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 - Q2 (Medicine, General & Internal)
- Rapid Publication: manuscripts are peer-reviewed and a first decision is provided to authors approximately 20.7 days after submission; acceptance to publication is undertaken in 2.8 days (median values for papers published in this journal in the second half of 2023).
- 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:
3.6 (2022);
5-Year Impact Factor:
3.7 (2022)
Latest Articles
Three-Dimensional Structure of Novel Liver Cancer Biomarker Liver Cancer-Specific Serine Protease Inhibitor Kazal (LC-SPIK) and Its Performance in Clinical Diagnosis of Hepatocellular Carcinoma (HCC)
Diagnostics 2024, 14(7), 725; https://doi.org/10.3390/diagnostics14070725 (registering DOI) - 29 Mar 2024
Abstract
LC-SPIK is a liver cancer-specific isoform of Serine Protease Inhibitor Kazal and has been proposed as a new biomarker for the detection of HCC given its unique 3D structure, which differs from normal pancreatic SPIK. An ELISA technology based on its unique structure
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LC-SPIK is a liver cancer-specific isoform of Serine Protease Inhibitor Kazal and has been proposed as a new biomarker for the detection of HCC given its unique 3D structure, which differs from normal pancreatic SPIK. An ELISA technology based on its unique structure was developed to use LC-SPIK as an effective biomarker for the clinical diagnosis of HCC. AFP, the most widely used biomarker for HCC surveillance currently, suffers from poor clinical performance, especially in the detection of early-stage HCC. In one case–control study, which included 164 HCC patients and 324 controls, LC-SPIK had an AUC of 0.87 compared to only 0.70 for AFP in distinguishing HCC from liver disease controls (cirrhosis, HBV/HCV). LC-SPIK also performed significantly better than AFP for the 81 patients with early-stage HCC (BCLC stage 0 and A), with an AUC of 0.85 compared to only 0.61 for AFP. Cirrhosis is the major risk factor for HCC; about 80% of patients with newly diagnosed HCC have preexisting cirrhosis. LC-SPIK’s clinical performance was also studied in HCC patients with viral and non-viral cirrhosis, including cirrhosis caused by metabolic dysfunction-associated steatotic liver disease (MASLD) and alcoholic liver disease (ALD). In a total of 163 viral cirrhosis patients with 93 HCC patients (50 early-stage), LC-SPIK had an AUC of 0.85, while AFP had an AUC of 0.70. For patients with early-stage HCC, LC-SPIK had a similar AUC of 0.83, while AFP had an AUC of only 0.60. For 120 patients with nonviral cirrhosis, including 62 HCC (23 early-stage) patients, LC-SPIK had an AUC of 0.84, while AFP had an AUC of only 0.72. For the 23 patients with early-stage HCC, LC-SPIK had a similar AUC of 0.83, while the AUC for AFP decreased to 0.65. All these results suggest that LC-SPIK exhibits significantly better performance in the detection of HCC than AFP in all etiologies of liver diseases. In addition, LC-SPIK accurately detected the presence of HCC in 71–91% of HCC patients with false-negative AFP test results in viral-associated HCC and non-viral-associated HCC.
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(This article belongs to the Special Issue Improvement of Diagnostic Sensitivity for Tumor Markers)
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Elbow Reconstruction with Megaprosthesis: An Effective Strategy for Salvage Surgery in Trauma Patients
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Serban Dragosloveanu, Mihnea-Alexandru Petre, Mihai Emanuel Gherghe, Radu Octavian Baz, Romica Cergan and Cristian Scheau
Diagnostics 2024, 14(7), 724; https://doi.org/10.3390/diagnostics14070724 (registering DOI) - 29 Mar 2024
Abstract
Delayed fracture healing can have devastating functional consequences, including pseudoarthrosis. Many factors can contribute to delayed healing, including decreased vascularity, micro-motion at the fracture site, large fracture gaps, multiple traumas at the same site, compromised metabolic status, surgical complications, and other conditions. A
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Delayed fracture healing can have devastating functional consequences, including pseudoarthrosis. Many factors can contribute to delayed healing, including decreased vascularity, micro-motion at the fracture site, large fracture gaps, multiple traumas at the same site, compromised metabolic status, surgical complications, and other conditions. A 61-year-old female patient was referred to our hospital with left distal humeral pseudarthrosis, accompanied by chronic pain and disability. Two years prior, the patient suffered a traumatic incident. At another medical facility, the patient underwent open reduction and internal fixation surgery with simultaneous ulnar nerve transposition. She showed favorable postoperative recovery. Unfortunately, approximately one year later, the patient sustained a second trauma to the same arm. This led to peri-implant fracture and post-traumatic aseptic degradation of the osteosynthesis system which was subsequently removed. Twelve months after the last surgery, the patient was referred to our hospital and, after thorough consideration of the therapeutic options, we decided to perform left elbow arthroplasty with left distal humeral reconstruction by using Zimmer’s Comprehensive Segmental Revision System. This approach is generally reserved for tumors, and only a handful of cases of megaprostheses for non-tumoral indications have been previously reported. The surgery and perioperative care of our patient were optimal, there were no complications, and the patient recovered arm functionality following rehabilitation.
