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Assessment of pathogenicity and functional characterization of APPL1 gene mutations in diabetic patients

World Journal of Diabetes 2024年第2期15卷 275-286页

作者： Ping Shi Yang Tian Feng Xu lu-Na Liu Wan-Hong Wu Ying-Zhou Shi An-qi Dai Hang-Yu Fang Kun-Xia Li Chao Xu department of Endocrinology Shandong Provincial Hospital Affiliated to Shandong First Medical UniversityJinan 250021Shandong ProvinceChina department of Pediatric Yantai Yuhuangding Hospital Affiliated to Qingdao UniversityYantai 264099Shandong ProvinceChina

BACKGROUND Adaptor protein,phosphotyrosine interacting with PH domain and leucine zipper 1(APPL1)plays a crucial role in regulating insulin signaling and glucose *** in the APPL1 gene have been associated with the development of maturity-onset diabetes of the young type 14(MODY14).Currently,only two mutations[c.1655T>A(***552*)and c.281G>A p.(Asp94Asn)]have been identified in association with this *** the limited understanding of MODY14,it is imperative to identify additional cases and carry out comprehensive research on MODY14 and APPL1 *** To assess the pathogenicity of APPL1 gene mutations in diabetic patients and to characterize the functional role of the APPL1 *** Patients exhibiting clinical signs and a medical history suggestive of MODY were screened for the *** exome sequencing was performed on the patients as well as their family *** pathogenicity of the identified APPL1 variants was predicted on the basis of bioinformatics *** addition,the pathogenicity of the novel APPL1 variant was preliminarily evaluated through in vitro functional ***,the impact of these variants on APPL1 protein expression and the insulin pathway were assessed,and the potential mechanism underlying the interaction between the APPL1 protein and the insulin receptor was further *** A total of five novel mutations were identified,including four missense mutations(Asp632Tyr,Arg633His,Arg532Gln,and Ile642Met)and one intronic mutation(1153-16A>T).Pathogenicity prediction analysis revealed that the Arg532Gln was pathogenic across all *** Asp632Tyr and Arg633His variants also had pathogenicity based on *** addition,multiple alignment of amino acid sequences showed that the Arg532Gln,Asp632Tyr,and Arg633His variants were conserved across different ***,in in vitro functional experiments,both the c.1894G>T(at Asp632Tyr)and c.1595G>A(at Arg532Gln)mutations

关键词： Adaptor protein,phosphotyrosine interacting with PH domain and leucine zipper 1 Maturity-onset diabetes of the young Bioinformatics analysis Gene mutation Domain

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Plasma exchange is the most dffective therapy in the treatment of ttp/hus

Plasma exchange is the most dffective therapy in the treatme...

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第一届全国疑难重型肝病大会、第四届全国人工肝及血液净化学术年会

作者： Jun Tian,department of blood purification,qi lu hospital of shandong university,jinan,china Li-na Geng,department of blood purification,qi lu hospital of shandong university,jinan,china

Aim:To evaluate the effection of PE in the therapy of TTP/***:Seventeen patients of TTP/HUS was divided into 2 groups,the treatment of group A included glucocorticoid *** the treatment of group B was administrated PE in addition to the treatment of group A. Double lumen catheter were used to insert into the central vein,connected to the PE machine, IQ21,OP-08 *** rate of blood pump was 60-120ml/min,The exchange volume of blood plasma were 1500-3000ml each time,totally 3-9 ***:9 of 10 patients in group A died,only 1 survived,while all patients in group B took a favorable turn. Conclusion:PE is the most important therapy in the treatment of TIP.

关键词： Plasma exchange is the most dffective therapy in the treatment of ttp/hus

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Matrix metalloproteinases-2,-9 and tissue inhibitor of metallo-proteinase-1 in lung cancer invasion and metastasis

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中华医学杂志(英文版) 2005年第1期000卷 70-73页

作者： MING Shu hong, SUN Tie ying, XIAO Wei and XU Xiao mao department, Beijing hospital, Beijing 100730, china (Ming SH, Sun TY and Xu XM)Respiratory department, qi lu hospital, shandong university, jinan 250000, china (Xiao W) Respiratory department Beijing Hospital Beijing 100730 China Respiratory department Qi Lu Hospital Shandong University Jinan 250000 China

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Chinese Expert Consensus on the Diagnosis and Treatment of Adult Dermatomyositis (2022)

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International Journal of Dermatology and Venereology 2024年第3期7卷 163-173页

