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Detection of Novel BEST1 Variations in Autosomal Recessive Bestrophinopathy Using Third-generation Sequencing

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Current Medical Science 2024年第2期44卷 419-425页

作者： Jia-xun LI Ling-rui MENG Bao-ke HOU Xiao-lu HAO Da-jiang WANG Ling-hui QU Zhao-hui LI Lei ZHANG Xin JIN department of Senior Ophthalmology the Third Medical Center of PLA General HospitalBeijing 100853China department of Ophthalmology the 74th Army Group HospitalGuangzhou 510318China

Objective:Autosomal recessive bestrophinopathy(ARB),a retinal degenerative disease,is characterized by central visual loss,yellowish multifocal diffuse subretinal deposits,and a dramatic decrease in the light peak on *** potential pathogenic mechanism involves mutations in the BEST1 gene,which encodes Ca2+-activated Cl−channels in the retinal pigment epithelium(RPE),resulting in degeneration of RPE and *** this study,the complete clinical characteristics of two Chinese ARB families were ***:Pacific Biosciences(PacBio)single-molecule real-time(SMRT)sequencing was performed on the probands to screen for disease-causing gene mutations,and Sanger sequencing was applied to validate variants in the patients and their family ***:Two novel mutations,c.202T>C(chr11:61722628,p.Y68H)and c.867+97G>A,in the BEST1 gene were identified in the two Chinese ARB *** novel missense mutation BEST1 c.202T>C(p.Y68H)resulted in the substitution of tyrosine with histidine in the N-terminal region of transmembrane domain 2 of *** novel variant,BEST1 c.867+97G>A(chr11:61725867),located in intron 7,might be considered a regulatory variant that changes allele-specific binding affinity based on motifs of important transcriptional ***:Our findings represent the first use of third-generation sequencing(TGS)to identify novel BEST1 mutations in patients with ARB,indicating that TGS can be a more accurate and efficient tool for identifying mutations in specific *** novel variants identified further broaden the mutation spectrum of BEST1 in the Chinese population.

关键词： autosomal recessive bestrophinopathy BEST1 gene third-generation sequencing mutation

Effect of an Airbag-selective Portal Vein Blood Arrester on the Liver after Hepatectomy:A New Technique for Selective Clamping of the Portal Vein

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Current Medical Science 2024年第2期44卷 380-390页

作者： Ce-xiong FU Xiao-ri QIN Jin-song CHEN Jie ZHONG Yu-xu XIE Bi-dan LI Qing-qing FU Fang LI Jin-fang ZHENG department of Hepatobiliary and Pancreatic Surgery Hainan General HospitalHainan Affiliated Hospital of Hainan Medical UniversityHaikou 570311China University of South China Hengyang 421001China department of Gastroenterology Gastroenterology Endoscopy CenterHainan General HospitalHainan Affiliated Hospital of Hainan Medical UniversityHaikou 57031lChina Center of Clinical laboratory Hainan General HospitalHainan Affiliated Hospital of Hainan Medical UniversityHaikou 570311China department of Radiology Hainan General HospitalHainan Affiliated Hospital of Hainan Medical UniversityHaikou 570311China

Objective:A novel technique was explored using an airbag-selective portal vein blood arrester that circumvents the need for an intraoperative assessment of anatomical variations in patients with complex intrahepatic space-occupying ***:Rabbits undergoing hepatectomy were randomly assigned to 4 groups:intermittent portal triad clamping(PTC),intermittent portal vein clamping(PVC),intermittent portal vein blocker with an airbag-selective portal vein blood arrester(APC),and without portal blood occlusion(control).Hepatic ischemia and reperfusion injury were assessed by measuring the 7-day survival rate,blood loss,liver function,hepatic pathology,hepatic inflammatory cytokine infiltration,hepatic malondialdehyde levels,and proliferating cell nuclear antigen ***:Liver damage was substantially reduced in the APC and PVC *** APC animals exhibited transaminase levels similar to or less oxidative stress damage and inflammatory hepatocellular injury compared to those exhibited by the PVC *** was significantly higher in the control group than in the other *** APC group had less bleeding than the PVC group because of the avoidance of portal vein skeletonization during ***,more operative time was saved in the APC group than in the PVC ***,the total 7-day survival rate in the APC group was higher than that in the PTC ***:Airbag-selective portal vein blood arresters may help protect against hepatic ischemia and reperfusion injury in rabbits undergoing partial *** technique may also help prevent liver damage in patients requiring hepatectomy.

