Issue Classification of Diseases Using Machine Learning Algorithms)
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<p>The outline of the proposed model.</p>
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<p>Sample images from the datasets: (<b>a</b>,<b>b</b>) glaucoma, (<b>c</b>,<b>d</b>) healthy images.</p>
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<p>The average training (<b>a</b>) accuracy and (<b>b</b>) loss of different <math display="inline"><semantics> <mi>α</mi> </semantics></math> for each <span class="html-italic">M</span>.</p>
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<p>The convergence profile of using CFO-CS and CS for feature selection.</p>
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<p>The confusion matrix of k-NN performance using CS for FS. (<b>a</b>) CS and (<b>b</b>) CFO-CS for FS.</p>
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<p>The convergence profile of using CFO-CS and WOA for feature selection.</p>
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10 pages, 1859 KiB  
Article
Characterization and Antimicrobial Susceptibility Patterns of Enterococcus Species Isolated from Nosocomial Infections in a Saudi Tertiary Care Hospital over a Ten-Year Period (2012–2021)
by Ali Al Bshabshe, Abdullah Algarni, Yahya Shabi, Abdulrahman Alwahhabi, Mohammed Asiri, Ahmed Alasmari, Adil Alshehry, Wesam F. Mousa and Nashwa Noreldin
Diagnostics 2024, 14(11), 1190; https://doi.org/10.3390/diagnostics14111190 - 5 Jun 2024
Cited by 1 | Viewed by 876
Abstract
Introduction: The Enterococcus genus is a common cause of nosocomial infections, with vancomycin-resistant enterococci (VRE) posing a significant treatment challenge. Method: This retrospective study, spanning ten years (2012 to 2021), analyzes antimicrobial susceptibility patterns of Enterococcus species from clinical samples in a Saudi [...] Read more.
Introduction: The Enterococcus genus is a common cause of nosocomial infections, with vancomycin-resistant enterococci (VRE) posing a significant treatment challenge. Method: This retrospective study, spanning ten years (2012 to 2021), analyzes antimicrobial susceptibility patterns of Enterococcus species from clinical samples in a Saudi Arabian tertiary care hospital. Result: A total of 1034 Enterococcus isolates were collected, 729 from general wards and 305 from intensive care unit (ICU) patients. VRE accounted for 15.9% of isolates. E. faecalis was the most common species (54.3% of isolates and 2.7% of VRE), followed by E. faecium (33.6% of isolates and 41.2% of VRE). E. faecium exhibited the highest resistance to ciprofloxacin (84.1%), ampicillin (81.6%), and rifampicin (80%), with daptomycin (0.6%) and linezolid (3.1%) showing the lowest resistance. In E. faecalis, ciprofloxacin resistance was highest (59.7%), followed by rifampicin (20.1%) and ampicillin (11.8%). Daptomycin (0%), linezolid (1.5%), and vancomycin (2.7%) had the lowest resistance. VRE cases had higher mortality rates compared to vancomycin-sensitive enterococci (VSE). Conclusion: Eight different strains of Enterocci were identified. E. faecalis was the most commonly identified strain, while E. faecium had the highest percentage of VRE. VRE cases had a significantly higher mortality rate than VSE cases. Full article
(This article belongs to the Section Diagnostic Microbiology and Infectious Disease)
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<p>Vancomycin resistance across the all the study’s population. The overall vancomycin resistance was 15.9% while ICU patients had a 46.4% resistance burden and 53.6% for general ward patients.</p>
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<p>Distribution of VRE isolates among all clinical specimens. Ascitic fluid, blood, and CSF represent the 33.3%, 26.6%, and 18.2% VRE populations followed by bedsore swabs, wounds, and urine samples with 14.3%, 14.2%, and 13.2% VRE populations, respectively.</p>
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<p>Mortality status across the study population. Total study mortality was 25.6%, while ICU had 32%, and the general ward had a 13.5% mortality rate of VRE.</p>
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<p>Trends of <span class="html-italic">E. faecalis</span> and <span class="html-italic">E. faecium</span> incidence across the years of study.</p>
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<p>Trends of ampicillin and vancomycin resistance in the whole study population, ICU, and general ward as well as trends in <span class="html-italic">E. faecalis</span> and <span class="html-italic">E. faecium</span> over the study years.</p>
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17 pages, 972 KiB  
Review
A Comprehensive Review on Alcohol Abuse Disorder Fatality, from Alcohol Binges to Alcoholic Cardiomyopathy
by Antonina Argo, Walter Pitingaro, Maria Puntarello, Roberto Buscemi, Ginevra Malta, Tommaso D’Anna, Giuseppe Davide Albano and Stefania Zerbo
Diagnostics 2024, 14(11), 1189; https://doi.org/10.3390/diagnostics14111189 - 5 Jun 2024
Cited by 1 | Viewed by 1496
Abstract
Frequent and excessive consumption of alcohol, be it episodic or sustained misuse, ranks among the top causes of mortality globally. This comprehensive analysis seeks to elucidate how alcohol misuse precipitates death, with a particular focus on associated cardiac anomalies. Notably, the phenomenon of [...] Read more.
