1.Predicting Hepatocellular Carcinoma Using Brightness Change Curves Derived From Contrast-enhanced Ultrasound Images
Ying-Ying CHEN ; Shang-Lin JIANG ; Liang-Hui HUANG ; Ya-Guang ZENG ; Xue-Hua WANG ; Wei ZHENG
Progress in Biochemistry and Biophysics 2025;52(8):2163-2172
ObjectivePrimary liver cancer, predominantly hepatocellular carcinoma (HCC), is a significant global health issue, ranking as the sixth most diagnosed cancer and the third leading cause of cancer-related mortality. Accurate and early diagnosis of HCC is crucial for effective treatment, as HCC and non-HCC malignancies like intrahepatic cholangiocarcinoma (ICC) exhibit different prognoses and treatment responses. Traditional diagnostic methods, including liver biopsy and contrast-enhanced ultrasound (CEUS), face limitations in applicability and objectivity. The primary objective of this study was to develop an advanced, light-weighted classification network capable of distinguishing HCC from other non-HCC malignancies by leveraging the automatic analysis of brightness changes in CEUS images. The ultimate goal was to create a user-friendly and cost-efficient computer-aided diagnostic tool that could assist radiologists in making more accurate and efficient clinical decisions. MethodsThis retrospective study encompassed a total of 161 patients, comprising 131 diagnosed with HCC and 30 with non-HCC malignancies. To achieve accurate tumor detection, the YOLOX network was employed to identify the region of interest (ROI) on both B-mode ultrasound and CEUS images. A custom-developed algorithm was then utilized to extract brightness change curves from the tumor and adjacent liver parenchyma regions within the CEUS images. These curves provided critical data for the subsequent analysis and classification process. To analyze the extracted brightness change curves and classify the malignancies, we developed and compared several models. These included one-dimensional convolutional neural networks (1D-ResNet, 1D-ConvNeXt, and 1D-CNN), as well as traditional machine-learning methods such as support vector machine (SVM), ensemble learning (EL), k-nearest neighbor (KNN), and decision tree (DT). The diagnostic performance of each method in distinguishing HCC from non-HCC malignancies was rigorously evaluated using four key metrics: area under the receiver operating characteristic (AUC), accuracy (ACC), sensitivity (SE), and specificity (SP). ResultsThe evaluation of the machine-learning methods revealed AUC values of 0.70 for SVM, 0.56 for ensemble learning, 0.63 for KNN, and 0.72 for the decision tree. These results indicated moderate to fair performance in classifying the malignancies based on the brightness change curves. In contrast, the deep learning models demonstrated significantly higher AUCs, with 1D-ResNet achieving an AUC of 0.72, 1D-ConvNeXt reaching 0.82, and 1D-CNN obtaining the highest AUC of 0.84. Moreover, under the five-fold cross-validation scheme, the 1D-CNN model outperformed other models in both accuracy and specificity. Specifically, it achieved accuracy improvements of 3.8% to 10.0% and specificity enhancements of 6.6% to 43.3% over competing approaches. The superior performance of the 1D-CNN model highlighted its potential as a powerful tool for accurate classification. ConclusionThe 1D-CNN model proved to be the most effective in differentiating HCC from non-HCC malignancies, surpassing both traditional machine-learning methods and other deep learning models. This study successfully developed a user-friendly and cost-efficient computer-aided diagnostic solution that would significantly enhances radiologists’ diagnostic capabilities. By improving the accuracy and efficiency of clinical decision-making, this tool has the potential to positively impact patient care and outcomes. Future work may focus on further refining the model and exploring its integration with multimodal ultrasound data to maximize its accuracy and applicability.