作者： Hua Cao Ai-Jun Chen Yong Cui Dan-qi Deng Xing-Hua Gao Yan-Ling He Xiao-jing Kang Hong-Zhong jin Cheng-Xin Li Feng Li Heng-jin Li Wen-Jun Liao Xiao-Ming Liu qian-jin lu Yan lu Meng Pan Wei-Hua Pan Xiao-Ming Shu qing Sun Ke-Yun Tang Juan Tao Yu Wang Ting Xiao Fu-Ren Zhang Han-Lin Zhang Dermatology Branch of the china International Exchange and Promotion Association for Medical and Health Care National Clinical Research Center for Dermatologic and Immunologic Diseases department of Dermatology Ruijin Hospital Affiliated to Shanghai Jiao Tong University School of MedicineShanghai 200025China department of Dermatology First Affiliated Hospital of Chongqing Medical UniversityChongqing 400042China department of Dermatology China-Japan Friendship HospitalBeijing 100029China department of Dermatology the Second Affiliated Hospital of Kunming Medical UniversityKunmingYunnan 650101China department of Dermatology the First Hospital of China Medical UniversityShenyangLiaoning 110001China department of Dermatology Beijing Chaoyang Hospital Affiliated to Capital Medical UniversityBeijing 100020China department of Dermatology and Venereology People’s Hospital of Xinjiang Uygur Autonomous RegionUrumqiXinjiang Uygur Autonomous Region 830001China department of Dermatology State Key Laboratory of Complex Severe and Rare DiseasesPeking Union Medical College HospitalChinese Academy of Medical Science and Peking Union Medical CollegeBeijing 100730China department of Dermatology First Medical CenterPLA General HospitalBeijing 100853China department of Dermatology Hainan Hospital of PLA General HospitalSanyaHainan 572013China department of Dermatology Xijing HospitalAir Force Medical UniversityXi’anShaanxi 710032China department of Dermatology Huazhong University of Science and Technology Union Shenzhen HospitalShenzhenGuangdong 518052China hospital for Skin Diseases(Institute of Dermatology) Chinese Academy of Medical Sciences and Peking Union Medical CollegeNanjingJiangsu 210042China department of Dermatology Jiangsu Province Hospitalthe First Affiliated Hospital of Nanjing Medical UniversityNanjingJiangsu 210029China department of Dermatology Shanghai Changzheng HospitalSecond Affiliated Hospital of Naval Medical UniversityShanghai 200003China department of Rheumatology China-Japan Friendship HospitalBeijing 100029China department of Dermatology Qilu Hospital of Shandong UniversityJinanShandong 250012China department of Dermatology Union Hospital

Dermatomyositis,an idiopathic inflammatory myopathy,is characterized by distinctive skin manifestations,proximal muscle weakness,and multiple organ involvement and can be accompanied by *** provide a reference for dermatologists and clinicians in other relevant fields of clinical practice,experts from the Dermatology Branch of the china International Exchange and Promotion Association for Medical and Health Care and the National Clinical Research Center for Dermatologic and Immunologic Diseases developed this consensus on the diagnosis and treatment of adult dermatomyositis using Chinese and international literature and expert advice.

关键词： dermatomyositis adult diagnosis treatment clinical protocols expert consensus

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Copper-Catalyzed Aerobic Oxidative Cleavage of Unstrained Carbon-Carbon Bonds of 1,1-Disubstituted Alkenes with Sulfonyl Hydrazides

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Chinese Journal of Chemistry 2021年第4期39卷 859-865页

作者： Dong Yi Linying He Zhongyu qi Zhijie Zhang Mengshun Li ji lu Jun Wei Xi Du qiang Fu Siping Wei department of Medicinal Chemistry School of PharmacySouthwest Medical UniversityLuzhouSichuan 646000China People’s hospital of Xinjin District ChengduSichuan 611430China School of Pharmacy Binzhou Medical UniversityYantaiShandong 264003China Central Nervous System Drug Key Laboratory of Sichuan Province LuzhouSichuan 646000Chino

Main observation and conclusion Alkoxy radical-mediated carbon-carbon bond cleavages have emerged as a powerful strategy to complement traditional ionic-type ***,carbon-carbon cleavage reaction triggered by alkoxy radical intermediate derived from the combination of alkyl radical and dioxygen,is scarce and ***,we report alkoxy radical,which was generated from alkyl radical and dioxygen,mediated selective cleavage of unstrained carbon-carbon bond for the oxysulfonylation of 1,1-disubstituted alkenes,providing facile access to a variety of valuableβ-keto *** experiments indicated alkoxy radical intermediate that underwent subsequent regioselectiveβ-scission might be involved in the reaction and preliminary computational studies were conducted to provide a detailed explanation on the regioselectivity of the C-C bond ***,the strategy was successfully applied for constructing uneasily obtained architecturally intriguing molecules.