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(This article belongs to the Section Medical Imaging and Theranostics)
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A Sustainable Approach to Asthma Diagnosis: Classification with Data Augmentation, Feature Selection, and Boosting Algorithm
by
Zne-Jung Lee, Ming-Ren Yang and Bor-Jiunn Hwang
Diagnostics 2024, 14(7), 723; https://doi.org/10.3390/diagnostics14070723 (registering DOI) - 29 Mar 2024
Abstract
Asthma is a diverse disease that affects over 300 million individuals globally. The prevalence of asthma has increased by 50% every decade since the 1960s, making it a serious global health issue. In addition to its associated high mortality, asthma generates large economic
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Asthma is a diverse disease that affects over 300 million individuals globally. The prevalence of asthma has increased by 50% every decade since the 1960s, making it a serious global health issue. In addition to its associated high mortality, asthma generates large economic losses due to the degradation of patients’ quality of life and the impairment of their physical fitness. Asthma research has evolved in recent years to fully analyze why certain diseases develop based on a variety of data and observations of patients’ performance. The advent of new techniques offers good opportunities and application prospects for the development of asthma diagnosis methods. Over the last few decades, techniques like data mining and machine learning have been utilized to diagnose asthma. Nevertheless, these traditional methods are unable to address all of the difficulties associated with improving a small dataset to increase its quantity, quality, and feature space complexity at the same time. In this study, we propose a sustainable approach to asthma diagnosis using advanced machine learning techniques. To be more specific, we use feature selection to find the most important features, data augmentation to improve the dataset’s resilience, and the extreme gradient boosting algorithm for classification. Data augmentation in the proposed method involves generating synthetic samples to increase the size of the training dataset, which is then utilized to enhance the training data initially. This could lessen the phenomenon of imbalanced data related to asthma. Then, to improve diagnosis accuracy and prioritize significant features, the extreme gradient boosting technique is used. The outcomes indicate that the proposed approach performs better in terms of diagnostic accuracy than current techniques. Furthermore, five essential features are extracted to help physicians diagnose asthma.
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(This article belongs to the Special Issue Diagnosing Respiratory Diseases and Impaired Gas Exchange Using Machine Learning)
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Clinical, Epidemiological, Morphological, and Immunohistochemical Aspects of Nasopharyngeal Carcinoma—4-Year Retrospective Study in the Western Part of Romania
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Maria Alina Marin, Raluca-Maria Closca, Aurel Marin, Marina Rakitovan, Adrian Nicoara, Marioara Poenaru, Marius Militaru and Flavia Baderca
Diagnostics 2024, 14(7), 722; https://doi.org/10.3390/diagnostics14070722 (registering DOI) - 29 Mar 2024
Abstract
Nasopharyngeal carcinoma is one of the most common malignant tumors in the head and neck region. The carcinogenesis is a complex process stimulated by many factors. Although the etiological factors and pathogenic mechanisms are not elucidated, the genetic susceptibility, environmental factors, and association
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Nasopharyngeal carcinoma is one of the most common malignant tumors in the head and neck region. The carcinogenesis is a complex process stimulated by many factors. Although the etiological factors and pathogenic mechanisms are not elucidated, the genetic susceptibility, environmental factors, and association with latent infection with Epstein–Barr Virus play an important role. The aim of this study was to present the main clinical and epidemiological data, as well as the morphological aspects and the immunohistochemical profile, of patients with nasopharyngeal carcinoma diagnosed in western Romania. The study was retrospective and included 36 nasopharyngeal carcinomas. The histopathological diagnosis was completed using immunohistochemical reactions for the following antibodies: p63, p53 and p16 protein, cytokeratins (CK) AE1/AE3, CK5, CK7, CK20 and 34βE12, epithelial membrane antigen (EMA), Epstein–Barr virus (EBV), leukocyte common antigen (LCA), CD20, CD4, CD8, CD68, CD117, and CD1a. The squamous malignant component of nasopharyngeal carcinoma presented with positivity for cytokeratins AE1/AE3, CK5, 34βE12, and p63. Undifferentiated nasopharyngeal carcinoma was positive for EMA in 67% of cases, and 28% of cases showed an immunoreaction for CD117 in the malignant epithelial component. Also, the p53 protein was positive in all the cases. One case of undifferentiated nasopharyngeal carcinoma was p16-positive, and two cases were positive for EBV. A peri- and intratumor cellular infiltrate rich in lymphocytes, with a predominance of CD20-positive B lymphocytes, interspersed with T lymphocytes, was observed. The T cells were CD4- and CD8-positive, predominantly intratumoral, and the CD4:CD8 ratio was 1:1 for 75% of the undifferentiated subtype and 89% for differentiated non-keratinized squamous cell carcinoma. All subtypes of nasopharyngeal carcinoma presented with an inflammatory infiltrate with numerous plasma cells, eosinophils, and dendritic cells, presenting as antigen CD1a- and CD68-positive, as well as in CD117-positive mast cells.
