Diagnostics

9 pages, 2550 KiB

Open AccessCommunication

Cerebral [¹⁸F]-FDOPA Uptake in Autism Spectrum Disorder and Its Association with Autistic Traits

by Rik Schalbroeck, Lioe-Fee de Geus-Oei, Jean-Paul Selten, Maqsood Yaqub, Anouk Schrantee, Therese van Amelsvoort, Jan Booij and Floris H. P. van Velden

Diagnostics 2021, 11(12), 2404; https://doi.org/10.3390/diagnostics11122404 - 20 Dec 2021

Cited by 5 | Viewed by 2745

Abstract

Dopaminergic signaling is believed to be related to autistic traits. We conducted an exploratory 3,4-dihydroxy-6-[¹⁸F]-fluoro-L-phenylalanine positron emission tomography/computed tomography ([¹⁸F]-FDOPA PET/CT) study, to examine cerebral [¹⁸F]-FDOPA influx constant (k_i^cer min⁻¹), reflecting predominantly [...] Read more.

Dopaminergic signaling is believed to be related to autistic traits. We conducted an exploratory 3,4-dihydroxy-6-[¹⁸F]-fluoro-L-phenylalanine positron emission tomography/computed tomography ([¹⁸F]-FDOPA PET/CT) study, to examine cerebral [¹⁸F]-FDOPA influx constant (k_i^cer min⁻¹), reflecting predominantly striatal dopamine synthesis capacity and a mixed monoaminergic innervation in extrastriatal neurons, in 44 adults diagnosed with autism spectrum disorder (ASD) and 22 controls, aged 18 to 30 years. Autistic traits were assessed with the Autism Spectrum Quotient (AQ). Region-of-interest and voxel-based analyses showed no statistically significant differences in k_i^cer between autistic adults and controls. In autistic adults, striatal k_i^cer was significantly, negatively associated with AQ attention to detail subscale scores, although Bayesian analyses did not support this finding. In conclusion, among autistic adults, specific autistic traits can be associated with reduced striatal dopamine synthesis capacity. However, replication of this finding is necessary. Full article

(This article belongs to the Special Issue Quantitative PET and SPECT)

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9 pages, 4282 KiB

Open AccessArticle

BatchBMD as an Efficient and Accurate Dual-Energy X-ray Absorptiometry Report Generator

by Chun-Hsiang Chan, Wen-Chi Huang, Yi-Chien Lu, Hsing-Fen Hsiao and Wing P. Chan

Diagnostics 2021, 11(12), 2403; https://doi.org/10.3390/diagnostics11122403 - 20 Dec 2021

Viewed by 2640

Abstract

Dual-energy X-ray absorptiometry is the gold standard for evaluating Bone Mineral Density (BMD); however, a typical BMD report is generated in a time-inefficient manner and is prone to error. We developed a rule-based automated reporting system, BatchBMD, that accelerates DXA reporting while improving [...] Read more.

Dual-energy X-ray absorptiometry is the gold standard for evaluating Bone Mineral Density (BMD); however, a typical BMD report is generated in a time-inefficient manner and is prone to error. We developed a rule-based automated reporting system, BatchBMD, that accelerates DXA reporting while improving its accuracy over current systems. BatchBMD generates a structured report, customized to the specific clinical purpose. To compare BatchBMD to a Web-based Reporting (WBR) system for efficiency and accuracy, 500 examinations were randomly chosen from those performed at the Taipei Municipal Wanfang Hospital from January to March 2021. The final assessment included all 2326 examinations conducted from September 2020 to March 2021. The average reporting times were 6.7 and 10.8 min for BatchBMD and the WBR system, respectively, while accuracy was 99.4% and 98.2%, respectively. Most of the errors made by BatchBMD were digit errors in the appendicular skeletal muscle index. After correcting this, 100% accuracy across all 2326 examinations was validated. This automated and accurate BMD reporting system significantly reduces report production workload for radiologists and technicians while increasing productivity and quality. Additionally, the portable software, which employs a simple framework, can reduce deployment costs in clinical practice. Full article

(This article belongs to the Special Issue Computer Aided Diagnosis in Orthopaedics)

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10 pages, 837 KiB

Open AccessArticle

Detection and Outcome of Endocervical Atypia in Cytology in Primary HPV Screening Programme

by Johanna Pulkkinen, Saara Kares, Heini Huhtala and Ivana Kholová

Diagnostics 2021, 11(12), 2402; https://doi.org/10.3390/diagnostics11122402 - 20 Dec 2021

Cited by 7 | Viewed by 3021

Abstract

Most endocervical adenocarcinomas (EAC) are associated with high-risk HPV (hrHPV) infection, with HPV genotypes 16, 18 and 45 accounting for >90% of the cases. Among endocervical glandular lesions, screening with hrHPV test has previously shown to predict the outcome better than cytology, although [...] Read more.

Most endocervical adenocarcinomas (EAC) are associated with high-risk HPV (hrHPV) infection, with HPV genotypes 16, 18 and 45 accounting for >90% of the cases. Among endocervical glandular lesions, screening with hrHPV test has previously shown to predict the outcome better than cytology, although around one-fifth of the EAC remain negative both in hrHPV testing and cytology. The study consists of two consecutive HPV-primary screening rounds, conducted in 2012–2015 and 2017–2020. Of the 87 women aged 35 to 60 years of age diagnosed with Atypical endocervical cells, NOS or Atypical endocervical cells, favor neoplastic cytology during the first screening round, 63 (72.4%) were hrHPV positive and 24 (27.6%) were hrHPV negative. Among hrHPV positive patients, three EAC, two adenocarcinomas in situ (AIS), one AIS + high-grade intraepithelial lesion (HSIL) and 13 HSIL were found. Of the histologically verified lesions, 68.4% (13/19) were purely of squamous origin. All the EAC and AIS were HPV16 or HPV 18 positive. No high-grade histological lesions were found among the hrHPV negative patients with cytological glandular atypia. A later database search revealed one HPV-negative, gastric-type mucinous EAC that was missed by the HPV primary screening. Full article

(This article belongs to the Special Issue Cervical Cancer Screening, Management, and Prevention)

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11 pages, 1913 KiB

Open AccessArticle

A Retrospective Analysis of the Correlation between Functional Imaging and Clinical Outcomes in Grade 3 Neuroendocrine Tumors (NETs G3)

by Alice Laffi, Marzia Colandrea, Giuseppe Buonsanti, Samuele Frassoni, Vincenzo Bagnardi, Francesca Spada, Eleonora Pisa, Massimo Barberis, Manila Rubino, Chiara Maria Grana, Francesco Ceci and Nicola Fazio

Diagnostics 2021, 11(12), 2401; https://doi.org/10.3390/diagnostics11122401 - 20 Dec 2021

Cited by 3 | Viewed by 2390

Abstract

Grade 3 (G3) neuroendocrine tumors (NETs) are a novel category among digestive neuroendocrine neoplasms, characterized by Ki-67 >20% and a well-differentiated morphology, presenting high intra-tumor heterogeneity. We aimed to explore the role of dual-tracer PET imaging (⁶⁸Gallium (Ga)-DOTATOC and ¹⁸Fluorodeoxyglucose [...] Read more.

