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Microdeletion on Xq27.1 in a chinese VACTERL-Like Family with Kidney and Anal Anomalies

Biomedical and Environmental Sciences 2024年第5期37卷 503-510页

作者： LI Min ZHANG Yu Lan ZHANG Kai Li LI Ping Ping LYU Yu Han LIANG Ya Xin YU Yue Department of Gynecology and Obstetrics Beijing HospitalNational Center of GerontologyInstitute of Geriatric MedicineChinese Academy of Medical SciencesBeijing 100730China chinese Academy of Medical Sciences and Peking Union Medical College Beijing HospitalBeijing 100730China The Key Laboratory of Geriatrics Beijing Institute of GeriatricsBeijing HospitalNational Center of GerontologyInstitute of Geriatric MedicineChinese Academy of Medical SciencesBeijing 100730China

Objective VATER/VACTERL-like association is associated with adverse pregnancy *** evidence of this disorder is *** this study,we aimed to provide genetic insights to improve the diagnosis of *** We have described a chinese family in which four members were affected by renal defects or agenesis,anal atresia,and anovaginal fistula,which is consistent with the diagnosis of a VACTERL-like *** and genetic analyses were conducted using genome and exome *** Segregation analysis revealed the presence of a recessive X-linked microdeletion in two living affected individuals,harboring a 196–380 kb microdeletion on Xq27.1,which was identified by familial exome *** sequencing was performed on the affected male,confirming a-196 kb microdeletion in Xq27.1,which included a 28%loss of the CDR-1 *** family members were included in the co-segregation analysis,and only VACTERL-like cases with microdeletions were reported in *** These results suggest that the 196–380 kb microdeletion in Xq27.1 could be a possible cause of the VATER/VACTERL-like ***,further genetic and functional analyses are required to confirm or rule out genetic background as the definitive cause of the VACTERL association.

关键词： Prenatal diagnosis VACTERL whole-genome sequencing whole-exome sequencing X-linked

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Association of ABCB1 gene polymorphisms rs1128503, rs2032582, rs4148738 with anemia in patients receiving dabigatran after total knee arthroplasty

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chinese Journal of Traumatology 2024年第1期27卷 27-33页

作者： Alina Kasimova Dmitry Labutin Anton Gvozdetsky Svetlana Bozhkova Division of Wound Infection Prevention and Treatment Vreden National Medical Research Center of Traumatology and OrthopaedicsSt.PetersburgRussian Federation Department of Clinical Pharmacology and evidence-based medicine Pavlov First Saint Petersburg State Medical UniversitySt.PetersburgRussian Federation Department of Psychiatry and Addictology North-Western State Medical University named after I.I.MechnikovSt.PetersburgRussian Federation

Purpose:Dabigatran is usually prescribed in recommended doses without monitoring of the blood coagulation for the prevention of venous thromboembolism after joint ***1 is a key gene in the metabolism of dabigatran *** allele variants are likely to play a pivotal role in the occurrence of hemorrhagic ***:The prospective study included 127 patients with primary knee osteoarthritis undergoing total knee *** with anemia and coagulation disorders,elevated transaminase and creatinine levels as well as already receiving anticoagulant and antiplatelet therapy were excluded from the *** association of ABCB1 gene polymorphisms rs1128503,rs2032582,rs4148738 with anemia as the outcome of dabigatran therapy was evaluated by single-nucleotide polymorphism analysis with a realtime polymerase chain reaction assay and laboratory blood *** beta regression model was used to predict the effect of polymorphisms on the studied laboratory *** probability of the type 1 error(p)was less than 0.05 was considered statistically *** was used to correct for significance levels in multiple hypothesis *** calculations were performed using Rprogramming language ***:For all polymorphisms there was no association with the level of platelets,protein,creatinine,alanine transaminase,prothrombin,international normalized ratio,activated partial thromboplastin time and *** of rs1128503(TT)had a significant decrease of hematocrit(p=0.001),red blood count and hemoglobin(p=0.015)while receiving dabigatran therapy during the postoperative period compared to the CC,*** of rs2032582(TT)had a significant decrease of hematocrit(p=0.001),red blood count and hemoglobin(p=0.006)while receiving dabigatran therapy during the postoperative period compared to the GG,GT *** differences were not observed in carriers of ***:It might be necessary to r

