Diagnostics

15 pages, 3898 KiB

Open AccessArticle

Cognitive Impairment in Cerebral Small Vessel Disease Is Associated with Corpus Callosum Microstructure Changes Based on Diffusion MRI

by Larisa A. Dobrynina, Elena I. Kremneva, Kamila V. Shamtieva, Anastasia A. Geints, Alexey S. Filatov, Zukhra Sh. Gadzhieva, Elena V. Gnedovskaya, Marina V. Krotenkova and Ivan I. Maximov

Diagnostics 2024, 14(16), 1838; https://doi.org/10.3390/diagnostics14161838 - 22 Aug 2024

Viewed by 750

Abstract

The cerebral small vessel disease (cSVD) is one of the main causes of vascular and mixed cognitive impairment (CI), and it is associated, in particular, with brain ageing. An understanding of structural tissue changes in an intact cerebral white matter in cSVD might [...] Read more.

The cerebral small vessel disease (cSVD) is one of the main causes of vascular and mixed cognitive impairment (CI), and it is associated, in particular, with brain ageing. An understanding of structural tissue changes in an intact cerebral white matter in cSVD might allow one to develop the sensitive biomarkers for early diagnosis and monitoring of disease progression. Purpose of the study: to evaluate microstructural changes in the corpus callosum (CC) using diffusion MRI (D-MRI) approaches in cSVD patients with different severity of CI and reveal the most sensitive correlations of diffusion metrics with CI. Methods: the study included 166 cSVD patients (51.8% women; 60.4 ± 7.6 years) and 44 healthy volunteers (65.9% women; 59.6 ± 6.8 years). All subjects underwent D-MRI (3T) with signal (diffusion tensor and kurtosis) and biophysical (neurite orientation dispersion and density imaging, NODDI, white matter tract integrity, WMTI, multicompartment spherical mean technique, MC-SMT) modeling in three CC segments as well as a neuropsychological assessment. Results: in cSVD patients, microstructural changes were found in all CC segments already at the subjective CI stage, which was found to worsen into mild CI and dementia. More pronounced changes were observed in the forceps minor. Among the signal models FA, MD, MK, RD, and RK, as well as among the biophysical models, MC-SMT (EMD, ETR) and WMTI (AWF) metrics exhibited the largest area under the curve (>0.85), characterizing the loss of microstructural integrity, the severity of potential demyelination, and the proportion of intra-axonal water, respectively. Conclusion: the study reveals the relevance of advanced D-MRI approaches for the assessment of brain tissue changes in cSVD. The identified diffusion biomarkers could be used for the clarification and observation of CI progression. Full article

(This article belongs to the Special Issue Advances in the Diagnosis of Nervous System Diseases—2nd Edition)

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9 pages, 1321 KiB

Open AccessArticle

AI Digital Pathology Using qFibrosis Shows Heterogeneity of Fibrosis Regression in Patients with Chronic Hepatitis B and C with Viral Response

by Feng Liu, Yameng Sun, Dean Tai, Yayun Ren, Elaine L. K. Chng, Aileen Wee, Pierre Bedossa, Rui Huang, Jian Wang, Lai Wei, Hong You and Huiying Rao

Diagnostics 2024, 14(16), 1837; https://doi.org/10.3390/diagnostics14161837 - 22 Aug 2024

Viewed by 865

Abstract

This study aimed to understand the dynamic changes in fibrosis and its relationship with the evaluation of post-treatment viral hepatitis using qFibrosis. A total of 158 paired pre- and post-treatment liver samples from patients with chronic hepatitis B (CHB; n = 100) and [...] Read more.

This study aimed to understand the dynamic changes in fibrosis and its relationship with the evaluation of post-treatment viral hepatitis using qFibrosis. A total of 158 paired pre- and post-treatment liver samples from patients with chronic hepatitis B (CHB; n = 100) and C (CHC; n = 58) were examined. qFibrosis was employed with artificial intelligence (AI) to analyze the fibrosis dynamics in the portal tract (PT), periportal (PP), midzonal, pericentral, and central vein (CV) regions. All patients with CHB achieved a virological response after 78 weeks of treatment, whereas patients with CHC achieved a sustained viral response after 24 weeks. For patients initially staged as F5/6 (Ishak system) at baseline, the post-treatment cases exhibited a significant reduction in the collagen proportionate area (CPA) (25–69%) and number of collagen strings (#string) (9–72%) across all regions. In contrast, those initially staged as F3/4 at baseline showed a similar CPA and #string trend at 24 weeks. For regression patients, 27 parameters (25 in the CV region) in patients staged as F3/4 and 15 parameters (three in the PT and 12 in the PP regions) in those staged as F5/6 showed significant differences between the CHB and CHC groups at baseline. Following successful antiviral treatment, the pre- and post-treatment liver samples provided quantitative evidence of the heterogeneity of fibrotic features. qFibrosis has the potential to provide new insights into the characteristics of fibrosis regression in both patients with CHB and CHC as early as 24 weeks after antiviral therapy. Full article

(This article belongs to the Special Issue Hepatocellular Carcinoma and Hepatitis: Advanced Diagnosis and Management)

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10 pages, 716 KiB

Open AccessArticle

Prognostic Value of Dynamic Segmented Neutrophil to Monocyte (SeMo) Ratio Changes in Patients with Moderate to Severe Traumatic Brain Injury

by Lin Chang, Yu-Jun Lin, Ching-Hua Tsai, Cheng-Shyuan Rau, Shiun-Yuan Hsu and Ching-Hua Hsieh

Diagnostics 2024, 14(16), 1836; https://doi.org/10.3390/diagnostics14161836 - 22 Aug 2024

Viewed by 620

Abstract

Background: Traumatic brain injury (TBI) is a leading cause of morbidity and mortality in trauma patients, necessitating reliable prognostic tools. The segmented neutrophil-to-monocyte (SeMo) ratio, indicative of the inflammatory response, has emerged as a valuable biomarker. This study evaluates the prognostic value of [...] Read more.

Background: Traumatic brain injury (TBI) is a leading cause of morbidity and mortality in trauma patients, necessitating reliable prognostic tools. The segmented neutrophil-to-monocyte (SeMo) ratio, indicative of the inflammatory response, has emerged as a valuable biomarker. This study evaluates the prognostic value of dynamic changes in the SeMo ratio in predicting outcomes for patients with moderate to severe TBI. Methods: A retrospective analysis was conducted on data from 1118 TBI patients admitted to the surgical intensive care unit at a level I trauma center between January 2009 and December 2020. Patients were selected based on an Abbreviated Injury Scale (AIS) score ≥ 3 in the head region. Initial and follow-up SeMo ratios were calculated upon admission and 48–72 h later, respectively. The dynamic SeMo ratio was defined as the difference between the second and initial SeMo ratios. Statistical analyses included receiver operating characteristic (ROC) curve analysis to determine the optimal threshold for mortality prediction, and comparative analysis of clinical outcomes. Results: The study cohort included 121 deceased and 997 surviving patients. Deceased patients had significantly higher second SeMo ratios (20.9 ± 16.1 vs. 15.8 ± 17.2, p = 0.001) and dynamic SeMo ratios (2.4 ± 19.8 vs. −2.1 ± 19.5, p = 0.019) than those survival patients. In the multivariate analysis, the dynamic SeMo is a significant independent risk factor for in-hospital mortality (OR 1.01, 95%CI: 1.01–1.03, p = 0.031). The optimal cut-off for the dynamic SeMo ratio was 5.96, above which patients exhibited higher mortality (21.4% vs. 8.5%, p < 0.001), higher adjusted mortality (adjusted odds ratio: 2.98; 95% confidence interval: 1.95–4.56; p = 0.005), and longer hospital stays (23.6 days vs. 19.7 days, p = 0.005). Discussion: Dynamic SeMo ratio changes serve as a prognostic marker for in-hospital mortality and hospital stay duration in moderate to severe TBI patients. A higher dynamic SeMo ratio indicates increased risk, highlighting the importance of early monitoring and intervention. Future prospective studies should validate these findings and explore integration with other biomarkers for enhanced prognostication. Full article

(This article belongs to the Section Clinical Laboratory Medicine)

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16 pages, 929 KiB

Open AccessReview

Enhancing the Clinical Utility of Radiomics: Addressing the Challenges of Repeatability and Reproducibility in CT and MRI

by Xinzhi Teng, Yongqiang Wang, Alexander James Nicol, Jerry Chi Fung Ching, Edwin Ka Yiu Wong, Kenneth Tsz Chun Lam, Jiang Zhang, Shara Wee-Yee Lee and Jing Cai

Diagnostics 2024, 14(16), 1835; https://doi.org/10.3390/diagnostics14161835 - 22 Aug 2024

Cited by 1 | Viewed by 826

Abstract

Radiomics, which integrates the comprehensive characterization of imaging phenotypes with machine learning algorithms, is increasingly recognized for its potential in the diagnosis and prognosis of oncological conditions. However, the repeatability and reproducibility of radiomic features are critical challenges that hinder their widespread clinical [...] Read more.

