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Clinical and molecular characterization of 10 Chinese children with congenital adrenal hyperplasia due to 11beta‑hydroxylase deficiency

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World Journal of Pediatrics 2024年第4期20卷 422-433页

作者： Wen‑Li Lu Xiao‑Yu Ma Jiao Zhang Jun‑Qi Wang Ting‑Ting Zhang Lei Ye Yuan Xiao Zhi‑Ya Dong Wei Wang Shou‑yue Sun Chuan‑Yin Li rong‑Gui Hu Guang Ning Li‑Dan Zhang Department of Pediatrics Ruijin HospitalShanghai Jiao Tong University School of MedicineNo.197Ruijin 2nd RdHuangpu DistrictShanghai 200025China Department of Pediatric Genetic and Metabolic Endocrinology West China Second University HospitalSichuan UniversityNo.20Section 3Renmin South RoadSichuan 610041China Department of Endocrine and Metabolic Diseases Shanghai Clinical Center for Endocrine and Metabolic DiseasesRuijin HospitalShanghai Jiao Tong University School of MedicineShanghai 200025China Cancer Center School of MedicineShanghai Tenth People’s HospitalTongji UniversityYanchang Zhong Lu 301St RdJing’an DistrictShanghai 200031China

Background The clinical manifestations of nonclassical 11beta-hydroxylase deficiency are very similar to those of nonclassical 21-hydroxylase *** this study,we investigated the relationship between the clinical and molecular features of congenital adrenal hyperplasia caused by 11beta-hydroxylase deficiency and reviewed the related literature,which are expected to provide assistance for the clinical diagnosis and analysis of congenital adrenal *** Clinical data for 10 Chinese patients diagnosed with congenital adrenal hyperplasia in our hospital from 2018 to 2022 were retrospectively *** examined the effects of gene mutations on protease activity and constructed threedimensional structure prediction models of *** We describe 10 patients with 11beta-hydroxylase gene mutations(n=5,46,XY;n=5,46,XX),with 10 novel mutations were *** patients received treatment at an early stage,with an average age of 2.08±1.66 years,whereas male patients received treatment significantly later,at an average age of 9.77±3.62 *** most common CYP11B1 pathogenic variant in the Chinese population was found to be c.1360C>*** mutations lead to spatial conformational changes that affect protein *** Our study found that there was no significant correlation between each specific mutation and the severity of clinical *** patients with the same gene pathogenic variant may have mild or severe clinical *** correlation between genotype and phenotype needs further ***-dimensional protein simulations may provide additional support for the physiopathological mechanism of genetic mutations.

关键词： 11β-hydroxylase deficiency CYP11B1 Enzymatic activity Phenotype-genotype correlation Threedimensional protein simulations

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Research p rogress on Chinese herbal drugs in the TGF- β signaling pathway involved in epithelial-mesenchymal transition

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Cancer Advances 2024年第17期7卷 1-12页

作者： Hui-Juan Cao Chen-Xi Wu Xiao-Le xian Yong-Sen Jia yue-yue Yu Shu Zhao Ting-Ting Fu Traditional Chinese Medicine College North China University of Science and TechnologyTangshan 063210China.

Epithelial-mesenchymal transition is a well-defined,reversible process in which epithelial cells lose their epithelial phenotype and acquire mesenchymal-like ***-mesenchymal transition contributes significantly to the metastasis,invasion,and development of treatment resistance in cancer *** have been many studies on suppression of tumor epithelial-mesenchymal transition by Chinese medicine in recent years,mainly based on Chinese herbal drug monomers and *** this review,we aim to describe the research progress on Chinese medicine in the t ransforming growth factor beta(T GF-β)sig naling pathway,we hope these will provide some guidance for further research on Chinese medicine targeting epithelial-mesenchymal transition.

