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Genes & Diseases 2024年第3期11卷 102-105页

作者： Jie Ding Shanshan Mei Kaili Wang wen Cheng Shuai Sun Zhexin ni Xiaoqiu Wang Chaoqin Yu Department of Gynecology of Traditional Chinese Medicine Changhai Hospital Affiliated to Naval Medical UniversityShanghai 200433China Obstetrics and Gynecology Department The First Affiliated Hospital of Zhejiang Chinese Medical UniversityHangzhouZhejiang 310006China Department of Pharmaceutical Sciences Beijing Institute of Radiation MedicineBeijing 100850China Obstetrics and Gynecology Hospital of Fudan University Shanghai 200433China

Endometriosis(EM)is a common disease that affects approximately 10%-15%of women of childbearing age.The pathogenesis of EM is unclear,but studies have shown a strong association between EM and inflammation,as well as oxidative stress.^(1) Pyroptosis is also called inflammatory cell death.When pyroptosis occurs,it activates a strong inflammatory response.Pyroptosis is associated with oxidative stress,and Ros act as intermediate triggers to activate pyroptosi.

关键词： inflammatory death oxidative

Novel MIP gene mutation causes autosomal-dominant congenital cataract

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International Journal of Ophthalmology(English edition) 2024年第3期17卷 454-465页

作者： Jing-Lan ni Hua-Ming wen Xiao-Sheng Huang Qian-wen Li Jia-Min Cai Bao-Jian Fan Jun Zhao The Second Clinical Medical College Jinan UniversityShenzhen 518020Guangdong ProvinceChina Department of Ophthalmology Dongguan Chang’an HospitalDongguan 523843Guangdong ProvinceChina Shenzhen Eye Hospital Affiliated to Jinan University Shenzhen Eye InstituteShenzhen 518040Guangdong ProvinceChina Department of Oral&Maxillofacial Surgery Shenzhen Stomatology Hospital Affiliated to Shenzhen UniversityShenzhen 518040Guangdong ProvinceChina Department of Neurosurgery Massachusetts General Hospital and Harvard Medical SchoolBoston 02114MassachusettsUSA Department of Ophthalmology Shenzhen People’s Hospital(the Second Clinical Medical CollegeJinan Universitythe First Affiliated HospitalSouthern University of Science and Technology)Shenzhen 518020Guangdong ProvinceChina

●AIM:To identify disease-causative mutations in families with congenital cataract.●METHODS:Two Chinese families with autosomaldominant congenital cataract(ADCC)were recruited and underwent comprehensive eye examinations.Gene panel next-generation sequencing of common pathogenic genes of congenital cataract was performed in the proband of each family.Sanger sequencing was used to valid the candidate gene mutations and sequence the other family members for co-segregation analysis.The effect of sequence changes on protein structure and function was predicted through bioinformatics analysis.Major intrinsic protein(MIP)-wildtype and MIP-G29R plasmids were constructed and microinjected into zebrafish single-cell stage embryos.Zebrafish embryonic lens phenotypes were screened using confocal microscopy.●RESULTS:A novel heterozygous mutation(c.85G>A;p.G29R)in the MIP gene was identified in the proband of one family.A known heterozygous mutation(c.97C>T;p.R33C;rs864309693)in MIP was found in the proband of another family.In-silico prediction indicated that the novel mutation might affect the MIP protein function.Zebrafish embryonic lens was uniformly transparent in both wild-type PCS2+MIP and mutant PCS2+MIP.●CONCLUSION:Two missense mutations in the MIP gene in Chinese cataract families are identified,and one of which is novel.These findings expand the genetic spectrum of MIP mutations associated with cataracts.The functional studies suggest that the novel MIP mutation might not be a gain-of-function but a loss-of-function mutation.

