A Radiomics-Based Nomogram Using Ultrasound Carotid Plaque Evaluation For Predicting Cerebro-Cardiovascular Events In Asymptomatic Patients.

RATIONALE AND OBJECTIVES: This study aims to assess whether a radiomics-based nomogram correlates with a higher risk of future cerebro-cardiovascular events in patients with asymptomatic carotid plaques. Additionally, it investigates the nomogram's contribution to the revised Framingham Stroke Risk Profile (rFSRP) for predicting cerebro-cardiovascular risk. MATERIALS AND METHODS: Predictive models aimed at identifying an increased risk of future cerebro-cardiovascular events were developed and internally validated at one center, then externally validated at two other centers. Survival curves, constructed using the Kaplan-Meier method, were compared through the log-rank test. RESULTS: This study included a total of 2009 patients (3946 images). The final nomogram was generated using multivariate Cox regression variables, including dyslipidemia, lumen diameter, plaque echogenicity, and ultrasonography (US)-based radiomics risk. The Harrell's concordance index (C-index) for predicting events-free survival (EFS) was 0.708 in the training cohort, 0.574 in the external validation cohort 1, 0.632 in the internal validation cohort, and 0.639 in the external validation cohort 2. The final nomogram showed a significant increase in C-index compared to the clinical, conventional US, and US-based radiomics models (all P < 0.05). Furthermore, the final nomogram-assisted method significantly improved the sensitivity and accuracy of radiologists' visual qualitative score of plaque (both P < 0.001). Among 1058 patients with corresponding 1588 plaque US images classified as low-risk by the rFSRP, 75 (7.1%) patients with corresponding 93 (5.9%) carotid plaque images were appropriately reclassified to the high-risk category by the final nomogram. CONCLUSION: The radiomics-based nomogram demonstrated accurate prediction of cerebro-cardiovascular events in patients with asymptomatic carotid plaques. It also improved the sensitivity and accuracy of radiologists' visual qualitative score of carotid plaque and enhanced the risk stratification ability of rFSRP. SUMMARY: The radiomics-based nomogram allowed accurate prediction of cerebro-cardiovascular events, especially ipsilateral ischemic stroke in patients with asymptomatic carotid atherosclerotic plaques. KEY RESULTS: The radiomics-based nomogram allowed accurate prediction of cerebro-cardiovascular events, especially ipsilateral ischemic stroke in patients with asymptomatic carotid atherosclerotic plaques. The radiomics-based nomogram improved the sensitivity and accuracy of radiologists' visual qualitative score of carotid plaque. The radiomics-based nomogram improved the discrimination of high-risk populations from low-risk populations in asymptomatic patients with carotid atherosclerotic plaques and the risk stratification capability of the rFSRP.

Automatic classification of spinal osteosarcoma and giant cell tumor of bone using optimized DenseNet.

Objective: This study aims to explore an optimized deep-learning model for automatically classifying spinal osteosarcoma and giant cell tumors. In particular, it aims to provide a reliable method for distinguishing between these challenging diagnoses in medical imaging. Methods: This research employs an optimized DenseNet model with a self-attention mechanism to enhance feature extraction capabilities and reduce misclassification in differentiating spinal osteosarcoma and giant cell tumors. The model utilizes multi-scale feature map extraction for improved classification accuracy. The paper delves into the practical use of Gradient-weighted Class Activation Mapping (Grad-CAM) for enhancing medical image classification, specifically focusing on its application in diagnosing spinal osteosarcoma and giant cell tumors. The results demonstrate that the implementation of Grad-CAM visualization techniques has improved the performance of the deep learning model, resulting in an overall accuracy of 85.61%. Visualizations of images for these medical conditions using Grad-CAM, with corresponding class activation maps that indicate the tumor regions where the model focuses during predictions. Results: The model achieves an overall accuracy of 80% or higher, with sensitivity exceeding 80% and specificity surpassing 80%. The average area under the curve AUC for spinal osteosarcoma and giant cell tumors is 0.814 and 0.882, respectively. The model significantly supports orthopedics physicians in developing treatment and care plans. Conclusion: The DenseNet-based automatic classification model accurately distinguishes spinal osteosarcoma from giant cell tumors. This study contributes to medical image analysis, providing a valuable tool for clinicians in accurate diagnostic classification. Future efforts will focus on expanding the dataset and refining the algorithm to enhance the model's applicability in diverse clinical settings.

