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Diagnostics, Volume 10, Issue 7 (July 2020) – 71 articles

Cover Story (view full-size image): Recently, the incidence of congenital hypothyroidism has increased, especially in preterm infants, who represent a challenge for newborn screening programs. Hypothyroxinemia of prematurity is a major cause of false-positive results on thyroxine (T4)-based screening programs. This study presents T4 reference ranges in dried blood spots and analyzes how T4 concentration changes over time according to gestational age. Our results suggest that in order to improve the efficacy of screening strategies in preterm infants, the use of lower T4 cutoff values according to gestational age at birth may be required. View this paper
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13 pages, 541 KiB  
Review
Radiomics for the Diagnosis and Differentiation of Pancreatic Cystic Lesions
by Jorge D. Machicado, Eugene J. Koay and Somashekar G. Krishna
Diagnostics 2020, 10(7), 505; https://doi.org/10.3390/diagnostics10070505 - 21 Jul 2020
Cited by 18 | Viewed by 3672
Abstract
Radiomics, also known as quantitative imaging or texture analysis, involves extracting a large number of features traditionally unmeasured in conventional radiological cross-sectional images and converting them into mathematical models. This review describes this approach and its use in the evaluation of pancreatic cystic [...] Read more.
Radiomics, also known as quantitative imaging or texture analysis, involves extracting a large number of features traditionally unmeasured in conventional radiological cross-sectional images and converting them into mathematical models. This review describes this approach and its use in the evaluation of pancreatic cystic lesions (PCLs). This discipline has the potential of more accurately assessing, classifying, risk stratifying, and guiding the management of PCLs. Existing studies have provided important insight into the role of radiomics in managing PCLs. Although these studies are limited by the use of retrospective design, single center data, and small sample sizes, radiomic features in combination with clinical data appear to be superior to the current standard of care in differentiating cyst type and in identifying mucinous PCLs with high-grade dysplasia. Combining radiomic features with other novel endoscopic diagnostics, including cyst fluid molecular analysis and confocal endomicroscopy, can potentially optimize the predictive accuracy of these models. There is a need for multicenter prospective studies to elucidate the role of radiomics in the management of PCLs. Full article
(This article belongs to the Section Medical Imaging and Theranostics)
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14 pages, 1282 KiB  
Review
Revisiting Cell Death Responses in Fibrotic Lung Disease: Crosstalk between Structured and Non-Structured Cells
by Kiyoharu Fukushima, Takashi Satoh, Hiroshi Kida and Atsushi Kumanogoh
Diagnostics 2020, 10(7), 504; https://doi.org/10.3390/diagnostics10070504 - 21 Jul 2020
Cited by 5 | Viewed by 3597
Abstract
Fibrosis is a life-threatening disorder caused by excessive formation of connective tissue that can affect several critical organs. Innate immune cells are involved in the development of various disorders, including lung fibrosis. To date, several hematopoietic cell types have been implicated in fibrosis, [...] Read more.
Fibrosis is a life-threatening disorder caused by excessive formation of connective tissue that can affect several critical organs. Innate immune cells are involved in the development of various disorders, including lung fibrosis. To date, several hematopoietic cell types have been implicated in fibrosis, including pro-fibrotic monocytes like fibrocytes and segregated-nucleus-containing atypical monocytes (SatMs), but the precise cellular and molecular mechanisms underlying its development remain unclear. Repetitive injury and subsequent cell death response are triggering events for lung fibrosis development. Crosstalk between lung structured and non-structured cells is known to regulate the key molecular event. We recently reported that RNA-binding motif protein 7 (RBM7) expression is highly upregulated in the fibrotic lung and plays fundamental roles in fibrosis development. RBM7 regulates nuclear degradation of NEAT1 non-coding RNA, resulting in sustained apoptosis in the lung epithelium and fibrosis. Apoptotic epithelial cells produce CXCL12, which leads to the recruitment of pro-fibrotic monocytes. Apoptosis is also the main source of autoantigens. Recent studies have revealed important functions for natural autoantibodies that react with specific sets of self-antigens and are unique to individual diseases. Here, we review recent insights into lung fibrosis development in association with crosstalk between structured cells like lung epithelial cells and non-structured cells like migrating immune cells, and discuss their relevance to acquired immunity through natural autoantibody production. Full article
(This article belongs to the Special Issue Discovery of Antibody Biomarker)
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10 pages, 3306 KiB  
Article
Immune Escape Is an Early Event in Pre-Invasive Lesions of Lung Squamous Cell Carcinoma
by David Laville, Francois Casteillo, Violaine Yvorel, Olivier Tiffet, Jean-Michel Vergnon, Michel Péoc’h and Fabien Forest
Diagnostics 2020, 10(7), 503; https://doi.org/10.3390/diagnostics10070503 - 21 Jul 2020
Cited by 4 | Viewed by 2393
Abstract
Bronchial dysplasia is the pre-neoplastic lesion recognized for invasive squamous cell carcinoma. The mechanisms leading to invasive squamous cell carcinoma for this lesion are not fully known. Programmed Death-Ligand 1 (PD-L1) expression by the bronchial dysplasia neoplastic epithelium might suggest a response to [...] Read more.
Bronchial dysplasia is the pre-neoplastic lesion recognized for invasive squamous cell carcinoma. The mechanisms leading to invasive squamous cell carcinoma for this lesion are not fully known. Programmed Death-Ligand 1 (PD-L1) expression by the bronchial dysplasia neoplastic epithelium might suggest a response to immunotherapy. The objective of this work is to further characterize PD-L1 and CD8 expression in bronchial dysplasia and bronchial metaplasia compared to normal bronchial epithelium. Immunohistochemical analysis of PD-L1 and CD8 staining were characterized in bronchial dysplasia of 24 patients and correlated with clinical data. We also compared PD-L1 expression in dysplasia samples to 30 normal epithelium and 20 samples with squamous bronchial metaplasia. PD-L1 was never expressed in normal epithelium and in metaplastic epithelium whereas 37.5% of patients with bronchial dysplasia were stained by PD-L1 (p < 0.001). PD-L1 expression was not related to the degree of dysplasia or a medical history of invasive squamous cell carcinoma, while CD8 expression and its localization were related to medical history of squamous cell carcinoma (p = 0.044). Our results show that PD-L1 is expressed in roughly one third of patients with bronchial dysplasia and is not expressed in normal and metaplastic epithelium. This suggests that PD-L1 is expressed in preneoplastic lesions of squamous cell carcinoma. Full article
(This article belongs to the Section Pathology and Molecular Diagnostics)
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11 pages, 1581 KiB  
Article
Expression Analysis of Muscle-Specific miRNAs in Plasma-Derived Extracellular Vesicles from Patients with Chronic Obstructive Pulmonary Disease
by Sara Carpi, Beatrice Polini, Dario Nieri, Nevio Dubbini, Alessandro Celi, Paola Nieri and Tommaso Neri
Diagnostics 2020, 10(7), 502; https://doi.org/10.3390/diagnostics10070502 - 21 Jul 2020
Cited by 11 | Viewed by 2666
Abstract
MicroRNAs (miRNAs) are a class of short non-coding RNAs involved in the regulation of gene expression and the control of several cellular processes at physiological and pathological levels. Furthermore, extracellular vesicles (EV), which are small membrane-bound vesicles secreted by cells in the extracellular [...] Read more.