关键词： epithelial-mesenchymal transition cancer Chinese medicine invasion metastasis

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Primary large cell neuroendocrine carcinoma of the bladder:A case report

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World Journal of Clinical Cases 2024年第21期12卷 4783-4788页

作者： Liang-Liang Bai yue-xian Guo Shi-Yu Song Ran Li Yu-Qing Jiang Department of Urology Hebei Medical University Third HospitalShijiazhuang 050051Hebei ProvinceChina

BACKGROUND Large cell neuroendocrine carcinoma(LCNEC)of the bladder is a rare nonurothelial tumor of the *** treatment of LCNEC of the bladder is different from that of urothelial carcinoma(UC);therefore,early and accurate diagnosis is particularly *** LCNEC of the bladder is rare and its clinical symptoms and radiographic features are similar to those of urothelial tumors,the clinical diagnosis of the disease remains *** SUMMARY We report a 72-year-old female patient who presented with gross hematuria for 3 mo.A solitary tumor located in the anterior wall of the bladder was found by *** examination after biopsy suggested UC of the bladder in the absence of immunohistochemical *** patient underwent partial cystectomy and was finally diagnosed with LCNEC(pT2bN0M0)based on the results of postoperative immunohistochemical *** the 10-mo follow-up,no signs of tumor recurrence or metastasis were *** Immunohistochemical examination is essential for diagnosing LCNEC of the *** diagnosis and multidisciplinary treatment in the early stage of the disease are crucial for improving the prognosis.

关键词： Large cell neuroendocrine carcinoma Bladder tumor Pathology Immunohistochemistry Partial cystectomy Case report

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World Journal of Gastroenterology 2024年第9期30卷 1224-1236页

作者： Hai-Yang Li Lin-Lin Zheng Nan Hu Zhi-Hao Wang Chang-Cheng Tao Ya-Ru Wang yue Liu Zulihumaer Aizimuaji Hong-Wei Wang Rui-Qi Zheng Ting Xiao Wei-Qi rong Department of Hepatobiliary Surgery National Cancer Center/National Clinical Research Center for Cancer/Cancer HospitalChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijing 100021China Department of Hepatobiliary Hernia Surgery Liaocheng Dongcangfu People’s HospitalLiaocheng 252000Shandong ProvinceChina State Key Laboratory of Molecular Oncology Department of Etiology and CarcinogenesisNational Cancer Center/National Clinical Research Center for Cancer/Cancer HospitalChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijing 100021China

BACKGROUND As a critical early event in hepatocellular carcinogenesis,telomerase activation might be a promising and critical biomarker for hepatocellular carcinoma(HCC)patients,and its function in the genesis and treatment of HCC has gained much attention over the past two *** To perform a bibliometric analysis to systematically assess the current state of research on HCC-related *** The Web of Science Core Collection and PubMed were systematically searched to retrieve publications pertaining to HCC/telomerase limited to“articles”and“reviews”published in English.A total of 873 relevant publications related to HCC and telomerase were *** employed the Bibliometrix package in R to extract and analyze the fundamental information of the publications,such as the trends in the publications,citation counts,most prolific or influential writers,and most popular journals;to screen for keywords occurring at high frequency;and to draw collaboration and cluster analysis charts on the basis of coauthorship and *** was utilized to compile and visualize the bibliometric *** A surge of 51 publications on HCC/telomerase research occurred in 2016,the most productive year from 1996 to 2023,accompanied by the peak citation count recorded in *** to December 2023,35226 citations were made to all publications,an average of 46.6 citations to each *** United States received the most citations(n=13531),followed by China(n=7427)and Japan(n=5754).In terms of national cooperation,China presented the highest centrality,its strongest bonds being to the United States and *** the 20 academic institutions with the most publications,ten came from China and the rest of Asia,though the University of Paris Cité,Public Assistance-Hospitals of Paris,and the National Institute of Health and Medical Research(INSERM)were the most *** for individual contributions,Hisatomi H,Kaneko S,and Ide T were the three most prolific a

