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
Saliva as a Biological Fluid in SARS-CoV-2 Detection
Diagnostics 2024, 14(9), 922; https://doi.org/10.3390/diagnostics14090922 (registering DOI) - 29 Apr 2024
Abstract
Background: The polymerase chain reaction of upper respiratory tract swab samples was established as the gold standard procedure for diagnosing SARS-CoV-2 during the COVID pandemic. However, saliva collection has attracted attention as an alternative diagnostic collection method. The goal of this study was
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Background: The polymerase chain reaction of upper respiratory tract swab samples was established as the gold standard procedure for diagnosing SARS-CoV-2 during the COVID pandemic. However, saliva collection has attracted attention as an alternative diagnostic collection method. The goal of this study was to compare the use of saliva and nasopharyngeal swab (NPS) samples for the detection of SARS-CoV-2. Methods: Ninety-nine paired samples were evaluated for the detection of SARS-CoV-2 by saliva and swab for a qualitative diagnosis and quantitative comparison of viral particles. Furthermore, the detection limits for each sample collection technique were determined. The cycle threshold (CT) values of the saliva samples, the vaccination status, and the financial costs associated with each collection technique were compared. Results: The results showed qualitative equivalence in diagnosis (96.96%) comparing saliva and swab collection, although there was low quantitative agreement. Furthermore, the detection limit test demonstrated equivalence for both collection methods. We did not observe a statistically significant association between CT values and vaccination status, indicating that the vaccine had no influence on viral load at diagnosis. Finally, we observed that the use of saliva incurs lower financial costs and requires less use of plastic materials, making it more sustainable. Conclusions: These findings support the adoption of saliva collection as a feasible and sustainable alternative to the diagnosis of COVID-19.
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(This article belongs to the Section Diagnostic Microbiology and Infectious Disease)
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Advanced Computational Methods for Radiation Dose Optimization in CT
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Shreekripa Rao, Krishna Sharan, Srinidhi Gururajarao Chandraguthi, Rechal Nisha Dsouza, Leena R. David, Sneha Ravichandran, Mubarak Taiwo Mustapha, Dilip Shettigar, Berna Uzun, Rajagopal Kadavigere, Suresh Sukumar and Dilber Uzun Ozsahin
Diagnostics 2024, 14(9), 921; https://doi.org/10.3390/diagnostics14090921 (registering DOI) - 29 Apr 2024
Abstract
Background: In planning radiotherapy treatments, computed tomography (CT) has become a crucial tool. CT scans involve exposure to ionizing radiation, which can increase the risk of cancer and other adverse health effects in patients. Ionizing radiation doses for medical exposure must be kept
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Background: In planning radiotherapy treatments, computed tomography (CT) has become a crucial tool. CT scans involve exposure to ionizing radiation, which can increase the risk of cancer and other adverse health effects in patients. Ionizing radiation doses for medical exposure must be kept “As Low As Reasonably Achievable”. Very few articles on guidelines for radiotherapy-computed tomography scans are available. This paper reviews the current literature on radiation dose optimization based on the effective dose and diagnostic reference level (DRL) for head, neck, and pelvic CT procedures used in radiation therapy planning. This paper explores the strategies used to optimize radiation doses, and high-quality images for diagnosis and treatment planning. Methods: A cross-sectional study was conducted on 300 patients with head, neck, and pelvic region cancer in our institution. The DRL, effective dose, volumetric CT dose index (CTDIvol), and dose-length product (DLP) for the present and optimized protocol were calculated. DRLs were proposed for the DLP using the 75th percentile of the distribution. The DLP is a measure of the radiation dose received by a patient during a CT scan and is calculated by multiplying the CT dose index (CTDI) by the scan length. To calculate a DRL from a DLP, a large dataset of DLP values obtained from a specific imaging procedure must be collected and can be used to determine the median or 75th-percentile DLP value for each imaging procedure. Results: Significant variations were found in the DLP, CTDIvol, and effective dose when we compared both the standard protocol and the optimized protocol. Also, the optimized protocol was compared with other diagnostic and radiotherapy CT scan studies conducted by other centers. As a result, we found that our institution’s DRL was significantly low. The optimized dose protocol showed a reduction in the CTDIvol (70% and 63%), DLP (60% and 61%), and effective dose (67% and 62%) for both head, neck, and pelvic scans. Conclusions: Optimized protocol DRLs were proposed for comparison purposes.
Full article
(This article belongs to the Special Issue Intelligent Imaging in Nuclear Medicine—2nd Edition)
Open AccessArticle
Innovative Machine Learning Strategies for Early Detection and Prevention of Pregnancy Loss: The Vitamin D Connection and Gestational Health
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Md Abu Sufian, Wahiba Hamzi, Boumediene Hamzi, A. S. M. Sharifuzzaman Sagar, Mustafizur Rahman, Jayasree Varadarajan, Mahesh Hanumanthu and Md Abul Kalam Azad
Diagnostics 2024, 14(9), 920; https://doi.org/10.3390/diagnostics14090920 (registering DOI) - 28 Apr 2024
Abstract
Early pregnancy loss (EPL) is a prevalent health concern with significant implications globally for gestational health. This research leverages machine learning to enhance the prediction of EPL and to differentiate between typical pregnancies and those at elevated risk during the initial trimester. We
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Early pregnancy loss (EPL) is a prevalent health concern with significant implications globally for gestational health. This research leverages machine learning to enhance the prediction of EPL and to differentiate between typical pregnancies and those at elevated risk during the initial trimester. We employed different machine learning methodologies, from conventional models to more advanced ones such as deep learning and multilayer perceptron models. Results from both classical and advanced machine learning models were evaluated using confusion matrices, cross-validation techniques, and analysis of feature significance to obtain correct decisions among algorithmic strategies on early pregnancy loss and the vitamin D serum connection in gestational health. The results demonstrated that machine learning is a powerful tool for accurately predicting EPL, with advanced models such as deep learning and multilayer perceptron outperforming classical ones. Linear discriminant analysis and quadratic discriminant analysis algorithms were shown to have 98 % accuracy in predicting pregnancy loss outcomes. Key determinants of EPL were identified, including levels of maternal serum vitamin D. In addition, prior pregnancy outcomes and maternal age are crucial factors in gestational health. This study’s findings highlight the potential of machine learning in enhancing predictions related to EPL that can contribute to improved gestational health outcomes for mothers and infants.
