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Diagnostics, Volume 11, Issue 5 (May 2021) – 180 articles

Cover Story (view full-size image): CBF measurements are of high clinical value and can be acquired non-invasively using ASL MRI. The aim was to compare CBF derived from ASL (CBFASL) and 15O-water PET (CBFPET) acquired simultaneously on a 3T PET/MRI system with arterial blood sampling. A high correlation was found. Bland–Altman analysis revealed poor agreement with a negative relationship; this was accounted for using regression-based limits of agreements. Although a high correlation between CBFASL and CBFPET was found, agreement between CBFASL and CBFPET is not sufficient for ASL to be used interchangeably with 15O-water PET. View this paper
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Article
Morphological Characteristics of the Nasopalatine Canal and the Relationship with the Anterior Maxillary Bone—A Cone Beam Computed Tomography Study
Diagnostics 2021, 11(5), 915; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics11050915 - 20 May 2021
Viewed by 686
Abstract
The aim of this study was to evaluate the interconnection between the type of nasopalatine canal (NPC) and morphometric characteristics of the anterior maxilla. The investigation involved 113 subjects, and the morphometric parameters were obtained using cone beam computed tomography (CBCT). NPC shapes [...] Read more.
The aim of this study was to evaluate the interconnection between the type of nasopalatine canal (NPC) and morphometric characteristics of the anterior maxilla. The investigation involved 113 subjects, and the morphometric parameters were obtained using cone beam computed tomography (CBCT). NPC shapes were classified into four types: banana-, hourglass-, cylindrical-, and funnel-shaped (distribution of approximately 9, 25, 31, and 35%, respectively). The analysis revealed that the NPC shape was significantly connected with the morphometric properties of anterior maxilla horizontal dimensions. In general, a banana-shaped NPC was accompanied with an overall reduction in anterior maxilla diameters when compared to other NPC shapes, with no significant difference between the other three NPC shapes. Furthermore, the morphometric characteristics that depend on NPC shape at the sagittal cross-section were significantly correlated with diameters of the incisive foramen, nasal foramen, and NPC length. According to the results of our study, it seems that the presented analyses of morphometric data may allow useful insight into the algorithms of various interconnections between the measures obtained in the region of the anterior maxilla, which could be of interest for a time rationale approach when planning some surgical procedures, such as immediate dental implant placement planning. Full article
(This article belongs to the Special Issue Advances in Anatomy)
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Article
Outcomes of Esophageal Cancer after Esophagectomy in the Era of Early Injection Laryngoplasty
Diagnostics 2021, 11(5), 914; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics11050914 - 20 May 2021
Viewed by 422
Abstract
(1) Background: severe weight loss was reported to be related to unilateral vocal fold paralysis (UVFP) after esophagectomy and could thus impair survival. Concomitant radical lymph node dissection along the recurrent laryngeal nerve during esophageal cancer surgery is controversial, as it might induce [...] Read more.
(1) Background: severe weight loss was reported to be related to unilateral vocal fold paralysis (UVFP) after esophagectomy and could thus impair survival. Concomitant radical lymph node dissection along the recurrent laryngeal nerve during esophageal cancer surgery is controversial, as it might induce UVFP. Early intervention for esophagectomy-related UVFP by administering intracordal injections of temporal agents has recently become popular. This study investigated the survival outcomes of esophagectomy for esophageal squamous cell carcinoma (ESCC) after the introduction of early injection laryngoplasty (EIL). (2) Methods: a retrospective review of patients with ESCC after curative-intent esophagectomy was conducted in a tertiary referral medical center. The necessity of EIL with hyaluronic acid was comprehensively discussed for all symptomatic UVFP patients. The survival outcomes and related risk factors of ESCC were evaluated. (3) Results: among the cohort of 358 consecutive patients who underwent esophagectomy for ESCC, 42 (11.7%) showed postsurgical UVFP. Twenty-nine of them received office-based EIL. After EIL, the glottal gap area, maximum phonation time and voice outcome survey showed significant improvement at one, three and six months measurements. The number of lymph nodes in the resected specimen was higher in those with UVFP than in those without UVFP (30.1 ± 15.7 vs. 24.6 ± 12.7, p = 0.011). The Kaplan–Meier overall survival was significantly better in patients who had UVFP (p = 0.014), received neck anastomosis (p = 0.004), underwent endoscopic resection (p < 0.001) and had early-stage cancer (p < 0.001). Multivariate Cox logistic regression analysis showed two independent predictors of OS, showing that the primary stage and anastomosis type are the two independent predictors of OS. (4) Conclusion: EIL is effective in improving UVFP-related symptoms, thus providing compensatory and palliative measures to ensure the patient’s postsurgical quality of life. The emerging use of EIL might encourage cancer surgeons to radically dissect lymph nodes along the recurrent laryngeal nerve, thus changing the survival trend. Full article
(This article belongs to the Section Pathology and Molecular Diagnostics)
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Article
Effects of Sex and Age on Fat Fraction, Diffusion-Weighted Image Signal Intensity and Apparent Diffusion Coefficient in the Bone Marrow of Asymptomatic Individuals: A Cross-Sectional Whole-Body MRI Study
Diagnostics 2021, 11(5), 913; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics11050913 - 20 May 2021
Viewed by 456
Abstract
We aimed to describe the relationships between the relative fat fraction (%FF), muscle-normalized diffusion-weighted (DW) image signal intensity and water apparent diffusion coefficient (ADC), sex and age for normal bone marrow, in the normal population. Our retrospective cohort consisted of 100 asymptomatic individuals, [...] Read more.
