Hypertrophy cardiomyopathy: A case of infantile-onset Pompe disease in cardiac magnetic resonance findings.

There are two clinical types of Pompe disease: infantile-onset and late-onset, while the former is much more severe. We reported a typical case of Pompe disease in a 9-month infant who presenting with repeated pneumonia, growth retardation and hypomyotonia, hepatomegaly, accompany with elevated of serum creatine kinase and liver transaminase. Cardiac magnetic resonance (CMR) showed marked hypertrophy of both ventricles including the septum, and extensive myocardial late enhancement. The gene testing result was confirmed the disease finaly. Familiarity with the imaging findings can aid in making an accurate diagnosis and determining the appropriate treatment.

Development and validation of a point-based scoring system for predicting axillary lymph node metastasis and disease outcome in breast cancer using clinicopathological and multiparametric MRI features.

BACKGROUND: Axillary lymph node (ALN) metastasis is used to select treatment strategies and define the prognosis in breast cancer (BC) patients and is typically assessed using an invasive procedure. Noninvasive, simple, and reliable tools to accurately predict ALN status are desirable. We aimed to develop and validate a point-based scoring system (PSS) for stratifying the ALN metastasis risk of BC based on clinicopathological and quantitative MRI features and to explore its prognostic significance. METHODS: A total of 219 BC patients were evaluated. The clinicopathological and quantitative MRI features of the tumors were collected. A multivariate logistic regression analysis was used to create the PSS. The performance of the models was evaluated using receiver operating characteristic curves, and the area under the curve (AUC) of the models was calculated. Kaplan-Meier curves were used to analyze the survival outcomes. RESULTS: Clinical features, including the American Joint Committee on Cancer (AJCC) stage, T stage, human epidermal growth factor receptor-2, estrogen receptor, and quantitative MRI features, including maximum tumor diameter, Kep, Ve, and TTP, were identified as risk factors for ALN metastasis and were assigned scores for the PSS. The PSS achieved an AUC of 0.799 in the primary cohort and 0.713 in the validation cohort. The recurrence-free survival (RFS) and overall survival (OS) of the high-risk (> 19.5 points) groups were significantly shorter than those of the low-risk (≤ 19.5 points) groups in the PSS. CONCLUSION: PSS could predict the ALN metastasis risk of BC. A PSS greater than 19.5 was demonstrated to be a predictor of short RFS and OS.

False-negative and false-positive outcomes of computer-aided detection on brain metastasis: Secondary analysis of a multicenter, multireader study.

BACKGROUND: Errors have seldom been evaluated in computer-aided detection on brain metastases. This study aimed to analyze false negatives (FNs) and false positives (FPs) generated by a brain metastasis detection system (BMDS) and by readers. METHODS: A deep learning-based BMDS was developed and prospectively validated in a multicenter, multireader study. Ad hoc secondary analysis was restricted to the prospective participants (148 with 1,066 brain metastases and 152 normal controls). Three trainees and 3 experienced radiologists read the MRI images without and with the BMDS. The number of FNs and FPs per patient, jackknife alternative free-response receiver operating characteristic figure of merit (FOM), and lesion features associated with FNs were analyzed for the BMDS and readers using binary logistic regression. RESULTS: The FNs, FPs, and the FOM of the stand-alone BMDS were 0.49, 0.38, and 0.97, respectively. Compared with independent reading, BMDS-assisted reading generated 79% fewer FNs (1.98 vs 0.42, P < .001); 41% more FPs (0.17 vs 0.24, P < .001) but 125% more FPs for trainees (P < .001); and higher FOM (0.87 vs 0.98, P < .001). Lesions with small size, greater number, irregular shape, lower signal intensity, and located on nonbrain surface were associated with FNs for readers. Small, irregular, and necrotic lesions were more frequently found in FNs for BMDS. The FPs mainly resulted from small blood vessels for the BMDS and the readers. CONCLUSIONS: Despite the improvement in detection performance, attention should be paid to FPs and small lesions with lower enhancement for radiologists, especially for less-experienced radiologists.

Early prediction of pathological complete response to neoadjuvant chemotherapy combining DCE-MRI and apparent diffusion coefficient values in breast Cancer.