Full article
(This article belongs to the Special Issue Machine Learning in Obstetrics and Gynecology Diagnosis)
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Primary Cardiac Intimal Sarcoma: Multi-Layered Strategy and Core Role of MDM2 Amplification/Co-Amplification and MDM2 Immunostaining
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Claudiu Nistor, Mara Carsote, Anca-Pati Cucu, Mihaela Stanciu, Florina Ligia Popa, Adrian Ciuche and Mihai-Lucian Ciobica
Diagnostics 2024, 14(9), 919; https://doi.org/10.3390/diagnostics14090919 (registering DOI) - 28 Apr 2024
Abstract
Primary cardiac tumours are relatively uncommon (75% are benign). Across the other 25%, representing malignant neoplasia, sarcomas account for 75–95%, and primary cardiac intimal sarcoma (PCIS) is one of the rarest findings. We aimed to present a comprehensive review and practical considerations from
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Primary cardiac tumours are relatively uncommon (75% are benign). Across the other 25%, representing malignant neoplasia, sarcomas account for 75–95%, and primary cardiac intimal sarcoma (PCIS) is one of the rarest findings. We aimed to present a comprehensive review and practical considerations from a multidisciplinary perspective with regard to the most recent published data in the specific domain of PCIS. We covered the issues of awareness amid daily practice clinical presentation to ultra-qualified management in order to achieve an adequate diagnosis and prompt intervention, also emphasizing the core role of MDM2 immunostaining and MDM2 genetic analysis. An additional base for practical points was provided by a novel on-point clinical vignette with MDM2-positive status. According to our methods (PubMed database search of full-length, English publications from January 2021 to March 2023), we identified three studies and 23 single case reports represented by 22 adults (male-to-female ratio of 1.2; male population with an average age of 53.75 years, range: 35–81; woman mean age of 55.5 years, range: 34–70) and a 4-year-old child. The tumour-related clinical picture was recognized in a matter of one day to ten months on first admission. These non-specific data (with a very low index of suspicion) included heart failure at least NYHA class II, mitral regurgitation and pulmonary hypertension, acute myocardial infarction, ischemic stroke, obstructive shock, and paroxysmal atrial fibrillation. Awareness might come from other complaints such as (most common) dyspnoea, palpitation, chest pressure, cough, asthenia, sudden fatigue, weakness, malaise, anorexia, weight loss, headache, hyperhidrosis, night sweats, and epigastric pain. Two individuals were initially misdiagnosed as having endocarditis. A history of prior treated non-cardiac malignancy was registered in 3/23 subjects. Distant metastasis as the first step of detection (n = 2/23; specifically, brain and intestinal) or during follow-up (n = 6/23; namely, intestinal, brain and bone, in two cases for each, and adrenal) required additional imagery tools (26% of the patients had distant metastasis). Transoesophageal echocardiography, computed tomography (CT), magnetic resonance imagery, and even 18F-FDG positronic emission tomography-CT (which shows hypermetabolic lesions in PCIS) represent the basis of multimodal tools of investigation. Tumour size varied from 3 cm to ≥9 cm (average largest diameter of 5.5 cm). The most frequent sites were the left atrium followed by the right ventricle and the right atrium. Post-operatory histological confirmation was provided in 20/23 cases and, upon tumour biopsy, in 3/23 of them. The post-surgery maximum free-disease interval was 8 years, the fatal outcome was at the earliest two weeks since initial admission. MDM2 analysis was provided in 7/23 subjects in terms of MDM2-positive status (two out of three subjects) at immunohistochemistry and MDM2 amplification (four out of five subjects) at genetic analysis. Additionally, another three studies addressed PCISs, and two of them offered specific MDM2/MDM2 assays (n = 35 patients with PCISs); among the provided data, we mention that one cohort (n = 20) identified a rate of 55% with regard to MDM2 amplification in intimal sarcomas, and this correlated with a myxoid pattern; another cohort (n = 15) showed that MDM2-positive had a better prognostic than MDM2-negative immunostaining. To summarize, MDM2 amplification and co-amplification, for example, with MDM4, CDK4, HMGA3, CCND3, PDGFRA, TERT, KIT, CCND3, and HDAC9, might improve the diagnosis of PCIS in addition to MDM2 immunostaining since 10–20% of these tumours are MDM2-negative. Further studies are necessary to highlight MDM2 applicability as a prognostic factor and as an element to be taken into account amid multi-layered management in an otherwise very aggressive malignancy.
