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Detection and analysis of common pathogenic germline mutations in Peutz-Jeghers syndrome

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World Journal of Gastroenterology 2021年第39期27卷 6631-6646页

作者： Guo-Li Gu Zhi Zhang yu-Hui Zhang peng-fei yu Zhi-Wei Dong Hai-Rui Yang Ying yuan Department of General Surgery Air Force Medical CenterChinese People's Liberation ArmyBeijing 100142China Graduate School Hebei North UniversityZhangjiakou 075000Hebei ProvinceChina Department of Medical Oncology Cancer InstituteThe Second Affiliated HospitalZhejiang University School of MedicineHangzhou 310009Zhejiang ProvinceChina

Different types of pathogenic mutations may produce different clinical phenotypes,but a correlation between Peutz-Jeghers syndrome(PJS)genotype and clinical phenotype has not been found.Not all patients with PJS have detectable mutations of the STK11/LKB1 gene,what is the genetic basis of clinical phenotypic heterogeneity of PJS?Do PJS cases without STK11/LKB1 mutations have other pathogenic genes?Those are clinical problems that perplex doctors.AIM The aim was to investigate the specific gene mutation of PJS,and the correlation between the genotype and clinical phenotype of PJS.METHODS A total of 24 patients with PJS admitted to the Air Force Medical Center,PLA(formerly the Air Force General Hospital,PLA)from November 1994 to January 2020 were randomly selected for inclusion in the study.One hundred thirty-nine common hereditary tumor-related genes including STK11/LKB1 were screened and analyzed for pathogenic germline mutations by high-throughput nextgeneration sequencing(NGS).The mutation status of the genes and their relationship with clinical phenotypes of PJS were explored.RESULTS Twenty of the 24 PJS patients in this group(83.3%)had STK11/LKB1 gene mutations,90%of which were pathogenic mutations,and ten had new mutation sites.Pathogenic mutations in exon 7 of STK11/LKB1 gene were significantly lower than in other exons.Truncation mutations are more common in exons 1 and 4 of STK11/LKB1,and their pathogenicity was significantly higher than that of missense mutations.We also found SLX4 gene mutations in PJS patients.CONCLUSION PJS has a relatively complicated genetic background.Changes in the sites responsible for coding functional proteins in exon 1 and exon 4 of STK11/LKB1 may be one of the main causes of PJS.Mutation of the SLX4 gene may be a cause of genetic heterogeneity in PJS.

关键词： Peutz-Jeghers syndrome Genotype Phenotype STK11 Mutation

Study on the thixotropy and structural recovery characteristics of waxy crude oil emulsion

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Petroleum Science 2021年第4期18卷 1195-1202页

作者： Li-Ping Guo Xue Han yun Lei Lei Wang peng-fei yu Shuang Shia Key Laboratory of Enhanced Oil Recovery Ministry of EducationNortheast Petroleum UniversityHeilongjiang163000China Jiangsu Key Laboratory of Oil and Gas Storage&Transportation Technology Changzhou UniversityJiangsu213164China Exploration and Development Research Institute Daqing Oil Field Company LtdDaqingHeilongjiang163712China

Waxy crude oil emulsion has thixotropic properties at the temperature near gel point,which is a macromechanical characterization of the structure failure and recovery of waxy crude oil emulsion.In this paper,the thixotropic behaviors of waxy crude oil emulsion near gel point were studied using hysteresis loop formed by stress linear increase and decrease,as well as the structural recovery characteristics.The influence of the loading conditions and water content on the thixotropy of waxy crude oil emulsion were analyzed with hysteresis loop area.The concept of"structural recovery"was introduced to study the degree of structural recovery after different stewing,and influencing factors were taken into account.Results have shown that for waxy crude oil emulsion,the failure to fully restore of the structure after lysis is the cause of the formation of hysteresis loop,and the loading conditions will not affect the strength of thixotropy and the degree of structural recovery.Additionally,the dispersed phase droplets weaken the thixotropy and structure recovery characteristics of waxy crude oil emulsion,and the greater the water content,the weaker the thixotropy.The findings can help to better understand the safe and economic operation of waxy crude oil-water pipeline transportation.