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(This article belongs to the Special Issue Head and Neck Cancers: Diagnosis and Management)
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Comparison of SD Bioline Malaria Ag Pf/Pan and Acro Malaria P.f./P.v./Pan with Microscopy and Real Time PCR for the Diagnosis of Human Plasmodium Species
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Marylin Madamet, Isabelle Fonta, Joel Mosnier, Nicolas Benoit, Rémy Amalvict, Sébastien Briolant, French National Reference Centre for Imported Malaria Study Group and Bruno Pradines
Diagnostics 2024, 14(7), 721; https://doi.org/10.3390/diagnostics14070721 (registering DOI) - 29 Mar 2024
Abstract
The early diagnosis of malaria is crucial to controlling morbidity and mortality. The World Health Organization (WHO) recommends diagnosing malaria either using light microscopy or a malaria rapid diagnostic test (RDT). Most RDTs use antibodies to detect two P. falciparum histidine-rich proteins named
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The early diagnosis of malaria is crucial to controlling morbidity and mortality. The World Health Organization (WHO) recommends diagnosing malaria either using light microscopy or a malaria rapid diagnostic test (RDT). Most RDTs use antibodies to detect two P. falciparum histidine-rich proteins named PfHRP2 and PfHRP3. However, false-negative results are known to occur due to the poor performance of RDTs depending on the species and the deletion of the Pfhrp2 and Pfhrp3 genes. This study evaluated new malaria RDTs for the detection of the human Plasmodium species. The Acro Malaria P.f./P.v./Pan Rapid Test Cassette allows the qualitative detection of parasite antigens, such as PfHRP2 specific to Plasmodium falciparum, PvLDH specific to Plasmodium vivax, and/or panLDH Plasmodium genus lactate dehydrogenase, in the blood of infected individuals. This RDT was assessed against 229 samples collected from imported malaria cases, mainly from Africa. The samples were previously diagnosed using light microscopy and RDT (SD Malaria Ag P.f./Pan, SD Bioline Alere Abbott), then confirmed using real time PCR. The two RDTs were evaluated using a comparison with real time PCR as the reference method, and their performances were compared with each other. Compared to SD RDT, the Acro RDT showed a better sensitivity to P. falciparum (96.8% vs. 89.8%), P. vivax (78.6% vs. 64.3%), P. ovale (73.7% vs. 5.3%), and P. malariae (20.0% vs. 0%). The respective specificities of the Acro RDT and SD RDT are 90.7% vs. 95.3% to P. falciparum, 100% to P. vivax, and 100% vs. 100% to Plasmodium genus. Therefore, Acro RDT showed better performance in the identification of P. ovale and low parasitaemia of P. falciparum. In addition, Acro RDT has the advantage of detecting PvLDH-specific antigens. The Acro Malaria RDT presents the benefits of detecting a P. falciparum antigen (PfHRP2) and a P. vivax antigen (PvLDH) with high sensitivity (96.8% and 73.7%, respectively) and specificity (90.7% and 100%, respectively). Acro Malaria P.f./P.v./Pan rapid diagnostic tests could be effectively used in endemic areas, especially when microscopic examination cannot be performed.
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(This article belongs to the Special Issue 2nd Edition: Laboratory Diagnosis in Microbial Diseases)
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Whole Blood as a Sample Matrix in Homogeneous Time-Resolved Assay—Förster Resonance Energy Transfer-Based Antibody Detection
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Annika Lintala, Olli Vapalahti, Arttu Nousiainen, Anu Kantele and Jussi Hepojoki
Diagnostics 2024, 14(7), 720; https://doi.org/10.3390/diagnostics14070720 (registering DOI) - 29 Mar 2024
Abstract
The protein-L-utilizing Förster resonance energy transfer (LFRET) assay enables mix-and-read antibody detection, as demonstrated for sera from patients with, e.g., severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Zika virus, and orthohantavirus infections. In this study, we compared paired serum and whole blood (WB)
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The protein-L-utilizing Förster resonance energy transfer (LFRET) assay enables mix-and-read antibody detection, as demonstrated for sera from patients with, e.g., severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Zika virus, and orthohantavirus infections. In this study, we compared paired serum and whole blood (WB) samples of COVID-19 patients and SARS-CoV-2 vaccine recipients. We found that LFRET also detects specific antibodies in WB samples. In 44 serum–WB pairs from patients with laboratory-confirmed COVID-19, LFRET showed a strong correlation between the sample materials. By analyzing 89 additional WB samples, totaling 133 WB samples, we found that LFRET results were moderately correlated with enzyme-linked immunosorbent assay results for samples collected 2 to 14 months after receiving COVID-19 diagnosis. However, the correlation decreased for samples >14 months after receiving a diagnosis. When comparing the WB LFRET results to neutralizing antibody titers, a strong correlation emerged for samples collected 1 to 14 months after receiving a diagnosis. This study also highlights the versatility of LFRET in detecting antibodies directly from WB samples and suggests that it could be employed for rapidly assessing antibody responses to infectious agents or vaccines.
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(This article belongs to the Section Point-of-Care Diagnostics and Devices)
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Development of a Non-Invasive Machine-Learned Point-of-Care Rule-Out Test for Coronary Artery Disease
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Timothy Burton, Farhad Fathieh, Navid Nemati, Horace R. Gillins, Ian P. Shadforth, Shyam Ramchandani and Charles R. Bridges
Diagnostics 2024, 14(7), 719; https://doi.org/10.3390/diagnostics14070719 - 28 Mar 2024
Abstract
The current standard of care for coronary artery disease (CAD) requires an intake of radioactive or contrast enhancement dyes, radiation exposure, and stress and may take days to weeks for referral to gold-standard cardiac catheterization. The CAD diagnostic pathway would greatly benefit from
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The current standard of care for coronary artery disease (CAD) requires an intake of radioactive or contrast enhancement dyes, radiation exposure, and stress and may take days to weeks for referral to gold-standard cardiac catheterization. The CAD diagnostic pathway would greatly benefit from a test to assess for CAD that enables the physician to rule it out at the point of care, thereby enabling the exploration of other diagnoses more rapidly. We sought to develop a test using machine learning to assess for CAD with a rule-out profile, using an easy-to-acquire signal (without stress/radiation) at the point of care. Given the historic disparate outcomes between sexes and urban/rural geographies in cardiology, we targeted equal performance across sexes in a geographically accessible test. Noninvasive photoplethysmogram and orthogonal voltage gradient signals were simultaneously acquired in a representative clinical population of subjects before invasive catheterization for those with CAD (gold-standard for the confirmation of CAD) and coronary computed tomographic angiography for those without CAD (excellent negative predictive value). Features were measured from the signal and used in machine learning to predict CAD status. The machine-learned algorithm achieved a sensitivity of 90% and specificity of 59%. The rule-out profile was maintained across both sexes, as well as all other relevant subgroups. A test to assess for CAD using machine learning on a noninvasive signal has been successfully developed, showing high performance and rule-out ability. Confirmation of the performance on a large clinical, blinded, enrollment-gated dataset is required before implementation of the test in clinical practice.