2.Disease burden of acute viral hepatitis in Guangdong Province, 1990-2019
Jiamin QIU ; Fangfang ZENG ; Chen CHENG ; Huiyan WEN ; Shiqi HUANG ; Dan LIU ; Jinlei QI ; Peng YIN ; Maigeng ZHOU ; Ying XU ; Zhiping LIU ; Qingsong MEI ; Heng XIAO ; Zheng XIANG ; Xiaofeng LIANG
Chinese Journal of Epidemiology 2024;45(3):365-372
Objective:To examine the burden and trends of acute viral hepatitis in Guangdong Province from 1990 to 2019, and provide reference evidences for hepatitis prevention and control in the province.Methods:Data on acute viral hepatitis (hepatitis A, B, C, and E) in Guangdong from 1990 to 2019 were extracted from the Global Burden of Disease Study 2019 database. The incidence, prevalence, mortality, and disability-adjusted life years (DALY) data were analyzed by age and gender, and the estimated annual percentage change (EAPC) was calculated to describe the changing trends in disease burden.Results:From 1999 to 2019, the standardized incidence, prevalence, mortality, and DALY of acute viral hepatitis in Guangdong were higher than the national averages. In 2019, 51.43% (2 245 087/4 365 221) of acute viral hepatitis cases in Guangdong Province were mainly attributed to hepatitis B, and 77.18% (106/138) of deaths were due to acute hepatitis B. In different age groups, except for acute hepatitis B, which was more common in adults, the incidence rates of other types of viral hepatitis such as hepatitis A, B, and E showed an overall decreasing trend with age. The mortality rates of different types of acute viral hepatitis, except for the <5 age group, increased with age. The overall incidence and mortality rates of acute viral hepatitis were higher in men than in women.Conclusions:The overall burden of acute viral hepatitis in Guangdong declined in 2019, but remained higher than the national level. Further efforts are needed to strengthen hepatitis prevention and screening in different population in Guangdong Province, especially in children and the elderly.
3.Prevalence and risk evaluation of cardiovascular disease in the newly diagnosed prostate cancer population in China: A nationwide, multi-center, population-based cross-sectional study
Weiyu ZHANG ; Huixin LIU ; Ming LIU ; Shi YING ; Renbin YUAN ; Hao ZENG ; Zhenting ZHANG ; Sujun HAN ; Zhannan SI ; Bin HU ; Simeng WEN ; Pengcheng XU ; Weimin YU ; Hui CHEN ; Liang WANG ; Zhitao LIN ; Tao DAI ; Yunzhi LIN ; Tao XU
Chinese Medical Journal 2024;137(11):1324-1331
Background::Cardiovascular disease (CVD) has emerged as the leading cause of death from prostate cancer (PCa) in recent decades, bringing a great disease burden worldwide. Men with preexisting CVD have an increased risk for major adverse cardiovascular events when treated with androgen deprivation therapy (ADT). The present study aimed to explore the prevalence and risk evaluation of CVD among people with newly diagnosed PCa in China.Methods::Clinical data of newly diagnosed PCa patients were retrospectively collected from 34 centers in China from 2010 to 2022 through convenience sampling. CVD was defined as myocardial infarction, arrhythmia, heart failure, stroke, ischemic heart disease, and others. CVD risk was estimated by calculating Framingham risk scores (FRS). Patients were accordingly divided into low-, medium-, and high-risk groups. χ2 or Fisher’s exact test was used for comparison of categorical variables. Results::A total of 4253 patients were enrolled in the present study. A total of 27.0% (1147/4253) of patients had comorbid PCa and CVD, and 7.2% (307/4253) had two or more CVDs. The enrolled population was distributed in six regions of China, and approximately 71.0% (3019/4253) of patients lived in urban areas. With imaging and pathological evaluation, most PCa patients were diagnosed at an advanced stage, with 20.5% (871/4253) locally progressing and 20.5% (871/4253) showing metastasis. Most of them initiated prostatectomy (46.6%, 1983/4253) or regimens involving ADT therapy (45.7%, 1944/4253) for prostate cancer. In the present PCa cohort, 43.1% (1832/4253) of patients had hypertension, and half of them had poorly controlled blood pressure. With FRS stratification, as expected, a higher risk of CVD was related to aging and metabolic disturbance. However, we also found that patients with treatment involving ADT presented an originally higher risk of CVD than those without ADT. This was in accordance with clinical practice, i.e., aged patients or patients at advanced oncological stages were inclined to accept systematic integrative therapy instead of surgery. Among patients who underwent medical castration, only 4.0% (45/1118) received gonadotropin releasing hormone antagonists, in stark contrast to the grim situation of CVD prevalence and risk.Conclusions::PCa patients in China are diagnosed at an advanced stage. A heavy CVD burden was present at the initiation of treatment. Patients who accepted ADT-related therapy showed an original higher risk of CVD, but the awareness of cardiovascular protection was far from sufficient.
