Journal Description
Diagnostics
Diagnostics
is an international, peer-reviewed, open access journal on medical diagnosis published semimonthly online by MDPI. The British Neuro-Oncology Society (BNOS), the International Society for Infectious Diseases in Obstetrics and Gynaecology (ISIDOG) and the Swiss Union of Laboratory Medicine (SULM) are affiliated with Diagnostics and their members receive a discount on the article processing charges.
- Open Access— free for readers, with article processing charges (APC) paid by authors or their institutions.
- High Visibility: indexed within Scopus, SCIE (Web of Science), PubMed, PMC, Embase, Inspec, CAPlus / SciFinder, and other databases.
- Journal Rank: JCR - Q1 (Medicine, General and Internal) / CiteScore - Q2 (Internal Medicine)
- Rapid Publication: manuscripts are peer-reviewed and a first decision is provided to authors approximately 20.5 days after submission; acceptance to publication is undertaken in 2.7 days (median values for papers published in this journal in the first half of 2024).
- Recognition of Reviewers: reviewers who provide timely, thorough peer-review reports receive vouchers entitling them to a discount on the APC of their next publication in any MDPI journal, in appreciation of the work done.
- Companion journal: LabMed.
Impact Factor:
3.0 (2023);
5-Year Impact Factor:
3.1 (2023)
Latest Articles
Cardioish: Lead-Based Feature Extraction for ECG Signals
Diagnostics 2024, 14(23), 2712; https://doi.org/10.3390/diagnostics14232712 (registering DOI) - 30 Nov 2024
Abstract
Background: Electrocardiography (ECG) signals are commonly used to detect cardiac disorders, with 12-lead ECGs being the standard method for acquiring these signals. The primary objective of this research is to propose a new feature engineering model that achieves both high classification accuracy and
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Background: Electrocardiography (ECG) signals are commonly used to detect cardiac disorders, with 12-lead ECGs being the standard method for acquiring these signals. The primary objective of this research is to propose a new feature engineering model that achieves both high classification accuracy and explainable results using ECG signals. To this end, a symbolic language, named Cardioish, has been introduced. Methods: In this research, two publicly available datasets were used: (i) a mental disorder classification dataset and (ii) a myocardial infarction (MI) dataset. These datasets contain ECG beats and include 4 and 11 classes, respectively. To obtain explainable results from these ECG signal datasets, a new explainable feature engineering (XFE) model has been proposed. The Cardioish-based XFE model consists of four main phases: (i) lead transformation and transition table feature extraction, (ii) iterative neighborhood component analysis (INCA) for feature selection, (iii) classification, and (iv) explainable results generation using the recommended Cardioish. In the feature extraction phase, the lead transformer converts ECG signals into lead indexes. To extract features from the transformed signals, a transition table-based feature extractor is applied, resulting in 144 features (12 × 12) from each ECG signal. In the feature selection phase, INCA is used to select the most informative features from the 144 generated, which are then classified using the k-nearest neighbors (kNN) classifier. The final phase is the explainable artificial intelligence (XAI) phase. In this phase, Cardioish symbols are created, forming a Cardioish sentence. By analyzing the extracted sentence, XAI results are obtained. Additionally, these results can be integrated into connectome theory for applications in cardiology. Results: The presented Cardioish-based XFE model achieved over 99% classification accuracy on both datasets. Moreover, the XAI results related to these disorders have been presented in this research. Conclusions: The recommended Cardioish-based XFE model achieved high classification performance for both datasets and provided explainable results. In this regard, our proposal paves a new way for ECG classification and interpretation.
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(This article belongs to the Special Issue Artificial Intelligence in Biomedical Diagnostics and Analysis 2024)
Open AccessArticle
Sex-Specific Differences in Peripheral Nerve Properties: A Comparative Analysis of Conduction Velocity and Cross-Sectional Area in Upper and Lower Limbs
by
Ayaka Nobue and Masaki Ishikawa
Diagnostics 2024, 14(23), 2711; https://doi.org/10.3390/diagnostics14232711 (registering DOI) - 30 Nov 2024
Abstract
Background/Objectives Peripheral nerve conduction velocity (NCV) and nerve cross-sectional area (nCSA) are crucial parameters in neurophysiological assessments, yet their sex-specific differences are not fully understood. This study investigated sex-based variations in NCV and nCSA between upper and lower limbs. Methods: Twenty participants (ten
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Background/Objectives Peripheral nerve conduction velocity (NCV) and nerve cross-sectional area (nCSA) are crucial parameters in neurophysiological assessments, yet their sex-specific differences are not fully understood. This study investigated sex-based variations in NCV and nCSA between upper and lower limbs. Methods: Twenty participants (ten males and ten females) were recruited for this study. The NCV and nCSA of the ulnar and tibial nerves were measured in both the upper and lower limbs. NCV was measured using supramaximal electric stimulation, and nCSA was assessed using peripheral nerve ultrasonography at three regions for each nerve. Supramaximal electric stimulations were applied superficially to the ulnar and tibial nerves at each measurement point. Action potentials were recorded from the abductor digiti minimi and soleus muscles for the ulnar and tibial nerves, respectively. Results: The ulnar nCSA of the upper limbs was significantly greater in males than in females (p < 0.05). However, ulnar NCV was significantly higher in females than in males (p < 0.05). In the lower limbs, no sex differences were observed in tibial NCV or nCSA. Conclusions: These findings reveal sex-specific differences in upper limb peripheral nerve characteristics that may have important implications for clinical assessments and treatment strategies. The contrasting patterns between upper and lower limbs suggest that both developmental and functional factors influence peripheral nerve properties.