We aimed to describe the relationships between the relative fat fraction (%FF), muscle-normalized diffusion-weighted (DW) image signal intensity and water apparent diffusion coefficient (ADC), sex and age for normal bone marrow, in the normal population. Our retrospective cohort consisted of 100 asymptomatic individuals, equally divided by sex and 10-year age groups, who underwent whole-body MRI at 1.5 T for early cancer detection. Semi-automated segmentation of global bone marrow volume was performed using the DW images and the resulting segmentation masks were projected onto the ADC and %FF maps for extraction of parameter values. Differences in the parameter values between sexes at age ranges were assessed using the Mann–Whitney and Kruskal–Wallis tests. The Spearman correlation coefficient r was used to assess the relationship of each imaging parameter with age, and of %FF with ADC and normalized DW signal intensity values. The average %FF of normal bone marrow was 65.6 ± 7.2%, while nSIb50, nSIb900 and ADC were 1.7 ± 0.5, 3.2 ± 0.9 and 422 ± 67 μm2/s, respectively. The bone marrow %FF values increased with age in both sexes (r = 0.63 and r = 0.64, respectively, p < 0.001). Values of nSIb50 and nSIb900 were higher in younger women compared to men of the same age groups (p < 0.017), but this difference decreased with age. In our cohort of asymptomatic individuals, the values of bone marrow relative %FF, normalized DW image signal intensity and ADC indicate higher cellularity in premenopausal women, with increasing bone marrow fat with aging in both sexes. Full article
(This article belongs to the Special Issue Whole Body MRI: Major Advances and Future Perspective)
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Article
Survival Rates of Patients with Non-Small Cell Lung Cancer Depending on Lymph Node Metastasis: A Focus on Saliva
Diagnostics 2021, 11(5), 912; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics11050912 - 20 May 2021
Viewed by 367
Abstract
The aim of this study was to compare overall survival (OS) rates at different pN stages of NSCLC depending on tumor characteristics and to assess the applicability of saliva biochemical markers as prognostic signs. The study included 239 patients with NSCLC (pN0 [...] Read more.
The aim of this study was to compare overall survival (OS) rates at different pN stages of NSCLC depending on tumor characteristics and to assess the applicability of saliva biochemical markers as prognostic signs. The study included 239 patients with NSCLC (pN0-120, pN1-51, pN2-68). Saliva was analyzed for 34 biochemical indicators before the start of treatment. For pN0, the tumor size does not have a prognostic effect, but the histological type should be taken into account. For pN1 and pN2, long-term results are significantly worse in squamous cell cancer with a large tumor size. A larger volume of surgical treatment reduces the differences between OS. The statistically significant factors of an unfavorable prognosis at pN0 are the lactate dehydrogenase activity <1294 U/L and the level of diene conjugates >3.97 c.u. (HR = 3.48, 95% CI 1.21–9.85, p = 0.01541); at pN1, the content of imidazole compounds >0.296 mmol/L (HR = 6.75, 95% CI 1.28–34.57, p = 0.00822); at pN2 levels of protein <0.583 g/L and Schiff bases >0.602 c.u., as well as protein >0.583 g/L and Schiff bases <0.602 c.u. (HR = 2.07, 95% CI 1.47–8.93, p = 0.04351). Using salivary biochemical indicators, it is possible to carry out stratification into prognostic groups depending on the lymph node metastasis. Full article
(This article belongs to the Special Issue Lung Cancer: Diagnosis, Differential Diagnosis, and Management)
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Review
Systemic Sclerosis-Associated Pulmonary Hypertension: Spectrum and Impact
Diagnostics 2021, 11(5), 911; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics11050911 - 20 May 2021
Cited by 1 | Viewed by 389
Abstract
Systemic sclerosis-associated pulmonary arterial hypertension (SSc-PAH) is a catastrophic complication of one of the most common and devastating autoimmune diseases. Once diagnosed, it becomes the leading cause of mortality among this patient population. Screening modalities and risk assessments have been designed and validated [...] Read more.
Systemic sclerosis-associated pulmonary arterial hypertension (SSc-PAH) is a catastrophic complication of one of the most common and devastating autoimmune diseases. Once diagnosed, it becomes the leading cause of mortality among this patient population. Screening modalities and risk assessments have been designed and validated by various organizations and societies in order to identify patients early in their disease course and promptly refer them to expert centers for a hemodynamic assessment and formal diagnosis. Moreover, several large multicenter clinical trials have now included patients with SSc-PAH to assess their response to therapy. Despite an improved understanding of the condition and significant advances in supportive and targeted therapy, outcomes have remained far from optimal. Therefore, rigorous phenotyping and search for novel therapies are desperately needed for this devastating condition. Full article
(This article belongs to the Special Issue Pulmonary Hypertension: Diagnosis and Management)
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Editorial
Editorial of Special Issue “Differential Diagnosis for Dry Eye”
Diagnostics 2021, 11(5), 910; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics11050910 - 20 May 2021
Viewed by 564
Abstract
This editorial aims to summarize the scientific papers that contributed to the Special Issue “Differential Diagnosis for Dry Eye” [...] Full article
(This article belongs to the Special Issue Differential Diagnosis for Dry Eye)
Case Report
Bilateral Retinal Vein Occlusion-Simulated Coats’ Disease
Diagnostics 2021, 11(5), 909; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics11050909 - 19 May 2021
Viewed by 331
Abstract
Retinal vein occlusion (RVO) is a differential diagnosis for Coats’ disease due to retinal arterial Leber’s aneurysms. Occasionally, RVO shows a Coats-like appearance. The differential diagnosis between Coats’ disease and RVO is essential for clinical therapy, especially for those obsolete RVOs with collateral [...] Read more.
Retinal vein occlusion (RVO) is a differential diagnosis for Coats’ disease due to retinal arterial Leber’s aneurysms. Occasionally, RVO shows a Coats-like appearance. The differential diagnosis between Coats’ disease and RVO is essential for clinical therapy, especially for those obsolete RVOs with collateral vessels and without retinal hemorrhage. In this case report, we describe and discuss the imaging characteristics of bilateral RVO-simulated Coats’ disease with tortuous retinal arterioles and its prognosis after anti-vascular endothelial growth factor therapy, which will be beneficial for its definite diagnosis and aid further investigation. Full article
(This article belongs to the Section Pathology and Molecular Diagnostics)
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Editorial
BRCA Germline Mutations in Prostate Cancer: The Future Is Tailored
Diagnostics 2021, 11(5), 908; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics11050908 - 19 May 2021
Cited by 1 | Viewed by 380
Abstract
Prostate cancer (PCa) is the second most common neoplasm in men and the fifth leading cause of death worldwide [...] Full article
Article
Updated Incidence of Thyroid Cancer in the North East Region of Romania after 35 Years of Chernobyl Fallout. Is There a Link between?
Diagnostics 2021, 11(5), 907; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics11050907 - 19 May 2021
Viewed by 451
Abstract
Thyroid cancer (TC) represents a worldwide problem, the consistent growth of the incidence increment issues about management of risk factors and curative treatment. Updated statistical data are not complete in the North East region of Romania and need to be improved. Therefore, through [...] Read more.
