Hypertrophic cardiomyopathy (HCM) is one of the most common genetic cardiovascular diseases, and it shows an autosomal dominant pattern of inheritance. HCM can be clinically silent, and sudden unexpected death due to malignant arrhythmias may be the first manifestation. Thus, the HCM diagnosis could be performed at a clinical and judicial autopsy and offer useful findings on morphological features; moreover, it could integrate the knowledge on the genetic aspect of the disease. This review aims to systematically analyze the literature on the main post-mortem investigations and the related findings of HCM to reach a well-characterized and stringent diagnosis; the review was performed using PubMed and Scopus databases. The articles on the post-mortem evaluation of HCM by gross and microscopic evaluation, imaging, and genetic test were selected; a total of 36 studies were included. HCM was described with a wide range of gross findings, and there were cases without morphological alterations. Myocyte hypertrophy, disarray, fibrosis, and small vessel disease were the main histological findings. The post-mortem genetic tests allowed the diagnosis to be reached in cases without morpho-structural abnormalities; clinical and forensic pathologists have a pivotal role in HCM diagnosis; they contribute to a better definition of the disease and also provide data on the genotype–phenotype correlation, which is useful for clinical research.

Morphological and Genetic Aspects for Post-Mortem Diagnosis of Hypertrophic Cardiomyopathy: A Systematic Review

Abstract Radiomics extracts hundreds of features from medical images to quantitively characterize a region of interest (ROI). When applying radiomics, imbalanced or small dataset issues are commonly addressed using under or over-sampling, the latter being applied directly to the extracted features. Aim of this study is to propose a novel balancing and data augmentation technique by applying perturbations (erosion, dilation, contour randomization) to the ROI in cardiac computed tomography images. From the perturbed ROIs, radiomic features are extracted, thus creating additional samples. This approach was tested addressing the clinical problem of distinguishing cardiac amyloidosis (CA) from aortic stenosis (AS) and hypertrophic cardiomyopathy (HCM). Twenty-one CA, thirty-two AS and twenty-one HCM patients were included in the study. From each original and perturbed ROI, 107 radiomic features were extracted. The CA-AS dataset was balanced using the perturbation-based method along with random over-sampling, adaptive synthetic (ADASYN) and the synthetic minority oversampling technique (SMOTE). The same methods were tested to perform data augmentation dealing with CA and HCM. Features were submitted to robustness, redundancy, and relevance analysis testing five feature selection methods ( p -value, least absolute shrinkage and selection operator (LASSO), semi-supervised LASSO, principal component analysis (PCA), semi-supervised PCA). Support vector machine performed the classification tasks, and its performance were evaluated by means of a 10-fold cross-validation. The perturbation-based approach provided the best performances in terms of f1 score and balanced accuracy in both CA-AS (f1 score: 80%, AUC: 0.91) and CA-HCM (f1 score: 86%, AUC: 0.92) classifications. These results suggest that ROI perturbations represent a powerful approach to address both data balancing and augmentation issues. 

A Novel Data Augmentation Method for Radiomics Analysis Using Image Perturbations.

Researchers have delved into noninvasive diagnostic methods of renal fibrosis (RF) in chronic kidney disease, including ultrasound (US), magnetic resonance imaging (MRI), and radiomics. However, the value of these diagnostic methods in the noninvasive diagnosis of RF remains contentious. Consequently, the present study aimed to systematically delineate the accuracy of the noninvasive diagnosis of RF. 

Noninvasive diagnosis of interstitial fibrosis in chronic kidney disease: a systematic review and meta-analysis

AIM
This study assessed the myocardial infarction (MI) using a novel fusion approach (multi-flavored or tensor-based) of multi-parametric cardiac magnetic resonance imaging (CMRI) at four sequences; T1-weighted (T1W) in the axial plane, sense-balanced turbo field echo (sBTFE) in the axial plane, late gadolinium enhancement of heart short axis (LGE-SA) in the sagittal plane, and four-chamber views of LGE (LGE-4CH) in the axial plane.


METHODS
After considering the inclusion and exclusion criteria, 115 patients (83 with MI diagnosis and 32 as healthy control patients), were included in the present study. Radiomic features were extracted from the whole left ventricular myocardium (LVM). Feature selection methods were Least Absolute Shrinkage and Selection Operator (Lasso), Minimum Redundancy Maximum Relevance (MRMR), Chi-Square (Chi2), Analysis of Variance (Anova), Recursive Feature Elimination (RFE), and SelectPersentile. The classification methods were Support Vector Machine (SVM), Logistic Regression (LR), and Random Forest (RF). Different metrics, including receiver operating characteristic curve (AUC), accuracy, F1- score, precision, sensitivity, and specificity were calculated for radiomic features extracted from CMR images using stratified five-fold cross-validation.


RESULTS
For the MI detection, Lasso (as the feature selection) and RF/LR (as the classifiers) in sBTFE sequences had the best performance (AUC: 0.97). All features and classifiers of T1 + sBTFE sequences with the weighted method (as the fused image), had a good performance (AUC: 0.97). In addition, the results of the evaluated metrics, especially mean AUC and accuracy for all models, determined that the T1 + sBTFE-weighted fused method had strong predictive performance (AUC: 0.93±0.05; accuracy: 0.93±0.04), followed by T1 + sBTFE-PCA fused method (AUC: 0.85±0.06; accuracy: 0.84±0.06).


CONCLUSION
Our selected CMRI sequences demonstrated that radiomics analysis enables to detection of MI accurately. Among the investigated sequences, the T1 + sBTFE-weighted fused method with the highest AUC and accuracy values was chosen as the best technique for MI detection.