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(This article belongs to the Special Issue Clinical Anatomy and Diagnosis of Peripheral Nervous System)
Open AccessArticle
A Hybrid Deep Learning Model with Data Augmentation to Improve Tumor Classification Using MRI Images
by
Eman M. G. Younis, Mahmoud N. Mahmoud, Abdullah M. Albarrak and Ibrahim A. Ibrahim
Diagnostics 2024, 14(23), 2710; https://doi.org/10.3390/diagnostics14232710 (registering DOI) - 30 Nov 2024
Abstract
Background: Cancer ranks second among the causes of mortality worldwide, following cardiovascular diseases. Brain cancer, in particular, has the lowest survival rate of any form of cancer. Brain tumors vary in their morphology, texture, and location, which determine their classification. The accurate diagnosis
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Background: Cancer ranks second among the causes of mortality worldwide, following cardiovascular diseases. Brain cancer, in particular, has the lowest survival rate of any form of cancer. Brain tumors vary in their morphology, texture, and location, which determine their classification. The accurate diagnosis of tumors enables physicians to select the optimal treatment strategies and potentially prolong patients’ lives. Researchers who have implemented deep learning models for the diagnosis of diseases in recent years have largely focused on deep neural network optimization to enhance their performance. This involves implementing models with the best performance and incorporating various network architectures by configuring their hyperparameters. Methods: This paper presents a novel hybrid approach for improved brain tumor classification by combining CNNs and EfficientNetV2B3 for feature extraction, followed by K-nearest neighbors (KNN) for classification, which has been described as one of the simplest machine learning algorithms based on supervised learning techniques. The KNN algorithm assumes similarities between new cases and available cases and assigns new cases to the category that most closely resembles the available categories. Results: To evaluate the recommended method’s efficacy, two widely known benchmark MRI datasets were utilized in the experiments. The initial dataset consisted of 3064 MRI images depicting meningiomas, gliomas, and pituitary tumors. Images from two classes, consisting of healthy brains and brain tumors, were included in the second dataset, which was obtained from Kaggle. Conclusions: In order to enhance the performance even further, this study concatenated the CNN and EfficientNetV2B3’s flattened outputs before feeding them into the KNN classifier. The proposed framework was run on these two different datasets and demonstrated outstanding performance, with accuracy of 99.51% and 99.8%, respectively.
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(This article belongs to the Special Issue Artificial Intelligence in Health Monitoring and Diagnosis: AI Meets Conventional Models)
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Open AccessArticle
Three Novel Pathogenic Variants in Unrelated Vietnamese Patients with Cardiomyopathy
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Tran Dac Dai, Nguyen Thi Kim Lien, Nguyen Van Tung, Nguyen Cong Huu, Phan Thao Nguyen, Do Anh Tien, Doan Thi Hoai Thu, Bui Quang Huy, Tran Thi Kim Oanh, Nguyen Thi Phuong Lien, Nguyen Thanh Hien, Nguyen Ngoc Lan, Le Tat Thanh, Nguyen Minh Duc and Nguyen Huy Hoang
Diagnostics 2024, 14(23), 2709; https://doi.org/10.3390/diagnostics14232709 (registering DOI) - 30 Nov 2024
Abstract
Background: Cardiomyopathy, including dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM), is a major cause of heart failure (HF) and a leading indication for heart transplantation. Of these patients, 20–50% have a genetic cause, so understanding the genetic basis of cardiomyopathy will provide
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Background: Cardiomyopathy, including dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM), is a major cause of heart failure (HF) and a leading indication for heart transplantation. Of these patients, 20–50% have a genetic cause, so understanding the genetic basis of cardiomyopathy will provide knowledge about the pathogenesis of the disease for diagnosis, treatment, prevention, and genetic counseling for families. Methods: This study collected nine patients from different Vietnamese families for genetic analysis at The Cardiovascular Center, E Hospital, Hanoi, Vietnam. The patients were diagnosed with cardiomyopathy based on clinical symptoms. Whole-exome sequencing (WES) was performed in the Vietnamese patients to identify variants associated with cardiomyopathy, and the Sanger sequencing method was used to validate the variants in the patients’ families. The influence of the variants was predicted using in silico analysis tools. Results: Nine heterozygous variants were detected as a cause of disease in the patients, three of which were novel variants, including c.284C>G, p.Pro95Arg in the MYL2 gene, c.2356A>G, p.Thr786Ala in the MYH7 gene, and c.1223T>A, p.Leu408Gln in the DES gene. Two other variants were pathogenic variants (c.602T>C, p.Ile201Thr in the MYH7 gene and c.1391G>C, p.Gly464Ala in the PTPN11 gene), and four were variants of uncertain significance in the ACTA2, ANK2, MYOZ2, and PRKAG2 genes. The results of the in silico prediction software showed that the identified variants were pathogenic and responsible for the patients’ DCM. Conclusions: Our results contribute to the understanding of cardiomyopathy pathogenesis and provide a basis for diagnosis, treatment, prevention, and genetic counseling.
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(This article belongs to the Section Pathology and Molecular Diagnostics)
Open AccessArticle
Minimum and Maximum Pattern-Based Self-Organized Feature Engineering: Fibromyalgia Detection Using Electrocardiogram Signals
by
Veysel Yusuf Cambay, Abdul Hafeez Baig, Emrah Aydemir, Turker Tuncer and Sengul Dogan
Diagnostics 2024, 14(23), 2708; https://doi.org/10.3390/diagnostics14232708 (registering DOI) - 30 Nov 2024
Abstract
Background: The primary objective of this research is to propose a new, simple, and effective feature extraction function and to investigate its classification ability using electrocardiogram (ECG) signals. Methods: In this research, we present a new and simple feature extraction function named the
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Background: The primary objective of this research is to propose a new, simple, and effective feature extraction function and to investigate its classification ability using electrocardiogram (ECG) signals. Methods: In this research, we present a new and simple feature extraction function named the minimum and maximum pattern (MinMaxPat). In the proposed MinMaxPat, the signal is divided into overlapping blocks with a length of 16, and the indexes of the minimum and maximum values are identified. Then, using the computed indices, a feature map is calculated in base 16, and the histogram of the generated map is extracted to obtain the feature vector. The length of the generated feature vector is 256. To evaluate the classification ability of this feature extraction function, we present a new feature engineering model with three main phases: (i) feature extraction using MinMaxPat, (ii) cumulative weight-based iterative neighborhood component analysis (CWINCA)-based feature selection, and (iii) classification using a t-algorithm-based k-nearest neighbors (tkNN) classifier. Results: To obtain results, we applied the proposed MinMaxPat-based feature engineering model to a publicly available ECG fibromyalgia dataset. Using this dataset, three cases were analyzed, and the proposed MinMaxPat-based model achieved over 80% classification accuracy with both leave-one-record-out (LORO) cross-validation (CV) and 10-fold CV. Conclusions: These results clearly demonstrate that this simple model achieved high classification performance. Therefore, this model is surprisingly effective for ECG signal classification.