关键词： hepatectomy portal vein hepatic damage selective clamping

Efficacy of a Nutritional Cream Intervention to Treat Depression in Rescuers:A Randomized Controlled Trial

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Biomedical and Environmental Sciences 2024年第7期37卷 754-761页

作者： Qiao Wang Hengyu Luan Chunyan Li Rufang Gong Qiongxuan Li Jiayi Deng Xiaoyong Sai department of Statistics and Epidemiology The Graduate School of the Chinese PLA General HospitalBeijing 100853China Comprehensive Internal Medicine Western Medical Branch of PLA General HospitalBeijing 100144China department of Respiratory The First Medical Center of PLA General HospitalBeijing 100853China department of Pharmacy Intravenous Admixture Services(PIVAS) The First Medical Center of PLA General HospitalBeijing 100853China

Objective To explore the effectiveness of a nutritional intervention in rescuers who screened positive for *** A randomized controlled trial design was *** June to August,2022,4,460 rescuers were screened using the Self-Rating Depression Scale(SDS),and 1,615 positive cases were ***-one volunteers were recruited and randomly divided into a nutritional intervention group and a control *** intervention group received health education and nutritional intervention(a compound paste therapy primarily composed of red roses and Seville orange flowers),while the control group received psychological *** scores were assessed before and after the *** There was a statistically significant decline in SDS scores in the nutritional intervention group after the intervention(Pgroup were significantly lower than those of the control group,both before and after the intervention(P<0.05).No severe adverse reactions were observed during safety *** The nutritional intervention effectively reduced the depression scores in *** nutritional intervention is recommended for rescuers who initially screen positive for depression.

关键词： Nutritional intervention Rescuers Depression Randomized controlled trial

Hepatocellular carcinoma:An analysis of the expression status of stress granules and their prognostic value

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World Journal of Gastrointestinal Oncology 2024年第6期16卷 2571-2591页

作者： Qing-Shuai Ren Qiu Sun Shu-Qin Cheng Li-Ming Du Ping-Xuan Guo department of Cardiovascular Surgery North China University of Science and Technology Affiliated HospitalTangshan 063000Hebei ProvinceChina department of Hepatobiliary Kailuan General HospitalTangshan 063000Hebei ProvinceChina department of Gastroenterology and Hepatology Tianjin Medical University General HospitalTianjin Institute of Digestive DiseasesTianjin Key Laboratory of Digestive DiseasesTianjin 300000China department of Traditional Chinese Medicine Kailuan General HospitalTangshan 063000Hebei ProvinceChina department of Anesthesiology Kailuan General HospitalNorth China University of Science and TechnologyTangshan 063000Hebei ProvinceChina

BACKGROUND Hepatocellular carcinoma(HCC)is a global popular malignant tumor,which is difficult to cure,and the current treatment is *** To analyze the impacts of stress granule(SG)genes on overall survival(OS),survival time,and prognosis in *** The combined The Cancer Genome Atlas-Liver Hepatocellular Carcinoma(TCGA-LIHC),GSE25097,and GSE36376 datasets were utilized to obtain genetic and clinical *** hub gene numbers and corresponding coefficients were determined using the Least absolute shrinkage and selection operator model approach,and genes for constructing risk scores and corresponding correlation coefficients were calculated according to multivariate Cox regression,*** prognostic model’s receiver operating characteristic(ROC)curve was produced and plotted utilizing the time ROC software *** models were constructed to predict the outcomes at 1,3,and 5-year OS prognostications with good prediction *** We identified seven SG genes(DDX1,DKC1,BICC1,HNRNPUL1,CNOT6,DYRK3,CCDC124)having a prognostic significance and developed a risk score *** findings of Kaplan-Meier analysis indicated that the group with a high risk exhibited significantly reduced OS in comparison with those of the low-risk group(P<0.001).The nomogram model’s findings indicate a significant enhancement in the accuracy of OS prediction for individuals with HCC in the TCGA-HCC *** Ontology and Gene Set Enrichment Analysis suggested that these SGs might be involved in the cell cycle,RNA editing,and other biological *** Based on the impact of SG genes on HCC prognosis,in the future,it will be used as a biomarker as well as a unique therapeutic target for the identification and treatment of HCC.