4.Peripheral primitive neuroectodermal tumor arising from the seminal vesicle: a report of one case and literature review
Yishuai ZHANG ; Yanxin ZHUANG ; Ying WANG ; Hua LIANG ; Yue ZHANG ; Jin ZENG
Journal of Modern Urology 2024;29(12):1088-1091
[Objective] To explore the clinical diagnostic and therapeutic characteristics of peripheral primitive neuroectodermal tumor (PNET). [Methods] A retrospective analysis was conducted on the clinicopathological data of a patient diagnosed with seminal vesicle PNET treated in our hospital.Relevant literature was retrieved in PubMed, Web of Science, and CNKI.The clinical features, pathological results, and treatment methods were reviewed. [Results] Including this case, a total of 6 cases were collected.This case underwent a radical cystectomy with transabdominal approach, bilateral seminal vesicle resection, pelvic tumor resection, and ileal bladder surgery.Postoperative pathology confirmed PNET.During the follow-up of 32 months, no local recurrence or distant metastasis recurred. [Conclusion] Seminal vesicle PNET is a rare tumor with high malignancy, rapid progression, and poor prognosis.The current diagnosis mainly relies on pathological biopsy and immunohistochemistry.Surgery is an effective treatment method.
5.A comparative study of enzymatic digestion methods for the preparation of single-cell suspensions from the lamina propria of the mouse intestine
Qin ZENG ; Ying LIANG ; Xinhui WANG ; Lei YAN ; Xiangpeng WANG ; Jiayi YANG ; Renhuan YU
Chinese Journal of Comparative Medicine 2024;34(4):92-99
Objective To investigate the optimal digestion method for the preparation of single-cell suspensions from mouse small intestinal lamina propria.Methods Ten mouse small intestines of uniform length were collected and randomly divided into two groups.Each group was used to prepare lamina propria single-cell suspensions by enzymatic digestion with collagenase A or collagenase Ⅷ.We compared the effects of these two enzymatic digestion method on the cell yield,cell activity,and cell surface antigens of the single-cell suspensions.Single-cell suspensions prepared by the superior enzymatic digestion method were then subjected to flow cytometry assay.Results Compared to collagenase-Ⅷ-based enzymatic digestion,collagenase-A-based digestion result ed in a higher cell yield(9.48±1.10)× 109vs(4.18±1.02)×109and higher proportions of live cells(86.36±3.32)%vs(61.62±10.93)%,active CD45+cells(57.19±5.11)%vs(26.01±11.44)%,active CD3+cells(8.73±2.89)%vs(4.52±2.49)%,active CD4+cells(6.19±2.09)%vs(3.22±1.91)%,and active B220+cells(15.06±4.27)%vs(5.07±2.20)%,providing high-quality cells for subsequent flow assays.Conclusions The collagenase A-based enzymatic digestion method is more suitable for the preparation of ingle-cell suspensions from the lamina propria of ouse small intestines.