Full article
(This article belongs to the Special Issue New Advances in Thoracic Surgery: Clinical Diagnosis, Treatment, and Prognosis)
Open AccessArticle
Early Identification of Sepsis-Induced Acute Kidney Injury by Using Monocyte Distribution Width, Red-Blood-Cell Distribution, and Neutrophil-to-Lymphocyte Ratio
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Yi-Hsiang Pan, Hung-Wei Tsai, Hui-An Lin, Ching-Yi Chen, Chun-Chieh Chao, Sheng-Feng Lin and Sen-Kuang Hou
Diagnostics 2024, 14(9), 918; https://doi.org/10.3390/diagnostics14090918 (registering DOI) - 28 Apr 2024
Abstract
Sepsis-induced acute kidney injury (AKI) is a common complication in patients with severe illness and leads to increased risks of mortality and chronic kidney disease. We investigated the association between monocyte distribution width (MDW), red-blood-cell volume distribution width (RDW), neutrophil-to-lymphocyte ratio (NLR), sepsis-related
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Sepsis-induced acute kidney injury (AKI) is a common complication in patients with severe illness and leads to increased risks of mortality and chronic kidney disease. We investigated the association between monocyte distribution width (MDW), red-blood-cell volume distribution width (RDW), neutrophil-to-lymphocyte ratio (NLR), sepsis-related organ-failure assessment (SOFA) score, mean arterial pressure (MAP), and other risk factors and sepsis-induced AKI in patients presenting to the emergency department (ED). This retrospective study, spanning 1 January 2020, to 30 November 2020, was conducted at a university-affiliated teaching hospital. Patients meeting the Sepsis-2 consensus criteria upon presentation to our ED were categorized into sepsis-induced AKI and non-AKI groups. Clinical parameters (i.e., initial SOFA score and MAP) and laboratory markers (i.e., MDW, RDW, and NLR) were measured upon ED admission. A logistic regression model was developed, with sepsis-induced AKI as the dependent variable and laboratory parameters as independent variables. Three multivariable logistic regression models were constructed. In Model 1, MDW, initial SOFA score, and MAP exhibited significant associations with sepsis-induced AKI (area under the curve [AUC]: 0.728, 95% confidence interval [CI]: 0.668–0.789). In Model 2, RDW, initial SOFA score, and MAP were significantly correlated with sepsis-induced AKI (AUC: 0.712, 95% CI: 0.651–0.774). In Model 3, NLR, initial SOFA score, and MAP were significantly correlated with sepsis-induced AKI (AUC: 0.719, 95% CI: 0.658–0.780). Our novel models, integrating MDW, RDW, and NLR with initial SOFA score and MAP, can assist with the identification of sepsis-induced AKI among patients with sepsis presenting to the ED.
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(This article belongs to the Special Issue Laboratory Tests for Kidney Diseases)
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Conceptually Funded Usability Evaluation of an Application for Leveraging Descriptive Data Analysis Models for Cardiovascular Research
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Oliver Lohaj, Ján Paralič, Zuzana Pella, Dominik Pella and Adam Pavlíček
Diagnostics 2024, 14(9), 917; https://doi.org/10.3390/diagnostics14090917 (registering DOI) - 28 Apr 2024
Abstract
The focus of this study, and the subject of this article, resides in the conceptually funded usability evaluation of an application of descriptive models to a specific dataset obtained from the East Slovak Institute of Heart and Vascular Diseases targeting cardiovascular patients. Delving
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The focus of this study, and the subject of this article, resides in the conceptually funded usability evaluation of an application of descriptive models to a specific dataset obtained from the East Slovak Institute of Heart and Vascular Diseases targeting cardiovascular patients. Delving into the current state-of-the-art practices, we examine the extent of cardiovascular diseases, descriptive data analysis models, and their practical applications. Most importantly, our inquiry focuses on exploration of usability, encompassing its application and evaluation methodologies, including Van Welie’s layered model of usability and its inherent advantages and limitations. The primary objective of our research was to conceptualize, develop, and validate the usability of an application tailored to supporting cardiologists’ research through descriptive modeling. Using the R programming language, we engineered a Shiny dashboard application named DESSFOCA (Decision Support System For Cardiologists) that is structured around three core functionalities: discovering association rules, applying clustering methods, and identifying association rules within predefined clusters. To assess the usability of DESSFOCA, we employed the System Usability Scale (SUS) and conducted a comprehensive evaluation. Additionally, we proposed an extension to Van Welie’s layered model of usability, incorporating several crucial aspects deemed essential. Subsequently, we rigorously evaluated the proposed extension within the DESSFOCA application with respect to the extended usability model, drawing insightful conclusions from our findings.
