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Patients with Axial Spondyloarthritis Show an Altered Flexion/Relaxation Phenomenon -
Morphological Changes in Lamellar Macular Holes According to SD-OCT Examination over a Long Observation Period -
Vessel Wall Inflammatory Activity as Determined by F-18 Fluorodeoxyglucose PET in Large Vessel Vasculitis Is Attenuated by Immunomodulatory Drugs -
Active Ratio Test (ART) as a Novel Diagnostic for Ovarian Cancer -
Anti-SARS-CoV-2 Antibodies Testing in Recipients of COVID-19 Vaccination: Why, When, and How?
Journal Description
Diagnostics
Diagnostics
is an international, peer-reviewed, open access journal on medical diagnosis published monthly online by MDPI.
- Open Access— free for readers, with article processing charges (APC) paid by authors or their institutions.
- High Visibility: indexed within Scopus, SCIE (Web of Science), PubMed, PMC, Embase, Inspec, CAPlus / SciFinder, and many other databases.
- Journal Rank: JCR - Q2 (Medicine, General & Internal)
- Rapid Publication: manuscripts are peer-reviewed and a first decision provided to authors approximately 15.9 days after submission; acceptance to publication is undertaken in 2.7 days (median values for papers published in this journal in the first half of 2021).
- Recognition of Reviewers: reviewers who provide timely, thorough peer-review reports receive vouchers entitling them to a discount on the APC of their next publication in any MDPI journal, in appreciation of the work done.
Impact Factor:
3.706 (2020)
;
5-Year Impact Factor:
3.674 (2020)
Latest Articles
Spontaneous Upper Urinary Tract Rupture Caused by Ureteric Stones: Clinical Characteristics and Validation of a Radiological Classification System
Diagnostics 2021, 11(9), 1568; https://doi.org/10.3390/diagnostics11091568 - 29 Aug 2021
Abstract
Background: This study seeks to validate a radiological classification system of spontaneous upper urinary tract rupture (sUUTR) and to analyse its relationship with clinical, laboratory and radiological characteristics of sUUTR. Methods: We analysed data from 66 patients with a computerised tomography (CT)-proven sUUTR
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Background: This study seeks to validate a radiological classification system of spontaneous upper urinary tract rupture (sUUTR) and to analyse its relationship with clinical, laboratory and radiological characteristics of sUUTR. Methods: We analysed data from 66 patients with a computerised tomography (CT)-proven sUUTR treated with ureteral or nephrostomy catheter positioning. Comorbidities were scored with the Charlson Comorbidity Index (CCI). All CT scans were reviewed by two experienced radiologists and one urologist, who classified sUUTR in (a) local spread, (b) free fluid and (c) urinoma. Interobserver agreement for radiological score was evaluated with the Intraclass Correlation Coefficient (ICC) and Cohen’s Kappa analyses. Descriptive statistics and logistic regression models verified the association between clinical variables and sUUTR severity. Results: The interobserver agreement for sUUTR classification was high among radiologists and between the radiologists and the urologist (all Kappa > 0.7), with an overall high interrater reliability (ICC 0.82). Local spread, free fluid and urinoma were found in 24 (36.4%), 39 (59.1%) and 3 (4.5%) cases, respectively. Patients with free fluid/urinoma had higher rate of CCI ≥ 1 than those with local spread (40.5% vs. 16.7%, p = 0.04). Intraoperative absence of urine extravasation was more frequently found in patients with local spread than those with free fluid/urinoma (66.7% vs. 28.6%, p < 0.01). Multivariable logistic regression analysis revealed that local spread (OR 4.5, p < 0.01) was associated with absence of contrast medium extravasation during pyelography, after accounting for stone size, fever and CCI. Conclusions: The analysed sUUTR classification score had good inter/intra-reader reliability among radiologists and urologists. Absence of urine extravasation was five times more frequent in patients with local spread, making conservative treatment feasible in these cases.
Full article
(This article belongs to the Section Medical Imaging)
Open AccessArticle
Performance of Seven SARS-CoV-2 Self-Tests Based on Saliva, Anterior Nasal and Nasopharyngeal Swabs Corrected for Infectiousness in Real-Life Conditions: A Cross-Sectional Test Accuracy Study
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Diagnostics 2021, 11(9), 1567; https://doi.org/10.3390/diagnostics11091567 - 28 Aug 2021
Abstract
Many studies reported good performance of nasopharyngeal swab-based antigen tests for detecting SARS-CoV-2-positive individuals; however, studies independently evaluating the quality of antigen tests utilizing anterior nasal swabs or saliva swabs are still rare, although such tests are widely used for mass testing. In
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Many studies reported good performance of nasopharyngeal swab-based antigen tests for detecting SARS-CoV-2-positive individuals; however, studies independently evaluating the quality of antigen tests utilizing anterior nasal swabs or saliva swabs are still rare, although such tests are widely used for mass testing. In our study, sensitivities, specificities and predictive values of seven antigen tests for detection of SARS-CoV-2 (one using nasopharyngeal swabs, two using anterior nasal swabs and four using saliva) were evaluated. In a setting of a high-capacity testing center, nasopharyngeal swabs for quantitative PCR (qPCR) were taken and, at the same time, antigen testing was performed in accordance with manufacturers’ instructions for the respective tests. In samples where qPCR and antigen tests yielded different results, virus culture was performed to evaluate the presence of the viable virus. Sensitivities and specificities of individual tests were calculated using both qPCR and qPCR corrected for viability as the reference. In addition, calculations were also performed for data categorized according to the cycle threshold and symptomatic status. The test using nasopharyngeal swabs yielded the best results (sensitivity of 80.6% relative to PCR and 91.2% when corrected for viability) while none of the remaining tests (anterior nasal swab or saliva-based tests) came even close to the WHO criteria for overall sensitivity. Hence, we advise caution when using antigen tests with alternative sampling methods without independent validation.