Thyroid cancer (TC) represents a worldwide problem, the consistent growth of the incidence increment issues about management of risk factors and curative treatment. Updated statistical data are not complete in the North East region of Romania and need to be improved. Therefore, through this study, we aim to renew the existing data on thyroid cancer. We conducted a retrospective study covering a period of 10 years. Data were collected from a hospital information system (InfoWorld) between 2009 and 2019. Patients’ age groups were stratified in relation with the age at the moment of the Chernobyl event. A database was obtained (Microsoft Excel) and statistical correlations were applied. In the studied period, 1159 patients were diagnosed: 968 females and 191 males, distributed by region, with the highest addressability in Iasi (529), followed by neighboring counties. Age distribution displayed that most of the thyroid cancers were in the range 4060 years old (50.94%), followed by 60–80 years old (32.41%). Most patients were diagnosed with papillary carcinoma 63.10%, then follicular 14.7%, medullary 6.74% and undifferentiated 1.02%. Romania was in the vicinity of the radioactive cloud at Chernobyl fallout, so we must deliberate whether the increased incidence of thyroid cancer in the age group 40–60 years is associated with radiogenicity (iodine 131) given the fact that over has 35 years and the half-life of other radioisotopes like Caesium-137 and Strontium -90 is completed. Full article
(This article belongs to the Special Issue Thyroid Cancer: Diagnosis, Prognosis, Treatment, and Management)
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Article
Comparison of MRI Visualization Following Minimally Invasive and Open TLIF: A Retrospective Single-Center Study
Diagnostics 2021, 11(5), 906; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics11050906 - 19 May 2021
Viewed by 432
Abstract
Analysis of magnetic resonance image (MRI) quality after open (Op)-transforaminal interbody fusion (TLIF) and minimally invasive (MI)-TLIF with the implantation of structurally different systems has not previously been performed. The objective of this study was to conduct a comparative analysis of the postoperative [...] Read more.
Analysis of magnetic resonance image (MRI) quality after open (Op)-transforaminal interbody fusion (TLIF) and minimally invasive (MI)-TLIF with the implantation of structurally different systems has not previously been performed. The objective of this study was to conduct a comparative analysis of the postoperative MRI following MI and Op one-segment TLIF. Material and Methods: The nonrandomized retrospective single-center study included 80 patients (46 men and 24 women) aged 48 + 14.2 years. In group I (n = 20) Op-TLIF with open transpedicular screw fixation (TSF) was performed, in II group (n = 60), the MI-TLIF technique was used: IIa (n = 20)—rigid interspinous stabilizer; IIb (n = 20)—unilateral TSF and contralateral facet fixation; IIc (n = 20)—bilateral TSF. Results: Comparison of the quality of postoperative imaging in IIa and IIb subgroups showed fewer MRI artifacts and a significantly greater MR deterioration after Op and MI TSF. Comparison of the multifidus muscle area showed less atrophy after MI-TLIF and significantly greater atrophy after Op-TLIF. Conclusion: MI-TLIF and Op-TLIF with TSF have comparable postoperative MR artifacts at the operative level, with a greater degree of muscle atrophy using the Op-TLIF. Rigid interspinous implant and unilateral TSF with contralateral facet fixation have less artifacts and changes in the multifidus muscle area. Full article
(This article belongs to the Special Issue Spine Imaging: Novel Image Acquisition Techniques and Analysis Tools)
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Article
Predicting Polysomnography Parameters from Anthropometric Features and Breathing Sounds Recorded during Wakefulness
Diagnostics 2021, 11(5), 905; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics11050905 - 19 May 2021
Viewed by 521
Abstract
Background: The apnea/hypopnea index (AHI) is the primary outcome of a polysomnography assessment (PSG) for determining obstructive sleep apnea (OSA) severity. However, other OSA severity parameters (i.e., total arousal index, mean oxygen saturation (SpO2%), etc.) are crucial for a full diagnosis of OSA [...] Read more.
Background: The apnea/hypopnea index (AHI) is the primary outcome of a polysomnography assessment (PSG) for determining obstructive sleep apnea (OSA) severity. However, other OSA severity parameters (i.e., total arousal index, mean oxygen saturation (SpO2%), etc.) are crucial for a full diagnosis of OSA and deciding on a treatment option. PSG assessments and home sleep tests measure these parameters, but there is no screening tool to estimate or predict the OSA severity parameters other than the AHI. In this study, we investigated whether a combination of breathing sounds recorded during wakefulness and anthropometric features could be predictive of PSG parameters. Methods: Anthropometric information and five tracheal breathing sound cycles were recorded during wakefulness from 145 individuals referred to an overnight PSG study. The dataset was divided into training, validation, and blind testing datasets. Spectral and bispectral features of the sounds were evaluated to run correlation and classification analyses with the PSG parameters collected from the PSG sleep reports. Results: Many sound and anthropometric features had significant correlations (up to 0.56) with PSG parameters. Using combinations of sound and anthropometric features in a bilinear model for each PSG parameter resulted in correlation coefficients up to 0.84. Using the evaluated models for classification with a two-class random-forest classifier resulted in a blind testing classification accuracy up to 88.8% for predicting the key PSG parameters such as arousal index. Conclusions: These results add new value to the current OSA screening tools and provide a new promising possibility for predicting PSG parameters using only a few seconds of breathing sounds recorded during wakefulness without conducting an overnight PSG study. Full article
(This article belongs to the Special Issue Diagnosis and Management of Obstructive Sleep Apnea)
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Article
SalivaSTAT: Direct-PCR and Pooling of Saliva Samples Collected in Healthcare and Community Setting for SARS-CoV-2 Mass Surveillance
Diagnostics 2021, 11(5), 904; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics11050904 - 19 May 2021
Cited by 2 | Viewed by 508
Abstract
Objectives: Limitations of widespread current COVID-19 diagnostic testing exist in both the pre-analytical and analytical stages. To alleviate these limitations, we developed a universal saliva processing protocol (SalivaSTAT) that would enable an extraction-free RT-PCR test using commercially available RT-PCR kits. Methods: We optimized [...] Read more.