关键词： Stress granule genes Hepatocellular carcinoma Gastrointestinal neoplasms Bioinformatics prognosis Prognostic value

Argatroban promotes recovery of spinal cord injury by inhibiting the PAR1/JAK2/STAT3 signaling pathway

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Neural Regeneration Research 2024年第2期19卷 434-439页

作者： Chenxi Zhao Tiangang Zhou Ming Li Jie Liu Xiaoqing Zhao Yilin Pang Xinjie Liu Jiawei Zhang Lei Ma Wenxiang Li Xue Yao Shiqing Feng department of Orthopedics Tianjin Medical University General HospitalTianjinChina International Science and Technology Cooperation Base of Spinal Cord Injury Tianjin Key Laboratory of Spine and Spinal Cord InjuryDepartment of OrthopedicsTianjin Medical University General HospitalTianjinChina Orthopedic Research Center of Shandong University Cheeloo College of MedicineDepartment of OrthopedicsQilu Hospital of Shandong UniversityJinanShandong ProvinceChina

Argatroban is a synthetic thrombin inhibitor approved by *** and Drug Administration for the treatment of ***,whether it plays a role in the repair of spinal cord injury is *** this study,we established a rat model of T10 moderate spinal cord injury using an NYU Impactor ModerⅢand performed intraperitoneal injection of argatroban for 3 consecutive *** results showed that argatroban effectively promoted neurological function recovery after spinal cord injury and decreased thrombin expression and activity in the local injured spinal *** sequencing transcriptomic analysis revealed that the differentially expressed genes in the argatroban-treated group were enriched in the JAK2/STAT3 pathway,which is involved in astrogliosis and glial scar *** blotting and immunofluorescence results showed that argatroban downregulated the expression of the thrombin receptor PAR1 in the injured spinal cord and the JAK2/STAT3 signal *** also inhibited the activation and proliferation of astrocytes and reduced glial scar formation in the spinal *** together,these findings suggest that argatroban may inhibit astrogliosis by inhibiting the thrombin-mediated PAR1/JAK2/STAT3 signal pathway,thereby promoting the recovery of neurological function after spinal cord injury.

关键词： argatroban astrogliosis JAK/STAT signaling pathway protease-activated receptor-1 spinal cord injury thrombin vimentin

Analysis of metabolic characteristics of metabolic syndrome in elderly patients with gastric cancer by non-targeted metabolomics

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World Journal of Gastrointestinal Oncology 2024年第6期16卷 2419-2428页

作者： Huan Zhang Wen-Bing Shen Lin Chen Medical School of Chinese PLA Chinese PLA General HospitalBeijing 100853China department of Gastrointestinal Surgery Shanghai Sixth People’s HospitalShanghai 250063China department of general Surgery The First Medical Center of Chinese PLA General HospitalBeijing 100853China