MicroRNAs (miRNAs) are a class of short non-coding RNAs involved in the regulation of gene expression and the control of several cellular processes at physiological and pathological levels. Furthermore, extracellular vesicles (EV), which are small membrane-bound vesicles secreted by cells in the extracellular environment, contain functional miRNAs. The remarkable deregulation of many miRNAs has been demonstrated in respiratory diseases. Among them, miR-206, miR-133a-5p, and miR-133a-3p are striated muscle-specific miRNAs (myo-miRNA), related to skeletal muscle dysfunction, one of the commonest systemic manifestations in patients with chronic obstructive pulmonary disease (COPD). Nevertheless, their circulating expression in COPD patients is not demonstrated. For these reasons, we performed a pilot study to analyze the expression profiles of myo-miRNAs in plasma-derived EV from patients with COPD. We analyzed the expression profiles of selected myo-miRNAs in plasma-derived EV from COPD. Receiver operating characteristic analyses were carried out to evaluate whether selected plasma miRNAs were able to discriminate between different groups of COPD patients. We found EV-embedded myo-miRNAs in the bloodstream of COPD patients. Specifically, miR-206, miR-133a-5p and miR-133a-3p were significantly upregulated in group B patients. Receiver operating characteristic analyses of the combination of these selected miRNAs showed their high capacity to discriminate group B from other COPD patients. Our data provide evidence that myo-miRNA are present in EV in the plasma of COPD patients and their expression (miR-206, miR-133a-5p, and miR-133a-3p) can discriminate group B from group C patients. The future analysis of a larger number of patients should allow us to obtain more refined correlations. Full article
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8 pages, 2257 KiB  
Communication
Impact of Chromosome 9 Numerical Imbalances in Oral Squamous Cell Carcinoma: A Pilot Grid-Based Centromere Analysis
by Efthymios Kyrodimos, Aristeidis Chrysovergis, Nicholas Mastronikolis, Evangelos Tsiambas, Christos Riziotis, Dimitrios Roukas, Panagiotis Fotiades, Chara Stavraka, Vasileios Ragos, Minas Paschopoulos and Vasileios Papanikolaou
Diagnostics 2020, 10(7), 501; https://doi.org/10.3390/diagnostics10070501 - 21 Jul 2020
Cited by 2 | Viewed by 2287
Abstract
Oral squamous cell carcinoma (OSCC) is considered an aggressive malignancy, mainly due to its increased propensity to provide local and distant lymph node metastases. Gross chromosome instability (CI; polysomy/aneuploidy/monosomy), combined or not with specific gene alterations, is implicated in the development and progression [...] Read more.
Oral squamous cell carcinoma (OSCC) is considered an aggressive malignancy, mainly due to its increased propensity to provide local and distant lymph node metastases. Gross chromosome instability (CI; polysomy/aneuploidy/monosomy), combined or not with specific gene alterations, is implicated in the development and progression of solid malignancies, including OSCC. In order to further study the relationship between these genetic alterations and the aggressive biological behavior of OSCCs, we investigated the frequency and impact of chromosome 9 numerical imbalances in these tumors. Fifty (n = 50) formalin-fixed, paraffin-embedded primary OSCC tissue sections were used. Chromogenic in situ hybridization (CISH) was implemented for detecting chromosome 9 (CEN—centromere enumeration) numerical alterations. Concerning the screening process in CISH slides, a novel, real-time reference and calibration grid platform was implemented. Chromosome 9 polysomy was observed in 8/50 (16%) tissue sections, whereas the rest of them demonstrated a normal, diploid pattern (42/50; 84%). Chromosome 9 polysomy was associated with the grade of differentiation of the examined tumors (p = 0.036). Chromosome 9 numerical imbalances (polysomy) were observed in sub-groups of OSCCs correlating with a progressive dedifferentiation of the malignant tissues. Concerning the implementation of the proposed grid-based platform as described above on CISH slides, it provides a novel, fast, and accurate screening mapping mechanism for detecting chromosome numerical imbalances. Full article
(This article belongs to the Special Issue Biomarkers of Oral Cancer)
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12 pages, 1041 KiB  
Review
Simulation-Based Virtual-Reality Patient-Specific Rehearsal Prior to Endovascular Procedures: A Systematic Review
by Caroline Albrecht-Beste Nielsen, Lars Lönn, Lars Konge and Mikkel Taudorf
Diagnostics 2020, 10(7), 500; https://doi.org/10.3390/diagnostics10070500 - 20 Jul 2020
Cited by 15 | Viewed by 3046
Abstract
Patient-specific rehearsal (PsR) is a new concept whereby a procedure can be rehearsed virtually using the exact patient’s anatomical data prior to performing the real procedure. The aim of this study was to ascertain if endovascular virtual-reality PsR simulation enhanced performance in real [...] Read more.
Patient-specific rehearsal (PsR) is a new concept whereby a procedure can be rehearsed virtually using the exact patient’s anatomical data prior to performing the real procedure. The aim of this study was to ascertain if endovascular virtual-reality PsR simulation enhanced performance in real life. This was done by performing a systematic review following the preferred reporting items for systematic reviews and meta-analysis (PRISMA) guidelines. A literature search was conducted in PubMed, Embase, The Cochrane Library and Web of Science concerning PsR in endovascular procedures. All publications were handled using Covidence. Reference lists were also screened. Data extracted from the studies were realism rating, procedure time, fluoroscopy time, contrast volume, number of angiograms and reduction of errors. Kirkpatrick’s four-level model for measuring the efficiency of training was used for guidance of the relevance of studies. The search yielded 1155 results after the exclusion of duplicates, and 11 studies were included. Four studies had a control group, including one randomized trial; the remaining seven were feasibility studies. The realism was rated high, and overall, the studies showed improvements in procedure time, fluoroscopy time and contrast volume after PsR. One study assessed and confirmed the reduction in errors after PsR. Only two studies included more than 15 patients in their cohort. Kirkpatrick’s model was applied to all studies, with one study reaching level 4. All studies found the concept of PsR to be feasible and realistic. The studies with a control group showed a reduction of overall procedure time, radiation exposure and potential errors in endovascular procedures following PsR. Full article
(This article belongs to the Special Issue New Trends in Vascular Imaging)
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7 pages, 1340 KiB  
Article
Estimation of Cadaveric Age by Ultrasonography
by Hiroaki Ichioka, Daisuke Miyamori, Noboru Ishikawa, Risa Bandou, Nozomi Idota, Hiroki Kondou and Hiroshi Ikegaya
Diagnostics 2020, 10(7), 499; https://doi.org/10.3390/diagnostics10070499 - 20 Jul 2020
Cited by 4 | Viewed by 2181
Abstract
(1) Background: While decreasing bone mineral density (BMD) with age in living people has been well documented, a correlation between age and bone mineral density in deceased people has only been reported in a few studies. A correlation between age and BMD in [...] Read more.
(1) Background: While decreasing bone mineral density (BMD) with age in living people has been well documented, a correlation between age and bone mineral density in deceased people has only been reported in a few studies. A correlation between age and BMD in deceased people was investigated as an objective tool for age estimation of unidentified remains. (2) Methods: The Bone Area Ratio (BAR) was measured in 402 autopsy cases (143 females and 259 males over the age of 20). (3) Results: The correlation coefficient in the females was r = −0.5476, and the correlation coefficient in the males was r = −0.2166, indicating a stronger correlation in females than in males. A comparison of the BAR values in the deceased females for each age group with that in live females found no significant differences in the BAR values. BAR values in the deceased were similar to in live individuals, and this did not change with duration of the postmortem interval. (4) Conclusions: Measuring the BAR value based on bone mass using ultrasonic waves is rapid and easy, even for those lacking forensic training, and may be used to estimate the age of an individual and the likelihood of fracture due to trauma. Full article
(This article belongs to the Special Issue Progress in the Forensic Diagnosis)
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5 pages, 3548 KiB  
Interesting Images
COVID-19 Pneumonia: Three Thoracic Complications in the Same Patient
by Andrea Borghesi, Carlo Aggiusti, Davide Farina, Roberto Maroldi and Maria Lorenza Muiesan
Diagnostics 2020, 10(7), 498; https://doi.org/10.3390/diagnostics10070498 - 20 Jul 2020
Cited by 8 | Viewed by 4003
Abstract
The most dreaded thoracic complications in patients with coronavirus disease 2019 (COVID-19) are acute pulmonary embolism and pulmonary fibrosis. Both the complications are associated with an increased risk of morbidity and mortality. While acute pulmonary embolism is not a rare finding in patients [...] Read more.