Frequent and excessive consumption of alcohol, be it episodic or sustained misuse, ranks among the top causes of mortality globally. This comprehensive analysis seeks to elucidate how alcohol misuse precipitates death, with a particular focus on associated cardiac anomalies. Notably, the phenomenon of “Holiday Heart Syndrome”, linked to binge drinking, is recognized for inducing potentially fatal cardiac arrhythmias. Moreover, persistent alcohol consumption is implicated in the development of alcoholic cardiomyopathy, a condition that underlies heart failure and arrhythmic disturbances of the heart. Additionally, individuals undergoing withdrawal from alcohol frequently exhibit disruptions in normal heart rhythm, posing a risk of death. This review further delves into additional alcohol-related mortality factors, including the heightened likelihood of hypertension, cerebrovascular accidents (strokes), and the connection between excessive alcohol use and Takotsubo syndrome. Full article
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<p>PRISMA flow diagram of literature review and study identification, screening, eligibility, inclusion and exclusion.</p>
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<p>Significant findings on alcohol consumption and sudden death. Pathophysiology of alcohol intake leading to sudden death.</p>
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13 pages, 806 KiB  
Article
Post-Treatment Occurrence of Serum Cryoglobulinemia in Chronic Hepatitis C Patients
by Gantogtokh Dashjamts, Amin-Erdene Ganzorig, Yumchinsuren Tsedendorj, Ganchimeg Dondov, Otgongerel Nergui, Tegshjargal Badamjav, Chung-Feng Huang, Po-Cheng Liang, Tulgaa Lonjid, Batbold Batsaikhan and Chia-Yen Dai
Diagnostics 2024, 14(11), 1188; https://doi.org/10.3390/diagnostics14111188 - 5 Jun 2024
Viewed by 1620
Abstract
Background: Persistent cryoglobulinemia after the completion of antiviral treatment is an important consideration of clinical management in chronic hepatitis C patients. We aimed to investigate the occurrence of serum cryoglobulinemia in chronic hepatitis C patients without cryoglobulinemia at the initiation of antiviral treatment. [...] Read more.
Background: Persistent cryoglobulinemia after the completion of antiviral treatment is an important consideration of clinical management in chronic hepatitis C patients. We aimed to investigate the occurrence of serum cryoglobulinemia in chronic hepatitis C patients without cryoglobulinemia at the initiation of antiviral treatment. Methods: In total, 776 patients without cryoglobulinemia were assessed for serum cryoglobulinemia after the completion of anti-HCV treatment. Serum cryoglobulinemia precipitation was assessed upon both the initiation and the completion of the treatment and analyzed for the clinical laboratory factors associated with chronic hepatitis C. Results: One hundred eighteen (118) patients were checked for serum cryo-precipitation after the completion of the treatment, and eight patients (4.6%) were positive for serum cryoglobulinemia. The patients who tested positive for cryoglobulinemia included a higher proportion of liver cirrhosis patients (4/50%, p = 0.033) and other organ cancer patients (5/62.5%, p = 0.006) than patients who showed no signs of cryoglobulinemia after treatment. In a multivariate analysis, liver cirrhosis (odds ratio [OR]—17.86, 95% confidence interval [95% CI]—1.79–177.35, p = 0.014) and other organ cancer (OR–25.17 95% CI—2.59–244.23, p = 0.005) were independently and significantly associated with positive cryoglobulinemia 3 months after antiviral treatment. Conclusions: Three months after the antiviral DAA therapy had concluded, eight patients tested positive for cryoglobulinemia, representing a 6.7% prevalence. Liver cirrhosis and other organ cancer were independently and significantly associated with positive cryoglobulinemia after antiviral treatment. Further investigation into the causes of positive cryoglobulinemia after DAA antiviral therapy is warranted. Full article
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<p>Study population.</p>
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<p>Detected cryoprecipitation after refrigeration (4 °C) for 7 days.</p>
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12 pages, 8897 KiB  
Case Report
Endovascular Stenting for Idiopathic Stenosis of the Superior Mesenteric Vein: A Case Report
by Mugur Cristian Grasu, Radu Lucian Dumitru, Gina-Ionela Rusu-Munteanu, Mariana Mihaila, Mircea Manuc and Ioana Gabriela Lupescu
Diagnostics 2024, 14(11), 1187; https://doi.org/10.3390/diagnostics14111187 - 5 Jun 2024
Viewed by 903
Abstract
Idiopathic superior mesenteric vein (SMV) stenosis, where no clear causative factor is identifiable, remains a clinical rarity. We present a detailed case report of a patient with idiopathic stenosis of the SMV who underwent successful endovascular stenting. This report outlines the patient’s clinical [...] Read more.
Idiopathic superior mesenteric vein (SMV) stenosis, where no clear causative factor is identifiable, remains a clinical rarity. We present a detailed case report of a patient with idiopathic stenosis of the SMV who underwent successful endovascular stenting. This report outlines the patient’s clinical presentation, diagnostic imaging findings, procedural approach by the interventional radiology team, and subsequent management. Endovascular stenting is a viable therapeutic option for patients with idiopathic SMV stenosis. This case demonstrates that with appropriate interventional and post-procedural management, long-term stent patency and thrombosis prevention can be achieved. The success of this case encourages further investigation into endovascular treatments for venous stenoses. Full article
(This article belongs to the Special Issue Advances in Diagnostic and Interventional Radiology)
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<p>Upper endoscopy—gastric ectatic vascular lesions.</p>
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<p>AngioCT (VRT reconstructions)—The distal segment of the superior mesenteric vein exhibits complete stenosis (arrowhead), with mesenteric venous drainage occurring via a network of collateral vessels (arrow) around the pancreatico-duodenal and gastric antral region. Inferior mesenteric vein (IMV), middle colic vein (MCV), left colic vein (LCV), ileo-colic vein (ILV), PV (portal vein), SV (splenic vein).</p>
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<p>Venography—Portography demonstrating normal hemodynamic flow within the portal vein. (<b>A</b>) Post-stenotic injection reveals drainage of the jejunal veins through a collateral network involving the pancreatico-duodenal and antral gastric veins, with no opacification observed in the distal superior mesenteric vein or the portal vein (<b>B</b>).</p>
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<p>Balloon angioplasty performed on the stenotic segment of SMV using an 8 mm balloon catheter to achieve vessel dilation (<b>A</b>). Post-balloon dilation venography reveals a significant reduction in flow through collateral veins, accompanied by the restoration of flow in the distal SMV and the portal vein, indicating successful re-establishment of normal venous circulation in the treated areas (<b>B</b>).</p>
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<p>Normal flow in portal vein after stenting stenosis of distal superior mesenteric vein.</p>
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<p>CECT coronal MIP after 1 week—permeable stent in SMV and portal vein.</p>
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<p>CECT—coronal MIP after 1 year—partially thrombosed stent in SMV.</p>
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<p>Venography before (<b>A</b>) and after (<b>B</b>) the balloon dilatation of the previous stent and placement of a second stent in SMV.</p>
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<p>CECT—coronal MIP—5-year patency of the stents placed in the SMV.</p>
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13 pages, 434 KiB  
Review
The Challenge of Neuropsychiatric Systemic Lupus Erythematosus: From Symptoms to Therapeutic Strategies
by Veena Patel
Diagnostics 2024, 14(11), 1186; https://doi.org/10.3390/diagnostics14111186 - 5 Jun 2024
Cited by 2 | Viewed by 3403
Abstract
Systemic lupus erythematosus (SLE) is a chronic autoimmune condition that can seriously impair multiple organs including the nervous system, causing neuropsychiatric SLE (NPSLE), which encompasses a broad range of symptoms. Pathogenesis is not completely understood but is thought to involve inflammatory and vascular [...] Read more.