Objectives: Limitations of widespread current COVID-19 diagnostic testing exist in both the pre-analytical and analytical stages. To alleviate these limitations, we developed a universal saliva processing protocol (SalivaSTAT) that would enable an extraction-free RT-PCR test using commercially available RT-PCR kits. Methods: We optimized saliva collection devices, heat-shock treatment, and homogenization. Saliva samples (879) previously tested using the FDA-EUA method were reevaluated with the optimized SalivaSTAT protocol using two widely available commercial RT-PCR kits. A five-sample pooling strategy was evaluated as per FDA guidelines. Results: Saliva collection (done without any media) showed performance comparable to that of the FDA-EUA method. The SalivaSTAT protocol was optimized by incubating saliva samples at 95 °C for 30-min and homogenization, followed by RT-PCR assay. The clinical sample evaluation of 630 saliva samples using the SalivaSTAT protocol with PerkinElmer (600-samples) and CDC (30-samples) RT-PCR assay achieved positive (PPA) and negative percent agreements (NPAs) of 95.0% and 100%, respectively. The LoD was established as ~60–180 copies/mL by absolute quantification. Furthermore, a five-sample-pooling evaluation using 250 saliva samples achieved a PPA and NPA of 92% and 100%, respectively. Conclusion: We have optimized an extraction-free RT-PCR assay for saliva samples that demonstrates comparable performance to FDA-EUA assay (Extraction and RT-PCR). Full article
(This article belongs to the Section Diagnostic Microbiology and Infectious Disease)
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Case Report
Rosette-Forming Glioneuronal Tumor of the Fourth Ventricle: A Case of Relapse Treated with Proton Beam Therapy
Diagnostics 2021, 11(5), 903; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics11050903 - 19 May 2021
Viewed by 513
Abstract
Rosette-forming glioneuronal tumors (RGNTs) are rare, grade I, central nervous system (CNS) tumors typically localized to the fourth ventricle. We describe a 9-year-old girl with dizziness and occipital headache. A magnetic resonance imaging (MRI) revealed a large hypodense posterior fossa mass lesion in [...] Read more.
Rosette-forming glioneuronal tumors (RGNTs) are rare, grade I, central nervous system (CNS) tumors typically localized to the fourth ventricle. We describe a 9-year-old girl with dizziness and occipital headache. A magnetic resonance imaging (MRI) revealed a large hypodense posterior fossa mass lesion in relation to the vermis, with cystic component. Surgical resection of the tumor was performed. A RGNT diagnosis was made at the histopathological examination. During follow-up, the patient experienced a first relapse, which was again surgically removed. Eight months after, MRI documented a second recurrence at the local level. She was a candidate for the proton beam therapy (PBT) program. Three years after the end of PBT, the patient had no evidence of disease recurrence. This report underlines that, although RGNTs are commonly associated with an indolent course, they may have the potential for aggressive behavior, suggesting the need for treatment in addition to surgery. Controversy exists in the literature regarding effective management of RGNTs. Chemotherapy and radiation are used as adjuvant therapy, but their efficacy management has not been adequately described in the literature. This is the first case report published in which PBT was proposed for adjuvant therapy in place of chemotherapy in RGNT relapse. Full article
(This article belongs to the Special Issue Advances in Pediatric Neuro-Oncology)
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Article
Detection of Degenerative Changes on MR Images of the Lumbar Spine with a Convolutional Neural Network: A Feasibility Study
Diagnostics 2021, 11(5), 902; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics11050902 - 19 May 2021
Cited by 1 | Viewed by 717
Abstract
Our objective was to evaluate the diagnostic performance of a convolutional neural network (CNN) trained on multiple MR imaging features of the lumbar spine, to detect a variety of different degenerative changes of the lumbar spine. One hundred and forty-six consecutive patients underwent [...] Read more.
Our objective was to evaluate the diagnostic performance of a convolutional neural network (CNN) trained on multiple MR imaging features of the lumbar spine, to detect a variety of different degenerative changes of the lumbar spine. One hundred and forty-six consecutive patients underwent routine clinical MRI of the lumbar spine including T2-weighted imaging and were retrospectively analyzed using a CNN for detection and labeling of vertebrae, disc segments, as well as presence of disc herniation, disc bulging, spinal canal stenosis, nerve root compression, and spondylolisthesis. The assessment of a radiologist served as the diagnostic reference standard. We assessed the CNN’s diagnostic accuracy and consistency using confusion matrices and McNemar’s test. In our data, 77 disc herniations (thereof 46 further classified as extrusions), 133 disc bulgings, 35 spinal canal stenoses, 59 nerve root compressions, and 20 segments with spondylolisthesis were present in a total of 888 lumbar spine segments. The CNN yielded a perfect accuracy score for intervertebral disc detection and labeling (100%), and moderate to high diagnostic accuracy for the detection of disc herniations (87%; 95% CI: 0.84, 0.89), extrusions (86%; 95% CI: 0.84, 0.89), bulgings (76%; 95% CI: 0.73, 0.78), spinal canal stenoses (98%; 95% CI: 0.97, 0.99), nerve root compressions (91%; 95% CI: 0.89, 0.92), and spondylolisthesis (87.61%; 95% CI: 85.26, 89.21), respectively. Our data suggest that automatic diagnosis of multiple different degenerative changes of the lumbar spine is feasible using a single comprehensive CNN. The CNN provides high diagnostic accuracy for intervertebral disc labeling and detection of clinically relevant degenerative changes such as spinal canal stenosis and disc extrusion of the lumbar spine. Full article
(This article belongs to the Special Issue Spine Imaging: Novel Image Acquisition Techniques and Analysis Tools)
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Article
Automated Detection of Pancreatic Cystic Lesions on CT Using Deep Learning
Diagnostics 2021, 11(5), 901; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics11050901 - 19 May 2021
Cited by 1 | Viewed by 457
Abstract
Pancreatic cystic lesions (PCL) are a frequent and underreported incidental finding on CT scans and can transform into neoplasms with devastating consequences. We developed and evaluated an algorithm based on a two-step nnU-Net architecture for automated detection of PCL on CTs. A total [...] Read more.
Pancreatic cystic lesions (PCL) are a frequent and underreported incidental finding on CT scans and can transform into neoplasms with devastating consequences. We developed and evaluated an algorithm based on a two-step nnU-Net architecture for automated detection of PCL on CTs. A total of 543 cysts on 221 abdominal CTs were manually segmented in 3D by a radiology resident in consensus with a board-certified radiologist specialized in abdominal radiology. This information was used to train a two-step nnU-Net for detection with the performance assessed depending on lesions’ volume and location in comparison to three human readers of varying experience. Mean sensitivity was 78.8 ± 0.1%. The sensitivity was highest for large lesions with 87.8% for cysts ≥220 mm3 and for lesions in the distal pancreas with up to 96.2%. The number of false-positive detections for cysts ≥220 mm3 was 0.1 per case. The algorithm’s performance was comparable to human readers. To conclude, automated detection of PCL on CTs is feasible. The proposed model could serve radiologists as a second reading tool. All imaging data and code used in this study are freely available online. Full article
(This article belongs to the Special Issue Diagnosis and Management of Pancreatic Cysts)
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Article
Serum Anti-Collagen IV IgM and IgG Antibodies as Indicators of Low Vascular Turnover of Collagen IV in Patients with Long-Term Complications of Type 2 Diabetes
Diagnostics 2021, 11(5), 900; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics11050900 - 19 May 2021
Viewed by 512
Abstract
Thickening of the vascular basement membrane (BM) is a fundamental structural change in the small blood vessels in diabetes. Collagen type IV (CIV) is a major component of the BMs, and monitoring the turnover of this protein in type 2 diabetes (T2D) can [...] Read more.