关键词： congenital cataract major intrinsic protein missense mutation zebrafish model

Production of Functional Materials Derived from Regenerated Silk Fibroin by Utilizing 3D Printing and Biomimetic Enzyme-induced Mineralization

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Chinese Journal of Polymer Science 2024年第3期42卷 299-310,I0005页

作者： ni Chen Fei-Yu Luo Gong-wen Yang Jin-Rong Yao Xin Chen Zheng-Zhong Shao State Key Laboratory of Molecular Engineering of Polymers Laboratory of Advanced Materials and Department of Macromolecular ScienceFudan UniversityShanghai 200433China

Critical-sized bone defects, commonly encountered in clinical orthopedic surgery, present a significant challenge. One of the promising solutions is to prepare synthetic bone substitute materials with precise structural control, mechanical compatibility, and enhanced osteogenic induction performance, nevertheless the successful preparation of such materials remains difficult. In this study, a two-step technique,integrating an extrusion-based printing process with biomimetic mineralization induced by alkaline phosphatase(ALP), was developed. Initially,a pre-cured hydrogel of regenerated silk fibroin(RSF) with a small quantity of hydroxypropyl cellulose(HPC) and ALP was prepared through heating the mixed aqueous solution. This pre-cured hydrogel demonstrated thixotropic property and could be directly extruded into predetermined structures through a 3D-printer. Subsequently, the 3D-printed RSF-based materials with ALP underwent biomimetic in situ mineralization in calcium glycerophosphate(Ca-GP) mineralizing solution, utilizing the polymer chains of RSF as templates and ALP as a trigger for cleaving phosphate bonds of Ca-GP. The resulting 3D-printed RSF-mineral composites including hydrogel and sponge possessed adjustable compression modulus of megapascal grade and variable hydroxyapatite content, which could be controlled by manipulating the duration of the mineralization process.Moreover, these 3D-printed RSF-mineral composites demonstrated non-cytotoxicity towards rat bone marrow mesenchymal stem cells. Therefore, they may hold great potential for applications involving the replacement of tissues characterized by osteoinductivity and intricate structures.

关键词： Silk protein Alkaline phosphatase Extrusion-based printing Biomineralization

Electrochemical Reduction of Benzo[b]thiophene 1,1-Dioxides with HFIP as Hydrogen Donor

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Chinese Journal of Chemistry 2024年第6期42卷 585-591页

作者： Ming-Zhong Guo Mei-Jin Mou Zhuo Chen Shao-Fei ni Ming Li Li-Rong wen Lin-Bao Zhang State Key Laboratory Base of Eco-Chemical Engineering College of Chemistry and Molecular EngineeringQingdao University of Science & TechnologyQingdaoShandong266042 China Department of Chemistry and Key Laboratory for Preparation and Application of Ordered Structural Materials of Guangdong Province Shantou UniversityShantouGuangdong515063 China

A straightforward electrochemical reduction of benzo[b]thiophene 1,1-dioxides with HFIP as the hydrogen donor has been reported in an undivided cell under metal-free conditions.Moreover,the tolerance of various functi... 详细信息

关键词： Electrochemistry Reduction Benzo[b]thiophene 1,1-dioxides Deuterium Hydrogen source

Bioinspired zinc-mediated umpolung thiolation of alkyl electrophiles: reaction development, scope and mechanism

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Science China Chemistry 2024年第3期67卷 898-907页

作者： Yuenian Xu Yan Zhang Yong Liu wen-Wu Sun Jie Huang Hui He Yingjie Wu wen Liu Shao-Fei ni Xu-Qiong Xiao Xinxin Shao College of Material Chemistry and Chemical EngineeringKey Laboratory of Organosilicon Chemistry and Material Technology of Ministry of EducationHangzhou Normal UniversityHangzhou 311121China School of Pharmaceutical Sciences South-Central Minzu UniversityWuhan 430074China Department of Chemistry and Key Laboratory for Preparation and Application of Ordered Structural Materials of Guang-dong Province Shantou UniversityShantou 515063China