Systemic lupus erythematosus (SLE) is a chronic autoimmune condition that can seriously impair multiple organs including the nervous system, causing neuropsychiatric SLE (NPSLE), which encompasses a broad range of symptoms. Pathogenesis is not completely understood but is thought to involve inflammatory and vascular pathways. This comprehensive review discusses the complex nature and heterogeneity of NPSLE and the challenges in diagnosis and treatment that result from it. Diagnosis often requires a multidisciplinary approach with multiple assessments, including laboratory testing, imaging, and neuropsychological evaluations. Current treatments focus on managing symptoms through immunosuppressive and anti-thrombotic therapies tailored to the inflammatory or vascular nature of the specific NPSLE manifestations. This paper emphasizes the necessity for interdisciplinary approaches and further research to enhance diagnostic accuracy and treatment effectiveness. It also highlights the importance of understanding the underlying mechanisms of NPSLE to develop more targeted therapies, citing the need for high-quality studies and novel treatment agents. Full article
(This article belongs to the Special Issue Rheumatic Diseases: Diagnosis and Management)
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<p>Diagnostic and therapeutic approach to suspected NPSLE. NP = neuropsychiatric; APLAs = antiphospholipid antibodies; cMRI = conventional magnetic resonance imaging; LP = lumbar puncture; CSF = cerebrospinal fluid; GC = glucocorticoid; MMF = mycophenolate mofetil; AZA = azathioprine; MP = methylprednisolone; CYC = cyclophosphamide; IS = immunosuppression; AC = anticoagulation; IV = intravenous; PO = per os.</p>
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17 pages, 1845 KiB  
Article
Live-Birth Incidence of Isolated D-Transposition of Great Arteries—The Shift in Trends Due to Early Diagnosis
by Andreea Florentina Stancioi-Cismaru, Marina Dinu, Andreea Carp-Veliscu, Razvan Grigoras Capitanescu, Razvan Cosmin Pana, Ovidiu Costinel Sirbu, Florentina Tanase, Florentina Gratiela Dita, Maria Adelina Popa, Mihai Robert Robu, Mihaela Gheonea and Stefania Tudorache
Diagnostics 2024, 14(11), 1185; https://doi.org/10.3390/diagnostics14111185 - 5 Jun 2024
Viewed by 922
Abstract
This is a single tertiary population-based study conducted at a center in southwest Romania. We retrospectively compared data obtained in two periods: January 2008–December 2013 and January 2018–December 2023. The global incidence of the transposition of great arteries in terminated cases, in addition [...] Read more.
This is a single tertiary population-based study conducted at a center in southwest Romania. We retrospectively compared data obtained in two periods: January 2008–December 2013 and January 2018–December 2023. The global incidence of the transposition of great arteries in terminated cases, in addition to those resulting in live-born pregnancies, remained almost constant. The live-birth incidence decreased. The median gestational age at diagnosis decreased from 29.3 gestational weeks (mean 25.4) to 13.4 weeks (mean 17.2). The second trimester and the overall detection rate in the prenatal period did not significantly change, but the increase was statistically significant in the first trimester. The proportion of terminated pregnancies in fetuses diagnosed with the transposition of great arteries significantly increased (14.28% to 75%, p = 0.019). Full article
(This article belongs to the Special Issue Fetal Medicine: From Basic Science to Prenatal Diagnosis and Therapy)
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<p>Details at the FT cardiac sweep in a normal (<b>a</b>,<b>b</b>) and in a TGA case (<b>c</b>).</p>
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<p>TGA cases: right ventricle outflow tract (RVOT) at level of the three-vessel and trachea (3VT) view (<b>a</b>) and parallel arterial trunks (<b>b</b>).</p>
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<p>Flowchart presenting the selected study population and the number of cases in both cohorts. Abbreviations: Dx = diagnosis; FT = first trimester, ST = second trimester, TT = third trimester; TOP = termination of pregnancy.</p>
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<p>Graphical representation of gestational age at diagnosis (blue dots—the historical cohort, pink dots—the recent cohort; trends are represented by dotted lines).</p>
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<p>Postabortum conventional autopsy details: (<b>a</b>) Specimen after first-trimester medical TOP; CRL (crown–rump length) 68 mm. In upper window, fetal heart is shown in transverse section on operator’s fingers; comparative size can be seen. (<b>b</b>) Specimen after second-trimester medical TOP; an accurate diagnosis of TGA is reachable.</p>
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9 pages, 400 KiB  
Article
Transition from Transrectal to Transperineal MRI-Fusion Prostate Biopsy Does Not Comprise Detection Rates of Clinically Significant Prostate Cancer at a Tertiary Care Center
by Benedikt Hoeh, Mike Wenzel, Clara Humke, Cristina Cano Garcia, Carolin Siech, Melissa Schneider, Carsten Lange, Miriam Traumann, Jens Köllermann, Felix Preisser, Felix K. H. Chun and Philipp Mandel
Diagnostics 2024, 14(11), 1184; https://doi.org/10.3390/diagnostics14111184 - 5 Jun 2024
Viewed by 1068
Abstract
Background: A remarkable paradigm shift has emerged regarding the preferred prostate biopsy approach, favoring the transperineal (TP) over the transrectal (TR) approach due to the reduced risk of severe urinary tract infections. However, its impact on the detection of clinically significant prostate cancer [...] Read more.