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(This article belongs to the Special Issue Artificial Intelligence Advances for Medical Computer-Aided Diagnosis—2nd Edition)
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The Influence of Vowels on the Identification of Spoken Disyllabic Words in the Malayalam Language for Individuals with Hearing Loss
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Vijaya Kumar Narne, Dhanya Mohan, M. Badariya, Sruthi Das Avileri, Saransh Jain, Sunil Kumar Ravi, Yerraguntla Krishna, Reesha Oovattil Hussain and Abdulaziz Almudhi
Diagnostics 2024, 14(23), 2707; https://doi.org/10.3390/diagnostics14232707 (registering DOI) - 30 Nov 2024
Abstract
Background/Objectives: The present study investigates the reasons for better recognition of disyllabic words in Malayalam among individuals with hearing loss. This research was conducted in three experiments. Experiment 1 measured the psychometric properties (slope, intercept, and maximum scores) of disyllabic wordlists. Experiment 2
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Background/Objectives: The present study investigates the reasons for better recognition of disyllabic words in Malayalam among individuals with hearing loss. This research was conducted in three experiments. Experiment 1 measured the psychometric properties (slope, intercept, and maximum scores) of disyllabic wordlists. Experiment 2 examined PBmax scores across varying degrees of sensorineural hearing loss (SNHL) and compared these findings with studies in other Indian and global languages. Experiment 3 analyzed the recognition performance of different vowel combinations across varying degrees of hearing loss. Methods: Experiment 1: Psychometric functions for disyllabic word recognition were derived from 45 individuals with normal hearing. Word recognition was tested in quiet at nine hearing levels ranging from −10 to +40 dB HL. Experiment 2: 1000 participants with SNHL were categorized by hearing loss severity (mild, moderate, moderately severe, severe, and profound). Word recognition scores, including PBmax, were analyzed and compared across severity levels. Experiment 3: Percent error scores for 17 vowel combinations were assessed in 37 participants with SNHL. Ten disyllabic words represented each combination. Results: Disyllabic wordlists showed significantly higher word recognition scores than monosyllabic lists across all degrees of hearing loss. Individuals with mild-to-moderately severe SNHL achieved higher PBmax scores, with performance declining at severe- and profound-loss levels. The higher recognition of disyllabic words was attributed to contextual cues and low-frequency vowel-based information, particularly benefiting those with residual low-frequency hearing. Error analysis highlighted the influence of specific vowel combinations on word recognition performance. Conclusions: Disyllabic words are easier to recognize than monosyllabic words for individuals with SNHL due to their rich contextual and low-frequency energy cues. Disyllabic wordlists sustain higher recognition scores up to moderately severe hearing loss but show a marked decline with more severe losses. The phonemic balance of wordlists and vowel combinations significantly influences word recognition, emphasizing the importance of these factors in developing wordlists for clinical use.
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(This article belongs to the Special Issue Hearing Loss and Deafness: Identification, Management, Prevention, and Rehabilitation)
Open AccessArticle
Validation of Artificial Intelligence Computer-Aided Detection on Gastric Neoplasm in Upper Gastrointestinal Endoscopy
by
Hannah Lee, Jun-Won Chung, Sung-Cheol Yun, Sung Woo Jung, Yeong Jun Yoon, Ji Hee Kim, Boram Cha, Mohd Azzam Kayasseh and Kyoung Oh Kim
Diagnostics 2024, 14(23), 2706; https://doi.org/10.3390/diagnostics14232706 (registering DOI) - 30 Nov 2024
Abstract
Background/Objectives: Gastric cancer ranks fifth for incidence and fourth in the leading causes of mortality worldwide. In this study, we aimed to validate previously developed artificial intelligence (AI) computer-aided detection (CADe) algorithm, called ALPHAON® in detecting gastric neoplasm. Methods: We used the
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Background/Objectives: Gastric cancer ranks fifth for incidence and fourth in the leading causes of mortality worldwide. In this study, we aimed to validate previously developed artificial intelligence (AI) computer-aided detection (CADe) algorithm, called ALPHAON® in detecting gastric neoplasm. Methods: We used the retrospective data of 500 still images, including 5 benign gastric ulcers, 95 with gastric cancer, and 400 normal images. Thereby we validated the CADe algorithm measuring accuracy, sensitivity, and specificity with the result of receiver operating characteristic curves (ROC) and area under curve (AUC) in addition to comparing the diagnostic performance status of four expert endoscopists, four trainees, and four beginners from two university-affiliated hospitals with CADe algorithm. After a washing-out period of over 2 weeks, endoscopists performed gastric detection on the same dataset of the 500 endoscopic images again marked by ALPHAON®. Results: The CADe algorithm presented high validity in detecting gastric neoplasm with accuracy (0.88, 95% CI: 0.85 to 0.91), sensitivity (0.93, 95% CI: 0.88 to 0.98), specificity (0.87, 95% CI: 0.84 to 0.90), and AUC (0.962). After a washing-out period of over 2 weeks, overall validity improved in the trainee and beginner groups with the assistance of ALPHAON®. Significant improvement was present, especially in the beginner group (accuracy 0.94 (0.93 to 0.96) p < 0.001, sensitivity 0.87 (0.82 to 0.92) p < 0.001, specificity 0.96 (0.95 to 0.97) p < 0.001). Conclusions: The high validation performance state of the CADe algorithm system was verified. Also, ALPHAON® has demonstrated its potential to serve as an endoscopic educator for beginners improving and making progress in sensitivity and specificity.
