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C634Y mutation in RET-induced multiple endocrine neoplasia type 2A:A case report

World Journal of Clinical Cases 2024年第15期12卷 2627-2635页

作者： Hui-Fen Zhang Shu-Ling Huang Wen-Li Wang yu-qing zhou Jun Jiang Zhuo-Jin Dai Department of Endocrinology Dongguan Hospital of Guangzhou University of Chinese MedicineDongguan 523003Guangdong ProvinceChina Department of Science and Technology Services Beijing Macro and Micro Test Co.Ltd.Beijing 100318China The First Clinical Medical College Guangdong Medical UniversityZhanjiang 524023Guangdong ProvinceChina

BACKGROUND Multiple endocrine neoplasia type 2(MEN2)is a rare,autosomal dominant endocrine ***,the RET proto-oncogene is the only gene implicated in MEN2A *** an RET carrier is detected,family members should be screened to enable early detection of medullary thyroid carcinoma,pheochromocytoma,and *** these,medullary thyroid carcinoma is the main factor responsible for patient ***,delineating strategies to inform clinical follow-up and treatment plans based on genes is paramount for clinical *** SUMMARY Herein,we present RET proto-oncogene mutations,clinical characteristics,and treatment strategies in a family with MEN2A.A family study was conducted on patients diagnosed with *** was extracted from the peripheral blood of family members,and first-generation exon sequencing of the RET protooncogene was *** C634Y mutation was identified in three family members spanning three *** patients were sequentially diagnosed with pheochromocytomas and bilateral medullary thyroid carcinomas.A 9-yearold child harboring the gene mutation was diagnosed with medullary thyroid *** resection of the tumors was *** family members were advised to undergo complete genetic testing related to the C634Y mutation,and the corresponding treatments administered based on test results and associated clinical *** Advancements in MEN2A research are important for familial management,assessment of medullary thyroid cancer invasive risk,and deciding surgical timing.

关键词： Multiple endocrine neoplasia type 2A Mutation RET proto-oncogene Medullary thyroid carcinoma Pheochromocytoma Case report

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Novel hydroxymethylbilane synthase gene mutation identified and confirmed in a woman with acute intermittent porphyria:A case report

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World Journal of Clinical Cases 2022年第33期10卷 12319-12327页

作者： yu-qing zhou Xiao-qing Wang Jun Jiang Shu-Ling Huang Zhuo-Jin Dai Qiao-Qiong Kong Department of Endocrinology Dongguan Hospital of Traditional Chinese MedicineDongguan 523003Guangdong ProvinceChina Department of Science and Technology ServicesChina Beijing Macro and Micro Test Biotech Co.Ltd Beijing 100318China The First Clinical Medical College Guangdong Medical UniversityZhanjiang 523003Guangdong ProvinceChina Department of Medicine Wanjiang People's Hospital of DongguanDongguan 523003Guangdong ProvinceChina

BACKGROUND Acute intermittent porphyria(AIP)is a rare autosomal dominant porphyrin metabolic disease caused by a mutation in the hydroxymethylbilane synthase(HMBS)*** study aimed to explore the clinical manifestations of a patient with AIP,to identify a novel HMBS gene mutation in the proband and some of her family members,and to confirm the pathogenicity of the *** SUMMARY A 22-year-old Chinese woman developed severe abdominal pain,lumbago,sinus tachycardia,epileptic seizure,hypertension,and weakness in lower limbs in March,*** examinations indicated hypohepatia and *** last menstrual period was 45 d prior to admission,and she was unaware of the pregnancy,which was confirmed by a pregnancy test after *** exposure of her urine sample for 1 h turned it from yellow to wine *** porphyrin test result was *** on these clinical manifestations,AIP was *** increasing her daily glucose intake(250–300 g/d),abdominal pain was partially *** days after hospitalization,spontaneous vaginal bleeding occurred,which was confirmed as spontaneous abortion;thereafter,her clinical symptoms completely *** testing revealed a novel heterozygous splicing variant of the HMBS gene in exon 10(c.648_651+1delCCAGG)in the proband and four other family *** pathogenicity of the variant was verified through bioinformatic methods and a minigene *** We identified a novel HMBS gene mutation in a Chinese patient with AIP and confirmed its pathogenicity.