Background: A remarkable paradigm shift has emerged regarding the preferred prostate biopsy approach, favoring the transperineal (TP) over the transrectal (TR) approach due to the reduced risk of severe urinary tract infections. However, its impact on the detection of clinically significant prostate cancer (csPCa) remains unclear. Materials and methods: We relied on a prospectively maintained tertiary care database to identify patients who underwent either TP or TR prostate biopsy between 01/2014 and 12/2023. Of those, only patients with suspicious magnetic resonance imaging (MRI) PIRADS lesions (Likert-scale: 3,4,5) received MRI-targeted and systematic biopsies. Detection rates of csPCa (International Society of Urological Pathology [ISUP] ≥ 2) were compared between biopsy approach (TP vs. TR) according to index lesion. Subsequently, uni- and multivariable logistic regression models were applied to investigate the predictive status of the biopsy approach within each subcohort. Results: Of 2063 patients, 1118 (54%) underwent combined MRI-guided and systematic prostate biopsy and were included in the final cohort. Of those, 127 (11%) and 991 (89%) underwent TP vs. TR. CsPCa rates, regardless of differences in patients’ demographics and distribution of index PIRDAS lesions, did not differ statistically significantly and were 51 vs. 52%, respectively (p = 0.8). CsPCa detection rates for PIRDAS-3, PIRADS-4 and PIRADS-5 did not differ and were 24 vs. 23%, 48 vs. 51% and 72 vs. 76% for PIRADS-3, PIRADS-4 and PIRADS-5 subgroups for TP vs. TR, respectively (all p ≥ 0.9) Conclusions: The current results support the available data indicating that TP biopsy approach is comparable to transrectal biopsy approach regarding csPCa detection rates. Full article
(This article belongs to the Special Issue Challenges in Urology: From the Diagnosis to the Management)
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<p>Flowchart depicting in- and exclusion criteria of the study population. Abbreviations: MRI = magnetic resonance imaging; PCa = prostate cancer; AS = active surveillance; PIRADS: Prostate Imaging Reporting and Data System.</p>
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15 pages, 3537 KiB  
Article
Evaluation of the Performance of an Artificial Intelligence (AI) Algorithm in Detecting Thoracic Pathologies on Chest Radiographs
by Hubert Bettinger, Gregory Lenczner, Jean Guigui, Luc Rotenberg, Elie Zerbib, Alexandre Attia, Julien Vidal and Pauline Beaumel
Diagnostics 2024, 14(11), 1183; https://doi.org/10.3390/diagnostics14111183 - 4 Jun 2024
Viewed by 1616
Abstract
The purpose of the study was to assess the performance of readers in diagnosing thoracic anomalies on standard chest radiographs (CXRs) with and without a deep-learning-based AI tool (Rayvolve) and to evaluate the standalone performance of Rayvolve in detecting thoracic pathologies on CXRs. [...] Read more.