Thickening of the vascular basement membrane (BM) is a fundamental structural change in the small blood vessels in diabetes. Collagen type IV (CIV) is a major component of the BMs, and monitoring the turnover of this protein in type 2 diabetes (T2D) can provide important information about the mechanisms of vascular damage. The aim of the study was through the use of non-invasive biomarkers of CIV (autoantibodies, derivative peptides, and immune complexes) to investigate vascular turnover of CIV in patients with long-term complications of T2D. We measured serum levels of these biomarkers in 59 T2D patients with micro- and/or macrovascular complications and 20 healthy controls using an ELISA. Matrix metalloproteinases-2 and -9 (MMP-2 and MMP-9) were also tested. In the T2D group, significantly lower levels of CIV markers and significantly higher levels of MMP-2 and MMP-9 were found compared to controls. A significant positive correlation was found between IgM antibody levels against CIV and MMP-2. These findings suggest that vascular metabolism of CIV is decreased in T2D with long-term complications and show that a positive linear relationship exists between MMP-2 levels and CIV turnover in the vascular wall. Full article
(This article belongs to the Special Issue Biomarkers of Vascular Diseases 2.0)
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Interesting Images
A “Galactic” Chest X-ray
Diagnostics 2021, 11(5), 899; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics11050899 - 18 May 2021
Viewed by 376
Abstract
Clinical manifestations accompanying respiratory failure with insidious and rapidly progressive onset are often non-specific. Symptoms such as a cough, dyspnea, and fever are common to a large number of inflammatory, infectious, or neoplastic diseases. During the COVID-19 pandemic it is essential to limit [...] Read more.
Clinical manifestations accompanying respiratory failure with insidious and rapidly progressive onset are often non-specific. Symptoms such as a cough, dyspnea, and fever are common to a large number of inflammatory, infectious, or neoplastic diseases. During the COVID-19 pandemic it is essential to limit the use of hospital services and inappropriate diagnostic techniques. A particular radiological pattern can orient the clinical and laboratory scenario and guide the diagnostic workup. A 58-year-old woman was admitted to our COVID-19 unit for suspected coronavirus infection. She was complaining of worsening dyspnea, tachycardia, and low grade fever. A chest X-ray showed diffuse, alveolar, and interstitial lung involvement with micronodules tending to coalescence. This radiographic pattern known as “galaxy sign”, consistent with diffuse, coalescing nodular miliary pulmonary involvement, simulating a non-specific alveolar opacification of the lungs is typical of a few pneumological differential diagnoses, represented by sarcoidosis, tuberculosis, pneumoconiosis, and metastatic lesions, and virtually excludes an interstitial viral pneumonitis. The use of endoscopic techniques can, in such cases, confirm the clinical suspicion for initiating appropriate targeted therapies. Full article
(This article belongs to the Collection Interesting Images)
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Article
Dynamic Ultrasonographic Measurement of Inferior Joint Capsule Thickness in Patients with Unilateral Frozen Shoulder
Diagnostics 2021, 11(5), 898; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics11050898 - 18 May 2021
Viewed by 334
Abstract
The diagnostic value of ultrasonography (US) for frozen shoulder (FS) is not well established. This study aimed to assess the diagnostic value of US measurement of inferior joint capsule (IJC) thickness and evaluate changes in the thickness of the IJC by US depending [...] Read more.
The diagnostic value of ultrasonography (US) for frozen shoulder (FS) is not well established. This study aimed to assess the diagnostic value of US measurement of inferior joint capsule (IJC) thickness and evaluate changes in the thickness of the IJC by US depending on arm position. A total of 71 patients with clinically diagnosed unilateral FS who underwent bilateral US measurement of the IJC were enrolled in this study. The US measurement of the IJC was performed with a linear transducer positioned around the anterior axillary line with the shoulder 40° abducted and with neutral rotation of the glenohumeral joint (neutral position). We also measured the IJC thickness in the externally rotated and internally rotated positions with the shoulder 40° abducted. In the neutral position, as well as in the internally rotated and externally rotated positions, the thickness of the IJC on US was significantly higher in the affected shoulder than that in the unaffected shoulder (all p < 0.001). On both the affected and unaffected sides, the US thickness of the IJC in the neutral position was significantly higher than that in the externally rotated position (p < 0.001), but lower than that in the internally rotated position (p < 0.001). Regarding IJC thickness in the neutral position, a 3.2-mm cutoff value yielded the highest diagnostic accuracy for FS, with a sensitivity and specificity of 73.2% and 77.5%, respectively. The area under the curve for IJC thickness was 0.824 (95% confidence interval, 0.76–0.89). US measurement of the IJC in the neutral position yielded good diagnostic accuracy for FS. Because IJC thickness is affected by arm rotation, it is important to measure the IJC thickness in a standardized posture to ensure diagnostic value. Full article
(This article belongs to the Special Issue Diagnosis and Treatment of Shoulder and Elbow Disease and Trauma)
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Article
Identifying Early Diagnostic Biomarkers Associated with Neonatal Hypoxic-Ischemic Encephalopathy
Diagnostics 2021, 11(5), 897; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics11050897 - 18 May 2021
Viewed by 385
Abstract
Background: Identifying an effective method for the early diagnosis of neonatal hypoxic-ischemic encephalopathy (HIE) would be beneficial for effective therapies. Methods: We studied blood biomarkers before 6 h after birth to correlate the degree of neonatal HIE. A total of 80 patients were [...] Read more.
