Corrigendum: Cardiovascular magnetic resonance findings in Danon disease: a case series of a family.

[This corrects the article DOI: 10.3389/fcvm.2023.1159576.].

Cardiovascular magnetic resonance findings in Danon disease: a case series of a family.

Background: Cardiac involvement constitutes the primary cause of mortality in patients with Danon disease (DD). This study aimed to explore the cardiac magnetic resonance (CMR) features and progressions of DD cardiomyopathies in a family with long-term follow-up. Methods: Seven patients (five females and two males), belonging to the same family and afflicted with DD, were enrolled in this study between 2017 and 2022. The cardiac structure, function, strain, tissue characteristics on CMR and their evolutions during follow-up were analyzed. Results: Three young female patients (3/7, 42.86%) exhibited normal cardiac morphology. Four patients (4/7, 57.14%) displayed left ventricle hypertrophy (LVH), and mostly with septal thickening (3/4, 75%). A single male case (1/7, 14.3%) showed decreased LV ejection fraction (LVEF). Nonetheless, the global LV strain of the four adult patients decreased in different degree. The global strain of adolescent male patients was decreased compared to the age-appropriate female patients. Five patients (5/7, 71.43%) exhibited late gadolinium enhancement (LGE), with proportion ranging from 31.6% to 59.7% (median value 42.7%). The most common LGE location was the LV free wall (5/5, 100%), followed by right ventricle insertion points (4/5, 80%) and intraventricular septum (2/5, 40%). Segmental radial strain (rs = -0.586), circumferential strain (r = 0.589), and longitudinal strain (r = 0.514) were all moderately correlated with the LGE proportions of corresponding segments (P < 0.001). T2 hyperintense and perfusion defect foci were identified, overlapping with the LGE areas. During follow-up, both the young male patients exhibited notable deterioration of their cardiac symptoms and CMR. The LVEF and strain decreased, and the extent of LGE increased year by year. One patient underwent T1 mapping examination. The native T1 value was sensitively elevated even in regions without LGE. Conclusions: Left ventricular hypertrophy, LGE with sparing or relatively less involved IVS, and LV dysfunction are prominent CMR features of Danon cardiomyopathy. Strain and T1 mapping may have advantages in detecting early-stage dysfunction and myocardial abnormalities in DD patients, respectively. Multi-parametric CMR can serve as an optimal instrument for detecting DD cardiomyopathies.

Comparison of diffusion kurtosis imaging and dynamic contrast enhanced MRI in prediction of prognostic factors and molecular subtypes in patients with breast cancer.

PURPOSE: To explore the clinical value of diffusional kurtosis imaging (DKI) and dynamic contrast enhanced magnetic resonance imaging (DCE-MRI) for predicting genotypes and prognostic factors of breast cancer. MATERIALS AND METHODS: A total of 130 female patients with pathologically-confirmed breast cancer and DKI and DCE-MRI data were reviewed retrospectively. Two radiologists independently evaluated mean diffusivity (MD) and mean kurtosis (MK) for the DKI model and volume transfer constant (Ktrans), reverse rate constant (Kep), and extracellular extravascular volume ratio (Ve) for the DCE-MRI model for post-processing analyses. Receiver operating characteristic (ROC) curves were used to analyse the diagnostic efficacies. RESULTS: MK, Ktrans, and Kep values were significantly higher in the high-grade Nottingham prognostic index (NPI) group (NPI ≥ 3.4) than in the low-grade NPI group (NPI < 3.4) (p < 0.01). The Ktrans had significantly greater area under ROC curve (AUC) than Kep and MK in predicting the NPI (p = 0.038 and 0.0217, respectively). Higher Ktrans, Kep, and MK values were observed in the high Ki-67 expression (≥14%) group than in the low Ki-67 expression (<14%) group (p < 0.05). Moreover, the MK value had better diagnostic performance than the Ktrans and Kep values in identifying Ki-67 expression status (p = 0.0097 and 0.0008, respectively). The combined model (MD + MK + Ktrans + Ve) had a significantly higher AUC than the single parameters for differentiating between luminal A/B and non-luminal subtypes (p = 0.003, < 0.001, 0.001, and < 0.001, respectively). The Human epidermal growth factor receptor 2-positive group had higher MD and Ve values than the other subtype groups (p < 0.05), and the Ve had a sensitivity of 100%. Moreover, the Ve AUC was significantly higher than that for MD in the identification of the triple-negative subtype (p = 0.048). CONCLUSION: Ktrans of DCE-MRI and MK of DKI demonstrated good diagnostic performance in predicting the prognostic factors of breast cancer. Additionally, the combination of the DCE-MRI and DKI models can improve the efficiency of predicting breast cancer genotypes.