关键词： Acute intermittent porphyria Hydroxymethylbilane synthase gene Novel mutation Minigene assay Bioinformatics analysis Case report

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Differential diagnosis of different types of solid focal liver lesions using two-dimensional shear wave elastography

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World Journal of Gastroenterology 2022年第32期28卷 4715-4724页

作者： Jia Guo Dong Jiang Yi Qian Jiao yu Yi-Jun Gu yu-qing zhou Hui-Ping Zhang Department of Ultrasound Shuguang Hospital Affiliated to Shanghai University of Traditional Chinese MedicineShanghai 201203China Department of Ultrasound Eastern Hepatobiliary Surgery Hospital Affiliated to Naval Medical UniversityShanghai 200433China Department of Infectious Diseases Eastern Hepatobiliary Surgery Hospital Affiliated to Naval Medical UniversityShanghai 200433China Department of Ultrasound Shanghai Changning Maternity and Infant Health HospitalEast China Normal UniversityShanghai 200050China

BACKGROUND The clinical management and prognosis differ between benign and malignant solid focal liver lesions(FLLs),as well as among different pathological types of malignant *** diagnosis of the possible types of solid FLLs is *** previous study confirmed the value of shear wave elastography(SWE)using maximal elasticity(Emax)as the parameter in the differential diagnosis between benign and malignant ***,the value of SWE in the differential diagnosis among different pathological types of malignant FLLs has not been *** To explore the value of two-dimensional SWE(2D-SWE)using Emax in the differential diagnosis of FLLs,especially among different pathological types of malignant *** All the patients enrolled in this study were diagnosed as benign,malignant or undetermined FLLs by conventional *** of FLLs and the periphery of FLLs was measured using 2D-SWE and compared between benign and malignant FLLs or among different pathological types of malignant *** The study included 32 benign FLLs in 31 patients and 100 malignant FLLs in 96 patients,including 16 cholangiocellular carcinomas(CCCs),72 hepatocellular carcinomas(HCCs)and 12 liver ***-five FLLs were diagnosed as undetermined by conventional *** were significant differences between Emax of malignant(2.21±0.57 m/s)and benign(1.59±0.37 m/s)FLLs(P=0.000),and between Emax of the periphery of malignant(1.52±0.39 m/s)and benign(1.36±0.44 m/s)FLLs(P=0.040).Emax of liver metastases(2.73±0.99 m/s)was significantly higher than that of CCCs(2.14±0.34 m/s)and HCCs(2.14±0.46 m/s)(P=0.002).The sensitivity,specificity and accuracy were 71.00%,84.38%and 74.24%respectively,using Emax>1.905 m/s(AUC 0.843)to diagnose as malignant and 23 of 35(65.74%)FLLs with undetermined diagnosis by conventional ultrasound were diagnosed *** Malignant FLLs were stiffer than benign ones and liver metastases were stiffer than primary liver carc

关键词： Focal liver lesions Conventional ultrasound Two-dimensional shear wave elastography Differential diagnosis

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Nanoscopic tribological characteristics of a cryogenically cycled Zr-based metallic glass

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Science China(Physics,Mechanics & Astronomy) 2024年第6期67卷 113-126页

作者： Qian Jia Qiaosheng Xia qing zhou yucheng Wang yue Ren yu Meng Haifeng Wang Feng zhou State Key Laboratory of Solidification Processing Center of Advanced Lubrication and Seal MaterialsNorthwestern Polytechnical UniversityXi’an 710072China Shaanxi Key Laboratory of Surface Engineering and Remanufacturing Xi’an UniversityXi’an 710065China State Key Laboratory of Solid Lubrication Lanzhou Institute of Chemical PhysicsChinese Academy of SciencesLanzhou 730000China

Optimized macroscopic tribological behavior can be anticipated in metallic glasses(MGs)by cryogenic cycling treatment(CCT),which is attributed to enhanced ***,the intrinsic friction mechanisms of MGs induced by cryogenic rejuvenation are still poorly *** the present study,nanoscopic wear tests were conducted on the Zr-based MGs surface with different CCT cycles using atomic force microscopy(AFM).After CCT treatment with 100 cycles,the MG displays the highest adhesion and ploughing frictions,but significantly improved anti-wear *** tests and molecular dynamics simulations disclose that the increased adhesion is attributed to the dominance of liquid-like regions in the CCT-treated MGs,and the impact of reduced hardness and weak elastic recovery results in the deteriorated ploughing *** enhanced plasticity effectively dissipates the strain from the AFM tip through multiple shear bands and weakens the adhesion during deformation,giving rise to excellent wear *** study elucidates the promoting effect of CCT on the outstanding antiwear performance of MGs,and is helpful for the development of novel alloys.