6.A cross-sectional study of simplified grade of the transcalvarial axial plane in evaluating the convexity sulci of normal fetuses
Yue QIN ; Huaxuan WEN ; Dandan LUO ; Qing ZENG ; Meiyu ZHENG ; Meiling LIANG ; Yimei LIAO ; Xin WEN ; Bocheng LIANG ; Ying YUAN ; Shengli LI
Chinese Journal of Ultrasonography 2024;33(10):884-890
Objective:To study the stability and morphological changes of the convexity sulci in normal fetuses between 20 and 32 weeks, and to explore the simplified grade for evaluating the convexity sulci development and analyzing its clinical significance.Methods:This study was a cross-sectional analysis. A total of 551 cases of normal singleton pregnancies between 20 and 32 weeks of gestation were retrospectively collected, who underwent routine ultrasound examinations at Shenzhen Maternity and Child Healthcare Hospital from September 2019 to June 2022. The display of the far-field convexity sulci on the transcalvarial axial plane was observed as 0 for not displayed and 1 for displayed.Further, based on the morphology and number of convexity sulci, they were classified into five grades: no sulcus displayed (grade 0), one sulcus (grade 1), two sulci (grade 2), three sulci (grade 3), and four or more sulci (grade 4). The gestational age at examination and pregnancy outcomes were recorded. The distribution characteristics of gestational weeks for each grade of the convexity sulci were analyzed, and the gestational week distribution of the left and right convexity sulci was compared to analyze bilateral symmetry. The Weighted Kappa coefficient was used to analyze inter-observer and intra-observer consistency, and curve regression analysis was employed to establish a model for predicting grade based on gestational weeks.Results:Before 25 weeks of gestation, the convexity of the fetal cranial vertex was completely smooth.The central sulcus consistently appeared after 26 weeks, while the superior frontal sulcus, intraparietal sulcus, postcentral sulcus, and precentral sulcus consistently appeared between 28 and 31 weeks. Among these, the superior frontal sulcus had a lower display rate before 29 weeks. By 32 weeks, all convexity sulci of the cranial vertex should be visible. Three hundred and eleven fetuses were graded for the left, and 240 fetuses were graded for the right. The developmental grade of the convexity sulci increased from Grade 0 to Grade 4 as the gestational age progressed. Grade 0 appeared between 20-26 weeks, grade 1 between 25-28 weeks, grade 2 between 26-28 weeks, grade 3 between 27-30 weeks, and grade 4 between 27-32 weeks. The distribution of grade did not differ significantly between the left and right sides of grade 0, 1, 3 and 4 (all P>0.05), while there was a significant difference in the distribution of gestational age between the convexity sulci of grade 2 ( P<0.05). The Weighted Kappa coefficients for intra-observer and inter-observer consistency were 0.94 and 0.86, respectively, indicating strong consistency. Conclusions:The simplified grade for assessing the development of convexity sulci in normal fetuses on the transcalvarial axial plane via prenatal ultrasound can provide a preliminary evaluation of the maturation of convexity sulci in fetuses between 20 and 32 weeks of gestation.
7.Analysis of risk factors of mortality in infants and toddlers with moderate to severe pediatric acute respiratory distress syndrome.
Bo Liang FANG ; Feng XU ; Guo Ping LU ; Xiao Xu REN ; Yu Cai ZHANG ; You Peng JIN ; Ying WANG ; Chun Feng LIU ; Yi Bing CHENG ; Qiao Zhi YANG ; Shu Fang XIAO ; Yi Yu YANG ; Xi Min HUO ; Zhi Xian LEI ; Hong Xing DANG ; Shuang LIU ; Zhi Yuan WU ; Ke Chun LI ; Su Yun QIAN ; Jian Sheng ZENG
Chinese Journal of Pediatrics 2023;61(3):216-221
Objective: To identify the risk factors in mortality of pediatric acute respiratory distress syndrome (PARDS) in pediatric intensive care unit (PICU). Methods: Second analysis of the data collected in the "efficacy of pulmonary surfactant (PS) in the treatment of children with moderate to severe PARDS" program. Retrospective case summary of the risk factors of mortality of children with moderate to severe PARDS who admitted in 14 participating tertiary PICU between December 2016 to December 2021. Differences in general condition, underlying diseases, oxygenation index, and mechanical ventilation were compared after the group was divided by survival at PICU discharge. When comparing between groups, the Mann-Whitney U test was used for measurement data, and the chi-square test was used for counting data. Receiver Operating Characteristic (ROC) curves