关键词： Carbon-carbon cleavage Alkoxy radical Copper-catalyzed 1,1-Disubstituted alkenes Sulfonyl hydrazides

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Characterization of acute-on-chronic liver diseases: A multicenter prospective cohort study

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World Journal of Hepatology 2024年第5期16卷 809-821页

作者： Yuan-Yao Zhang Sen luo Hai Li Shu-Ning Sun Xian-Bo Wang Xin Zheng Yan Huang Bei-Ling Li Yan-Hang Gao Zhi-Ping qian Feng Liu Xiao-Bo lu Jun-Ping Liu Hao-Tang Ren Yu-Bao Zheng Hua-Dong Yan Guo-Hong Deng Liang qiao Yan Zhang Wen-Yi Gu Xiao-Mei Xiang Yi Zhou Yi-Xin Hou Qun Zhang Yan Xiong Cong-Cong Zou Jun Chen Ze-Bing Huang Xiu-Hua jiang Ting-Ting qi Yuan-Yuan Chen Na Gao Chun-Yan Liu Wei Yuan Xue Mei jing Li Tao Li Rong-jiong Zheng Xin-Yi Zhou Jun Zhao Zhong-ji Meng department of Infectious Disease Institute of Biomedical ResearchRegulatory Mechanism and Targeted Therapy for Liver Cancer Shiyan Key LaboratoryHubei provincial Clinical Research Center for Precise Diagnosis and Treatment of Liver CancerTaihe HospitalHubei University of MedicineShiyan 442000Hubei ProvinceChina department of Gastroenterology Renji HospitalSchool of MedicineShanghai Jiao Tong UniversityShanghai 200120China department of Infectious Diseases Southwest HospitalThe Third Military Medical University(Army Medical University)Chongqing 400000China Center of Integrative Medicine Beijing Ditan HospitalCapital Medical UniversityBeijing 100020China department of Infectious Diseases Institute of Infection and ImmunologyUnion HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430020Hubei ProvinceChina department of Infectious Diseases Hunan Key Laboratory of Viral HepatitisXiangya HospitalCentral South UniversityChangsha 110051Hunan ProvinceChina Hepatology Unit Department of Infectious DiseasesNanfang HospitalSouthern Medical UniversityGuangzhou 510515Guangdong ProvinceChina department of Hepatology The First Hospital of Jilin UniversityChangchun 130021Jilin ProvinceChina department of Liver Intensive Care Unit Shanghai Public Health Clinical CentreFudan UniversityShanghai 200093China Tianjin Institute of Hepatology Nankai University Second People's HospitalTianjin 300192China Infectious Disease Center The First Affiliated Hospital of Xinjiang Medical UniversityUrumqi 830054Xinjiang Uygur Autonomous RegionChina department of Infectious Diseases and Hepatology The Second Hospital of Shandong UniversityJinan 250000Shandong ProvinceChina State Key Laboratory for Diagnosis and Treatment of Infectious Diseases Collaborative Innovation Center for Diagnosis and Treatment of Infectious DiseaseThe First Affiliated HospitalZhejiang University School of MedicineHangzhou 310000Zhejiang ProvinceChina department of Infectious Diseases The Thir

BACKGROUND Acute-on-chronic liver disease(AoCLD)accounts for the majority of patients hospitalized in the department of Hepatology or Infectious *** To explore the characterization of AoCLD to provide theoretical guidance for the accurate diagnosis and prognosis of *** Patients with AoCLD from the Chinese Acute-on-Chronic Liver Failure(ACLF)study cohort were included in this *** clinical characteristics and outcomes,and the 90-d survival rate associated with each clinical type of AoCLD were analyzed,using the Kaplan-Meier method and the log-rank *** A total of 3375 patients with AoCLD were enrolled,including 1679(49.7%)patients with liver cirrhosis acute decompensation(LC-AD),850(25.2%)patients with ACLF,577(17.1%)patients with chronic hepatitis acute exacer-bation(CHAE),and 269(8.0%)patients with liver cirrhosis active phase(LC-A).The most common cause of chronic liver disease(CLD)was HBV infection(71.4%).The most common precipitants of AoCLD was bacterial infection(22.8%).The 90-d mortality rates of each clinical subtype of AoCLD were 43.4%(232/535)for type-C ACLF,36.0%(36/100)for type-B ACLF,27.0%(58/215)for type-A ACLF,9.0%(151/1679)for LC-AD,3.0%(8/269)for LC-A,and 1.2%(7/577)for *** HBV infection is the main cause of CLD,and bacterial infection is the main precipitant of *** most common clinical type of AoCLD is *** diagnosis and timely intervention are needed to reduce the mortality of patients with LC-AD or ACLF.

