Diagnostics

20 pages, 2429 KiB

Open AccessArticle

Deep Learning-Based Object Detection Strategies for Disease Detection and Localization in Chest X-Ray Images

by Yi-Ching Cheng, Yi-Chieh Hung, Guan-Hua Huang, Tai-Been Chen, Nan-Han Lu, Kuo-Ying Liu and Kuo-Hsuan Lin

Diagnostics 2024, 14(23), 2636; https://doi.org/10.3390/diagnostics14232636 - 22 Nov 2024

Abstract

Background and Objectives: Chest X-ray (CXR) images are commonly used to diagnose respiratory and cardiovascular diseases. However, traditional manual interpretation is often subjective, time-consuming, and prone to errors, leading to inconsistent detection accuracy and poor generalization. In this paper, we present deep learning-based [...] Read more.

Background and Objectives: Chest X-ray (CXR) images are commonly used to diagnose respiratory and cardiovascular diseases. However, traditional manual interpretation is often subjective, time-consuming, and prone to errors, leading to inconsistent detection accuracy and poor generalization. In this paper, we present deep learning-based object detection methods for automatically identifying and annotating abnormal regions in CXR images. Methods: We developed and tested our models using disease-labeled CXR images and location-bounding boxes from E-Da Hospital. Given the prevalence of normal images over diseased ones in clinical settings, we created various training datasets and approaches to assess how different proportions of background images impact model performance. To address the issue of limited examples for certain diseases, we also investigated few-shot object detection techniques. We compared convolutional neural networks (CNNs) and Transformer-based models to determine the most effective architecture for medical image analysis. Results: The findings show that background image proportions greatly influenced model inference. Moreover, schemes incorporating binary classification consistently improved performance, and CNN-based models outperformed Transformer-based models across all scenarios. Conclusions: We have developed a more efficient and reliable system for the automated detection of disease labels and location bounding boxes in CXR images. Full article

(This article belongs to the Special Issue Advances in Medical Image Processing, Segmentation and Classification)

14 pages, 3086 KiB

Open AccessArticle

Should the Faecal Microbiota Composition Be Determined to Certify a Faecal Donor?

by Celia Morales, Luna Ballestero, Patricia del Río, Raquel Barbero-Herranz, Leticia Olavarrieta, Leticia Gómez-Artíguez, Javier Galeano, José Avendaño-Ortiz, Juan Basterra and Rosa del Campo

Diagnostics 2024, 14(23), 2635; https://doi.org/10.3390/diagnostics14232635 - 22 Nov 2024

Abstract

Background/Objectives: Faecal microbiota transplantation (FMT) is considered a safe and effective therapy for recurrent Clostridioides difficile infection. It is the only current clinical indication for this technique, although numerous clinical research studies and trials propose its potential usefulness for treating other pathologies. Donor [...] Read more.

Background/Objectives: Faecal microbiota transplantation (FMT) is considered a safe and effective therapy for recurrent Clostridioides difficile infection. It is the only current clinical indication for this technique, although numerous clinical research studies and trials propose its potential usefulness for treating other pathologies. Donor selection is a very rigorous process, based on a personal lifestyle interview and the absence of known pathogens in faeces and serum, leading to only a few volunteers finally achieving the corresponding certification. However, despite the high amount of data generated from the ongoing research studies relating microbiota and health, there is not yet a consensus defining what is a “healthy” microbiota. To date, knowledge of the composition of the microbiota is not a requirement to be a faecal donor. The aim of this work was to evaluate whether the analysis of the composition of the microbiota by massive sequencing of 16S rDNA could be useful in the selection of the faecal donors. Methods: Samples from 10 certified donors from Mikrobiomik Healthcare Company were collected and sequenced using 16S rDNA in a MiSeq (Illumina) platform. Alpha (Chao1 and Shannon indices) and beta diversity (Bray–Curtis) were performed using the bioinformatic web server Microbiome Analyst. The differences in microbial composition at the genera and phyla levels among the donors were evaluated. Results: The microbial diversity metric by alpha diversity indexes showed that most donors exhibited a similar microbial diversity and richness, whereas beta diversity by 16S rDNA sequencing revealed significant inter-donor differences, with a more stable microbial composition over time in some donors. The phyla Bacillota and Bacteroidota were predominant in all donors, while the density of other phyla, such as Actinomycota and Pseudomonota, varied among individuals. Each donor exhibited a characteristic genera distribution pattern; however, it was possible to define a microbiome core consisting of the genera Agathobacter, Eubacterium, Bacteroides, Clostridia UCG-014 and Akkermansia. Conclusions: The results suggest that donor certification does not need to rely exclusively on their microbiota composition, as it is unique to each donor. While one donor showed greater microbial diversity and richness, clear criteria for microbial normality and health have yet to be established. Therefore, donor certification should focus more on clinical and lifestyle aspects. Full article

(This article belongs to the Special Issue Microbiology Laboratory: Sample Collection and Diagnosis Advances)

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17 pages, 1226 KiB

Open AccessArticle

The Impact of the SMOTE Method on Machine Learning and Ensemble Learning Performance Results in Addressing Class Imbalance in Data Used for Predicting Total Testosterone Deficiency in Type 2 Diabetes Patients

by Mehmet Kivrak, Ugur Avci, Hakki Uzun and Cuneyt Ardic

Diagnostics 2024, 14(23), 2634; https://doi.org/10.3390/diagnostics14232634 - 22 Nov 2024

Abstract

Background and Objective: Diabetes Mellitus is a long-term, multifaceted metabolic condition that necessitates ongoing medical management. Hypogonadism is a syndrome that is a clinical and/or biochemical indicator of testosterone deficiency. Cross-sectional studies have reported that 20–80.4% of all men with Type 2 diabetes [...] Read more.