Full article
(This article belongs to the Special Issue Machine Learning and Deep learning for Healthcare Data Processing and Analyzing)
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Open AccessReview
Osteochondritis Dissecans of the Elbow in Overhead Athletes: A Comprehensive Narrative Review
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Andro Matković, Thomas Ferenc, Damjan Dimnjaković, Nikolina Jurjević, Vinko Vidjak and Branka R. Matković
Diagnostics 2024, 14(9), 916; https://doi.org/10.3390/diagnostics14090916 (registering DOI) - 28 Apr 2024
Abstract
Osteochondritis dissecans (OCD) of the elbow mainly occurs in overhead athletes (OHAs). This narrative review aimed to comprehensively analyze the epidemiological data, etiological factors, clinical and imaging features, treatment options, and outcomes of OHAs with the diagnosis of elbow OCD. A literature search
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Osteochondritis dissecans (OCD) of the elbow mainly occurs in overhead athletes (OHAs). This narrative review aimed to comprehensively analyze the epidemiological data, etiological factors, clinical and imaging features, treatment options, and outcomes of OHAs with the diagnosis of elbow OCD. A literature search was performed in PubMed/MEDLINE, Scopus, and Web of Science. Individuals with elbow OCD were usually 10–17 years of age with incidence and prevalence varying between studies, depending on the sport activity of the patients. The etiology of OCD lesions is multifactorial, and the main causes are believed to be repetitive trauma, the biomechanical disproportion of the articular surfaces, poor capitellar vascular supply, and inflammatory and genetic factors. Athletes usually presented with elbow pain and mechanical symptoms. The mainstay for the diagnosis of elbow OCD is MRI. The treatment of elbow OCD lesions should be conservative in cases of stable lesions, while various types of surgical treatment are suggested in unstable lesions, depending mainly on the size and localization of the lesion. The awareness of medical practitioners and the timely diagnosis of OCD lesions in OHAs are key to favorable outcomes.
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(This article belongs to the Special Issue Recent Advances in Bone and Joint Imaging—2nd Edition)
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Assessing the Interpretation of Molecular Test Results in the Diagnosis of Bloodstream Infections
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Natalia Słabisz, Patrycja Leśnik, Katarzyna Żybura-Wszoła, Ruth Dudek-Wicher, Urszula Nawrot and Jacek Majda
Diagnostics 2024, 14(9), 915; https://doi.org/10.3390/diagnostics14090915 (registering DOI) - 27 Apr 2024
Abstract
A retrospective study at the 4th Military Clinical Hospital in Wroclaw, Poland, assessed PCR testing alongside blood cultures to guide antimicrobial therapy decisions in hospitalized patients, to determine how much time the results of the molecular tests preceded conventional methods. Among 118 patients,
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A retrospective study at the 4th Military Clinical Hospital in Wroclaw, Poland, assessed PCR testing alongside blood cultures to guide antimicrobial therapy decisions in hospitalized patients, to determine how much time the results of the molecular tests preceded conventional methods. Among 118 patients, Staphylococcus aureus (37%) and Escherichia coli (21%) were the most common bloodstream infection agents. Blood cultures utilized the BacT/ALERT 3D system, and molecular diagnostics were conducted using the FilmArray platform with the BIOFIRE BCID2 panel. Methicillin susceptibility was observed in 66% of S. aureus strains, while 26% of Gram-negative bacilli exhibited an ESBL phenotype. Therapeutic decisions based on molecular test results were often incorrect for S. aureus infections, particularly MSSA (64.5%), but generally accurate for Gram-negative bacilli. The median times from positive blood culture to BCID2 and pathogen identification/susceptibility were 10 h and 52 h, respectively. Molecular diagnostics facilitated faster initiation of appropriate antibiotic therapy, highlighting the need to educate medical staff on proper interpretation. Consulting within an antimicrobial stewardship program (ASP) could enhance the benefits of implementing molecular methods in bloodstream infection diagnostics.
Full article
(This article belongs to the Section Diagnostic Microbiology and Infectious Disease)
Open AccessArticle
Immunohistochemical and Morphometric Analysis of Lung Tissue in Fatal COVID-19
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Ioana-Andreea Gheban-Roșca, Bogdan-Alexandru Gheban, Bogdan Pop, Daniela-Cristina Mironescu, Vasile Costel Siserman, Elena Mihaela Jianu, Tudor Drugan and Sorana D. Bolboacă
Diagnostics 2024, 14(9), 914; https://doi.org/10.3390/diagnostics14090914 (registering DOI) - 27 Apr 2024
Abstract
The primary targets of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in the lungs are type I pneumocytes, macrophages, and endothelial cells. We aimed to identify lung cells targeted by SARS-CoV-2 using viral nucleocapsid protein staining and morphometric features on patients with fatal
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The primary targets of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in the lungs are type I pneumocytes, macrophages, and endothelial cells. We aimed to identify lung cells targeted by SARS-CoV-2 using viral nucleocapsid protein staining and morphometric features on patients with fatal COVID-19. We conducted a retrospective analysis of fifty-one autopsy cases of individuals who tested positive for SARS-CoV-2. Demographic and clinical information were collected from forensic reports, and lung tissue was examined for microscopic lesions and the presence of specific cell types. Half of the evaluated cohort were older than 71 years, and the majority were male (74.5%). In total, 24 patients presented diffuse alveolar damage (DAD), and 50.9% had comorbidities (56.9% obesity, 33.3% hypertension, 15.7% diabetes mellitus). Immunohistochemical analysis showed a similar pattern of infected macrophages, infected type I pneumocytes, and endothelial cells, regardless of the presence of DAD (p > 0.5). The immunohistochemical reactivity score (IRS) was predominantly moderate but without significant differences between patients with and without DAD (p = 0.633 IRS for type I pneumocytes, p = 0.773 IRS for macrophage, and p = 0.737 for IRS endothelium). The nucleus/cytoplasm ratio shows lower values in patients with DAD (median: 0.29 vs. 0.35), but the difference only reaches a tendency for statistical significance (p = 0.083). Our study confirms the presence of infected macrophages, type I pneumocytes, and endothelial cells with a similar pattern in patients with and without diffuse alveolar damage.