关键词： Telomerase Bibliometric analysis Telomerase reverse transcriptase Prognosis Treatment Hepatocellular carcinoma

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Research on the development methodology for clinical practice guidelines for organic integration of traditional Chinese medicine and Western medicine

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Military Medical Research 2024年第3期11卷 313-322页

作者： Ying-Hui Jin Yan-Ping Wang Ying-Lan Xie Gui-Hua Tian Xiao-Yu Zhang Nan-Nan Shi Ke-Hu Yang Xin Sun Yao-Long Chen Da-rong Wu Xin-Feng Guo Long Ge Chen Zhao Cheng Lu Yin Jiang Jing Guo Si-Yu Yan Yong-Bo Wang Qiao Huang xiang-Ying Ren Ying-yue Rao Yun-Yun Wang Meng-Qian Yuan xian-Tao Zeng Hong-Cai Shang Center for Evidence-Based and Translational Medicine Zhongnan Hospital of Wuhan UniversityWuhan 430071China Institute of Basic Research in Clinical Medicine China Academy of Chinese Medical SciencesBeijing 100700China China Center for Evidence Based Traditional Chinese Medicine Beijing 100029China Hubei Provincial Hospital of Traditional Chinese Medicine Wuhan 430074China Key Laboratory of Chinese Internal Medicine of Ministry of Education and Beijing Dongzhimen HospitalBeijing University of Chinese MedicineBeijing 100700China Evidence-Based Medicine Center School of Basic Medical SciencesLanzhou UniversityLanzhou 730000China China Center for Evidence-Based Medicine West China Hospital of Sichuan UniversityChengdu 610041China State Key Laboratory of Dampness Syndrome of Chinese Medicine the Second Affliated Hospital of Guangzhou University of Chinese MedicineGuangzhou 510120China Evidence-based Medicine Team Guangdong Provincial Hospital of Traditional Chinese MedicineGuangzhou 510120China Nanjing University of Chinese Medicine Nanjing 210023China Jiangsu Province Hospital of Chinese Medicine Nanjing 210029China

Integrated traditional Chinese medicine(TCM)and Western medicine(WM)is a new medical science grounded in the knowledge bases of both TCM and WM,which then forms a unique modern medical system in *** TCM and WM has a long history in China,and has made important achievements in the process of clinical diagnosis and ***,the methodological defects in currently published clinical practice guidelines(CPGs)limit its *** organic integration of TCM and WM is a deeper integration of TCM and *** realize the progression of"integration"to"organic integration",a targeted and standardized guideline development methodology is ***,the purpose of this study is to establish a standardized development procedure for clinical practice guidelines for the organic integration of TCM and WM to promote the systematic integration of TCM and WM research results into clinical practice guidelines in order to achieve optimal results as the whole is greater than the sum of the parts.

关键词： Methodology Traditional Chinese medicine Western medicine Organic integration Clinical practice guidelines(CPGs)

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携双抗体纳米微泡对卵巢癌细胞增殖活性的影响

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中国组织工程研究 2024年第3期28卷 341-346页

作者：吴天赵越胡蓉新疆医科大学第一附属医院妇产超声诊断科新疆超声医学重点实验室新疆维吾尔自治区乌鲁木齐市830054

背景:免疫治疗可通过多种途径增强抗肿瘤免疫反应,联合免疫治疗是一个更好的选择。超声靶向微泡破坏技术可将药物、基因、抗体和细胞因子直接输送到免疫细胞的细胞质中,进一步增强免疫应答。然而,通过超声靶向微泡破坏技术将携趋化因子... 详细信息