Background and Objective: Diabetes Mellitus is a long-term, multifaceted metabolic condition that necessitates ongoing medical management. Hypogonadism is a syndrome that is a clinical and/or biochemical indicator of testosterone deficiency. Cross-sectional studies have reported that 20–80.4% of all men with Type 2 diabetes have hypogonadism, and Type 2 diabetes is related to low testosterone. This study presents an analysis of the use of ML and EL classifiers in predicting testosterone deficiency. In our study, we compared optimized traditional ML classifiers and three EL classifiers using grid search and stratified k-fold cross-validation. We used the SMOTE method for the class imbalance problem. Methods: This database contains 3397 patients for the assessment of testosterone deficiency. Among these patients, 1886 patients with Type 2 diabetes were included in the study. In the data preprocessing stage, firstly, outlier/excessive observation analyses were performed with LOF and missing value analyses were performed with random forest. The SMOTE is a method for generating synthetic samples of the minority class. Four basic classifiers, namely MLP, RF, ELM and LR, were used as first-level classifiers. Tree ensemble classifiers, namely ADA, XGBoost and SGB, were used as second-level classifiers. Results: After the SMOTE, while the diagnostic accuracy decreased in all base classifiers except ELM, sensitivity values increased in all classifiers. Similarly, while the specificity values decreased in all classifiers, F1 score increased. The RF classifier gave more successful results on the base-training dataset. The most successful ensemble classifier in the training dataset was the ADA classifier in the original data and in the SMOTE data. In terms of the testing data, XGBoost is the most suitable model for your intended use in evaluating model performance. XGBoost, which exhibits a balanced performance especially when the SMOTE is used, can be preferred to correct class imbalance. Conclusions: The SMOTE is used to correct the class imbalance in the original data. However, as seen in this study, when the SMOTE was applied, the diagnostic accuracy decreased in some models but the sensitivity increased significantly. This shows the positive effects of the SMOTE in terms of better predicting the minority class. Full article

(This article belongs to the Section Machine Learning and Artificial Intelligence in Diagnostics)

5 pages, 3726 KiB

Open AccessInteresting Images

Cytomegalovirus Enterocolitis in a Patient Treated with Methylprednisolone for Amiodarone Hypersensitivity Pneumonitis

by Darinka Purg, Marko Hojnik and Nika Aleksandra Kravos Tramšek

Diagnostics 2024, 14(23), 2633; https://doi.org/10.3390/diagnostics14232633 - 22 Nov 2024

Abstract

Cytomegalovirus (CMV) is a common cause of infection in immunocompromised individuals, such as patients with hematological malignancies or AIDS, but can also occur in patients with other acquired immunodeficiencies. In tissue-invasive diseases, CMV diagnosis requires CMV DNA in the plasma and the histological [...] Read more.

Cytomegalovirus (CMV) is a common cause of infection in immunocompromised individuals, such as patients with hematological malignancies or AIDS, but can also occur in patients with other acquired immunodeficiencies. In tissue-invasive diseases, CMV diagnosis requires CMV DNA in the plasma and the histological confirmation of CMV in a tissue or organ. Evidence of CMV colitis requires a characteristic endoscopic picture with ulcers with a well-defined, convex appearance and CMV viral inclusions in the form of an “owl’s eye” on mucosal sections stained with hematoxylin and eosin. CMV-specific immunohistochemistry is the gold standard for identifying CMV in tissue biopsies. It is important to consider a CMV infection in the diagnostic process, as it may delay the diagnosis and the treatment. We present the case of a 78-year-old patient with amiodarone interstitial lung disease who was treated with methylprednisolone. Two weeks after the start of his treatment, he was admitted to the hospital for acute gastroenterocolitis and Addisonian crisis. An examination had confirmed a tissue-invasive CMV disease. He was treated with valganciclovir for a total of six weeks. After the completion of treatment, the patient showed no clinical signs of CMV infection, and both laboratory and histological examinations revealed no residual CMV disease. Tissue-invasive CMV disease can occur in patients with acquired immunodeficiency, which may result from various causes, including glucocorticoid treatment. Full article

(This article belongs to the Section Diagnostic Microbiology and Infectious Disease)

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19 pages, 2110 KiB

Open AccessArticle

Transforming Cancer Classification: The Role of Advanced Gene Selection

by Abrar Yaqoob, Mushtaq Ahmad Mir, G. V. V. Jagannadha Rao and Ghanshyam G. Tejani

Diagnostics 2024, 14(23), 2632; https://doi.org/10.3390/diagnostics14232632 - 22 Nov 2024

Abstract

Background/Objectives: Accurate classification in cancer research is vital for devising effective treatment strategies. Precise cancer classification depends significantly on selecting the most informative genes from high-dimensional datasets, a task made complex by the extensive data involved. This study introduces the Two-stage MI-PSA Gene [...] Read more.