Improvements of myocardial strain and work in diabetes patients with normal ejection fraction after empagliflozin treatment.

AIMS/INTRODUCTION: To assess the effect of empagliflozin treatment on left ventricular (LV), right ventricular (RV) and left atrial (LA) functions in diabetes patients with normal ejection fraction. MATERIALS AND METHODS: The study included a total of 128 diabetes patients with multiple cardiovascular risk factors who were subjected to a 6-month follow up from the initiation of empagliflozin treatment. Before and after treatment with empagliflozin, LV, RV and LA strain, and noninvasive myocardial work parameters were evaluated by speckle tracking echocardiography. RESULTS: In 128 diabetes patients (mean age 56 ± 8 years, 85 men) with multiple cardiovascular risk factors, myocardial strain and work parameters were impaired, despite the absence of significant clinical symptoms of heart failure. After 6-month treatment with empagliflozin, the absolute value of LV strain in all directions increased, represented by LV global longitudinal strain (-18.0 ± 1.7% to -19.2 ± 1.7% [mean ± SD]). The same trend in LV global work efficiency (93 [91-94] % to 94 [93-95] % [median (IQR)]), RV free-wall longitudinal strain (-24.0 ± 2.7% to -25.0 ± 2.8%), LA reservoir (31 ± 5% to 34 ± 5%) and conduit strain (-14 ± 4% to -16 ± 4%) was also observed. LV mass index (106.9 ± 16.8-103.6 ± 16.4 g/m2) and LV global wasted work (143 [111-185] mmHg% to 108 [88-141] mmHg%) decreased after treatment (P < 0.05 for all). LV volume and LA volume index remained unchanged after treatment. In the multivariable analysis, the change in LA reservoir strain (ß = 0.050, P = 0.035) and baseline global longitudinal strain (ß = -0.488, P < 0.001) were independent predictors of improvement in LV global longitudinal strain. CONCLUSIONS: This study suggests that 6-month treatment with empagliflozin improved LV, RV and LA functions in diabetes patients with normal ejection fraction.

Intrinsic Wave Velocity Propagation: A Novel Parameter for Assessing the Effect of Anthracycline Chemotherapy Agents on Cardiac Diastolic Function in Breast Cancer Patients.

OBJECTIVE: Anthracycline chemotherapeutic agents have significant cardiotoxicity. The present study emphasized the effect of anthracycline chemotherapy drugs on left ventricular (LV) myocardial stiffness in breast cancer patients by measuring the intrinsic wave velocity propagation (IVP), and evaluating the potential clinical value of IVP in detecting early LV diastolic function impairment. METHODS: A total of 68 newly diagnosed breast cancer patients, who were treated with anthracycline-based chemotherapy, were analyzed. Transthoracic echocardiography was performed at baseline (T0), and after 1, 2, 3, 4 and 8 chemotherapeutic cycles (T1, T2, T3, T4 and T5, respectively). Then, the IVP, LV strain parameters [global longitudinal strain (GLS), longitudinal peak strain rate at systole (LSRs), longitudinal peak strain rate at early diastole (LSRe), longitudinal peak strain rate at late diastole (LSRa), and the E/LSRe ratio], and conventional echocardiographic parameters were obtained and further analyzed. A relative reduction of >15% in GLS was considered a marker of early LV subclinical dysfunction. RESULTS: Compared to the T0 stage, IVP significantly increased at the T1 stage. However, there were no significant changes in GLS, LSRs, or LSRe between the T0 and T1 stages. These parameters significantly decreased from the T2 stage. LSRa started to significantly decrease at the T5 stage, and the E/LSRe ratio started to significantly increase at the T3 stage (all P<0.05). At the T0 stage, IVP (AUC=0.752, P<0.001) had a good predictive value for LV subclinical dysfunction after chemotherapy. CONCLUSIONS: IVP is a potentially sensitive parameter for the early clinical assessment of anthracycline-related cardiac diastolic impairment.

Genetic detection of two novel LRP5 pathogenic variants in patients with familial exudative vitreoretinopathy.