INTRODUCTION: Improving the early prediction of neoadjuvant chemotherapy (NAC) efficacy in breast cancer can lead to an improved prediction of the final prognosis of patients, which would be useful for promoting individualized treatment. This study aimed to explore the value of the combination of dynamic contrast-enhanced (DCE)-MRI parameters and apparent diffusion coefficient (ADC) values in the early prediction of pathological complete response (pCR) to NAC for breast cancer. METHODS: A total of 119 (range, 28-69 years) patients with biopsy-proven breast cancer who received two cycles of NAC before breast surgery were retrospectively enrolled from our hospital database. Patients were divided into pCR and non pCR groups according to their pathological responses; a total of 24 patients achieved pCR, while 95 did not. The quantitative (Ktrans; Kep; Ve; IAUC) and semiquantitative parameters (W-in; W-out; TTP) of DCE-MRI that were significantly different between groups were combined with ADC values to explore their value in the early prediction of pCR to NAC for breast cancer. The independent T test was performed to compare the differences in DCE-MRI parameters and ADC values between the two groups. Receiver operating characteristic (ROC) curves were plotted, and the area under the ROC curve (AUC), sensitivity and specificity were calculated to evaluate the performance of the prediction. RESULTS: The Ktrans, Kep, IAUC, ADC, W-in and TTP values were significantly different between the pCR and non pCR groups after NAC. The AUC (0.845) and specificity (95.79%) of the combined Ktrans, Kep, IAUC and ADC values were both higher than those of the individual parameters. The combination of W-in, TTP and ADC values had the highest AUC value (0.886) in predicting pCR, with a sensitivity and specificity of 87.5% and 82.11%, respectively. CONCLUSIONS: The results suggested that the combination of ADC values and quantitative and semiquantitative DCE-MRI parameters, especially the combination of W-in, TTP, and ADC values, may improve the early prediction of pCR in breast cancer.

Readout-Segmented Echo-Planar Diffusion-Weighted MR Imaging Improves the Differentiation of Breast Cancer Receptor Statuses Compared With Conventional Diffusion-Weighted Imaging.

BACKGROUND: Readout-segmented echo-planar diffusion-weighted imaging (RS-EPI) can improve image quality and signal-to-noise ratio, the resulting apparent diffusion coefficient (ADC) value acts as a more sensitive biomarker to characterize tumors. However, data regarding the differentiation of breast cancer (BC) receptor statuses using RS-EPI are limited. PURPOSE: To determine whether RS-EPI improves the differentiation of receptor statuses compared with conventional single-shot (SS) EPI in breast MRI. STUDY TYPE: Retrospective. POPULATION: A total of 151 BC women with the mean age of 50.6 years. FIELD STRENGTH/SEQUENCE: A 3 T/ RS-EPI and SS-EPI. ASSESSMENT: The ADCs of the lesion and normal background tissue from the two sequences were collected by two radiologists with 15 years of experience working of breast MRI (M.H.Z. and X.F.C.), and a normalized ADC was calculated by dividing the mean ADC value of the lesion by the mean ADC value of the normal background tissue. STATISTICAL TESTS: Agreement between the ADC measurements from the two sequences was assessed using the Pearson correlation coefficient and Bland-Altman plots. One-way analysis of variance, Kruskal-Wallis test, and median difference were used to compare the ADC measurements for all lesions and different receptor statuses. A P value less than 0.05 indicated a significant result. RESULTS: The ADC measurements of all lesions and normal background tissues were significantly higher on RS-EPI than on SS-EPI (1.82 ± 0.33 vs. 1.55 ± 0.30 and 0.83 ± 0.11 vs. 0.79 ± 0.10). The normalized ADC was lower on RS-EPI than on SS-EPI (0.47 ± 0.11 vs. 0.53 ± 0.12, a median difference of -0.04 [95% CI: -0.256 to 0.111]). For both diffusion methods, only the ADC measurement of RS-EPI was higher for human epidermal growth factor receptor-2 (HER-2)-positive tumors than for HER-2-negative tumors (0.87 ± 0.10 vs. 0.81 ± 0.11), and this measurement was associated with HER-2 positive status (adjusted odds ratio [OR] = 654.4); however, similar results were not observed for the ADC measurement of SS-EPI (0.80 ± 0.10 vs. 0.78 ± 0.11 with P = 0.199 and adjusted OR = 0.21 with P = 0.464, respectively). DATA CONCLUSION: RS-EPI can improve the distinction between HER-2-positive and HER-2-negative breast cancer, complementing the clinical application of diffusion imaging. EVIDENCE LEVEL: 3 TECHNICAL EFFICACY: Stage 1.

Development and validation of a deep-learning model for detecting brain metastases on 3D post-contrast MRI: a multi-center multi-reader evaluation study.