Zinc-promoted umpolung thiolation of alkyl electrophiles with masked sulfur transfer reagents in the absence of nickel or copper catalysis is described. This protocol proceeds via a SET process of Zn to electrophilic sulfur reagent followed by insertion of Zn into disulfide and nucleophilic thiolation, providing straightforward access to a wide range of alkyl sulfides with broad substrate scope. A neutral TMEDA-ligated four-coordinated zinc thiolate with tetrahedra geometry was synthesized, isolated and fully characterized by NMR, IR and X-ray analysis. More importantly, the chemical reactivity of this active intermediate has been investigated, enabling the construction of C-Se, C-Te, Sb-S and Bi-S bonds to prepare valuable sulfur-containing molecules and beyond.

关键词： umpolung thiolation C(sp^(3))-S bond formation masked sulfur reagents reductive coupling

Formation of free-surface vortex and vortex suppression by rotating stopper-rod at end of tundish casting

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Journal of Iron and Steel Research(International) 2024年第5期31卷 1104-1116页

作者： Qing Fang Peng Zhao Hua Zhang wen-hao Zhou Gang Yu Jia-hui Wang Hong-wei ni The State Key Laboratory of Refractories and Metallurgy Wuhan University of Science and TechnologyWuhan430081HubeiChina Hunan Valin Xiangtan Iron and Steel Co. Ltd.Xiangtan411101HunanChina Hubei Provincial Key Laboratory for New Processes of Ironmaking and Steelmaking Wuhan University of Science and TechnologyWuhan430081HubeiChina

A rotating stopper-rod technique was proposed to suppress the formation of free-surface vortex in the tundish.The large eddy simulation model coupled with volume of fluid model was developed to study the steel–slag–gas three-phase flow behavior.The critical slag entrapment height of the free-surface vortex and mass of residual steel were predicted at different rotating speeds(30,60,90 and 120 r/min)of the rotating stopper-rod.The numerical model was verified by water model experiment.The results showed that by rotating the stopper-rod in the opposite direction of the vortex above the submerged entry nozzle,the formation of vortex can be effectively disturbed and the critical height of the free-surface vortex can be reduced.Particularly for the 2nd strand,when the rotating speeds are 30,60,90 and 120 r/min,the critical height of the free-surface vortex above the 2nd strand is 7.3,4.7,6.3 and 7.4 cm,respectively.A reasonable rotating speed should be 60 r/min,which can reduce about 2 tons of residual steel.Other rotating speeds just can reduce about 1.6 tons of residual steel.

关键词： Tundish Free-surface vortex Stopper-rod Numerical simulation Multiphase flow

Development and validation of a novel non-invasive test for diagnosing nonalcoholic fatty liver disease in Chinese children

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World Journal of Pediatrics 2024年第4期20卷 413-421页

作者： Zhe-wen Qin Qian-Nan Ren Hong-Xi Zhang Ya-Ru Liu Ke Huang Wei Wu Guan-Ping Dong Yan ni Jun-Fen Fu Division of Endocrinology National Clinical Research Center for Child HealthNational Children’s Regional Medical CenterThe Children’s HospitalDepartment of EndocrinologyNational Clinical Research Center for Child HealthNational Children’s Regional Medical CenterThe Children’s HospitalZhejiang University School of MedicineHangzhou310052China