BACKGROUND: Familial exudative vitreoretinopathy (FEVR) is a genetic eye disorder that leads to abnormal development of retinal blood vessels, resulting in vision impairment. This study aims to identify pathogenic variants by targeted exome sequencing in 9 independent pedigrees with FEVR and characterize the novel pathogenic variants by molecular dynamics simulation. METHODS: Clinical data were collected from 9 families with FEVR. The causative genes were screened by targeted next-generation sequencing (TGS) and verified by Sanger sequencing. In silico analyses (SIFT, Polyphen2, Revel, MutationTaster, and GERP + +) were carried out to evaluate the pathogenicity of the variants. Molecular dynamics was simulated to predict protein conformation and flexibility transformation alterations on pathogenesis. Furthermore, molecular docking techniques were employed to explore the interactions and binding properties between LRP5 and DKK1 proteins relevant to the disease. RESULTS: A 44% overall detection rate was achieved with four variants including c.4289delC: p.Pro1431Argfs*8, c.2073G > T: p.Trp691Cys, c.1801G > A: p.Gly601Arg in LRP5 and c.633 T > A: p.Tyr211* in TSPAN12 in 4 unrelated probands. Based on in silico analysis and ACMG standard, two of them, c.4289delC: p.Pro1431Argfs*8 and c.2073G > T: p.Trp691Cys of LRP5 were identified as novel pathogenic variants. Based on computational predictions using molecular dynamics simulations and molecular docking, there are indications that these two variants might lead to alterations in the secondary structure and spatial conformation of the protein, potentially impacting its rigidity and flexibility. Furthermore, these pathogenic variants are speculated to potentially influence hydrogen bonding interactions and could result in an increased binding affinity with the DKK1 protein. CONCLUSIONS: Two novel genetic variants of the LRP5 gene were identified, expanding the range of mutations associated with FEVR. Through molecular dynamics simulations and molecular docking, the potential impact of these variants on protein structure and their interactions with the DKK1 protein has been explored. These findings provide further support for the involvement of these variants in the pathogenesis of the disease.

Word self-update contrastive adversarial networks for text-to-image synthesis.

Synthesizing realistic fine-grained images from text descriptions is a significant computer vision task. Although many GANs-based methods have been proposed to solve this task, generating high-quality images consistent with text information remains a difficult problem. These existing GANs-based methods ignore important words due to the use of fixed initial word features in generator, and neglect to learn semantic consistency between images and texts for discriminators. In this article, we propose a novel attentional generation and contrastive adversarial framework for fine-grained text-to-image synthesis, termed as Word Self-Update Contrastive Adversarial Networks (WSC-GAN). Specifically, we introduce a dual attention module for modeling color details and semantic information. With a new designed word self-update module, the generator can leverage visually important words to compute attention maps in the feature synthesis module. Furthermore, we contrive multi-branch contrastive discriminators to maintain better consistency between the generated image and text description. Two novel contrastive losses are proposed for our discriminators to impose image-sentence and image-word consistency constraints. Extensive experiments on CUB and MS-COCO datasets demonstrate that our method achieves better performance compared with state-of-the-art methods.

Lightweight image de-snowing: A better trade-off between network capacity and performance.

The single image de-snowing task is an essential topic in computer vision, as images captured on snowy days degrade the performance of current vision-based intelligent systems. Existing methods build complex network structures with numerous parameters to pursue continuous performance improvement. Nonetheless, they generally ignore the negative impact of large memory consumption in real applications. This paper aims to address the above problem by making a trade-off between network capacity and performance. We propose two novel networks suitable for different application scenarios. For devices with small memory and requiring fast inference speed, we propose an extremely lightweight recursive network (XLRNet). XLRNet is constructed by a single recursive strategy and two novel lightweight modules. For devices with large memory and pursuing better de-snowing performance, we propose a coupled lightweight dual recursive network (CLDRNet). CLDRNet cascades two XLRNets by a novel dual recursive strategy and a novel dual coupled LSTM module (DC-LSTM). Extensive experiments demonstrate the effectiveness and superiority of our two models on three synthetic datasets and real-world datasets.

Exploring the prospect of intrinsic wave propagation in evaluating myocardial stiffness among patients with type 2 diabetes.