关键词： Waxy crude oil Emulsion Thixotropic properties Structural recovery Hysteresis loop

Idiopathic abdominal cocoon syndrome with unilateral abdominal cryptorchidism and greater omentum hypoplasia in a young case of small bowel obstruction

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World Journal of Gastroenterology 2016年第20期22卷 4958-4962页

作者： Xiang fei Hai-Rui Yang peng-fei yu Hai-Bo Sheng Guo-Li Gu Department of General Surgery the Air Force General Hospital Chinese PLA Department of Urinary Surgery the Air Force General Hospital Chinese PLA

Abdominal cocoon syndrome(ACS) is a rare cause of intestinal obstruction due to total or partial encapsulation of the small intestine by a fibrocollagenous membrane. Idiopathic ACS with abdominal cryptorchidism and greater omentum hypoplasia is even rarer clinically. We successfully treated a 26-year-old male case of small bowel obstruction with acute peritonitis. He was finally diagnosed with idiopathic ACS with unilateral abdominal cryptorchidism and greater omentum hypoplasia during exploratory laparotomy. He then underwent enterolysis, cryptorchidectomy, and appendectomy. He recovered gradually from the operations and early postoperative inflammatory ileus. There has been no recurrence of intestinal obstruction since the operation, and he is still in follow-up. We analyzed his clinical data and retrospectively reviewed the literature, and our findings may be helpful for the clinical diagnosis and treatment on ACS.

关键词： Abdominal cocoon syndrome Abdominal cryptorchidism Intestinal obstruction Diagnosis Treatment

Clinical Course and Outcome Patterns of Acute-on-chronic Liver Failure:A Multicenter Retrospective Cohort Study

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Journal of Clinical and Translational Hepatology 2021年第5期9卷 626-634页

作者： Man-Man Xu Ming Kong peng-fei yu Ying-Ying Cao Fang Liu Bing Zhu Yi-Zhi Zhang Wang Lu Huai-Bin Zou Bin-Wei Duan Shao-Li You Shao-Jie Xin Tao Han Zhong-Ping Duan yu Chen Fourth Department of Liver Disease(Difficult&Complicated Liver Diseases and Artificial Liver Center) Beijing You’an Hospital Affiliated to Capital Medical UniversityBeijingChina Beijing Municipal Key Laboratory of Liver Failure and Artificial Liver Treatment Research BeijingChina Department of Hepatology The Third Central Clinical College of Tianjin Medical UniversityTianjinChina Liver Failure Treatment and Research Center The Fifth Medical Center of Chinese PLA General HospitalBeijingChina Department of General Surgery Beijing You’an Hospital Affiliated to Capital Medical UniversityBeijingChina

Background and Aims:Acute-on-chronic liver failure(ACLF)is acute decompensation of liver function in the setting of chronic liver disease,and characterized by high short-term mortality.In this study,we sought to investigate the clinical course of patients at specific time points,and to propose dynamic prognostic criteria.Methods:We assessed the clinical course of 453 patients with ACLF during a 12-week follow-up period in this retrospective multicenter study.The clinical course of patients was defined as disease recovery,improvement,worsening or steady patterns based on the variation tendency in prothrombin activity(PTA)and total bilirubin(TB)at different time points.Results:Resolution of PTA was observed in 231 patients(51%)at 12 weeks after the diagnosis of ACLF.Among the remaining patients,66(14.6%)showed improvement and 156(34.4%)showed a steady or worsening course.In patients with resolved PTA,the clinical course of TB exhibited resolved pattern in 95.2%,improved in 3.9%,and steady or worse in 0.8%.Correspondingly,in patients with improved PTA,these values for TB were 28.8%,27.3%,and 43.9%,respectively.In patients with steady or worsening PTA,these values for TB were 5.7%,32.3%,and 65.6%,respectively.Dynamic prognostic criteria were developed by combining the clinical course of PTA/TB and the clinical outcomes at 4 and 12 weeks after diagnosis in ACLF patients.Conclusions:We propose the following dynamic prognostic criteria:rapid progression,slow progression,rapid recovery,slow recovery,and slow persistence,which lay the foundation for precise prediction of prognosis and the improvement of ACLF therapy.