The purpose of the study was to assess the performance of readers in diagnosing thoracic anomalies on standard chest radiographs (CXRs) with and without a deep-learning-based AI tool (Rayvolve) and to evaluate the standalone performance of Rayvolve in detecting thoracic pathologies on CXRs. This retrospective multicentric study was conducted in two phases. In phase 1, nine readers independently reviewed 900 CXRs from imaging group A and identified thoracic abnormalities with and without AI assistance. A consensus from three radiologists served as the ground truth. In phase 2, the standalone performance of Rayvolve was evaluated on 1500 CXRs from imaging group B. The average values of AUC across the readers significantly increased by 15.94%, with AI-assisted reading compared to unaided reading (0.88 ± 0.01 vs. 0.759 ± 0.07, p < 0.001). The time taken to read the CXRs decreased significantly, by 35.81% with AI assistance. The average values of sensitivity and specificity across the readers increased significantly by 11.44% and 2.95% with AI-assisted reading compared to unaided reading (0.857 ± 0.02 vs. 0.769 ± 0.02 and 0.974 ± 0.01 vs. 0.946 ± 0.01, p < 0.001). From the standalone perspective, the AI model achieved an average sensitivity, specificity, PPV, and NPV of 0.964, 0.844, 0.757, and 0.9798. The speed and performance of the readers improved significantly with AI assistance. Full article
(This article belongs to the Special Issue Applications of Artificial Intelligence in Thoracic Imaging)
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<p>Flowchart of the study procedure for clinical validation and standalone performance evaluation of Rayvolve.</p>
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<p>Dataset used to train Rayvolve algorithm.</p>
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<p>Detection performance of the readers with and without Rayvolve (<b>A</b>) AUC, sensitivity, and specificity, (<b>B</b>) represent the mean time of analysis per X-ray.</p>
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<p>Standalone performance of Rayvolve examples. Green and red boxes represent ground truths and the AI model predictions. (<b>A</b>) Rayvolve correctly identified consolidation (TP). (<b>B</b>) Rayvolve correctly identified pleural effusion (TP). (<b>C</b>) The AI model correctly identified pneumothorax on the right lung. However, it incorrectly detected consolidation on the right lung (TP for pneumothorax and FP for consolidation). (<b>D</b>) The AI model correctly identified pleural effusion on the left lung. However, it incorrectly detected consolidation on the left lung (TP for pleural effusion and FP for consolidation). (<b>E</b>) Rayvolve correctly identified pneumothorax. However, it missed pleural effusion on the right lung (TP for pneumothorax and FN for pleural effusion). (<b>F</b>) The AI model correctly identified a normal scan (TN).</p>
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<p>Receiver operating characteristic (ROC) curves of Rayvolve standalone performance in detecting the thoracic anomalies.</p>
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26 pages, 7625 KiB  
Article
Advances in Inflammatory Bowel Disease Diagnostics: Machine Learning and Genomic Profiling Reveal Key Biomarkers for Early Detection
by Asif Hassan Syed, Hamza Ali S. Abujabal, Shakeel Ahmad, Sharaf J. Malebary and Nashwan Alromema
Diagnostics 2024, 14(11), 1182; https://doi.org/10.3390/diagnostics14111182 - 4 Jun 2024
Viewed by 1332
Abstract
This study, utilizing high-throughput technologies and Machine Learning (ML), has identified gene biomarkers and molecular signatures in Inflammatory Bowel Disease (IBD). We could identify significant upregulated or downregulated genes in IBD patients by comparing gene expression levels in colonic specimens from 172 IBD [...] Read more.
This study, utilizing high-throughput technologies and Machine Learning (ML), has identified gene biomarkers and molecular signatures in Inflammatory Bowel Disease (IBD). We could identify significant upregulated or downregulated genes in IBD patients by comparing gene expression levels in colonic specimens from 172 IBD patients and 22 healthy individuals using the GSE75214 microarray dataset. Our ML techniques and feature selection methods revealed six Differentially Expressed Gene (DEG) biomarkers (VWF, IL1RL1, DENND2B, MMP14, NAAA, and PANK1) with strong diagnostic potential for IBD. The Random Forest (RF) model demonstrated exceptional performance, with accuracy, F1-score, and AUC values exceeding 0.98. Our findings were rigorously validated with independent datasets (GSE36807 and GSE10616), further bolstering their credibility and showing favorable performance metrics (accuracy: 0.841, F1-score: 0.734, AUC: 0.887). Our functional annotation and pathway enrichment analysis provided insights into crucial pathways associated with these dysregulated genes. DENND2B and PANK1 were identified as novel IBD biomarkers, advancing our understanding of the disease. The validation in independent cohorts enhances the reliability of these findings and underscores their potential for early detection and personalized treatment of IBD. Further exploration of these genes is necessary to fully comprehend their roles in IBD pathogenesis and develop improved diagnostic tools and therapies. This study significantly contributes to IBD research with valuable insights, potentially greatly enhancing patient care. Full article
(This article belongs to the Section Machine Learning and Artificial Intelligence in Diagnostics)
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<p>(<b>A</b>) Illustrates the intended framework for selecting and identifying potential DEGs from the GEO75214 gene expression dataset. (<b>B</b>) Depicts the framework s to screen the best supervised classification model that effectively differentiates IBD from healthy control samples. (<b>C</b>) Represents the RF model built using the six DEG biomarkers in independent cohorts.</p>
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<p>Differential Gene Expression Patterns between IBD and Normal samples of the GSE75214 cohort. (<b>a</b>) The Figure displays the heatmap results of the upregulated genes between the IBD and Normal subjects. (<b>b</b>) The Figure displays the heatmap results of the downregulated genes between the IBD and Normal subjects. The color scale ranges from dark blue, indicating low expression, to dark red, indicating high expression. The expression levels provide insights into the contrasting gene expression patterns associated with IBD and Normal subjects.</p>
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<p>Analysis of DEGs between IBD and Healthy Controls from the GSE75214 cohort. (<b>a</b>) The volcano plot illustrates the DEGs observed between IBD and normal individuals in the GSE75214 cohort. The y-axis represents the negative logarithm (base 10) of the <span class="html-italic">p</span>-value, while the x-axis represents the log2 fold change. The significant DEGs, meeting the criteria of a <span class="html-italic">p</span>-value less than 0.001 and a fold change exceeding the threshold of 1.06712, are highlighted on the plot. (<b>b</b>) Venn diagram illustrating the overlap of DEGs in the GSE75214 cohorts. The diagram shows the genes that are common DEGs (upregulated and downregulated) between the two groups (IBD and Normal) of the GSE75214 cohort.</p>