Diagnosing autism spectrum disorder in children using conventional MRI and apparent diffusion coefficient based deep learning algorithms.

OBJECTIVE: To develop and validate deep learning (DL) methods for diagnosing autism spectrum disorder (ASD) based on conventional MRI (cMRI) and apparent diffusion coefficient (ADC) images. METHODS: A total of 151 ASD children and 151 age-matched typically developing (TD) controls were included in this study. The data from these subjects were assigned to training and validation datasets. An additional 20 ASD children and 25 TD controls were acquired, whose data were utilized in an independent test set. All subjects underwent cMRI and diffusion-weighted imaging examination of the brain. We developed a series of DL models to separate ASD from TD based on the cMRI and ADC data. The seven models used include five single-sequence models (SSMs), one dominant-sequence model (DSM), and one all-sequence model (ASM). To enhance the feature detection of the models, we embed an attention mechanism module. RESULTS: The highest AUC (0.824 ~ 0.850) was achieved when applying the SSM based on either FLAIR or ADC to the validation and independent test sets. A DSM using the combination of FLAIR and ADC showed an improved AUC in the validation (0.873) and independent test sets (0.876). The ASM also showed better diagnostic value in the validation (AUC = 0.838) and independent test sets (AUC = 0.836) compared to the SSMs. Among the models with attention mechanism, the DSM achieved the highest diagnostic performance with an AUC, accuracy, sensitivity, and specificity of 0.898, 84.4%, 85.0%, and 84.0% respectively. CONCLUSIONS: This study established the potential of DL models to distinguish ASD cases from TD controls based on cMRI and ADC images. KEY POINTS: • Deep learning models based on conventional MRI and ADC can be used to diagnose ASD. • The model (DSM) based on the FLAIR and ADC sequence achieved the best diagnostic performance with an AUC of 0.836 in the independent test sets. • The attention mechanism further improved the diagnostic performance of the models.

Computed Tomography Evaluation of Airway Changes in Adult Patients with COVID-19 Pneumonia.

OBJECTIVE: To investigate airway abnormalities on chest CT in adult patients with COVID-19 pneumonia. STUDY DESIGN: Observational study. PLACE AND DURATION OF STUDY: Department of Radiology, Affiliated Hospital of Jining Medical University, Jining, Shandong, China, from January to April, 2020. METHODOLOGY: CT scan images were analysed retrospectively. The main CT findings, including pulmonary opacities, airway wall visibility, wall thickening, luminal changes, and the formation of mucus plugs were evaluated. Airway segments were classified into three types based on the spatial relationship between conducting airways and pulmonary opacities. RESULTS: A total of 275 lesions were detected in 52 patients. Of these, 170 (61.82%) lesions were associated with 243 airway segments, including segments enclosed within lesions (type I, 152, 62.55%), crossing the lesions (type II, 51, 20.99%), and abutting the lesions (type III, 40, 16.46%). The bronchial walls of 154 (63.37%) segments were ill-defined; whereas, the walls of 89 (36.63%) segments were well-defined; in the latter group, 62 (69.66%) showed mild thickening. The bronchial lumen of 183 (75.31%) segments presented mild bronchiectasis and 60 (24.69%) segments appeared normal. Mucus plug was detected in one segment (0.41%). There were no cases of bronchial stenosis, and all bronchial segments located in normal lung regions appeared normal. The appearance of 196 (80.66%) affected bronchi was completely restored before hospital discharge. CONCLUSION: Typical airway changes in adult COVID-19 pneumonia include bronchial wall thickening without significant stenosis of the airway lumen and the absence of bronchial mucus plugs. Moreover, bronchi located in unaffected lung regions have a normal appearance. These characteristics have potential value in differential diagnosis. Key Words: Coronavirus disease, Airway, Computed tomography, Chest.