Grade 3 (G3) neuroendocrine tumors (NETs) are a novel category among digestive neuroendocrine neoplasms, characterized by Ki-67 >20% and a well-differentiated morphology, presenting high intra-tumor heterogeneity. We aimed to explore the role of dual-tracer PET imaging (⁶⁸Gallium (Ga)-DOTATOC and ¹⁸Fluorodeoxyglucose (FDG)) as overall survival (OS) predictor in NET G3 patients. We performed a retrospective analysis in NET G3 patients treated at our institution between 2003 and 2021. Accordingly, 30 NET G3 patients were analyzed. ⁶⁸Ga-DOTA-TOC and ¹⁸F-FDG uptake were assessed by tumor/non-tumor (T-nonT) ratio. We reported a slightly better OS for patients with ≥75% concordance between ⁶⁸Ga-DOTA-TOC and ¹⁸F-FDG PET/CT (p = 0.42). Among patients with discordant functional imaging, we reported a better 5-y OS rate for patients with a prevalent ⁶⁸Ga-DOTATOC vs. ¹⁸F-FDG PET/CT (p = 0.016). In positive ¹⁸F-FDG PET/CT cases, we reported a better OS for <4 vs. ≥4 T/non-T ratio (p = 0.021). Among upfront-NET G3 patients with concordant exams, 5-y OS rate was 83.3% (95% CI: 27.3–97.5). Among patients with discordant exams, 5-y OS rate was 81.3% (52.5–93.5), 100% for those with prevalent receptor expression, and 50% (11.1–80.4) for those with prevalent ¹⁸F-FDG uptake. Our findings suggest that dual-tracer PET/CT can be considered as a predictor of patient outcome, able to stratify NET G3 patients with poorer prognosis. Full article

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

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10 pages, 708 KiB

Open AccessArticle

Performance Evaluation of the KRYPTOR Compact PLUS Analyzer-Based B.R.A.H.M.S. CgA Ⅱ KRYPTOR Assay for Chromogranin A Measurement

by Yu Jeong Choi, Juhye Roh, Sinyoung Kim, Kyung-A Lee and Younhee Park

Diagnostics 2021, 11(12), 2400; https://doi.org/10.3390/diagnostics11122400 - 20 Dec 2021

Cited by 1 | Viewed by 3047

Abstract

Numerous immunoassays have been developed to measure the levels of chromogranin A (CgA), a useful biomarker for diagnosing and monitoring generally heterogeneous neuroendocrine tumors (NETs). Here, we evaluated the imprecision and linearity of three such assays: KRYPTOR (ThermoFisher Scientific), NEOLISA (EuroDiagnostica), and CgA-RIA [...] Read more.

Numerous immunoassays have been developed to measure the levels of chromogranin A (CgA), a useful biomarker for diagnosing and monitoring generally heterogeneous neuroendocrine tumors (NETs). Here, we evaluated the imprecision and linearity of three such assays: KRYPTOR (ThermoFisher Scientific), NEOLISA (EuroDiagnostica), and CgA-RIA (CisBio), using 123 samples for each assay. The correlation coefficients between the assays were 0.932 (CgA-RIA versus NEOLISA), 0.956 (KRYPTOR versus CgA-RIA), and 0.873 (NEOLISA versus KRYPTOR). KRYPTOR showed good precision, with percent coefficients of variation less than 5% for low and high concentration quality controls. Linearity was maintained over a wide concentration range. Comparison of CgA levels from three disease entities (NETs, non-NET pancreatic tumors, and prostate cancer) and healthy controls showed that patients with NETs had significantly higher CgA levels (n = 57, mean: 1.82 ± 0.43 log ng/mL) than healthy individuals (n = 20, mean: 1.51 ± 0.23 log ng/mL; p = 0.018). No other significant differences between groups were observed. All three immunoassays showed strong correlations in measured CgA levels. Because KRYPTOR operation uses a fully automated random-access system and requires shorter incubation times and smaller sample volumes, the KRYPTOR assay may improve laboratory workflow while maintaining satisfactory analytical performance. Full article

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

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9 pages, 1469 KiB

Open AccessArticle

Assessment of Retinal Capillary Dropout after Transcatheter Aortic Valve Implantation by Optical Coherence Tomography Angiography

by Jeanne Martine Gunzinger, Burbuqe Ibrahimi, Joel Baur, Maximilian Robert Justus Wiest, Marco Piccirelli, Athina Pangalu, Dominik Straumann, Fabian Nietlispach, Igal Moarof and Sandrine Anne Zweifel

Diagnostics 2021, 11(12), 2399; https://doi.org/10.3390/diagnostics11122399 - 20 Dec 2021

Cited by 7 | Viewed by 2640

Abstract

Transcatheter aortic valve implantation (TAVI) is an alternative to open heart surgery in the treatment of symptomatic aortic valve stenosis, which is often the treatment of choice in elderly and frail patients. It carries a risk of embolic complications in the whole cerebral [...] Read more.

Transcatheter aortic valve implantation (TAVI) is an alternative to open heart surgery in the treatment of symptomatic aortic valve stenosis, which is often the treatment of choice in elderly and frail patients. It carries a risk of embolic complications in the whole cerebral vascular bed, which includes the retinal vasculature. The main objective was the evaluation of retinal emboli visible on optical coherence tomography angiography (OCTA) following TAVI. This is a prospective, single center, observational study enrolling consecutive patients over two years. Patients were assessed pre- and post-TAVI. Twenty-eight patients were included in the final analysis, 82.1% were male, median age was 79.5 (range 52–88), median BCVA was 82.5 letters (range 75–93). Eight patients (28.6%) presented new capillary dropout lesions in their post-TAVI OCTA scans. There was no statistically significant change in BCVA. Quantitative analysis of macular or peripapillary OCTA parameters did not show any statistically significant difference in pre- and post-intervention. In conclusion, capillary dropout lesions could frequently be found in patients after TAVI. Quantitative measurements of macular and peripapillary flow remained stable, possibly indicating effective ocular blood flow regulation within the range of left ventricular ejection fraction in our cohort. Full article

(This article belongs to the Special Issue Optical Coherence Tomography Angiography (OCTA) as a New Diagnostic Tool in Ocular and Systemic Diseases)

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12 pages, 10438 KiB

Open AccessCase Report

Ultrasound Pitfalls in a Complex Fetal Cardiac Malformation—Case Report of a New Arteriovenous Central Communication

by Roxana Elena Bohîlțea, Adrian Dumitru, Radu Vlădăreanu, Liana Pleș, Tiberiu Augustin Georgescu, Ioan-Andrei Petrescu and Octavian Munteanu

Diagnostics 2021, 11(12), 2398; https://doi.org/10.3390/diagnostics11122398 - 20 Dec 2021

Cited by 1 | Viewed by 4754

Abstract

Cardiac and cardiovascular malformations are of real interest in terms of definition, epidemiology, and means of early diagnosis by imaging. Although ultrasound examination reaches exceptional performance nowadays, unusual pathologies are still exposed to the risk of either incorrect acquired image or misinterpretation by [...] Read more.

Cardiac and cardiovascular malformations are of real interest in terms of definition, epidemiology, and means of early diagnosis by imaging. Although ultrasound examination reaches exceptional performance nowadays, unusual pathologies are still exposed to the risk of either incorrect acquired image or misinterpretation by the specialist in a routine scan. Herein, we present a case of a 20-week-old fetus (from an apparently low-risk pregnancy) with complex cardiac and vascular abnormalities, including an arteriovenous malformation along with ventricular septal defect, ductal coarctation of the aorta, aneurysm of a brachiocephalic vein, and dilation of the entire neck and upper mediastinum venous system, and the limitations that were encountered in the process of diagnosis and management of the case. Full article

(This article belongs to the Special Issue Imaging of Fetal and Maternal Diseases in Pregnancy)

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Graphical abstract

16 pages, 2526 KiB

Open AccessSystematic Review

State-of-Art in the Age Determination of Venous Thromboembolism: A Systematic Review

by Nicola Di Fazio, Giuseppe Delogu, Costantino Ciallella, Martina Padovano, Federica Spadazzi, Paola Frati and Vittorio Fineschi

Diagnostics 2021, 11(12), 2397; https://doi.org/10.3390/diagnostics11122397 - 20 Dec 2021

Cited by 8 | Viewed by 3398

Abstract

Venous thromboembolism (VTE), consisting of deep vein thrombosis (DVT) and pulmonary embolism (PE), requires a forensic age determination to ascertain their causal relationship with recent events, such as trauma or medical treatment. The main objective of this systematic review is to identify the [...] Read more.