关键词： Acute-on-chronic liver disease Acute-on-chronic liver failure Liver cirrhosis Clinical features Prognosis

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思美泰治疗酒精性肝病疗效观察

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胃肠病学和肝病学杂志 2002年第3期11卷 239-240,242页

作者：邢全台袁孟彪高新民山东大学齐鲁医院消化内科济南250012 山东省济阳县医院

目的　观察思美泰粉针剂对酒精性肝病的疗效和安全性。方法　将临床确诊为酒精性肝病的 12 0例门诊或住院病人随机分为两组 ,治疗组给予思美泰 1 0g每日一次静点 ,对照组给予维生素C 2 0g、维生素B60 2g静点 ,疗程 2 0天。结果　治疗... 详细信息

目的　观察思美泰粉针剂对酒精性肝病的疗效和安全性。方法　将临床确诊为酒精性肝病的 12 0例门诊或住院病人随机分为两组 ,治疗组给予思美泰 1 0g每日一次静点 ,对照组给予维生素C 2 0g、维生素B60 2g静点 ,疗程 2 0天。结果　治疗组失访 4例 ,对照组失访 6例。治疗组显效率 5 3 6 %,总有效率为 80 4 %;对照组显效率为 38 9%,总有效率为 74 1%。两组比较 ,治疗组显效率明显高于对照组 (t =2 6 0 ,P 0 10 )。两组均未见明显不良反应。结论思美泰粉针剂治疗酒精性肝病有较好疗效。

关键词：维生素C 维生素B6 思美泰治疗酒精性肝病疗效观察

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呼吸窘迫综合征新生患儿血浆中miRNAs的差异性表达及临床意义

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新疆医科大学学报 2024年第3期47卷 372-377页

作者：张桓褚瑞海薛琦路真潍坊医学院山东潍坊261000 潍坊市人民医院感染科山东潍坊261000

目的探讨呼吸窘迫综合征(Respiratory distress syndrome, RDS)新生患儿血浆miRNAs的差异表达及意义。方法选取68例RDS新生患儿、15例健康新生儿为研究对象,随机各选取6例进行血浆测序,用反转录聚合酶链反应(Reverse transcription-po... 详细信息

目的探讨呼吸窘迫综合征(Respiratory distress syndrome, RDS)新生患儿血浆miRNAs的差异表达及意义。方法选取68例RDS新生患儿、15例健康新生儿为研究对象,随机各选取6例进行血浆测序,用反转录聚合酶链反应(Reverse transcription-polymerase chain reaction, RT-PCR)检测血浆miRNAs表达。鉴定出差异表达最显著的两个miRNAs进行后续研究,用RT-PCR检测RDS发作期、出院时、出院后1个月时的miRNAs水平。用受试者工作特征曲线(Receiver operating characteristic curve,ROC)分析发作期时血浆miRNAs表达水平诊断RDS严重程度的价值。分析发作期时miRNAs表达水平与动脉血氧分压(Partial pressure of oxygen, PaO_(2))、二氧化碳分压(Partial pressure of carbon dioxide, PaCO_(2))、吸氧分数(Fraction of oxygen uptake, FiO_(2))、氧合指数(PaO_(2)/FiO_(2))、肌酸激酶同工酶(Creatine kinase isoenzyme, CK-MB)、乳酸脱氢酶(Lactic dehydrogenase, LDH)、超氧化物歧化酶(Superoxide dismutase, SOD)、丙二醛(Malondialdehyde, MDA)水平的相关性。结果测序结果显示,RDS新生患儿与健康新生儿血浆中共1 230种差异表达miRNAs,其中693种表达上调,537种表达下调。miRNA-200b及miRNA-449差异表达倍数>20,是差异性表达最显著的miRNAs。出院后1个月时RDS新生患儿血浆miRNA-200b及miRNA-449的表达水平均低于发作期和出院时(P449诊断RDS的曲线下面积(Area under curve,AUC)分别为0.702、0.763,灵敏度分别为73.6%、76.9%,特异度分别为69.8%、72.8%。血浆miRNA-200b与miRNA-449相对表达水平分别与PaO_(2)、PaO_(2)/FiO_(2)呈负相关(P449分别与CK-MB、LDH、MDA呈正相关(P449差异较为显著,二者在RDS新生患儿血浆中表达水平升高,且与呼吸功能损伤、心肌损伤和氧化应激损伤相关。