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(This article belongs to the Special Issue Application of Artificial Intelligence in Gastrointestinal Disease)
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Diagnostic Performance of Clinical and Routine Laboratory Data in Acute Mesenteric Arterial Occlusion—An International Multicenter Study
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Yasmin Soltanzadeh-Naderi, Annika Reintam Blaser, Martin Björck, Alexandre Nuzzo, Joel Starkopf, Alastair Forbes, Marko Murruste, Kadri Tamme, Peep Talving, Anna-Liisa Voomets, Merli Koitmäe, Miklosh Bala, Zsolt Bodnar, Dumitru Casian, Zaza Demetrashvili, Mario D’Oria, Virginia Dúran Muñoz-Cruzado, Hanne Fuglseth, Moran Hellerman Itzhaki, Benjamin Hess, Karri Kase, Kristoffer Lein, Matthias Lindner, Cecilia I. Loudet, Damian J. Mole, Sten Saar, Maximilian Scheiterle, Kenneth Voon, Jonas Tverring and Stefan Acostaadd
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Diagnostics 2024, 14(23), 2705; https://doi.org/10.3390/diagnostics14232705 (registering DOI) - 30 Nov 2024
Abstract
Background: There are no clinical or laboratory markers that can diagnose acute mesenteric ischemia (AMI) accurately. This study aimed to find differences in clinical and laboratory markers between arterial occlusive AMI and other acute abdominal diseases where AMI was initially suspected. Methods: This
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Background: There are no clinical or laboratory markers that can diagnose acute mesenteric ischemia (AMI) accurately. This study aimed to find differences in clinical and laboratory markers between arterial occlusive AMI and other acute abdominal diseases where AMI was initially suspected. Methods: This was a post hoc study of an international prospective multicenter study where data on patients with suspected AMI were collected. Independent factors associated with arterial occlusive AMI were evaluated in a multivariable logistic regression analysis. Results: The number of patients with arterial occlusive AMI was 231, consisting of thrombotic (n = 104), embolic (n = 61), and indeterminate (n = 66) occlusions. The non-AMI group included 287 patients, of whom 128 had strangulated bowel obstruction. Current smoking (odds ratio [OR] 2.56, 95% confidence interval [CI] 1.31–5.03), hypertension (OR 2.08, 95% CI 1.09–3.97), bowel emptying (OR 3.25, 95% CI 1.59–6.63), and leukocytosis (OR 1.54, 95% CI 1.14–2.08) at admission were independently associated with arterial occlusive AMI compared to the non-AMI group. Conclusions: This study found clinical and laboratory data to be associated with arterial occlusive AMI in patients with suspicion of AMI, which can possibly be of value in screening for arterial occlusive AMI at the emergency department. Further studies are needed to find more accurate diagnostic markers.
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(This article belongs to the Collection Editorial Board Members' Collection Series: Diagnostic Approaches to Gastrointestinal and Pancreatic Diseases)
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Significance of Detecting Serum Antibodies to Outer Surface Protein A of Lyme Disease Borreliae in PCR-Confirmed Blood Infections
by
Jyotsna S. Shah and Ranjan Ramasamy
Diagnostics 2024, 14(23), 2704; https://doi.org/10.3390/diagnostics14232704 (registering DOI) - 30 Nov 2024
Abstract
Background/Objectives: Lyme disease is caused by some species of tick-borne bacteria of the genus Borrelia, termed Lyme disease Borreliae (LDB). Borrelia burgdorferi is the LDB species principally responsible for Lyme disease in the US. The outer surface protein A (OspA) of
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Background/Objectives: Lyme disease is caused by some species of tick-borne bacteria of the genus Borrelia, termed Lyme disease Borreliae (LDB). Borrelia burgdorferi is the LDB species principally responsible for Lyme disease in the US. The outer surface protein A (OspA) of LDB attaches the bacteria to the gut of Ixodes tick vectors. OspA expression is downregulated when B. burgdorferi is transmitted from ticks to mammalian hosts. Vaccination with OspA elicits antibody-mediated protective immunity in animals and humans against LDB infection. The possible presence of serum antibodies against OspA in persons with PCR-confirmed LDB infections in blood was investigated in this study. Methods: Ninety-one archived sera from patients with LDB infections in blood demonstrated by a sensitive PCR assay were tested for reactivity with OspA from multiple LDB species in line immunoblots. Results: In total, 14 of the 91 sera (15.4%) had either IgG or IgM antibodies to OspA from one or more LDB species. Conclusions: The results show for the first time that serum antibodies to OspA are formed when LDB are present in human blood. However, the factors that governed the expression of OspA by LDB in patients could not be ascertained. It will be useful to determine whether the observed levels of serum antibodies to OspA in infected persons can protect against subsequent tick-borne infection and whether OspA used in conjunction with other LDB antigens can improve the serological diagnosis of Lyme disease.
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(This article belongs to the Special Issue Editorial Board Members' Collection Series: Molecular Diagnostics of Infectious Diseases)
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An Evaluation of the Relationship Between the Mesiobuccal Canal Configuration, the Interorifice Distance, and the Root Lengths of the Permanent Maxillary First Molars with Cone Beam Computed Tomography
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Mehmet Ozgur Ozemre, Hazal Karslıoglu and Kıvanc Kamburoglu
Diagnostics 2024, 14(23), 2703; https://doi.org/10.3390/diagnostics14232703 (registering DOI) - 30 Nov 2024
Abstract
This study aimed to investigate the relationship between the mesiobuccal root canal configuration (MB RCC), the interorifice distance (IOD) and the corresponding root and other root lengths of the permanent maxillary first molars. Cone beam computed tomography (CBCT) images were acquired between 2020
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This study aimed to investigate the relationship between the mesiobuccal root canal configuration (MB RCC), the interorifice distance (IOD) and the corresponding root and other root lengths of the permanent maxillary first molars. Cone beam computed tomography (CBCT) images were acquired between 2020 and 2023 for different purposes unrelated to this study. Overall, 1550 CBCT images were retrospectively evaluated. A dentomaxillofacial radiologist with 15 years of experience evaluated the CBCT images and performed the measurements. According to the MB RCC, there was no statistically significant difference between the Vertucci type II and Vertucci type IV groups in terms of the mean age and sex distribution (p = 0.694 and p = 0.273). There was no statistically significant difference in the IOD between the MB RCC groups (p = 0.755). Moreover, according to the MB RCC, there was no statistically significant difference between the Vertucci type II and Vertucci type IV groups in terms of the mesiobuccal, distobuccal, palatinal, and mean root lengths (p > 0.05). In conclusion, there was no association between the IOD and the type of RCC in the maxillary first molars. New studies conducted by collecting data from different centers to explore the different morphological features of maxillary first molars and detect their anatomical differences will provide more reliable and accurate results.