Background: Diabetes predisposes affected individuals to impaired myocardial perfusion and ischemia, leading to cardiac dysfunction. Increased myocardial stiffness is an independent and significant risk factor in diastolic dysfunction. This study sought to estimate myocardial stiffness in Type 2 diabetes (T2DM) patients using the intrinsic wave velocity propagation (IVP) along the longitudinal wall motion during late diastole and evaluate the value of IVP in assessing cardiac function and structure. Methods: 87 and 53 participants with and without T2DM (control group) were enrolled. Of the 87 T2DM patients (DM group), 43 were complicated with hypertension (DM + H group), and 44 were not (DM-H group). Ultrasound parameters were measured and analyzed, including color M-mode flow propagation velocity, global longitudinal systolic strain (GLS), and IVP. Results: IVP was higher in the DM group than in the control group (1.62 ± 0.25 m/s and 1.40 ± 0.19 m/s, P < 0.001). After stratification for hypertension, IVP in both DM + H (1.71 ± 0.25 m/s) and DM-H (1.53 ± 0.20 m/s) groups were found to be significantly higher than that in the control group (1.40 ± 0.19 m/s); also, the difference of IVP between DM + H and DM-H group reached statistical significance. Moreover, IVP was significantly correlated with flow propagation velocity during early diastole (Pve) (r = -0.580, P < 0.001), flow propagation velocity during late diastole (Pva) (r = 0.271, P < 0.001), GLS (r = 0.330, P < 0.001), interventricular septal thickness at end-diastole (IVSd) (r = 0.321, P < 0.001), blood glucose (r = 0.246, P < 0.003), systolic blood pressure (r = 0.370, P < 0.001) and diastolic blood pressure (r = 0.389, P < 0.001). Conclusions: The results indicated the application potential of IVP in assessing the early detection of cardiac function changes noninvasively and sensitively. The correlation with myocardial stiffness warrants further studies to substantiate its potential clinical utility.

Impact of anti-VEGF therapy on distinctive retina layers in patients with macular edema secondary to branch retinal vein occlusion.

BACKGROUND: To explore the impact of anti-vascular epithelial growth factor (ant-VEGF) on the thickness of each retinal layer in patients with macular edema (ME) secondary to the branch retinal vein occlusion (BRVO). METHODS: This retrospective study included patients with ME secondary to monocular BRVO who received anti-VEGF therapy in Ningxia Eye Hospital between January-December 2020. RESULTS: Forty-three patients (25 males) were included, with 31 showed > 25% reduction in central retinal thickness (CRT) after anti-VEGF therapy (response group), and the others showed a ≤25% reduction in CRT (no-response group). The response group showed significantly smaller mean changes in the ganglion cell layer (GCL) (after 2 months) and inner plexiform layer (IPL) (after 1, 2, and 3 months) and significantly greater mean changes in the inner nuclear layer (INL) (after 2 and 3 months), outer plexiform layer (OPL) (after 3 months), outer nuclear layer (ONL) (after 2 and 3 months), and CRT (after 1 and 2 months) (all P < 0.05) as compared to the no-response group. The mean change in the thickness of each retinal layer IPL (P = 0.006) between the two groups was significantly different after controlling for a time and with a significant time trend (P < 0.001). Additionally, patients in the response group were more likely to have an improvement in IPL (43.68 ± 6.01 at 1 month and 41.52 ± 5.45 at 2 months vs. 39.9 ± 6.86 at baseline) after anti-VEGF therapy, while those in no response group might show improvement in GCL (45.75 ± 8.24 at 1 month, 40.00 ± 8.92 at 2 months, and 38.83 ± 9.93 at 3 months vs. 49.67 ± 6.83 at baseline). CONCLUSIONS: Anti-VEGF therapy might help restore the retinal structure and function in patients with ME secondary to BRVO, and those who have a response after anti-VEGF therapy are more likely to improve IPL, while those having no response might show improvement in GCL.

Value of Intraplaque Neovascularization on Contrast-Enhanced Ultrasonography in Predicting Ischemic Stroke Recurrence in Patients With Carotid Atherosclerotic Plaque.