Full article
(This article belongs to the Special Issue SARS-CoV-2 Identification by Diagnostic/Medical Laboratory: Methods, Statistics, Interesting Cases)
Open AccessArticle
A Diagnostic Model to Predict SARS-CoV-2 Positivity in Emergency Department Using Routine Admission Hematological Parameters
Diagnostics 2021, 11(9), 1566; https://doi.org/10.3390/diagnostics11091566 - 28 Aug 2021
Abstract
Early detection of SARS-CoV-2 in the emergency department (ED) is a crucial necessity, especially in settings of overcrowding: establishing a pre-diagnostic test probability of infection would help to triage patients and reduce diagnostic errors, and it could be useful in resource-limited countries. Here,
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Early detection of SARS-CoV-2 in the emergency department (ED) is a crucial necessity, especially in settings of overcrowding: establishing a pre-diagnostic test probability of infection would help to triage patients and reduce diagnostic errors, and it could be useful in resource-limited countries. Here, we established and validated a clinical predictor of infection based on routine admission hematological parameters. The diagnostic model was developed by comparing 85 consecutive patients with symptomatic COVID-19 confirmed by RT-PCR with 85 symptomatic, SARS-CoV-2-negative controls. Abnormal hematological parameters significantly (p < 0.05) associated with SARS-CoV-2 infection were used to derive a “cumulative score” between 0 and 16. The model was validated in an independent cohort of 170 SARS-CoV-2-positive patients. Several routine hematology parameters were significantly (p < 0.05) associated with SARS-CoV-2 infection. A “cumulative score” score ≥7 discriminated COVID-19-postive patients from controls with a sensitivity of 94% and specificity of 100% (p < 0.001). The high sensitivity of the predictive model was confirmed in the prospective validation set, and the cumulative score (i) predicted SARS-CoV-2 positivity even when the first oro-nasopharyngeal swab RT-PCR result was reported as a false negative in both cohorts and (ii) resulted to be independent from disease severity. The cumulative score based on routine blood parameters can be used to predict an early and accurate diagnosis of SARS-CoV-2 infection in symptomatic patients, thereby facilitating triage and optimizing early management and isolation from the COVID-19 free population, particularly useful in overcrowding situations and in resource-poor settings.
Full article
(This article belongs to the Special Issue SARS-CoV-2 Identification by Diagnostic/Medical Laboratory: Methods, Statistics, Interesting Cases)
Open AccessArticle
Tumor Segmentation in Breast Ultrasound Image by Means of Res Path Combined with Dense Connection Neural Network
Diagnostics 2021, 11(9), 1565; https://doi.org/10.3390/diagnostics11091565 - 28 Aug 2021
Abstract
Over the past few years, researchers have demonstrated the possibilities to use the Computer-Aided Diagnosis (CAD) to provide a preliminary diagnosis. Recently, it is also becoming increasingly common for doctors and computer practitioners to collaborate on developing CAD. Since the early diagnosis of
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Over the past few years, researchers have demonstrated the possibilities to use the Computer-Aided Diagnosis (CAD) to provide a preliminary diagnosis. Recently, it is also becoming increasingly common for doctors and computer practitioners to collaborate on developing CAD. Since the early diagnosis of breast cancer is the most critical step, a precise segmentation of breast tumor with accurate edge and shape is vital for accurate diagnoses and reduction in the patients’ pain. In view of the deficient accuracy of existing method, we proposed a novel method based on U-Net to improve the tumor segmentation accuracy in breast ultrasound images. First, Res Path was introduced into the U-Net to reduce the difference between the feature maps of the encoder and decoder. Then, a new connection, dense block from the input of the feature maps in the encoding-to-decoding section, was added to reduce the feature information loss and alleviate the vanishing gradient problem. A breast ultrasound database, which contains 538 tumor images, from Xinhua Hospital in Shanghai and marked by two professional doctors was used to train and test models. We, using ten-fold cross-validation method, compared the U-Net, U-Net with Res Path, and the proposed method to verify the improvements. The results demonstrated an overall improvement by the proposed approach when compared with the other in terms of true-positive rate, false-positive rate, Hausdorff distance indices, Jaccard similarity, and Dice coefficients.