Venous thromboembolism (VTE), consisting of deep vein thrombosis (DVT) and pulmonary embolism (PE), requires a forensic age determination to ascertain their causal relationship with recent events, such as trauma or medical treatment. The main objective of this systematic review is to identify the current state-of-the-art immunohistochemical methods for age determination of fatal VTE. A literature search was performed through different databases, according to Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Within the study, we have selected only cases represented by deceased patients for DVT and/or PTE in which thromboembolic material was collected during an autoptic examination and then subjected to a histological and an immunohistochemical investigation. Studies based on animal models were not included. We assessed bias risk. A database-based search produced a total of 19 articles. After excluding duplicate items from the selection, 14 articles were reviewed. Ten articles were excluded because they did not meet the inclusion criteria. The results have pointed out 4 studies that were included in the present analysis for a total of 157 samples of DVT and 171 PTE samples. These were analyzed using traditional histological and immunohistochemical techniques. The results must be interpreted with a critical eye because of their heterogeneity in terms of time, geography, and study design. The present review highlights the importance of associating specific immunohistochemical markers with a histological analysis for the timing of DVT/PTE fatal events. Further future experiences will hopefully endorse actual knowledge on the subject to increase the accuracy in the assessment of thrombus-embolus age. Full article

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

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14 pages, 3142 KiB

Open AccessArticle

Machine Learning Approaches for Predicting Acute Respiratory Failure, Ventilator Dependence, and Mortality in Chronic Obstructive Pulmonary Disease

by Kuang-Ming Liao, Chung-Feng Liu, Chia-Jung Chen and Yu-Ting Shen

Diagnostics 2021, 11(12), 2396; https://doi.org/10.3390/diagnostics11122396 - 20 Dec 2021

Cited by 11 | Viewed by 3551

Abstract

Chronic obstructive pulmonary disease (COPD) is one of the leading causes of mortality and contributes to high morbidity worldwide. Patients with COPD have a higher risk for acute respiratory failure, ventilator dependence, and mortality after hospitalization compared with the general population. Accurate and [...] Read more.

Chronic obstructive pulmonary disease (COPD) is one of the leading causes of mortality and contributes to high morbidity worldwide. Patients with COPD have a higher risk for acute respiratory failure, ventilator dependence, and mortality after hospitalization compared with the general population. Accurate and early risk detection will provide more information for early management and better decision making. This study aimed to build prediction models using patients’ characteristics, laboratory data, and comorbidities for early detection of acute respiratory failure, ventilator dependence, and mortality in patients with COPD after hospitalization. We retrospectively collected the electronic medical records of 5061 patients with COPD in three hospitals of the Chi Mei Medical Group, Taiwan. After data cleaning, we built three prediction models for acute respiratory failure, ventilator dependence, and mortality using seven machine learning algorithms. Based on the AUC value, the best model for mortality was built by the XGBoost algorithm (AUC = 0.817), the best model for acute respiratory failure was built by random forest algorithm (AUC = 0.804), while the best model for ventilator dependence was built by LightGBM algorithm (AUC = 0.809). A web service application was implemented with the best models and integrated into the existing hospital information system for physician’s trials and evaluations. Our machine learning models exhibit excellent predictive quality and can therefore provide physicians with a useful decision-making reference for the adverse prognosis of COPD patients. Full article

(This article belongs to the Special Issue Artificial Intelligence in Lung Diseases)

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8 pages, 453 KiB

Open AccessArticle

Preimplantation Genetic Diagnosis in Hereditary Hearing Impairment

by Hsin-Lin Chen, Pei-Hsuan Lin, Yu-Ting Chiang, Wen-Jie Huang, Chi-Fang Lin, Gwo-Chin Ma, Shun-Ping Chang, Jun-Yang Fan, Shin-Yu Lin, Chen-Chi Wu and Ming Chen

Diagnostics 2021, 11(12), 2395; https://doi.org/10.3390/diagnostics11122395 - 20 Dec 2021

Cited by 5 | Viewed by 2980

Abstract

Sensorineural hearing impairment is a common sensory deficit in children and more than 50% of these cases are caused by genetic etiologies, that is, hereditary hearing impairment (HHI). Recent advances in genomic medicine have revolutionized the diagnostics of, and counseling for, HHI, including [...] Read more.

Sensorineural hearing impairment is a common sensory deficit in children and more than 50% of these cases are caused by genetic etiologies, that is, hereditary hearing impairment (HHI). Recent advances in genomic medicine have revolutionized the diagnostics of, and counseling for, HHI, including preimplantation genetic diagnosis (PGD), thus providing parents-to-be with better reproductive choices. Over the past decade, we have performed PGD using the amplification refractory mutation system quantitative polymerase chain reaction (ARMS-qPCR) technique in 11 couples with a history of HHI, namely eight with GJB2 variants, one with OTOF variants, one with SLC26A4 variants, and one with an MITF variant. We demonstrated that PGD can be successfully applied to HHI of different inheritance modes, namely autosomal dominant or recessive, and phenotypes, namely syndromic or non-syndromic HHI. However, certain ethical concerns warrant scrutiny before PGD can be widely applied to at-risk couples with a history of HHI. Full article

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

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10 pages, 2242 KiB

Open AccessReview

The Patent Ductus Arteriosus in Adults with Special Focus on Role of CT

by Soo Jeong Lee, Seung Min Yoo, Min Ji Son and Charles S. White

Diagnostics 2021, 11(12), 2394; https://doi.org/10.3390/diagnostics11122394 - 19 Dec 2021

Cited by 4 | Viewed by 5168

Abstract

The primary imaging modality for the diagnosis of patent ductus arteriosus (PDA) is echocardiography. However, CT may be the technique on which an incidental PDA is first recognized because of the increasing number of chest CT scans performed for a variety of causes. [...] Read more.

The primary imaging modality for the diagnosis of patent ductus arteriosus (PDA) is echocardiography. However, CT may be the technique on which an incidental PDA is first recognized because of the increasing number of chest CT scans performed for a variety of causes. Identification of PDA on CT may lead to earlier closure using a PDA occluder device. Immediate identification of incidental PDA is important, but a high rate of missed diagnosis of PDA has been reported due to its small size and anatomic location. In addition, echocardiography may overlook the presence of even a large PDA due to decrease in the amount of shunting through the PDA caused by high pulmonary artery pressures. This review provides the basic CT anatomy and clinical perspective of PDA, and discusses the role of CT in the evaluation of PDA as well as methods to avoid overlooking a small PDA on CT. Full article

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

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7 pages, 483 KiB

Open AccessArticle

Opportunistic Colonoscopy Cancer Screening Pays off in Romania—A Single-Centre Study

by Iulia Rațiu, Raluca Lupușoru, Prateek Vora, Alina Popescu, Ioan Sporea, Adrian Goldiș, Mirela Dănilă, Bogdan Miuțescu, Andreea Barbulescu, Madalina Hnatiuc, Razvan Diaconescu, Sorina Tăban, Fulger Lazar and Roxana Șirli

Diagnostics 2021, 11(12), 2393; https://doi.org/10.3390/diagnostics11122393 - 19 Dec 2021

Viewed by 2654

Abstract

Colorectal cancer (CRC) is the third most diagnosed cancer in men (after prostate and lung cancers) and in women (after breast and lung cancer). It is the second cause of cancer death in men (after lung cancer) and the third one in women [...] Read more.