背景:免疫治疗可通过多种途径增强抗肿瘤免疫反应,联合免疫治疗是一个更好的选择。超声靶向微泡破坏技术可将药物、基因、抗体和细胞因子直接输送到免疫细胞的细胞质中,进一步增强免疫应答。然而,通过超声靶向微泡破坏技术将携趋化因子受体4抗体和细胞程序性死亡配体1抗体双靶向纳米微泡应用于卵巢癌的治疗尚未见报道。目的:探讨超声辐照携趋化因子受体4抗体和程序性死亡配体1抗体双靶向纳米微泡对卵巢癌细胞增殖、迁移的影响。方法:对IOSE-80正常卵巢上皮细胞及SKOV3、CAOV3卵巢癌细胞进行培养及扩增,采用双标记荧光免疫法对3种细胞中的趋化因子受体4和细胞程序性死亡配体1蛋白进行共定位,蛋白质印迹法检测3种细胞中趋化因子受体4和程序性死亡配体1蛋白相对表达量,并筛选出实验细胞。制备携不同配体的靶向纳米微泡后,即单纯的纳米微泡、携趋化因子受体4抗体的纳米微泡、携趋化因子受体4和程序性死亡配体1抗体的纳米微泡。取对数生长期的SKOV3卵巢癌细胞,分6组处理:A组加入McCoy’s 5A培养基,B组加入含基质细胞衍生因子1的McCoy’s 5A培养基,C组加入单纯的纳米微泡溶液与含基质细胞衍生因子1的McCoy’s 5A培养基,D组加入携趋化因子受体4抗体的纳米微泡溶液与含基质细胞衍生因子1的McCoy’s 5A培养基,E组加入携趋化因子受体4和程序性死亡配体1抗体的纳米微泡溶液与含基质细胞衍生因子1的McCoy’s 5A培养基,F组加入单纯的纳米微泡溶液,超声辐照120 s,孵育48 h后,采用CCK-8法检测细胞存活率,通过伤口愈合实验检测B-E组细胞的愈合迁移能力。结果与结论:①免疫荧光染色显示,3种细胞均可表达趋化因子受体4和程序性死亡配体1蛋白;蛋白质印迹法检测显示,SKOV3、CAOV3卵巢癌细胞中的趋化因子受体4和程序性死亡配体1蛋白表达量均高于IOSE-80正常卵巢上皮细胞(P<0.05);②CCK-8检测结果显示,B组细胞存活率高于A组(P<0.05),F组细胞存活率低于A组(P<0.05),B-E组细胞存活率逐渐降低,组间两两比较差异有显著性意义(P<0.05);③伤口愈合实验显示,B-E组细胞愈合率逐渐降低,组间两两比较差异有显著性意义(P<0.05);④结果表明,超声靶向微泡破坏技术联合携趋化因子受体4抗体和程序性死亡配体1抗体双靶向纳米微泡可显著抑制卵巢癌细胞的增殖迁移。

关键词：卵巢肿瘤增殖靶向纳米微泡超声靶向微泡破坏趋化因子受体4(CXCR4) 程序性死亡配体1(PD-L1)

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点云空间与反射强度融合的非结构化道路可行驶区域检测

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控制理论与应用 2024年第5期41卷 847-854页

作者：周越洋徐江钟珊龚声蓉东北石油大学计算机与信息技术学院黑龙江大庆163319 常熟理工学院计算机科学与工程学院江苏苏州215500

可行驶区域检测旨在检测和提取智能车辆在道路上可行进的区域,目前主流的检测方法主要基于三维激光雷达的空间特征实现,难以处理路面边缘无清晰空间特征的非结构化道路.为此,本文提出了一种基于点云空间和反射强度融合的非结构化道路可... 详细信息

可行驶区域检测旨在检测和提取智能车辆在道路上可行进的区域,目前主流的检测方法主要基于三维激光雷达的空间特征实现,难以处理路面边缘无清晰空间特征的非结构化道路.为此,本文提出了一种基于点云空间和反射强度融合的非结构化道路可行驶区域检测方法.首先,通过融合反射强度因子改进了基于空间特征的柱坐标系检测模型;然后,使用强度和降维空间检测对检测精度较低的环形检测模型进行优化,并将其与柱坐标系检测模型联合使用以提高方法检测准确率;最后,在自录实际道路数据集上进行对比实验.实验结果表明本文方法显著提高了非结构化道路可行驶区域检测的成功率与精确率,在结构化道路上也具有良好效果.