With the exploding prevalence of obesity,many children are at risk of developing nonalcoholic fatty liver disease.Using anthropometric and laboratory parameters,our study aimed to develop a model to quantitatively evaluate liver fat content(LFC)in children with obesity.Methods A well-characterized cohort of 181 children between 5 and 16 years of age were recruited to the study in the Endocrinology Department as the derivation cohort.The external validation cohort comprised 77 children.The assessment of liver fat content was performed using proton magnetic resonance spectroscopy.Anthropometry and laboratory metrics were measured in all subjects.B-ultrasound examination was carried out in the external validation cohort.The Kruskal-Wallis test,Spearman bivariate correlation analyses,univariable linear regressions and multivariable linear regression were used to build the optimal predictive model.Results The model was based on indicators including alanine aminotransferase,homeostasis model assessment of insulin resistance,triglycerides,waist circumference and Tanner stage.The adjusted R^(2)of the model was 0.589,which presented high sensitivity and specificity both in internal[sensitivity of 0.824,specificity of 0.900,area under curve(AUC)of 0.900 with a 95%confidence interval:0.783–1.000]and external validation(sensitivity of 0.918 and specificity of 0.821,AUC of 0.901 with a 95%confidence interval:0.818–0.984).Conclusions Our model based on five clinical indicators was simple,non-invasive,and inexpensive;it had high sensitivity and specificity in predicting LFC in children.Thus,it may be useful for identifying children with obesity who are at risk for developing nonalcoholic fatty liver disease.

关键词： Biochemical markers Children Magnetic resonance spectroscopy Nonalcoholic fatty liver disease Pediatric obesity

Imaging, pathology, and diagnosis of solitary fibrous tumor of the pancreas: A case report and review of literature

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World Journal of Clinical Cases 2024年第5期12卷 995-1003页

作者： wen-wen Wang Shu-Ping Zhou Xiang Wu Luo-Luo Wang Yi Ruan Jun Lu Hai-Li Li Xu-Ling ni Li-Li Qiu Xin-Hua Zhou Department of Hepatobiliary and Pancreatic Surgery The Affiliated Li Huili HospitalNingbo University School of MedicineNingbo 315000Zhejiang ProvinceChina ningbo College of Health Sciences Ningbo College of Health SciencesNingbo 315000Zhejiang ProvinceChina Health Science Center Ningbo UniversityNingbo 315000Zhejiang ProvinceChina Department of Hepatobiliary and Pancreatic Surgery The Affiliated Hangzhou First People’s HospitalZhejiang University School of MedicineHangzhou310006Zhejiang ProvinceChina Department of Diagnosis Ningbo Diagnostic Pathology CenterNingbo 315000Zhejiang ProvinceChina

BACKGROUND A solitary fibrous tumor(SFT)is often located in the pleura,while SFT of the pancreas is extremely rare.Here,we report a case of SFT of the pancreas and discuss imaging,histopathology,and immunohistochemistry for accurate diagnosis and treatment.CASE SUMMARY A 54-year-old man presented to our hospital with pancreatic occupancy for over a month.There were no previous complaints of discomfort.His blood pressure was normal.Blood glucose,tumor markers,and enhanced computed tomography(CT)suggested a malignant tumor.Because the CT appearance of pancreatic cancer varies,we could not confirm the diagnosis;therefore,we performed endoscopic ultrasound-guided fine-needle biopsy(EUS-FNB).Pathology and immunohistochemistry were consistent with SFT of the pancreas.The posto-perative pathology and immunohistochemistry were consistent with the puncture results.The patient presented for a follow-up examination one month after discharge with no adverse effects.CONCLUSION Other diseases must be excluded in patients with a pancreatic mass that cannot be diagnosed.CT and pathological histology have diagnostic value for pancreatic tumors.Endoscopic puncture biopsy under ultrasound can help diagnose pancreatic masses that cannot be diagnosed preoperatively.Surgery is an effective treatment for SFT of the pancreas;however,long-term follow-up is strongly recommended because of the possibility of malignant transformation of the tumor.