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(This article belongs to the Special Issue Artificial Intelligence in Cardiology Diagnosis )
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Radiomics-Based Machine Learning Model for Diagnosis of Acute Pancreatitis Using Computed Tomography
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Stefanie Bette, Luca Canalini, Laura-Marie Feitelson, Piotr Woźnicki, Franka Risch, Adrian Huber, Josua A. Decker, Kartikay Tehlan, Judith Becker, Claudia Wollny, Christian Scheurig-Münkler, Thomas Wendler, Florian Schwarz and Thomas Kroencke
Diagnostics 2024, 14(7), 718; https://doi.org/10.3390/diagnostics14070718 - 28 Mar 2024
Abstract
In the early diagnostic workup of acute pancreatitis (AP), the role of contrast-enhanced CT is to establish the diagnosis in uncertain cases, assess severity, and detect potential complications like necrosis, fluid collections, bleeding or portal vein thrombosis. The value of texture analysis/radiomics of
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In the early diagnostic workup of acute pancreatitis (AP), the role of contrast-enhanced CT is to establish the diagnosis in uncertain cases, assess severity, and detect potential complications like necrosis, fluid collections, bleeding or portal vein thrombosis. The value of texture analysis/radiomics of medical images has rapidly increased during the past decade, and the main focus has been on oncological imaging and tumor classification. Previous studies assessed the value of radiomics for differentiating between malignancies and inflammatory diseases of the pancreas as well as for prediction of AP severity. The aim of our study was to evaluate an automatic machine learning model for AP detection using radiomics analysis. Patients with abdominal pain and contrast-enhanced CT of the abdomen in an emergency setting were retrospectively included in this single-center study. The pancreas was automatically segmented using TotalSegmentator and radiomics features were extracted using PyRadiomics. We performed unsupervised hierarchical clustering and applied the random-forest based Boruta model to select the most important radiomics features. Important features and lipase levels were included in a logistic regression model with AP as the dependent variable. The model was established in a training cohort using fivefold cross-validation and applied to the test cohort (80/20 split). From a total of 1012 patients, 137 patients with AP and 138 patients without AP were included in the final study cohort. Feature selection confirmed 28 important features (mainly shape and first-order features) for the differentiation between AP and controls. The logistic regression model showed excellent diagnostic accuracy of radiomics features for the detection of AP, with an area under the curve (AUC) of 0.932. Using lipase levels only, an AUC of 0.946 was observed. Using both radiomics features and lipase levels, we showed an excellent AUC of 0.933 for the detection of AP. Automated segmentation of the pancreas and consecutive radiomics analysis almost achieved the high diagnostic accuracy of lipase levels, a well-established predictor of AP, and might be considered an additional diagnostic tool in unclear cases. This study provides scientific evidence that automated image analysis of the pancreas achieves comparable diagnostic accuracy to lipase levels and might therefore be used in the future in the rapidly growing era of AI-based image analysis.
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(This article belongs to the Special Issue Advanced Intelligent Data Analysis for Medical Diagnosis)
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Deceased Kidney Donor Biomarkers: Relationship between Delayed Kidney Function and Graft Function Three Years after Transplantation
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Rima Maslauskiene, Ruta Vaiciuniene, Peteris Tretjakovs, Gita Gersone, Aurelija Radzeviciene, Andrejus Bura, Edgaras Stankevicius and Inga Arune Bumblyte
Diagnostics 2024, 14(7), 717; https://doi.org/10.3390/diagnostics14070717 - 28 Mar 2024
Abstract
With an increasing number of marginal donors, additional methods for the evaluation of cadaveric kidney quality are required. This study aimed to evaluate pretransplant deceased donor serum (s) and urine (u) biomarkers, including neutrophil gelatinase-associated lipocalin (NGAL), kidney injury molecule-1 (KIM-1), interleukin-18, and
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With an increasing number of marginal donors, additional methods for the evaluation of cadaveric kidney quality are required. This study aimed to evaluate pretransplant deceased donor serum (s) and urine (u) biomarkers, including neutrophil gelatinase-associated lipocalin (NGAL), kidney injury molecule-1 (KIM-1), interleukin-18, and C-X-C motif chemokine 10 (CXCL10) for predicting early and late graft function. In total, 43 deceased kidney donors and 76 corresponding recipients were enrolled. Delayed graft function (DGF) occurred in 27.6% of cases. sIL-18, sKIM-1, uNGAL, and uKIM-1 were predictors of DGF. A model incorporating sIL-18, uKIM-1, and clinical factors was developed to predict DGF (AUROC 0.863). Univariate analysis showed a negative association between uKIM and graft eGFR at 6, 12, 24, and 36 months, but this was not confirmed in the multivariate analysis. In conclusion, we report a superior performance of donor biomarkers for predicting DGF and later graft function over serum creatinine. Higher levels of donor sIL-18 and uKIM in conjunction with expanded-criteria donors and longer cold ischemia times predicted DGF. With no renal tubular damage in zero-time donor biopsies, higher pretransplant urine and serum NGAL levels were associated with better allograft function one year after transplantation, and sNGAL with graft function three years after transplantation.