Application of CT perfusion to assess hemodynamics in symptomatic Moyamoya syndrome: focus on affected side and parameter characteristic.

OBJECTIVE: Vascular and hemodynamic changes were not consistent in symptomatic and non-symptomatic cerebral hemisphere in patients with symptomatic moyamoya syndrome (MMS). Thus, the purpose of this study is to evaluate the hemodynamic difference between symptomatic and non-symptomatic cerebral hemisphere in patients with symptomatic MMS. METHODS: Patients who were diagnosed with symptomatic MMS were retrospectively collected. All cases underwent CTP examination. Regions of interest (ROIs) were chosen in the mirroring bilateral frontal lobes, temporal lobes, the basal ganglia, and the brainstem as control region. The relative perfusion parameter values of symptomatic side were compared with non-symptomatic side. RESULTS: Of the 40 patients, 33 patients were taken into assessment. In all cases (n = 33), rCBF, rMTT, and rTTP in all regions of interest (ROIs) of the symptomatic side were significantly different from those of contralateral side. In unilateral MMS patients (n = 7), rCBF values were not significantly different between two sides in the temporal lobe and basal ganglia area; rTTP values were significantly higher in the symptomatic side. rMTT values were significantly higher only in the temporal lobe of symptomatic side. In bilateral MMS patients (n = 26), rCBF and rMTT in all ROIs of the symptomatic side were significantly different from those of contralateral side. However, there were no significant differences between two sides in all ROIs on rTTP values. CONCLUSIONS: This study demonstrates that rCBF and rMTT were more sensitive than rTTP for evaluating hemodynamic changes in patients with symptomatic bilateral MMS. Furthermore, patients with unilateral MMS may have a preserved rCBF compared to those with bilateral disease.

CT perfusion assessment of Moyamoya syndrome before and after direct revascularization (superficial temporal artery to middle cerebral artery bypass).

PURPOSE: To evaluate the utility of CT perfusion (CTP) for the assessment of superficial temporal artery-middle cerebral artery (STA-MCA) anastomosis in patients with Moyamoya syndrome (MMS). SUBJECTS AND METHODS: Twenty-four consecutive MMS patients, who underwent unilateral STA-MCA bypass surgery, received CTP before and after surgery. The relative perfusion parameter values of surgical hemispheres before treatment were compared with post-treatment values. All patients underwent CT angiography (CTA) before and after surgery in order to confirm the patency of bypass. RESULTS: The follow-up CTA after surgery clearly demonstrated 20 (20/24, 83.3 %) bypass arteries, whereas four (16.7 %) bypass arteries were occluded or very small. Postoperative rMTT and rTTP values (P < 0.05) of the surgical side were significantly lower than pre-operation. In patients (n = 20) with bypass patency, postoperative rCBF, rMTT and rTTP values (P < 0.05) of the surgical side were significantly improved. However, the differences of all parameters were not significant (P > 0.05) in the patients (n = 4) without bypass patency after revascularization. CONCLUSION: This study demonstrates that CTP can provide a crucial quantitative assessment of cerebral haemodynamic changes in MMS before and after STA-MCA anastomosis. KEY POINTS: Twenty-four MMS patients undergoing STA-MCA bypass received CTP pre- and post-surgery. Cerebral haemodynamics improved on the surgical side post-surgery on CTP maps. rCBF might have a better correlation with patency of the bypass artery. CTP can evaluate cerebral perfusion changes in MMS patients after cerebral revascularization.

Sensitivity and Specificity of Diffusion-Weighted Magnetic Resonance Imaging in Diagnosis of Bladder Cancers.