BACKGROUND: Accurate detection is essential for brain metastasis (BM) management, but manual identification is laborious. This study developed, validated, and evaluated a BM detection (BMD) system. METHODS: Five hundred seventy-three consecutive patients (10 448 lesions) with newly diagnosed BMs and 377 patients without BMs were retrospectively enrolled to develop a multi-scale cascaded convolutional network using 3D-enhanced T1-weighted MR images. BMD was validated using a prospective validation set comprising an internal set (46 patients with 349 lesions; 44 patients without BMs) and three external sets (102 patients with 717 lesions; 108 patients without BMs). The lesion-based detection sensitivity and the number of false positives (FPs) per patient were analyzed. The detection sensitivity and reading time of three trainees and three experienced radiologists from three hospitals were evaluated using the validation set. RESULTS: The detection sensitivity and FPs were 95.8% and 0.39 in the test set, 96.0% and 0.27 in the internal validation set, and ranged from 88.9% to 95.5% and 0.29 to 0.66 in the external sets. The BMD system achieved higher detection sensitivity (93.2% [95% CI, 91.6-94.7%]) than all radiologists without BMD (ranging from 68.5% [95% CI, 65.7-71.3%] to 80.4% [95% CI, 78.0-82.8%], all P < .001). Radiologist detection sensitivity improved with BMD, reaching 92.7% to 95.0%. The mean reading time was reduced by 47% for trainees and 32% for experienced radiologists assisted by BMD relative to that without BMD. CONCLUSIONS: BMD enables accurate BM detection. Reading with BMD improves radiologists' detection sensitivity and reduces their reading times.

Quantitative Multiparametric MRI as an Imaging Biomarker for the Prediction of Breast Cancer Receptor Status and Molecular Subtypes.

OBJECTIVES: To assess breast cancer receptor status and molecular subtypes by using the CAIPIRINHA-Dixon-TWIST-VIBE and readout-segmented echo-planar diffusion weighted imaging techniques. METHODS: A total of 165 breast cancer patients were retrospectively recruited. Patient age, estrogen receptor, progesterone receptor, human epidermal growth factorreceptor-2 (HER-2) status, and the Ki-67 proliferation index were collected for analysis. Quantitative parameters (Ktrans, Ve, Kep), semiquantitative parameters (W-in, W-out, TTP), and apparent diffusion coefficient (ADC) values were compared in relation to breast cancer receptor status and molecular subtypes. Statistical analysis were performed to compare the parameters in the receptor status and molecular subtype groups.Multivariate analysis was performed to explore confounder-adjusted associations, and receiver operating characteristic curve analysis was used to assess the classification performance and calculate thresholds. RESULTS: Younger age (<49.5 years, odds ratio (OR) =0.95, P=0.004), lower Kep (<0.704,OR=0.14, P=0.044),and higher TTP (>0.629 min, OR=24.65, P=0.011) were independently associated with progesterone receptor positivity. A higher TTP (>0.585 min, OR=28.19, P=0.01) was independently associated with estrogen receptor positivity. Higher Kep (>0.892, OR=11.6, P=0.047), lower TTP (<0.582 min, OR<0.001, P=0.004), and lower ADC (<0.719 ×10-3 mm2/s, OR<0.001, P=0.048) had stronger independent associations with triple-negative breast cancer (TNBC) compared to luminal A, and those parameters could differentiate TNBC from luminal A with the highest AUC of 0.811. CONCLUSIONS: Kep and TTP were independently associated with hormone receptor status. In addition, the Kep, TTP, and ADC values had stronger independent associations with TNBC than with luminal A and could be used as imaging biomarkers for differentiate TNBC from Luminal A.

Primary aortic intimal sarcoma masquerading as intramural hematoma.

Primary aortic intimal sarcoma is a very rare disease and most patients present with features similar to those of atherosclerotic plaque and thrombus; however, primary aortic intimal sarcoma presents with features similar to those of intramural hematoma (IMH) on CT imaging and clinical presentation had never been previously reported. Here we report a case involving a 49-year-old woman with primary aortic intimal sarcoma masquerading as IMH on radiological images and clinical presentation. We also discuss some of the diagnostic pitfalls and hope that these diagnostic pitfalls will be very useful for clinicians.

Transcatheter closure for the treatment of pseudoventricular aneurysm after acute myocardial infarction: a case report.

Left ventricular free wall rupture (LVFWR) is a rare but lethal complication of acute myocardial infarction (AMI). Urgent surgery is essential but associated with high postoperative mortality. Even worse, LVFWR patients may experience sudden death without a chance for surgery. In this article, we report our successful transcatheter closure of a patient with the most extensive pseudoventricular aneurysm after AMI reported thus far. Cardiac magnetic resonance imaging (MRI) revealed a giant pseudoventricular aneurysm located in the inferior and lateral walls of the left ventricle; the rupture diameter was 28 mm, and the maximum tumor diameter was 90.2 mm. We used transcarotid approach (TCA) and atrial septal defect closure umbrella to complete the operation, which solved the lack of special interventional instruments to treat pseudoventricular aneurysm after AMI. In addition, we still needed to treat liver and kidney failure caused by hemolysis after operation, and undergone strict follow-up. In conclusion, transcatheter closure is practical and feasible for the treatment of pseudoventricular aneurysm after AMI, although hemolysis and decline of cardiac pumping function after the successful interventional treatment deserve special attention. Future multicenter studies are required to identify patients best suited for interventional treatment timing. And further developments in devices and delivery techniques are required in order to optimize interventional outcomes.