Background: Identifying an effective method for the early diagnosis of neonatal hypoxic-ischemic encephalopathy (HIE) would be beneficial for effective therapies. Methods: We studied blood biomarkers before 6 h after birth to correlate the degree of neonatal HIE. A total of 80 patients were divided into group 1 (mild HIE) and group 2 (moderate or severe HIE). Then, 42 patients from group 2 received hypothermia therapy and were further divided into group 3 (unremarkable or mild MRI results) and group 4 (severe MRI results). Results: Between groups 1 and 2, lactate, creatinine, white blood cells, and lactate dehydrogenase (LDH) were significantly different. Between groups 3 and 4, lactate, prothrombin time, and albumin were significantly different. Sarnat staging was based on our observation that more than 45 mg/dL of lactate combined with more than 1000 U/L of LDH yielded the highest positive predictive value (PPV) (95.7%; odds ratio, 22.00), but a low negative predictive value (NPV) for moderate or severe HIE. Using more than 45 mg/dL of lactate yielded the highest NPV (71.4%) correlated with moderate or severe HIE. Conclusions: Lactate combined with LDH before 6 h after birth yielded a high PPV. Using combined biomarkers to exclude mild HIE, include moderate or severe HIE, and initialize hypothermia therapy is feasible. Full article
(This article belongs to the Section Pathology and Molecular Diagnostics)
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Brief Report
Association of Alpha B-Crystallin Expression with Tumor Differentiation Grade in Colorectal Cancer Patients
Diagnostics 2021, 11(5), 896; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics11050896 - 18 May 2021
Cited by 1 | Viewed by 491
Abstract
Alpha B-crystallin (CRYAB, HSPB5) belongs to the small heat shock protein (HSP) family and is highly expressed in various human cancers, suggesting a crucial role in tumor progression. However, few studies have examined CRYAB expression in colorectal cancer (CRC). In the present study, [...] Read more.
Alpha B-crystallin (CRYAB, HSPB5) belongs to the small heat shock protein (HSP) family and is highly expressed in various human cancers, suggesting a crucial role in tumor progression. However, few studies have examined CRYAB expression in colorectal cancer (CRC). In the present study, we investigated the relationship between CRYAB expression and the clinicopathological features of CRC samples. We comparatively analyzed CRYAB protein expression in 111 CRC tissues and normal adjacent colonic tissue, observing that it was significantly lower in CRC tissues than in corresponding non-cancerous tissues. Moreover, immunohistochemical analysis showed a significant correlation between CRYAB expression and high histological grade G3 (p = 0.033). In summary, our results point to its possible application as a prognostic biomarker in CRC patients. Full article
(This article belongs to the Section Pathology and Molecular Diagnostics)
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Article
Generation of Synthetic Chest X-ray Images and Detection of COVID-19: A Deep Learning Based Approach
Diagnostics 2021, 11(5), 895; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics11050895 - 18 May 2021
Cited by 2 | Viewed by 588
Abstract
COVID-19 is a disease caused by the SARS-CoV-2 virus. The COVID-19 virus spreads when a person comes into contact with an affected individual. This is mainly through drops of saliva or nasal discharge. Most of the affected people have mild symptoms while some [...] Read more.
COVID-19 is a disease caused by the SARS-CoV-2 virus. The COVID-19 virus spreads when a person comes into contact with an affected individual. This is mainly through drops of saliva or nasal discharge. Most of the affected people have mild symptoms while some people develop acute respiratory distress syndrome (ARDS), which damages organs like the lungs and heart. Chest X-rays (CXRs) have been widely used to identify abnormalities that help in detecting the COVID-19 virus. They have also been used as an initial screening procedure for individuals highly suspected of being infected. However, the availability of radiographic CXRs is still scarce. This can limit the performance of deep learning (DL) based approaches for COVID-19 detection. To overcome these limitations, in this work, we developed an Auxiliary Classifier Generative Adversarial Network (ACGAN), to generate CXRs. Each generated X-ray belongs to one of the two classes COVID-19 positive or normal. To ensure the goodness of the synthetic images, we performed some experimentation on the obtained images using the latest Convolutional Neural Networks (CNNs) to detect COVID-19 in the CXRs. We fine-tuned the models and achieved more than 98% accuracy. After that, we also performed feature selection using the Harmony Search (HS) algorithm, which reduces the number of features while retaining classification accuracy. We further release a GAN-generated dataset consisting of 500 COVID-19 radiographic images. Full article
(This article belongs to the Section Machine Learning and Artificial Intelligence in Diagnostics)
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Article
Frequency and Significance of Pathologic Pulmonary Findings in Postmortem Examinations—A Single Center Experience before COVID-19
Diagnostics 2021, 11(5), 894; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics11050894 - 18 May 2021
Viewed by 457
Abstract
Coronavirus disease 2019 (COVID-19) has shown the importance of postmortem investigation of deceased patients. For a correct interpretation of the pulmonary findings in this new era, it is, however, crucial to be familiar with pathologic pulmonary conditions observed in postmortem investigations in general. [...] Read more.
Coronavirus disease 2019 (COVID-19) has shown the importance of postmortem investigation of deceased patients. For a correct interpretation of the pulmonary findings in this new era, it is, however, crucial to be familiar with pathologic pulmonary conditions observed in postmortem investigations in general. Adequate postmortem histopathological evaluation of the lungs may be affected by suboptimal gross work up, autolysis or poor fixation. Using a standardized preparation approach which consisted in instillation of 4% buffered formaldehyde through the large bronchi for proper fixation and preparing large frontal tissue sections of 1–2 cm thickness after at least 24 h fixation, we comprehensively analyzed postmortem pulmonary findings from consecutive adult autopsies of a two-year period before the occurrence of COVID-19 (2016–2017). In total, significant pathological findings were observed in 97/189 patients (51%), with 28 patients showing more than one pathologic condition. Acute pneumonia was diagnosed 33/128 times (26%), embolism 24 times (19%), primary pulmonary neoplasms 18 times (14%), organizing pneumonia and other fibrosing conditions 14 times (11%), pulmonary metastases 13 times (10%), diffuse alveolar damage 12 times (9%), severe emphysema 9 times (7%) and other pathologies, e.g., amyloidosis 5/128 times (4%). Pulmonary/cardiopulmonary disease was the cause of death in 60 patients (32%). Clinical and pathological diagnoses regarding lung findings correlated completely in 75 patients (40%). Autopsy led to confirmation of a clinically suspected pulmonary diagnosis in 57 patients (39%) and clarification of an unclear clinical lung finding in 16 patients (8%). Major discrepant findings regarding the lungs (N = 31; 16%) comprised cases with clinical suspicions that could not be confirmed or new findings not diagnosed intra vitam. A significant proportion of acute pneumonias (N = 8; 24% of all cases with this diagnosis; p = 0.011) was not diagnosed clinically. We confirmed the frequent occurrence of pulmonary pathologies in autopsies, including inflammatory and neoplastic lesions as the most frequent pathological findings. Acute pneumonia was an important cause for discrepancy between clinical and postmortem diagnostics Full article
(This article belongs to the Special Issue Autopsy for Medical Diagnostics)
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Article
Detection and Severity Classification of COVID-19 in CT Images Using Deep Learning
Diagnostics 2021, 11(5), 893; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics11050893 - 17 May 2021
Viewed by 653
Abstract
Detecting COVID-19 at an early stage is essential to reduce the mortality risk of the patients. In this study, a cascaded system is proposed to segment the lung, detect, localize, and quantify COVID-19 infections from computed tomography images. An extensive set of experiments [...] Read more.