Full article
(This article belongs to the Special Issue Updates on the Diagnosis and Management of Heart, Lung, and Kidney Transplantation)
Open AccessReview
Why Do Nasolabial Folds Appear? Exploring the Anatomical Perspectives and the Role of Thread-Based Interventions
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Gi-Woong Hong, Sehyun Song, Soo Yeon Park, Sang-Bong Lee, Jovian Wan, Kyung-Seok Hu and Kyu-Ho Yi
Diagnostics 2024, 14(7), 716; https://doi.org/10.3390/diagnostics14070716 - 28 Mar 2024
Abstract
The classification of nasolabial folds into three types, each with distinct causative factors and mechanisms, is explored. Age-related changes in facial skin and connective tissues are examined in detail, revealing variations across different facial regions due to variances in tissue firmness and thickness.
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The classification of nasolabial folds into three types, each with distinct causative factors and mechanisms, is explored. Age-related changes in facial skin and connective tissues are examined in detail, revealing variations across different facial regions due to variances in tissue firmness and thickness. The innovative ‘Reverse Technique,’ involving cog threads to enhance tissue traction and effectiveness in thread-lifting procedures, is introduced. Detailed technical guidelines, anatomical considerations, and safety measures are provided, emphasizing the importance of identifying optimal vectors and fixing points to achieve maximum lifting effects while minimizing potential risks, particularly those associated with vascular structures. Additionally, the ‘Cross Technique using volumizing thread’ is discussed, designed to smooth tissue boundaries and rejuvenate sagging areas. Facial anatomy, including the positioning of arteries and ligaments, is underscored as essential for ensuring the safety and efficacy of procedures. In conclusion, this review stands as a comprehensive guide for practitioners, offering insights into innovative thread-lifting methods and their applications in addressing nasolabial folds. The primary focus is on achieving optimal aesthetic results while prioritizing patient safety.
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(This article belongs to the Special Issue Advances in Anatomy—Third Edition)
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Low Rate of Postoperative Pterygium Recurrence in Patients under Treatment with Low-Dose Oral Doxycycline for Chronic Blepharitis: A First Report
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Fiammetta Catania, Paolo Vinciguerra and Alessandra Di Maria
Diagnostics 2024, 14(7), 715; https://doi.org/10.3390/diagnostics14070715 - 28 Mar 2024
Abstract
Purpose: Low doses of systemic doxycycline (LD-SD) inhibit angiogenesis and the expression of matrix metalloproteases, which are determinants of pterygium progression. This study aimed to compare the recurrence rate and visual outcome of pterygium excision in patients undergoing chronic treatment with LD-SD for
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Purpose: Low doses of systemic doxycycline (LD-SD) inhibit angiogenesis and the expression of matrix metalloproteases, which are determinants of pterygium progression. This study aimed to compare the recurrence rate and visual outcome of pterygium excision in patients undergoing chronic treatment with LD-SD for chronic refractory blepharitis and LD-SD-naive patients. Methods: A retrospective analysis of patients that underwent surgical excision and conjunctival graft apposition was conducted. Patients were divided in a TETRA group (under LD-SD treatment at the moment of surgery) and a control group. The main outcome was the rate of recurrence at 1 year postoperatively. Secondary outcomes were the comparisons of surface regularity, visual quality, and dry-eye symptoms at 6-week, 6-month, and 1-year follow-up in the two groups. Results: The TETRA group showed a significantly lower rate of 1-year recurrence both in primary (p = 0.034) and recurrent (p < 0.001) pterygia. The best corrected visual acuity (BCVA), astigmatic error, corneal total root mean square (RMS), and ocular surface disease index (OSDI) significantly reduced during the follow-up in both groups. The surface asymmetry index and high-order aberrations (HOAs) significantly reduced only in the TETRA group. The final BCVA was significantly higher, while the OSDI score and total RMS and HOAs were significantly lower in the TETRA group compared to the control. Conclusions: Patients under treatment with LD-SD showed a lower rate of recurrence at 1-year follow-up compared to controls. These patients also experienced higher BCVA and surface regularity and less dry-eye symptoms.
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(This article belongs to the Special Issue Eye Diseases: Diagnosis and Management—Volume 2)
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Bilateral Maxillary Duplication in Tessier No. 7 Cleft: An Uncommon Congenital Deformity with a Challenging Radiological Diagnosis
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Svetlana Antic, Djurdja Bracanovic, Aleksa Janovic, Goran Krstic, Djordje Plavsic and Biljana Markovic Vasiljkovic
Diagnostics 2024, 14(7), 714; https://doi.org/10.3390/diagnostics14070714 - 28 Mar 2024
Abstract
Tessier No. 7 cleft, known as lateral facial cleft, is a rare and understudied entity with an incidence of 1/80,000–1/300,000 live births. Besides perioral tissue abnormalities manifesting as macrostomia, Tessier 7 cleft also involves anomalies of the underlying bony structures. It can appear
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Tessier No. 7 cleft, known as lateral facial cleft, is a rare and understudied entity with an incidence of 1/80,000–1/300,000 live births. Besides perioral tissue abnormalities manifesting as macrostomia, Tessier 7 cleft also involves anomalies of the underlying bony structures. It can appear as part of a syndrome, such as Treacher-Collins syndrome or Goldenhar/Orbito-Auriculo-Vestibular Spectrum, or as an isolated form (unilateral or bilateral) with variable expressions. Bilateral maxillary duplication in Tessier 7 cleft is considered extremely rare, accounting for only two previously presented cases. Given that the cases presented in the literature mainly focus on clinical appearance and surgical treatment, without providing sufficient imaging, we aim to present key radiological features of Tessier 7 cleft in terms of evaluating the involved structures, which is essential for the therapeutic approach and final outcome. A 17-year-old male with incompetent lips and orthodontic abnormalities was referred to our Radiology Department for orthopantomography (OPG) and CT examinations. Hetero-anamnestic data revealed a history of surgical treatment of the commissural cleft conducted 2 months after the birth to enable feeding. Intraoral examination showed a maxillary cleft and supernumerary teeth. Since the given clinical presentation was inconclusive, radiological diagnostics took precedence in elucidating this complex entity.
