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      2. west china medical publishers
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        find Author "秦娜" 3 results
        • 基于美國醫學遺傳學和基因組學會指南的基因檢測報告解讀

          隨著精準醫學的進一步開展,基因檢測如雨后春筍般涌現,但檢測報告質量卻良莠不齊,亟待標準來規范。2015年,美國醫學遺傳學和基因組學會(American College of Medical Genetics and Genomics,ACMG)發布了關于測序技術在臨床上應用的專業標準和指南,希望能為變異數據評級提供一個相對科學的標準。但2016年,Amendola等對比了美國9個中心實驗室的測序解讀結果,發現ACMG指南在具體實施過程中仍存在許多問題。所有實驗室均通過該指南進行變異結果的判斷,但其評級的相符率僅有34%。而對于ACMG指南的理解不同,是導致變異等級判斷結論不一致的主要原因。作為臨床醫生,基因檢測報告的解讀是不可或缺的基本功,不僅要向實驗室提供準確和完整的臨床信息,也需要了解及掌握該指南,知道如何準確使用基因檢測提供的證據來進行后續的診斷和治療決策。現將基于ACMG指南,對3例癲癇患者基因檢測報告進行解讀,期望能更加形象具體地闡釋該指南,使更多的臨床醫生更好的理解及運用指南。

          Release date:2017-09-26 05:09 Export PDF Favorites Scan
        • Value of long term videoelectroencephalography to instruct discontinuation of anti-epileptic drugs in patients with epilepsy

          ObjectiveTo explore the prognostic value of normal 24 hour video electroencephalography (VEEG) with different frequency on antiepileptic drugs (AEDs) withdrawal in cryptogenic epilepsy patients with three years seizure-free. MethodsA retrospective study was conducted in the Neurology outpatient and the Epilepsy Center of Xi Jing Hospital. The subject who had been seizure free more than 3 years were divided into continual normal twice group and once group according to the nomal frequence of 24 hour VEEG before discontinuation from January 2013 to December 2014, and then followed up to replase or to December 2015. The recurrence and cumulative recurrence rate of the two group after withdrawal AEDs were compared with chi-square or Fisher's exact test and Kaplan-Meier survival curve. A Cox proportional hazard model was used for multivariate analysis to identify the risk factors for seizure recurrence after univariate analysis. P value < 0.05 was considered significant, and all P values were two-tailed. Results95 epilepsy patients with cause unknown between 9 to 45 years old were recruited (63 in normal twice group and 32 in normal once group). The cumulated recurrence rates in continual two normal VEEG group vs one normal VEEG group were 4.8% vs 21.9% (P=0.028), 4.8% vs 25% (P=0.006) and 7.9% vs 25%(P=0.03) at 18 months, 24 months and endpoint following AEDs withdrawal and there was statistically difference between the two groups. Factors associated with increased risk were adolescent onset epilepsy (HR=2.404), history of withdrawal recurrence (HR=7.186) and abnormal VEEG (epileptic-form discharge) (HR=8.222) during or after withdrawal AEDs. The recurrence rate of each group in which abnormal VEEG vs unchanged VEEG during or after withdrawal AEDs was respectively 100% vs 4.92% (P=0.005), 80% vs 19.23%(P=0.009). ConclusionsContinual normal 24h VEEG twice before withdrawal AEDs had higher predicting value of seizure recurrence and it could guide physicians to make the withdrawal decision. Epileptic patients with adolescent onset epilepsy, history of seizure recurrence and abnormal VEEG (epileptic-form discharge) during or after withdrawal AEDs had high risk of replase, especially patients with the presence of VEEG abnormalities is associated with a high probability of seizures occurring. Discontinuate AEDs should be cautious.

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        • Interpretable machine learning model based on MRI radiomics for predicting sentinel lymph node metastasis after neoadjuvant therapy in breast cancer

          ObjectiveTo investigate the value of a predictive model for sentinel lymph node (SLN) metastasis after neoadjuvant therapy (NAT) based on the radiomic features from multi-modality magnetic resonance imaging (MRI) in combination with clinicopathologic data. MethodsThe clinical data and MRI images of breast cancer patients (initially diagnosed with cN0, all underwent NAT and surgical treatment) from two hospitals (Affiliated Hospital of Southwest Medical University and Suining Central Hospital) from January 2018 to September 2024, were retrospectively collected. The radiomic features from the multi-modality images, including T2-weighted short tau inversion recovery (T2STIR), diffusion-weighted imaging (DWI), dynamic contrast-enhanced (DCE), were extracted and selected. The predictive models for SLN metastasis after NAT were constructed using four algorithms: LightGBM, XGBoost, support vector machine (SVM), and logistic regression (LR), in combination with clinicopathologic data. The models were evaluated for performance and interpretability using receiver operating characteristic (ROC) curves, calibration curves, decision curve analysis, and Shapley additive explanation (SHAP) analysis. ResultsA total of 236 breast cancer patients were enrolled in this study. Among them, 216 patients from the Southwest Medical University were subdivided in an 8∶2 ratio into a training set (n=173) and internal validation set (n=43), while 20 patients from the Suining Central Hospital served as the external validation set. The multivariate logistic regression analysis showed that the lymphovascular invasion [OR (95%CI)=21.215 (4.404, 102.202), P <0.001] and perineural invasion [OR (95%CI)=25.867 (1.870, 357.790), P=0.002] were the risk factors, while high Ki-67 expression [OR (95%CI)=0.119 (0.035, 0.404), P<0.001] was the protective factor of SLN metastasis after NAT. The predictive models utilizing multi-modality MRI and clinicopathologic data yielded area under the ROC curve values of the internal and external validation sets of 0.750 [95%CI=(0.395, 1.000)] / 0.625 [95%CI=(0.321, 0.926)] for LightGBM, 0.878 [95%CI=(0.707, 1.000)] / 0.778 [95%CI=(0.525, 0.986)] for XGBoost, 0.641 [95%CI=(0.488, 0.795)] / 0.681 [95%CI=(0.345, 1.000)] for SVM, and 0.667 [95%CI=(0.357, 0.945)] / 0.583 [95%CI=(0.196, 0.969)] for LR. The XGBoost demonstrated the best predictive performance. Further SHAP analysis revealed that the lymphovascular invasion, T2STAR-MRI_FIRSTORDER_Minimum, and platelet were the key features influencing the predictions of the models. ConclusionThe findings of this study suggest that XGBoost prediction model based on radiomic features derived from multi-modality MRI (T2STIR, DWI, and DCE) in combination with clinicopathologic data is able to predict SLN metastasis after NAT in patients with breast cancer.

          Release date:2025-07-17 01:33 Export PDF Favorites Scan
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          2. 射丝袜