Colorectal cancer (CRC) is the third most diagnosed cancer in men (after prostate and lung cancers) and in women (after breast and lung cancer). It is the second cause of cancer death in men (after lung cancer) and the third one in women (after breast and lung cancers). It is estimated that, in EU-27 countries in 2020, colorectal cancer accounted for 12.7% of all new cancer diagnoses and 12.4% of all deaths due to cancer. Our study aims to assess the opportunistic colorectal cancer screening by colonoscopy in a private hospital. A secondary objective of this study is to analyse the adenoma detection rate (ADR), polyp detection rate (PDR), and colorectal cancer (CRC) detection rate. We designed a retrospective single-centre study in the Gastroenterology Department of Saint Mary Hospital. The study population includes all individuals who performed colonoscopies in 2 years, January 2019–December 2020, addressed to our department by their family physician or came by themselves for a colonoscopy. One thousand seven hundred seventy-eight asymptomatic subjects underwent a colonoscopy for the first time. The mean age was 59.0 ± 10.9, 59.5% female. Eight hundred seventy-three polyps were found in 525 patients. Five hundred and twenty-five had at least one polyp, 185 patients had two polyps, 87 had three polyps, and 40 patients had more than three polyps. The PDR was 49.1%, ADR 39.0%, advanced adenomas in 7.9%, and carcinomas were found in 5.4% of patients. In a country without any colorectal cancer screening policy, polyps were found in almost half of the 1778 asymptomatic patients evaluated in a single private center, 39% of cases adenomas, and 5.4% colorectal cancer. Our study suggests starting screening colonoscopy at the age of 45. A poor bowel preparation significantly impacted the adenoma detection rate. Full article

(This article belongs to the Special Issue Clinical Impact of Endoscopy for the Diagnosis and Therapy of Oncological Patients)

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12 pages, 2114 KiB

Open AccessReview

New Approaches and Technologies to Improve Accuracy of Acute Otitis Media Diagnosis

by Susanna Esposito, Sonia Bianchini, Alberto Argentiero, Riccardo Gobbi, Claudio Vicini and Nicola Principi

Diagnostics 2021, 11(12), 2392; https://doi.org/10.3390/diagnostics11122392 - 19 Dec 2021

Cited by 8 | Viewed by 9285

Abstract

Several studies have shown that in recent years incidence of acute otitis media (AOM) has declined worldwide. However, related medical, social, and economic problems for patients, their families, and society remain very high. Better knowledge of potential risk factors for AOM development and [...] Read more.

Several studies have shown that in recent years incidence of acute otitis media (AOM) has declined worldwide. However, related medical, social, and economic problems for patients, their families, and society remain very high. Better knowledge of potential risk factors for AOM development and more effective preventive interventions, particularly in AOM-prone children, can further reduce disease incidence. However, a more accurate AOM diagnosis seems essential to achieve this goal. Diagnostic uncertainty is common, and to avoid risks related to a disease caused mainly by bacteria, several children without AOM are treated with antibiotics and followed as true AOM cases. The main objective of this manuscript is to discuss the most common difficulties that presently limit accurate AOM diagnosis and the new approaches and technologies that have been proposed to improve disease detection. We showed that misdiagnosis can be dangerous or lead to relevant therapeutic mistakes. The need to improve AOM diagnosis has allowed the identification of a long list of technologies to visualize and evaluate the tympanic membrane and to assess middle-ear effusion. Most of the new instruments, including light field otoscopy, optical coherence tomography, low-coherence interferometry, and Raman spectroscopy, are far from being introduced in clinical practice. Video-otoscopy can be effective, especially when it is used in association with telemedicine, parents’ cooperation, and artificial intelligence. Introduction of otologic telemedicine and use of artificial intelligence among pediatricians and ENT specialists must be strongly promoted in order to reduce mistakes in AOM diagnosis. Full article

(This article belongs to the Special Issue Advances in the Diagnosis and Management of ENT Diseases)

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10 pages, 1251 KiB

Open AccessArticle

Application of FTIR Spectroscopy for Quantitative Analysis of Blood Serum: A Preliminary Study

by Lyudmila V. Bel’skaya, Elena A. Sarf and Denis V. Solomatin

Diagnostics 2021, 11(12), 2391; https://doi.org/10.3390/diagnostics11122391 - 18 Dec 2021

Cited by 14 | Viewed by 6041

Abstract

The aim of this study was to analyze the possibility of simultaneous determination of the concentration of components from the characteristics of FTIR spectra using the example of a model blood serum. To prepare model solutions, a set of freeze-dried control sera based [...] Read more.

The aim of this study was to analyze the possibility of simultaneous determination of the concentration of components from the characteristics of FTIR spectra using the example of a model blood serum. To prepare model solutions, a set of freeze-dried control sera based on bovine blood serum was used, certified for approximately 38 parameters. Based on the values of the absorbance and areas of absorption bands in the FTIR spectra of model solutions, a regression equation was constructed by solving a nonlinear problem using the generalized reduced gradient method. By using the absorbance of the absorption bands at 1717 and 3903 cm⁻¹ and the areas of the absorption bands at 616, 3750, and 3903 cm⁻¹, it is possible to simultaneously determine the concentrations of 38 components with an error of less than 0.1%. The results obtained confirm the potential clinical use of FTIR spectroscopy as a reagent-free express method for the analysis of blood serum. However, its practical implementation requires additional research, in particular, analysis of real blood serum samples and validation of the method. Full article

(This article belongs to the Special Issue Biophotonics in Disease Diagnosis and Therapy)

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14 pages, 2052 KiB

Open AccessArticle

Plethysmography System to Monitor the Jugular Venous Pulse: A Feasibility Study

by Antonino Proto, Daniele Conti, Erica Menegatti, Angelo Taibi and Giacomo Gadda

Diagnostics 2021, 11(12), 2390; https://doi.org/10.3390/diagnostics11122390 - 18 Dec 2021

Cited by 8 | Viewed by 7131

Abstract

Cerebral venous outflow is investigated in the diagnosis of heart failure through the monitoring of jugular venous pulse, an indicator to assess cardiovascular diseases. The jugular venous pulse is a weak signal stemming from the lying internal jugular vein and often invasive methodologies [...] Read more.

Cerebral venous outflow is investigated in the diagnosis of heart failure through the monitoring of jugular venous pulse, an indicator to assess cardiovascular diseases. The jugular venous pulse is a weak signal stemming from the lying internal jugular vein and often invasive methodologies requiring surgery are mandatory to detect it. Jugular venous pulse can also be extrapolated via the ultrasound technique, but it requires a qualified healthcare operator to perform the examination. In this work, a wireless, user-friendly, wearable device for plethysmography is developed to investigate the possibility of monitoring the jugular venous pulse non-invasively. The proposed device can monitor the jugular venous pulse and the electrocardiogram synchronously. To study the feasibility of using the proposed device to detect physiological variables, several measurements were carried out on healthy subjects by considering three different postures: supine, sitting, and upright. Data acquired in the experiment were properly filtered to highlight the cardiac oscillation and remove the breathing contribution, which causes a considerable shift in the amplitude of signals. To evaluate the proper functioning of the wearable device for plethysmography, a comparison with the ultrasound technique was carried out. As a satisfactory result, the acquired signals resemble the typical jugular venous pulse waveforms found in literature. Full article

(This article belongs to the Special Issue Biomarkers of Vascular Diseases 2.0)

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11 pages, 1725 KiB

Open AccessCase Report

Prenatally Diagnosed Infantile Myofibroma of Sartorius Muscle—A Differential for Soft Tissue Masses in Early Infancy

by Ștefan Popa, Dan Apostol, Ovidiu Bîcă, Diana Benchia, Ioan Sârbu and Carmen Iulia Ciongradi

Diagnostics 2021, 11(12), 2389; https://doi.org/10.3390/diagnostics11122389 - 18 Dec 2021

Cited by 6 | Viewed by 2618

Abstract

Background: Infantile myofibromatosis (IM) is a soft tissue disease with solitary or multiple benign tumors, and an etiology still unknown. IM is a mesenchymal disorder of early infancy and is more frequent in males. IM may present as a solitary lesion of the [...] Read more.