Background/Objectives: Accurate classification in cancer research is vital for devising effective treatment strategies. Precise cancer classification depends significantly on selecting the most informative genes from high-dimensional datasets, a task made complex by the extensive data involved. This study introduces the Two-stage MI-PSA Gene Selection algorithm, a novel approach designed to enhance cancer classification accuracy through robust gene selection methods. Methods: The proposed method integrates Mutual Information (MI) and Particle Swarm Optimization (PSO) for gene selection. In the first stage, MI acts as an initial filter, identifying genes rich in cancer-related information. In the second stage, PSO refines this selection to pinpoint an optimal subset of genes for accurate classification. Results: The experimental findings reveal that the MI-PSA method achieves a best classification accuracy of 99.01% with a selected subset of 19 genes, substantially outperforming the MI and SVM methods, which attain best accuracies of 93.44% and 91.26%, respectively, for the same gene count. Furthermore, MI-PSA demonstrates superior performance in terms of average and worst-case accuracy, underscoring its robustness and reliability. Conclusions: The MI-PSA algorithm presents a powerful approach for identifying critical genes essential for precise cancer classification, advancing both our understanding and management of this complex disease. Full article

(This article belongs to the Special Issue AI and Digital Health for Disease Diagnosis and Monitoring)

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12 pages, 789 KiB

Open AccessArticle

Improving Outcomes of CT-Guided Malignant Lung Lesion Microwave Ablation by Tract Sealing Using Venous Blood Clot

by Aurimas Mačionis, Gertrūda Maziliauskienė, Rūta Dubeikaitė, Donatas Vajauskas, Dalia Adukauskienė, Irena Nedzelskienė and Marius Žemaitis

Diagnostics 2024, 14(23), 2631; https://doi.org/10.3390/diagnostics14232631 - 22 Nov 2024

Abstract

Background: Complications, particularly pneumothorax, are common following lung interventions and occasionally necessitate further examinations, extend hospital stays, increase treatment costs, and result in long-term health impairment or even death. A few lung intervention tract sealants have been explored to reduce procedure-related complications. [...] Read more.

Background: Complications, particularly pneumothorax, are common following lung interventions and occasionally necessitate further examinations, extend hospital stays, increase treatment costs, and result in long-term health impairment or even death. A few lung intervention tract sealants have been explored to reduce procedure-related complications. Objectives: The primary objective of this prospective non-randomized study was to assess the complication rates and risk factors for computed tomography-guided lung microwave ablation (MWA) with autologous blood clot as a tract sealant. Methods: Twenty-one patients underwent a total of 26 MWA sessions for lung malignancy followed by injection of the patient’s clotted venous blood into the ablation tract while retracting the coaxial needle. Ablation tract sealing was successful in all MWA sessions. Results: Pneumothorax was the only complication observed in five (19.2%) sessions, with one patient (3.8%) requiring chest tube insertion. The male sex was a statistically significant risk factor for pneumothorax (p = 0.042), and patients with lung emphysema had almost fivefold higher odds of developing pneumothorax (OR 4.8; 95% CI, 0.617–37.351; p = 0.281). Conclusions: This study concludes that pneumothorax is the primary complication following lung MWA, and the male sex is a risk factor. Ablation tract sealing with autologous venous blood is a straightforward and inexpensive technique that can reduce the incidence of procedure-related pneumothorax. Full article

(This article belongs to the Special Issue Lung Cancer: Screening, Diagnosis and Management)

12 pages, 1614 KiB

Open AccessSystematic Review

Diagnostic Value of Nuclear Hybrid Imaging in Malignant Struma Ovarii: A Systematic Review of Case Reports

by Claudiu Peștean and Doina Piciu

Diagnostics 2024, 14(23), 2630; https://doi.org/10.3390/diagnostics14232630 - 22 Nov 2024

Abstract

Background: Struma ovarii is a rare tumor, a type of ovarian mature teratoma consisting over 50% of its mass in thyroid ectopic tissue; 5% to 10% of cases, as described in the literature, are malignant and well known as malignant struma ovarii or [...] Read more.

Background: Struma ovarii is a rare tumor, a type of ovarian mature teratoma consisting over 50% of its mass in thyroid ectopic tissue; 5% to 10% of cases, as described in the literature, are malignant and well known as malignant struma ovarii or thyroid cancer from struma ovarii. Due to the limited number of malignant struma ovarii cases, the diagnostic and therapeutic approach of malignant struma ovarii lacks in standardization. Methods: We performed a comprehensive search on the English language PubMed and Google Scholar. We used specific controlled keywords “PET CT”, “SPECT CT”, “PET MRI”, “malignant struma ovarii”, “hybrid imaging” and “mature ovarian teratoma”. Upon the retrieval of potential articles, we analyzed them for their eligibility. The inclusion criteria were: articles discussing the role of PET/CT and SPECT/CT hybrid imaging in malignant struma ovarii, full-text articles on the topic of interest and English publications. The exclusion criteria were articles not directly related to the hybrid imaging and not discussing the subject of malignant struma ovarii. Results: A total of 64 articles were screened, 35 duplicates were eliminated, 15 articles excluded and a total number of 14 articles were included for this systematic review, 13 of them being case reports and one being a case report with a systematic review. F-18 FDG PET/CT contributed in seven cases (50%), I-131 NaI SPECT/CT in seven cases (50%) and I-124 NaI PET/CT in two cases (14.29%). In two cases, 131 NaI SPECT/CT and F-18 FDG PET/CT were used as complementary investigation tools. The hybrid imaging methods used as a part of the diagnostic strategy were accompanied by several diagnostic alternatives: ultrasounds, CT, MRI, I-131 NaI WBS and I-123 NaI WBS. Conclusions: There is no consistent or standardized diagnostic and therapeutic approach for malignant struma ovarii. Hybrid imaging methods may be of great value in initial diagnostic and the association of F-18 FDG PET/CT and I-131 NaI SPECT/CT is a successful diagnostic approach. The association of hybrid imaging with other diagnostic imaging alternatives in initial diagnostic and follow up is essential. Full article

(This article belongs to the Special Issue An Update on Radiological Diagnosis in 2024)

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12 pages, 1228 KiB

Open AccessArticle

Biomarkers of Intestinal Permeability Are Influenced by Diet in Patients with Ulcerative Colitis—An Exploratory Study

by Natasha Haskey, Maximillian Eisele, Andreina Bruno, Raylene A. Reimer, Munazza Yousuf, Lorian M. Taylor, Remo Panaccione, Subrata Ghosh and Maitreyi Raman

Diagnostics 2024, 14(23), 2629; https://doi.org/10.3390/diagnostics14232629 - 22 Nov 2024

Abstract

Background and Objectives: The disruption of the intestinal epithelial barrier leads to increased intestinal permeability (IP), allowing endotoxins and pathogens to enter the bloodstream contributing to chronic inflammation. Western diets are associated with increased IP, while diets rich in polyphenols, fiber, and omega-3 [...] Read more.