关键词： Acute-on-chronic liver failure Clinical course Outcome patterns Retrospective cohort study

Predictive value of preoperative routine examination for the prognosis of patients with pT2N0M0 or pT3N0M0 colorectal cancer

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World Journal of Gastrointestinal Oncology 2024年第6期16卷 2429-2438页

作者： peng-fei Jing Jin Chen En-Da yu Chao-yu Miao Department of Colorectal Surgery Changhai HospitalSecond Military Medical University/Naval Medical UniversityShanghai 200433China Department of Endocrinology and Metabolism Changhai HospitalSecond Military Medical University/Naval Medical UniversityShanghai 200433China Department of Pharmacology Second Military Medical University/Naval Medical UniversityShanghai 200433China

BACKGROUND In recent years,the incidence of colorectal cancer(CRC)has been increasing.With the popularization of endoscopic technology,a number of early CRC has been diagnosed.However,despite current treatment methods,some patients with early CRC still experience postoperative recurrence and metastasis.AIM To search for indicators associated with early CRC recurrence and metastasis to identify high-risk populations.METHODS A total of 513 patients with pT2N0M0 or pT3N0M0 CRC were retrospectively enrolled in this study.Results of blood routine test,liver and kidney function tests and tumor markers were collected before surgery.Patients were followed up through disease-specific database and telephone interviews.Tumor recurrence,metastasis or death were used as the end point of study to find the risk factors and predictive value related to early CRC recurrence and metastasis.RESULTS We comprehensively compared the predictive value of preoperative blood routine,blood biochemistry and tumor markers for disease-free survival(DFS)and overall survival(OS)of CRC.Cox multivariate analysis demonstrated that low platelet count was significantly associated with poor DFS[hazard ratio(HR)=0.995,95% confidence interval(CI):0.991-0.999,P=0.015],while serum carcinoembryonic antigen(CEA)level(HR=1.008,95%CI:1.001-1.016,P=0.027)and serum total cholesterol level(HR=1.538,95%CI:1.026-2.305,P=0.037)were independent risk factors for OS.The cutoff value of serum CEA level for predicting OS was 2.74 ng/mL.Although the OS of CRC patients with serum CEA higher than the cutoff value was worse than those with lower CEA level,the difference between the two groups was not statistically significant(P=0.075).CONCLUSION For patients with T2N0M0 or T3N0M0 CRC,preoperative platelet count was a protective factor for DFS,while serum CEA level was an independent risk factor for OS.Given that these measures are easier to detect and more acceptable to patients,they may have broader applications.

关键词： Colorectal cancer Platelet count Serum carcinoembryonic antigen Total cholesterol level Overall survival Disease-free survival

Staging liver fibrosis with various diffusion-weighted magnetic resonance imaging models

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World Journal of Gastroenterology 2024年第9期30卷 1164-1176页

作者： Yan-Li Jiang Juan Li peng-fei Zhang Feng-Xian Fan Jie Zou Pin Yang peng-fei Wang Shao-yu Wang Jing Zhang Department of Magnetic Resonance Imaging The Second Hospital&Clinical Medical SchoolLanzhou UniversityLanzhou 730030Gansu ProvinceChina Second Clinical School Lanzhou UniversityLanzhou 730030Gansu ProvinceChina Gansu Province Clinical Research Center for Functional and Molecular Imaging The Second Hospital&Clinical Medical SchoolLanzhou UniversityLanzhou 730030Gansu ProvinceChina Department of Hepatology The Second Hospital&Clinical Medical SchoolLanzhou UniversityLanzhou 730030Gansu ProvinceChina MR Scientific Marketing Siemens HealthineersXi’an 710065Shaanxi ProvinceChina