were used to assess the accuracy of oxygen index (OI) in predicting mortality. Multivariate Logistic regression analysis was used to identify the risk factors for mortality. Results: Among 101 children with moderate to severe PARDS, 63 (62.4%) were males, 38 (37.6%) were females, aged (12±8) months. There were 23 cases in the non-survival group and 78 cases in the survival group. The combined rates of underlying diseases (52.2% (12/23) vs. 29.5% (23/78), χ2=4.04, P=0.045) and immune deficiency (30.4% (7/23) vs. 11.5% (9/78), χ2=4.76, P=0.029) in non-survival patients were significantly higher than those in survival patients, while the use of pulmonary surfactant (PS) was significantly lower (8.7% (2/23) vs. 41.0% (32/78), χ2=8.31, P=0.004). No significant differences existed in age, sex, pediatric critical illness score, etiology of PARDS, mechanical ventilation mode and fluid balance within 72 h (all P>0.05). OI on the first day (11.9(8.3, 17.1) vs.15.5(11.7, 23.0)), the second day (10.1(7.6, 16.6) vs.14.8(9.3, 26.2)) and the third day (9.2(6.6, 16.6) vs. 16.7(11.2, 31.4)) after PARDS identified were all higher in non-survival group compared to survival group (Z=-2.70, -2.52, -3.79 respectively, all P<0.05), and the improvement of OI in non-survival group was worse (0.03(-0.32, 0.31) vs. 0.32(-0.02, 0.56), Z=-2.49, P=0.013). ROC curve analysis showed that the OI on the thind day was more appropriate in predicting in-hospital mortality (area under the curve= 0.76, standard error 0.05,95%CI 0.65-0.87,P<0.001). When OI was set at 11.1, the sensitivity was 78.3% (95%CI 58.1%-90.3%), and the specificity was 60.3% (95%CI 49.2%-70.4%). Multivariate Logistic regression analysis showed that after adjusting for age, sex, pediatric critical illness score and fluid load within 72 h, no use of PS (OR=11.26, 95%CI 2.19-57.95, P=0.004), OI value on the third day (OR=7.93, 95%CI 1.51-41.69, P=0.014), and companied with immunodeficiency (OR=4.72, 95%CI 1.17-19.02, P=0.029) were independent risk factors for mortality in children with PARDS. Conclusions: The mortality of patients with moderate to severe PARDS is high, and immunodeficiency, no use of PS and OI on the third day after PARDS identified are the independent risk factors related to mortality. The OI on the third day after PARDS identified could be used to predict mortality.
Female
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Male
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Humans
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Child, Preschool
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Infant
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Child
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Critical Illness
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Pulmonary Surfactants/therapeutic use*
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Retrospective Studies
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Risk Factors
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Respiratory Distress Syndrome/therapy*
8.Cidan Capsule in Combination with Adjuvant Transarterial Chemoembolization Reduces Recurrence Rate after Curative Resection of Hepatocellular Carcinoma: A Multicenter, Randomized Controlled Trial.
Dong-Hai ZHENG ; Jia-Mei YANG ; Jian-Xiong WU ; Shu-Qun CHENG ; Shao-Geng ZHANG ; Dong WU ; Ai-Jun LI ; Xiao-Hui FU ; Xun LI ; Fu-Chen QI ; Wei-Hong DUAN ; Jun-Hui CHEN ; Zhi-Ying YANG ; Lu LIANG ; Jin-Xiong ZENG ; Wei-da ZHENG ; Meng-Chao WU
Chinese journal of integrative medicine 2023;29(1):3-9
OBJECTIVE:
To evaluate the efficacy and safety of Cidan Capsule combined with adjuvant transarterial chemoembolization (TACE) in patients with a high risk of early recurrence after curative resection of hepatocellular carcinoma (HCC).
METHODS:
A multicenter, randomized controlled trial was conducted in patients with high-risk recurrence factors after curative resection of HCC from 9 medical centers between July 2014 and July 2018. Totally 249 patients were randomly assigned to TACE with or without Cidan Capsule administration groups by stratified block in a 1:1 ratio. Postoperative adjuvant TACE was given 4-5 weeks after hepatic resection in both groups. Additionally, 125 patients in the TACE plus Cidan group were administrated Cidan Capsule (0.27 g/capsule, 5 capsules every time, 4 times a day) for 6 months with a 24-month follow-up. Primary endpoints included disease-free survival (DFS) and tumor recurrence rate (TRR). Secondary endpoint was overall survival (OS). Any drug-related adverse events (AEs) were observed and recorded.