The most dreaded thoracic complications in patients with coronavirus disease 2019 (COVID-19) are acute pulmonary embolism and pulmonary fibrosis. Both the complications are associated with an increased risk of morbidity and mortality. While acute pulmonary embolism is not a rare finding in patients with COVID-19 pneumonia, the prevalence of pulmonary fibrosis remains unclear. Spontaneous pneumothorax is another possible complication in COVID-19 pneumonia, although its observation is rather uncommon. Herein, we present interesting computed tomography images of the first case of COVID-19 pneumonia that initially developed acute pulmonary embolism and subsequently showed progression toward pulmonary fibrosis and spontaneous pneumothorax. Full article
(This article belongs to the Section Medical Imaging and Theranostics)
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13 pages, 839 KiB  
Article
Corneal In Vivo Laser-Scanning Confocal Microscopy Findings in Dry Eye Patients with Sjögren’s Syndrome
by Yukihiro Matsumoto, Osama M. A. Ibrahim, Takashi Kojima, Murat Dogru, Jun Shimazaki and Kazuo Tsubota
Diagnostics 2020, 10(7), 497; https://doi.org/10.3390/diagnostics10070497 - 20 Jul 2020
Cited by 24 | Viewed by 3147
Abstract
Purpose: To evaluate the changes in cornea in Sjögren’s syndrome (SS) with a novel confocal microscopy device. Methods: Twenty-three right eyes of patients with SS (23 women; mean age, 65.4 ± 11.4 years) and 13 right eyes of 13 age- and sex-matched control [...] Read more.
Purpose: To evaluate the changes in cornea in Sjögren’s syndrome (SS) with a novel confocal microscopy device. Methods: Twenty-three right eyes of patients with SS (23 women; mean age, 65.4 ± 11.4 years) and 13 right eyes of 13 age- and sex-matched control subjects (13 women; mean age, 68.8 ± 9.8 years) were studied. Furthermore, eight right eyes of patients with SS (8 women; mean age, 66.9 ± 9.6 years) were studied to evaluate the corneal microscopic alterations after the treatment with topical 3% diquafosol sodium eye drops. All cases had tear quantity, tear breakup time (BUT), ocular surface staining measurements, and corneal in vivo laser-scanning confocal microscopy examinations. The density and area of corneal epithelial cells (superficial, wing, and basal), density of corneal stromal cells (anterior, intermediate, and posterior), density and area of corneal endothelial cells, density and morphology of corneal sub-basal nerve plexus, density of corneal sub-basal inflammatory cells were also assessed. Results: The tear quantity, stability, and vital staining scores were significantly worse in patients with SS than in control subjects (p < 0.0001). Corneal superficial epithelial cell density was significantly lower in SS compared with control subjects (p < 0.0001). Corneal superficial epithelial cell area was significantly larger in SS compared with control subjects (p = 0.007). Corneal sub-basal nerve fiber density was lower in SS compared with control subjects (p < 0.0001). Morphological abnormality of nerve fibers was observed in SS patients. Corneal sub-basal inflammatory cell density was significantly higher in SS patients compared with control subjects (p < 0.0001). Furthermore, the mean corneal superficial epithelial cell density and area, inflammatory cell density, corneal sub-basal nerve fiber density, and morphological abnormality of nerve fibers, were improved with topical 3% diquafosol sodium treatment in the dry eye patients with SS (p < 0.05). Conclusions: The diagnostic modality using in vivo laser-scanning confocal microscopy was a useful method for the evaluation of the corneal cell density and area, nerve fiber density and morphology, and inflammatory cell density in patients with SS and also a useful tool in the assessment of treatment effect with topical 3% diquafosol sodium in the SS patients. Full article
(This article belongs to the Special Issue Dry Eye and Ocular Surface Disorders)
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11 pages, 799 KiB  
Article
Impact of Breast Density Awareness on Knowledge about Breast Cancer Risk Factors and the Self-Perceived Risk of Breast Cancer
by Kristina Bojanic, Sonja Vukadin, Filip Sarcevic, Luka Malenica, Kaja Grgic, Robert Smolic, Kristina Kralik, Ines Bilic Curcic, Gordana Ivanac, George Y. Wu and Martina Smolic
Diagnostics 2020, 10(7), 496; https://doi.org/10.3390/diagnostics10070496 - 20 Jul 2020
Cited by 6 | Viewed by 2708
Abstract
Breast density (BD) reduces sensitivity of mammography, and is a strong risk factor for breast cancer (BC). Data about women’s awareness and knowledge of BD are limited. Our aim is to examine whether the BD information disclosure and BD awareness among women without [...] Read more.
Breast density (BD) reduces sensitivity of mammography, and is a strong risk factor for breast cancer (BC). Data about women’s awareness and knowledge of BD are limited. Our aim is to examine whether the BD information disclosure and BD awareness among women without BC are related to their knowledge about BC risk factors. We examined self-reported BC risk perception and its association to BD awareness and level of health literacy. A cross-sectional, single site study included 263 Croatian women without BC who had mammographic examination. Data were collected by interviews using questionnaires and a validated survey. Of the total, 77.1% had never heard of BD, and 22.9% were aware of their BD. Most participants who knew their BD (88.2%, p < 0.001) had higher levels of education. Majority of subjects (66.8%) had non-dense breasts and 33.2% had dense breasts. Subjects aware of their BD knew that post-menopausal hormone replacement therapy (p = 0.04) and higher BD (p = 0.03) are BC risk factors. They could more easily access information about health promotion (p = 0.03). High-BD informed women assessed their lifetime BC risk as significantly higher than all others (p = 0.03). Comprehension of BD awareness and knowledge is crucial for reinforcement of educational strategies and development of amendatory BC screening decisions. Full article
(This article belongs to the Special Issue Multimodality Breast Imaging)
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12 pages, 2661 KiB  
Article
Two-Dimensional Image-Based Screening Tool for Infants with Positional Cranial Deformities: A Machine Learning Approach
by Cecilia A. Callejas Pastor, Il-Young Jung, Shinhye Seo, Soon Bin Kwon, Yunseo Ku and Jayoung Choi
Diagnostics 2020, 10(7), 495; https://doi.org/10.3390/diagnostics10070495 - 19 Jul 2020
Cited by 11 | Viewed by 6073
Abstract
Positional cranial deformities are relatively common conditions, characterized by asymmetry and changes in skull shape. Although three-dimensional (3D) scanning is the gold standard for diagnosing such deformities, it requires expensive laser scanners and skilled maneuvering. We therefore developed an inexpensive, fast, and convenient [...] Read more.