关键词： Pancreas Neoplasm fibrous tumor Endoscopic ultrasound-guided fine-needle biopsy Treatment Case report

Genomic data and ecological niche modeling reveal an unusually slow rate of molecular evolution in the Cretaceous Eupteleaceae

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Science China(Life Sciences) 2024年第4期67卷 803-816页

作者： Kun-Li Xiang Sheng-Dan Wu Lian Lian wen-Chuang He Dan Peng Huan-wen Peng Xiao-ni Zhang Hong-Lei Li Jia-Yu Xue Hong-Yan Shan Gui-Xia Xu Yang Liu Zhi-Qiang Wu Wei Wang State Key Laboratory of Plant Diversity and Specialty Crops Institute of BotanyChinese Academy of SciencesBeijing 100093China Shenzhen Branch Guangdong Laboratory of Lingnan Modern AgricultureKey Laboratory of Synthetic BiologyLaboratory of the Ministry of Agriculture and Rural AffairsAgricultural Genomics Institute at ShenzhenChinese Academy of Agricultural SciencesShenzhen 518120China China National Botanical Garden Beijing 100093China State Key Laboratory of Grassland Agro-Ecosystems and College of Ecology Lanzhou UniversityLanzhou 730000China University of Chinese Academy of Sciences Beijing 100049China College of Landscape Architecture and Life Science/Institute of Special Plants Chongqing University of Arts and SciencesChongqing 402160China College of Horticulture Academy for Advanced Interdisciplinary StudiesNanjing Agricultural UniversityNanjing 210095China Fairylake Botanical Garden Shenzhen&Chinese Academy of SciencesShenzhen 518004China

Living fossils are evidence of long-term sustained ecological success.However,whether living fossils have little molecular changes remains poorly known,particularly in plants.Here,we have introduced a novel method that integrates phylogenomic,comparative genomic,and ecological niche modeling analyses to investigate the rate of molecular evolution of Eupteleaceae,a Cretaceous relict angiosperm family endemic to East Asia.We assembled a high-quality chromosome-level nuclear genome,and the chloroplast and mitochondrial genomes of a member of Eupteleaceae(Euptelea pleiosperma).Our results show that Eupteleaceae is most basal in Ranunculales,the earliest-diverging order in eudicots,and shares an ancient whole-genome duplication event with the other Ranunculales.We document that Eupteleaceae has the slowest rate of molecular changes in the observed angiosperms.The unusually low rate of molecular evolution of Eupteleaceae across all three independent inherited genomes and genes within each of the three genomes is in association with its conserved genome architecture,ancestral woody habit,and conserved niche requirements.Our findings reveal the evolution and adaptation of living fossil plants through large-scale environmental change and also provide new insights into early eudicot diversification.

关键词： conservation genomics eudicots evolutionary rates niche conservatism phylogenomics

Evaluation of retinal and choroidal thickness changes in overweight and obese adults without ocular symptoms by swept-source optical coherence tomography

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International Journal of Ophthalmology(English edition) 2024年第4期17卷 707-712页

作者： Qing-Jian Li Sheng-Mei Zhou Ling-Yu Zhang An-ni Lin Yang Zhang Jing Jiang Xin Che Yi-wen Qian Yan Liu Zhi-Liang Wang Department of Ophthalmology Huashan HospitalFudan UniversityShanghai 200040China Eye Institute of Xiamen University Xiamen University School of MedicineXiamen 361005Fujian ProvinceChina Department of Gastroenterology Huashan HospitalFudan UniversityShanghai 200040China

AIM:To evaluate the relationship of overweight and obesity with retinal and choroidal thickness in adults without ocular symptoms by swept-source optical coherence tomography(SS-OCT).METHODS:According to the body mass index(BMI)results,the adults enrolled in the cross-sectional study were divided into the normal group(18.50≤BMInificantly thinner in both the overweight and obesity groups compared to the normal group(Pnificantly.Pearson’s correlation analysis showed that BMI was significantly negatively correlated with choroidal thickness,but no significant correlation was observed between BMI and retinal thickness.CONCLUSION:Choroidal thickness is decreased in people with overweight or obesity.Research on changes in choroidal thickness contributes to the understanding of the mechanisms of certain ocular disorders in overweight and obese adults.

关键词： overweight obesity body mass index choroidal thickness retinal thickness swept-source optical coherence tomography