Radiomics, which integrates the comprehensive characterization of imaging phenotypes with machine learning algorithms, is increasingly recognized for its potential in the diagnosis and prognosis of oncological conditions. However, the repeatability and reproducibility of radiomic features are critical challenges that hinder their widespread clinical adoption. This review aims to address the paucity of discussion regarding the factors that influence the reproducibility and repeatability of radiomic features and their subsequent impact on the application of radiomic models. We provide a synthesis of the literature on the repeatability and reproducibility of CT/MR-based radiomic features, examining sources of variation, the number of reproducible features, and the availability of individual feature repeatability indices. We differentiate sources of variation into random effects, which are challenging to control but can be quantified through simulation methods such as perturbation, and biases, which arise from scanner variability and inter-reader differences and can significantly affect the generalizability of radiomic model performance in diverse settings. Four suggestions for repeatability and reproducibility studies are suggested: (1) detailed reporting of variation sources, (2) transparent disclosure of calculation parameters, (3) careful selection of suitable reliability indices, and (4) comprehensive reporting of reliability metrics. This review underscores the importance of random effects in feature selection and harmonizing biases between development and clinical application settings to facilitate the successful translation of radiomic models from research to clinical practice. Full article

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

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12 pages, 1282 KiB

Open AccessArticle

Lipidomic Signature of Plasma and Synovial Fluid in Patients with Osteoarthritis: Putative Biomarkers Determined by UHPLC-QTOF-ESI+MS

by Stefan Iulian Stanciugelu, Jenel Marian Patrascu, Jenel Marian Patrascu, Jr., Carmen Socaciu, Andreea Iulia Socaciu, Diana Nitusca and Catalin Marian

Diagnostics 2024, 14(16), 1834; https://doi.org/10.3390/diagnostics14161834 - 22 Aug 2024

Viewed by 749

Abstract

Background: Osteoarthritis (OA) is a prevalent joint condition causing pain and disability, especially in the elderly. Currently, OA diagnosis relies on clinical data and imaging, but recent interest in metabolomics suggests that early biochemical changes in biofluids, particularly synovial fluid (SF), could enable [...] Read more.

Background: Osteoarthritis (OA) is a prevalent joint condition causing pain and disability, especially in the elderly. Currently, OA diagnosis relies on clinical data and imaging, but recent interest in metabolomics suggests that early biochemical changes in biofluids, particularly synovial fluid (SF), could enable an earlier diagnosis and understanding of the disease. Methods: In this regard, we conducted a lipidomics study in 33 plasma and SF samples from OA patients and 20 OA-free controls to assess the diagnostic value of various lipid metabolites, using UHPLC-QTOF-ESI+MS. Results: In plasma samples, 25 metabolites had area-under-the-curve (AUC) values higher than 0.9, suggesting a very good diagnostic potential for phosphatidic acid PA (16:0/16:0), PA (34:0), phosphatidylethanolamine PE (34:2), glucosylceramide, phosphatidylcholine PC (32:1), and other metabolites while in SF 20, metabolites had AUC values higher than 0.8, the vast majority belonging to lipid metabolism as well. Conclusions: Although the results align with the previous literature, larger cohort studies are necessary to confirm the diagnostic value of the lipid metabolites. Full article

(This article belongs to the Special Issue Liquid Chromatography–Mass Spectrometry (LC-MS) in the Clinical Laboratory)

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11 pages, 9728 KiB

Open AccessArticle

Artefacts in Hysterectomies with a Special Focus on Vascular Pseudoinvasion

by Sami Dagher, Mousa Mobarki, Celine Chauleur, Alexandra Papoudou-Bai, Michel Péoc’h and Georgia Karpathiou

Diagnostics 2024, 14(16), 1833; https://doi.org/10.3390/diagnostics14161833 - 22 Aug 2024

Viewed by 513

Abstract

Background: Since the advent of laparoscopic hysterectomy, several studies have described artefacts, such as vascular pseudoinvasion, constituting potential pitfalls in the histological evaluation of these specimens. The use of an intrauterine manipulator is often suggested as the factor creating these artefacts. Objectives: To [...] Read more.

Background: Since the advent of laparoscopic hysterectomy, several studies have described artefacts, such as vascular pseudoinvasion, constituting potential pitfalls in the histological evaluation of these specimens. The use of an intrauterine manipulator is often suggested as the factor creating these artefacts. Objectives: To describe possible artefacts, such as vascular pseudoinvasion, myometrial clefts, and tumor cells in the lumen of the cervix, on the serosa, and in the tubal lumen, and to correlate them with clinical and pathological characteristics. Material and Methods: This is a retrospective monocentric study of 60 patients having been treated for benign (n = 27, 45%) or malignant (n = 33, 55%) uterine pathologies. Results: Vascular pseudoinvasion was found in 13 (22%) adenocarcinomas and in one (2%) benign uterine pathology. Clefts within the myometrium were observed in 16 (27%) uteri. Cells in the tubal lumen were observed in six (10%) hysterectomies. True vascular emboli were not correlated with the use of an intrauterine manipulator (p = 0.47) or the type of surgery (p = 0.21). Vascular pseudoinvasion was correlated with the presence of tumor cells in the lumen of the cervix (p = 0.013) and the presence of clefts in the myometrium (p < 0.001), but not with the other factors studied. Conclusions: Overall, in our series, we did not observe any statistical association between the use of an intrauterine manipulator and the presence of true emboli or vascular pseudoinvasion during hysterectomy in women with malignant or benign uterine pathologies. Vascular pseudoinvasion was also associated with the presence of other artefacts. Full article

(This article belongs to the Special Issue Pathology and Diagnosis of Gynecologic Diseases, 2nd Edition)

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11 pages, 3094 KiB

Open AccessCase Report

Severe Liver Damage in an Obese Patient: Onset of Celiac Disease or Overlap Syndrome?

by Gabriela Ghiga, Laura Otilia Boca, Elena Cojocaru, Iuliana Magdalena Stârcea, Elena Țarcă, Ana Maria Scurtu, Maria Adriana Mocanu, Ileana Ioniuc, Mihaela Camelia Tîrnovanu and Laura Mihaela Trandafir

Diagnostics 2024, 14(16), 1832; https://doi.org/10.3390/diagnostics14161832 - 22 Aug 2024

Viewed by 787

Abstract

Celiac disease (CeD) is an enteropathy caused by the complex interaction between genetic, environmental, and individual immunological factors. Besides the hallmark of intestinal mucosal damage, CeD is a systemic disorder extending beyond the gastrointestinal tract and impacting various other organs, causing extraintestinal and [...] Read more.