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(This article belongs to the Special Issue Oral and Maxillofacial Image Diagnosis 2.0)
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Open AccessReview
Medical Relevance, State-of-the-Art and Perspectives of “Sweet Metacode” in Liquid Biopsy Approaches
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Andrea Pinkeova, Natalia Kosutova, Eduard Jane, Lenka Lorencova, Aniko Bertokova, Tomas Bertok and Jan Tkac
Diagnostics 2024, 14(7), 713; https://doi.org/10.3390/diagnostics14070713 - 28 Mar 2024
Abstract
This review briefly introduces readers to an area where glycomics meets modern oncodiagnostics with a focus on the analysis of sialic acid (Neu5Ac)-terminated structures. We present the biochemical perspective of aberrant sialylation during tumourigenesis and its significance, as well as an analytical perspective
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This review briefly introduces readers to an area where glycomics meets modern oncodiagnostics with a focus on the analysis of sialic acid (Neu5Ac)-terminated structures. We present the biochemical perspective of aberrant sialylation during tumourigenesis and its significance, as well as an analytical perspective on the detection of these structures using different approaches for diagnostic and therapeutic purposes. We also provide a comparison to other established liquid biopsy approaches, and we mathematically define an early-stage cancer based on the overall prognosis and effect of these approaches on the patient’s quality of life. Finally, some barriers including regulations and quality of clinical validations data are discussed, and a perspective and major challenges in this area are summarised.
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(This article belongs to the Section Pathology and Molecular Diagnostics)
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Development of Clinical Radiomics-Based Models to Predict Survival Outcome in Pancreatic Ductal Adenocarcinoma: A Multicenter Retrospective Study
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Ayoub Mokhtari, Roberto Casale, Zohaib Salahuddin, Zelda Paquier, Thomas Guiot, Henry C. Woodruff, Philippe Lambin, Jean-Luc Van Laethem, Alain Hendlisz and Maria Antonietta Bali
Diagnostics 2024, 14(7), 712; https://doi.org/10.3390/diagnostics14070712 - 28 Mar 2024
Abstract
Purpose. This multicenter retrospective study aims to identify reliable clinical and radiomic features to build machine learning models that predict progression-free survival (PFS) and overall survival (OS) in pancreatic ductal adenocarcinoma (PDAC) patients. Methods. Between 2010 and 2020 pre-treatment contrast-enhanced CT scans of
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Purpose. This multicenter retrospective study aims to identify reliable clinical and radiomic features to build machine learning models that predict progression-free survival (PFS) and overall survival (OS) in pancreatic ductal adenocarcinoma (PDAC) patients. Methods. Between 2010 and 2020 pre-treatment contrast-enhanced CT scans of 287 pathology-confirmed PDAC patients from two sites of the Hopital Universitaire de Bruxelles (HUB) and from 47 hospitals within the HUB network were retrospectively analysed. Demographic, clinical, and survival data were also collected. Gross tumour volume (GTV) and non-tumoral pancreas (RPV) were semi-manually segmented and radiomics features were extracted. Patients from two HUB sites comprised the training dataset, while those from the remaining 47 hospitals of the HUB network constituted the testing dataset. A three-step method was used for feature selection. Based on the GradientBoostingSurvivalAnalysis classifier, different machine learning models were trained and tested to predict OS and PFS. Model performances were assessed using the C-index and Kaplan–Meier curves. SHAP analysis was applied to allow for post hoc interpretability. Results. A total of 107 radiomics features were extracted from each of the GTV and RPV. Fourteen subgroups of features were selected: clinical, GTV, RPV, clinical & GTV, clinical & GTV & RPV, GTV-volume and RPV-volume both for OS and PFS. Subsequently, 14 Gradient Boosting Survival Analysis models were trained and tested. In the testing dataset, the clinical & GTV model demonstrated the highest performance for OS (C-index: 0.72) among all other models, while for PFS, the clinical model exhibited a superior performance (C-index: 0.70). Conclusions. An integrated approach, combining clinical and radiomics features, excels in predicting OS, whereas clinical features demonstrate strong performance in PFS prediction.
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(This article belongs to the Special Issue Application of Artificial Intelligence in Radiological Imaging Analysis and Diagnosis)
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Open AccessReview
Long COVID: Long-Term Impact of SARS-CoV2
by
Huda Makhluf, Henry Madany and Kenneth Kim
Diagnostics 2024, 14(7), 711; https://doi.org/10.3390/diagnostics14070711 - 28 Mar 2024
Abstract
Four years post-pandemic, SARS-CoV-2 continues to affect many lives across the globe. An estimated 65 million people suffer from long COVID, a term used to encapsulate the post-acute sequelae of SARS-CoV-2 infections that affect multiple organ systems. Known symptoms include chronic fatigue syndrome,
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Four years post-pandemic, SARS-CoV-2 continues to affect many lives across the globe. An estimated 65 million people suffer from long COVID, a term used to encapsulate the post-acute sequelae of SARS-CoV-2 infections that affect multiple organ systems. Known symptoms include chronic fatigue syndrome, brain fog, cardiovascular issues, autoimmunity, dysautonomia, and clotting due to inflammation. Herein, we review long COVID symptoms, the proposed theories behind the pathology, diagnostics, treatments, and the clinical trials underway to explore treatments for viral persistence, autonomic and cognitive dysfunctions, sleep disturbances, fatigue, and exercise intolerance.