关键词： Thromboprophylaxis P-glycoprotein Dabigatran Anemia SNPs

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Treatment patterns and survival outcomes in patients with nonmetastatic early-onset pancreatic cancer

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World Journal of Gastroenterology 2024年第12期30卷 1739-1750页

作者： Le-Tian Zhang Ying Zhang Bi-Yang Cao Chen-Chen Wu Jing Wang Graduate School Chinese PLA Medical SchoolBeijing 100853China Department of Radiation Oncology First Medical Center of Chinese PLA General HospitalBeijing 100853China Department of Internal medicine Hospital of University of Science and Technology BeijingBeijing 100083China Department of Medical Oncology National Cancer Center/National Clinical Research Center for Cancer/Cancer HospitalChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijing 100021China

BACKGROUND The incidence of patients with early-onset pancreatic cancer(EOPC;age≤50 years at diagnosis)is on the rise,placing a heavy burden on individuals,families,and *** role of combination therapy including surgery,radiotherapy,and chemotherapy in non-metastatic EOPC is not *** To investigate the treatment patterns and survival outcomes in patients with non-metastatic *** A total of 277 patients with non-metastatic EOPC who were treated at our institution between 2017 and 2021 were investigated *** survival(OS),disease-free survival,and progression-free survival were estimated using the Kaplan-Meier *** and multivariate analyses with the Cox proportional hazards model were used to identify prognostic *** With a median follow-up time of 34.6 months,the 1-year,2-year,and 3-year OS rates for the entire cohort were 84.3%,51.5%,and 27.6%,*** median OS of patients with localized disease who received surgery alone and adjuvant therapy(AT)were 21.2 months and 28.8 months,respectively(P=0.007).The median OS of patients with locally advanced disease who received radiotherapy-based combination therapy(RCT),surgery after neoadjuvant therapy(NAT),and chemotherapy were 28.5 months,25.6 months,and 14.0 months,respectively(P=0.002).The median OS after regional recurrence were 16.0 months,13.4 months,and 8.9 months in the RCT,chemotherapy,and supportive therapy groups,respectively(P=0.035).Multivariate analysis demonstrated that carbohydrate antigen 19-9 level,pathological grade,T-stage,N-stage,and resection were independent prognostic factors for non-metastatic *** AT improves postoperative survival in localized *** after NAT and RCT are the preferred therapeutic options for patients with locally advanced EOPC.

关键词： Pancreatic cancer Early-onset Non-metastatic Multimodal treatment Radiotherapy Overall survival

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Evaluating the Compatibility Mechanism of Shengxian Decoction based on an Excretion Study of 18 Bioactive Constituents in Rat Biosamples

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World Journal of Traditional chinese medicine 2024年第1期10卷 40-52页

作者： Tao Pang Nan Weng Yong Chen Cui-Yun Huang Mei Sun Feng Zhang Wan-Sheng Chen Department of Pharmacy Changzheng HospitalNaval Medical University(Second Military Medical University)ShanghaiChina Department of Pharmacognosy Shenyang Pharmaceutical University ShenyangLiaoning ProvinceChina Traditional chinese medicine Resource and Technology center Shanghai University of Traditional Chinese MedicineShanghaiChina

Introduction:The Shengxian decoction(SXT),a chinese herbal medication used to treat heart failure,is composed of Astragali Radix,Anemarrhenae Rhizoma,Bupleuri Radix,Cimicifuage Rhizoma,and Platycodonis *** of the excretion of the active compounds in this herbal medication is vital for investigating the underlying mechanisms behind its ***,this remains ***:Liquid chromatography coupled with mass spectrometry was performed in both positive and negative modes to assay 18 constituents of SXT from rat urinary,fecal,and biliary ***:The methodology was validated and showed good linearity(r≥0.9),precision,stability,repeatability,and *** relative standard deviations and relative errors for the precision and accuracy did not exceed 15%.The recoveries of all the compounds ranged from 77.37%to 114.82%,and the matrix effect was between 82.53%and 105.71%.The results suggested that,when combined with Platycodonis Radix,the levels of 14 constituents from the four herbs were reduced in the urine,while the levels of six constituents were reduced in the ***:The comparative excretion results indicated that Platycodonis Radix reduced the excretion of compounds in SXT,demonstrating the compatibility mechanism and holistic properties of these compounds,favoring the pharmacological effects of SXT.