关键词：呼吸窘迫综合征 miRNA 心肌损伤氧化应激

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Loss of the vitamin D receptor triggers senescence in chronic myeloid leukemia via DDIT4-mediated DNA damage

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Journal of Molecular Cell Biology 2023年第10期15卷 65-76页

作者： Yan Xu Wentao qi Chengzu Zheng Yuan Li Zhiyuan lu jianmin Guan Chunhua lu Baobing Zhao Key Lab of Chemical Biology(MOE) School of Pharmaceutical SciencesCheeloo College of MedicineShandong UniversityJinan 250012China NMPA Key Laboratory for Technology Research and Evaluation of Drug Products School of Pharmaceutical SciencesCheeloo College of MedicineShandong UniversityJinan 250012China department of Pharmacology School of Pharmaceutical SciencesCheeloo College of MedicineShandong UniversityJinan 250012China School of Pharmaceutical Sciences&Institute of Materia Medica Shandong First Medical University&Shandong Academy of Medical SciencesJinan 250012China department of Hematology Heze Municipal HospitalHeze 274031China

Chronic myeloid leukemia(CML)is a hematopoietic malignancy driven by the fusion gene BCR::*** resistance to tyrosine kinase inhibitors(TKIs),due to BCR::ABL1 mutations and residual leukemia stem cells(LSCs),remains a major challenge in CML ***,we revealed the requirement of the vitamin D receptor(VDR)in the progression of *** was upregulated by BCR::ABL1 and highly expressed in CML ***,VDR knockdown inhibited the proliferation of CML cells driven by both BCR::ABL1 and TKI-resistant BCR::ABL1 ***,VDR transcriptionally regulated DDIT4 expression;reduced DDIT4 levels upon VDR knockdown triggered DNA damage and senescence via p53 signaling activation in CML ***,VDR deficiency not only suppressed tumor burden and progression in primary CML mice but also reduced the self-renewal capacity of ***,our study demonstrated that targeting VDR is a promising strategy to overcome TKI resistance and eradicate LSCs in CML.

关键词： vitamin D receptor senescence chronic myeloid leukemia DDIT4

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医疗机构落实药品集中带量采购政策中的问题及建议

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中华医院管理杂志 2024年第7期40卷 535-540页

作者：孔维华谯琦刘国强陈楠沈承武陈琦邱峰王建华姜玲卢庆红伍俊妍王亚峰林丽开冯佳佳程虹武汉大学医院管理研究所武汉430071 武汉大学中南医院药学部武汉430071 河北医科大学附属第三医院药学部石家庄050051 郑州人民医院药学部郑州450003 山东第一医科大学附属省立医院药学部济南250021 贵州省人民医院药学部贵阳550002 重庆医科大学附属第一医院药学部重庆400016 新疆医科大学附属第一医院药学部乌鲁木齐830011 安徽省立医院药学部合肥230001 江西省儿童医院药学部南昌360000 中山大学孙逸仙纪念医院药学部广州510120 青海省人民医院药学部西宁810000

目的探讨医疗机构实施药品集中带量采购(以下简称集采)政策过程中面临的问题,并提出相应的优化建议。方法基于德尔菲法,于2023年8—12月,通过立意抽样选取全国11名三级甲等医院药学专家进行调查研究,调查内容为"推进国家药品集采提速扩... 详细信息

目的探讨医疗机构实施药品集中带量采购(以下简称集采)政策过程中面临的问题,并提出相应的优化建议。方法基于德尔菲法,于2023年8—12月,通过立意抽样选取全国11名三级甲等医院药学专家进行调查研究,调查内容为"推进国家药品集采提速扩面、集采医保资金结余留用的相关政策建议"。结果调查参与者反馈了医疗机构在药品集采政策实施中存在的系列问题,并提出了相应的优化方法。专家咨询的肯德尔和谐系数为0.332(P4.45分),同时对于加强监测预警和协调调度,切实保障集采药品供应的建议赋分最高且集中程度最高(重要性均数为4.91分,变异系数为0.06)。结论本研究通过德尔菲法调查揭示了医疗机构实施药品集采中的问题并提出优化方法,对于医药领域实施的改进和未来政策调整具有一定的参考价值。

关键词：集体采购药品集中带量采购医保资金结余留用德尔菲法

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