Positional cranial deformities are relatively common conditions, characterized by asymmetry and changes in skull shape. Although three-dimensional (3D) scanning is the gold standard for diagnosing such deformities, it requires expensive laser scanners and skilled maneuvering. We therefore developed an inexpensive, fast, and convenient screening method to classify cranial deformities in infants, based on single two-dimensional vertex cranial images. In total, 174 measurements from 80 subjects were recorded. Our screening software performs image processing and machine learning-based estimation related to the deformity indices of the cranial ratio (CR) and cranial vault asymmetry index (CVAI) to determine the severity levels of brachycephaly and plagiocephaly. For performance evaluations, the estimated CR and CVAI values were compared to the reference data obtained using a 3D cranial scanner. The CR and CVAI correlation coefficients obtained via support vector regression were 0.85 and 0.89, respectively. When the trained model was evaluated using the unseen test data for the three CR and three CVAI classes, an 86.7% classification accuracy of the proposed method was obtained for both brachycephaly and plagiocephaly. The results showed that our method for screening cranial deformities in infants could aid clinical evaluations and parental monitoring of the progression of deformities at home. Full article
(This article belongs to the Section Machine Learning and Artificial Intelligence in Diagnostics)
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8 pages, 685 KiB  
Article
Concurrent Validity of Digital Vascular Auscultation for the Assessment of Blood Flow Obliteration on the Radial Artery in Healthy Subjects
by María-Dolores Cortés-Vega, María Jesús Casuso-Holgado, Ángel Oliva-Pascual-Vaca, María-Isabel García-Bernal, Paula González-García and Cleofás Rodríguez-Blanco
Diagnostics 2020, 10(7), 494; https://doi.org/10.3390/diagnostics10070494 - 18 Jul 2020
Viewed by 2268
Abstract
This study aimed to determine the validity of digital vascular auscultation for the assessment of changes in the radial pulse in healthy subjects, using Doppler sonography as a validated test referent. Sixty-one non-symptomatic subjects (mean age of 52.5 ± 16.1 years) were assigned [...] Read more.
This study aimed to determine the validity of digital vascular auscultation for the assessment of changes in the radial pulse in healthy subjects, using Doppler sonography as a validated test referent. Sixty-one non-symptomatic subjects (mean age of 52.5 ± 16.1 years) were assigned and evaluated under one of the following conditions: In condition 1, blood flow of the radial artery was not modified; for condition 2, blood flow of the radial artery was modified using a pressure sleeve around the humerus. The radial pulse was then measured three times with each diagnostic tool by three different blinded evaluators. Both instruments demonstrated a high association between the identification of blood flow modifications or not and the assigned condition (p < 0.001). A strong concordance between the two devices when detecting the “changes” or “no changes” in blood flow was demonstrated (k = 0.936, p < 0.001). Stethoscope sensitivity was 95%, and specificity was 99%. In conclusion, digital vascular auscultation seems to be a valid technique to examine blood flow changes of the radial artery in non-symptomatic subjects, and it could be useful for physical therapists when combined with provocative tests for the screening of possible thoracic outlet syndrome in patients. Full article
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11 pages, 1204 KiB  
Article
Validation of the Use of Automated and Manual Quantitative Analysis of Corneal Nerve Plexus Following Refractive Surgery
by Jia Ying Chin, Lily Wei Yun Yang, Angel Jung Se Ji, Mario Nubile, Leonardo Mastropasqua, John Carson Allen, Jodhbir S. Mehta and Yu-Chi Liu
Diagnostics 2020, 10(7), 493; https://doi.org/10.3390/diagnostics10070493 - 18 Jul 2020
Cited by 21 | Viewed by 4214
Abstract
Following refractive surgery, the cornea is denervated and re-innervated, hence a reproducible tool to objectively quantify this change is warranted. This study aimed to determine the repeatability and reproducibility of corneal nerve quantification between automated (ACCMetrics) and manual software (CCMetrics) following refractive surgery. [...] Read more.
Following refractive surgery, the cornea is denervated and re-innervated, hence a reproducible tool to objectively quantify this change is warranted. This study aimed to determine the repeatability and reproducibility of corneal nerve quantification between automated (ACCMetrics) and manual software (CCMetrics) following refractive surgery. A total of 1007 in vivo confocal microscopy images from 20 post-small incision lenticule extraction (SMILE) or post-laser-assisted in situ keratomileusis (LASIK) patients were evaluated by two independent observers using CCMetrics for corneal nerve fibre density (CNFD), corneal nerve branch density (CNBD), and corneal nerve fibre length (CNFL). Intra-observer and inter-observer reproducibility and repeatability, as well as agreement and correlation between the measurements obtained by ACCMetrics and CCMetrics, were assessed. We found that CNFL demonstrated the best intra- and inter-observer agreement followed by CNFD (intra-class correlation coefficient (ICC) = 0.799 and 0.740, respectively for CNFL; 0.757 and 0.728 for CNFD). CNBD demonstrated poorest intra- and inter-observer ICC. There was an underestimation in ACCMetrics measurements compared to CCMetrics measurements, although the differences were not significant. Our data suggested that both automated and manual methods can be used as reliable tools for the evaluation of corneal nerve status following refractive surgery. However, the measurements obtained with different methods are not interchangeable. Full article
(This article belongs to the Special Issue Dry Eye and Ocular Surface Disorders)
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11 pages, 1479 KiB  
Article
Radiomics for Tumor Characterization in Breast Cancer Patients: A Feasibility Study Comparing Contrast-Enhanced Mammography and Magnetic Resonance Imaging
by Maria Adele Marino, Doris Leithner, Janice Sung, Daly Avendano, Elizabeth A. Morris, Katja Pinker and Maxine S. Jochelson
Diagnostics 2020, 10(7), 492; https://doi.org/10.3390/diagnostics10070492 - 18 Jul 2020
Cited by 27 | Viewed by 4824
Abstract
The aim of our intra-individual comparison study was to investigate and compare the potential of radiomics analysis of contrast-enhanced mammography (CEM) and dynamic contrast-enhanced magnetic resonance imaging (DCE-MRI) of the breast for the non-invasive assessment of tumor invasiveness, hormone receptor status, and tumor [...] Read more.
The aim of our intra-individual comparison study was to investigate and compare the potential of radiomics analysis of contrast-enhanced mammography (CEM) and dynamic contrast-enhanced magnetic resonance imaging (DCE-MRI) of the breast for the non-invasive assessment of tumor invasiveness, hormone receptor status, and tumor grade in patients with primary breast cancer. This retrospective study included 48 female patients with 49 biopsy-proven breast cancers who underwent pretreatment breast CEM and MRI. Radiomics analysis was performed by using MaZda software. Radiomics parameters were correlated with tumor histology (invasive vs. non-invasive), hormonal status (HR+ vs. HR−), and grading (low grade G1 + G2 vs. high grade G3). CEM radiomics analysis yielded classification accuracies of up to 92% for invasive vs. non-invasive breast cancers, 95.6% for HR+ vs. HR− breast cancers, and 77.8% for G1 + G2 vs. G3 invasive cancers. MRI radiomics analysis yielded classification accuracies of up to 90% for invasive vs. non-invasive breast cancers, 82.6% for HR+ vs. HR− breast cancers, and 77.8% for G1+G2 vs. G3 cancers. Preliminary results indicate a potential of both radiomics analysis of DCE-MRI and CEM for non-invasive assessment of tumor-invasiveness, hormone receptor status, and tumor grade. CEM may serve as an alternative to MRI if MRI is not available or contraindicated. Full article
(This article belongs to the Special Issue Multimodality Breast Imaging)
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15 pages, 1852 KiB  
Article
COLD-PCR Method for Early Detection of Antiviral Drug-Resistance Mutations in Treatment-Naive Children with Chronic Hepatitis B
by Thuy Thi Bich Phung, Son Van Chu, Son Thien Vu, Hanh Thi Pham, Hang Minh Nguyen, Hoan Dang Nguyen, Ngan Thi Le, Dung Van Nguyen, Phuong Thai Truong, Van Thi Tuong Vu and Anh Thi Van Nguyen
Diagnostics 2020, 10(7), 491; https://doi.org/10.3390/diagnostics10070491 - 18 Jul 2020
Cited by 5 | Viewed by 5137
Abstract
We investigated Nucleos(t)ide-analogue (NA)-resistance mutations (mt) in 142 treatment-naive children with Chronic Hepatitis B (CHB), using a sensitive co-amplification at lower denaturation temperature (COLD)-PCR with Sanger DNA sequencing. An NA resistance-associated mt in the hepatitis B virus (HBV) reverse transcriptase (RT) was found [...] Read more.