Full article
(This article belongs to the Section Machine Learning and Artificial Intelligence in Diagnostics)
Open AccessArticle
Logical Observation Identifiers Names and Codes (LOINC®) Applied to Microbiology: A National Laboratory Mapping Experience in Taiwan
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Diagnostics 2021, 11(9), 1564; https://doi.org/10.3390/diagnostics11091564 - 28 Aug 2021
Abstract
Background and Objective: Logical Observation Identifiers Names and Codes (LOINC) is a universal standard for identifying laboratory tests and clinical observations. It facilitates a smooth information exchange between hospitals, locally and internationally. Although it offers immense benefits for patient care, LOINC coding is
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Background and Objective: Logical Observation Identifiers Names and Codes (LOINC) is a universal standard for identifying laboratory tests and clinical observations. It facilitates a smooth information exchange between hospitals, locally and internationally. Although it offers immense benefits for patient care, LOINC coding is complex, resource-intensive, and requires substantial domain expertise. Our objective was to provide training and evaluate the performance of LOINC mapping of 20 pathogens from 53 hospitals participating in the National Notifiable Disease Surveillance System (NNDSS). Methods: Complete mapping codes for 20 pathogens (nine bacteria and 11 viruses) were requested from all participating hospitals to review between January 2014 and December 2016. Participating hospitals mapped those pathogens to LOINC terminology, utilizing the Regenstrief LOINC mapping assistant (RELMA) and reported to the NNDSS, beginning in January 2014. The mapping problems were identified by expert panels that classified frequently asked questionnaires (FAQs) into seven LOINC categories. Finally, proper and meaningful suggestions were provided based on the error pattern in the FAQs. A general meeting was organized if the error pattern proved to be difficult to resolve. If the experts did not conclude the local issue’s error pattern, a request was sent to the LOINC committee for resolution. Results: A total of 53 hospitals participated in our study. Of these, 26 (49.05%) used homegrown and 27 (50.95%) used outsourced LOINC mapping. Hospitals who participated in 2015 had a greater improvement in LOINC mapping than those of 2016 (26.5% vs. 3.9%). Most FAQs were related to notification principles (47%), LOINC system (42%), and LOINC property (26%) in 2014, 2015, and 2016, respectively. Conclusions: The findings of our study show that multiple stage approaches improved LOINC mapping by up to 26.5%.
Full article
(This article belongs to the Section Machine Learning and Artificial Intelligence in Diagnostics)
Open AccessArticle
Glycosaminoglycans as Biomarkers for Mucopolysaccharidoses and Other Disorders
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Diagnostics 2021, 11(9), 1563; https://doi.org/10.3390/diagnostics11091563 - 28 Aug 2021
Abstract
Glycosaminoglycans (GAGs) are present in proteoglycans, which play critical physiological roles in various tissues. They are known to be elevated in mucopolysaccharidoses (MPS), a group of rare inherited metabolic diseases in which the lysosomal enzyme required to break down one or more GAG
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Glycosaminoglycans (GAGs) are present in proteoglycans, which play critical physiological roles in various tissues. They are known to be elevated in mucopolysaccharidoses (MPS), a group of rare inherited metabolic diseases in which the lysosomal enzyme required to break down one or more GAG is deficient. In a previous study, we found elevation of GAGs in a subset of patients without MPS. In the current study, we aim to investigate serum GAG levels in patients with conditions beyond MPS. In our investigated samples, the largest group of patients had a clinical diagnosis of viral or non-viral encephalopathy. Clinical diagnoses and conditions also included epilepsy, fatty acid metabolism disorders, respiratory and renal disorders, liver disorders, hypoglycemia, developmental disorders, hyperCKemia, myopathy, acidosis, and vomiting disorders. While there was no conclusive evidence across all ages for any disease, serum GAG levels were elevated in patients with encephalopathy and some patients with other conditions. These preliminary findings suggest that serum GAGs are potential biomarkers in MPS and other disorders. In conclusion, we propose that GAGs elevated in blood can be used as biomarkers in the diagnosis and prognosis of various diseases in childhood; however, further designed experiments with larger sample sizes are required.