Background and Objectives: The disruption of the intestinal epithelial barrier leads to increased intestinal permeability (IP), allowing endotoxins and pathogens to enter the bloodstream contributing to chronic inflammation. Western diets are associated with increased IP, while diets rich in polyphenols, fiber, and omega-3 fats are linked to decreased IP. The relationship between diet, disease activity, and IP in ulcerative colitis (UC) is poorly understood. We evaluated the effects of serum zonulin and lipopolysaccharide-binding protein (LBP) and their relationship to dietary factors in UC. Methods: A cross-sectional analysis was conducted on 37 UC participants who had baseline measures of dietary intake, disease activity and serum. Serum LBP and zonulin levels were measured by ELISA. Spearman’s rank correlations explored relationships between baseline IP, diet, and disease activity. Results: The median age was 35 years (29–47 years), 54% were male, and 76% were in clinical remission or had mild disease activity (partial Mayo score ≤ 4). LBP was significantly correlated (p < 0.05) with disease activity (partial Mayo score (r = 0.31), and positively correlated with total fat (r = 0.42) and refined grains (r = 0.35), but negatively correlated with fruit consumption (r = −0.50) and diet quality (r = −0.33). Zonulin was negatively correlated with protein (r = −0.39), niacin (r = −0.52) and vitamin B12 (r = −0.45) with a trend for significance (p = 0.06) with body mass index (r = 0.32). Conclusions: Baseline LBP levels were correlated with disease activity markers and dietary factors, suggesting that it could be a useful biomarker for assessing disease activity and diet quality in UC. Further trials are needed to confirm these findings. Full article

(This article belongs to the Special Issue Inflammatory Pathologies)

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13 pages, 4311 KiB

Open AccessArticle

Active Surveillance in Early Thyroid Cancer: A Meta-Analysis

by Li-Jen Liao, Yukiko Ono, Shun-Fa Hung, Yong-Chen Chen and Wan-Lun Hsu

Diagnostics 2024, 14(23), 2628; https://doi.org/10.3390/diagnostics14232628 - 22 Nov 2024

Abstract

Background/Objectives: There remain several challenges to the acceptance and standardization of active surveillance (AS) in patients with early thyroid cancer. The purpose of this study was to update the evidence of tumor progression outcomes in AS to support resolution of clinical concerns [...] Read more.

Background/Objectives: There remain several challenges to the acceptance and standardization of active surveillance (AS) in patients with early thyroid cancer. The purpose of this study was to update the evidence of tumor progression outcomes in AS to support resolution of clinical concerns and to examine the effect of follow-up duration, period context such as diagnostic techniques, and tumor size at baseline on outcomes. Methods: PubMed, Web of Science, and Embase were used to search for original articles in English until January 2024. The main outcomes were the pooled proportion of patients who showed tumor growth ≥ 3 mm, metastasis to cervical lymph nodes, and conversion to delayed thyroid surgery. A single-arm meta-analysis was performed using a random-effects model. Results: Fourteen studies with 7291 patients were included in the analysis. Pooled results showed that 5.6% (95% CI: 4.2–7.4) of patients increased tumor diameter by more than 3 mm, 1.1% (95% CI: 0.9–1.4) developed cervical lymph node metastases by clinical diagnosis and 3.6% (95% CI: 3.1–4.2) by pathology, 12.7% (95% CI: 9.9–16.1) of patients converted to delayed surgery, with 31.6% (95% CI: 25.3–38.7) of those conversions being due to tumor progression. Subgroup analysis showed a small difference in the proportion of outcomes by baseline tumor size but no increase in the proportion of tumor progression or conversion to surgery due to other factors. Conclusions: This meta-analysis suggests long-term stability in the proportion of tumor progression in AS and less susceptibility to external influences. Full article

(This article belongs to the Section Clinical Diagnosis and Prognosis)

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14 pages, 1119 KiB

Open AccessArticle

Association of the Naples Prognostic Score with Long-Term Adverse Events in Chronic Limb-Threatening Ischemia After Below-the-Knee Endovascular Revascularization

by Emir Dervis, Aykun Hakgor, Muhammed Mert Goksu, Idris Yakut, Hasan Can Konte, Cafer Panc, Ismail Gurbak, Ali Kemal Kalkan, Hamdi Pusuroglu, Ahmet Arif Yalcin and Mehmet Erturk

Diagnostics 2024, 14(23), 2627; https://doi.org/10.3390/diagnostics14232627 - 22 Nov 2024

Abstract

Objectives: Chronic limb-threatening ischemia (CLTI) is the most severe manifestation of peripheral artery disease (PAD) and is associated with high morbidity and mortality. The Naples prognostic score (NPS), a composite marker incorporating serum albumin, total cholesterol, neutrophil-to-lymphocyte ratio (NLR), and lymphocyte-to-monocyte ratio (LMR), [...] Read more.