Full article
(This article belongs to the Special Issue Updates on Forensic Pathology)
Open AccessArticle
Sports-Related Pure Orbital Blowout Fractures in Japan: Differences in Demographic and Clinical Characteristics between Sports
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Jose Miguel Ambat, Steffani Krista Someda, Hirohiko Kakizaki and Yasuhiro Takahashi
Diagnostics 2024, 14(9), 913; https://doi.org/10.3390/diagnostics14090913 (registering DOI) - 27 Apr 2024
Abstract
The aim of this study was to present the demographic and clinical characteristics of sports-related pure (rim-sparing) orbital blowout fractures and to analyze these differences by type of sport. Ten years of sports-related orbital fracture data were accumulated. Patients were classified into similar
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The aim of this study was to present the demographic and clinical characteristics of sports-related pure (rim-sparing) orbital blowout fractures and to analyze these differences by type of sport. Ten years of sports-related orbital fracture data were accumulated. Patients were classified into similar sports (i.e., soccer and futsal) wherein orbital blowout fractures were obtained, producing 14 groups. This study included 377 sides from 374 patients. The majority of patients were male (83.4%), and the mean population age was 20.9 ± 10.8 years. The most common sports causing injuries were baseball/softball, rugby/football, and martial arts. Single-wall fractures were found in 78.8% of patients, but baseball/softball had a higher frequency of multiple-wall fractures (p = 0.035). Concomitant ocular and periocular injuries occurred in 18.6% of patients, which were frequently caused by baseball/softball (p < 0.001). The field of binocular single vision (BSV) included primary gaze in 84.2% of patients. Surgical management was conducted in 52.1% of patients. This study showed that baseball and softball had the highest rate of multi-wall fractures and concomitant ocular and periocular injuries. The field of BSV measured during the first examination was acceptable in most cases.
Full article
(This article belongs to the Special Issue Advances in the Diagnosis and Management of Sports Medicine)
Open AccessCommunication
Advancing Evidence Generation for Circulating Tumor DNA: Lessons Learned from A Multi-Assay Study of Baseline Circulating Tumor DNA Levels across Cancer Types and Stages
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Brittany A. McKelvey, Hillary S. Andrews, Frederick L. Baehner, James Chen, Carin R. Espenschied, David Fabrizio, Vanessa Gorton, Claire Gould, Justin Guinney, Greg Jones, Xiangyang Lv, Michael S. Nahorski, Melanie R. Palomares, Gary A. Pestano, Mark Sausen, Alain Silk, Nicole Zhang, Zhihong Zhang, Mark D. Stewart and Jeff D. Allen
Diagnostics 2024, 14(9), 912; https://doi.org/10.3390/diagnostics14090912 (registering DOI) - 27 Apr 2024
Abstract
Circulating tumor DNA (ctDNA) holds promise as a biomarker for predicting clinical responses to therapy in solid tumors, and multiple ctDNA assays are in development. However, the heterogeneity in ctDNA levels prior to treatment (baseline) across different cancer types and stages and across
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Circulating tumor DNA (ctDNA) holds promise as a biomarker for predicting clinical responses to therapy in solid tumors, and multiple ctDNA assays are in development. However, the heterogeneity in ctDNA levels prior to treatment (baseline) across different cancer types and stages and across ctDNA assays has not been widely studied. Friends of Cancer Research formed a collaboration across multiple commercial ctDNA assay developers to assess baseline ctDNA levels across five cancer types in early- and late-stage disease. This retrospective study included eight commercial ctDNA assay developers providing summary-level de-identified data for patients with non-small cell lung cancer (NSCLC), bladder, breast, prostate, and head and neck squamous cell carcinoma following a common analysis protocol. Baseline ctDNA levels across late-stage cancer types were similarly detected, highlighting the potential use of ctDNA as a biomarker in these cancer types. Variability was observed in ctDNA levels across assays in early-stage NSCLC, indicative of the contribution of assay analytical performance and methodology on variability. We identified key data elements, including assay characteristics and clinicopathological metadata, that need to be standardized for future meta-analyses across multiple assays. This work facilitates evidence generation opportunities to support the use of ctDNA as a biomarker for clinical response.
Full article
(This article belongs to the Special Issue Emerging Biomarkers of Clinical Diagnosis)
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Open AccessArticle
The Impact of Diagnosis of Human Papillomavirus (HPV) Infection and Electrosurgical Excision Procedure (LEEP) for Cervical Intraepithelial Neoplasia 3 (CIN3) on Women’s Sexual Lives
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Maria Teresa Bruno, Giuseppe Caruso, Elena Torrisi, Raffaela Grimaldi, Biagio Abate, Francesco Saverio Luciani, Susanna Basile and Marco Marzio Panella
Diagnostics 2024, 14(9), 911; https://doi.org/10.3390/diagnostics14090911 (registering DOI) - 27 Apr 2024
Abstract
The aim of the study was to assess sexual health in women who underwent Loop Electrosurgical Excisional Procedure (LEEP) for the treatment of cervical intraepithelial neoplasia 3 (CIN 3). One hundred thirty-one women were enrolled, and the Female Sexual Function Index (FSFI) questionnaire
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The aim of the study was to assess sexual health in women who underwent Loop Electrosurgical Excisional Procedure (LEEP) for the treatment of cervical intraepithelial neoplasia 3 (CIN 3). One hundred thirty-one women were enrolled, and the Female Sexual Function Index (FSFI) questionnaire was administered before LEEP and 6 months after the procedure. In almost all of the participants, data revealed a statistically significant worsening in sexual quality of life after LEEP. Therefore, clinicians should be aware of these possible negative effects on sexual behavior, and provide women with appropriate, wide-ranging, and detailed counseling. The data obtained in the present study should help to plan appropriate counseling from communicating HPV diagnosis and medical treatment to CIN3 surgical procedure.