Radiomics analysis of contrast-enhanced CT predicts lymphovascular invasion and disease outcome in gastric cancer: a preliminary study.

BACKGROUND: To determine whether radiomics features based on contrast-enhanced CT (CECT) can preoperatively predict lymphovascular invasion (LVI) and clinical outcome in gastric cancer (GC) patients. METHODS: In total, 160 surgically resected patients were retrospectively analyzed, and seven predictive models were constructed. Three radiomics predictive models were built from radiomics features based on arterial (A), venous (V) and combination of two phase (A + V) images. Then, three Radscores (A-Radscore, V-Radscore and A + V-Radscore) were obtained. Another four predictive models were constructed by the three Radscores and clinical risk factors through multivariate logistic regression. A nomogram was developed to predict LVI by incorporating A + V-Radscore and clinical risk factors. Kaplan-Meier curve and log-rank test were utilized to analyze the outcome of LVI. RESULTS: Radiomics related to tumor size and intratumoral inhomogeneity were the top-ranked LVI predicting features. The related Radscores showed significant differences according to LVI status (P < 0.01). Univariate logistic analysis identified three clinical features (T stage, N stage and AJCC stage) and three Radscores as LVI predictive factors. The Clinical-Radscore (namely, A + V + C) model that used all these factors showed a higher performance (AUC = 0.856) than the clinical (namely, C, including T stage, N stage and AJCC stage) model (AUC = 0.810) and the A + V-Radscore model (AUC = 0.795) in the train cohort. For patients without LVI and with LVI, the median progression-free survival (PFS) was 11.5 and 8.0 months (P < 0.001),and the median OS was 20.2 and 17.0 months (P = 0.3), respectively. In the Clinical-Radscore-predicted LVI absent and LVI present groups, the median PFS was 11.0 and 8.0 months (P = 0.03), and the median OS was 20.0 and 18.0 months (P = 0.05), respectively. N stage, LVI status and Clinical-Radscore-predicted LVI status were associated with disease-specific recurrence or mortality. CONCLUSIONS: Radiomics features based on CECT may serve as potential markers to successfully predict LVI and PFS, but no evidence was found that these features were related to OS. Considering that it is a single central study, multi-center validation studies will be required in the future to verify its clinical feasibility.

Combining Dynamic Contrast-Enhanced Magnetic Resonance Imaging and Apparent Diffusion Coefficient Maps for a Radiomics Nomogram to Predict Pathological Complete Response to Neoadjuvant Chemotherapy in Breast Cancer Patients.

OBJECTIVE: The objective of this study was to develop a nomogrom for prediction of pathological complete response (PCR) to neoadjuvant chemotherapy in breast cancer patients. METHODS: Ninety-one patients were analyzed. A total of 396 radiomics features were extracted from dynamic contrast-enhanced magnetic resonance imaging (DCE-MRI) and apparent diffusion coefficient (ADC) maps. The least absolute shrinkage and selection operator was selected for data dimension reduction to build a radiomics signature. Finally, the nomogram was built to predict PCR. RESULTS: The radiomics signature of the model that combined DCE-MRI and ADC maps showed a higher performance (area under the receiver operating characteristic curve [AUC], 0.848) than the models with DCE-MRI (AUC, 0.750) or ADC maps (AUC, 0.785) alone in the training set. The proposed model, which included combined radiomics signature, estrogen receptor, and progesterone receptor, yielded a maximum AUC of 0.837 in the testing set. CONCLUSIONS: The combined radiomics features from DCE-MRI and ADC data may serve as potential predictor markers for predicting PCR. The nomogram could be used as a quantitative tool to predict PCR.

Cardiac MRI-guided interventional occlusion of ventricular septal rupture in a patient with cobalt alloy stent.

The case of a 68-year-old man with chest pain for 3 days is presented. Coronary angiography demonstrated subtotal occlusion of the mid-left anterior descending artery. A drug-eluting cobalt alloy stent was implanted after balloon dilation. On the 3rd postoperative day, echocardiography showed a ventricular septal rupture (VSR) (7 mm diameter) near the cardiac apex and ventricular aneurysm. On cardiac magnetic resonance imaging (MRI), the VSR was shown to be 11 mm in diameter. The membranous septum was 32 and 27.8 mm along the anteroposterior and superoinferior axes, respectively. The left-to-right shunt was apparent. Four weeks later, interventional therapy was performed to occlude the VSR according to the result of the MRI. The symptoms improved rapidly, and the patient was discharged. At the 4-month follow up visit, cardiac MRI revealed no shunt at the occlusion site, and the edge of the occluder was secured in the adjacent normal cardiac tissues. In conclusion, cardiac MRI could be considered for patients with a newly implanted cobalt alloy stent to provide an accurate assessment of VSR.