Objectives: Chronic limb-threatening ischemia (CLTI) is the most severe manifestation of peripheral artery disease (PAD) and is associated with high morbidity and mortality. The Naples prognostic score (NPS), a composite marker incorporating serum albumin, total cholesterol, neutrophil-to-lymphocyte ratio (NLR), and lymphocyte-to-monocyte ratio (LMR), has shown prognostic value in various cardiovascular conditions. This study aimed to evaluate the prognostic significance of the NPS in predicting all-cause mortality and any kind of amputation in patients with CLTI undergoing endovascular treatment (EVT) for below-the-knee (BTK) lesions. Methods: In this retrospective analysis, 191 patients diagnosed with CLTI and treated with EVT for BTK lesions between 2017 and 2023 were stratified into three groups based on the NPS: low (0–1), intermediate (2), and high (3–4). The primary endpoint was all-cause mortality, while the secondary endpoint was any kind of amputation. Results: A higher NPS was significantly associated with increased all-cause mortality (hazard ratio: 3.66; 95% confidence interval: 1.72–7.78; p < 0.001), while no significant association was observed between the NPS and major amputation. Independent predictors of mortality included a high NPS, reduced left ventricular ejection fraction, and impaired renal function. Conclusions: The NPS is an independent predictor of long-term mortality in CLTI patients undergoing EVT for BTK lesions. Full article

(This article belongs to the Topic Metabolic Syndrome, Biomarkers and Lifestyles)

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1 pages, 143 KiB

Open AccessRetraction

RETRACTED: Monda et al. Left Ventricular Non-Compaction in Children: Aetiology and Diagnostic Criteria. Diagnostics 2024, 14, 115

by Emanuele Monda, Gianantonio De Michele, Gaetano Diana, Federica Verrillo, Marta Rubino, Annapaola Cirillo, Adelaide Fusco, Federica Amodio, Martina Caiazza, Francesca Dongiglio, Giuseppe Palmiero, Pietro Buono, Maria Giovanna Russo and Giuseppe Limongelli

Diagnostics 2024, 14(23), 2626; https://doi.org/10.3390/diagnostics14232626 - 22 Nov 2024

Abstract

The journal retracts the article, titled “Left Ventricular Non-Compaction in Children: Aetiology and Diagnostic Criteria” [...] Full article

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

10 pages, 1236 KiB

Open AccessArticle

Correlation and Agreement Between the SCORE2 and PREVENT 10-Year Atherosclerotic Cardiovascular Disease Risk Scores: Insights from Coronary Computed Tomography Angiography

by Mehmet Emre Ozpelit, Ayse Colak, Hatice Irem Uzumcu, Zeynep Kumral and Ebru Ozpelit

Diagnostics 2024, 14(23), 2625; https://doi.org/10.3390/diagnostics14232625 - 22 Nov 2024

Abstract

Background: We aimed to evaluate the correlation and agreement between the Systemic Coronary Risk Estimation 2 (SCORE2) and Predicting Risk of CVD EVENTs (PREVENT) 10-year ASCVD risk scores by incorporating computed tomographic (CT) data to assess differences between the scoring systems. Methods [...] Read more.

Background: We aimed to evaluate the correlation and agreement between the Systemic Coronary Risk Estimation 2 (SCORE2) and Predicting Risk of CVD EVENTs (PREVENT) 10-year ASCVD risk scores by incorporating computed tomographic (CT) data to assess differences between the scoring systems. Methods: The PREVENT risk score was calculated for 171 patients, while the SCORE2 and SCORE2 Older Persons (OP) risk scores were calculated for 113 patients. Coronary artery calcium (CAC) scores were calculated, and the grading of coronary artery disease (CAD) was assessed according to these scores. Results: According to the PREVENT risk category, 79 patients (46.2%) were in the low-risk category, 32 (18.7%) were in the borderline-risk category, and 51 (29.8%) were in the intermediate-risk category. In contrast, the SCORE2 systems placed 32 patients (28.3%) in the low- to moderate-risk categories. Only 9 patients (5.3%) were classified as being at high risk by PREVENT, while SCORE2 categorized 39 patients (34.5%) as being at high risk and 42 patients (37.2%) as being at very high risk. There was a strong correlation between the scores (r = 85, p < 0.001), with a Bland–Altman plot analysis showing a bias of −3.71 points and the limits of agreement ranging from −16.06 to 8.64. The total CAC score and CAD grading were significantly different across the PREVENT risk groups (p < 0.001 for all) but were similar across the SCORE2 groups (p = 0.3 and p = 0.051, respectively). Conclusions: There is a strong correlation and agreement between the two risk scores. However, SCORE2 tends to categorize more patients as high-risk than PREVENT does. Additionally, the PREVENT risk categories are more effective than SCORE2 in determining the likelihood of CAD based on CT results. Full article

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

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17 pages, 327 KiB

Open AccessArticle

The Relationship Between Dental Anxiety and Oral Health-Related Quality of Life in Patients with Periodontitis

by Nicole Padilla-Fonseca, Agatha Araya-Castillo, María Paula Arias-Campos, Ana Paula Solís-Rivera, Jeniffer Jiménez-Matarrita and Karol Ramírez

Diagnostics 2024, 14(23), 2624; https://doi.org/10.3390/diagnostics14232624 - 22 Nov 2024

Abstract

Objectives: This study aimed to (1) investigate whether dental anxiety (DA) and oral health-related quality of life (OHRQoL) differed between patients diagnosed with periodontitis and individuals with periodontal health, (2) examine associations and correlations between these patient-reported measures, and (3) analyze demographic and [...] Read more.