We investigated Nucleos(t)ide-analogue (NA)-resistance mutations (mt) in 142 treatment-naive children with Chronic Hepatitis B (CHB), using a sensitive co-amplification at lower denaturation temperature (COLD)-PCR with Sanger DNA sequencing. An NA resistance-associated mt in the hepatitis B virus (HBV) reverse transcriptase (RT) was found in 66.2% of the patients, with nonclassical mt contributing the most (64.8%). Significantly higher frequencies of Lamivudine (LMV) and Adefovir dipivoxil (ADF) resistance-associated mt were found in genotypes B and C, respectively (ORLMV/ADF: 1495.000; 95% CI: 89.800–24,889.032; p < 0.001). Single-point mt associated to LMV and ADF resistance were detected in 59.9% of the tested children with rtV207M (38.0%) and rtN238T (9.9%) being the most frequent. Multiple-point mt were found only in 8 cases (5.6%): 6 children carried double mt (rtV207M + rtL229V; rtV207M + rtI233V; rtV207I + rtV207M × 2 cases; rtV207M + rtS213T; rtN238A + rtS256G) relating to LMV or/and ADF resistance and 3 children carried triple mt (rtL180M + rtM204I + rtN238T; rtV207M + rtS213T + rtS256G) or quadruple mt (rtL180M + rtM204V + rtV207I/M) for LMV-ADF resistance and Entecavir-reduced susceptibility. Our data indicate that significantly higher frequencies of LMV and ADF-associated mutations were found in treatment-naïve children infected with HBV genotypes B and C, respectively. The developed COLD-PCR method and obtained data may contribute to the development of suitable treatments for children with CHB. Full article
(This article belongs to the Section Diagnostic Microbiology and Infectious Disease)
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12 pages, 1119 KiB  
Review
Animal Models for Studying Stone Disease
by Szu-Ju Chen, Kun-Yuan Chiu, Huey-Yi Chen, Wei-Yong Lin, Yung-Hsiang Chen and Wen-Chi Chen
Diagnostics 2020, 10(7), 490; https://doi.org/10.3390/diagnostics10070490 - 18 Jul 2020
Cited by 9 | Viewed by 3290
Abstract
Animals have stone disease too. There are several animal models for the research of human stone disease. Rodents are the most frequently used for stone research, although they are not prone to forming crystals in the kidneys. Ethylene glycol (EG), sodium oxalate and [...] Read more.
Animals have stone disease too. There are several animal models for the research of human stone disease. Rodents are the most frequently used for stone research, although they are not prone to forming crystals in the kidneys. Ethylene glycol (EG), sodium oxalate and l-hydroxyproline are common lithogenic agents. Dogs and pigs were also reported as a study animal for stone disease. However, the breeding costs and body size are too high. The most-used genetic study animal for stone disease was the mouse, but it was high-cost. Calcium oxalate (CaOx) crystals can also be light microscopically observed in the Malphigian tubules of Drosophila melanogaster, induced by adding EG to the food. Genetic studies of flies can be done by cross-breeding, and this has a lower cost than using mice. The fly model also has several advantages, including minimal breeding equipment, the fact that it is easier to reach larger numbers in a short time with flies, that crystals can be observed under microscopy, and that they allow genetic study. We suggest the fly will be an ideal animal model for stone research in the future. Full article
(This article belongs to the Special Issue Animal Models for Studying and Screening Human Diseases)
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13 pages, 602 KiB  
Review
Impact of Physical Activity on Cognitive Functions: A New Field for Research and Management of Cystic Fibrosis
by Valentina Elce, Alessandro Del Pizzo, Ersilia Nigro, Giulia Frisso, Lucia Martiniello, Aurora Daniele and Ausilia Elce
Diagnostics 2020, 10(7), 489; https://doi.org/10.3390/diagnostics10070489 - 18 Jul 2020
Cited by 9 | Viewed by 4295
Abstract
Cystic Fibrosis (CF) is a genetic disease inherited by an autosomal recessive mechanism and characterized by a progressive and severe multi-organ failure. Mutations in Cystic Fibrosis Conductance Regulator (CFTR) protein cause duct obstructions from dense mucus secretions and chronic inflammation related to organ [...] Read more.
Cystic Fibrosis (CF) is a genetic disease inherited by an autosomal recessive mechanism and characterized by a progressive and severe multi-organ failure. Mutations in Cystic Fibrosis Conductance Regulator (CFTR) protein cause duct obstructions from dense mucus secretions and chronic inflammation related to organ damage. The progression of the disease is characterized by a decline of lung function associated with metabolic disorders and malnutrition, musculoskeletal disorders and thoracic deformities, leading to a progressive decrement of the individual’s quality of life. The World Health Organization (WHO) qualifies Physical Activity (PA) as a structured activity produced by skeletal muscles’ movements that requires energy consumption. In the last decade, the number of studies on PA increased considerably, including those investigating the effects of exercise on cognitive and brain health and mental performance. PA is recommended in CF management guidelines, since it improves clinic outcomes, such as peripheral neuropathy, oxygen uptake peak, bone health, glycemic control and respiratory functions. Several studies regarding the positive effects of exercise in patients with Cystic Fibrosis were carried out, but the link between the effects of exercise and cognitive and brain health in CF remains unclear. Animal models showed that exercise might improve learning and memory through structural changes of brain architecture, and such a causal relationship can also be described in humans. Indeed, both morphological and environmental factors seem to be involved in exercise-induced neural plasticity. An increase of gray matter volume in specific areas is detectable as a consequence of regular training in humans. Neurobiological processes associated with brain function improvements include biochemical modifications, such as neuromodulator or neurohormone release, brain-derived neurotrophic factor (BDNF) production and synaptic activity changes. From a functional point of view, PA also seems to be an environmental factor enhancing cognitive abilities, such as executive functions, memory and processing speed. This review describes the current state of research regarding the impacts of physical activity and exercise on cognitive functions, introducing a possible novel field of research for optimizing the management of Cystic Fibrosis. Full article
(This article belongs to the Special Issue Diagnosis and Management of Cystic Fibrosis)
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3 pages, 174 KiB  
Editorial
Multidisciplinary Approach to Interstitial Lung Diseases: Nothing Is Better than All of Us Together
by Carlo Vancheri and Antonio Basile
Diagnostics 2020, 10(7), 488; https://doi.org/10.3390/diagnostics10070488 - 17 Jul 2020
Cited by 1 | Viewed by 2134
Abstract
Interstitial Lung Diseases (ILDs) are a large family of disorders characterized by inflammation and/or fibrosis of areas of the lung dedicated to gas exchange. In this Special Issue entitled “Clinical and Radiological Features of Interstitial Lung Diseases”, we collected a series of contributions [...] Read more.