关键词： Compatibility excretion liquid chromatography coupled with mass spectrometry Platycodonis Radix Shengxian decoction

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Will partial splenic embolization followed by splenectomy increase intraoperative bleeding?

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World Journal of Gastrointestinal Surgery 2024年第2期16卷 318-330页

作者： Long Huang Qing-Lin Li Qing-Sheng Yu Hui Peng Zhou Zhen Yi Shen Qi Zhang Department of No.1 Surgery The First Hospital Affiliated to Anhui University of Traditional Chinese MedicineHefei 230031Anhui ProvinceChina Anhui University of Traditional chinese medicine Anhui University of Traditional Chinese MedicineHefei 230038Anhui ProvinceChina Department of Surgery The Second Hospital Affiliated to Anhui University of Traditional Chinese MedicineHefei 230061Anhui ProvinceChina

BACKGROUND Partial splenic embolization(PSE)has been suggested as an alternative to splenectomy in the treatment of ***,some patients may experience recurrence of hypersplenism after PSE and require ***,there is a lack of evidence-based medical support regarding whether preoperative PSE followed by splenectomy can reduce the incidence of *** To investigate the safety and therapeutic efficacy of preoperative PSE followed by splenectomy in patients with cirrhosis and *** Between January 2010 and December 2021,321 consecutive patients with cirrhosis and hypersplenism underwent splenectomy at our *** on whether PSE was performed prior to splenectomy,the patients were divided into two groups:PSE group(n=40)and non-PSE group(n=281).Patient characteristics,postoperative complications,and follow-up data were compared between *** score matching(PSM)was conducted,and univariable and multivariable analyses were used to establish a nomogram predictive model for intraoperative bleeding(IB).The receiver operating characteristic curve,Hosmer-Lemeshow goodness-of-fit test,and decision curve analysis(DCA)were employed to evaluate the differentiation,calibration,and clinical performance of the *** After PSM,the non-PSE group showed significant reductions in hospital stay,intraoperative blood loss,and operation time(all P=0.00).Multivariate analysis revealed that spleen length,portal vein diameter,splenic vein diameter,and history of PSE were independent predictive factors for IB.A nomogram predictive model of IB was constructed,and DCA demonstrated the clinical utility of this *** groups exhibited similar results in terms of overall survival during the follow-up *** Preoperative PSE followed by splenectomy may increase the incidence of IB and a nomogram-based prediction model can predict the occurrence of IB.

关键词： Partial splenic embolization Splenectomy Hypertension,Portal Liver Cirrhosis Intraoperative bleeding

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Mitochondrial dysfunction in type 2 diabetes:A neglected path to skeletal muscle atrophy

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World Journal of Orthopedics 2024年第2期15卷 101-104页

作者： Jian-Jun Wu Hui-Min Xian Da-Wei Yang Fan Yang Department of Cardiology The Second Affiliated Hospital of Harbin Medical UniversityHarbin 150001Heilongjiang ProvinceChina Department of Orthopedic Surgery The Fourth Affiliated Hospital of Harbin Medical UniversityHarbin 150001Heilongjiang ProvinceChina State Key Laboratory of Component-based chinese medicine Tianjin University of Traditional Chinese MedicineTianjin 30000China

Over the course of several decades,robust research has firmly established the significance of mitochondrial pathology as a central contributor to the onset of skeletal muscle atrophy in individuals with ***,the specific intricacies governing this process remain *** evidence highlights that individuals with diabetes regularly confront the severe consequences of skeletal muscle *** the sophisticated mechanisms at the core of this pathology requires a thorough and meticulous exploration into the nuanced factors intricately associated with mitochondrial dysfunction.

关键词： Mfn-2 Oxidative stress Mitochondria metabolism Skeletal muscle atrophy Diabetes

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Identification of fangchinoline as a broad-spectrum enterovirus inhibitor through reporter virus based high-content screening

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Virologica Sinica 2024年第2期39卷 301-308页

作者： Qiu-Yan Zhang Jia-Qi Li Qi Li Yang Zhang Zhe-Rui Zhang Xiao-Dan Li Hong-Qing Zhang Cheng-Lin Deng Feng-Xia Yang Yi Xu Bo Zhang The Joint center of Translational Precision medicine Department of Infections and DiseasesGuangzhou Institute of PediatricsGuangzhou Women and Children's Medical CenterGuangzhou510623China Key Laboratory of Special Pathogens and Biosafety Wuhan Institute of VirologyCenter for Biosafety Mega-ScienceChinese Academy of SciencesWuhan430071China University of Science and Technology of China Department of Life Sciences and MedicineHefei230026China Hunan Normal University School of MedicineChangsha410081China