Background: Infantile myofibromatosis (IM) is a soft tissue disease with solitary or multiple benign tumors, and an etiology still unknown. IM is a mesenchymal disorder of early infancy and is more frequent in males. IM may present as a solitary lesion of the skin, bone, muscle, subcutaneous tissue, located at the head, neck, and trunk, with good prognosis; or, as a multicentric form, with or without visceral involvement (heart, lung, gastrointestinal tract, kidney), with a poor prognosis. The definitive diagnosis of IM is confirmed by pathology. Treatment may be conservative, surgical, or chemotherapeutical. Case presentation: A two months old female patient, prenatally diagnosed at 30 weeks, presenting with a tumor on the antero-internal aspect of the left thigh. She was admitted due to rapid postnatal evolution, and the patient required surgery for tumor resection. Previously, clinically, biological and imaging investigations were performed, but the final diagnosis was histological and by immunostaining. The patient had a favorable postoperative outcome. Conclusions: Despite its low frequency, IM should be considered in the differential diagnosis of soft tissue masses at an early age. The clinical form (solitary or multicentric), location, and visceral involvement will dictate the treatment and prognosis. Full article

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

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12 pages, 1381 KiB

Open AccessArticle

Serum High-Sensitivity C-Reactive Protein Is Associated with Postoperative Psychiatric Status in Patients with Empty Nose Syndrome

by Chia-Hsiang Fu, Hung-Chin Chen, Chi-Che Huang, Po-Hung Chang and Ta-Jen Lee

Diagnostics 2021, 11(12), 2388; https://doi.org/10.3390/diagnostics11122388 - 18 Dec 2021

Cited by 5 | Viewed by 3611

Abstract

Many patients diagnosed with empty nose syndrome (ENS) later develop mental illness. The literature addressing biomarkers associated with postoperative psychiatric status is limited. This study aimed to assess the association between high-sensitivity C-reactive protein (hs-CRP) and psychiatric status after surgery in ENS. We [...] Read more.

Many patients diagnosed with empty nose syndrome (ENS) later develop mental illness. The literature addressing biomarkers associated with postoperative psychiatric status is limited. This study aimed to assess the association between high-sensitivity C-reactive protein (hs-CRP) and psychiatric status after surgery in ENS. We recruited patients with ENS undergoing endonasal submucosal implantation. Their pre- and postoperative psychiatric status was evaluated using the Beck depression inventory-II (BDI-II) and the Beck Anxiety Inventory (BAI). Serum hs-CRP was analyzed one day before and one year after surgery. Of the 43 patients enrolled, all subjective measurements had improved (symptom scores decreased) significantly by the third month postoperatively and remained plateaued till 12 months. Those with preoperative hs-CRP levels > 2.02 mg/L were likely to remain depressive 1 year postoperatively. The regression model showed that a preoperative hs-CRP level > 2.02 mg/L was significantly correlated with postoperative depression in patients with ENS (odds ratio, 19.9). Hs-CRP level seems to be a feasible predictor of surgical outcome regarding improved depression in patients with ENS. Patients with higher preoperative hs-CRP levels should be monitored closely after surgery. Full article

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

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10 pages, 1442 KiB

Open AccessArticle

Cumulative Effective Dose from Medical Imaging in Inflammatory Bowel Disease

by Agata Łukawska, Dominika Ślósarz, Aneta Zimoch, Karol Serafin, Elżbieta Poniewierka and Radosław Kempiński

Diagnostics 2021, 11(12), 2387; https://doi.org/10.3390/diagnostics11122387 - 18 Dec 2021

Cited by 2 | Viewed by 2381

Abstract

Inflammatory bowel diseases (IBD) are chronic and relapsing disorders usually requiring numerous medical imaging. IBD patients might be exposed to a large dose of radiation. As a cumulative effective dose (CED) ≥ 50 mSv is considered significant for stochastic risks of cancer, it [...] Read more.

Inflammatory bowel diseases (IBD) are chronic and relapsing disorders usually requiring numerous medical imaging. IBD patients might be exposed to a large dose of radiation. As a cumulative effective dose (CED) ≥ 50 mSv is considered significant for stochastic risks of cancer, it is important to monitor the radiation exposure of IBD patients. In the present work, we aimed to quantify the mean CED in IBD patients and identify factors associated with exposure to high doses of diagnostic radiation. A retrospective chart view of patients with IBD hospitalized between 2015 and 2019 was performed. A total of 65 patients with Crohn’s disease (CD) and 98 patients with ulcerative colitis (UC) were selected. Of all imaging studies performed, 73% were with doses of ionizing radiation. Mean CED (SD) amounted to 19.20 (15.64) millisieverts (mSv) and 6.66 (12.39) mSv, respectively, in patients with CD and UC (p < 0.00001). Only 1.84% of the patients received CED ≥ 50 mSv. We identified three factors associated with CED in the IBD patients: number of surgical procedures, and number and length of hospitalization. CD patients with strictures or penetrating disease and UC patients with extensive colitis were more likely to receive higher radiation doses. Full article

(This article belongs to the Topic Medical Image Analysis)

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11 pages, 288 KiB

Open AccessReview

Forensic Value of Genetic Variants Associated with Anti-Social Behavior

by Antonio Oliva, Simone Grassi, Massimo Zedda, Marco Molinari and Stefano Ferracuti

Diagnostics 2021, 11(12), 2386; https://doi.org/10.3390/diagnostics11122386 - 17 Dec 2021

Cited by 4 | Viewed by 3697

Abstract

Insanity defense is sometimes invoked in criminal cases, and its demonstration is usually based on a multifactorial contribution of behavioural, clinical, and neurological elements. Neuroradiological evidence of structural alterations in cerebral areas that involve decision-making and moral reasoning is often accepted as a [...] Read more.

Insanity defense is sometimes invoked in criminal cases, and its demonstration is usually based on a multifactorial contribution of behavioural, clinical, and neurological elements. Neuroradiological evidence of structural alterations in cerebral areas that involve decision-making and moral reasoning is often accepted as a useful tool in these evaluations. On the other hand, the genetic predisposition to anti-social behavior is still controversial. In this paper, we describe two cases of violent crimes committed by young carriers of genetic variants associated with personality disorder; both the defendants claimed to be insane at the time of the crime. We discuss these cases and review the scientific literature regarding the relationship between legal incapacity/predisposition to criminal behavior and genetic mutations. In conclusion, despite some genetic variants being able to influence several cognitive processes (like moral judgement and impulse control), there is currently no evidence that carriers of these mutations are, per se, incapable of intentionally committing crimes. Full article

(This article belongs to the Special Issue Progress in the Forensic Diagnosis 2.0)

13 pages, 2088 KiB

Open AccessArticle

Effects of Multi-Shell Free Water Correction on Glioma Characterization

by Lea Starck, Fulvio Zaccagna, Ofer Pasternak, Ferdia A. Gallagher, Renate Grüner and Frank Riemer

Diagnostics 2021, 11(12), 2385; https://doi.org/10.3390/diagnostics11122385 - 17 Dec 2021

Cited by 6 | Viewed by 2985

Abstract

Diffusion MRI is a useful tool to investigate the microstructure of brain tumors. However, the presence of fast diffusing isotropic signals originating from non-restricted edematous fluids, within and surrounding tumors, may obscure estimation of the underlying tissue characteristics, complicating the radiological interpretation and [...] Read more.