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(This article belongs to the Special Issue Symptoms, Diagnosis, Prognosis and Management of Long COVID or Post-COVID Conditions)
Open AccessArticle
Retinal Microcirculation Measurements in Response to Endurance Exercises Analysed by Adaptive Optics Retinal Camera
by
Maria Anna Żmijewska, Zbigniew M. Wawrzyniak, Maciej Janiszewski and Anna Zaleska-Żmijewska
Diagnostics 2024, 14(7), 710; https://doi.org/10.3390/diagnostics14070710 - 28 Mar 2024
Abstract
This study aimed to precisely investigate the effects of intensive physical exercise on retinal microvascular regulation in healthy volunteers through adaptive optics retinal camera (AO) measurement. We included healthy volunteers (11 men and 14 women) aged 20.6 ± 0.9. The heart rate (HR)
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This study aimed to precisely investigate the effects of intensive physical exercise on retinal microvascular regulation in healthy volunteers through adaptive optics retinal camera (AO) measurement. We included healthy volunteers (11 men and 14 women) aged 20.6 ± 0.9. The heart rate (HR) and systolic and diastolic blood pressures (SBP, DBP) were recorded before and after a submaximal physical exertion of continuously riding a training ergometer. The superior temporal retinal artery measurements were captured using the AO—rtx1TM (Imagine Eyes, Orsay, France) without pupil dilation. We compared measures of vessel diameter (VD), lumen diameter (LD), two walls (Wall 1, 2), wall-to-lumen ratio (WLR), and wall cross-sectional analysis (WCSA) before and immediately after the cessation of exercise. Cardiovascular parameter results: After exercise, SBP, DBP, and HR changed significantly from 130.2 ± 13.2 to 159.7 ± 15.6 mm Hg, 81.2 ± 6.3 to 77.1 ± 8.2 mm Hg, and 80.8 ± 16.1 to 175.0 ± 6.2 bpm, respectively (p < 0.002). Retinal microcirculation analysis showed no significant decrease in LD, Wall 1 after exercise: from 96.0 ± 6.8 to 94.9 ± 6.7 (p = 0.258), from 11.0 ± 1.5 to 10.4 ± 1.5 (p = 0.107), respectively, and significant reduction in VD from 118.5 ± 8.3 to 115.9 ± 8.3 (p = 0.047), Wall 2 from 11.5 ± 1.0 to 10.7 ± 1.3 (p = 0.017), WLR from 0.234 ± 0.02 to 0.222 ± 0.010 (p = 0.046), WCSA from 3802.8 ± 577.6 to 3512.3 ± 535.3 (p = 0.016). The AO is a promising technique for investigating the effects of exercise on microcirculation, allowing for the tracking of changes throughout the observation. Intensive dynamic physical exertion increases blood pressure and heart rate and causes the vasoconstriction of small retinal arterioles due to the autoregulation mechanism.
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(This article belongs to the Section Optical Diagnostics)
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Phenotypes and Serum Biomarkers in Sarcoidosis
by
Matteo Della Zoppa, Francesco Rocco Bertuccio, Ilaria Campo, Fady Tousa, Mariachiara Crescenzi, Sara Lettieri, Francesca Mariani, Angelo Guido Corsico, Davide Piloni and Giulia Maria Stella
Diagnostics 2024, 14(7), 709; https://doi.org/10.3390/diagnostics14070709 - 27 Mar 2024
Abstract
Sarcoidosis is a multisystem disease, which is diagnosed on a compatible clinical presentation, non-necrotizing granulomatous inflammation in one or more tissue samples, and exclusion of alternative causes of granulomatous disease. Considering its heterogeneity, numerous aspects of the disease remain to be elucidated. In
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Sarcoidosis is a multisystem disease, which is diagnosed on a compatible clinical presentation, non-necrotizing granulomatous inflammation in one or more tissue samples, and exclusion of alternative causes of granulomatous disease. Considering its heterogeneity, numerous aspects of the disease remain to be elucidated. In this context, the identification and integration of biomarkers may hold significance in clinical practice, aiding in appropriate selection of patients for targeted clinical trials. This work aims to discuss and analyze how validated biomarkers are currently integrated in disease category definitions. Future studies are mandatory to unravel the diverse contributions of genetics, socioeconomic status, environmental exposures, and other sociodemographic variables to disease severity and phenotypic presentation. Furthermore, the implementation of transcriptomics, multidisciplinary approaches, and consideration of patients’ perspectives, reporting innovative insights, could be pivotal for a better understanding of disease pathogenesis and the optimization of clinical assistance.