BACKGROUND The relationship between metabolic syndrome(MetS)and gastric cancer(GC),which is a common metabolic disease,has attracted much ***,the specific metabolic characteristics of MetS in elderly patients with GC remain *** To investigate the differentially abundant metabolites and metabolic pathways between preoperative frailty and MetS in elderly patients with GC based on nontargeted metabolomics *** In this study,125 patients with nonfrail nonmeal GC were selected as the control group,and 50 patients with GC in the frail group were selected as the frail ***-five patients with GC combined with MetS alone were included in the MetS group,and 50 patients with GC combined with MetS were included in the MetS *** metabolomics techniques were used to measure plasma metabolite levels by ultrahigh-performance liquid chromatography-mass *** statistical analysis was performed by principal component analysis,orthogonal partial least squares,pattern recognition analysis,cluster analysis,and metabolic pathway *** A total of 125 different metabolites,including amino acids,glycerophospholipids,sphingolipids,fatty acids,sugars,nucleosides and nucleotides,and acidic compounds,were identified via nontargeted metabolomics *** with those in the control group,there were 41,32,and 52 different metabolites in the MetS group,the debilitated group,and the combined group,*** metabolites were significantly increased in the MetS *** the weak group,amino acids and most glycerol phospholipid metabolites decreased significantly,and fatty acids and sphingosine increased *** combined group was characterized by significantly increased levels of nucleotide metabolites and acidic *** alanine,aspartic acid,and glutamate metabolic pathways were obviously enriched in the asthenic group,and the glycerol and phospholipid metabolic pathways were obv

关键词： Nervous breakdown Metabolic syndrome Elderly individuals Gastric cancer Nontargeted metabolomics

Developing risk models and subtypes of autophagy-associated LncRNAs for enhanced prognostic prediction and precision in therapeutic approaches for liver cancer patients

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Oncology Research 2024年第4期32卷 703-716页

作者： LU ZHANG JINGUO CHU YUSHAN YU department of general Practice The First Affiliated Hospital of Ningbo UniversityNingboChina

Background:Limited research has been conducted on the influence of autophagy-associated long non-coding RNAs(ARLncRNAs)on the prognosis of hepatocellular carcinoma(HCC).Methods:We analyzed 371 HCC samples from TCGA,identifying expression networks of ARLncRNAs using autophagy-related *** for prognostically relevant ARLncRNAs involved univariate Cox regression,Lasso regression,and multivariate Cox regression.A Nomogram was further employed to assess the reliability of Riskscore,calculated from the signatures of screened ARLncRNAs,in predicting ***,we compared drug sensitivities in patient groups with differing risk levels and investigated potential biological pathways through enrichment analysis,using consensus clustering to identify subgroups related to ***:The screening process identified 27 ARLncRNAs,with 13 being associated with HCC ***,a set of signatures comprising 8 ARLncRNAs was successfully constructed as independent prognostic factors for *** in the high-risk group showed very poor prognoses in most clinical *** Riskscore was closely related to immune cell scores,such as macrophages,and the DEGs between different groups were implicated in metabolism,cell cycle,and mitotic ***,high-risk group patients demonstrated a significantly lower IC50 for Paclitaxel,suggesting that Paclitaxel could be an ideal treatment for those at elevated risk for *** further identified C2 as the Paclitaxel subtype,where patients exhibited higher Riskscores,reduced survival rates,and more severe clinical ***:The 8 signatures based on ARLncRNAs present novel targets for prognostic prediction in *** drug candidate Paclitaxel may effectively treat HCC by impacting ARLncRNAs *** the identification of ARLncRNAsrelated isoforms,these results provide valuable insights for clinical exploration of autophagy mechanisms in HCC pathogenesis and offer potential av

关键词： Autophagy Hepatocellular carcinoma(HCC) Prognosis Precision medicine Paclitaxel

Benefits of jejunostomy feeding in patients who underwent gastrectomy for cancer treatment

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World Journal of Gastrointestinal Surgery 2024年第8期16卷 2461-2473页

作者： Romain Jaquet Emmanuel Rivkine Nicole De Souza Jean Roudié department of Digestive and Visceral Surgery Nord Essonne Hospital Group-Longjumeau SiteLongjumeau 91160France department of general and Digestive Surgery Pierre Zobda-Quitman HospitalUniversity Hospital CenterMartiniqueFranceFort de France 97261Martinique