Detecting COVID-19 at an early stage is essential to reduce the mortality risk of the patients. In this study, a cascaded system is proposed to segment the lung, detect, localize, and quantify COVID-19 infections from computed tomography images. An extensive set of experiments were performed using Encoder–Decoder Convolutional Neural Networks (ED-CNNs), UNet, and Feature Pyramid Network (FPN), with different backbone (encoder) structures using the variants of DenseNet and ResNet. The conducted experiments for lung region segmentation showed a Dice Similarity Coefficient (DSC) of 97.19% and Intersection over Union (IoU) of 95.10% using U-Net model with the DenseNet 161 encoder. Furthermore, the proposed system achieved an elegant performance for COVID-19 infection segmentation with a DSC of 94.13% and IoU of 91.85% using the FPN with DenseNet201 encoder. The proposed system can reliably localize infections of various shapes and sizes, especially small infection regions, which are rarely considered in recent studies. Moreover, the proposed system achieved high COVID-19 detection performance with 99.64% sensitivity and 98.72% specificity. Finally, the system was able to discriminate between different severity levels of COVID-19 infection over a dataset of 1110 subjects with sensitivity values of 98.3%, 71.2%, 77.8%, and 100% for mild, moderate, severe, and critical, respectively. Full article
(This article belongs to the Special Issue Artificial Intelligence for COVID-19 Diagnosis)
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Review
Left Ventricular Deformation and Vortex Analysis in Heart Failure: From Ultrasound Technique to Current Clinical Application
Diagnostics 2021, 11(5), 892; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics11050892 - 17 May 2021
Viewed by 440
Abstract
Heart failure (HF) is a leading cause of cardiovascular morbidity and mortality. However, its symptoms and signs are not specific or can be absent. In this context, transthoracic echocardiography plays a key role in diagnosing the various forms of HF, guiding therapeutic decision [...] Read more.
Heart failure (HF) is a leading cause of cardiovascular morbidity and mortality. However, its symptoms and signs are not specific or can be absent. In this context, transthoracic echocardiography plays a key role in diagnosing the various forms of HF, guiding therapeutic decision making and monitoring response to therapy. Over the last few decades, new ultrasound modalities have been introduced in the field of echocardiography, aiming at better understanding the morpho-functional abnormalities occurring in cardiovascular diseases. However, they are still struggling to enter daily and routine use. In our review article, we turn the spotlight on some of the newest ultrasound technologies; in particular, analysis of myocardial deformation by speckle tracking echocardiography, and intracardiac flow dynamics by color Doppler flow mapping, highlighting their promising applications to HF diagnosis and management. We also focus on the importance of these imaging modalities in the selection of responses to cardiac resynchronization therapy. Full article
(This article belongs to the Special Issue Trends and Novelties in Cardiovascular Imaging)
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Review
Recent Developments of ICG-Guided Sentinel Lymph Node Mapping in Oral Cancer
Diagnostics 2021, 11(5), 891; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics11050891 - 17 May 2021
Viewed by 404
Abstract
Sentinel lymph node (SLN) biopsy has gained attention as a method of minimizing the extent of neck dissection with a similar survival rate as elective neck dissection in oral cancer. Indocyanine green (ICG) imaging is widely used in the field of surgical oncology. [...] Read more.
Sentinel lymph node (SLN) biopsy has gained attention as a method of minimizing the extent of neck dissection with a similar survival rate as elective neck dissection in oral cancer. Indocyanine green (ICG) imaging is widely used in the field of surgical oncology. Real-time ICG-guided SLN imaging has been widely used in minimally invasive surgeries for various types of cancers. Here, we provide an overview of conventional SLN biopsy and ICG-guided SLN mapping techniques for oral cancer. Although ICG has many strengths, it still has limitations regarding its potential use as an ideal compound for SLN mapping. The development of novel fluorophores and imaging technology is needed for accurate identification of SLNs, which will allow precision surgery that would reduce morbidities and increase patient survival. Full article
(This article belongs to the Section Pathology and Molecular Diagnostics)
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Article
The Prognostic Correlation of Heart Rate Variability at Diagnosis with Survival of Patients with Hepatocellular Carcinoma
Diagnostics 2021, 11(5), 890; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics11050890 - 17 May 2021
Viewed by 400
Abstract
Background: Heart rate variability (HRV) indices have been shown to be associated with prognosis in various types of cancer. This study aims to assess the ability of these indices to predict survival in hepatocellular carcinoma (HCC) patients after diagnosis. Methods: We retrospectively collected [...] Read more.
Background: Heart rate variability (HRV) indices have been shown to be associated with prognosis in various types of cancer. This study aims to assess the ability of these indices to predict survival in hepatocellular carcinoma (HCC) patients after diagnosis. Methods: We retrospectively collected data from 231 patients diagnosed with HCC between January 2014 and March 2018. The baseline clinical-pathological variables and HRV indices (extracted from Holter electrocardiogram recordings) were analyzed. Results: Univariate and multivariate analyses were performed to identify the predictive value of the above factors for overall survival (OS). The univariate analysis revealed that an age > 60 years, hepatitis C, portal vein involvement (thrombosis), a tumor size > 5 cm, alpha-fetoprotein (AFP) > 400 ng/mL, serum albumin, and C-reactive protein (CRP) were risk factors for poor OS. Multivariable Cox regression analyses identified that a tumor size > 5 cm and AFP > 400 ng/mL predict poorer outcomes in HCC patients. It should be mentioned that, in both the univariate analysis and in the multivariate analysis, between HRV indices, SDNN (standard deviation of all normal-to-normal (NN) intervals) < 110 ms was an independent risk factor for OS with an HR of 3.646 (95% CI 2.143 to 6.205). Conclusion: This study demonstrates that HRV indices identify HCC patients at high risk of death and suggests that such monitoring might guide the need for early therapy in these types of patients, as well as the fact that HRV can be a potential noninvasive biomarker for HCC prognosis. Full article
(This article belongs to the Section Pathology and Molecular Diagnostics)
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Article
Short-Term CPAP Improves Biventricular Function in Patients with Moderate-Severe OSA and Cardiometabolic Comorbidities
Diagnostics 2021, 11(5), 889; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics11050889 - 17 May 2021
Viewed by 420
Abstract
Obstructive sleep apnea (OSA) is the most common form of sleep-disordered breathing, exhibiting an increasing prevalence and several cardiovascular complications. Continuous positive airway pressure (CPAP) is the gold-standard treatment for moderate-severe OSA, but it is associated with poor patient adherence. We performed a [...] Read more.