Celiac disease (CeD) is an enteropathy caused by the complex interaction between genetic, environmental, and individual immunological factors. Besides the hallmark of intestinal mucosal damage, CeD is a systemic disorder extending beyond the gastrointestinal tract and impacting various other organs, causing extraintestinal and atypical symptoms. The association between CeD and liver damage has been classified into three main categories: mild and asymptomatic liver injury, autoimmune liver injury, and liver failure. We present a case of severe liver damage with cirrhotic evolution in an obese 12-year-old boy who had been admitted due to generalized jaundice and localized abdominal pain in the right hypochondrium. In the course of investigating the etiology of severe liver disease, toxic, infectious, metabolic, obstructive, and genetic causes were excluded. Despite the patient’s obesity, a diagnosis of CeD was established, and in accordance with autoimmune hepatitis (AIH) criteria, the patient was diagnosed with autoantibody-negative AIH associated to CeD. Full article

(This article belongs to the Special Issue Diagnosis of Liver Disease)

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17 pages, 907 KiB

Open AccessReview

The Possible Associations between Tauopathies and Atherosclerosis, Diabetes Mellitus, Dyslipidemias, Metabolic Syndrome and Niemann–Pick Disease

by Aleksandra Fryncel, Natalia Madetko-Alster, Zuzanna Krępa, Marek Kuch and Piotr Alster

Diagnostics 2024, 14(16), 1831; https://doi.org/10.3390/diagnostics14161831 - 22 Aug 2024

Viewed by 860

Abstract

Clinical evaluation and treatment of tauopathic syndromes remain a challenge. There is a growing interest in theories concerning their possible associations with metabolic diseases. The possible connection between those diseases might be linked with cerebrovascular dysfunction. The endothelial cell damage and impairment of [...] Read more.

Clinical evaluation and treatment of tauopathic syndromes remain a challenge. There is a growing interest in theories concerning their possible associations with metabolic diseases. The possible connection between those diseases might be linked with cerebrovascular dysfunction. The endothelial cell damage and impairment of the blood–brain barrier observed in atherosclerosis or diabetes may play a role in contributing to tauopathic syndrome development. Additionally, the inflammation evoked by pathological metabolic changes may also be involved in this process. Multiple cases indicate the coexistence of metabolic disorders and tauopathic syndromes. These findings suggest that modifying the evolution of metabolic and cerebrovascular diseases may impact the course of neurodegenerative diseases. Obtained data could indicate the possible benefits of introducing routine carotid artery sonography, revascularization operation or antihypertensive medications among patients at high risk for tauopathies. This review has identified this understudied area, which is currently associated with several diseases for which there is no treatment. Due to the pathomechanisms linking metabolic diseases and tauopathies, further investigation of this area of research, including cohort studies, is recommended and may provide new pharmacological perspectives for treatment. Full article

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

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14 pages, 1277 KiB

Open AccessReview

Perivascular Fat: A Novel Risk Factor for Coronary Artery Disease

by Spyridon Simantiris, Aikaterini Pappa, Charalampos Papastamos, Panagiotis Korkonikitas, Charalambos Antoniades, Constantinos Tsioufis and Dimitris Tousoulis

Diagnostics 2024, 14(16), 1830; https://doi.org/10.3390/diagnostics14161830 - 22 Aug 2024

Viewed by 1331

Abstract

Perivascular adipose tissue (PVAT) interacts with the vascular wall and secretes bioactive factors which regulate vascular wall physiology. Vice versa, vascular wall inflammation affects the adjacent PVAT via paracrine signals, which induce cachexia-type morphological changes in perivascular fat. These changes can be quantified [...] Read more.

Perivascular adipose tissue (PVAT) interacts with the vascular wall and secretes bioactive factors which regulate vascular wall physiology. Vice versa, vascular wall inflammation affects the adjacent PVAT via paracrine signals, which induce cachexia-type morphological changes in perivascular fat. These changes can be quantified in pericoronary adipose tissue (PCAT), as an increase in PCAT attenuation in coronary computed tomography angiography images. Fat attenuation index (FAI), a novel imaging biomarker, measures PCAT attenuation around coronary artery segments and is associated with coronary artery disease presence, progression, and plaque instability. Beyond its diagnostic capacity, PCAT attenuation can also ameliorate cardiac risk stratification, thus representing an innovative prognostic biomarker of cardiovascular disease (CVD). However, technical, biological, and anatomical factors are weakly related to PCAT attenuation and cause variation in its measurement. Thus, to integrate FAI, a research tool, into clinical practice, a medical device has been designed to provide FAI values standardized for these factors. In this review, we discuss the interplay of PVAT with the vascular wall, the diagnostic and prognostic value of PCAT attenuation, and its integration as a CVD risk marker in clinical practice. Full article

(This article belongs to the Special Issue Vascular Diagnostic Imaging)

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15 pages, 1223 KiB

Open AccessArticle

Revolutionizing Bladder Health: Artificial-Intelligence-Powered Automatic Measurement of Bladder Volume Using Two-Dimensional Ultrasound

by Evan Avraham Alpert, Daniel David Gold, Deganit Kobliner-Friedman, Michael Wagner and Ziv Dadon

Diagnostics 2024, 14(16), 1829; https://doi.org/10.3390/diagnostics14161829 - 22 Aug 2024

Viewed by 813

Abstract

Introduction: Measuring elevated post-void residual volume is important for diagnosing urinary outflow tract obstruction and cauda equina syndrome. Catheter placement is exact but painful, invasive, and may cause infection, whereas an ultrasound is accurate, painless, and safe. Aim: The purpose of this single-center [...] Read more.

Introduction: Measuring elevated post-void residual volume is important for diagnosing urinary outflow tract obstruction and cauda equina syndrome. Catheter placement is exact but painful, invasive, and may cause infection, whereas an ultrasound is accurate, painless, and safe. Aim: The purpose of this single-center study is to evaluate the accuracy of a module for artificial-intelligence (AI)-based fully automated bladder volume (BV) prospective measurement using two-dimensional ultrasound images, as compared with manual measurement by expert sonographers. Methods: Pairs of transverse and longitudinal bladder images were obtained from patients evaluated in an urgent care clinic. The scans were prospectively analyzed by the automated module using the prolate ellipsoid method. The same examinations were manually measured by a blinded expert sonographer. The two methods were compared using the Pearson correlation, kappa coefficients, and the Bland–Altman method. Results: A total of 111 pairs of transverse and longitudinal views were included. A very strong correlation was found between the manual BV measurements and the AI-based module with r = 0.97 [95% CI: 0.96–0.98]. The specificity and sensitivity for the diagnosis of an elevated post-void residual volume using a threshold ≥200 mL were 1.00 and 0.82, respectively. An almost-perfect agreement between manual and automated methods was obtained (kappa = 0.85). Perfect reproducibility was found for both inter- and intra-observer agreements. Conclusion: This AI-based module provides an accurate automated measurement of the BV based on ultrasound images. This novel method demonstrates a very strong correlation with the gold standard, making it a potentially valuable decision-support tool for non-experts in acute settings. Full article

(This article belongs to the Special Issue The Role of AI in Ultrasound)

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15 pages, 633 KiB

Open AccessReview

The Overlooked Floppy Eyelid Syndrome: From Diagnosis to Medical and Surgical Management

by Anna Scarabosio, Pier Luigi Surico, Luca Patanè, Damiano Tambasco, Francesca Kahale, Marco Zeppieri, Pier Camillo Parodi, Marco Coassin and Antonio Di Zazzo

Diagnostics 2024, 14(16), 1828; https://doi.org/10.3390/diagnostics14161828 - 21 Aug 2024

Viewed by 1024

Abstract

Floppy Eyelid Syndrome (FES) is an underdiagnosed ocular condition characterized by the abnormal laxity of the upper eyelids, often leading to chronic eye irritation and redness. This review provides an in-depth examination of FES, covering its pathophysiology, clinical presentation, and diagnostic and therapeutic [...] Read more.