关键词：智能驾驶非结构化道路三维激光雷达反射强度空间分布区域检测

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Haplotype-resolved and chromosome-scale genomes provide insights into co-adaptation between the Amur tiger and Amur leopard

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Zoological Research 2024年第3期45卷 464-467页

作者： Hai-Meng Li Bo-Yang Liu Min-Hui Shi Le Zhang Shang-Chen Yang Sunil Kumar Sahu Liang-Yu Cui Shan-Lin Liu Nicolas Dussex yue Ma Dan Liu Wei-Yao Kong Hao-rong Lu yue Zhao Love Dalén Huan Liu Tian-Ming Lan Guang-Shun Jiang Yan-Chun Xu College of Wildlife and Protected Area Northeast Forestry UniversityHarbinHeilongjiang 150040China State Key Laboratory of Agricultural Genomics BGI ResearchShenzhenGuangdong 518083China College of Life Sciences University of Chinese Academy of SciencesBeijing 100049China College of Life Sciences Zhejiang UniversityHangzhouZhejiang 310058China BGI Research WuhanHubei 430074China Department of Entomology College of Plant ProtectionChina Agricultural UniversityBeijing 100193China Centre for Palaeogenetics Svante Arrhenius väg 20CStockholm 10691Sweden Department of Zoology Stockholm UniversityStockholm 10691Sweden Department of Bioinformatics and Genetics Swedish Museum of Natural HistoryStockholm 10691Sweden Heilongjiang Siberian Tiger Park HarbinHeilongjiang 150000China Jinlin Provincial Academy of Forestry Science ChangchunJilin 130033China China National GeneBank BGI ResearchShenzhenGuangdong 518120China Guangdong Provincial Key Laboratory of Genome Read and Write BGI ResearchShenzhenGuangdong 518083China BGI Life Science Joint Research Center Northeast Forestry UniversityHarbinHeilongjiang 150040China Feline Research Center of National Forestry and Grassland Administration College of Wildlife and Protected AreaNortheast Forestry UniversityHarbinHeilongjiang 150040China National Forestry and Grassland Administration Research Center of Engineering Technology for Wildlife Conservation and Utilization HarbinHeilongjiang 150040China

DEAR EDITOR,Big cats,such as Amur tigers(Panthera tigris altaica)and Amur leopards(*** orientalis),are apex predator and have evolved specialized traits for hunting and carnivory(Moya et al.,2022),thus playing a crucial role in maintaining biodiversity and ecosystem integrity by regulating prey-predator ***,human-induced pressures,habitat fragmentation,and environmental alterations have restricted these species in small and isolated ***,all extant big cats are categorized as endangered or threatened according to their conservation *** tigers and Amur leopards share overlapping geographic ranges,habitats,and certain prey species in the forests of Northeast Asia(Jiang et al.,2015).To reduce interspecies conflict,these carnivores exhibit differentiated dietary and temporal *** tigers predominantly prey on large ungulates,while Amur leopards hunt small to medium-sized animals(Sugimoto et al.,2016).Additionally,they occupy different temporal niches,with tigers being active at night and leopards more active during the *** spatial and temporal niche partitioning,interspecific competition between these two species is ***,benefiting from their greater size,have a competitive advantage over leopards,which can manifest in occasional leopard predation by tigers and declines in leopard populations with increasing tiger density(Jiang et al.,2015).Tigers also displace leopards from marginal habitats in nature reserves where they coexist.