Full article
(This article belongs to the Section Diagnostic Microbiology and Infectious Disease)
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Open AccessArticle
Frequency and Demographic Analysis of Odontogenic Tumors in Three Tertiary Institutions: An 11-Year Retrospective Study
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Asma Almazyad, Mohammed Alamro, Nasser Almadan, Marzouq Almutairi and Turki S. AlQuwayz
Diagnostics 2024, 14(9), 910; https://doi.org/10.3390/diagnostics14090910 (registering DOI) - 26 Apr 2024
Abstract
Odontogenic tumors (OTs) are distinct conditions that develop in the jawbones, exhibiting diverse histopathological features and variable clinical behaviors. Unfortunately, the literature on this subject in Saudi Arabia remains sparse, indicating a pressing need for more comprehensive data concerning the frequency, demographics, treatment
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Odontogenic tumors (OTs) are distinct conditions that develop in the jawbones, exhibiting diverse histopathological features and variable clinical behaviors. Unfortunately, the literature on this subject in Saudi Arabia remains sparse, indicating a pressing need for more comprehensive data concerning the frequency, demographics, treatment modalities, and outcomes of OTs. Objectives: The study aims to evaluate the frequency, demographic features, treatment, and outcomes of OTs across three tertiary medical centers. Methods and Material: OT cases were identified in King Abdulaziz Medical City (KAMC), King Fahad Medical City (KFMC), and Prince Sultan Military Medical City (PSMMC) from January 2010 to December 2021. Results: Ninety-two OT cases were identified from the anatomical pathology laboratories of three tertiary hospitals. KFMC contributed the highest number of cases (43.5%), followed by KAMC (30.4%) and PSMMC (26.1%). The median age of OT patients was 29 years (range: 5–83), with males representing more than half of the patients (56.5%). The mandible was the most frequent site of OT occurrence (72.5%), with ameloblastoma being the predominant OT (63.0%), followed by odontoma (19.5%). Among the treatment modalities, bone resection was employed the most (51.0%), followed by enucleation (25.6%). Notably, 11.5% of OT cases with available follow-up data exhibited recurrence, with ameloblastoma accounting for eight recurrent cases. Conclusions: Although OTs are relatively common in the jaws, they are rare in anatomical pathology laboratories and the general population. This study contributes valuable insights into the epidemiology characteristics, treatment trends, and recurrence rates of OTs in Saudi Arabia.
Full article
(This article belongs to the Special Issue Advances in the Diagnosis of Oral and Maxillofacial Disease)
Open AccessArticle
Transfer Learning for Automatic Sleep Staging Using a Pre-Gelled Electrode Grid
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Fabian A. Radke, Carlos F. da Silva Souto, Wiebke Pätzold and Karen Insa Wolf
Diagnostics 2024, 14(9), 909; https://doi.org/10.3390/diagnostics14090909 (registering DOI) - 26 Apr 2024
Abstract
Novel sensor solutions for sleep monitoring at home could alleviate bottlenecks in sleep medical care as well as enable selective or continuous observation over long periods of time and contribute to new insights in sleep medicine and beyond. Since especially in the latter
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Novel sensor solutions for sleep monitoring at home could alleviate bottlenecks in sleep medical care as well as enable selective or continuous observation over long periods of time and contribute to new insights in sleep medicine and beyond. Since especially in the latter case the sensor data differ strongly in signal, number and extent of sensors from the classical polysomnography (PSG) sensor technology, an automatic evaluation is essential for the application. However, the training of an automatic algorithm is complicated by the fact that the development phase of the new sensor technology, extensive comparative measurements with standardized reference systems, is often not possible and therefore only small datasets are available. In order to circumvent high system-specific training data requirements, we employ pre-training on large datasets with finetuning on small datasets of new sensor technology to enable automatic sleep phase detection for small test series. By pre-training on publicly available PSG datasets and finetuning on 12 nights recorded with new sensor technology based on a pre-gelled electrode grid to capture electroencephalography (EEG), electrooculography (EOG) and electromyography (EMG), an score across all sleep phases of 0.81 is achieved (wake 0.84, N1 0.62, N2 0.81, N3 0.87, REM 0.88), using only EEG and EOG. The analysis additionally considers the spatial distribution of the channels and an approach to approximate classical electrode positions based on specific linear combinations of the new sensor grid channels.