Floppy Eyelid Syndrome (FES) is an underdiagnosed ocular condition characterized by the abnormal laxity of the upper eyelids, often leading to chronic eye irritation and redness. This review provides an in-depth examination of FES, covering its pathophysiology, clinical presentation, and diagnostic and therapeutic approaches. We discuss the potential etiological factors, including genetic predispositions and associations with ocular and systemic conditions such as obesity, obstructive sleep apnea, keratoconus, and glaucoma. Diagnostic strategies are outlined, emphasizing the importance of thorough clinical examinations and specific tests for an efficacious grading and assessment of FES. Management of FES ranges from conservative medical treatments to surgical interventions for more severe cases and should be driven by a comprehensive and multidisciplinary approach. Herein, we illustrate the practical aspects of diagnosing and managing this condition. This comprehensive review aims to enhance the recognition and treatment of FES, ultimately improving the quality of life for affected patients. Full article

(This article belongs to the Special Issue Diagnosis, Treatment and Management of Eye Diseases, Second Edition)

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17 pages, 1325 KiB

Open AccessReview

Whole-Body SPECT/CT: Protocol Variation and Technical Consideration—A Narrative Review

by Mansour M. Alqahtani

Diagnostics 2024, 14(16), 1827; https://doi.org/10.3390/diagnostics14161827 - 21 Aug 2024

Viewed by 889

Abstract

Introducing a hybrid imaging approach, such as single-photon emission computerized tomography with X-ray computed tomography (SPECT)/CT, improves diagnostic accuracy and patient management. The ongoing advancement of SPECT hardware and software has resulted in the clinical application of novel approaches. For example, whole-body SPECT/CT [...] Read more.

Introducing a hybrid imaging approach, such as single-photon emission computerized tomography with X-ray computed tomography (SPECT)/CT, improves diagnostic accuracy and patient management. The ongoing advancement of SPECT hardware and software has resulted in the clinical application of novel approaches. For example, whole-body SPECT/CT (WB-SPECT/CT) studies cover multiple consecutive bed positions, similar to positron emission tomography-computed tomography (PET/CT). WB-SPECT/CT proves to be a helpful tool for evaluating bone metastases (BM), reducing equivocal findings, and enhancing user confidence, displaying effective performance in contrast to planar bone scintigraphy (PBS). Consequently, it is increasingly utilized and might substitute PBS, which leads to new questions and issues concerning the acquisition protocol, patient imaging time, and workflow process. Therefore, this review highlights various aspects of WB-SPECT/CT acquisition protocols that need to be considered to help understand WB-SPECT/CT workflow processes and optimize imaging protocols. Full article

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

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12 pages, 774 KiB

Open AccessArticle

Polygenic Risk Score (PRS) Combined with NGS Panel Testing Increases Accuracy in Hereditary Breast Cancer Risk Estimation

by Nikolaos Tsoulos, Eirini Papadopoulou, Konstantinos Agiannitopoulos, Dimitrios Grigoriadis, Georgios N. Tsaousis, Dimitra Bouzarelou, Helen Gogas, Theodore Troupis, Vassileios Venizelos, Elena Fountzilas, Maria Theochari, Dimitrios C. Ziogas, Stylianos Giassas, Anna Koumarianou, Athina Christopoulou, George Busby, George Nasioulas and Christos Markopoulos

Diagnostics 2024, 14(16), 1826; https://doi.org/10.3390/diagnostics14161826 - 21 Aug 2024

Viewed by 851

Abstract

Breast cancer (BC) is the most prominent tumor type among women, accounting for 32% of newly diagnosed cancer cases. BC risk factors include inherited germline pathogenic gene variants and family history of disease. However, the etiology of the disease remains occult in most [...] Read more.

Breast cancer (BC) is the most prominent tumor type among women, accounting for 32% of newly diagnosed cancer cases. BC risk factors include inherited germline pathogenic gene variants and family history of disease. However, the etiology of the disease remains occult in most cases. Therefore, in the absence of high-risk factors, a polygenic basis has been suggested to contribute to susceptibility. This information is utilized to calculate the Polygenic Risk Score (PRS) which is indicative of BC risk. This study aimed to evaluate retrospectively the clinical usefulness of PRS integration in BC risk calculation, utilizing a group of patients who have already been diagnosed with BC. The study comprised 105 breast cancer patients with hereditary genetic analysis results obtained by NGS. The selection included all testing results: high-risk gene-positive, intermediate/low-risk gene-positive, and negative. PRS results were obtained from an external laboratory (Allelica). PRS-based BC risk was computed both with and without considering additional risk factors, including gene status and family history. A significantly different PRS percentile distribution consistent with higher BC risk was observed in our cohort compared to the general population. Higher PRS-based BC risks were detected in younger patients and in those with FH of cancers. Among patients with a pathogenic germline variant detected, reduced PRS values were observed, while the BC risk was mainly determined by a monogenic etiology. Upon comprehensive analysis encompassing FH, gene status, and PRS, it was determined that 41.90% (44/105) of the patients demonstrated an elevated susceptibility for BC. Moreover, 63.63% of the patients with FH of BC and without an inherited pathogenic genetic variant detected showed increased BC risk by incorporating the PRS result. Our results indicate a major utility of PRS calculation in women with FH in the absence of a monogenic etiology detected by NGS. By combining high-risk strategies, such as inherited disease analysis, with low-risk screening strategies, such as FH and PRS, breast cancer risk stratification can be improved. This would facilitate the development of more effective preventive measures and optimize the allocation of healthcare resources. Full article

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

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12 pages, 1579 KiB

Open AccessCase Report

Concurrent Chronic Exertional Compartment Syndrome and Popliteal Artery Entrapment Syndrome

by Tiffany R. Bellomo, Connie Hsu, Pavan Bolla, Abhisekh Mohapatra and Dana Helice Kotler

Diagnostics 2024, 14(16), 1825; https://doi.org/10.3390/diagnostics14161825 - 21 Aug 2024

Viewed by 755

Abstract

Exertional leg pain occurs with notable frequency among athletes and poses diagnostic challenges to clinicians due to overlapping symptomatology. In this case report, we delineate the clinical presentation of a young collegiate soccer player who endured two years of progressive bilateral exertional calf [...] Read more.

Exertional leg pain occurs with notable frequency among athletes and poses diagnostic challenges to clinicians due to overlapping symptomatology. In this case report, we delineate the clinical presentation of a young collegiate soccer player who endured two years of progressive bilateral exertional calf pain and ankle weakness during athletic activity. The initial assessment yielded a diagnosis of chronic exertional compartment syndrome (CECS), predicated on the results of compartment testing. However, her clinical presentation was suspicious for concurrent type VI popliteal artery entrapment syndrome (PAES), prompting further radiographic testing of magnetic resonance angiography (MRA). MRA revealed severe arterial spasm with plantarflexion bilaterally, corroborating the additional diagnosis of PEAS. Given the worsening symptoms, the patient underwent open popliteal entrapment release of the right leg. Although CECS and PAES are both known phenomena that are observed in collegiate athletes, their co-occurrence is uncommon owing to their different pathophysiological underpinnings. This case underscores the importance for clinicians to be aware that the successful diagnosis of one condition does not exclude the possibility of a secondary, unrelated pathology. This case also highlights the importance of dynamic imaging modalities, including point-of-care ultrasound, dynamic MRA, and dynamic angiogram. Full article

(This article belongs to the Special Issue Recent Advances in the Diagnosis and Prognosis of Sports Injuries)

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19 pages, 800 KiB

Open AccessArticle

Kidney Dysfunction, Hepatic Impairment, and Lipid Metabolism Abnormalities in Patients with Precapillary Pulmonary Hypertension

by Dragos Gabriel Iancu, Andreea Varga, Liviu Cristescu, Robert Adrian Dumbrava, Florin Stoica, Diana Andreea Moldovan, Radu Adrian Suteu and Ioan Tilea

Diagnostics 2024, 14(16), 1824; https://doi.org/10.3390/diagnostics14161824 - 21 Aug 2024

Viewed by 693

Abstract

Background: Pulmonary hypertension (PH) is a global health issue that has profound medical and research implications. Methods: This retrospective study examined changes in renal and liver function, as well as lipid metabolism, over a 12-month period in 49 adult patients with pulmonary arterial [...] Read more.