Hand,foot,and mouth disease(HFMD)is a common pediatric illness mainly caused by enteroviruses,which are important human ***,there are no available antiviral agents for the therapy of enterovirus *** this study,an excellent high-content antiviral screening system utilizing the EV-A71-eGFP reporter virus was *** this screening system,we screened a drug library containing 1042 natural compounds to identify potential EV-A71 ***(FAN),a bis-benzylisoquinoline alkaloid,exhibits potential inhibitory effects against various enteroviruses that cause HFMD,such as EV-A71,CV-A10,CV-B3 and *** investigations revealed that FAN targets the early stage of the enterovirus life *** the selection of FAN-resistant EV-A71 viruses,we demonstrated that the VP1 protein could be a potential target of FAN,as two mutations in VP1(E145G and V258I)resulted in viral resistance to *** research suggests that FAN is an efficient inhibitor of EV-A71 and has the potential to be a broad-spectrum antiviral drug against human enteroviruses.

关键词： Hand,foot,and mouth disease(HFMD) Enterovirus EV-A71 High-content screening Fangchinoline(FAN)

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Gut microbiome-based thiamine metabolism contributes to the protective effect of one acidic polysaccharide from Selaginella uncinata(Desv.)Spring against inflammatory bowel disease

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Journal of Pharmaceutical Analysis 2024年第2期14卷 177-195页

作者： Haochen Hui Zhuoya Wang Xuerong Zhao Lina Xu Lianhong Yin Feifei Wang Liping Qu Jinyong Peng Department of Pharmaceutical Analysis College of PharmacyDalian Medical UniversityDalianLiaoning116044China Innovation Materials Research and Development center Botanee Research InstituteYunnan Botanee Bio-technology Group Co.Ltd.Kunming650106China Department of Traditional chinese medicine Pharmacology School of PharmacyAnhui University of Chinese MedicineHefei230012China

Inflammatory bowel disease(IBD)is a serious disorder,and exploration of active compounds to treat it is *** acidic polysaccharide named SUSP-4 was purified from Selaginella uncinata(Desv.)Spring,which contained galacturonic acid,galactose,xylose,arabinose,and rhamnose with the main chain structure of→4)-α-d-GalAp-(1→and→6)-β-d-Galp-(1→and the branched structure of→5)-α-l-Araf-(1→.Animal experiments showed that compared with Model group,SUSP-4 significantly improved body weight status,disease activity index(DAI),colonic shortening,and histopathological damage,and elevated occludin and zonula occludens protein 1(ZO-1)expression in mice induced by dextran sulfate sodium salt(DSS).16S ribosomal RNA(rRNA)sequencing indicated that SUSP-4 markedly downregulated the level of Akkermansia and *** results confirmed that SUSP-4 obviously elevated thiamine levels compared with Model mice by adjusting thiamine metabolism,which was further confirmed by a targeted metabolism *** transplantation experiments showed that SUSP-4 exerted an anti-IBD effect by altering the intestinal flora in mice.A mechanistic study showed that SUSP-4 markedly inhibited macrophage activation by decreasing the levels of phospho-nuclear factor kappa-B(p-NF-κB)and cyclooxygenase-2(COX-2)and elevating NF-E2-related factor 2(Nrf2)levels compared with Model *** conclusion,SUSP-4 affected thiamine metabolism by regulating Akkermania and inhibited macrophage activation to adjust NF-κB/Nrf2/COX-2-mediated inflammation and oxidative stress against *** is the first time that plant polysaccharides have been shown to affect thiamine metabolism against IBD,showing great potential for in-depth research and development applications.