关键词： habitat Panthera resolved

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The only purple-flower species in Actaea *** pollinated by a hornet

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Journal of Plant Ecology 2024年第4期17卷 181-196页

作者： Lin-Feng Qiu Jiu-Dong Zhang Ying Li Xiao-Ying Liu Dan-Qing Zhang Long Huang Ya-Peng Yang Shi-Yu Wang yue-Yi Li Zi-Wei Ma Jie Sui Lin Wang Xiao-Fen Che xian-Hua Tian Yi Ren Jian-Qiang Zhang National Engineering Laboratory for Resource Development of Endangered Crude Drugs in Northwest China College of Life SciencesShaanxi Normal UniversityXi’an 710119China Key Laboratory of Medicinal Plant Resource and Natural Pharmaceutical Chemistry of Ministry of Education Shaanxi Normal UniversityXi’an 710119China College of Biological and Environmental Engineering Xi’an UniversityXi’an 710065China

Examining the pollination biology of plant species is not only crucial for enhancing our understanding of their reproductive biology,but also essential for elucidating their adaptation and evolutionary ***,we investigated the breeding system and pollination biology of two closely related species in *** flower of *** is unique in the genus with purple and chartaceous(paper-like)sepals,fewer stamens with yellow anthers and purple *** three seasons of field observation and exclusion experiments,we determined that *** was primarily pollinated by a hornet species,Vespa bicolor,which also served as the most efficient *** contrast,*** was primarily pollinated by large *** purpurea exhibited a significantly higher cumulative nectar volume than ***,which could be a crucial factor in attracting ***.A control experiment further demonstrated that removing the nectar leaf(petal)significantly decreased the visiting frequency of *** system studies revealed that both species were self-compatible,yet they primarily underwent outcrossing in natural *** study presents a compelling case of possible pollinator shift in *** accompanied by morphological divergence.A more in-depth investigation of this system would offer crucial insights into the extent to which pollinators are involved in the plant speciation process and whether they contribute to reproductive isolation between closely related species.

关键词： Actaea purpurea Actaea japonica breeding system pollinator shift speciation Vespa bicolor

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Exploring the mechanism of active ingredients of Smilacis Glabrae Rhizoma in treating migraine headache through network pharmacology and animal experiments

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Integrative Medicine Discovery 2024年第18期8卷 1-10页

作者： Dao-xian Shu Yan-Yan Chen Jiao-rong Wang Ying Wang Yong-Fang Gu Yan-Xin Wang Department of Brain DiseaseⅡ The First Affiliated Hospital of Anhui University of Traditional Chinese MedicineHefei 230031China

Background:To explore the potential mechanism of action of the active ingredients of Smilacis Glabrae Rhizoma(SGR)in the treatment of migraine using network pharmacology and in vivo ***:Through the search of Traditional Chinese Medicines Systems Pharmacology Database and Analysis Platform,Genecards,Drugbank and other databases,we obtained active ingredients,targets of SGR and related disease targets of migraine,and took the intersection for protein-protein interactions *** constructing the network diagram,network topology analysis was performed to derive the core targets and key active ingredients,and Gene Ontology enrichment and Kyoto Encyclopedia of Genes and Genomes enrichment analyses were ***,molecular docking was performed and validated by in vivo *** vivo experiments,18 male BALB/c mice were selected,and the SGR group was fed with SGR drinking tablet concentrate,and nitroglycerin injection was used to construct a mouse model of ***-linked immunosorbent assay test was used to detect the levels of TNF-α,IL-1β,IL-6,and AKT1 in ***:The results showed that the core targets of SGR for the treatment of migraine were TNF-α,IL-1β,IL-6,and *** core targets and key active ingredients had better binding *** with the blank group,the number of head scratching in the model group *** with the model group,there was a significant reduction of the number of head scratching in the SGR *** comparison with the blank group,the protein level in the plasma in the model group was markedly *** with the model group,the protein level in the SGR group was significantly ***:SGR has the characteristics of improving migraine based on multi-targets,multi-components and multi-pathways,and the mechanism of action may be related to the inhibition of the release of inflammatory factors,neuron protection,and interference with apoptosis and other processes.

关键词： migraine Smilacis Glabrae Rhizoma network pharmacology molecular docking mechanism of effect

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