Objectives: This study aimed to (1) investigate whether dental anxiety (DA) and oral health-related quality of life (OHRQoL) differed between patients diagnosed with periodontitis and individuals with periodontal health, (2) examine associations and correlations between these patient-reported measures, and (3) analyze demographic and clinical parameters. Methods: Ninety-six patients diagnosed with periodontitis and age- and sex-matched periodontally healthy controls were included. Participants’ demographic characteristics, smoking status, current dental pain, dental pain during the last month, the Modified Corah’s Scale (MDAS), and the Oral Health Impact Profile (OHIP-14) were determined. Results: The mean age of participants was 48.51 years ± 11.41. Patients with periodontitis experienced higher pain in the last month compared to controls (p = 0.003). Patients with periodontitis exhibited significantly higher MDAS total and sub-scores (p < 0.001). Compared to controls, the periodontitis group indicated extreme DA (1.04% vs. 7.79%, p = 0.034). Patients with periodontitis feared having a foreign object in the mouth compared to controls (p = 0.004). The periodontitis group exhibited worse OHIP-14 global and sub-scores (all Ps < 0.001). Positive associations and correlations of MDAS total and sub-scores with OHIP-14 global and domain scores were found for the periodontitis group, but not for controls. Patients with periodontitis who reported “moderate and extreme anxiety” had poorer OHRQoL compared to controls (p = 0.001). The minimal importance difference for this finding indicates a large effect size and a moderate standardized response mean between groups. Conclusions: Patients with periodontitis had higher levels of DA and worse OHRQoL compared to controls. Our study highlights the importance of providing a comprehensive approach, including psychosocial well-being, when diagnosing and treating periodontal disease. Full article

(This article belongs to the Special Issue Challenges Related to the Oral Cavity, Head and Neck: From Diagnosis to Therapy)

11 pages, 35370 KiB

Open AccessCase Report

Rare Clinical Manifestation of Vasculitis

by Oana-Mădălina Manole, Mihai Ștefan Cristian Haba, Iulian-Theodor Matei and Viviana Onofrei

Diagnostics 2024, 14(23), 2623; https://doi.org/10.3390/diagnostics14232623 - 22 Nov 2024

Abstract

Background: Antineutrophil cytoplasm antibody (ANCA)-associated vasculitis usually affects small blood vessels and is characterized by the presence of circulating autoantibodies (c-ANCA or p-ANCA). The risk of cardiovascular events is threefold higher compared to general population, and cardiac manifestations include myocarditis, pericarditis, valvulitis, aortitis, [...] Read more.

Background: Antineutrophil cytoplasm antibody (ANCA)-associated vasculitis usually affects small blood vessels and is characterized by the presence of circulating autoantibodies (c-ANCA or p-ANCA). The risk of cardiovascular events is threefold higher compared to general population, and cardiac manifestations include myocarditis, pericarditis, valvulitis, aortitis, or coronary arteritis. Coronary involvement is very rare, but it is a potentially life-threatening manifestation. Methods: We present an atypical cardiac scenario of p-ANCA vasculitis. Results: A 68-year-old woman with known p-ANCA vasculitis and stage 5 chronic kidney disease (CKD) on hemodialysis presented with dizziness accompanied by low blood pressure and chest pain. Electrocardiogram on arrival showed slightly ST-T changes, with negative cardiac biomarkers and no abnormalities in cardiac regional wall motion. Five hours after presentation, the patient repeated chest pain, accompanied by a drop in blood pressure and junctional escape rhythm. The highly sensitive cardiac troponin I (hs-cTnI) was raised at 560 ng/L. Coronary angiography showed coronary arteries without significant stenosis. The provocative test with intracoronary ergonovine demonstrated coronary vasospasm of the anterior descending artery accompanied by chest pain, with resolution after intracoronary nitroglycerin. Under amlodipine, nitrate, acetylsalicylic acid, statin and corticosteroids the patient did not experience the recurrence of angina. Conclusions: This case illustrates coronary involvement, manifested as coronary spasm with favorable outcomes, in systemic vasculitis. The underlying mechanism is immune-mediated inflammation in vascular walls. Full article

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

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15 pages, 5007 KiB

Open AccessArticle

Technical Complications Associated with Embolic Protection Device During Carotid Artery Stenting: Incidence, Risk Factors, Clinical Implications, and Rescue Maneuvers

by Bo Kyu Kim, Byungjun Kim, Sung-Hye You, Inseon Ryoo and Hye Na Jung

Diagnostics 2024, 14(23), 2622; https://doi.org/10.3390/diagnostics14232622 - 21 Nov 2024

Abstract

Background/Objectives: This study aimed to evaluate the incidence, risk factors, clinical implications, and rescue maneuvers of technical complications related to embolic protection devices (EPDs) during carotid artery stenting (CAS). Materials and Methods: We retrospectively reviewed all patients who had undergone CAS with EPDs [...] Read more.

Background/Objectives: This study aimed to evaluate the incidence, risk factors, clinical implications, and rescue maneuvers of technical complications related to embolic protection devices (EPDs) during carotid artery stenting (CAS). Materials and Methods: We retrospectively reviewed all patients who had undergone CAS with EPDs between April 2018 and March 2024. The incidence and types of technical complication associated with EPDs were assessed. Clinical, angiographical, and procedural factors were analyzed to identify risk factors for the occurrence of EPD-related adverse events. Various rescue techniques for managing adverse events were investigated based on the procedure record. Results: Of the 158 enrolled patients, the rate of EPD-related technical complications was 23.4% (n = 37). Among them, complicated filter retrieval was the most common adverse event (n = 23, 14.6%). Older age, a higher degree of residual stenosis, and the type of the EPD were significant risk factors for complicated filter retrieval (p < 0.05). Although distal thrombus migration requiring thrombectomy was more frequent in patients with complicated filter removal (2.2% vs. 13.0%, p = 0.041), there was no significant increase in postprocedural thromboembolic and hemorrhagic complications. When complicated filter retrieval occurred, careful to-and-fro movement of the patients’ neck, such as rotation, or asking them to swallow was tried first in all 23 patients. When these attempts failed, manipulation of a curved-tip guiding catheter, the balloon bridge technique, and alternative use of a 5 Fr angiocatheter as a retrieval sheath were sequentially tried, and all filters were successfully retrieved. Conclusions: Complicated filter retrieval was the most common technical complication during CAS. Various rescue techniques for successful filter removal were effective for ensuring safety of CAS. Full article