关键词： Gut microbiota Inflammatory bowel disease Polysaccharide Selaginella uncinata(Desv.)Spring Thiamine metabolism

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Chiral Phenol-2NO Ligand Cooperation with Achiral Organic Base in the Zn(II)-Catalyzed Asymmetric Alkylation Reaction of Indoles

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chinese Journal of Chemistry 2024年第13期42卷 1474-1480页

作者： Ke-Lan Xu Yu-Heng Wang Xi-Rui Wang Pan Hu Bo-Wen Pan Wen-Jing Zhang Zi-Yue Chen Ying Zhou Xiong-Li Liu National&Local Joint Engineering Research center for the Exploitation of Homology Resources of Southwest medicine and Food Guizhou UniversityGuiyangGuizhou 550025China College of Pharmaceutical Sciences Guizhou University of Traditional Chinese MedicineGuiyangGuizhou 550025China Green Catalysis center and College of ChemistryZhengzhou UniversityZhengzhouHenan 450001China

The privileged C_(2)-symmetric rigid phenol-type ligand is more attractive but challenging in asymmetric ***,we designed and synthesized a class of rigid-featured chiral tridentate Phenol-2NO ligands,that incorporate the advantages of both the phenol skeleton and pyrroloimidazolone-based N-oxide moiety,from readily available L-prolinamides in operationally simple two steps and up to 44%overall *** importantly,using an achiral quinoline derivative as an additive,the newly developed Phenol-2NO ligand could serve as the anioic ligand upon deprotonative activation to coordinate to Zn(II)to form a highly enantioselective catalyst for the asymmetric Michael-type Friedel-Crafts alkylation reaction of indoles with 2,*** yields(up to 90%)and high enantioselectivities(up to 99%ee)are obtained for a wide range of substrates under mild *** and DFT calculations revealed the reaction mechanism and the origins of the *** also represented the first activation of phenol-type ligand/metal complex by an achiral organic base as the additive in asymmetric catalysis.

关键词： Phenol-2NO C_(2)-Symmetric Rigid-featured Tridentate ligand Asymmetric catalysis Alkylation Synthesis design Heterocycles

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A machine learning model for diagnosing acute pulmonary embolism and comparison with Wells score,revised Geneva score,and Years algorithm

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chinese Medical Journal 2024年第6期137卷 676-682页

作者： Linfeng Xi Han Kang Mei Deng Wenqing Xu Feiya Xu Qian Gao Wanmu Xie Rongguo Zhang Min Liu Zhenguo Zhai Chen Wang Capital Medical University Beijing 100069China National center for Respiratory medicine State Key Laboratory of Respiratory Health and MultimorbidityNational Clinical Research Center for Respiratory DiseasesInstitute of Respiratory MedicineChinese Academy of Medical SciencesDepartment of Pulmonary and Critical Care MedicineCenter of Respiratory MedicineChina-Japan Friendship HospitalBeijing 100029China Institute of Advanced Research Infervision Medical Technology Co.Ltd.Beijing 100025China Department of Radiology China-Japan Friendship HospitalBeijing 100029China chinese Academy of Medical Sciences and Peking Union Medical College Beijing 100730China Department of Radiology Peking University China-Japan Friendship School of Clinical MedicineBeijing 100191China

Background:Acute pulmonary embolism(APE)is a fatal cardiovascular disease,yet missed diagnosis and misdiagnosis often occur due to non-specific symptoms and signs.A simple,objective technique will help clinicians make a quick and precise *** population studies,machine learning(ML)plays a critical role in characterizing cardiovascular risks,predicting outcomes,and identifying *** work sought to develop an ML model for helping APE diagnosis and compare it against current clinical probability assessment ***:This is a single-center retrospective *** with suspected APE were continuously enrolled and randomly divided into two groups including training and testing sets.A total of 8 ML models,including random forest(RF),Naïve Bayes,decision tree,K-nearest neighbors,logistic regression,multi-layer perceptron,support vector machine,and gradient boosting decision tree were developed based on the training set to diagnose ***,the model with the best diagnostic performance was selected and evaluated against the current clinical assessment strategies,including the Wells score,revised Geneva score,and Years ***,the ML model was internally validated to assess the diagnostic performance using receiver operating characteristic(ROC)***:The ML models were constructed using eight clinical features,including D-dimer,cardiac troponin T(cTNT),arterial oxygen saturation,heart rate,chest pain,lower limb pain,hemoptysis,and chronic heart *** eight ML models,the RF model achieved the best performance with the highest area under the curve(AUC)(AUC=0.774).Compared to the current clinical assessment strategies,the RF model outperformed the Wells score(P=0.030)and was not inferior to any other clinical probability assessment *** AUC of the RF model for diagnosing APE onset in internal validation set was ***:based on RF algorithm,a novel prediction model was finally constructed for AP

关键词： Acute pulmonary embolism Machine learning Wells score Revised Geneva score Years algorithm

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