Background: Pulmonary hypertension (PH) is a global health issue that has profound medical and research implications. Methods: This retrospective study examined changes in renal and liver function, as well as lipid metabolism, over a 12-month period in 49 adult patients with pulmonary arterial hypertension (PAH) and chronic thromboembolic pulmonary hypertension (CTEPH). All cases were admitted, managed, and followed up with in the PH Center, County Emergency Clinical Hospital of Targu Mures, Romania. Results: Kidney dysfunction was observed in 12.24% of cases at baseline, decreasing to 8.16% at 12 months, and CTEPH patients were more affected. In particular, CTEPH patients exhibited an improvement in renal function, confirmed by an increase in their glomerular filtration rates. Hepatic impairment was present in 57.14% of subjects at baseline, declining to 42.86% at 12 months, with significant improvements noted in the PAH group. Lipid metabolic dysregulations were experienced by 22.45% of all patients at baseline, decreasing to 16.33% at 6 months, with a slow elevation to 24.49% at 12 months, but with no statistically significant differences. Pharmacological regimens were adjusted in accordance with the PH groups, a patient’s functional and clinical response, and laboratory tests. Conclusions: Our results demonstrate the multi-organ damage in PH and the importance of individualized treatment approaches. Full article

(This article belongs to the Special Issue New Radiological, Electrocardiographic and Biochemical Cardiovascular Risk Factors in 2024)

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17 pages, 1247 KiB

Open AccessArticle

Clinical Significance of Combined Density and Deep-Learning-Based Texture Analysis for Stratifying the Risk of Short-Term and Long-Term Breast Cancer in Screening

by Bolette Mikela Vilmun, George Napolitano, Andreas Lauritzen, Elsebeth Lynge, Martin Lillholm, Michael Bachmann Nielsen and Ilse Vejborg

Diagnostics 2024, 14(16), 1823; https://doi.org/10.3390/diagnostics14161823 - 21 Aug 2024

Cited by 1 | Viewed by 670

Abstract

Assessing a woman’s risk of breast cancer is important for personalized screening. Mammographic density is a strong risk factor for breast cancer, but parenchymal texture patterns offer additional information which cannot be captured by density. We aimed to combine BI-RADS density score 4th [...] Read more.

Assessing a woman’s risk of breast cancer is important for personalized screening. Mammographic density is a strong risk factor for breast cancer, but parenchymal texture patterns offer additional information which cannot be captured by density. We aimed to combine BI-RADS density score 4th Edition and a deep-learning-based texture score to stratify women in screening and compare rates among the combinations. This retrospective study cohort study included 216,564 women from a Danish populations-based screening program. Baseline mammograms were evaluated using BI-RADS density scores (1–4) and a deep-learning texture risk model, with scores categorized into four quartiles (1–4). The incidence rate ratio (IRR) for screen-detected, interval, and long-term cancer were adjusted for age, year of screening and screening clinic. Compared with subgroup B1-T1, the highest IRR for screen-detected cancer were within the T4 category (3.44 (95% CI: 2.43–4.82)−4.57 (95% CI: 3.66–5.76)). IRR for interval cancer was highest in the BI-RADS 4 category (95% CI: 5.36 (1.77–13.45)−16.94 (95% CI: 9.93–30.15)). IRR for long-term cancer increased both with increasing BI-RADS and increasing texture reaching 5.15 (4.31–6.16) for the combination of B4-T4 compared with B1-T1. Deep-learning-based texture analysis combined with BI-RADS density categories can reveal subgroups with increased rates beyond what density alone can ascertain, suggesting the potential of combining texture and density to improve risk stratification in breast cancer screening. Full article

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

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17 pages, 1795 KiB

Open AccessArticle

Exploring the Influence of IL-8, IL-10, Patient-Reported Pain, and Physical Activity on Endometriosis Severity

by Ionel Daniel Nati, Andrei Malutan, Razvan Ciortea, Mihaela Oancea, Carmen Bucuri, Maria Roman, Cristina Ormindean, Alexandra Gabriela Milon and Dan Mihu

Diagnostics 2024, 14(16), 1822; https://doi.org/10.3390/diagnostics14161822 - 21 Aug 2024

Viewed by 764

Abstract

Endometriosis is known to be a chronic, debilitating disease. The pathophysiological mechanisms of endometriosis development include local chronic inflammation and a certain degree of local immune deficit. We investigated the relationship between the endometriosis severity, IL-8, IL-10, BDNF, VEGF-A serum and tissue levels, [...] Read more.

Endometriosis is known to be a chronic, debilitating disease. The pathophysiological mechanisms of endometriosis development include local chronic inflammation and a certain degree of local immune deficit. We investigated the relationship between the endometriosis severity, IL-8, IL-10, BDNF, VEGF-A serum and tissue levels, patient-related pain, and physical activity in a cohort of 46 patients diagnosed with endometriosis who underwent surgery. The same panel of biomarkers was investigated in a control group of 44 reproductive-aged patients with non-endometriotic gynecological pathology who underwent surgical intervention. Our data show a high statistical significance between tissue expression of IL-8, IL-10, patient-related pain, and the severity of endometriosis. No relationship was identified between serum or tissue levels of VEGF-A and BDNF and the severity of endometriosis. These results validate the presence of local chronic inflammation and immune deficit, thereby creating, alongside other studies in the field, an opportunity for the development of innovative and personalized treatment approaches in endometriosis. Full article

(This article belongs to the Section Clinical Laboratory Medicine)

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20 pages, 5123 KiB

Open AccessSystematic Review

Line-Field Confocal Optical Coherence Tomography: A New Skin Imaging Technique Reproducing a “Virtual Biopsy” with Evolving Clinical Applications in Dermatology

by Simone Cappilli, Andrea Paradisi, Alessandro Di Stefani, Gerardo Palmisano, Luca Pellegrino, Martina D’Onghia, Costantino Ricci, Linda Tognetti, Anna Elisa Verzì, Pietro Rubegni, Veronique Del Marmol, Francesco Lacarrubba, Elisa Cinotti, Mariano Suppa and Ketty Peris

Diagnostics 2024, 14(16), 1821; https://doi.org/10.3390/diagnostics14161821 - 21 Aug 2024

Cited by 2 | Viewed by 1233

Abstract

Background: Line-field confocal optical coherence tomography is a novel technology able to reproduce a “virtual biopsy” of the skin. The aim of this review is to explore the application of line-field confocal optical coherence tomography (LC-OCT) in various skin diseases, covering skin cancers, [...] Read more.

Background: Line-field confocal optical coherence tomography is a novel technology able to reproduce a “virtual biopsy” of the skin. The aim of this review is to explore the application of line-field confocal optical coherence tomography (LC-OCT) in various skin diseases, covering skin cancers, inflammatory and infectious skin diseases, genetic diseases, cosmetic procedures, and less common disorders. Methods: Study selection was conducted based on LC-OCT and using pertinent MeSh terms, following Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines from inception to March 2024; to evaluate the quality and risk of bias of studies, Quality Assessment of Diagnostic Accuracy Studies-2 (QUADAS-2) was used. Results: the search retrieved 154 papers according to the selection criteria; after removing publications by one or more of the exclusion criteria, a total of 96 studies were found to be suitable for the analysis. Conclusions: Increasing evidence supports the use of LC-OCT as an adjunctive diagnostic tool for the in vivo diagnosis of a variety of skin tumors. As this device can be considered a “bridge” between dermoscopy and histopathology, widening applications in numerous fields of clinical dermatology, including inflammatory skin disease treatment, presurgical mapping, cosmetic procedures, and monitoring of non-invasive therapies, have been explored. Full article

(This article belongs to the Special Issue Advanced Role of Optical Coherence Tomography in Clinical Medicine)

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14 pages, 1210 KiB

Open AccessArticle

Objective and Subjective Outcomes Following Radiofrequency of Inferior Turbinates in Patients with Sleep-Disordered Breathing

by Alfonso Luca Pendolino, Samit Unadkat, Ryan Chin Taw Cheong, Ankit Patel, Joshua Ferreira, Bruno Scarpa and Peter J. Andrews

Diagnostics 2024, 14(16), 1820; https://doi.org/10.3390/diagnostics14161820 - 21 Aug 2024

Viewed by 656

Abstract

Background: Nasal obstruction is a frequent problem amongst patients with sleep-disordered breathing (SDB). Radiofrequency of the inferior turbinates (RFIT) is commonly utilized for inferior turbinate (IT) reduction but its effectiveness in SDB patients remains unproven. We aim to evaluate long-term objective and subjective [...] Read more.