(This article belongs to the Special Issue Advances in Cerebrovascular Imaging and Interventions)

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20 pages, 6486 KiB

Open AccessCase Report

Persistent Müllerian Duct Syndrome with Supernumerary Testicles Due to a Novel Homozygous Variant in the AMHR2 Gene and Literature Review

by Luminita Nicoleta Cima, Iustina Grosu, Isabela Magdalena Draghici, Augustina Cornelia Enculescu, Adela Chirita-Emandi, Nicoleta Andreescu, Maria Puiu, Carmen Gabriela Barbu and Simona Fica

Diagnostics 2024, 14(23), 2621; https://doi.org/10.3390/diagnostics14232621 - 21 Nov 2024

Abstract

Introduction: Persistent Müllerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) caused by mutations in the genes coding anti-Müllerian hormone (AMH) or the AMH receptor, characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise [...] Read more.

Introduction: Persistent Müllerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) caused by mutations in the genes coding anti-Müllerian hormone (AMH) or the AMH receptor, characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys. Testicular regression syndrome is common in PMDS, yet the association with supernumerary testis has been reported in only two patients where genetic testing was not performed. Method: Thus, we report an individual with this particular association caused by a previously unreported homozygous variant in the AMHR2 gene to enable future genotype–phenotype correlations in this rare disorder. In addition, a search of PMDS associated with congenital anomalies reported in the literature was performed to provide a comprehensive overview of this pathology. Results: We present the case of a 13-year-old boy with a history of bilateral cryptorchidism. Two attempts of right orchidopexy were performed at the age of 4 and 5 years. At that time, exploratory laparoscopy identified an intra-abdominal left testicle. In addition, a fibrous structure extending from the left intra-abdominal testicle to the deep inguinal ring (Müllerian duct remnants) and a medially located abdominal mass, bilaterally fixated to the parietal peritoneum (uterine remnant), were detected. The left testicular biopsy revealed immature prepubertal testicular tissue. The uterine remnant was dissected and removed and the left orchidopexy was performed. The karyotype was 46, XY without other numerical or structural chromosomal abnormalities. Reinterventions on the left testicle were performed at the age of 9 and 12 years when a testicular remnant was identified in the left inguinal canal and removed. Three months after left orchidectomy, ultrasound followed by abdominopelvic MRI identified a structure resembling a testis in the left inguinal area. Another surgical exploration was performed, and a mass located outside (lateral) the inguinal canal was found. A biopsy from the suspected mass was performed. The histopathologic examination showed characteristics of immature prepubertal testis. The patient was later referred to our clinic with the suspicion of DSD. Serum AMH and inhibin B were normal. Therefore, the diagnosis of PMDS was suspected. Genetic testing was performed using next-generation sequencing in a gene panel that included AMH and AMHR2 genes. A homozygous variant classified as likely pathogenic in the AMHR2 gene was identified but remains unreported in the literature (NC_000012.11:g.53823315T>C in exon 8 of the AMHR2 gene). Conclusions: A high degree of suspicion and awareness is needed to diagnose this condition in order to avoid iterative surgery. The coexistence of two extremely rare conditions (PMDS and supernumerary testes) has been reported previously in only two patients, yet the association could have a common pathophysiologic background. Our case, reporting a novel AMHR2 variant, highlights the importance of genetic testing in these individuals in order to elucidate a possible genotype–phenotype correlation. Full article

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

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13 pages, 2156 KiB

Open AccessSystematic Review

Impact of Resistance Training on Body Composition and Physical Function in Individuals with Down Syndrome: A Meta-Analysis

by Hou-Ting Kuo, Ting-Hsu Lee, Li-An Su, Li-Yun Wu, Ping-Yan Mao and Ciao-Ci Yang

Diagnostics 2024, 14(23), 2620; https://doi.org/10.3390/diagnostics14232620 - 21 Nov 2024

Abstract

Objectives: Down syndrome (DS) is associated with challenges like increased fat mass and reduced muscle tone. This study aims to analyze the impact of resistance training on improving muscle strength and physical function in individuals with DS. Methods: We conducted a comprehensive search [...] Read more.

Objectives: Down syndrome (DS) is associated with challenges like increased fat mass and reduced muscle tone. This study aims to analyze the impact of resistance training on improving muscle strength and physical function in individuals with DS. Methods: We conducted a comprehensive search of PubMed, Scopus, Google Scholar, Cochrane Library, and China National Knowledge Infrastructure for studies published up to August 2023. Standardized mean differences and 95% confidence intervals were used to evaluate the efficacy of resistance training. Results: Eight randomized controlled trials (RCTs), including 127 participants with DS, met the inclusion criteria. Resistance training significantly improved muscle strength in the knee extensors (SMD: 1.009, 95% CI: 0.505–1.513), knee flexors (SMD: 1.133, 95% CI: 0.106 to 2.16), and upper limbs (SMD: 0.748, 95% CI: 0.152–1.343). The SMD for upper limb function was 0.385 (95% CI: 0.004–0.765), showing a small improvement. For walking ability, the SMD was 0.259 (95% CI: −0.171–0.690), and for stair climbing ability, the SMD was 0.257 (95% CI: −0.189–0.703), both indicating no significant changes. Improvements in upper limb physical function were significant, but no notable improvements were seen in lower limb functions. Conclusions: Resistance training for more than four weeks enhances muscle strength in individuals with DS, with greater gains seen in younger participants. While improvements were noted in upper limb physical function, lower limb function remained largely unchanged. These findings suggest that resistance training is a valuable exercise for improving muscle strength and physical function in individuals with DS. Full article