Interstitial Lung Diseases (ILDs) are a large family of disorders characterized by inflammation and/or fibrosis of areas of the lung dedicated to gas exchange. In this Special Issue entitled “Clinical and Radiological Features of Interstitial Lung Diseases”, we collected a series of contributions in which a multidisciplinary approach was crucial for the correct diagnostic assessment of ILD. Sharing knowledge between different specialties can significantly improve diagnostic approaches and the management of ILD patients. Full article
(This article belongs to the Special Issue Clinical and Radiological Features of Interstitial Lung Diseases)
14 pages, 3804 KiB  
Article
Automatic Identification of Down Syndrome Using Facial Images with Deep Convolutional Neural Network
by Bosheng Qin, Letian Liang, Jingchao Wu, Qiyao Quan, Zeyu Wang and Dongxiao Li
Diagnostics 2020, 10(7), 487; https://doi.org/10.3390/diagnostics10070487 - 17 Jul 2020
Cited by 24 | Viewed by 4743
Abstract
Down syndrome is one of the most common genetic disorders. The distinctive facial features of Down syndrome provide an opportunity for automatic identification. Recent studies showed that facial recognition technologies have the capability to identify genetic disorders. However, there is a paucity of [...] Read more.
Down syndrome is one of the most common genetic disorders. The distinctive facial features of Down syndrome provide an opportunity for automatic identification. Recent studies showed that facial recognition technologies have the capability to identify genetic disorders. However, there is a paucity of studies on the automatic identification of Down syndrome with facial recognition technologies, especially using deep convolutional neural networks. Here, we developed a Down syndrome identification method utilizing facial images and deep convolutional neural networks, which quantified the binary classification problem of distinguishing subjects with Down syndrome from healthy subjects based on unconstrained two-dimensional images. The network was trained in two main steps: First, we formed a general facial recognition network using a large-scale face identity database (10,562 subjects) and then trained (70%) and tested (30%) a dataset of 148 Down syndrome and 257 healthy images curated through public databases. In the final testing, the deep convolutional neural network achieved 95.87% accuracy, 93.18% recall, and 97.40% specificity in Down syndrome identification. Our findings indicate that the deep convolutional neural network has the potential to support the fast, accurate, and fully automatic identification of Down syndrome and could add considerable value to the future of precision medicine. Full article
(This article belongs to the Section Machine Learning and Artificial Intelligence in Diagnostics)
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12 pages, 739 KiB  
Article
Site-Of-Care Viscoelastic Assay in Major Trauma Improves Outcomes and Is Cost Neutral Compared with Standard Coagulation Tests
by Catriona Cochrane, Shalini Chinna, Ju Young Um, Joao D. Dias, Jan Hartmann, Jim Bradley and Adam Brooks
Diagnostics 2020, 10(7), 486; https://doi.org/10.3390/diagnostics10070486 - 17 Jul 2020
Cited by 16 | Viewed by 6011
Abstract
Major hemorrhage is often associated with trauma-induced coagulopathy. Targeted blood product replacement could achieve faster hemostasis and reduce mortality. This study aimed to investigate whether thromboelastography (TEG®) goal-directed transfusion improved blood utilization, reduced mortality, and was cost effective. Data were prospectively [...] Read more.
Major hemorrhage is often associated with trauma-induced coagulopathy. Targeted blood product replacement could achieve faster hemostasis and reduce mortality. This study aimed to investigate whether thromboelastography (TEG®) goal-directed transfusion improved blood utilization, reduced mortality, and was cost effective. Data were prospectively collected in a U.K. level 1 trauma center, in patients with major hemorrhage one year pre- and post-implementation of TEG® 6s Hemostasis Analyzers. Mortality, units of blood products transfused, and costs were compared between groups. Patient demographics in pre-TEG (n = 126) and post-TEG (n = 175) groups were similar. Mortality was significantly lower in the post-TEG group at 24 h (13% vs. 5%; p = 0.006) and at 30 days (25% vs. 11%; p = 0.002), with no difference in the number or ratio of blood products transfused. Cost of blood products transfused was comparable, with the exception of platelets (average £38 higher post-TEG). Blood product wastage was significantly lower in the post-TEG group (1.8 ± 2.1 vs. 1.1 ± 2.0; p = 0.002). No statistically significant difference in cost was observed between the two groups (£753 ± 651 pre-TEG; £830 ± 847 post-TEG; p = 0.41). These results demonstrate TEG 6s-driven resuscitation algorithms are associated with reduced mortality, reduced blood product wastage, and are cost neutral compared to standard coagulation tests. Full article
(This article belongs to the Section Point-of-Care Diagnostics and Devices)
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21 pages, 553 KiB  
Review
Biobanks—A Platform for Scientific and Biomedical Research
by Kristina Malsagova, Artur Kopylov, Alexander Stepanov, Tatyana Butkova, Alexandra Sinitsyna, Alexander Izotov and Anna Kaysheva
Diagnostics 2020, 10(7), 485; https://doi.org/10.3390/diagnostics10070485 - 16 Jul 2020
Cited by 38 | Viewed by 6596
Abstract
The development of biomedical science requires the creation of biological material collections that allow for the search and discovery of biomarkers for pathological conditions, the identification of new therapeutic targets, and the validation of these findings in samples from patients and healthy people. [...] Read more.
The development of biomedical science requires the creation of biological material collections that allow for the search and discovery of biomarkers for pathological conditions, the identification of new therapeutic targets, and the validation of these findings in samples from patients and healthy people. Over the past decades, the importance and need for biobanks have increased considerably. Large national and international biorepositories have replaced small collections of biological samples. The aim of this work is to provide a basic understanding of biobanks and an overview of how biobanks have become essential structures in modern biomedical research. Full article
(This article belongs to the Section Pathology and Molecular Diagnostics)
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6 pages, 11177 KiB  
Case Report
Intramuscular Ganglion Cyst of the Flexor Hallucis Brevis Secondary to Muscle Tear: A Case Report
by Min Cheol Chang, Mathieu Boudier-Revéret and Ming-Yen Hsiao
Diagnostics 2020, 10(7), 484; https://doi.org/10.3390/diagnostics10070484 - 16 Jul 2020
Cited by 2 | Viewed by 7709
Abstract
In the current study, we present a case of an intramuscular ganglion cyst in the flexor hallucis brevis muscle (FHB) that arose secondary to a muscle tear. Through this study, we propose a possible aetiology for the development of intramuscular ganglionic cysts. A [...] Read more.
In the current study, we present a case of an intramuscular ganglion cyst in the flexor hallucis brevis muscle (FHB) that arose secondary to a muscle tear. Through this study, we propose a possible aetiology for the development of intramuscular ganglionic cysts. A 50-year-old woman presented with acute pain and swelling over the right mid-plantar area after prolonged kneeling for scrubbing floors. Ultrasonography examination performed at 5 days after the onset of symptoms revealed a partial tear of the right FHB. Follow-up evaluations were conducted, with magnetic resonance imaging and ultrasonography, at 24 and 54 days after symptom onset. MRI revealed a ganglion cyst in the mid-portion of the FHB without connection to the adjacent joint capsule or tendon sheath. On the ultrasonography examination at 45 days after onset, at the same location where a tear was seen on the initial examination, an anechoic defect in the mid-portion of the FHB was observed, compatible with a ganglion cyst. Given the favourable natural evolution, no aspiration or surgery were performed. The patient was discharged with minimal symptoms. The results suggest that the intramuscular ganglion cyst can develop following a muscle tear. Full article
(This article belongs to the Section Medical Imaging and Theranostics)
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19 pages, 2920 KiB  
Review
Cardiovascular Risk and Statin Therapy Considerations in Women
by Gina Gheorghe, Peter P. Toth, Simona Bungau, Tapan Behl, Madalina Ilie, Anca Pantea Stoian, Ovidiu Gabriel Bratu, Nicolae Bacalbasa, Marius Rus and Camelia Cristina Diaconu
Diagnostics 2020, 10(7), 483; https://doi.org/10.3390/diagnostics10070483 - 16 Jul 2020
Cited by 54 | Viewed by 6612
Abstract
Despite major progress in the prevention and treatment of cardiovascular diseases, women remain an underdiagnosed and insufficiently treated group, with higher hospitalization and death rates compared to men. Obesity, more frequently encountered in women, raises the risk of metabolic syndrome and cardiovascular diseases [...] Read more.