Full article
(This article belongs to the Special Issue Mucopolysaccharidoses: Diagnosis, Treatment, and Management 2.0)
Open AccessArticle
A Method for Detecting and Analyzing Facial Features of People with Drug Use Disorders
Diagnostics 2021, 11(9), 1562; https://doi.org/10.3390/diagnostics11091562 - 28 Aug 2021
Abstract
Drug use disorders caused by illicit drug use are significant contributors to the global burden of disease, and it is vital to conduct early detection of people with drug use disorders (PDUD). However, the primary care clinics and emergency departments lack simple and
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Drug use disorders caused by illicit drug use are significant contributors to the global burden of disease, and it is vital to conduct early detection of people with drug use disorders (PDUD). However, the primary care clinics and emergency departments lack simple and effective tools for screening PDUD. This study proposes a novel method to detect PDUD using facial images. Various experiments are designed to obtain the convolutional neural network (CNN) model by transfer learning based on a large-scale dataset (9870 images from PDUD and 19,567 images from GP (the general population)). Our results show that the model achieved 84.68%, 87.93%, and 83.01% in accuracy, sensitivity, and specificity in the dataset, respectively. To verify its effectiveness, the model is evaluated on external datasets based on real scenarios, and we found it still achieved high performance (accuracy > 83.69%, specificity > 90.10%, sensitivity > 80.00%). Our results also show differences between PDUD and GP in different facial areas. Compared with GP, the facial features of PDUD were mainly concentrated in the left cheek, right cheek, and nose areas (p < 0.001), which also reveals the potential relationship between mechanisms of drugs action and changes in facial tissues. This is the first study to apply the CNN model to screen PDUD in clinical practice and is also the first attempt to quantitatively analyze the facial features of PDUD. This model could be quickly integrated into the existing clinical workflow and medical care to provide capabilities.
Full article
(This article belongs to the Section Machine Learning and Artificial Intelligence in Diagnostics)
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Open AccessCase Report
An Atypical Case of Head Tremor and Extensive White Matter in an Adult Female Caused by 3-Hydroxy-3-methylglutaryl-Coa Lyase Deficiency
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Diagnostics 2021, 11(9), 1561; https://doi.org/10.3390/diagnostics11091561 - 28 Aug 2021
Abstract
3-Hydroxy 3-Methylglutaryl-CoA (HMG-CoA) Lyase deficiency (HMGLD) (OMIM 246450) is an autosomal recessive genetic disorder caused by homozygous or compound heterozygous variants in the HMGCL gene located on 1p36.11. Clinically, this disorder is characterized by a life-threatening metabolic intoxication with a presentation including severe
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3-Hydroxy 3-Methylglutaryl-CoA (HMG-CoA) Lyase deficiency (HMGLD) (OMIM 246450) is an autosomal recessive genetic disorder caused by homozygous or compound heterozygous variants in the HMGCL gene located on 1p36.11. Clinically, this disorder is characterized by a life-threatening metabolic intoxication with a presentation including severe hypoglycemia without ketosis, metabolic acidosis, hyper-ammoniemia, hepatomegaly and a coma. HMGLD clinical onset is within the first few months of life after a symptomatic free period. In nonacute periods, the treatment is based on a protein- and fat-restricted diet. L-carnitine supplementation is recommended. A late onset presentation has been described in very few cases, and only two adult cases have been reported. The present work aims to describe an incidental discovery of an HMGLD case in a 54-year-old patient and reports a comprehensive review of clinical and biological features in adult patients to raise awareness about the late-onset presentation of this disease.
Full article
(This article belongs to the Special Issue Genetic Testing for Rare Diseases)
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Open AccessCase Report
Novel Mutation in APC Gene Associated with Multiple Osteomas in a Family and Review of Genotype-Phenotype Correlations of Extracolonic Manifestations in Gardner Syndrome
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Diagnostics 2021, 11(9), 1560; https://doi.org/10.3390/diagnostics11091560 - 28 Aug 2021
Abstract
Gardner syndrome is a neoplasic disease that associates intestinal polyposis and colorectal adenocarcinoma with osteomas and soft tissue tumors determined by germline mutations in the APC gene. The early diagnosis and identification of high-risk individuals are important because patients have a 100% risk
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Gardner syndrome is a neoplasic disease that associates intestinal polyposis and colorectal adenocarcinoma with osteomas and soft tissue tumors determined by germline mutations in the APC gene. The early diagnosis and identification of high-risk individuals are important because patients have a 100% risk of colon cancer. We present the case of a family with Gardner syndrome. Cephalometric, panoramic X-rays and CBCT of the proband and her brother showed multiple osteomas affecting the skull bones, mandible and paranasal sinuses. The detailed family history showed an autosomal dominant transmission with the presence of the disease in the mother and maternal grandfather of the proband. Both had the typical signs of disease and died in the fourth decade of life. Based on these aspects the clinical diagnosis was Gardner syndrome. By gene sequencing, a novel pathogenic variant c.4609dup (p.Thr1537Asnfs*7) in heterozygous status was identified in the APC gene in both siblings. We reviewed literature data concerning the correlation between the localization of mutations in the APC gene and the extracolonic manifestations of familial adenomatous polyposis as well as their importance in early diagnosis and adequate oncological survey of patients and families based on abnormal genomic variants.