(This article belongs to the Section Clinical Diagnosis and Prognosis)

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13 pages, 2424 KiB

Open AccessArticle

Comparison of Biomarkers Playing a Role in Pterygium Development in Pterygium and Recurrent Pterygium Tissues

by Özgür Eroğul and Serkan Şen

Diagnostics 2024, 14(23), 2619; https://doi.org/10.3390/diagnostics14232619 - 21 Nov 2024

Abstract

Background/Objectives: Pterygium is a nonneoplastic elastotic degeneration characterized by subepithelial growth. It manifests as an ocular lesion originating from the bulbar conjunctiva, extending to the corneal surface, and reaching the visual axis in some cases. Although the exact cause is unknown, prolonged exposure [...] Read more.

Background/Objectives: Pterygium is a nonneoplastic elastotic degeneration characterized by subepithelial growth. It manifests as an ocular lesion originating from the bulbar conjunctiva, extending to the corneal surface, and reaching the visual axis in some cases. Although the exact cause is unknown, prolonged exposure to ultraviolet radiation is considered the most significant contributing factor. Chronic irritation and actinic damage are likely responsible for the typical fibrovascular reactions observed in pterygium. Additionally, growth factors, cytokines, and matrix metalloproteinases play roles in the pathogenesis of pterygium. This study compared recurrent and primary pterygium cases at the molecular level to gain new insights into the etiology of pterygium. Methods: Total protein was extracted from surgical samples of patients with primary and recurrent pterygium, and the levels of transforming growth factor beta 1 (TGF-β1), interleukin-1 beta (IL-1β), interleukin-6 (IL-6), IL-8, and IL-10 were analyzed using the enzyme-linked immunosorbent assay technique. Target gene expression levels were analyzed using the ΔΔCt method after cDNA synthesis from isolated RNA, with normalization to GAPDH and quantification performed with SYBR Green PCR Master Mix. Results: Among the studied cytokines, IL-10 levels were higher in primary pterygium than in recurrent pterygium (722.0 ± 600.9/421.4 ± 266.8) (p = 0.0054). Other cytokines (IL-6, IL-8, IL-1β, and TGF-β1) were detected at similar levels in both primary and recurrent pterygium (p = 0.2986). Additionally, the TGF-β1 gene expression was found to be significantly upregulated in recurrent pterygium tissue compared to primary pterygium tissue (p = 0.034). Conclusions: This increase suggests that TGF-β1 may contribute to the recurrence mechanisms of pterygium through processes such as fibroblast activation and tissue remodeling. The higher levels of IL-10 in primary pterygium compared to recurrent pterygium indicate an enhanced early protective response aimed at limiting pterygium progression and controlling the inflammatory process. Full article

(This article belongs to the Special Issue Eye Diseases: Diagnosis and Management—2nd Edition)

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16 pages, 728 KiB

Open AccessReview

Identification of Pre-Heart Failure in Early Stages: The Role of Six Stages of Heart Failure

by Monika Jankajova, Ram B. Singh, Krasimira Hristova, Galal Elkilany, Ghizal Fatima, Jaipaul Singh and Jan Fedacko

Diagnostics 2024, 14(23), 2618; https://doi.org/10.3390/diagnostics14232618 - 21 Nov 2024

Abstract

Despite increased availability of effective drug therapy for treatment of heart failure (HF), the morbidity and mortality in chronic heart failure (CHF) are unacceptably high. Therefore, there is an urgent need to ascertain new imaging techniques to identify early sub-clinical forms of cardiac [...] Read more.

Despite increased availability of effective drug therapy for treatment of heart failure (HF), the morbidity and mortality in chronic heart failure (CHF) are unacceptably high. Therefore, there is an urgent need to ascertain new imaging techniques to identify early sub-clinical forms of cardiac dysfunctions, to guide early relevant treatment. It seems that all the behavioral risk factors—such as tobacco, alcoholism, Western-type diet, sedentary behavior and obesity, emotional disorders, and sleep disorder are associated with early cardiac dysfunction, which may be identified by speckle-tracking echocardiography (STE). Cardiac remodeling can also occur chronologically in association with biological risk factors of CHF, such as diabetes mellitus (DM), hypertension, cardiomyopathy, valvular heart disease, and coronary artery disease (CAD). In these conditions, twisting and untwisting of the heart, cardiac fibrosis, and hypertrophy can be identified early and accurately with 2-Dimentional (2D) and 3D echocardiography (2D echo and 3D echo) with tissue Doppler imaging (TDI), strain imaging via STE, and cardiac magnetic resonance imaging (CMR). Both 2D and 3D echo with STE are also useful in the identification of myocardial damage during chemotherapy and in the presence of risk factors. It is possible that global longitudinal systolic strain (GLS) obtained by STE may be an accurate marker for early identification of the severity of CAD in patients with non-ST segment elevation MI. Left ventricular ejection fraction (LVEF) is not the constant indicator of HF and it is normal in early cardiac dysfunction. In conclusion, this review suggests that GLS can be a useful early diagnostic marker of early or pre-cardiac dysfunction which may be treated by suitable drug therapy of HF along with the causes of HF and adhere to prevention strategies for recurrence. In addition, STE may be a superior clinical tool in the identification of cardiac dysfunction in its early stages compared to ejection fraction (EF) based on conventional echocardiography. Therefore, it is suggested that the chances of either stalling or reversing HF are far better for patients who are identified at an early stage of the disease. Full article

(This article belongs to the Special Issue Grand Challenges in the Diagnosis and Management of Cardiovascular and Cerebrovascular Diseases)

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