Diffusion MRI is a useful tool to investigate the microstructure of brain tumors. However, the presence of fast diffusing isotropic signals originating from non-restricted edematous fluids, within and surrounding tumors, may obscure estimation of the underlying tissue characteristics, complicating the radiological interpretation and quantitative evaluation of diffusion MRI. A multi-shell regularized free water (FW) elimination model was therefore applied to separate free water from tissue-related diffusion components from the diffusion MRI of 26 treatment-naïve glioma patients. We then investigated the diagnostic value of the derived measures of FW maps as well as FW-corrected tensor-derived maps of fractional anisotropy (FA). Presumed necrotic tumor regions display greater mean and variance of FW content than other parts of the tumor. On average, the area under the receiver operating characteristic (ROC) for the classification of necrotic and enhancing tumor volumes increased by 5% in corrected data compared to non-corrected data. FW elimination shifts the FA distribution in non-enhancing tumor parts toward higher values and significantly increases its entropy (p ≤ 0.003), whereas skewness is decreased (p ≤ 0.004). Kurtosis is significantly decreased (p < 0.001) in high-grade tumors. In conclusion, eliminating FW contributions improved quantitative estimations of FA, which helps to disentangle the cancer heterogeneity. Full article

(This article belongs to the Special Issue Brain Tumor Imaging)

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12 pages, 5403 KiB

Open AccessArticle

¹⁸F-Fluorocholine PET and 4D-CT in Patients with Persistent and Recurrent Primary Hyperparathyroidism

by Adrien Latge, Sophie Riehm, Michel Vix, Jacob Bani, Mihaela Ignat, Valentin Pretet, Mehdi Helali, Giorgio Treglia and Alessio Imperiale

Diagnostics 2021, 11(12), 2384; https://doi.org/10.3390/diagnostics11122384 - 17 Dec 2021

Cited by 14 | Viewed by 2892

Abstract

Patients with primary hyperparathyroidism (pHPT) can develop persistent (P-pHPT) or recurrent (R-pHPT) disease after parathyroidectomy. Before recommending reoperation, recurrence must be accurately identified because of the high risk of complications. Our study evaluates ¹⁸F-fluorocholine (¹⁸F-FCH) PET/CT and 4D-CT integrated in [...] Read more.

Patients with primary hyperparathyroidism (pHPT) can develop persistent (P-pHPT) or recurrent (R-pHPT) disease after parathyroidectomy. Before recommending reoperation, recurrence must be accurately identified because of the high risk of complications. Our study evaluates ¹⁸F-fluorocholine (¹⁸F-FCH) PET/CT and 4D-CT integrated in PET/4D-CT in patients with P-pHPT/R-pHPT. Patients with P-pHPT/R-pHPT investigated by ¹⁸F-FCH PET/4D-CT between May 2018 and March 2021 were retrospectively included. Forty-two patients were included, 37 of whom underwent 4D-CT. The sensitivity and detection rate (DR%) were 95% and 88% for ¹⁸F-FCH PET/CT and 70% and 63% for 4D-CT, respectively. PET/CT and 4D-CT were concordant in 18/24 glands and concordant and positive in 15/24 (63%) glands. Discordant results were obtained for 6/24 glands. The surgical success rate was 65%. PET/CT showed significantly higher sensitivity than 4D-CT. Dynamic CT allowed the identification of no additional glands missed by PET/CT, and the combination of the 2 techniques did not improve the sensitivity or DR%. ¹⁸F-FCH PET/CT appears to be a valuable technique to accurately detect hyperfunctioning parathyroid tissue in patients with P-pHPT/R-pHPT and is better than 4D-CT. Except for cases with doubtful locations of PET targets that may require 4D-CT for surgical guidance, standard nonenhanced ¹⁸F-FCH PET/CT can be effectively recommended in patients with P-pHPT/R-pHPT before reoperation. Full article

(This article belongs to the Special Issue Frontier of Endocrine Tumor Imaging)

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15 pages, 1561 KiB

Open AccessArticle

Deep Radiotranscriptomics of Non-Small Cell Lung Carcinoma for Assessing Molecular and Histology Subtypes with a Data-Driven Analysis

by Eleftherios Trivizakis, John Souglakos, Apostolos Karantanas and Kostas Marias

Diagnostics 2021, 11(12), 2383; https://doi.org/10.3390/diagnostics11122383 - 17 Dec 2021

Cited by 17 | Viewed by 3414

Abstract

Radiogenomic and radiotranscriptomic studies have the potential to pave the way for a holistic decision support system built on genomics, transcriptomics, radiomics, deep features and clinical parameters to assess treatment evaluation and care planning. The integration of invasive and routine imaging data into [...] Read more.

Radiogenomic and radiotranscriptomic studies have the potential to pave the way for a holistic decision support system built on genomics, transcriptomics, radiomics, deep features and clinical parameters to assess treatment evaluation and care planning. The integration of invasive and routine imaging data into a common feature space has the potential to yield robust models for inferring the drivers of underlying biological mechanisms. In this non-small cell lung carcinoma study, a multi-omics representation comprised deep features and transcriptomics was evaluated to further explore the synergetic and complementary properties of these diverse multi-view data sources by utilizing data-driven machine learning models. The proposed deep radiotranscriptomic analysis is a feature-based fusion that significantly enhances sensitivity by up to 0.174 and AUC by up to 0.22, compared to the baseline single source models, across all experiments on the unseen testing set. Additionally, a radiomics-based fusion was also explored as an alternative methodology yielding radiomic signatures that are comparable to several previous publications in the field of radiogenomics. Furthermore, the machine learning multi-omics analysis based on deep features and transcriptomics achieved an AUC performance of up to 0.831 ± 0.09/0.925 ± 0.04 for the examined molecular and histology subtypes analysis, respectively. The clinical impact of such high-performing models can add prognostic value and lead to optimal treatment assessment by targeting specific oncogenes, namely the response of tyrosine kinase inhibitors of EGFR mutated or predicting the chemotherapy resistance of KRAS mutated tumors. Full article

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

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15 pages, 369 KiB

Open AccessReview

Updates of Risk Factors for Anastomotic Leakage after Colorectal Surgery

by Eugenia Claudia Zarnescu, Narcis Octavian Zarnescu and Radu Costea

Diagnostics 2021, 11(12), 2382; https://doi.org/10.3390/diagnostics11122382 - 17 Dec 2021

Cited by 65 | Viewed by 9779

Abstract

Anastomotic leakage is a potentially severe complication occurring after colorectal surgery and can lead to increased morbidity and mortality, permanent stoma formation, and cancer recurrence. Multiple risk factors for anastomotic leak have been identified, and these can allow for better prevention and an [...] Read more.

Anastomotic leakage is a potentially severe complication occurring after colorectal surgery and can lead to increased morbidity and mortality, permanent stoma formation, and cancer recurrence. Multiple risk factors for anastomotic leak have been identified, and these can allow for better prevention and an earlier diagnosis of this significant complication. There are nonmodifiable factors such as male gender, comorbidities and distance of tumor from anal verge, and modifiable risk factors, including smoking and alcohol consumption, obesity, preoperative radiotherapy and preoperative use of steroids or non-steroidal anti-inflammatory drugs. Perioperative blood transfusion was shown to be an important risk factor for anastomotic failure. Recent studies on the laparoscopic approach in colorectal surgery found no statistical difference in anastomotic leakage rate compared with open surgery. A diverting stoma at the time of primary surgery does not appear to reduce the leak rate but may reduce its clinical consequences and the need for additional surgery if anastomotic leakage does occur. It is still debatable if preoperative bowel preparation should be used, especially for left colon and rectal resections, but studies have shown similar incidence of postoperative leak rate. Full article

(This article belongs to the Special Issue Abdominal Surgical Diseases: Diagnosis, Treatment and Management)

13 pages, 63858 KiB

Open AccessReview

Lung Ultrasound: A Diagnostic Leading Tool for SARS-CoV-2 Pneumonia: A Narrative Review

by Luigi Maggi, Anna Maria Biava, Silvia Fiorelli, Flaminia Coluzzi, Alberto Ricci and Monica Rocco

Diagnostics 2021, 11(12), 2381; https://doi.org/10.3390/diagnostics11122381 - 17 Dec 2021

Cited by 11 | Viewed by 3275

Abstract

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has spread worldwide causing a global pandemic. In this context, lung ultrasound (LUS) has played an important role due to its high diagnostic sensitivity, low costs, simplicity of execution and radiation safeness. Despite computed tomography (CT) [...] Read more.