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<p>KDE subplots illustrate the expression distribution of six genes (<span class="html-italic">VMF</span>, <span class="html-italic">IL1RL1</span>, <span class="html-italic">DENND2B</span>, <span class="html-italic">MMP14</span>, <span class="html-italic">NAAA</span>, and <span class="html-italic">PANK1</span>) across two groups (IBD patients and Normal controls).</p>
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<p>Comparison of Accuracy, F1-Score, and AUC Scores between ‘Six Gene Biomarkers’ and ‘Baseline (33,253 Genes)’ based ML models with SMOTE and without SMOTE. Error bars represent the standard deviation values for each performance evaluator.</p>
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<p>Illustrates a visualization of the optimized RF-based classification model’s performance using a confusion matrix.</p>
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<p>Performance of six biomarker-based optimized RF models on different IBD cohorts (GDE30687 and GSE10616).</p>
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<p>Presents a comparative evaluation of accuracy and AUC values between our and related models [<a href="#B21-diagnostics-14-01182" class="html-bibr">21</a>,<a href="#B22-diagnostics-14-01182" class="html-bibr">22</a>,<a href="#B24-diagnostics-14-01182" class="html-bibr">24</a>,<a href="#B28-diagnostics-14-01182" class="html-bibr">28</a>,<a href="#B29-diagnostics-14-01182" class="html-bibr">29</a>,<a href="#B30-diagnostics-14-01182" class="html-bibr">30</a>,<a href="#B31-diagnostics-14-01182" class="html-bibr">31</a>,<a href="#B32-diagnostics-14-01182" class="html-bibr">32</a>,<a href="#B45-diagnostics-14-01182" class="html-bibr">45</a>].</p>
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14 pages, 6908 KiB  
Article
Predicting Rheumatoid Arthritis Development Using Hand Ultrasound and Machine Learning—A Two-Year Follow-Up Cohort Study
by Mahyar Daskareh, Azin Vakilpour, Erfan Barzegar-Golmoghani, Saeid Esmaeilian, Samira Gilanchi, Fatemeh Ezzati, Majid Alikhani, Elham Rahmanipour, Niloofar Amini, Mohammad Ghorbani and Parham Pezeshk
Diagnostics 2024, 14(11), 1181; https://doi.org/10.3390/diagnostics14111181 - 4 Jun 2024
Viewed by 1334
Abstract
Background: The early diagnosis and treatment of rheumatoid arthritis (RA) are essential to prevent joint damage and enhance patient outcomes. Diagnosing RA in its early stages is challenging due to the nonspecific and variable clinical signs and symptoms. Our study aimed to identify [...] Read more.
Background: The early diagnosis and treatment of rheumatoid arthritis (RA) are essential to prevent joint damage and enhance patient outcomes. Diagnosing RA in its early stages is challenging due to the nonspecific and variable clinical signs and symptoms. Our study aimed to identify the most predictive features of hand ultrasound (US) for RA development and assess the performance of machine learning models in diagnosing preclinical RA. Methods: We conducted a prospective cohort study with 326 adults who had experienced hand joint pain for less than 12 months and no clinical arthritis. We assessed the participants clinically and via hand US at baseline and followed them for 24 months. Clinical progression to RA was defined according to the ACR/EULAR criteria. Regression modeling and machine learning approaches were used to analyze the predictive US features. Results: Of the 326 participants (45.10 ± 11.37 years/83% female), 123 (37.7%) developed clinical RA during follow-up. At baseline, 84.6% of the progressors had US synovitis, whereas 16.3% of the non-progressors did (p < 0.0001). Only 5.7% of the progressors had positive PD. Multivariate analysis revealed that the radiocarpal synovial thickness (OR = 39.8), PIP/MCP synovitis (OR = 68 and 39), and wrist effusion (OR = 12.56) on US significantly increased the odds of developing RA. ML confirmed these US features, along with the RF and anti-CCP levels, as the most important predictors of RA. Conclusions: Hand US can identify preclinical synovitis and determine the RA risk. The radiocarpal synovial thickness, PIP/MCP synovitis, wrist effusion, and RF and anti-CCP levels are associated with RA development. Full article
(This article belongs to the Special Issue Musculoskeletal Imaging 2023)
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<p>Study flow chart.</p>
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<p>Examples of joint gray scale ultrasound findings. (<b>A</b>) Wrist joint showing synovial hypertrophy (indicated by double-headed blue arrows) and joint capsule distention (double-headed green arrows). (<b>B</b>) Proximal interphalangeal (PIP) joint showing synovial hypertrophy (indicated by double-headed blue arrows) and joint capsule distention (double-headed green arrows). Osteophytes are marked by red arrows.</p>
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<p>Examples of joint Doppler ultrasound findings. (<b>A</b>) Radiocarpal joint showing synovial thickening, marked as “1” within the green rectangle, and increased vascularity on Doppler ultrasound, indicated by blue and red areas within the green rectangle. (<b>B</b>) Proximal interphalangeal (PIP) joint with synovitis and hypervascularity on Doppler ultrasound, indicated by blue and red areas within the green rectangle.</p>
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<p>Examples of joint Doppler ultrasound findings. (<b>A</b>) Radiocarpal joint showing synovial thickening, marked as “1” within the green rectangle, and increased vascularity on Doppler ultrasound, indicated by blue and red areas within the green rectangle. (<b>B</b>) Proximal interphalangeal (PIP) joint with synovitis and hypervascularity on Doppler ultrasound, indicated by blue and red areas within the green rectangle.</p>
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<p>Ultrasound findings of the MCP joint. (<b>A</b>) Grade II joint capsule distension is observed without significant hypervascularity. The double-headed blue arrows indicate synovial thickness. (<b>B</b>) Moderate joint effusion and joint capsule thickening. The double-headed white arrows indicate joint capsule thickness, yellow arrows show joint effusion, and the green rectangle encompasses Color Doppler imaging to show vascularity. (<b>C</b>) A normal MCP joint with standard synovial thickness, as shown by the double-headed blue arrows. The red double-headed arrow represents the normal MCP joint anatomy.</p>
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<p>The ROC (<b>left panel</b>) and precession–recall (<b>right panel</b>) curves.</p>
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<p>The predictive value of the US and laboratory variables according to the random forest algorithm.</p>
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Systematic Review
Evaluation of Bitemark Analysis’s Potential Application in Forensic Identification: A Systematic Review
by Nikolaos Christoloukas, Anastasia Mitsea, Aliki Rontogianni, Evangelos Papadakis and Christos Angelopoulos
Diagnostics 2024, 14(11), 1180; https://doi.org/10.3390/diagnostics14111180 - 4 Jun 2024
Cited by 1 | Viewed by 1438
Abstract
Bitemark analysis involves the examination of both patterned injuries and contextual circumstances, combining morphological and positional data. Considering the uniqueness of human dentition, bitemarks caused by teeth on skin or impressions on flexible surfaces could assist in human identification. Aims: to investigate the [...] Read more.