Obstructive sleep apnea (OSA) is the most common form of sleep-disordered breathing, exhibiting an increasing prevalence and several cardiovascular complications. Continuous positive airway pressure (CPAP) is the gold-standard treatment for moderate-severe OSA, but it is associated with poor patient adherence. We performed a prospective study that included 57 patients with newly diagnosed moderate-severe OSA, prior to CPAP initiation. The objective of our study was to assess the impact of short-term CPAP on ventricular function in patients with moderate-severe OSA and cardiometabolic comorbidities. The patients underwent a clinical exam, ambulatory blood pressure monitoring and comprehensive echocardiographic assessment at baseline and after 8 weeks of CPAP. Hypertension, obesity and diabetes were highly prevalent among patients with moderate-severe OSA. Baseline echocardiographic parameters did not significantly differ between patients with moderate and severe OSA. Short-term CPAP improved left ventricular global longitudinal strain (LV-GLS), isovolumetric relaxation time, transmitral E wave amplitude, transmitral E/A ratio, right ventricular (RV) diameter, RV wall thickness, RV systolic excursion velocity (RV S‘) and tricuspid annular plane systolic excursion (TAPSE). Short-term CPAP improves biventricular function, especially the LV-GLS, which is a more sensitive marker of CPAP-induced changes in LV systolic function, compared to LVEF. All these benefits are dependent on CPAP adherence. Full article
(This article belongs to the Special Issue Diagnosis and Management of Obstructive Sleep Apnea)
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Review
Understanding False Negative in Prenatal Testing
Diagnostics 2021, 11(5), 888; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics11050888 - 17 May 2021
Viewed by 576
Abstract
A false negative can happen in many kinds of medical tests, regardless of whether they are screening or diagnostic in nature. However, it inevitably poses serious concerns especially in a prenatal setting because its sequelae can mark the birth of an affected child [...] Read more.
A false negative can happen in many kinds of medical tests, regardless of whether they are screening or diagnostic in nature. However, it inevitably poses serious concerns especially in a prenatal setting because its sequelae can mark the birth of an affected child beyond expectation. False negatives are not a new thing because of emerging new tests in the field of reproductive, especially prenatal, genetics but has occurred throughout the evolution of prenatal screening and diagnosis programs. In this paper we aim to discuss the basic differences between screening and diagnosis, the trade-offs and the choices, and also shed light on the crucial points clinicians need to know and be aware of so that a quality service can be provided in a coherent and sensible way to patients so that vital issues related to a false negative result can be appropriately comprehended by all parties. Full article
(This article belongs to the Special Issue Advances in Prenatal Diagnostics)
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Article
A Comprehensive Machine Learning Framework for the Exact Prediction of the Age of Onset in Familial and Sporadic Alzheimer’s Disease
Diagnostics 2021, 11(5), 887; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics11050887 - 17 May 2021
Viewed by 607
Abstract
Machine learning (ML) algorithms are widely used to develop predictive frameworks. Accurate prediction of Alzheimer’s disease (AD) age of onset (ADAOO) is crucial to investigate potential treatments, follow-up, and therapeutic interventions. Although genetic and non-genetic factors affecting ADAOO were elucidated by other research [...] Read more.
Machine learning (ML) algorithms are widely used to develop predictive frameworks. Accurate prediction of Alzheimer’s disease (AD) age of onset (ADAOO) is crucial to investigate potential treatments, follow-up, and therapeutic interventions. Although genetic and non-genetic factors affecting ADAOO were elucidated by other research groups and ours, the comprehensive and sequential application of ML to provide an exact estimation of the actual ADAOO, instead of a high-confidence-interval ADAOO that may fall, remains to be explored. Here, we assessed the performance of ML algorithms for predicting ADAOO using two AD cohorts with early-onset familial AD and with late-onset sporadic AD, combining genetic and demographic variables. Performance of ML algorithms was assessed using the root mean squared error (RMSE), the R-squared (R2), and the mean absolute error (MAE) with a 10-fold cross-validation procedure. For predicting ADAOO in familial AD, boosting-based ML algorithms performed the best. In the sporadic cohort, boosting-based ML algorithms performed best in the training data set, while regularization methods best performed for unseen data. ML algorithms represent a feasible alternative to accurately predict ADAOO with little human intervention. Future studies may include predicting the speed of cognitive decline in our cohorts using ML. Full article
(This article belongs to the Special Issue Machine Learning Approaches for Neurodegenerative Diseases Diagnosis)
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Case Report
Sudden Death without a Clear Cause after Comprehensive Investigation: An Example of Forensic Approach to Atypical/Uncertain Findings
Diagnostics 2021, 11(5), 886; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics11050886 - 17 May 2021
Cited by 1 | Viewed by 409
Abstract
Sudden death (SD) is defined as the unexpected natural death occurred within an hour after the onset of symptoms or from the last moment the subject has been seen in a healthy condition. Brugada syndrome (BrS) is one of the most remarkable cardiac [...] Read more.
Sudden death (SD) is defined as the unexpected natural death occurred within an hour after the onset of symptoms or from the last moment the subject has been seen in a healthy condition. Brugada syndrome (BrS) is one of the most remarkable cardiac causes of SD among young people. We report the case of a 20-year-old man who suddenly died after reportedly having smoked cannabis. Autopsy, toxicology, and genetic testing were performed. Autopsy found a long and thick myocardial bridging (MB) at 2 cm from the beginning of the left anterior descending coronary artery. Furthermore, at the histopathological examination, fibrosis and disarray in myocardial area above the MB, fatty tissue in the right ventricle and fibrosis of the sino-atrial node area were found. Toxicology testing was inconclusive, while genetic testing found a rare missense variant of the TTN gene, classified as likely benign, and a variant of unknown significance in the SLMAP gene (a gene that can be associated with BrS). Hence, despite several atypical features were found, no inference on the cause of the death could be made under current evidence. Full article
(This article belongs to the Section Pathology and Molecular Diagnostics)
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