OBJECTIVE: Patients with a history of ischemic stroke are at risk for a second ischemic stroke. This study aimed to investigate the relationship between carotid plaque enhancement on perfluorobutane microbubble contrast-enhanced ultrasonography (CEUS) and future recurrent stroke, and to determine whether plaque enhancement can contribute to risk assessment for recurrent stroke compared with the Essen Stroke Risk Score (ESRS). MATERIALS AND METHODS: This prospective study screened 151 patients with recent ischemic stroke and carotid atherosclerotic plaques at our hospital between August 2020 and December 2020. A total of 149 eligible patients underwent carotid CEUS, and 130 patients who were followed up for 15-27 months or until stroke recurrence were analyzed. Plaque enhancement on CEUS was investigated as a possible risk factor for stroke recurrence and as a possible adjunct to ESRS. RESULTS: During follow-up, 25 patients (19.2%) experienced recurrent stroke. Patients with plaque enhancement on CEUS had an increased risk of stroke recurrence events (22/73, 30.1%) compared to those without plaque enhancement (3/57, 5.3%), with an adjusted hazard ratio (HR) of 38.264 (95% confidence interval [CI]:14.975-97.767; P < 0.001) according to a multivariable Cox proportional hazards model analysis, indicating that the presence of carotid plaque enhancement was a significant independent predictor of recurrent stroke. When plaque enhancement was added to the ESRS, the HR for stroke recurrence in the high-risk group compared to that in the low-risk group (2.188; 95% CI, 0.025-3.388) was greater than that of the ESRS alone (1.706; 95% CI, 0.810-9.014). A net of 32.0% of the recurrence group was reclassified upward appropriately by the addition of plaque enhancement to the ESRS. CONCLUSION: Carotid plaque enhancement was a significant and independent predictor of stroke recurrence in patients with ischemic stroke. Furthermore, the addition of plaque enhancement improved the risk stratification capability of the ESRS.

Quantitative Assessment of Right Ventricular Function in Patients With Systemic Lupus Erythematosus Using the Novel Non-invasive Pressure-Strain Loop.

OBJECTIVE: Current echocardiography evaluation of right ventricular (RV) function, which heralds the prognosis in patients with systemic lupus erythematosus (SLE), is of limited utility. The non-invasive pressure-strain loop (PSL), an emerging technique, has been found to feasible, sensitive and accurate in the diagnosis of cardiovascular diseases. The aim of this study was to quantitatively evaluate, using the non-invasive PSL, the right ventricular myocardial work (RVMW) in SLE patients. METHODS: Seventy-five SLE patients were recruited and grouped by pulmonary artery systolic pressure (PASP) into normal (group A, N = 26), mild (group B, N = 22) and moderate to severe (group C, N = 27) groups. Twenty-five healthy volunteers undergoing physical examination were recruited as the control group. Right ventricular global myocardial work index (RVGWI), global constructive work (RVGCW), global wasted work (RVGWW), global work efficiency (RVGWE), global longitudinal strain (RVGLS) and other conventional parameters were measured. DISCUSSION: There were no differences between group A and the control group with respect to RVLS, RVGLS and all RVMW parameters (all p values > 0.05). RVGWI and RVGCW significantly differed among the other groups (all p values < 0.05). RVGWE was significantly lower and RVGWW was significantly higher in group C than in the control group and groups A and B (all p values < 0.05). Compared with the control group, RVGWW was significantly increased and RVGLS was significantly decreased in group B (all p values < 0.05). All but one RVMW parameter moderately to strongly correlated with SLE disease activity index (SLEDAI) and World Health Organization Functional Class (WHO-FC). RVGWW (area under the receiver operating characteristic curve [AUC] = 0.893) and RVGWE (AUC = 0.877) were sensitive parameters in detecting earlier cardiac dysfunction in SLE patients. CONCLUSION: RVGWW and RVGWE serve as sensitive and promising parameters in the integrative analysis of early right ventricular dysfunction in SLE patients. To conclude, non-invasive PSL, the novel method, facilitates the quantitative assessment of RVMW in SLE patients.

Characterization of myocardial mechanics and its prognostic significance in patients with severe aortic stenosis undergoing aortic valve replacement.