RESULTS:
As the data cutoff in July 9th, 2018, the median DFS was not reached in the TACE plus Cidan group and 234.0 days in the TACE group (hazard ratio, 0.420, 95% confidence interval, 0.290-0.608; P<0.01). The 1- and 2-year TRR in the TACE plus Cidan and TACE groups were 31.5%, 37.1%, and 60.8%, 63.4%, respectively (P<0.01). Median OS was not reached in both groups. The 1- and 2-year OS rates in TACE plus Cidan and TACE groups were 98.4%, 98.4%, and 89.5%, 87.9%, respectively (P<0.05). The most common grade 3-4 AEs included fatigue, abdominal pain, lumbar pain, and nausea. One serious AE was reported in 1 patient in the TACE plus Cidan group, the death was due to retroperitoneal mass hemorrhage and hemorrhagic shock, and was not related to study drug.
CONCLUSIONS
Cidan Capsule in combination with TACE can reduce the incidence of early recurrence in HCC patients at high-risk of recurrence after radical hepatectomy and may be an appropriate option in postoperative anti-recurrence treatment. (Registration No. NCT02253511).
9.To compare the efficacy and incidence of severe hematological adverse events of flumatinib and imatinib in patients newly diagnosed with chronic phase chronic myeloid leukemia.
Xiao Shuai ZHANG ; Bing Cheng LIU ; Xin DU ; Yan Li ZHANG ; Na XU ; Xiao Li LIU ; Wei Ming LI ; Hai LIN ; Rong LIANG ; Chun Yan CHEN ; Jian HUANG ; Yun Fan YANG ; Huan Ling ZHU ; Ling PAN ; Xiao Dong WANG ; Gui Hui LI ; Zhuo Gang LIU ; Yan Qing ZHANG ; Zhen Fang LIU ; Jian Da HU ; Chun Shui LIU ; Fei LI ; Wei YANG ; Li MENG ; Yan Qiu HAN ; Li E LIN ; Zhen Yu ZHAO ; Chuan Qing TU ; Cai Feng ZHENG ; Yan Liang BAI ; Ze Ping ZHOU ; Su Ning CHEN ; Hui Ying QIU ; Li Jie YANG ; Xiu Li SUN ; Hui SUN ; Li ZHOU ; Ze Lin LIU ; Dan Yu WANG ; Jian Xin GUO ; Li Ping PANG ; Qing Shu ZENG ; Xiao Hui SUO ; Wei Hua ZHANG ; Yuan Jun ZHENG ; Qian JIANG
Chinese Journal of Hematology 2023;44(9):728-736
Objective: To analyze and compare therapy responses, outcomes, and incidence of severe hematologic adverse events of flumatinib and imatinib in patients newly diagnosed with chronic phase chronic myeloid leukemia (CML) . Methods: Data of patients with chronic phase CML diagnosed between January 2006 and November 2022 from 76 centers, aged ≥18 years, and received initial flumatinib or imatinib therapy within 6 months after diagnosis in China were retrospectively interrogated. Propensity score matching (PSM) analysis was performed to reduce the bias of the initial TKI selection, and the therapy responses and outcomes of patients receiving initial flumatinib or imatinib therapy were compared. Results: A total of 4 833 adult patients with CML receiving initial imatinib (n=4 380) or flumatinib (n=453) therapy were included in the study. In the imatinib cohort, the median follow-up time was 54 [interquartile range (IQR), 31-85] months, and the 7-year cumulative incidences of CCyR, MMR, MR(4), and MR(4.5) were 95.2%, 88.4%, 78.3%, and 63.0%, respectively. The 7-year FFS, PFS, and OS rates were 71.8%, 93.0%, and 96.9%, respectively. With the median follow-up of 18 (IQR, 13-25) months in the flumatinib cohort, the 2-year cumulative incidences of CCyR, MMR, MR(4), and MR(4.5) were 95.4%, 86.5%, 58.4%, and 46.6%, respectively. The 2-year FFS, PFS, and OS rates were 80.1%, 95.0%, and 99.5%, respectively. The PSM analysis indicated that patients receiving initial flumatinib therapy had significantly higher cumulative incidences of CCyR, MMR, MR(4), and MR(4.5) and higher probabilities of FFS than those receiving the initial imatinib therapy (all P<0.001), whereas the PFS (P=0.230) and OS (P=0.268) were comparable between the two cohorts. The incidence of severe hematologic adverse events (grade≥Ⅲ) was comparable in the two cohorts. Conclusion: Patients receiving initial flumatinib therapy had higher cumulative incidences of therapy responses and higher probability of FFS than those receiving initial imatinib therapy, whereas the incidence of severe hematologic adverse events was comparable between the two cohorts.