BACKGROUND Diffusion-weighted imaging(DWI)has been developed to stage liver fibrosis.However,its diagnostic performance is inconsistent among studies.Therefore,it is worth studying the diagnostic value of various diffusion models for liver fibrosis in one cohort.AIM To evaluate the clinical potential of six diffusion-weighted models in liver fibrosis staging and compare their diagnostic performances.METHODS This prospective study enrolled 59 patients suspected of liver disease and scheduled for liver biopsy and 17 healthy participants.All participants underwent multi-b value DWI.The main DWI-derived parameters included Mono-apparent diffusion coefficient(ADC)from mono-exponential DWI,intravoxel incoherent motion model-derived true diffusion coefficient(IVIM-D),diffusion kurtosis imaging-derived apparent diffusivity(DKI-MD),stretched exponential model-derived distributed diffusion coefficient(SEM-DDC),fractional order calculus(FROC)model-derived diffusion coefficient(FROC-D)and FROC model-derived microstructural quantity(FROC-μ),and continuous-time random-walk(CTRW)model-derived anomalous diffusion coefficient(CTRW-D)and CTRW model-derived temporal diffusion heterogeneity index(CTRW-α).The correlations between DWI-derived parameters and fibrosis stages and the parameters’diagnostic efficacy in detecting significant fibrosis(SF)were assessed and compared.RESULTS CTRW-D(r=-0.356),CTRW-α(r=-0.297),DKI-MD(r=-0.297),FROC-D(r=-0.350),FROC-μ(r=-0.321),IVIM-D(r=-0.251),Mono-ADC(r=-0.362),and SEM-DDC(r=-0.263)were significantly correlated with fibrosis stages.The areas under the ROC curves(AUCs)of the combined index of the six models for distinguishing SF(0.697-0.747)were higher than each of the parameters alone(0.524-0.719).The DWI models’ability to detect SF was similar.The combined index of CTRW model parameters had the highest AUC(0.747).CONCLUSION The DWI models were similarly valuable in distinguishing SF in patients with liver disease.The combined index of CTRW parameters had the highest AUC.

关键词： Liver fibrosis Magnetic resonance imaging Diffusion-weighted magnetic resonance Liver biopsy Significant fibrosis

Fast charge transfer kinetics in Sv-ZnIn_(2)S_(4)/Sb_(2)S_(3)S-scheme heterojunction photocatalyst for enhanced photocatalytic hydrogen evolution

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Rare Metals 2024年第2期43卷 533-542页

作者： Wei Li Jia-Jun Li Zhi-fei Liu Hong-yu Ma peng-fei Fang Rui Xiong Jian-Hong Wei Key Laboratory of Artificial Micro-and Nano-Structures of Ministry of Education School of Physics and TechnologyWuhan UniversityWuhan430072China

Constructing a S-scheme heterojunction with tight interface contact and fast charge transfer is beneficial to improving the photocatalytic hydrogen evolution performance.Herein,a unique one-dimensional(1D)/two-dimensional(2D)S-scheme heterojunction containing 1D Sb_(2)S_(3) nanorods and 2D ZnIn_(2)S_(4) with affluent sulfur vacancies(denoted as Sv-ZnIn_(2)S_(4)@Sb_(2)S_(3)) was designed.The introduced sulfur vacancy can promote the effective adsorption of H+for the following interfacial hydrogen-evolution reaction.Furthermore,the larger contact area and stronger electron interaction between Sb_(2)S_(3) and ZnIn_(2)S_(4) effectively inhibits the recombination of photo-generated electron–hole pairs and abridges the migration distance of charges.As a result,the optimal Sv-ZnIn_(2)S_(4)@Sb_(2)S_(3) sample achieves H_(2) evolution activity of 2741.3 mol·h^(−1)·g^(−1),which is 8.6 times that of pristine ZnIn_(2)S_(4) and 3.0 times that of the Sv-ZnIn_(2)S_(4) samples.Based on the experimental result,the photo-reactivity S-scheme mechanism of hydrogen evolution from water splitting with Sv-ZnIn_(2)S_(4)@Sb_(2)S_(3) is proposed.This work provides an effective method for developing S-scheme heterojunction composites of transition metal sulfide with high hydrogen evolution performance.