Multi-parametric assessment of cardiac magnetic resonance images to distinguish myocardial infarctions: A tensor-based radiomics feature.

Chronic kidney disease: a chronic challenge for imaging?

Value of multiparametric magnetic resonance imaging for evaluating chronic kidney disease and renal fibrosis

A preliminary study of rapid T1mapping imaging for evaluating renal interstitial fibrosis

BACKGROUND T1 mapping can potentially quantitatively assess the intrinsic properties of tumors. B1 correction can reduce the magnetic field inhomogeneity. PURPOSE To assess the repeatability and reproducibility of B1 -corrected T1 mapping for lung cancer and the ability to identify pathological types. STUDY TYPE Prospective reproducibility study. POPULATION Sixty lung cancer patients (22 with emphysema) with a total of 60 lesions (adenocarcinoma [n = 23], squamous cell carcinoma [n = 19], and small-cell lung cancer [SCLC] [n = 18]). FIELD STRENGTH/SEQUENCE A 3 T/B1 -corrected 3D variable flip angle T1 mapping and free-breathing diffusion-weighted imaging. ASSESSMENT Intraobserver, interobserver, and test-retest reproducibility of minimum, maximum, mean, and SD of lung tumor T1 values were assessed. The correlation between mean T1 and apparent diffusion coefficient (ADC) and differences between different histological types of lung cancer were evaluated. STATISTICAL TESTS Intraclass correlation coefficients (ICCs), within-subject coefficients of variation (WCVs), Bland-Altman plots, Pearson's correlation coefficient (r), and analysis of variance (ANOVA). A P value <0.05 was considered to be statistically significant. RESULTS No significant differences were found in minimum, maximum, mean, and SD T1 values for repeated measurements (intraobserver and interobserver) and repeated examinations (P = 0.103-0.979). All parameters showed good intraobserver, interobserver and test-retest reproducibility (ICC, 0.780-0.978), except the maximum T1 value (ICC, 0.645-0.922). The mean T1 exhibited the best reproducibility and repeatability, with an average difference <6% for repeated measurements, <8% for repeated scans in lung cancer patients, and<10% for repeated scans in those with emphysema. The mean T1 correlated moderately with ADC (r = -0.580, -0.516, and -0.511 for observers A, B, and C). Both mean T1 and mean ADC were significantly different in SCLC patients compared with those in adenocarcinoma and squamous cell carcinoma patients. DATA CONCLUSION The mean T1 from B1 -corrected T1 mapping is a repeatable parameter with the potential to identify histological types of lung cancer and thus may be a promising imaging biomarker for characterizing lung cancer. EVIDENCE LEVEL 1 TECHNICAL EFFICACY: Stage 2.

B1 -Corrected T1 Mapping in Lung Cancer: Repeatability, Reproducibility, and Identification of Histological Types.

Objectives This study aimed to determine whether texture analysis (TA) and machine learning-based classifications can be applied in differential diagnosis of cardiac amyloidosis (CA) and hypertrophic cardiomyopathy (HCM) using non-contrast cine cardiac magnetic resonance (CMR) images. Methods In this institutional review board-approved study, we consecutively enrolled 167 patients with CA (n = 85), HCM (n = 82), and 84 patients with normal CMR served as controls. All cases were randomized into training [119 patients (70%)] and validation [48 patients (30%)] groups. A total of 275 texture features were extracted from cine images. Based on regression analysis with the least absolute shrinkage and selection operator (LASSO), nine machine learning models were established and their diagnostic performance determined. Results Nineteen radiomics texture features derived from cine images were used to differentiate CA and HCM. In the validation cohort, the support vector machine (SVM), which had an accuracy of 0.85, showed the best performance (MCC = 0.637). Gray level non-uniformity (GLevNonU) was the single most effective feature. The combined model of radiomics texture features and conventional MR metrics had superior discriminatory performance (AUC = 0.89) over conventional MR metrics model (AUC = 0.79). Moreover, results showed that GLevNonU levels in HCM patients were significantly higher compared with levels in CA patients and control groups (P < 0.001). A cut-off of GLevNonU ≥ 25 was shown to differentiate between CA and HCM patients, with an area under the curve (AUC) of 0.86 (CI:0.804–0.920). Multiple comparisons tests showed that GLevNonU was significantly greater in LGE+, relative to LGE-patient groups (CA+ vs. CA- and HCM+ vs. HCM-, P = 0.01, 0.001, respectively). Conclusion Machine learning-based classifiers can accurately differentiate between CA and HCM on non-contrast cine images. The radiomics-MR combined model can be used to improve the discriminatory performance. TA may be used to assess myocardial microstructure changes that occur during different stages of cardiomyopathies.

/pdf/differentiating-between-cardiac-amyloidosis-and-hypertrophic-2wr0874b.pdf

Differentiating between cardiac amyloidosis and hypertrophic cardiomyopathy on non-contrast cine-magnetic resonance images using machine learning-based radiomics

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Value of multiparametric magnetic resonance imaging for evaluating chronic kidney disease and renal fibrosis

A preliminary study of rapid T1mapping imaging for evaluating renal interstitial fibrosis

B1 -Corrected T1 Mapping in Lung Cancer: Repeatability, Reproducibility, and Identification of Histological Types.

Differentiating between cardiac amyloidosis and hypertrophic cardiomyopathy on non-contrast cine-magnetic resonance images using machine learning-based radiomics