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(This article belongs to the Special Issue Applications of Dentomaxillofacial Diagnostic Imaging in Different Specialties)
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Longitudinal Study of Patients with Connective Tissue Disease–Interstitial Lung Disease and Response to Mycophenolate Mofetil and Rituximab
by
Yan Li, Sehreen Mumtaz, Hassan Z. Baig, Isabel Mira-Avendano, Benjamin Wang, Carlos A. Rojas, Justin T. Stowell, Elizabeth R. Lesser, Shalmali R. Borkar, Vikas Majithia and Andy Abril
Diagnostics 2024, 14(23), 2702; https://doi.org/10.3390/diagnostics14232702 (registering DOI) - 30 Nov 2024
Abstract
Background/Objective: To investigate the effect of mycophenolate mofetil (MMF) and rituximab (RTX) on pulmonary function test (PFT) results in a mixed cohort of patients with connective tissue disease-associated interstitial lung disease (CTD-ILD), longitudinally followed up for 1 year in a single academic center.
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Background/Objective: To investigate the effect of mycophenolate mofetil (MMF) and rituximab (RTX) on pulmonary function test (PFT) results in a mixed cohort of patients with connective tissue disease-associated interstitial lung disease (CTD-ILD), longitudinally followed up for 1 year in a single academic center. Methods: Patients with CTD-ILD were identified in electronic medical records from 1 January 2009 to 30 April 2019. Prescribed MMF and RTX doses, dosage changes, and therapy plans were analyzed individually with improvement in PFT outcomes determined using multivariable linear regression models during 12-month follow-up. Results: Forty-seven patients with CTD-ILD, treated with MMF, RTX, or both, were included. Patients on combined MMF and RTX had worse PFT outcomes at baseline compared with patients on monotherapy. Substantial improvement was observed among all PFT outcomes from baseline to 12 months, regardless of medication dosage or therapy plans. The diffusing capacity of the lungs for carbon monoxide (DLCO) worsened by an average of 7.21 mL/(min*mmHg) (95% CI, 4.08–10.33; p < 0.001) among patients on RTX compared to combined therapy. Patients on higher doses of MMF at baseline experienced an average increase of 0.93 (95% CI, 0.04–1.82) units in DLCO from baseline to 6 months (p = 0.04) and a 2.79% (95% CI, 0.61–4.97%) increase in DLCO from 6 to 12 months (p = 0.02) within patients on concurrent RTX at 6-month follow-up. Conclusions: The treatment of CTD-ILD with MMF and/or RTX was associated with overall improvement in PFT outcomes. Combined therapy resulted in significant improvements in DLCO compared with monotherapy. Higher doses of MMF also provided greater improvements in DLCO.
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(This article belongs to the Special Issue Current Perspectives and Gaps in the Diagnosis and Management of Rheumatic Diseases)
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Image Quality Assessment and Reliability Analysis of Artificial Intelligence-Based Tumor Classification of Stimulated Raman Histology of Tumor Biobank Samples
by
Anna-Katharina Meißner, Tobias Blau, David Reinecke, Gina Fürtjes, Lili Leyer, Nina Müller, Niklas von Spreckelsen, Thomas Stehle, Abdulkader Al Shugri, Reinhard Büttner, Roland Goldbrunner, Marco Timmer and Volker Neuschmelting
Diagnostics 2024, 14(23), 2701; https://doi.org/10.3390/diagnostics14232701 (registering DOI) - 30 Nov 2024
Abstract
Background: Stimulated Raman histology (SRH) is a label-free optical imaging method for rapid intraoperative analysis of fresh tissue samples. Analysis of SRH images using Convolutional Neural Networks (CNN) has shown promising results for predicting the main histopathological classes of neurooncological tumors. Due to
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Background: Stimulated Raman histology (SRH) is a label-free optical imaging method for rapid intraoperative analysis of fresh tissue samples. Analysis of SRH images using Convolutional Neural Networks (CNN) has shown promising results for predicting the main histopathological classes of neurooncological tumors. Due to the relatively low number of rare tumor representations in CNN training datasets, a valid prediction of rarer entities remains limited. To develop new reliable analysis tools, larger datasets and greater tumor variety are crucial. One way to accomplish this is through research biobanks storing frozen tumor tissue samples. However, there is currently no data available regarding the pertinency of previously frozen tissue samples for SRH analysis. The aim of this study was to assess image quality and perform a comparative reliability analysis of artificial intelligence-based tumor classification using SRH in fresh and frozen tissue samples. Methods: In a monocentric prospective study, tissue samples from 25 patients undergoing brain tumor resection were obtained. SRH was acquired in fresh and defrosted samples of the same specimen after varying storage durations at −80 °C. Image quality was rated by an experienced neuropathologist, and prediction of histopathological diagnosis was performed using two established CNNs. Results: The image quality of SRH in fresh and defrosted tissue samples was high, with a mean image quality score of 1.96 (range 1–5) for both groups. CNN analysis showed high internal consistency for histo-(Cα 0.95) and molecular (Cα 0.83) pathological tumor classification. The results were confirmed using a dataset with samples from the local tumor biobank (Cα 0.91 and 0.53). Conclusions: Our results showed that SRH appears comparably reliable in fresh and frozen tissue samples, enabling the integration of tumor biobank specimens to potentially improve the diagnostic range and reliability of CNN prediction tools.