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has spread worldwide causing a global pandemic. In this context, lung ultrasound (LUS) has played an important role due to its high diagnostic sensitivity, low costs, simplicity of execution and radiation safeness. Despite computed tomography (CT) being the imaging gold standard, lung ultrasound point of care exam is essential in every situation where CT is not readily available nor applicable. The aim of our review is to highlight the considerable versatility of LUS in diagnosis, framing the therapeutic route and follow-up for SARS-CoV-2 interstitial syndrome. Full article

(This article belongs to the Special Issue Lung Ultrasound: A Leading Diagnostic Tool)

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14 pages, 2439 KiB

Open AccessArticle

Diplopia Is Frequent and Associated with Motor and Non-Motor Severity in Parkinson’s Disease: Results from the COPPADIS Cohort at 2-Year Follow-Up

by Diego Santos García, Lucía Naya Ríos, Teresa de Deus Fonticoba, Carlos Cores Bartolomé, Lucía García Roca, Maria Feal Painceiras, Cristina Martínez Miró, Hector Canfield, Silvia Jesús, Miquel Aguilar, Pau Pastor, Marina Cosgaya, Juan García Caldentey, Nuria Caballol, Inés Legarda, Jorge Hernández Vara, Iria Cabo, Lydia López Manzanares, Isabel González Aramburu, María A. Ávila Rivera, Víctor Gómez Mayordomo, Víctor Nogueira, Víctor Puente, Julio Dotor, Carmen Borrué, Berta Solano Vila, María Álvarez Sauco, Lydia Vela, Sonia Escalante, Esther Cubo, Francisco Carrillo Padilla, Juan C. Martínez Castrillo, Pilar Sánchez Alonso, Maria G. Alonso Losada, Nuria López Ariztegui, Itziar Gastón, Jaime Kulisevsky, Marta Blázquez Estrada, Manuel Seijo, Javier Rúiz Martínez, Caridad Valero, Mónica Kurtis, Oriol de Fábregues, Jessica González Ardura, Ruben Alonso Redondo, Carlos Ordás, Luis M. López Díaz, Darrian McAfee, Pablo Martinez-Martin and Pablo Mir Show full author list Hide full author list

Diagnostics 2021, 11(12), 2380; https://doi.org/10.3390/diagnostics11122380 - 17 Dec 2021

Cited by 2 | Viewed by 2851

Abstract

Background and objective: Diplopia is relatively common in Parkinson’s disease (PD) but is still understudied. Our aim was to analyze the frequency of diplopia in PD patients from a multicenter Spanish cohort, to compare the frequency with a control group, and to identify [...] Read more.

Background and objective: Diplopia is relatively common in Parkinson’s disease (PD) but is still understudied. Our aim was to analyze the frequency of diplopia in PD patients from a multicenter Spanish cohort, to compare the frequency with a control group, and to identify factors associated with it. Patients and Methods: PD patients who were recruited from January 2016 to November 2017 (baseline visit; V0) and evaluated again at a 2-year ± 30 days follow-up (V2) from 35 centers of Spain from the COPPADIS cohort were included in this longitudinal prospective study. The patients and controls were classified as “with diplopia” or “without diplopia” according to item 15 of the Non-Motor Symptoms Scale (NMSS) at V0, V1 (1-year ± 15 days), and V2 for the patients and at V0 and V2 for the controls. Results: The frequency of diplopia in the PD patients was 13.6% (94/691) at V0 (1.9% in controls [4/206]; p < 0.0001), 14.2% (86/604) at V1, and 17.1% (86/502) at V2 (0.8% in controls [1/124]; p < 0.0001), with a period prevalence of 24.9% (120/481). Visual hallucinations at any visit from V0 to V2 (OR = 2.264; 95%CI, 1.269–4.039; p = 0.006), a higher score on the NMSS at V0 (OR = 1.009; 95%CI, 1.012–1.024; p = 0.015), and a greater increase from V0 to V2 on the Unified Parkinson’s Disease Rating Scale–III (OR = 1.039; 95%CI, 1.023–1.083; p < 0.0001) and Neuropsychiatric Inventory (OR = 1.028; 95%CI, 1.001–1.057; p = 0.049) scores were independent factors associated with diplopia (R² = 0.25; Hosmer and Lemeshow test, p = 0.716). Conclusions: Diplopia represents a frequent symptom in PD patients and is associated with motor and non-motor severity. Full article

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

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16 pages, 14892 KiB

Open AccessArticle

Multi-Focus Image Fusion Based on Convolution Neural Network for Parkinson’s Disease Image Classification

by Yin Dai, Yumeng Song, Weibin Liu, Wenhe Bai, Yifan Gao, Xinyang Dong and Wenbo Lv

Diagnostics 2021, 11(12), 2379; https://doi.org/10.3390/diagnostics11122379 - 17 Dec 2021

Cited by 16 | Viewed by 3235

Abstract

Parkinson’s disease (PD) is a common neurodegenerative disease that has a significant impact on people’s lives. Early diagnosis is imperative since proper treatment stops the disease’s progression. With the rapid development of CAD techniques, there have been numerous applications of computer-aided diagnostic (CAD) [...] Read more.

Parkinson’s disease (PD) is a common neurodegenerative disease that has a significant impact on people’s lives. Early diagnosis is imperative since proper treatment stops the disease’s progression. With the rapid development of CAD techniques, there have been numerous applications of computer-aided diagnostic (CAD) techniques in the diagnosis of PD. In recent years, image fusion has been applied in various fields and is valuable in medical diagnosis. This paper mainly adopts a multi-focus image fusion method primarily based on deep convolutional neural networks to fuse magnetic resonance images (MRI) and positron emission tomography (PET) neural photographs into multi-modal images. Additionally, the study selected Alexnet, Densenet, ResNeSt, and Efficientnet neural networks to classify the single-modal MRI dataset and the multi-modal dataset. The test accuracy rates of the single-modal MRI dataset are 83.31%, 87.76%, 86.37%, and 86.44% on the Alexnet, Densenet, ResNeSt, and Efficientnet, respectively. Moreover, the test accuracy rates of the multi-modal fusion dataset on the Alexnet, Densenet, ResNeSt, and Efficientnet are 90.52%, 97.19%, 94.15%, and 93.39%. As per all four networks discussed above, it can be concluded that the test results for the multi-modal dataset are better than those for the single-modal MRI dataset. The experimental results showed that the multi-focus image fusion method according to deep learning can enhance the accuracy of PD image classification. Full article

(This article belongs to the Special Issue Deep Learning in Neurodegenerative Disease Diagnostics)

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16 pages, 2083 KiB

Open AccessArticle

Different Rates of the SLC26A4-Related Hearing Loss in Two Indigenous Peoples of Southern Siberia (Russia)

by Valeriia Yu. Danilchenko, Marina V. Zytsar, Ekaterina A. Maslova, Marita S. Bady-Khoo, Nikolay A. Barashkov, Igor V. Morozov, Alexander A. Bondar and Olga L. Posukh

Diagnostics 2021, 11(12), 2378; https://doi.org/10.3390/diagnostics11122378 - 17 Dec 2021

Cited by 11 | Viewed by 3221

Abstract

Hereditary hearing loss (HL) is known to be highly locus/allelic heterogeneous, and the prevalence of different HL forms significantly varies among populations worldwide. Investigation of region-specific landscapes of hereditary HL is important for local healthcare and medical genetic services. Mutations in the SLC26A4 [...] Read more.