Bitemark analysis involves the examination of both patterned injuries and contextual circumstances, combining morphological and positional data. Considering the uniqueness of human dentition, bitemarks caused by teeth on skin or impressions on flexible surfaces could assist in human identification. Aims: to investigate the available literature systematically and evaluate the scientific evidence published over the past decade concerning the potential application of bitemark analysis in forensic identification. Methods: Two researchers meticulously searched electronic databases from January 2012 to December 2023, including Scopus, PubMed, Web of Science, and the Cochrane Library. Adhering to the PRISMA statement guidelines, this review employed appropriate medical subject headings (MeSHs) and free-text synonyms. Strict inclusion and exclusion criteria were applied during article retrieval. Results: The findings yielded controversial outcomes. Approximately two-thirds of the articles concluded that bitemark analysis is useful in forensic identification, while the remaining articles did not report statistically significant outcomes and cautioned against relying solely on bitemark analysis for identification. Conclusions: The authors assert that bitemark analysis can be a reliable and complementary method for forensic identification, contingent upon the establishment and adoption of a universally accepted global protocol for data collection, processing, and interpretation. Undoubtedly, recent years have witnessed a notable increase in research focused on bitemark identification, driven by the goal of achieving quantitative, objective, reproducible, and accurate results. Full article
(This article belongs to the Special Issue Updates on Forensic Pathology)
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<p>PRISMA flow diagram.</p>
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20 pages, 4316 KiB  
Systematic Review
Diagnosis and Management of Simple and Complicated Meconium Ileus in Cystic Fibrosis, a Systematic Review
by Mădălina Andreea Donos, Gabriela Ghiga, Laura Mihaela Trandafir, Elena Cojocaru, Viorel Țarcă, Lăcrămioara Ionela Butnariu, Valentin Bernic, Eugenia Moroșan, Iulia Cristina Roca, Dana Elena Mîndru and Elena Țarcă
Diagnostics 2024, 14(11), 1179; https://doi.org/10.3390/diagnostics14111179 - 4 Jun 2024
Viewed by 1670
Abstract
The early management of neonates with meconium ileus (MI) and cystic fibrosis (CF) is highly variable across countries and is not standardized. We conducted a systematic review according to the Preferred Reporting Items for Systematic Reviews and Meta-analyses statement. The protocol was registered [...] Read more.
The early management of neonates with meconium ileus (MI) and cystic fibrosis (CF) is highly variable across countries and is not standardized. We conducted a systematic review according to the Preferred Reporting Items for Systematic Reviews and Meta-analyses statement. The protocol was registered in PROSPERO (CRD42024522838). Studies from three providers of academic search engines were checked for inclusion criteria, using the following search terms: meconium ileus AND cystic fibrosis OR mucoviscidosis. Regarding the patient population studied, the inclusion criteria were defined using our predefined PICOT framework: studies on neonates with simple or complicated meconium which were confirmed to have cystic fibrosis and were conservatively managed or surgically treated. Results: A total of 566 publications from the last 10 years were verified by the authors of this review to find the most recent and relevant data, and only 8 met the inclusion criteria. Prenatally diagnosed meconium pseudocysts, bowel dilation, and ascites on ultrasound are predictors of neonatal surgery and risk factor for negative 12-month clinical outcomes in MI-CF newborns. For simple MI, conservative treatment with hypertonic solutions enemas can be effective in more than 25% of cases. If repeated enemas fail to disimpact the bowels, the Bishop–Koop stoma is a safe option. No comprehensive research has been conducted so far to determine the ideal surgical protocol for complicated MI. We only found three studies that reported the types of stomas performed and another study comparing the outcomes of patients depending on the surgical management; the conclusions are contradictory especially since the number of cases analyzed in each study was small. Between 18% and 38% of patients with complicated MI will require reoperation for various complications and the mortality rate varies between 0% and 8%. Conclusion: This study reveals a lack of strong data to support management decisions, unequivocally shows that the care of infants with MI is not standardized, and suggests a great need for international collaborative studies. Full article
(This article belongs to the Special Issue Advances in the Diagnosis and Management of Pediatric Diseases)
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<p>PRISMA flowchart. Notes: PRISMA figure adapted from Liberati A, et al. [<a href="#B11-diagnostics-14-01179" class="html-bibr">11</a>], Creative Commons.</p>
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<p>Clinical appearance of a patient with simple meconium ileus.</p>
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<p>Abdominal X-ray showing dilated intestinal loops and a ground glass appearance; antero-posterior incidence and profile incidence.</p>
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<p>Intraoperative appearance of a meconium ileus showing a mesenteric defect, dilated intestinal loops and a meconium inspissated distal ileum.</p>
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<p>Intraoperative appearance of a dense, adherent meconium extracted from distal ileum.</p>
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<p>Clinical appearance of a patient with meconium peritonitis.</p>
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<p>Abdominal X-ray showing dilated intestinal loops in the upper part of the abdomen and opacity due to meconium cyst in the rest of the abdomen.</p>
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<p>Intraoperative appearance of a meconium peritonitis with removal of the cystic membrane.</p>
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<p>Intestinal stenosis with dilation of the ileon above in a patient with CF.</p>
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Review
Speckle Tracking Echocardiography in Patients with Non-Ischemic Dilated Cardiomyopathy Who Undergo Cardiac Resynchronization Therapy: A Narrative Review
by Nikolaos Antoniou, Maria Kalaitzoglou, Lamprini Tsigkriki, Amalia Baroutidou, Adam Tsaousidis, George Koulaouzidis, George Giannakoulas and Dafni Charisopoulou
Diagnostics 2024, 14(11), 1178; https://doi.org/10.3390/diagnostics14111178 - 3 Jun 2024
Cited by 1 | Viewed by 1866
Abstract
Non-ischemic dilated cardiomyopathy (DCM) represents a significant cause of heart failure, defined as the presence of left ventricular (LV) dilatation and systolic dysfunction unexplained solely by abnormal loading conditions or coronary artery disease. Cardiac resynchronization therapy (CRT) has emerged as a cornerstone in [...] Read more.