Background: Nasal obstruction is a frequent problem amongst patients with sleep-disordered breathing (SDB). Radiofrequency of the inferior turbinates (RFIT) is commonly utilized for inferior turbinate (IT) reduction but its effectiveness in SDB patients remains unproven. We aim to evaluate long-term objective and subjective nasal, olfactory and sleep outcomes following RFIT in SDB patients. Methods: Patients were assessed at baseline (T0) and at 3 months (T1), 6 months (T2) and 12 months (T3) following RFIT. At T0, T1, T2 and T3, the patients underwent objective assessments of their nasal airways and smell function and an evaluation of their quality-of-life, sinonasal, olfactory and sleep symptoms. Sleep studies were carried out at T0 and T2. Results: Seventeen patients (with a median age of 42 years) underwent RFIT. A statistically significant objective and subjective improvement of the patients’ nasal airways was demonstrated at T1. No other statistically significant changes were observed in the patients’ nasal airways, smell, sleep study parameters or patient-reported outcomes at the other follow-ups. A multivariate analysis confirmed a statistically significant influence of age (older), sex (male), a higher BMI, the presence of septal deviation and the presence of allergic rhinitis in some of the studies’ parameters. A statistically significant objective and subjective improvement of the patients’ nasal airways was confirmed in the fitted model when considering the influence of the available variables. Conclusions: Our study confirms that the benefits of RFIT alone in SDB patients are limited and possibly only in the short-term period. Patient-related variables can potentially influence the final outcomes. Full article

(This article belongs to the Special Issue Advances in Diagnosis and Management of Sinonasal Disorders)

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10 pages, 1133 KiB

Open AccessReview

Comparison of Current International Guidelines on Premature Ejaculation: 2024 Update

by Lorenzo Romano, Davide Arcaniolo, Lorenzo Spirito, Carmelo Quattrone, Francesco Bottone, Savio Domenico Pandolfo, Biagio Barone, Luigi Napolitano, Francesco Ditonno, Antonio Franco, Felice Crocetto, Javier Romero-Otero, Riccardo Autorino, Marco De Sio and Celeste Manfredi

Diagnostics 2024, 14(16), 1819; https://doi.org/10.3390/diagnostics14161819 - 21 Aug 2024

Viewed by 1460

Abstract

Premature ejaculation (PE) is a common male sexual dysfunction that can cause significant distress in the patient and partner. This study aimed to compare the current international guidelines on PE to highlight their similarities and differences. We examined the latest guidelines from the [...] Read more.

Premature ejaculation (PE) is a common male sexual dysfunction that can cause significant distress in the patient and partner. This study aimed to compare the current international guidelines on PE to highlight their similarities and differences. We examined the latest guidelines from the European Association of Urology (EAU), American Urological Association/Sexual Medicine Society of North America (AUA/SMSNA), and International Society of Sexual Medicine (ISSM) by comparing definitions, classifications, epidemiology, pathophysiology, and recommendations on diagnosis and therapy. The quality of guidelines was assessed using the Appraisal of Guidelines for Research and Evaluation (AGREE) Global Rating Scale (GRS). We found significant variations in the definitions of PE and recommendations on management of patients. The EAU guidelines were the most recent, the AUA/SMSNA guidelines lacked detail in some areas, and the ISSM guidelines were the most complete but also the least updated. The search for a unified definition and the development of standardized diagnostic and therapeutic pathways remain concrete issues to improve the management of patients with PE worldwide. Full article

(This article belongs to the Special Issue Diagnosis and Management of Andrological Diseases)

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9 pages, 5962 KiB

Open AccessBrief Report

Quantitative Measurement of Rotation in Phalangeal Fracture Malunion Using Computed Tomography Imaging—“Linkage Simulation”

by Hidemasa Yoneda, Katsuyuki Iwatsuki, Masaomi Saeki, Atsuhiko Murayama, Nobunori Takahashi, Michiro Yamamoto and Hitoshi Hirata

Diagnostics 2024, 14(16), 1818; https://doi.org/10.3390/diagnostics14161818 - 21 Aug 2024

Viewed by 563

Abstract

Malunion of thumb and finger fractures causes problems in the cosmetic and functional aspects of the hand. Malunion of phalangeal fractures usually manifests as a combination of rotational deformities in the coronal, sagittal, and transverse planes, and corrective osteotomy is performed on the [...] Read more.

Malunion of thumb and finger fractures causes problems in the cosmetic and functional aspects of the hand. Malunion of phalangeal fractures usually manifests as a combination of rotational deformities in the coronal, sagittal, and transverse planes, and corrective osteotomy is performed on the planes that cause these problems. Quantification of the deformity is essential for precise osteotomy and is difficult to perform in the transverse plane, even with radiography or computed tomography. Thus, we developed a technique called linkage simulation for the quantitative measurement of rotational deformities for surgical planning. In this procedure, finger extension and flexion can be simulated based on the predicted rotational axis of the joint, which is useful for determining the appropriate correction. Furthermore, by performing a reduction simulation in the software, it is possible to simulate the surgery and predict the postoperative results. This paper reports the details of this technique. Full article

(This article belongs to the Special Issue Advances in Human Anatomy)

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16 pages, 18959 KiB

Open AccessReview

Contrast-Enhanced Sonography of the Liver: How to Avoid Artifacts

by Hiroko Naganuma, Hideaki Ishida, Hiroshi Nagai and Atushi Uno

Diagnostics 2024, 14(16), 1817; https://doi.org/10.3390/diagnostics14161817 - 20 Aug 2024

Viewed by 487

Abstract

Contrast-enhanced sonography (CEUS) is a very important diagnostic imaging tool in clinical settings. However, it is associated with possible artifacts, such as B-mode US-related artifacts. Sufficient knowledge of US physics and these artifacts is indispensable to avoid the misinterpretation of CEUS images. This [...] Read more.

Contrast-enhanced sonography (CEUS) is a very important diagnostic imaging tool in clinical settings. However, it is associated with possible artifacts, such as B-mode US-related artifacts. Sufficient knowledge of US physics and these artifacts is indispensable to avoid the misinterpretation of CEUS images. This review aims to explain the basic physics of CEUS and the associated artifacts and to provide some examples to avoid them. This review includes problems related to the frame rate, scanning modes, and various artifacts encountered in daily CEUS examinations. Artifacts in CEUS can be divided into two groups: (1) B-mode US-related artifacts, which form the background of the CEUS image, and (2) artifacts that are specifically related to the CEUS method. The former includes refraction, reflection, reverberation (multiple reflections), attenuation, mirror image, and range-ambiguity artifacts. In the former case, the knowledge of B-mode US is sufficient to read the displayed artifactual image. Thus, in this group, the most useful artifact avoidance strategy is to use the reference B-mode image, which allows for a simultaneous comparison between the CEUS and B-mode images. In the latter case, CEUS-specific artifacts include microbubble destruction artifacts, prolonged heterogeneous accumulation artifacts, and CEUS-related posterior echo enhancement; these require an understanding of the mechanism of their appearance in CEUS images for correct image interpretation. Thus, in this group, the most useful artifact avoidance strategy is to confirm the phenomenon’s instability by changing the examination conditions, including the frequency, depth, and other parameters. Full article

(This article belongs to the Special Issue Ultrasound Technologies in Clinical Medicine: Recent Advances in Gastroenterology)

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23 pages, 6515 KiB

Open AccessReview

Clinical Applications of Cardiac Magnetic Resonance Parametric Mapping

by Daniele Muser, Anwar A. Chahal, Joseph B. Selvanayagam and Gaetano Nucifora

Diagnostics 2024, 14(16), 1816; https://doi.org/10.3390/diagnostics14161816 - 20 Aug 2024

Cited by 1 | Viewed by 815

Abstract

Cardiovascular magnetic resonance (CMR) imaging is widely regarded as the gold-standard technique for myocardial tissue characterization, allowing for the detection of structural abnormalities such as myocardial fatty replacement, myocardial edema, myocardial necrosis, and/or fibrosis. Historically, the identification of abnormal myocardial regions relied on [...] Read more.