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(This article belongs to the Special Issue Artificial Intelligence in Pathological Image Analysis—2nd Edition)
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Assessing the Agreement Between Diffusion Tension Imaging (DTI) and T2-Weighted MRI Sequence for Biometry of the Fetal Corpus Callosum
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Liel N. Cohn, Shai Bookstein, Tamar Laytman Klein, Nadia Mordenfeld Kozlovsky, Tomer Ziv-Baran, Arnaldo Mayer and Eldad Katorza
Diagnostics 2024, 14(23), 2700; https://doi.org/10.3390/diagnostics14232700 (registering DOI) - 29 Nov 2024
Abstract
Background/Objectives: Little is known about the advantages of Diffusion Tensor Imaging (DTI) when evaluating the fetal corpus callosum (CC), a sensitive indicator for normal brain development. This study evaluates the contribution of DTI compared to T2-weighted imaging to assess fetal CC biometry. Methods:
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Background/Objectives: Little is known about the advantages of Diffusion Tensor Imaging (DTI) when evaluating the fetal corpus callosum (CC), a sensitive indicator for normal brain development. This study evaluates the contribution of DTI compared to T2-weighted imaging to assess fetal CC biometry. Methods: Data from the fetal MRI exams of singleton pregnancies between July 2017 and 2019 were retrospectively analyzed. Mid-sagittal sections were used to measure the CC biometry, and inter- and intra-observer agreements were assessed using the interclass correlation coefficient (ICC), targeting an ICC above 0.85. Results: The results from 100 patients (mean gestational age, 32.24 weeks) indicated excellent inter-observer reliability for DTI (ICC = 0.904, 95% CI = 0.815–0.952) and moderate agreement for T2-weighted imaging (ICC = 0.719, 95% CI = 0.556–0.842). Intra-observer assessments showed excellent reliability for both DTI and T2-weighted imaging (ICC = 0.967, 95% CI = 0.933–0.984 and ICC = 0.942, 95% CI = 0.884–0.971, respectively). However, a comparison between DTI and T2-weighted images for CC biometry showed poor agreement (ICC = 0.290, 95% CI = 0.071–0.476). Conclusions: In conclusion, the study highlights a lack of agreement between DTI and T2-weighted imaging in fetal CC biometry, suggesting the need for further research to understand this discrepancy and the role of DTI in fetal health.
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(This article belongs to the Special Issue Advances in Fetal Imaging)
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Open AccessCase Report
Synchronous Primary Metastatic Infra-Mammary Accessory Breast Cancer and Ipsilateral Breast Cancer: An Extremely Rare Case Report
by
Marius Preda, Nilima Rajpal Kundnani, Roxana Buzas, Sorin Dema, Adrian Carabineanu, Codruta Dana Miclaus, Razvan Ilina, Octavian Marius Cretu and Alexandru Blidisel
Diagnostics 2024, 14(23), 2699; https://doi.org/10.3390/diagnostics14232699 (registering DOI) - 29 Nov 2024
Abstract
Accessory breast cancer cases are rarely reported in the literature. Of the reported cases, the predominantly available ones are those localized in the axillary region. We present here a very rare case of metastatic accessory breast cancer. It was located in the infra-mammary
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Accessory breast cancer cases are rarely reported in the literature. Of the reported cases, the predominantly available ones are those localized in the axillary region. We present here a very rare case of metastatic accessory breast cancer. It was located in the infra-mammary region (IMR). IMR accessory breast cancer is a rare form of breast cancer. Although ectopic nipples are occasionally found in the IMR, because of the lack of ductal tissue malignant changes, they are rare. In our case, the primary tumor was localized in the congenital accessory breast tissue (ABT). It was recognized as invasive lobular accessory breast cancer cT3N1M0 with a second NST carcinoma, cT2N0M0, Stage IIA, in the ipsilateral breast. A multi-modal approach was applied. Adjuvant chemotherapy was carried out with epirubicin, cyclophosphamide, and paclitaxel, with post-chemotherapy ultrasound followed by right radical mastectomy. Adjuvant radiotherapy was given to our patient in the form of 25 fractions of 50 GY for 25 days, followed by hormonal treatment with Letrozole, 2.5 mg/day, to be continued for 5 years. In conclusion, our case demonstrates that since it is rare to find accessory breast cancer in the infra-mammary region, early identification and management with a multi-modal approach can lead to a successful patient outcome.
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(This article belongs to the Special Issue Biomarkers, Pathology and Diagnosis of Breast Cancer)
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Open AccessSystematic Review
Schizophrenia Detection and Classification: A Systematic Review of the Last Decade
by
Arghyasree Saha, Seungmin Park, Zong Woo Geem and Pawan Kumar Singh
Diagnostics 2024, 14(23), 2698; https://doi.org/10.3390/diagnostics14232698 (registering DOI) - 29 Nov 2024
Abstract
Background/Objectives: Artificial Intelligence (AI) in healthcare employs advanced algorithms to analyze complex and large-scale datasets, mimicking aspects of human cognition. By automating decision-making processes based on predefined thresholds, AI enhances the accuracy and reliability of healthcare data analysis, reducing the need for human
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Background/Objectives: Artificial Intelligence (AI) in healthcare employs advanced algorithms to analyze complex and large-scale datasets, mimicking aspects of human cognition. By automating decision-making processes based on predefined thresholds, AI enhances the accuracy and reliability of healthcare data analysis, reducing the need for human intervention. Schizophrenia (SZ), a chronic mental health disorder affecting millions globally, is characterized by symptoms such as auditory hallucinations, paranoia, and disruptions in thought, behavior, and perception. The SZ symptoms can significantly impair daily functioning, underscoring the need for advanced diagnostic tools. Methods: This systematic review has been conducted following the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) 2020 guidelines and examines peer-reviewed studies from the last decade (2015–2024) on AI applications in SZ detection as well as classification. The review protocol has been registered in the International Prospective Register of Systematic Reviews (PROSPERO) under registration number: CRD42024612364. Research has been sourced from multiple databases and screened using predefined inclusion criteria. The review evaluates the use of both Machine Learning (ML) and Deep Learning (DL) methods across multiple modalities, including Electroencephalography(EEG), Structural Magnetic Resonance Imaging (sMRI), and Functional Magnetic Resonance Imaging (fMRI). The key aspects reviewed include datasets, preprocessing techniques, and AI models. Results: The review identifies significant advancements in AI methods for SZ diagnosis, particularly in the efficacy of ML and DL models for feature extraction, classification, and multi-modal data integration. It highlights state-of-the-art AI techniques and synthesizes insights into their potential to improve diagnostic outcomes. Additionally, the analysis underscores common challenges, including dataset limitations, variability in preprocessing approaches, and the need for more interpretable models. Conclusions: This study provides a comprehensive evaluation of AI-based methods in SZ prognosis, emphasizing the strengths and limitations of current approaches. By identifying unresolved gaps, it offers valuable directions for future research in the application of AI for SZ detection and diagnosis.