Non-ischemic dilated cardiomyopathy (DCM) represents a significant cause of heart failure, defined as the presence of left ventricular (LV) dilatation and systolic dysfunction unexplained solely by abnormal loading conditions or coronary artery disease. Cardiac resynchronization therapy (CRT) has emerged as a cornerstone in the management of heart failure, particularly in patients with DCM. However, identifying patients who will benefit the most from CRT remains challenging. Speckle tracking echocardiography (STE) has garnered attention as a non-invasive imaging modality that allows for the quantitative assessment of myocardial mechanics, offering insights into LV function beyond traditional echocardiographic parameters. This comprehensive review explores the role of STE in guiding patient selection and optimizing outcomes in CRT for DCM. By assessing parameters such as LV strain, strain rate, and dyssynchrony, STE enables a more precise evaluation of myocardial function and mechanical dyssynchrony, aiding in the identification of patients who are most likely to benefit from CRT. Furthermore, STE provides valuable prognostic information and facilitates post-CRT optimization by guiding lead placement and assessing response to therapy. Through an integration of STE with CRT, clinicians can enhance patient selection, improve procedural success rates, and ultimately, optimize clinical outcomes in patients with DCM. This review underscores the pivotal role of STE in advancing personalized management strategies for DCM patients undergoing CRT. Full article
(This article belongs to the Special Issue Advances in Cardiovascular Magnetic Resonance, 2nd Edition)
13 pages, 3519 KiB  
Article
Measurement of Scapholunate Joint Space Width on Real-Time MRI—A Feasibility Study
by Jonathan Ehmig, Kijanosh Lehmann, Günther Engel, Fabian Kück, Joachim Lotz, Sebastian Aeffner, Ali Seif Amir Hosseini, Arndt F. Schilling and Babak Panahi
Diagnostics 2024, 14(11), 1177; https://doi.org/10.3390/diagnostics14111177 - 3 Jun 2024
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Abstract
Introduction: The scapholunate interosseous ligament is pivotal for wrist stability, and its impairment can result in instability and joint degeneration. This study explores the application of real-time MRI for dynamic assessment of the scapholunate joint during wrist motion with the objective of determining [...] Read more.
Introduction: The scapholunate interosseous ligament is pivotal for wrist stability, and its impairment can result in instability and joint degeneration. This study explores the application of real-time MRI for dynamic assessment of the scapholunate joint during wrist motion with the objective of determining its diagnostic value in efficacy in contrast to static imaging modalities. Materials and Methods: Ten healthy participants underwent real-time MRI scans during wrist ab/adduction and fist-clenching maneuvers. Measurements were obtained at proximal, medial, and distal landmarks on both dynamic and static images with statistical analyses conducted to evaluate the reliability of measurements at each landmark and the concordance between dynamic measurements and established static images. Additionally, inter- and intraobserver variabilities were evaluated. Results: Measurements of the medial landmarks demonstrated the closest agreement with static images and exhibited the least scatter. Distal landmark measurements showed a similar level of agreement but with increased scatter. Proximal landmark measurements displayed substantial deviation, which was accompanied by an even greater degree of scatter. Although no significant differences were observed between the ab/adduction and fist-clenching maneuvers, both inter- and intraobserver variabilities were significant across all measurements. Conclusions: This study highlights the potential of real-time MRI in the dynamic assessment of the scapholunate joint particularly at the medial landmark. Despite promising results, challenges such as measurement variability need to be addressed. Standardization and integration with advanced image processing methods could significantly enhance the accuracy and reliability of real-time MRI, paving the way for its clinical implementation in dynamic wrist imaging studies. Full article
(This article belongs to the Section Medical Imaging and Theranostics)
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Figure 1

Figure 1
<p>Series of images captured from radial (<b>1</b>) to ulnar deviation (<b>4</b>) during the abduction/adduction maneuver. These images were acquired using a T1-weighted rtMRI sequence with iterative reconstruction, achieving a temporal resolution of 50 ms. Images (<b>1</b>–<b>4</b>) correspond to frames 156, 207, 226, and 262 out of a total of 300 frames.</p>
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<p>Measurement of the SLJW in three positions: at the proximal landmark (red), the medial landmark (green) and the distal landmark (yellow).</p>
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<p>Measurement of the wrist angle determined by the extension of the third metacarpal and the distal radial joint line.</p>
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<p>Boxplot diagram showing the average SL width during the fist clench and the ab-/adduction maneuver regarding each position separately.</p>
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<p>Boxplot diagram showing the average SL widths measured by observer 1 at two different points in time.</p>
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<p>Boxplot diagram showing average SL-widths measured by observer 1 and 2.</p>
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