Cardiovascular magnetic resonance (CMR) imaging is widely regarded as the gold-standard technique for myocardial tissue characterization, allowing for the detection of structural abnormalities such as myocardial fatty replacement, myocardial edema, myocardial necrosis, and/or fibrosis. Historically, the identification of abnormal myocardial regions relied on variations in tissue signal intensity, often necessitating the use of exogenous contrast agents. However, over the past two decades, innovative parametric mapping techniques have emerged, enabling the direct quantitative assessment of tissue magnetic resonance (MR) properties on a voxel-by-voxel basis. These mapping techniques offer significant advantages by providing comprehensive and precise information that can be translated into color-coded maps, facilitating the identification of subtle or diffuse myocardial abnormalities. As unlikely conventional methods, these techniques do not require a substantial amount of structurally altered tissue to be visually identifiable as an area of abnormal signal intensity, eliminating the reliance on contrast agents. Moreover, these parametric mapping techniques, such as T1, T2, and T2* mapping, have transitioned from being primarily research tools to becoming valuable assets in the clinical diagnosis and risk stratification of various cardiac disorders. In this review, we aim to elucidate the underlying physical principles of CMR parametric mapping, explore its current clinical applications, address potential pitfalls, and outline future directions for research and development in this field. Full article

(This article belongs to the Special Issue Clinical Applications of Cardiac Magnetic Resonance in Adults and Children 2.0)

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9 pages, 729 KiB

Open AccessBrief Report

Genetic and Phenotypic Spectrum of KMT2D Variants in Taiwanese Case Series of Kabuki Syndrome

by Chung-Lin Lee, Chih-Kuang Chuang, Ming-Ren Chen, Ju-Li Lin, Huei-Ching Chiu, Ya-Hui Chang, Yuan-Rong Tu, Yun-Ting Lo, Hsiang-Yu Lin and Shuan-Pei Lin

Diagnostics 2024, 14(16), 1815; https://doi.org/10.3390/diagnostics14161815 - 20 Aug 2024

Viewed by 1142

Abstract

Kabuki syndrome (KS) is a rare genetic disorder characterized by distinct facial features, intellectual disability, and multiple congenital anomalies. We conducted a comprehensive analysis of the genetic and phenotypic spectrum of KS in a Taiwanese patient group of 23 patients. KMT2D variants were [...] Read more.

Kabuki syndrome (KS) is a rare genetic disorder characterized by distinct facial features, intellectual disability, and multiple congenital anomalies. We conducted a comprehensive analysis of the genetic and phenotypic spectrum of KS in a Taiwanese patient group of 23 patients. KMT2D variants were found in 22 individuals, with missense (26.1%), nonsense (21.7%), and frameshift (17.4%) variants being the most prevalent. One patient had a KMT2D variant of uncertain significance. The most common clinical characteristics included distinct facial features (100%), intellectual disability (100%), developmental delay (95.7%), speech delay (78.3%), hypotonia (69.6%), congenital heart abnormalities (69.6%), and recurrent infections (65.2%). Other abnormalities included hearing loss (39.1%), seizures (26.1%), cleft palate (26.1%), and renal anomalies (21.7%). This study broadens the mutational and phenotypic spectrum of KS in the Taiwanese population, highlighting the importance of comprehensive genetic testing and multidisciplinary clinical evaluations for diagnosis and treatment. Full article

(This article belongs to the Special Issue Insights into Pediatric Genetics)

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12 pages, 3097 KiB

Open AccessArticle

Evaluation of Open-Source Ciliary Analysis Software in Primary Ciliary Dyskinesia: A Comparative Assessment

by Zachary J. Demetriou, José Muñiz-Hernández, Gabriel Rosario-Ortiz, Frances M. Quiñones, Gabriel Gonzalez-Diaz, Marcos J. Ramos-Benitez, Ricardo A. Mosquera and Wilfredo De Jesús-Rojas

Diagnostics 2024, 14(16), 1814; https://doi.org/10.3390/diagnostics14161814 - 20 Aug 2024

Viewed by 704

Abstract

Primary Ciliary Dyskinesia (PCD) is a rare genetic disorder characterized by alterations in motile cilia function. The diagnosis of PCD is challenging due to the lack of standardized methods in clinical practice. High-speed video microscopy analysis (HSVA) directly evaluates ciliary beat frequency (CBF) [...] Read more.

Primary Ciliary Dyskinesia (PCD) is a rare genetic disorder characterized by alterations in motile cilia function. The diagnosis of PCD is challenging due to the lack of standardized methods in clinical practice. High-speed video microscopy analysis (HSVA) directly evaluates ciliary beat frequency (CBF) in PCD. Recently, open-source ciliary analysis software applications have shown promise in measuring CBF accurately. However, there is limited knowledge about the performance of different software applications, creating a gap in understanding their comparative effectiveness in measuring CBF in PCD. We compared two open-source software applications, CiliarMove (v219) and Cilialyzer (v1.2.1-b3098cb), against the manual count method. We used high-speed videos of nasal ciliary brush samples from PCD RSPH4A-positive (PCD (RSPH4A)) patients and healthy controls. All three methods showed lower median CBF values for patients with PCD (RSPH4A) than in healthy controls. CiliarMove and Cilialyzer identified lower CBF in patients with PCD (RSPH4A), similarly to the manual count. Cilialyzer, CiliarMove, and manual count methods demonstrated statistical significance (p-value < 0.0001) in the difference of median CBF values between patients with PCD (RSPH4A) and healthy controls. Correlation coefficients between the manual count values against both software methods demonstrated positive linear relationships. These findings support the utility of open-source software-based analysis tools. Further studies are needed to validate these findings with other genetic variants and identify the optimal software for accurate CBF measurement in patients with PCD. Full article

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

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10 pages, 279 KiB

Open AccessArticle

A Dunnett-Type Test and Its Sample Size Calculation for Comparing K ROC Curves with a Control

by Sin-Ho Jung

Diagnostics 2024, 14(16), 1813; https://doi.org/10.3390/diagnostics14161813 - 20 Aug 2024

Viewed by 713

Abstract

Diagnostic biomarkers are key components of diagnostics. In this paper, we consider diagnostic biomarkers taking continuous values that are associated with a dichotomous disease status, called malignant or benign. The performance of such a biomarker is evaluated by the area under the curve [...] Read more.

Diagnostic biomarkers are key components of diagnostics. In this paper, we consider diagnostic biomarkers taking continuous values that are associated with a dichotomous disease status, called malignant or benign. The performance of such a biomarker is evaluated by the area under the curve (AUC) of its receiver operating characteristic curve. We assume that, together with the disease status, one control and multiple experimental biomarkers are collected from each subject to test if any of the experimental biomarkers have a larger AUC than the control. In this case, each experimental biomarker will be compared with the control so that a multiple testing issue is involved in the comparisons. In this paper, we propose a simple non-parametric statistical testing procedure to compare

K (\geq

2) experimental biomarkers with a control, adjusting for the multiplicity and its sample size calculation method. Our sample size formula requires the specification of the AUC values (or the standardized effect size of each biomarker between the benign and malignant groups) together with the correlation coefficients between the biomarkers, the prevalence of the malignant group in the study population, the type I error rate, and the power. Through simulations, we show that the statistical test controls the overall type I error rate accurately and the proposed sample size closely maintains the specified statistical power. Full article

(This article belongs to the Special Issue Recent Advancements of Molecular Biomarkers in Cancer)

16 pages, 27101 KiB

Open AccessArticle

Separating Surface Reflectance from Volume Reflectance in Medical Hyperspectral Imaging

by Lynn-Jade S. Jong, Anouk L. Post, Freija Geldof, Behdad Dashtbozorg, Theo J. M. Ruers and Henricus J. C. M. Sterenborg

Diagnostics 2024, 14(16), 1812; https://doi.org/10.3390/diagnostics14161812 - 20 Aug 2024

Viewed by 842

Abstract

Hyperspectral imaging has shown great promise for diagnostic applications, particularly in cancer surgery. However, non-bulk tissue-related spectral variations complicate the data analysis. Common techniques, such as standard normal variate normalization, often lead to a loss of amplitude and scattering information. This study investigates [...] Read more.