Aims: Aortic stenosis (AS) induces characteristic changes in left ventricular (LV) mechanics that can be reversed after aortic valve replacement (AVR). We aimed to comprehensively characterize LV mechanics before and after AVR in patients with severe AS and identify predictors of short-term functional recovery and long-term survival. Methods and results: We prospectively performed comprehensive strain analysis by 2D speckle-tracking echocardiography in 88 patients with severe AS and LV ejection fraction ≥50% (mean age 71 ± 12 years, 42% female) prior to and within 7 days after AVR. Patients were followed for up to 5.2 years until death from any cause or last encounter. Within days after AVR, we observed an absolute increase in global longitudinal strain (GLS) (-16.0 ± 2.0% vs. -18.5 ± 2.1%, P<0.0001) and a decrease in apical rotation (10.5 ± 4.0° vs. 8.3 ± 2.8°, P = 0.0002) and peak systolic twist (18.2 ± 5.0° vs. 15.5 ± 3.8°, P = 0.0008). A baseline GLS is less negative than -16.2% was 90% sensitive and 67% specific in predicting a ≥ 20% relative increase in GLS. During a median follow-up of 3.8 years, a global circumferential systolic strain rate (GCSRs) less negative than -1.9% independently predicted lower survival. Conclusion: In patients with severe AS, a reversal in GLS, apical rotation, and peak systolic twist abnormalities towards normal occurs within days of AVR. Baseline GLS is the strongest predictor of GLS recovery but neither was associated with long-term survival. In contrast, abnormal baseline GCSRs are associated with worse outcomes.

A novel hybrid transformer-CNN architecture for environmental microorganism classification.

The success of vision transformers (ViTs) has given rise to their application in classification tasks of small environmental microorganism (EM) datasets. However, due to the lack of multi-scale feature maps and local feature extraction capabilities, the pure transformer architecture cannot achieve good results on small EM datasets. In this work, a novel hybrid model is proposed by combining the transformer with a convolution neural network (CNN). Compared to traditional ViTs and CNNs, the proposed model achieves state-of-the-art performance when trained on small EM datasets. This is accomplished in two ways. 1) Instead of the original fixed-size feature maps of the transformer-based designs, a hierarchical structure is adopted to obtain multi-scale feature maps. 2) Two new blocks are introduced to the transformer's two core sections, namely the convolutional parameter sharing multi-head attention block and the local feed-forward network block. The ways allow the model to extract more local features compared to traditional transformers. In particular, for classification on the sixth version of the EM dataset (EMDS-6), the proposed model outperforms the baseline Xception by 6.7 percentage points, while being 60 times smaller in parameter size. In addition, the proposed model also generalizes well on the WHOI dataset (accuracy of 99%) and constitutes a fresh approach to the use of transformers for visual classification tasks based on small EM datasets.

Evaluation of Left Ventricular Function by Three-Dimensional Speckle-Tracking Echocardiography in Patients with Chronic Kidney Failure.

OBJECTIVE: To establish a quantitative evaluation of the left ventricle's systolic function in patients with chronic kidney failure (CKF) by three-dimensional speckle-tracking echocardiography. METHODS: Two-dimensional and three-dimensional transthoracic echocardiography was performed on 30 patients with CKF. The ejection fraction, mass and global peak longitudinal strain, global circumferential strain, global area strain, and global radial strain of the left ventricle were calculated. RESULTS: The ejection fraction, mass and global peak longitudinal strain (GLS), global circumferential strain (GCS), global area strain (GAS), and global radial strain (GRS) in the CKF group were significantly lower than those in the control group. Simultaneously, the GLS, GCS, GAS and GRS were well correlated with the ejection fraction. For patients with normal ejection fraction in the CKF group, the GLS, GCS, GAS and GRS were lower than those in the control group, while the left ventricular mass was significantly higher in CKF patients than in the control group. For patients with hypertension in the CKF group, ejection fraction, GLS, GCS, GAS and GRS calculated using three-dimensional echocardiography were significantly lower than those in patients with normal blood pressure; however, the myocardial mass was higher. CONCLUSIONS: The parameters (GLS, GCS, GAS and GRS) calculated using three-dimensional speckle-tracking software were lower in the CKF group. Simultaneously, the left ventricular mass was higher in CFK patients than in the control group, thus showing that the myocardial contraction function was impaired and that myocardial remodeling had occurred.

Genomic profiling reveals non-small cell lung cancer with common mutations of EGFR exon 20 and exon 21: a case report.