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(This article belongs to the Special Issue Molecular Diagnosis of Interstitial Lung Disease)
Open AccessReview
Blood Transfusion for Major Trauma in Emergency Department
by
Angela Saviano, Cesare Perotti, Christian Zanza, Yaroslava Longhitano, Veronica Ojetti, Francesco Franceschi, Abdelouahab Bellou, Andrea Piccioni, Eugenio Jannelli, Iride Francesca Ceresa and Gabriele Savioli
Diagnostics 2024, 14(7), 708; https://doi.org/10.3390/diagnostics14070708 - 27 Mar 2024
Abstract
Severe bleeding is the leading cause of death in patients with major trauma admitted to the emergency department. It is estimated that about 50% of deaths happen within a few minutes of the traumatic event due to massive hemorrhage; 30% of deaths are
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Severe bleeding is the leading cause of death in patients with major trauma admitted to the emergency department. It is estimated that about 50% of deaths happen within a few minutes of the traumatic event due to massive hemorrhage; 30% of deaths are related to neurological dysfunction and typically happen within two days of trauma; and approximately 20% of patients died of multiorgan failure and sepsis within days to weeks of the traumatic event. Over the past ten years, there has been an increased understanding of the underlying mechanisms and pathophysiology associated with traumatic bleeding leading to improved management measures. Traumatic events cause significant tissue damage, with the potential for severe blood loss and the release of cytokines and hormones. They are responsible for systemic inflammation, activation of fibrinolysis pathways, and consumption of coagulation factors. As the final results of this (more complex in real life) cascade, patients can develop tissue hypoxia, acidosis, hypothermia, and severe coagulopathy, resulting in a rapid deterioration of general conditions with a high risk of mortality. Prompt and appropriate management of massive bleeding and coagulopathy in patients with trauma remains a significant challenge for emergency physicians in their daily clinical practice. Our review aims to explore literature studies providing evidence on the treatment of hemorrhage with blood support in patients with trauma admitted to the Emergency Department with a high risk of death. Advances in blood transfusion protocols, along with improvements in other resuscitation strategies, have become one of the most important issues to face and a key topic of recent clinical research in this field.
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(This article belongs to the Section Pathology and Molecular Diagnostics)
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Reduced Retinal Blood Vessel Densities Measured by Optical Coherence Tomography Angiography in Keratoconus Patients Are Negatively Correlated with Keratoconus Severity
by
Martin Dominik Leclaire, Jens Julian Storp, Larissa Lahme, Eliane Luisa Esser, Nicole Eter and Maged Alnawaiseh
Diagnostics 2024, 14(7), 707; https://doi.org/10.3390/diagnostics14070707 - 27 Mar 2024
Abstract
Keratoconus (KC) is the most common corneal ectasia. Optical coherence tomography angiography (OCT-A) is a relatively new non-invasive imaging technique that allows the visualization and quantification of retinal and choriocapillary blood vessels. The aim of this study is to assess retinal and choriocapillary
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Keratoconus (KC) is the most common corneal ectasia. Optical coherence tomography angiography (OCT-A) is a relatively new non-invasive imaging technique that allows the visualization and quantification of retinal and choriocapillary blood vessels. The aim of this study is to assess retinal and choriocapillary vessel density (VD) differences between KC patients and healthy controls and to investigate correlations between VD and KC severity. Fifty-two eyes were included in this exploratory study: twenty-six eyes from 26 KC patients and twenty-six eyes from 26 age- and gender-matched healthy controls. All patients underwent Scheimpflug corneal topography with Pentacam, axis lengths measurement and optical coherence tomography angiography (OCT-A). The thinnest spot in corneal pachymetry, maximum K (Kmax) and KC severity indices from the Belin/Ambrósio enhanced ectasia display (BAD) were also assessed. There was a distinct reduction particularly in the retinal VD of the superficial capillary plexus (SCP). Correlation analyses showed strong and moderate negative correlations between the VD in the macular SCP and BAD KC scores and between the SCP VD and Kmax. There was no difference in retinal thickness between the KC and healthy controls. With this study, further evidence for altered VD measurements by OCT-A in KC patients is given. For the first time, we demonstrated negative correlations between BAD KC scores and retinal blood vessel alterations. A major limitation of the study is the relatively small sample size. Since an artefactual reduction of the quantitative OCT-A measurements due to irregular corneal topography in KC must be assumed, it remains to be investigated whether there are also actual changes in the retinal microcirculation in KC.
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(This article belongs to the Special Issue Advances in Diagnosis and Treatment of Corneal Diseases)
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Comments and Illustrations of Ultrasound Findings in Extrapulmonary Tuberculosis Manifestations
by
Kathleen Möller, Axel Löwe, Christian Jenssen, Nitin Chaubal, Heike Gottschall, Benjamin Misselwitz, Meghana Reddy Kurapati, Anoop Reddy Puritipati, Yi Dong, Siegbert Faiss and Christoph F. Dietrich
Diagnostics 2024, 14(7), 706; https://doi.org/10.3390/diagnostics14070706 - 27 Mar 2024
Abstract
This review describes the appearance of extrapulmonary tuberculosis manifestations in comprehensive and multiparametric ultrasound imaging. The aim is to increase awareness of typical ultrasound findings regarding extrapulmonary tuberculosis, correlate those with pathological features, and facilitate differential diagnosis. Point of care ultrasound protocols can
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This review describes the appearance of extrapulmonary tuberculosis manifestations in comprehensive and multiparametric ultrasound imaging. The aim is to increase awareness of typical ultrasound findings regarding extrapulmonary tuberculosis, correlate those with pathological features, and facilitate differential diagnosis. Point of care ultrasound protocols can be used as a screening method in high-risk populations, although the negative findings do not exclude tuberculosis. Conversely, the diagnosis of extrapulmonary tuberculosis can never be made using ultrasound alone, as many ultrasound findings in extrapulmonary tuberculosis are non-specific. However, ultrasound-based sampling techniques can significantly facilitate the collection of samples for microbiological or molecular proof of tuberculosis, as well as facilitating the establishment of alternative diagnoses.
Full article
(This article belongs to the Special Issue Current Challenges and Perspectives of Ultrasound)
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