Despite major progress in the prevention and treatment of cardiovascular diseases, women remain an underdiagnosed and insufficiently treated group, with higher hospitalization and death rates compared to men. Obesity, more frequently encountered in women, raises the risk of metabolic syndrome and cardiovascular diseases as women age. There are some differences based on sex regarding the screening, diagnosis, and treatment of dyslipidemia, as it has been observed that women are less frequently prescribed statins and, when they are, they receive lower doses, even after myocardial infarction or coronary revascularization. Real-life data show that, compared to men, women are at higher risk of non-adherence to statin treatment and are more predisposed to discontinue treatment because of side effects. Statin metabolism has some particularities in women, due to a lower glomerular filtration rate, higher body fat percentage, and overall faster statin metabolism. In women of fertile age, before initiating statin treatment, contraception methods should be discussed because statins may have teratogenic effects. Older women have a higher likelihood of polypharmacy, with greater potential for drug interactions when prescribing a statin. Full article
(This article belongs to the Special Issue Cardio-Renal Metabolic Syndrome: Interdisciplinary Diagnostic Methods)
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12 pages, 2574 KiB  
Article
Subacute Changes in N-Acetylaspartate (NAA) Following Ischemic Stroke: A Serial MR Spectroscopy Pilot Study
by Ndaba Mazibuko, Ruth O’Gorman Tuura, Laszlo Sztriha, Owen O’Daly, Gareth J. Barker, Steven C. R. Williams, Michael O'Sullivan and Lalit Kalra
Diagnostics 2020, 10(7), 482; https://doi.org/10.3390/diagnostics10070482 - 16 Jul 2020
Cited by 11 | Viewed by 2899
Abstract
Preservation of neuronal tissue is crucial for recovery after stroke, but studies suggest that prolonged neuronal loss occurs following acute ischaemia. This study assessed the temporal pattern of neuronal loss in subacute ischemic stroke patients using 1H magnetic resonance spectroscopy, in parallel [...] Read more.
Preservation of neuronal tissue is crucial for recovery after stroke, but studies suggest that prolonged neuronal loss occurs following acute ischaemia. This study assessed the temporal pattern of neuronal loss in subacute ischemic stroke patients using 1H magnetic resonance spectroscopy, in parallel with functional recovery at 2, 6 and 12 weeks after stroke. Specifically, we measured N-acetylaspartate (NAA), choline, myoinositol, creatine and lactate concentrations in the ipsilesional and contralesional thalamus of 15 first-ever acute ischaemic stroke patients and 15 control participants and correlated MRS concentrations with motor recovery, measured at 12 weeks using the Fugl–Meyer scale. NAA in the ipsilesional thalamus fell significantly between 2 and 12 weeks (10.0 to 7.97 mmol/L, p = 0.003), while choline, myoinositol and lactate concentrations increased (p = 0.025, p = 0.031, p = 0.001, respectively). Higher NAA concentrations in the ipsilesional thalamus at 2 and 12 weeks correlated with higher Fugl Meyer scores at 12 weeks (p = 0.004 and p = 0.006, respectively). While these results should be considered preliminary given the modest sample size, the progressive fall in NAA and late increases in choline, myoinositol and lactate may indicate progressive non-ischaemic neuronal loss, metabolically depressed neurons and/or diaschisis effects, which have a detrimental effect on motor recovery. Interventions that can potentially limit this ongoing subacute tissue damage may improve stroke recovery. Full article
(This article belongs to the Special Issue Brain Imaging/Neuroimaging)
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9 pages, 1036 KiB  
Article
Peculiar Characteristics of Arteriovenous Malformations Arising in the Galenic Region
by Hirohisa Yajima, Yuki Shinya, Hirotaka Hasegawa, Masahiro Shin, Keisuke Ueki, Mariko Kawashima, Osamu Ishikawa and Nobuhito Saito
Diagnostics 2020, 10(7), 481; https://doi.org/10.3390/diagnostics10070481 - 15 Jul 2020
Cited by 2 | Viewed by 2545
Abstract
Arteriovenous malformations (AVM) are congenital vascular lesions fed by arterial feeders originating from branches of the internal carotid artery (ICA) or vertebrobasilar artery. We experienced unique AVMs arising in the midline Galenic region, receiving blood supply from the ICA/vertebral artery systems and the [...] Read more.
Arteriovenous malformations (AVM) are congenital vascular lesions fed by arterial feeders originating from branches of the internal carotid artery (ICA) or vertebrobasilar artery. We experienced unique AVMs arising in the midline Galenic region, receiving blood supply from the ICA/vertebral artery systems and the external carotid artery system. We retrospectively reviewed data on eight patients who had an AVM arising in the Galenic region and were treated in the University of Tokyo Hospital between 1990 and 2019. The median age at diagnosis was 62 years. Three cases (38%) presented with obstructive hydrocephalus due to aqueduct obstruction caused by an engorged vein of Galen. In all cases, feeders from dural arteries were present and the vein of Galen was the primary drainer. All patients underwent stereotactic radiosurgery. Five patients were followed for > two years; nidus obliteration was confirmed in one, and > 75% shrinkage was confirmed in three, while one patient died due to hemorrhage. Altogether, AVMs arising in the Galenic region are rare and exhibit several peculiar characteristics including the presence of dural feeders, an older age at presentation and presentation with obstructive hydrocephalus. Full article
(This article belongs to the Special Issue New Trends in Vascular Imaging)
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1 pages, 147 KiB  
Correction
Correction: Barak, S. et al. “Long-Term Outcomes of Early Enzyme Replacement Therapy for Mucopolysaccharidosis IV: Clinical Case Studies of Two Siblings”. Diagnostics 2020, 10, 108
by Sharon Barak, Yair Anikster, Ifat Sarouk, Eve Stern, Etzyona Eisenstein, Tamar Yissar, Nir Sherr-Lurie, Annick Raas-Rothschild and Dafna Guttman
Diagnostics 2020, 10(7), 480; https://doi.org/10.3390/diagnostics10070480 - 14 Jul 2020
Viewed by 1906
Abstract
The authors wish to make the following correction to this paper [...] Full article
(This article belongs to the Special Issue Mucopolysaccharidoses: Diagnosis, Treatment, and Management)
11 pages, 5858 KiB  
Article
Multidetector Computed Tomography with Dedicated Protocol for Breast Cancer Locoregional Staging: Feasibility Study
by Vinicius C. Felipe, Luciana Graziano, Paula N. V. P. Barbosa, Vinicius F. Calsavara and Almir G. V. Bitencourt
Diagnostics 2020, 10(7), 479; https://doi.org/10.3390/diagnostics10070479 - 14 Jul 2020
Cited by 5 | Viewed by 2697
Abstract
Background: The aim of this study was to demonstrate the feasibility of performing multidetector computed tomography (MDCT) with a dedicated protocol for locoregional staging in breast cancer patients. Methods: This prospective single-center study included newly diagnosed breast cancer patients submitted to contrast-enhanced chest [...] Read more.