BACKGROUND Gastric cancer is associated with significant undernutrition responsible for an increase in morbidity and mortality after *** To evaluate the impact of enteral nutrition by jejunostomy feeding in patients undergoing gastrectomy for *** Between 2003 and 2017,all patients undergoing gastrectomy for cancer treatment were included retrospectively.A group with jejunostomy(J+group)and a group without jejunostomy(J-group)were *** Of the 172 patients included,60 received ***,the two groups were comparable with respect to the nutritional parameters studied(body mass index,albumin,etc.).In the postoperative period,the J+group lost less weight and albumin:5.74±8.4 vs 9.86±7.5 kg(P=0.07)and 7.2±5.6 vs 14.7±12.7 g/L(P=0.16),*** morbidity was 25%in the J+group and 36.6%in the J-group(P=0.12).The J+group had fewer respiratory,infectious,and grade 3 complications:0%vs 5.4%(P=0.09),1.2%vs 9.3%(P=0.03),and 0%vs 4.7%(P=0.05),*** 30-day mortality was 6.7%in the J+group and 6.3%in the J-group(P=0.91).CONCLUSION Jejunostomy feeding after gastrectomy improves nutritional characteristics and decreases postoperative morbidity.A prospective study could confirm our results.

关键词： Feeding jejunostomy Gastric cancer Undernutrition Morbimortality Survival

Standard-definition White-light,High-definition White-light versus Narrow-band Imaging Endoscopy for Detecting Colorectal Adenomas:A Multicenter Randomized Controlled Trial

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Current Medical Science 2024年第3期44卷 554-560页

作者： Chang-wei DUAN Hui-hong ZHAI Hui XIE Xian-zong MA Dong-liang YU Lang YANG Xin WANG Yu-fen TANG Jie ZHANG Hui SU Jian-qiu SHENG Jun-feng XU Peng JIN Chinese PLA general hospital and Medical School Beijing100853China department of Gastroenterology Xuanwu HospitalCapital Medical UniversityBeijing100053China department of Gastroenterology The Seventh Medical Center of Chinese PLA General HospitalBeijing100700China Senior department of Gastroenterology The First Medical Center of Chinese PLA General HospitalBeijing100853China

Objective This study aimed to compare the performance of standard-definition white-light endoscopy(SD-WL),high-definition white-light endoscopy(HD-WL),and high-definition narrow-band imaging(HD-NBI)in detecting colorectal lesions in the Chinese *** This was a multicenter,single-blind,randomized,controlled trial with a non-inferiority *** undergoing endoscopy for physical examination,screening,and surveillance were enrolled from July 2017 to December *** primary outcome measure was the adenoma detection rate(ADR),defined as the proportion of patients with at least one adenoma *** associated factors for detecting adenomas were assessed using univariate and multivariate logistic *** Out of 653 eligible patients enrolled,data from 596 patients were *** ADRs were 34.5%in the SD-WL group,33.5%in the HD-WL group,and 37.5%in the HD-NBI group(P=0.72).The advanced neoplasm detection rates(ANDRs)in the three arms were 17.1%,15.5%,and 10.4%(P=0.17).No significant differences were found between the SD group and HD group regarding ADR or ANDR(ADR:34.5%vs.35.6%,P=0.79;ANDR:17.1%vs.13.0%,P=0.16,respectively).Similar results were observed between the HD-WL group and HD-NBI group(ADR:33.5%vs.37.7%,P=0.45;ANDR:15.5%vs.10.4%,P=0.18,respectively).In the univariate and multivariate logistic regression analyses,neither HD-WL nor HD-NBI led to a significant difference in overall adenoma detection compared to SD-WL(HD-WL:OR 0.91,P=0.69;HD-NBI:OR 1.15,P=0.80).Conclusion HD-NBI and HD-WL are comparable to SD-WL for overall adenoma detection among Chinese *** can be concluded that HD-NBI or HD-WL is not superior to SD-WL,but more effective instruction may be needed to guide the selection of different endoscopic methods in the *** study’s conclusions may aid in the efficient allocation and utilization of limited colonoscopy resources,especially advanced imaging technologies.

关键词： standard-definition white-light endoscopy high-definition white-light endoscopy narrow-band imaging colonoscopy colorectal cancer screening adenoma detection rate