PURPOSE: Our study is designed to examine the diagnostic performance of diffusion-weighted magnetic resonance imaging (DW-MRI) for bladder cancers (BC), and to determine whether DW-MRI can differentiate muscle invasive bladder cancer (MIBC) from non-MIBC (NMIBC). METHODS: A meta-analysis was performed of published studies that investigated the performance of DW-MRI for BC. These studies were retrieved from scientific literature databases using sensitive electronic search strategies. The STATA 12.0 and Meta-disc software were employed for statistical analyses of data extracted from selected studies. RESULTS: Our search initially returned 230 articles, of which 11 met the inclusion criteria and were enrolled into the final meta-analysis. Five of the included studies reported the diagnostic performance of DW-MRI for BC with a cumulative total of 243 BC patients and 82 healthy subjects. Eight studies investigated the diagnostic performance of DW-MRI for differentiating MIBC from NMIBC, involving 259 MIBC lesions and 515 NMIBC lesions. Meta-analysis results were as follows: the diagnostic performance of DW-MRI for BC (sensitivity: 0.95 [0.75-0.99]; specificity: 0.85 [0.74-0.92]; positive likelihood ratio: 6.45 [3.64-11.42]; negative likelihood ratio: 0.055 [0.009-0.333]; diagnostic odds ratio: 117.11 [19.37-708.05]; area under the curve (AUC): 0.91); the diagnostic performance of DW-MRI to differentiate MIBC from NMIBC (sensitivity: 0.85 [0.76 - 0.91]; specificity: 0.90 [0.87 - 0.93]; positive likelihood ratio:8.81[6.43 - 12.07]; negative likelihood ratio: 0.16 [0.10 - 0.28]; diagnostic odds ratio: 53.95 [25.68 - 113.33]; AUC: 0.92). CONCLUSION: DW-MRI has an outstanding diagnostic performance, with advanced sensitivity and specificity, for imaging of bladder cancers and for differentiating MIBC from NMIBC.

MiR-30a regulates the atrial fibrillation-induced myocardial fibrosis by targeting snail 1.

OBJECTIVE: Our study aims at assessing the association between miR-30a along with its target gene snail 1 and atrial fibrillation (AF)-induced myocardial fibrosis. METHODS: Ang II was used to up-regulate cardiac fibroblasts fibrosis in vitro, and then the cardiac fibroblasts were divided into the mimics group (mimics miR-30a), inhibitors group (inhibitors miR-30a), NC group (transfected miR-30a, negative control) and blank control group (non-transfected cells). Two-group (sham operated group and rapid pacing group) AF rabbit models were constructed according to whether rapid pacing was presented in the subject. Then the establishment of rabbit models was examined using histopathology after Masson staining. The mRNA and protein expression levels of snail 1 and periostin in cardiac fibroblasts and myocardial tissues were detected using the method of RT-PCR and Western blot, respectively. RESULTS: In vitro, our experiment showed that overexpression of miR-30a in cardiac fibroblasts contribute to a significant decrease in the average expression level of snail 1 and periostin (P < 0.05) whereas inhibition of miR-30a significantly increased the average expression level of snail 1 and periostin (P < 0.05). In vivo, the average expression level of miR-30a significantly decreased in myocardial tissues with an increased degree of myocardial fibrosis, while the snail 1 and periostin expression level significantly increased during a certain period of time (P < 0.05). CONCLUSION: Our results suggest that miR-30a target snail 1 protein may be related to AF-induced myocardial fibrosis. The average expression levels of snail 1 increased significantly in both myocardial cells and tissues, while miR-30a could inhibit the expression of snail 1. Thus, we speculate that miR-30a and snail 1 may be potential therapeutic targets for curing AF-induced myocardial fibrosis.

[CT and MRI diagnosis of congenital stenosis of the internal auditory canal].

OBJECTIVE: To investigate multiple slice computed tomography (MSCT) and magnetic resonance imaging (MRI) features of congenital stenosis of the internal auditory canal (CSIAC) and improve the ability for diagnosis. METHOD: Thirteen cases with fifteen ears were studied. In all cases a MSCT and MRI was performed. RESULTS: Eleven cases were unilateral, and 2 cases were bilateral. MSCT could show the narrowness of IAC. Three cases were isolated, but the others were combined with inner ear malformations. One ear had inner, middle and outer ear malformations. One ear had inner, middle, and outer ear malformations with a frontal bone malformation. MRI demonstrated that all of the vestibulocochlear nerves were hypoplastic. The cochlear nerve in seven ears was not present, in seven ears the nerve was thinner, and in the last case it was poorly visualized. The facial nerve in two ears was hypoplastic. Volume rendering (VR) could present the degree of the narrowed internal auditory canals, combined with other inner ear anomalies. CONCLUSION: MSCT will show the degree of the narrow internal auditory canals and combined anomalies, while the MRI can further demonstrate the nerves' development.