关键词： metallic glasses cryogenic cycling treatment nanoscope wear friction mechanism

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Micro defects formation and dynamic response analysis of steel plate of quasi-cracking area subjected to explosive load

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Defence Technology（防务技术） 2024年第1期31卷 580-593页

作者： Zheng-qing zhou Ze-chen Du Xiao Wang Hui-ling Jiang Qiang zhou yu-long Zhang yu-zhe Liu Pei-ze Zhang Research Institute of Macro-Safety Science University of Science and TechnologyBeijing100083China School of Civil and Resource Engineering University of Science and Technology BeijingBeijing100083China School of Mechanical Engineering Nantong UniversityNantong226019China China North Industry Advanced Technology Generalization Institute Beijing100089China China Academy of Ordnance Science China

As the protective component,steel plate had attracted extensive attention because of frequently threats of explosive *** this paper,the evolution of microstructure and the mechanism of damage in the quasi-cracking area of steel plate subjected to explosive load were discussed and the relationships between micro defects and dynamic mechanical response were *** the explosion experiment,five observation points were selected equidistant from the quasi-cracking area of the section of the steel plate along the thickness direction,and the characteristics of micro defects at the observation points were analyzed by optical microscope(OM),scanning electron microscope(SEM) and electron backscattered diffraction(EBSD).The observation result shows that many slip bands(SBs) appeared,and the grain orientation changed obviously in the steel plate,the two were the main damage types of micro *** addition,cracks,peeling pits,grooves and other lager micro defects were appeared in the lower area of the *** stress parameters of the observation points were obtained through an effective numerical *** mechanism of damage generation and crack propagation in the quasicracking area were clarified by comparing the specific impulse of each observation point with the corresponding micro *** result shows that the generation and expansion of micro defects are related to the stress area(*** upper compression area,the neutral plane area,and the lower tension area).The micro defects gather and expand at the grain boundary,and will become macroscopic damage under the continuous action of tensile ***,the micro defects at the midpoint of the section of the steel plate in the direction away from the explosion center(*** horizontal direction) were also *** was found that the specific impulse at these positions were much smaller than that in the thickness direction,the micro defects were only SBs and a few micro cracks,and the those decrea

关键词： Explosive load Quasi-cracking area Micro defects Steel plate Dynamic response Numerical simulation

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Paeoniflorin,the Main Monomer Component of Paeonia lactiflora,Exhibits Anti-inflammatory Properties in Osteoarthritis Synovial Inflammation

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Chinese Journal of Integrative Medicine 2024年第5期30卷 433-442页

作者： CHEN Pu zhou Jun RUAN An-min MA yu-feng WANG qing-fu Department of Orthopaedic Surgery Beijing University of Chinese Medicine Third Affiliated HospitalBeijing 100029China Department of Orthopaedic Surgery Guangdong Provincial Hospital of Chinese MedicineGuangzhou 510120China Department of Orthopaedic Surgery Beijing Longfu HospitalBeijing 100010China