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(This article belongs to the Special Issue The Future of Diagnostics: Exploring the Role of Artificial Intelligence in Medicine)
Open AccessArticle
Ultrasound Imaging of the Superficial and Deep Fasciae Thickness of Upper Limbs in Lymphedema Patients Versus Healthy Subjects
by
Carmelo Pirri, Nina Pirri, Chiara Ferraretto, Lara Bonaldo, Raffaele De Caro, Stefano Masiero and Carla Stecco
Diagnostics 2024, 14(23), 2697; https://doi.org/10.3390/diagnostics14232697 (registering DOI) - 29 Nov 2024
Abstract
Background/Objectives: Lymphedema, a common source of disability among oncology patients, necessitates continuous targeted rehabilitation. Recent studies have revealed the role of connective tissue in this pathology; however, despite existing research on ultrasound (US) use in lymphedema, no studies have specifically addressed the
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Background/Objectives: Lymphedema, a common source of disability among oncology patients, necessitates continuous targeted rehabilitation. Recent studies have revealed the role of connective tissue in this pathology; however, despite existing research on ultrasound (US) use in lymphedema, no studies have specifically addressed the use of ultrasound to assess fasciae in patients with lymphedema. This study aims to provide a more objective characterization of typical US alterations in these patients by quantifying the thickness of superficial and deep fasciae and comparing them with those of healthy volunteers. Methods: A cross-sectional study was performed using US imaging to measure the thickness of superficial and deep fascia in different regions and levels of the arm and forearm in a sample of 50 subjects: 25 chronic lymphedema patients and 25 healthy participants. Results: No significant difference in fascial thickness was observed between affected and unaffected upper limbs, but patients had notably thinner superficial fascia and deep fascia compared with healthy volunteers. The findings for superficial and deep fascia revealed statistically significant differences (p < 0.0001) in all regions and levels. Conclusions: This study demonstrates the effectiveness of US imaging as a non-invasive tool for detecting subtle fascial changes in chronic lymphedema patients, revealing thinner fasciae compared with those in healthy volunteers. These findings suggest a potential anatomical predisposition to lymphedema, highlighting the importance of incorporating detailed US assessments in diagnosis and management to improve early intervention and patient outcomes. Future studies could, therefore, investigate whether preventive fascia assessment might improve the early identification of individuals at risk.
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(This article belongs to the Special Issue Advances in Ultrasound Imaging for Musculoskeletal Diseases)
Open AccessArticle
Classifying Dry Eye Disease Patients from Healthy Controls Using Machine Learning and Metabolomics Data
by
Sajad Amouei Sheshkal, Morten Gundersen, Michael Alexander Riegler, Øygunn Aass Utheim, Kjell Gunnar Gundersen, Helge Rootwelt, Katja Benedikte Prestø Elgstøen and Hugo Lewi Hammer
Diagnostics 2024, 14(23), 2696; https://doi.org/10.3390/diagnostics14232696 - 29 Nov 2024
Abstract
Background: Dry eye disease is a common disorder of the ocular surface, leading patients to seek eye care. Clinical signs and symptoms are currently used to diagnose dry eye disease. Metabolomics, a method for analyzing biological systems, has been found helpful in identifying
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Background: Dry eye disease is a common disorder of the ocular surface, leading patients to seek eye care. Clinical signs and symptoms are currently used to diagnose dry eye disease. Metabolomics, a method for analyzing biological systems, has been found helpful in identifying distinct metabolites in patients and in detecting metabolic profiles that may indicate dry eye disease at early stages. In this study, we explored the use of machine learning and metabolomics data to identify cataract patients who suffer from dry eye disease, a topic that, to our knowledge, has not been previously explored. As there is no one-size-fits-all machine learning model for metabolomics data, choosing the most suitable model can significantly affect the quality of predictions and subsequent metabolomics analyses. Methods: To address this challenge, we conducted a comparative analysis of eight machine learning models on two metabolomics data sets from cataract patients with and without dry eye disease. The models were evaluated and optimized using nested k-fold cross-validation. To assess the performance of these models, we selected a set of suitable evaluation metrics tailored to the data set’s challenges. Results: The logistic regression model overall performed the best, achieving the highest area under the curve score of , balanced accuracy of , Matthew’s correlation coefficient of , an F1-score of , and a specificity of . Additionally, following the logistic regression, the XGBoost and Random Forest models also demonstrated good performance. Conclusions: The results show that the logistic regression model with L2 regularization can outperform more complex models on an imbalanced data set with a small sample size and a high number of features, while also avoiding overfitting and delivering consistent performance across cross-validation folds. Additionally, the results demonstrate that it is possible to identify dry eye in cataract patients from tear film metabolomics data using machine learning models.