Full article
(This article belongs to the Special Issue Deep Learning Applications in Healthcare Wearable Devices)
Open AccessReview
The Role of Arthroscopy in Contemporary Glenoid Fossa Fracture Fixation
by
Byron Chalidis, Polychronis P. Papadopoulos, Pericles Papadopoulos and Charalampos Pitsilos
Diagnostics 2024, 14(9), 908; https://doi.org/10.3390/diagnostics14090908 (registering DOI) - 26 Apr 2024
Abstract
Glenoid fossa fractures are rare injuries accounting for 10 to 29% of all intra-articular scapula fractures. They are usually the result of high-energy trauma, and concomitant injuries are not uncommon. Patients with glenoid fractures are admitted with shoulder pain and restricted range of
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Glenoid fossa fractures are rare injuries accounting for 10 to 29% of all intra-articular scapula fractures. They are usually the result of high-energy trauma, and concomitant injuries are not uncommon. Patients with glenoid fractures are admitted with shoulder pain and restricted range of motion. Although shoulder plain radiographs could establish the diagnosis, a computed tomography scan is necessary to adequately define the fracture pattern and characteristics. The most commonly used classification system is that of Ideberg (modified by Goss), which includes five glenoid fossa fracture types according to the location, extension, and complexity of the lesion. Articular surface displacement and step-off are the most important factors that should be taken under consideration when deciding for conservative or surgical management. Operative treatment includes open reduction and internal fixation through a posterior or anterior approach depending on fracture morphology and displacement. However, open surgical techniques are related to extensive soft-tissue disruption, risk of neurovascular injury, and inadequate exposure of the entire glenoid cavity. Introduction of arthroscopy could facilitate better visualization of the glenoid articular surface and improved fracture reduction. However, it is a technically demanding procedure with many challenges and pitfalls. The aim of this review is to summarize the current evidence regarding the treatment of glenoid fossa fractures and present the beneficial effect of arthroscopy in improving the quality of fracture fixation and overall functional outcomes.
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(This article belongs to the Special Issue Arthroscopy Techniques in Diagnosis and Treatment)
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Impressive Response to TANDEM Peptide Receptor Radionuclide Therapy with 177Lu/225AcDOTA-LM3 Somatostatin Receptor Antagonist in a Patient with Therapy-Refractory, Rapidly Progressive Neuroendocrine Neoplasm of the Pancreas
by
Elisabetta Perrone, Kriti Ghai, Aleksandr Eismant, Mikkel Andreassen, Seppo W. Langer, Ulrich Knigge, Andreas Kjaer and Richard P. Baum
Diagnostics 2024, 14(9), 907; https://doi.org/10.3390/diagnostics14090907 (registering DOI) - 26 Apr 2024
Abstract
The present report describes the history of a 58-year-old woman with a rapidly progressing neuroendocrine pancreatic tumor (initially G2) presenting with extensive liver, bone, and lymph node metastases. Previous treatments included chemotherapy, hemithyroidectomy for right lobe metastasis, Peptide Receptor Radionuclide Therapy (PRRT) with
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The present report describes the history of a 58-year-old woman with a rapidly progressing neuroendocrine pancreatic tumor (initially G2) presenting with extensive liver, bone, and lymph node metastases. Previous treatments included chemotherapy, hemithyroidectomy for right lobe metastasis, Peptide Receptor Radionuclide Therapy (PRRT) with [177Lu]Lu-DOTATATE, Lanreotide, Everolimus, and liver embolization. Due to severe disease progression, after a liver biopsy revealing tumor grade G3, PRRT with the somatostatin receptor antagonist LM3 was initiated. [68Ga]GaDOTA-LM3 PET/CT showed intense tracer uptake in the liver, pancreatic tumor, lymph nodes, and bone metastases. Three TANDEM-PRRT cycles using [177Lu]LuDOTA-LM3 and [225Ac]AcDOTA-LM3, administered concurrently, resulted in significant improvement, notably in liver metastases, hepatomegaly reduction, the complete regression of bone and lymph node metastases, and primary tumor improvement. Partial remission was confirmed by positron emission tomography/computed tomography, chest–abdomen–pelvis contrast-enhanced computed tomography, and magnetic resonance of the abdomen, with marked clinical improvement in pain, energy levels, and quality of life, enabling full resumption of physical activity.
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(This article belongs to the Section Medical Imaging and Theranostics)
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Open AccessArticle
Comprehensive Genomic Studies on the Cell Blocks of Pancreatic Cancer
by
Ricella Souza da Silva, Maria João Pina, Luís Cirnes, Luís Gouveia, André Albergaria and Fernando Schmitt
Diagnostics 2024, 14(9), 906; https://doi.org/10.3390/diagnostics14090906 (registering DOI) - 26 Apr 2024
Abstract
Pancreatic cancer is one of the deadliest malignancies, characterized by late-stage diagnosis and limited treatment options. Comprehensive genomic profiling plays an important role in understanding the molecular mechanisms underlying the disease and identifying potential therapeutic targets. Cell blocks (CBs), derived from EUS-FNA, have
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Pancreatic cancer is one of the deadliest malignancies, characterized by late-stage diagnosis and limited treatment options. Comprehensive genomic profiling plays an important role in understanding the molecular mechanisms underlying the disease and identifying potential therapeutic targets. Cell blocks (CBs), derived from EUS-FNA, have become valuable resources for diagnosis and genomic analysis. We examine the molecular profile of pancreatic ductal adenocarcinoma (PDAC) using specimens obtained from CB EUS-FNA, across a large gene panel, within the framework of next-generation sequencing (NGS). Our findings revealed that over half (55%) of PDAC CB cases provided adequate nucleic acid for next-generation sequencing, with tumor cell percentages averaging above 30%. Despite challenges such as low DNA quantification and degraded DNA, sequencing reads showed satisfactory quality control statistics, demonstrating the detection of genomic alterations. Most cases (84.6%) harbored at least one gene variant, including clinically significant gene mutation variants such as KRAS, TP53, and CDKN2A. Even at minimal concentrations, as long as the extracted DNA is of high quality, performing comprehensive molecular profiling on PDAC samples from cell blocks has remained feasible. This strategy has yielded valuable information about the diagnosis, genetic landscape, and potential therapeutic targets, aligning closely with a precision cytopathology approach.