Full article
(This article belongs to the Section Medical Imaging)
Open AccessReview
Hemodynamic Monitoring in Sepsis—A Conceptual Framework of Macro- and Microcirculatory Alterations
Diagnostics 2021, 11(9), 1559; https://doi.org/10.3390/diagnostics11091559 - 28 Aug 2021
Abstract
Circulatory failure in sepsis is common and places a considerable burden on healthcare systems. It is associated with an increased likelihood of mortality, and timely recognition is a prerequisite to ensure optimum results. While there is consensus that aggressive source control, adequate antimicrobial
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Circulatory failure in sepsis is common and places a considerable burden on healthcare systems. It is associated with an increased likelihood of mortality, and timely recognition is a prerequisite to ensure optimum results. While there is consensus that aggressive source control, adequate antimicrobial therapy and hemodynamic management constitute crucial determinants of outcome, discussion remains about the best way to achieve each of these core principles. Sound cardiovascular support rests on tailored fluid resuscitation and vasopressor therapy. To this end, an overarching framework to improve cardiovascular dynamics has been a recurring theme in modern critical care. The object of this review is to examine the nature of one such framework that acknowledges the growing importance of adaptive hemodynamic support combining macro- and microhemodynamic variables to produce adequate tissue perfusion.
Full article
(This article belongs to the Special Issue Multimodal Diagnostic Methods in Sepsis in the Critically Ill Patients)
Open AccessReview
Pulmonary Sarcoidosis: Diagnosis and Differential Diagnosis
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Diagnostics 2021, 11(9), 1558; https://doi.org/10.3390/diagnostics11091558 - 28 Aug 2021
Abstract
Sarcoidosis is a multisystem disorder of unknown origin and poorly understood pathogenesis that predominantly affects lungs and intrathoracic lymph nodes and is characterized by the presence of noncaseating granulomatous inflammation in involved organs. The disease is highly heterogeneous and can mimic a plethora
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Sarcoidosis is a multisystem disorder of unknown origin and poorly understood pathogenesis that predominantly affects lungs and intrathoracic lymph nodes and is characterized by the presence of noncaseating granulomatous inflammation in involved organs. The disease is highly heterogeneous and can mimic a plethora of other disorders, making diagnosis a challenge even for experienced physicians. The evolution and severity of sarcoidosis are highly variable: many patients are asymptomatic and their disease course is generally benign with spontaneous resolution. However, up to one-third of patients develop chronic or progressive disease mainly due to pulmonary or cardiovascular complications that require long-term therapy. The diagnosis of sarcoidosis requires histopathological evidence of noncaseating granulomatous inflammation in one or more organs coupled with compatible clinical and radiological features and the exclusion of other causes of granulomatous inflammation; however, in the presence of typical disease manifestations such as Löfgren’s syndrome, Heerfordt’s syndrome, lupus pernio and asymptomatic bilateral and symmetrical hilar lymphadenopathy, the diagnosis can be established with high level of certainty on clinical grounds alone. This review critically examines the diagnostic approach to sarcoidosis and emphasizes the importance of a careful exclusion of alternative diagnoses.
Full article
(This article belongs to the Special Issue Diagnosis and Management of Sarcoidosis)
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Open AccessArticle
Faster Region-Based Convolutional Neural Network in the Classification of Different Parkinsonism Patterns of the Striatum on Maximum Intensity Projection Images of [18F]FP-CIT Positron Emission Tomography
Diagnostics 2021, 11(9), 1557; https://doi.org/10.3390/diagnostics11091557 - 28 Aug 2021
Abstract
The aim of this study was to compare the performance of a deep-learning convolutional neural network (Faster R-CNN) model to detect imaging findings suggestive of idiopathic Parkinson’s disease (PD) based on [18F]FP-CIT PET maximum intensity projection (MIP) images versus that of
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The aim of this study was to compare the performance of a deep-learning convolutional neural network (Faster R-CNN) model to detect imaging findings suggestive of idiopathic Parkinson’s disease (PD) based on [18F]FP-CIT PET maximum intensity projection (MIP) images versus that of nuclear medicine (NM) physicians. The anteroposterior MIP images of the [18F]FP-CIT PET scan of 527 patients were classified as having PD (139 images) or non-PD (388 images) patterns according to the final diagnosis. Non-PD patterns were classified as overall-normal (ONL, 365 images) and vascular parkinsonism with definite defects or prominently decreased dopamine transporter binding (dVP, 23 images) patterns. Faster R-CNN was trained on 120 PD, 320 ONL, and 16 dVP pattern images and tested on the 19 PD, 45 ONL, and seven dVP patterns images. The performance of the Faster R-CNN and three NM physicians was assessed using receiver operating characteristics curve analysis. The difference in performance was assessed using Cochran’s Q test, and the inter-rater reliability was calculated. Faster R-CNN showed high accuracy in differentiating PD from non-PD patterns and also from dVP patterns, with results comparable to those of NM physicians. There were no significant differences in the area under the curve and performance. The inter-rater reliability among Faster R-CNN and NM physicians showed substantial to almost perfect agreement. The deep-learning model accurately differentiated PD from non-PD patterns on MIP images of [18F]FP-CIT PET, and its performance was comparable to that of NM physicians.