Background: Epidermal growth factor receptor (EGFR) gene is one of the most common driver genes for non-small cell lung cancer (NSCLC). The PIONEER study showed that 51.4% of unselected Asian patients with advanced lung adenocarcinoma have EGFR-sensitive mutations. EGFR mutations mainly occur in the first four [18-21] exons of the intracellular tyrosine kinase (TK) region. At present, there are more than 30 types of mutations in the TK region, including exon 19 deletion mutation (19Del) and exon 21 L858R mutation (L858R) which are the most common types of sensitive mutations, accounting for more than 90% of all EGFR mutations. About 10% of NSCLC patients with EGFR mutations are rare mutation types, including exon 18 point mutation (G719X), exon 20 point mutation (S768I), exon 19 point mutation (L747S), exon 21 point mutation (L833V), etc. About 1% of NSCLC patients have primary double mutations of EGFR. Case Description: In this present study, we identified a 59-year-old female patient with no smoking history had double mutations in EGFR exon 20 R776S mutation and exon 21 L858R mutation by next-generation sequencing (NGS). Conclusions: This observation may explore a new mechanism study for EGFR-TKIs and provide a new direction for clinical treatment of NSCLC.

Persistent Endothelial Dysfunction in Coronavirus Disease-2019 Survivors Late After Recovery.

BACKGROUND: Coronavirus disease 2019 (COVID-19) can result in an endothelial dysfunction in acute phase. However, information on the late vascular consequences of COVID-19 is limited. METHODS: Brachial artery flow-mediated dilation (FMD) examination were performed, and inflammatory biomarkers were assessed in 86 survivors of COVID-19 for 327 days (IQR 318-337 days) after recovery. Comparisons were made with 28 age-matched and sex-matched healthy controls and 30 risk factor-matched patients. RESULTS: Brachial artery FMD was significantly lower in the survivors of COVID-19 than in the healthy controls and risk factor-matched controls [median (IQR) 7.7 (5.1-10.7)% for healthy controls, 6.9 (5.5-9.4)% for risk factor-matched controls, and 3.5(2.2-4.6)% for COVID-19, respectively, p < 0.001]. The FMD was lower in 25 patients with elevated tumor necrosis factor (TNF)-α [2.7(1.2-3.9)] than in 61 patients without elevated TNF-α [3.8(2.6-5.3), p = 0.012]. Furthermore, FMD was inversely correlated with serum concentration of TNF-α (r = -0.237, p = 0.007). CONCLUSION: Survivors of COVID-19 have a reduced brachial artery FMD, which is inversely correlated with increased serum concentration of TNF-α. Prospective studies on the association of endothelial dysfunction with long-term cardiovascular outcomes, especially the early onset of atherosclerosis, are warranted in survivors of COVID-19.

Multi-Task Transformer with Adaptive Cross-Entropy Loss for Multi-Dialect Speech Recognition.

At present, most multi-dialect speech recognition models are based on a hard-parameter-sharing multi-task structure, which makes it difficult to reveal how one task contributes to others. In addition, in order to balance multi-task learning, the weights of the multi-task objective function need to be manually adjusted. This makes multi-task learning very difficult and costly because it requires constantly trying various combinations of weights to determine the optimal task weights. In this paper, we propose a multi-dialect acoustic model that combines soft-parameter-sharing multi-task learning with Transformer, and introduce several auxiliary cross-attentions to enable the auxiliary task (dialect ID recognition) to provide dialect information for the multi-dialect speech recognition task. Furthermore, we use the adaptive cross-entropy loss function as the multi-task objective function, which automatically balances the learning of the multi-task model according to the loss proportion of each task during the training process. Therefore, the optimal weight combination can be found without any manual intervention. Finally, for the two tasks of multi-dialect (including low-resource dialect) speech recognition and dialect ID recognition, the experimental results show that, compared with single-dialect Transformer, single-task multi-dialect Transformer, and multi-task Transformer with hard parameter sharing, our method significantly reduces the average syllable error rate of Tibetan multi-dialect speech recognition and the character error rate of Chinese multi-dialect speech recognition.

Relation of Carotid Plaque Features Detected with Ultrasonography-Based Radiomics to Clinical Symptoms.