Hyperspectral imaging has shown great promise for diagnostic applications, particularly in cancer surgery. However, non-bulk tissue-related spectral variations complicate the data analysis. Common techniques, such as standard normal variate normalization, often lead to a loss of amplitude and scattering information. This study investigates a novel approach to address these spectral variations in hyperspectral images of optical phantoms and excised human breast tissue. Our method separates surface and volume reflectance, hypothesizing that spectral variability arises from significant variations in surface reflectance across pixels. An illumination setup was developed to measure samples with a hyperspectral camera from different axial positions but with identical zenith angles. This configuration, combined with a novel data analysis approach, allows for the estimation and separation of surface reflectance for each direction and volume reflectance across all directions. Validated with optical phantoms, our method achieved an 83% reduction in spectral variability. Its functionality was further demonstrated in excised human breast tissue. Our method effectively addresses variations caused by surface reflectance or glare while conserving surface reflectance information, which may enhance sample analysis and evaluation. It benefits samples with unknown refractive index spectra and can be easily adapted and applied across a wide range of fields where hyperspectral imaging is used. Full article

(This article belongs to the Special Issue Optical Imaging: Trends, Impact, and Application in Medical and Biomedical Diagnostics)

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10 pages, 1311 KiB

Open AccessArticle

The Predictive Accuracy of Anogenital Distance and Genital Tubercle Angle for First-Trimester Fetal Sex Determination

by Abdulrahman M. Alfuraih, Bashaier Mansour Almajem and Amal Abdullah Alsolai

Diagnostics 2024, 14(16), 1811; https://doi.org/10.3390/diagnostics14161811 - 20 Aug 2024

Viewed by 1234

Abstract

Background: Early identification of fetal gender is crucial for managing gender-linked genetic disorders. This study aimed to evaluate the predictive performance of anogenital distance (AGD) and genital tubercle angle (GTA) for fetal sex determination during the first trimester. Methods: A multicenter retrospective cohort [...] Read more.

Background: Early identification of fetal gender is crucial for managing gender-linked genetic disorders. This study aimed to evaluate the predictive performance of anogenital distance (AGD) and genital tubercle angle (GTA) for fetal sex determination during the first trimester. Methods: A multicenter retrospective cohort study was conducted on 312 fetal cases between 11 and 13 + 6 weeks of gestation from two tertiary hospitals. AGD and GTA measurements were taken from midsagittal plane images using ultrasound, with intra- and inter-reader reproducibility assessed. Binomial logistic regression and ROC curve analysis were employed to determine the diagnostic performance and optimal cutoff points. Results: AGD had a mean of 7.16 mm in male fetuses and 4.42 mm in female fetuses, with a sensitivity of 88.8%, specificity of 94.4%, and an area under the ROC curve (AUC) of 0.931 (95% CI: 0.899–0.962) using 5.74 mm as a cutoff point. For GTA, the mean was 35.90 degrees in males and 21.57 degrees in females, with a sensitivity of 92%, specificity of 84.7%, and an AUC of 0.932 (95% CI: 0.904–0.961) using 28.32 degrees as a cutoff point. The reproducibility results were excellent for AGD (intra-operator ICC = 0.938, inter-operator ICC = 0.871) and moderate for GTA (intra-operator ICC = 0.895, inter-operator ICC = 0.695). Conclusions: The findings suggest that AGD and GTA are reliable markers for early fetal sex determination, with AGD showing higher reproducibility. The findings highlight the feasibility and accuracy of these non-invasive sonographic markers and their potential usefulness in guiding timely interventions and enhancing the management of gender-linked genetic conditions. Full article

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

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14 pages, 5880 KiB

Open AccessArticle

Higher Accuracy of Arthroscopy Compared to MRI in the Diagnosis of Chondral Lesions in Acute Ankle Fractures: A Prospective Study

by Ali Darwich, Dominik Nörenberg, Julia Adam, Svetlana Hetjens, Mohamad Bdeir, Andreas Schilder, Steffen Thier, Sascha Gravius and Ahmed Jawhar

Diagnostics 2024, 14(16), 1810; https://doi.org/10.3390/diagnostics14161810 - 20 Aug 2024

Viewed by 611

Abstract

Even after successful surgery for acute ankle fractures, many patients continue having complaints. A possible explanation is the presence of concomitant chondral lesions. The aim of this study is to investigate the accuracy of MRI compared to that of arthroscopy in the assessment [...] Read more.

Even after successful surgery for acute ankle fractures, many patients continue having complaints. A possible explanation is the presence of concomitant chondral lesions. The aim of this study is to investigate the accuracy of MRI compared to that of arthroscopy in the assessment of chondral lesions in acute ankle fractures. In this prospective single-center study, patients presenting with acute ankle fractures over a period of three years were identified. A preoperative MRI was performed within a maximum of 10 days after trauma. During surgery, ankle arthroscopy was also performed. The International Cartilage Repair Society (ICRS) cartilage lesion classification was used to grade the detected chondral lesions. To localize the chondral lesions, the talar dome was divided into eight zones and the tibial/fibular articular surfaces into three zones. In total, 65 patients (28 females) with a mean age of 41.1 ± 15 years were included. In the MRI scans, 70 chondral lesions were detected (69.2% of patients) affecting mostly the tibial plafond (30%) and mostly graded as ICRS 3. The mean lesion area measured was 20.8 mm². In the arthroscopy, 85 chondral lesions were detected (70.8% of patients) affecting mostly the medial surface of the talar dome (25.9%) and mostly graded ICRS 3. The mean lesion area measured was 43.4 mm². The highest agreement between the two methods was observed in the size estimation of the chondral lesions. The present study shows the reduced accuracy of MRI when compared to arthroscopy in the assessment of traumatic chondral lesions in the setting of acute ankle fractures especially regarding lesion size. MRI remains an essential instrument in the evaluation of such lesions; however, surgeons should take this discrepancy into consideration, particularly the underestimation of chondral lesions’ size in the preoperative planning of surgical treatment and operative technique. Full article

(This article belongs to the Special Issue Novel Technologies in Orthopedic Surgery: Diagnosis and Management)

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9 pages, 724 KiB

Open AccessArticle

Diagnostic Performance of Preoperative Calcitonin and Procalcitonin Tests for Differential Diagnosis of Medullary Thyroid Cancer

by Il Youb Jeong, Hyeok Jun Yun, Seok-Mo Kim and Yongjung Park

Diagnostics 2024, 14(16), 1809; https://doi.org/10.3390/diagnostics14161809 - 20 Aug 2024

Viewed by 772

Abstract

Medullary thyroid cancer (MTC) shows a relatively poor prognosis among thyroid cancers. Though calcitonin has been used as a diagnostic marker for MTC, it has disadvantages including poor sample stability and discrepancies among results by assay. This study aimed to compare the usefulness [...] Read more.

Medullary thyroid cancer (MTC) shows a relatively poor prognosis among thyroid cancers. Though calcitonin has been used as a diagnostic marker for MTC, it has disadvantages including poor sample stability and discrepancies among results by assay. This study aimed to compare the usefulness of preoperative calcitonin and procalcitonin (PCT) in the diagnosis of MTC. Serum calcitonin and PCT levels were measured before thyroidectomy from MTC (n = 23) and other types of thyroid cancers in patients (n = 1308). Diagnostic performances of calcitonin and PCT for discerning MTC were estimated. In a multivariate analysis, preoperative calcitonin level was independently associated with the diagnosis of MTC, whereas PCT was not. Calcitonin and PCT, respectively, exhibited area under the curve values of 0.997 and 0.979 for the diagnosis of MTC, without significant differences. For calcitonin, the sensitivity, specificity, and positive and negative predictive values were 0.957, 0.992, 0.688, and 0.999, respectively, at a cut-off of 7.2 pg/mL. The corresponding values for PCT were 0.913, 0.995, 0.778, and 0.998 at a cut-off of 0.19 ng/mL. Preoperative calcitonin and PCT showed similar diagnostic utility for MTC. Depending on the patient’s clinical status and laboratory environment, these tests can be used as complementary methods for detecting MTC. Full article

(This article belongs to the Section Clinical Laboratory Medicine)

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