Adult
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Humans
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Adolescent
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Imatinib Mesylate/adverse effects*
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Incidence
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Antineoplastic Agents/adverse effects*
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Retrospective Studies
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Pyrimidines/adverse effects*
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Leukemia, Myelogenous, Chronic, BCR-ABL Positive/drug therapy*
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Treatment Outcome
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Benzamides/adverse effects*
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Leukemia, Myeloid, Chronic-Phase/drug therapy*
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Aminopyridines/therapeutic use*
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Protein Kinase Inhibitors/therapeutic use*
10.Prenatal imaging classification and potential diseases of fetal abnormal sylvian fissure
Yimei LIAO ; Bing WANG ; Huaxuan WEN ; Shuyuan OUYANG ; Dongming HAN ; Caiqun LUO ; Yang LIU ; Bingguang LIU ; Qing ZENG ; Yue QIN ; Dandan LUO ; Meiling LIANG ; Xin WEN ; Zhixuan CHEN ; Haishan XIANG ; Ying YUAN ; Guanxun CHENG ; Shengli LI
Chinese Journal of Ultrasonography 2023;32(3):211-219
Objective:To assess the ultrasonographic features and potential diseases of fetal abnormal sylvian fissure(SF), and to explore the value of whole-genome sequencing (WGS) in prenatal detection.Methods:A total of 28 fetuses with a sonographic diagnosis of abnormal SF in Shenzhen Maternal and Child Health Hospital Affiliated to Southern Medical University between October 2018 and October 2020 were prospectively included. The fetal brain was evaluated by neuroultrasound and intrauterine MRI in detail. Amniotic fluid/cord blood obtained by amniocentesis or tissue samples from umbilical cord after birth were collected for WGS. Pregnancy outcomes and postnatal MRI were recorded, and neurodevelopment of live-born infants was followed up for more than 24 months after delivery.Results:During the study period, 28 fetuses with abnormal SF were identified, with a gestational age of 21.3-30.0 (24.8±2.0) weeks. Abnormal SF presented in MCD ( n=15, 53.6%), chromosomal anomalies ( n=3, 10.7%) or single-gene genetic syndromes ( n=3, 10.7%) with the affected fetuses showing developmental delay, hydrocephalus or leukomalacia ( n=4, 14.2%), corpus callosal agenesis with large interhemispheric cysts ( n=1, 3.6%), benign subarachnoid space enlargement with arachnoid cysts ( n=1, 3.6%), and multiple malformations ( n=1, 3.6%). Among the 15 cases with MCD, the most common pathology was lissencephaly/pachygyria, followed by schizencephaly, severe microcephaly, hemimegalencephaly with paraventricular heterotopia, and polymicrogyria. Abnormal SF presented bilaterally in 23 fetuses and unilaterally in 5. All cases were categorized into six types depending on SF morphology in the transthalamic section: no plateau-like or a small insula, linear type, irregular corrugated SF, Z-shaped, and cyst occupying type. In addition to abnormal SF, associated anomalies or mild variations were identified in all fetuses. There were 17 cases underwent intrauterine MRI, and 13 cases underwent postnatal MRI examination.And 25 pregnancies were terminated; 3 were born alive, and 2 had typical syndromic changes with poor neurodevelopmental prognosis. A related pathogenic genetic variant was detected in 57.1% (16/28) fetus, and the incidence of single nucleotide variants(SNVs) was 42.9% (12/28), among which de novo SNVs accounted for 91.7% (11/12). Conclusions:Fetal abnormal SF could be classified based on the ultrasonographic features of transthalamic section. Fetal abnormal SF may indicate MCD, some chromosomal abnormalities or single-gene genetic syndromes that may lead to poor neurodevelopmental outcomes, and may be affected by extra-cortical factors. It is suggested to carry out targeted prenatal genetic diagnosis for fetuses with abnormal SF.

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