Hereditary hearing loss (HL) is known to be highly locus/allelic heterogeneous, and the prevalence of different HL forms significantly varies among populations worldwide. Investigation of region-specific landscapes of hereditary HL is important for local healthcare and medical genetic services. Mutations in the SLC26A4 gene leading to nonsyndromic recessive deafness (DFNB4) and Pendred syndrome are common genetic causes of hereditary HL, at least in some Asian populations. We present for the first time the results of a thorough analysis of the SLC26A4 gene by Sanger sequencing in the large cohorts of patients with HL of unknown etiology belonging to two neighboring indigenous Turkic-speaking Siberian peoples (Tuvinians and Altaians). A definite genetic diagnosis based on the presence of biallelic SLC26A4 mutations was established for 28.2% (62/220) of all enrolled Tuvinian patients vs. 4.3% (4/93) of Altaian patients. The rate of the SLC26A4-related HL in Tuvinian patients appeared to be one of the highest among populations worldwide. The SLC26A4 mutational spectrum was characterized by the presence of Asian-specific mutations c.919-2A>G and c.2027T>A (p.Leu676Gln), predominantly found in Tuvinian patients, and c.2168A>G (p.His723Arg), which was only detected in Altaian patients. In addition, a novel pathogenic variant c.1545T>G (p.Phe515Leu) was found with high frequency in Tuvinian patients. Overall, based on the findings of this study and our previous research, we were able to uncover the genetic causes of HL in 50.5% of Tuvinian patients and 34.5% of Altaian patients. Full article

(This article belongs to the Special Issue Genetic Testing for Rare Diseases)

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11 pages, 2482 KiB

Open AccessArticle

Virtual Non-Contrast versus True Non-Contrast Computed Tomography: Initial Experiences with a Photon Counting Scanner Approved for Clinical Use

by Julius Henning Niehoff, Matthias Michael Woeltjen, Kai Roman Laukamp, Jan Borggrefe and Jan Robert Kroeger

Diagnostics 2021, 11(12), 2377; https://doi.org/10.3390/diagnostics11122377 - 16 Dec 2021

Cited by 27 | Viewed by 4387

Abstract

The present study evaluates the diagnostic reliability of virtual non-contrast (VNC) images acquired with the first photon counting CT scanner that is approved for clinical use by comparing quantitative image properties of VNC and true non-contrast (TNC) images. Seventy-two patients were retrospectively enrolled [...] Read more.

The present study evaluates the diagnostic reliability of virtual non-contrast (VNC) images acquired with the first photon counting CT scanner that is approved for clinical use by comparing quantitative image properties of VNC and true non-contrast (TNC) images. Seventy-two patients were retrospectively enrolled in this study. VNC images reconstructed from the arterial (VNCa) and the portalvenous (VNCv) phase were compared to TNC images. In addition, consistency between VNCa and VNCv images was evaluated. Regions of interest (ROI) were drawn in the following areas: liver, spleen, kidney, aorta, muscle, fat and bone. Comparison of VNCa and VNCv images revealed a mean offset of less than 4 HU in all tissues. The greatest difference between TNC and VNC images was found in spongious bone (VNCv 86.13 HU ± 28.44, p < 0.001). Excluding measurements in spongious bone, differences between TNC and VNCv of 10 HU or less were found in 40% (VNCa 36%) and differences of 15 HU or less were found in 72% (VNCa 68%) of all measurements. The underlying algorithm for the subtraction of iodine works in principle but requires adjustments. Until then, special caution should be exercised when using VNC images in routine clinical practice. Full article

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

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15 pages, 2755 KiB

Open AccessArticle

Performance of Spectral Photon-Counting Coronary CT Angiography and Comparison with Energy-Integrating-Detector CT: Objective Assessment with Model Observer

by David C. Rotzinger, Damien Racine, Fabio Becce, Elias Lahoud, Klaus Erhard, Salim A. Si-Mohamed, Joël Greffier, Anaïs Viry, Loïc Boussel, Reto A. Meuli, Yoad Yagil, Pascal Monnin and Philippe C. Douek

Diagnostics 2021, 11(12), 2376; https://doi.org/10.3390/diagnostics11122376 - 16 Dec 2021

Cited by 30 | Viewed by 4203

Abstract

Aims: To evaluate spectral photon-counting CT’s (SPCCT) objective image quality characteristics in vitro, compared with standard-of-care energy-integrating-detector (EID) CT. Methods: We scanned a thorax phantom with a coronary artery module at 10 mGy on a prototype SPCCT and a clinical dual-layer EID-CT under [...] Read more.

Aims: To evaluate spectral photon-counting CT’s (SPCCT) objective image quality characteristics in vitro, compared with standard-of-care energy-integrating-detector (EID) CT. Methods: We scanned a thorax phantom with a coronary artery module at 10 mGy on a prototype SPCCT and a clinical dual-layer EID-CT under various conditions of simulated patient size (small, medium, and large). We used filtered back-projection with a soft-tissue kernel. We assessed noise and contrast-dependent spatial resolution with noise power spectra (NPS) and target transfer functions (TTF), respectively. Detectability indices (d’) of simulated non-calcified and lipid-rich atherosclerotic plaques were computed using the non-pre-whitening with eye filter model observer. Results: SPCCT provided lower noise magnitude (9–38% lower NPS amplitude) and higher noise frequency peaks (sharper noise texture). Furthermore, SPCCT provided consistently higher spatial resolution (30–33% better TTF₁₀). In the detectability analysis, SPCCT outperformed EID-CT in all investigated conditions, providing superior d’. SPCCT reached almost perfect detectability (AUC ≈ 95%) for simulated 0.5-mm-thick non-calcified plaques (for large-sized patients), whereas EID-CT had lower d’ (AUC ≈ 75%). For lipid-rich atherosclerotic plaques, SPCCT achieved 85% AUC vs. 77.5% with EID-CT. Conclusions: SPCCT outperformed EID-CT in detecting simulated coronary atherosclerosis and might enhance diagnostic accuracy by providing lower noise magnitude, markedly improved spatial resolution, and superior lipid core detectability. Full article

(This article belongs to the Special Issue Advances in Photon Counting Detector Imaging)

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18 pages, 6694 KiB

Open AccessArticle

Development and Validation of a Targeted ‘Liquid’ NGS Panel for Treatment Customization in Patients with Metastatic Colorectal Cancer

by Myrto Kastrisiou, George Zarkavelis, Anastasia Kougioumtzi, Prodromos Sakaloglou, Charilaos Kostoulas, Ioannis Georgiou, Anna Batistatou, George Pentheroudakis and Angeliki Magklara

Diagnostics 2021, 11(12), 2375; https://doi.org/10.3390/diagnostics11122375 - 16 Dec 2021

Cited by 3 | Viewed by 3231

Abstract

The detection of actionable mutations in tumor tissue is a prerequisite for treatment customization in patients with metastatic colorectal cancer (mCRC). Analysis of circulating tumor DNA (ctDNA) for the identification of such mutations in patients’ plasma is an attractive alternative to invasive tissue [...] Read more.

The detection of actionable mutations in tumor tissue is a prerequisite for treatment customization in patients with metastatic colorectal cancer (mCRC). Analysis of circulating tumor DNA (ctDNA) for the identification of such mutations in patients’ plasma is an attractive alternative to invasive tissue biopsies. Despite having the high analytical sensitivity required for ctDNA analysis, digital polymerase chain reaction (dPCR) technologies can only detect a very limited number of hotspot mutations, whilst a broader mutation panel is currently needed for clinical decision making. Recent advances in next-generation sequencing (NGS) have led to high-sensitivity platforms that allow screening of multiple genes at a single assay. Our goal was to develop a small, cost- and time-effective NGS gene panel that could be easily integrated in the day-to-day clinical routine in the management of patients with mCRC. We designed a targeted panel comprising hotspots in six clinically relevant genes (KRAS, NRAS, MET, BRAF, ERBB2 and EGFR) and validated it in a total of 68 samples from 30 patients at diagnosis, first and second disease progression. Results from our NGS panel were compared against plasma testing with BEAMing dPCR regarding the RAS gene status. The overall percent of agreement was 83.6%, with a positive and negative percent agreement of 74.3% and 96.2%, respectively. Further comparison of plasma NGS with standard tissue testing used in the clinic showed an overall percent agreement of 86.7% for RAS status, with a positive and negative percent agreement of 81.2% and 92.8%, respectively. Thus, our study strongly supports the validity and efficiency of an affordable targeted NGS panel for the detection of clinically relevant mutations in patients with mCRC. Full article

(This article belongs to the Special Issue Next-Generation Sequencing in Tumor Diagnosis and Treatment II)

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