Background: The aim of this study was to demonstrate the feasibility of performing multidetector computed tomography (MDCT) with a dedicated protocol for locoregional staging in breast cancer patients. Methods: This prospective single-center study included newly diagnosed breast cancer patients submitted to contrast-enhanced chest MDCT and breast magnetic resonance imaging (MRI). MDCT was performed in prone position and using subtraction techniques. Fleiss’ Kappa coefficient (K) and intraclass correlation coefficient (ICC) were used to assess agreement between MRI, MDCT, and pathology, when available. Results: Thirty-three patients were included (mean age: 47 years). Breast MRI and MDCT showed at least substantial agreement for evaluation of tumor extension (k = 0.674), presence of multifocality (k = 0.669), multicentricity (k = 0.857), nipple invasion (k = 1.000), skin invasion (k = 0.872), and suspicious level I axillary lymph nodes (k = 0.613). MDCT showed higher number of suspicious axillary lymph nodes than MRI, especially on levels II and III. Both methods had similar correlation with tumor size (MRI ICC: 0.807; p = 0.008 vs. MDCT ICC: 0.750; p = 0.020) and T staging (k = 0.699) on pathology. Conclusions: MDCT with dedicated breast protocol is feasible and showed substantial agreement with MRI features in stage II or III breast cancer patients. This method could potentially allow one-step locoregional and systemic staging, reducing costs and improving logistics for these patients. Full article
(This article belongs to the Special Issue Multimodality Breast Imaging)
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27 pages, 2631 KiB  
Review
A Broader Perspective on Anti-Ro Antibodies and Their Fetal Consequences—A Case Report and Literature Review
by Mihaela Roxana Popescu, Andreea Dudu, Ciprian Jurcut, Anca Marina Ciobanu, Ana-Maria Zagrean and Anca Maria Panaitescu
Diagnostics 2020, 10(7), 478; https://doi.org/10.3390/diagnostics10070478 - 14 Jul 2020
Cited by 18 | Viewed by 7671
Abstract
The presence of maternal Anti-Ro/Anti-La antibodies causes a passively acquired autoimmunity that may be associated with serious fetal complications. The classic example is the autoimmune-mediated congenital heart block (CHB) which is due in most cases to the transplacental passage of Anti-Ro/Anti-La antibodies. The [...] Read more.
The presence of maternal Anti-Ro/Anti-La antibodies causes a passively acquired autoimmunity that may be associated with serious fetal complications. The classic example is the autoimmune-mediated congenital heart block (CHB) which is due in most cases to the transplacental passage of Anti-Ro/Anti-La antibodies. The exact mechanisms through which these pathologic events arise are linked to disturbances in calcium channels function, impairment of calcium homeostasis and ultimately apoptosis, inflammation and fibrosis. CHB still represents a challenging diagnosis and a source of debate regarding the best management. As the third-degree block is usually irreversible, the best strategy is risk awareness and prevention. Although CHB is a rare occurrence, it affects one in 20,000 live births, with a high overall mortality rate (up to 20%, with 70% of in utero deaths). There is also concern over the lifelong consequences, as most babies need a pacemaker. This review aims to offer, apart from the data needed for a better understanding of the issue at hand, a broader perspective of the specialists directly involved in managing this pathology: the rheumatologist, the maternal–fetal specialist and the cardiologist. To better illustrate the theoretical facts presented, we also include a representative clinical case. Full article
(This article belongs to the Special Issue Fetal Medicine)
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8 pages, 264 KiB  
Article
A Vegan Athlete’s Heart—Is It Different? Morphology and Function in Echocardiography
by Wojciech Król, Szymon Price, Daniel Śliż, Damian Parol, Marcin Konopka, Artur Mamcarz, Marcin Wełnicki and Wojciech Braksator
Diagnostics 2020, 10(7), 477; https://doi.org/10.3390/diagnostics10070477 - 14 Jul 2020
Cited by 14 | Viewed by 12161
Abstract
Plant-based diets are a growing trend, including among athletes. This study compares the differences in physical performance and heart morphology and function between vegan and omnivorous amateur runners. A study group and a matched control group were recruited comprising N = 30 participants [...] Read more.
Plant-based diets are a growing trend, including among athletes. This study compares the differences in physical performance and heart morphology and function between vegan and omnivorous amateur runners. A study group and a matched control group were recruited comprising N = 30 participants each. Eight members of the study group were excluded, leaving N = 22 participants. Members of both groups were of similar age and trained with similar frequency and intensity. Vegans displayed a higher VO2max (54.08 vs. 50.10 mL/kg/min, p < 0.05), which correlated positively with carbohydrate intake (ρ = 0.52) and negatively with MUFA (monounsaturated fatty acids) intake (ρ = −0.43). The vegans presented a more eccentric form of remodelling with greater left ventricular end diastolic diameter (LVEDd, 2.93 vs. 2.81 cm/m2, p = 0.04) and a lower relative wall thickness (RWT, 0.39 vs. 0.42, p = 0.04) and left ventricular mass (LVM, 190 vs. 210 g, p = 0.01). The left ventricular mass index (LVMI) was similar (108 vs. 115 g/m2, p = NS). Longitudinal strain was higher in the vegan group (−20.5 vs. −19.6%, p = 0.04), suggesting better systolic function. Higher E-wave velocities (87 vs. 78 cm/s, p = 0.001) and E/e′ ratios (6.32 vs. 5.6, p = 0.03) may suggest better diastolic function in the vegan group. The results demonstrate that following a plant-based diet does not impair amateur athletes’ performance and influences both morphological and functional heart remodelling. The lower RWT and better LV systolic and diastolic function are most likely positive echocardiographic findings. Full article
(This article belongs to the Special Issue Diagnostic Challenges in Sports Cardiology)
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11 pages, 899 KiB  
Article
Breakfast Skipping in Female College Students Is a Potential and Preventable Predictor of Gynecologic Disorders at Health Service Centers
by Tomoko Fujiwara, Masanori Ono, Takashi Iizuka, Naomi Sekizuka-Kagami, Yoshiko Maida, Yumi Adachi, Hiroshi Fujiwara and Hiroaki Yoshikawa
Diagnostics 2020, 10(7), 476; https://doi.org/10.3390/diagnostics10070476 - 13 Jul 2020
Cited by 9 | Viewed by 6214
Abstract
Inadequate dietary habits in youth are known to increase the risk of onset of various diseases in adulthood. Previously, we found that female college students who skipped breakfast had higher incidences of dysmenorrhea, suggesting that breakfast skipping interferes with ovarian and uterine functions. [...] Read more.
Inadequate dietary habits in youth are known to increase the risk of onset of various diseases in adulthood. Previously, we found that female college students who skipped breakfast had higher incidences of dysmenorrhea, suggesting that breakfast skipping interferes with ovarian and uterine functions. Since dietary habits can be managed by education, it is preferable to establish a convenient screening system for meal skipping that is associated with dysmenorrhea as part of routine services of health service centers. In this study, we recruited 3172 female students aged from 18 to 25 at Kanazawa University and carried out an annual survey of the status of students’ health and lifestyle in 2019, by a questionnaire. We obtained complete responses from 3110 students and analyzed the relationship between dietary habits, such as meal skipping and history of dieting, and menstrual disorders, such as troubles or worries with menstruation, menstrual irregularity, menstrual pain, and use of oral contraceptives. The incidence of troubles or worries with menstruation was significantly higher in those with breakfast skipping (p < 0.05) and a history of dieting (p < 0.001). This survey successfully confirmed the positive relationship between breakfast skipping and menstrual pain (p < 0.001), indicating that this simple screening test is suitable for picking up breakfast skippers who are more prone to gynecologic disorders. In conclusions, since dysmenorrhea is one of the important clinical signs, breakfast skipping may become an effective marker to predict the subsequent onset of gynecological diseases at health service centers. Considering educational correction of meal skipping, breakfast skipping is a potential and preventable predictor that will contribute to managing menstrual disorders from a preventive standpoint in the future. Full article
(This article belongs to the Special Issue Diagnosis and Management for Obstetric and Gynecologic Diseases)
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