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(This article belongs to the Special Issue Cyto-Histological Correlations in Pathology Diagnosis)
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Open AccessCase Report
Case Report: A Sudden Thyroid-Related Death of a 15-Year-Old Girl
by
Kálmán Rácz, Gábor Simon, Andrea Kurucz, Gergő Tamás Harsányi, Miklós Török, László Tamás Herczeg and Péter Attila Gergely
Diagnostics 2024, 14(9), 905; https://doi.org/10.3390/diagnostics14090905 (registering DOI) - 26 Apr 2024
Abstract
A 15-year-old young girl was found dead at home. There were no indications of any intervention or the application of force. On the previous day, she was admitted to hospital because of palpitations, fatigue, a headache, and a swollen neck. During a physical
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A 15-year-old young girl was found dead at home. There were no indications of any intervention or the application of force. On the previous day, she was admitted to hospital because of palpitations, fatigue, a headache, and a swollen neck. During a physical examination, a swollen thyroid gland and tachycardia were found. In the family history, her mother had thyroid disease. According to the laboratory values, she had elevated thyroid hormone levels. After administration of beta-blockers, the patient was discharged and died at home during the night. The parents denounced the hospital for medical malpractice; therefore, a Forensic Autopsy was performed. Based on the available clinical data, the autopsy, histological and toxicological results, the cause of death was stated as multiorgan failure due to disseminated intravascular coagulation (DIC) caused by the autoimmune Graves disease. The forensic assessment of the case does not reveal medical malpractice. Post-mortem diagnoses of thyroid disorders in cases of sudden death can be challenging. However, as the reported case illustrates, the diagnosis could be established after a detailed evaluation of antemortem clinical data, autopsy results, histology, and a toxicological examination.
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(This article belongs to the Special Issue Forensic Diagnosis)
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Open AccessCase Report
Obscure Bleeding from a Metastatic Small Bowel Tumor Diagnosed Using Motorized Spiral Enteroscopy: A Case Study and a Literature Review
by
Christian Banciu, Andreea Munteanu, Adrian Aprotosoaie, Ramona Fabian, Amadeus Dobrescu, Adrian Vaduva, Antonio Fabian, Irina Soica, Viviana Ivan and Laurentiu Sima
Diagnostics 2024, 14(9), 904; https://doi.org/10.3390/diagnostics14090904 (registering DOI) - 26 Apr 2024
Abstract
Small bowel tumors are relatively rare, representing only around 5% of all gastrointestinal neoplasms, with a progressively increasing incidence. Currently, there are no established guidelines for diagnostic approaches, screening procedures, or management strategies for small bowel tumors. We present here the case of
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Small bowel tumors are relatively rare, representing only around 5% of all gastrointestinal neoplasms, with a progressively increasing incidence. Currently, there are no established guidelines for diagnostic approaches, screening procedures, or management strategies for small bowel tumors. We present here the case of a patient with a rare type of metastatic tumor of the small bowel originating from primary lung adenocarcinoma who presented with abdominal pain, severe iron-deficiency anemia, and melena. The initial investigations, gastroscopy and colonoscopy, failed to identify the bleeding source. The obscure bleeding source and diagnosis were achieved through power motorized spiral enteroscopy (MSE), which allowed the visualization and biopsy of the tumor. Histopathological examination established the presence of a poorly differentiated non-mucinous adenocarcinoma originating from the lung. This case is reported to provide evidence of the efficiency of MSE in the diagnosis of small bowel tumors, with the method providing higher insertion depth in a reduced amount of time.
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(This article belongs to the Section Pathology and Molecular Diagnostics)
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Open AccessArticle
Three-Dimensional Assessment of Upper Airway Volume and Morphology in Patients with Different Sagittal Skeletal Patterns
by
Silvia Izabella Pop, Ana Procopciuc, Bianca Arsintescu, Mihai Mițariu, Loredana Mițariu, Radu Vasile Pop, Diana Cerghizan and Kinga Mária Jánosi
Diagnostics 2024, 14(9), 903; https://doi.org/10.3390/diagnostics14090903 (registering DOI) - 26 Apr 2024
Abstract
Background: The relationship between respiratory function and craniofacial morphology has garnered significant attention due to its implications for upper airway and stomatognathic development. Nasal breathing plays a key role in craniofacial growth and dental positioning. This study investigated upper airway morphology and volume
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Background: The relationship between respiratory function and craniofacial morphology has garnered significant attention due to its implications for upper airway and stomatognathic development. Nasal breathing plays a key role in craniofacial growth and dental positioning. This study investigated upper airway morphology and volume differences among individuals with class I, II, and III skeletal anomalies. Methods: Ninety orthodontic patients’ CBCT scans were analyzed to assess the oropharynx and hypopharynx volumes. Skeletal diagnosis was established based on the cephalometric analysis. Results: A significant volume change in the oropharynx and pharynx was demonstrated when comparing class II with class III anomalies (p = 0.0414, p = 0.0313). The total volume of the pharynx was increased in class III anomalies. The area of the narrowest part of the pharynx (MIN-CSA) significantly decreased in classes I and II compared to class III (p = 0.0289, p = 0.0003). Patients with Angle class III anomalies exhibited higher values in the narrowest pharyngeal segment. Gender differences were significant in pharyngeal volumes and morphologies across malocclusion classes. Conclusions: The narrowest segment of the pharynx had the highest values in patients with Angle class III. The volume of the oropharynx was found to be greater in patients with Angle class III versus patients with Angle class II.
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(This article belongs to the Special Issue Advances in Oral Imaging)
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