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(This article belongs to the Section Machine Learning and Artificial Intelligence in Diagnostics)
Open AccessArticle
Non-Invasive and Quantitative Evaluation for Disuse Muscle Atrophy Caused by Immobilization After Limb Fracture Based on Surface Electromyography Analysis
by
Lvgang Shi, Yuyin Hong, Shun Zhang, Hao Jin, Shengming Wang and Gang Feng
Diagnostics 2024, 14(23), 2695; https://doi.org/10.3390/diagnostics14232695 (registering DOI) - 29 Nov 2024
Abstract
Background: The clinical evaluation for disuse muscle atrophy usually depends on qualitative rating indicators with subjective judgments of doctors and some invasive measurement methods such as needle electromyography. Surface electromyography, as a non-invasive method, has been widely used in the detection of muscular
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Background: The clinical evaluation for disuse muscle atrophy usually depends on qualitative rating indicators with subjective judgments of doctors and some invasive measurement methods such as needle electromyography. Surface electromyography, as a non-invasive method, has been widely used in the detection of muscular and neurological diseases in recent years. In this paper, we explore how to evaluate disuse muscle atrophy based on surface electromyography; Methods: Firstly, we conducted rat experiments using hind-limb suspension to create a model of disuse muscle atrophy. Five groups of rats were suspended for 0, 3, 7, 14, and 21 days, respectively. We induced leg electromyography of rats through electrical stimulation and used fluorescence staining to obtain the fiber-type composition of rats’ leg muscles. We obtained the best-fitting frequency bands of power spectrum density of surface electromyography for type I and type II fibers in rats’ leg muscles by changing the frequency band boundaries. Secondly, we conducted tests on the human body and collected the electromyography of the atrophied muscles of the subjects over a period of 21 days. The changes in muscle fiber composition were evaluated using the frequency bands of power spectrum density obtained from rat experiments. The method was to evaluate the changes in type I fibers by the changes in the area of the best-fitting frequency band of type I fibers and to evaluate the changes in type II fibers by the changes in the area of the best-fitting frequency band of type II fibers. Results: The results of rat experiments showed that type I fibers best fit the frequency band of 20–330 Hz and type II fibers best fit the frequency band of 176–500 Hz. The results of human testing showed that the atrophy of the two types of fibers was consistent with the changes in the areas of the corresponding best-fitting frequency bands. Conclusions: The test results demonstrate the feasibility of using surface electromyography to evaluate muscle fiber-type composition and subsequently assess muscle atrophy. Further research may contribute to the diagnosis and treatment of disuse muscle atrophy.
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(This article belongs to the Special Issue Recent Advances in Diagnosis and Management of Musculoskeletal Disorders)
Open AccessReview
Primary and Metastatic Pancreatic Ewing Sarcomas: A Case Report and Review of the Literature
by
Nektarios I. Koufopoulos, Menelaos G. Samaras, Christakis Kotanidis, Konstantinos Skarentzos, Abraham Pouliakis, Ioannis Boutas, Adamantia Kontogeorgi, Magda Zanelli, Andrea Palicelli, Maurizio Zizzo, Giuseppe Broggi, Rosario Caltabiano, Anastasios I. Kyriazoglou and Dimitrios Goutas
Diagnostics 2024, 14(23), 2694; https://doi.org/10.3390/diagnostics14232694 - 29 Nov 2024
Abstract
Ewing sarcomas are rare tumors arising mainly in the bones and the surrounding soft tissues. Primary extraosseous Ewing sarcomas have also been described in several other organs and locations other than bones, including the pancreas. These tumors have well-defined histological, immunohistochemical, and molecular
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Ewing sarcomas are rare tumors arising mainly in the bones and the surrounding soft tissues. Primary extraosseous Ewing sarcomas have also been described in several other organs and locations other than bones, including the pancreas. These tumors have well-defined histological, immunohistochemical, and molecular characteristics. In this manuscript, we present a case of primary Ewing sarcoma of the pancreas in a 29-year-old patient, and we systematically review the literature on both primary and metastatic Ewing sarcomas of the pancreas, describing their clinicopathological characteristics. We also discuss the differential diagnosis and the treatment of this rare entity.
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(This article belongs to the Special Issue Advances in the Diagnosis of Gastrointestinal Diseases—2nd Edition)
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Open AccessArticle
Enhancing Dysarthric Voice Conversion with Fuzzy Expectation Maximization in Diffusion Models for Phoneme Prediction
by
Wen-Shin Hsu, Guang-Tao Lin and Wei-Hsun Wang
Diagnostics 2024, 14(23), 2693; https://doi.org/10.3390/diagnostics14232693 - 29 Nov 2024
Abstract
Introduction: Dysarthria, a motor speech disorder caused by neurological damage, significantly hampers speech intelligibility, creating communication barriers for affected individuals. Voice conversion (VC) systems have been developed to address this, yet accurately predicting phonemes in dysarthric speech remains a challenge due to its
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Introduction: Dysarthria, a motor speech disorder caused by neurological damage, significantly hampers speech intelligibility, creating communication barriers for affected individuals. Voice conversion (VC) systems have been developed to address this, yet accurately predicting phonemes in dysarthric speech remains a challenge due to its variability. This study proposes a novel approach that integrates Fuzzy Expectation Maximization (FEM) with diffusion models for enhanced phoneme prediction, aiming to improve the quality of dysarthric voice conversion. Methods: The proposed method combines FEM clustering with Diffusion Probabilistic Models (DPM). Diffusion models simulate noise addition and removal to enhance the robustness of speech signals, while FEM iteratively optimizes phoneme boundaries, reducing uncertainty. The system was trained using the Saarland University Voice Disorder dataset, consisting of dysarthric and normal speech samples, with the conversion process represented in the Mel-spectrogram domain. The framework employs both subjective (Mean Opinion Score, MOS) and objective (Word Error Rate, WER) metrics for evaluation, complemented by ablation studies. Results: Experimental results showed that the proposed method significantly improved phoneme prediction accuracy and overall voice conversion quality. It achieved higher MOSs for naturalness, intelligibility, and speaker similarity compared to existing models like StarGAN-VC and CycleGAN-VC. Additionally, the proposed method demonstrated a lower WER for both mild and severe dysarthria cases, indicating better performance in producing intelligible speech. Discussion: The integration of FEM with diffusion models offers substantial improvements in handling the irregularities of dysarthric speech. The method’s robustness, as evidenced by the ablation studies, shows that it can maintain speech naturalness and intelligibility even without a speaker-encoder. These findings suggest that the proposed approach can contribute to the development of more reliable assistive communication technologies for individuals with dysarthria, providing a promising foundation for future advancements in personalized speech therapy.
Full article
(This article belongs to the Special Issue Classification of Diseases Using Machine Learning Algorithms)
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