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(This article belongs to the Section Medical Imaging)
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Open AccessArticle
Diagnostic Accuracy of CareStart™ Malaria HRP2 and SD Bioline Pf/PAN for Malaria in Febrile Outpatients in Varying Malaria Transmission Settings in Cameroon
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Diagnostics 2021, 11(9), 1556; https://doi.org/10.3390/diagnostics11091556 - 27 Aug 2021
Abstract
Background: There was an increase in the number of malaria cases in Cameroon in 2018 that could reflect changes in provider practice, despite effective interventions. In this study, we assessed the diagnostic performance of two malaria rapid diagnostic tests (mRDTs) for diagnostic confirmation
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Background: There was an increase in the number of malaria cases in Cameroon in 2018 that could reflect changes in provider practice, despite effective interventions. In this study, we assessed the diagnostic performance of two malaria rapid diagnostic tests (mRDTs) for diagnostic confirmation of suspected cases of malaria in public and private health facilities in two malaria transmission settings in Cameroon. Methods: We evaluated the diagnostic performance of CareStart pf and SD Bioline Pf/PAN mRDT and compared these parameters by RDT type and transmission setting. Nested PCR and blood film microscopy were used as references. The chi square test was used for independent sample comparisons, while the McNemar’s test was used to test for the dependence of categorical data in paired sample testing. A p < 0.05 was considered significant in all comparisons. The R (v.4.0.2) software was used for analyses. Results: A total of 1126 participants consented for the study in the four sites. The diagnostic accuracy of the CareStart Pf mRDT was 0.93.6% (0.911–0.961) in Yaoundé, 0.930% (0.90–0.960) in Ngounso, 0.84% (0.794–0.891) in St Vincent Catholic Hospital Dschang and 0.407 (0.345–0.468) in Dschang district hospital. For SD Bioline Pf/PAN the accuracy was 0.759 (0.738–0.846) for St Vincent Catholic Hospital Dschang and 0.426 (0.372–0.496) for the Dschang district hospital. The accuracy was slightly lower in each case but not statistically different when PCR was considered as the reference. The likelihood ratios of the positive and negative tests were high in the high transmission settings of Yaoundé (10.99 (6.24–19.35)) and Ngounso (14.40 (7.89–26.28)) compared to the low transmission settings of Dschang (0.71 (0.37–1.37)) and St Vincent Catholic hospital (7.37 (4.32−12.59)). There was a high degree of agreement between the tests in Yaoundé (Cohen’s Kappa: 0.85 ± 0.05 (0.7–0.95)) and Ngounso (Cohen’s Kappa: 0.86 ± 0.05 (0.74, 0.97)) and moderate agreement in St Vincent hospital Dschang (k: 0.58 ± 0.06 (0.44–0.71)) and poor agreement in the District Hospital Dschang (Cohen’s Kappa: −0.11 ± 0.05 (−0.21–0.01)). The diagnostic indicators of the SD Bioline Pf/PAN were slightly better than for CareStart Pf mRDT in St Vincent Catholic hospital Dschang, irrespective of the reference test. Conclusions: Publicly procured malaria rapid diagnostic tests in Cameroon have maintained high accuracy (91–94%) in the clinical diagnosis of malaria in high malaria transmission regions of Cameroon, although they failed to reach WHO standards. We observed an exception in the low transmission region of Dschang, West region, where the accuracy tended to be lower and variable between facilities located in this town. These results underscore the importance of the routine monitoring of the quality and performance of malaria RDTs in diverse settings in malaria endemic areas.
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(This article belongs to the Section Diagnostic Microbiology and Infectious Disease)
Open AccessReview
Breast Cancer Heterogeneity
Diagnostics 2021, 11(9), 1555; https://doi.org/10.3390/diagnostics11091555 - 27 Aug 2021
Abstract
Breast tumor heterogeneity is a major challenge in the clinical management of breast cancer patients. Both inter-tumor and intra-tumor heterogeneity imply that each breast cancer (BC) could have different prognosis and would benefit from specific therapy. Breast cancer is a dynamic entity, changing
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Breast tumor heterogeneity is a major challenge in the clinical management of breast cancer patients. Both inter-tumor and intra-tumor heterogeneity imply that each breast cancer (BC) could have different prognosis and would benefit from specific therapy. Breast cancer is a dynamic entity, changing during tumor progression and metastatization and this poses fundamental issues to the feasibility of a personalized medicine approach. The most effective therapeutic strategy for patients with recurrent disease should be assessed evaluating biopsies obtained from metastatic sites. Furthermore, the tumor progression and the treatment response should be strictly followed and radiogenomics and liquid biopsy might be valuable tools to assess BC heterogeneity in a non-invasive way.