Carotid plaque is one of the predominant causes of stroke. We sought to build a nomogram using ultrasonography (US)-based radiomics and clinical features for identification of symptomatic carotid plaques. We prospectively enrolled 548 patients (mean age ± standard deviation, 63 ± 10 years; 373 men) were randomly divided into training and test cohorts. Clinical and conventional US features of carotid plaques were used to generate a clinical and conventional US model. US-based radiomics model was constructed by extracting radiomics features from grayscale and strain elasticity images. Multivariate logistic regression was performed using the radiomics scores together with clinical and conventional US data, and a final nomogram was subsequently developed. The performance of the final nomogram was assessed with respect to discrimination and clinical usefulness in the training of the test cohorts and contrast-enhanced US test cohort. All the radiomics scores were significantly higher in patients with symptomatic carotid plaques. The US-based radiomics model [area under the curve (AUC) = 0.930 and 0.922 for training and test cohorts, respectively] and final nomogram (AUC = 0.927 and 0.919, respectively) outperformed the clinical and conventional US model (AUC = 0.723 and 0.580, respectively). The decision curve analysis indicated that the final nomogram was clinically useful. In patients undergoing the contrast-enhanced US, the prevalence of plaque enhancement was higher in high-risk patients than in low-risk patients based on the final nomogram-score (P = 0.008). Nomogram has a high diagnostic performance for identification of symptomatic carotid plaques.

A novel stop codon mutation of TSPAN12 gene in Chinese patients with familial exudative vitreoretinopathy.

BACKGROUND: Familial exudative vitreoretinopathy (FEVR) is a group of inherited eye diseases characterized by premature arrest of retinal vessel development. The purpose of our study was to characterize the genetic causes and clinical features in eight Chinese families with FEVR using next-generation sequencing (NGS) technology. MATERIALS AND METHODS: Eight families with FEVR were included in genetic and clinical analyses. We screened the proband and the parents in eight pedigrees with FEVR using targeted NGS approach and in silico analysis to determine the causative mutation for their family's phenotype. RESULTS: Four cases (4/8, 50.0%) were confirmed to harbor mutations in known genes, including 3 novel mutations and one previously reported mutation. Among the detected mutations, TSPAN12 accounted for 75% (3/4). We identified a novel stop codon of TSPAN12, a heterozygous missense mutation NM_012338.4:c.633T>A, NP_036470.1:p.Tyr211Ter involved in highly conserved residues in the proband. Retrospective analysis of its clinical manifestation showed that the mutant carrier presented mild clinical features. CONCLUSIONS: We found the novel stop codon mutation p.Tyr211Ter in the TSPAN12, which creates a milder phenotype. Discovery of this novel mutation expands the mutation spectrum of TSPAN12, and would be valuable for future genetic disease diagnosis.

Normalized Cardiac Structure and Function in COVID-19 Survivors Late After Recovery.

Background: Coronavirus disease 2019 can result in myocardial injury in the acute phase. However, information on the late cardiac consequences of coronavirus disease 2019 (COVID-19) is limited. Methods: We conducted a prospective observational cohort study to investigate the late cardiac consequences of COVID-19. Standard echocardiography and myocardial strain assessment were performed, and cardiac blood biomarkers were tested in 86 COVID-19 survivors 327 days (IQR 318-337 days) after recovery. Comparisons were made with 28 age-matched and sex-matched healthy controls and 30 risk factor-matched patients. Results: There were no significant differences in all echocardiographic structural and functional parameters, including left ventricular (LV) global longitudinal strain, right ventricular (RV) longitudinal strain, LV end-diastolic volume, RV dimension, and the ratio of peak early velocity in mitral inflow to peak early diastolic velocity in the septal mitral annulus (E/e') among COVID-19 survivors, healthy controls and risk factor-matched controls. Even 26 patients with myocardial injury at admission did not have any echocardiographic structural and functional abnormalities. There were no significant differences among the three groups with respect to serum concentrations of N-terminal pro-B-type natriuretic peptide (NT-proBNP) and high-sensitivity cardiac troponin I (cTnI). Conclusion: This study showed that COVID-19 survivors, including those with myocardial injury at admission and those with severe and critical types of illness, do not have any echocardiographic evidence of cardiac structural and functional abnormalities 327 days after diagnosis.