关键词： ZnIn_(2)S_(4) nanosheets S-scheme heterojunction Sulfur vacancy Charge transfer and separation Photocatalytic H_(2)evolution

Comparison of clinical features and outcomes of proliferative,fibrotic,and mixed subtypes of IgG4-related disease:A retrospective cohort study

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Chinese Medical Journal 2024年第3期137卷 303-311页

作者： Linyi peng Xinlu Zhang Jiaxin Zhou Jieqiong Li Zheng Liu Hui Lu yu peng yunyun fei Yan Zhao Xiaofeng Zeng Wen Zhang Department of Rheumatology and Clinical Immunology Peking Union Medical College HospitalNational Clinical Research Center for Dermatologic and Immunologic DiseasesState Key Laboratory of Complex Severe and Rare DiseasesThe Ministry of Education Key LaboratoryBeijing 100730China Institute of Clinical Medicine Peking Union Medical College Hospital(PUMCH)Chinese Academy of Medical Sciences&Peking Union Medical CollegeBeijing 100730China

Background:Immunoglobulin G4-related disease(IgG4-RD)is a recently recognized immune-mediated disorder that can affect almost any organ in the human body.IgG4-RD can be categorized into proliferative and fibrotic subtypes based on patients’clinicopathological characteristics.This study aimed to compare the clinical manifestations,laboratory findings,and treatment outcomes of IgG4-RD among different subtypes.Methods:We prospectively enrolled 622 patients with newly diagnosed IgG4-RD at Peking Union Medical College Hospital from March 2011 to August 2021.The patients were divided into three groups according to their clinicopathological characteristics:proliferative,fibrotic,and mixed subtypes.We compared demographic features,clinical manifestations,organ involvement,laboratory tests,and treatment agents across three subtypes.We then assessed the differences in treatment outcomes among 448 patients receiving glucocorticoids alone or in combination with immunosuppressants.Moreover,risk factors of relapse were revealed by applying the univariate and multivariate Cox regression analysis.Results:We classified the 622 patients into three groups consisting of 470 proliferative patients,55 fibrotic patients,and 97 mixed patients,respectively.We found that gender distribution,age,disease duration,and frequency of allergy history were significantly different among subgroups.In terms of organ involvement,submandibular and lacrimal glands were frequently involved in the proliferative subtype,while retroperitoneum was the most commonly involved site in both fibrotic subtype and mixed subtype.The comparison of laboratory tests revealed that eosinophils(P=0.010),total IgE(P=0.006),high-sensitivity C-reactive protein(P<0.001),erythrocyte sedimentation rate(P<0.001),complement C4(P<0.001),IgG(P=0.001),IgG1(P<0.001),IgG4(P<0.001),and IgA(P<0.001),at baseline were significantly different among three subtypes.Compared with proliferative and mixed subtypes,the fibrotic subtype showed the lowest rate of relapse(log-rank P=0.014).Conclus

关键词： IgG4-related disease Proliferative subtype Fibrotic subtype Clinical features Treatment outcome

Engineering molecular regulation for SiO_(x) with long-term stable cycle and high Coulombic efficiency as lithium-ion battery anodes

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Rare Metals 2024年第2期43卷 588-598页

作者： fei Wang Han Gao Zhao-yu Niu Yao-peng Zheng Ming-Yan Chuai Jia-Nan Xu State Key Laboratory of Electroanalytical Chemistry Changchun Institute of Applied ChemistryChinese Academy of SciencesChangchun130022China University of Science and Technology of China Hefei230026China

In the current situation where the practical application of silicon anode materials encounters great challenges,silicon oxide(SiO_(x),0≤x≤2)has attracted the attention of researchers due to its relatively small volume expansion,stable cycling performance,and low cost,which is possible to realize commercial applications earlier than silicon anode.However,it remains a challenge to prepare SiO_(x)materials with long-term stable cycling performance and high Coulombic efficiency using low-cost methods.In this work,SiO_(x)anode material with high Coulombic efficiency and good long-term cycling stability was prepared at a low cost by hydrolysis of siloxane and in situ polymerization of phenolic resin.The hydrolysis of siloxane was further regulated by different silane coupling agents to regulate the size and microstructure of prepared SiO_(x)materials,which displayed the substantially improved electrochemical performance.The excellent electrochemical performance of SiO_(x)prepared by regulated hydrolysis of siloxane with silane coupling agents is attributed to the effect of silane coupling agent on size and microstructure of SiO_(x),revealing that the strategy of modulating the hydrolysis of siloxane by silane coupling agent is a potential method to prepare high-performance SiO_(x)materials.

关键词： Hydrolysis Silane coupling agent Long cycle SiO_(x) anode Lithium-ion battery(LIB)