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(This article belongs to the Special Issue Challenging Topics in Breast Cancer Diagnosis and Treatment)
Open AccessArticle
Classification of Cardiomyopathies from MR Cine Images Using Convolutional Neural Network with Transfer Learning
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Diagnostics 2021, 11(9), 1554; https://doi.org/10.3390/diagnostics11091554 (registering DOI) - 27 Aug 2021
Abstract
The automatic classification of various types of cardiomyopathies is desirable but has never been performed using a convolutional neural network (CNN). The purpose of this study was to evaluate currently available CNN models to classify cine magnetic resonance (cine-MR) images of cardiomyopathies. Method:
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The automatic classification of various types of cardiomyopathies is desirable but has never been performed using a convolutional neural network (CNN). The purpose of this study was to evaluate currently available CNN models to classify cine magnetic resonance (cine-MR) images of cardiomyopathies. Method: Diastolic and systolic frames of 1200 cine-MR sequences of three categories of subjects (395 normal, 411 hypertrophic cardiomyopathy, and 394 dilated cardiomyopathy) were selected, preprocessed, and labeled. Pretrained, fine-tuned deep learning models (VGG) were used for image classification (sixfold cross-validation and double split testing with hold-out data). The heat activation map algorithm (Grad-CAM) was applied to reveal salient pixel areas leading to the classification. Results: The diastolic–systolic dual-input concatenated VGG model cross-validation accuracy was 0.982 ± 0.009. Summed confusion matrices showed that, for the 1200 inputs, the VGG model led to 22 errors. The classification of a 227-input validation group, carried out by an experienced radiologist and cardiologist, led to a similar number of discrepancies. The image preparation process led to 5% accuracy improvement as compared to nonprepared images. Grad-CAM heat activation maps showed that most misclassifications occurred when extracardiac location caught the attention of the network. Conclusions: CNN networks are very well suited and are 98% accurate for the classification of cardiomyopathies, regardless of the imaging plane, when both diastolic and systolic frames are incorporated. Misclassification is in the same range as inter-observer discrepancies in experienced human readers.
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(This article belongs to the Section Machine Learning and Artificial Intelligence in Diagnostics)
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Open AccessReview
Atopic Dermatitis—Beyond the Skin
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Diagnostics 2021, 11(9), 1553; https://doi.org/10.3390/diagnostics11091553 - 27 Aug 2021
Abstract
Atopic dermatitis is a chronic inflammatory disease that can arise during the first months of life or at maturity and have a significant negative impact on the quality of life. The main pathogenic mechanism is the breakdown of cutaneous barrier integrity, which is
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Atopic dermatitis is a chronic inflammatory disease that can arise during the first months of life or at maturity and have a significant negative impact on the quality of life. The main pathogenic mechanism is the breakdown of cutaneous barrier integrity, which is associated with systemic inflammatory immunologic disorders. Atopic dermatitis involves numerous immunologic, allergic, respiratory, and ophthalmologic comorbidities that develop through similar intricate pathogenic phenomena. The atopic march represents the evolution in time of various allergic diseases, of which food allergies often cause the first manifestations of atopy, even from a very young age. Chronic inflammation translated through specific markers, next to increased immunoglobulin E (IgE) serum levels and heterogenous clinical manifestations, argue for the inclusion of atopic dermatitis in the systemic disease category.
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(This article belongs to the Section Pathology and Molecular Diagnostics)
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Open AccessArticle
Percutaneous Core Needle Biopsy Can Efficiently and Safely Diagnose Most Primary Bone Tumors
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Diagnostics 2021, 11(9), 1552; https://doi.org/10.3390/diagnostics11091552 - 27 Aug 2021
Abstract
A biopsy is a prerequisite for the diagnosis and evaluation of musculoskeletal tumors. It is considered that surgical biopsy provides a more reliable diagnosis because it can obtain more tumor material for pathological analysis. However, it is often associated with a significant complication
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A biopsy is a prerequisite for the diagnosis and evaluation of musculoskeletal tumors. It is considered that surgical biopsy provides a more reliable diagnosis because it can obtain more tumor material for pathological analysis. However, it is often associated with a significant complication rate. Imaging-guided percutaneous core needle biopsy (PCNB) is now widely used as an alternative to surgical biopsy; it appears to be minimally invasive, possibly with lower complication rates. This study evaluates the diagnostic yield of the preferred use of PCNB in a referral center, its accuracy, and its complication rate. The data relating to the biopsy and the histological analysis were extracted from the database of a bone tumor reference center where PCNB of bone tumors was discussed as a first-line option. 196 bone tumors were biopsied percutaneously between 2016 and 2020. They were located in the axial skeleton in 21.4% (42) of cases, in the lower limb in 58.7% (115), and in the upper limb in 19.9% (39) cases. We obtained a diagnosis yield of 84.7% and a diagnosis accuracy of 91.7%. The overall complication rate of the percutaneous biopsies observed was 1.0% (n = 2), consisting of two hematomas. PCNB performed in a referral center is a safe, precise procedure, with a very low complication rate, and which avoids the need for first-line open surgical biopsy. The consultation between pathologist, radiologist, and clinician in an expert reference center makes this technique an effective choice as a first-line diagnosis tool.
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(This article belongs to the Section Pathology and Molecular Diagnostics)
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MRI and Targeted Biopsy Essential Tools for an Accurate Diagnosis and Treatment Decision Making in Prostate Cancer
by
, , , and
Diagnostics 2021, 11(9), 1551; https://doi.org/10.3390/diagnostics11091551 - 27 Aug 2021
Abstract
Prostate cancer (PCa) is one of the most frequent causes of cancer death worldwide. Historically, diagnosis was based on physical examination, transrectal (TRUS) images, and TRUS biopsy resulting in overdiagnosis and overtreatment. Recently magnetic resonance imaging (MRI) has been identified as an evolving
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Prostate cancer (PCa) is one of the most frequent causes of cancer death worldwide. Historically, diagnosis was based on physical examination, transrectal (TRUS) images, and TRUS biopsy resulting in overdiagnosis and overtreatment. Recently magnetic resonance imaging (MRI) has been identified as an evolving tool in terms of diagnosis, staging, treatment decision, and follow-up. In this review we provide the key studies and concepts of MRI as a promising tool in the diagnosis and management of prostate cancer in the general population and in challenging scenarios, such as anteriorly located lesions, enlarged prostates determining extracapsular extension and seminal vesicle invasion, and prior negative biopsy and the future role of MRI in association with artificial intelligence (AI).
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(This article belongs to the Special Issue Role of Imaging and Artificial Intelligence in Prostate Cancer)
Open AccessReview
Diagnostics and Management of Male Infertility in Primary Ciliary Dyskinesia
by
and
Diagnostics 2021, 11(9), 1550; https://doi.org/10.3390/diagnostics11091550 - 26 Aug 2021
Abstract
Primary ciliary dyskinesia (PCD), a disease caused by the malfunction of motile cilia, manifests mainly with chronic recurrent respiratory infections. In men, PCD is also often associated with infertility due to immotile sperm. Since causative mutations for PCD were identified in over 50
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Primary ciliary dyskinesia (PCD), a disease caused by the malfunction of motile cilia, manifests mainly with chronic recurrent respiratory infections. In men, PCD is also often associated with infertility due to immotile sperm. Since causative mutations for PCD were identified in over 50 genes, the role of these genes in sperm development should be investigated in order to understand the effect of PCD mutations on male fertility. Previous studies showed that different dynein arm heavy chains are present in respiratory cilia and sperm flagellum, which may partially explain the variable effects of mutations on airways and fertility. Furthermore, recent studies showed that male reproductive tract motile cilia may play an important part in sperm maturation and transport. In some PCD patients, extremely low sperm counts were reported, which may be due to motile cilia dysfunction in the reproductive tract rather than problems with sperm development. However, the exact roles of PCD genes in male fertility require additional studies, as do the treatment options. In this review, we discuss the diagnostic and treatment options for men with PCD based on the current knowledge.
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(This article belongs to the Special Issue Progress in Diagnosing and Managing Primary Ciliary Dyskinesia)
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Severe Presentation of Congenital Hemolytic Anemias in the Neonatal Age: Diagnostic and Therapeutic Issues
by
, , , , , , , , , and
Diagnostics 2021, 11(9), 1549; https://doi.org/10.3390/diagnostics11091549 - 26 Aug 2021
Abstract
Congenital hemolytic anemias (CHAs) are a group of diseases characterized by premature destruction of erythrocytes as a consequence of intrinsic red blood cells abnormalities. Suggestive features of CHAs are anemia and hemolysis, with high reticulocyte count, unconjugated hyperbilirubinemia, increased lactate dehydrogenase (LDH), and
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Congenital hemolytic anemias (CHAs) are a group of diseases characterized by premature destruction of erythrocytes as a consequence of intrinsic red blood cells abnormalities. Suggestive features of CHAs are anemia and hemolysis, with high reticulocyte count, unconjugated hyperbilirubinemia, increased lactate dehydrogenase (LDH), and reduced haptoglobin. The peripheral blood smear can help the differential diagnosis. In this review, we discuss the clinical management of severe CHAs presenting early on in the neonatal period. Appropriate knowledge and a high index of suspicion are crucial for a timely differential diagnosis and management. Here, we provide an overview of the most common conditions, such as glucose-6-phosphate dehydrogenase deficiency, pyruvate kinase deficiency, and hereditary spherocytosis. Although rare, congenital dyserythropoietic anemias are included as they may be suspected in early life, while hemoglobinopathies will not be discussed, as they usually manifest at a later age, when fetal hemoglobin (HbF) is replaced by the adult form (HbA).
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(This article belongs to the Section Pathology and Molecular Diagnostics)
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