Objective:To explore the mechanism of paeoniflorin(PF)on osteoarthritis(OA)synovial inflammation from network pharmacology to experimental ***:Targets of OA were constructed by detecting the database of network database platforms(Therapeutic Target database,Drug Bank and Gene Cards),and the targets of PF were constructed by Pub Chem and Herbal Ingredients'Targets *** Ontology(GO)and Kyoto Encyclopedia of Genes and Genomes(KEGG)analysis of these co-targeted genes were conducted via Database for Annotation,Visualization,and Integrated Discovery(DAVID)database,and protein-protein interaction(PPI)networks were conducted via the search tool for the retrieval of interacting genes(STRING)*** counting kit-8(CCK-8)assay was performed to assess the potential toxicity of PF on human OA fibroblast-like synoviocytes(FLS),quantitative real-time polymerase chain reaction(q PCR),enzyme-linked immunosorbent assay(ELISA)and Western blot were used to verify the potential mechanism of PF in synovial ***:Twenty-six co-targeted genes were *** enrichment results showed that these co-targeted genes were most likely localized in the cytoplasm,and the biological processes mainly involved'cellular response to hypoxia''lipopolysaccharide(LPS)-mediated signaling pathway'and'positive regulation of gene expression'.KEGG pathway analysis indicated that these co-targeted genes may function through pathways associated with'hypoxia-inducible factor-1(HIF-1)signaling pathway'and'tumornecrosis factor(TNF)signaling pathway'.The PPI network showed that the top 3 hub genes were TP53,TNF,and *** docking results showed that PF was well docking with ***-8 showed no potential toxicity of 10,20 and 50μmol/L PF on human OA *** PF significantly decreased the expression levels of interleukin-1β,interleukin-6,TNF-αmatrix metalloproteinase 13(MMP13),and a disintegrin and metalloproteinase with thrombospondin motifs 5(ADAMTS5)and TNF

关键词： paeoniflorin osteoarthritis synovial inflammation tumor necrosis factor-α network pharmacology Paeonia lactiflora

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Synthesis of Planar-Chiral[2.2]Paracyclophane-Based Oxazole-Pyrimidine Ligands and Application in Nickel-Catalyzed 1,2-Reduction ofα,β-Unsaturated Ketones

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Chinese Journal of Chemistry 2024年第7期42卷 705-710页

作者： Juan Wang qing-Xian Xie Xiang Li Chang-Bin yu Yong-Gui zhou School of Chemistry Dalian University of Technology2 Linggong RoadDalianLiaoning 116024China State Key Laboratory of Catalysis Dalian Institute of Chemical PhysicsChinese Academy of SciencesDalianLiaoning 116023China

The planar-chiral ligands have been widely applied as a class of unique and significant ligands in asymmetric *** them,chiral[2.2]paracycyclophane has emerged as a privileged type of planar-chiral framework and has been utilized as an important toolbox due to their structural ***,we design and synthesize[2.2]paracyclophane-derived oxazole-pyrimidine ligands(abberviated as PYMCOX).These N,N-ligands with stable properties,rigid structure and large steric hindrance performed successfully in nickel-catalyzed asymmetric 1,2-reduction ofα,β-unsaturated ketones,affording the chiral allylic alcohols with up to 99%yield and 99%***,this reduction reaction could be conducted on gram-scale without loss of activity and enantioselectivity,and the chiral ligand could be conveniently recovered with high yield.

关键词： Oxazole-pyrimidine ligands Planar chirality Nickel Hydroboration Asymmetric synthesis

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One-pot Synthesis of MoO_(3)/PI Composite with Enhanced Photocatalytic Performance for Oxidative Coupling of Amines to Imines

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China Petroleum Processing & Petrochemical Technology 2024年第2期26卷 57-71页

作者： Zhao Wenjie Du Chengxin Song yu zhou Yafen Wang qing zhou Limei Xu Bin Chemical Synthesis and Pollution Control Key Laboratory of Sichuan Province College of Chemistry and Chemical EngineeringChina West Normal UniversityNanchongChina Key Laboratory of Green Chemistry of Sichuan Institutes of Higher Education Sichuan University of Science&EngineeringZigongChina

Organic-inorganic MoO_(3)/PI(MoPI)composites were prepared using a simple one-pot thermal copolymerization *** resulting composites exhibited enhanced photocatalytic activity for the selective oxidation of benzylamine to N-benzylidene benzylamine(N-BDBA)in ambient air under simulated solar light irradiation compared to pristine MoO_(3) or polyimide(PI).In particular,the MoPI composite with a 0.3:1 molar ratio of Mo to melamine,referred to as MoPI-0.3,demonstrated the best performance in the photo-oxidation of benzylamine,achieving a benzylamine conversion of 95%with a N-BDBA selectivity exceeding 99%after 3 h *** enhanced photocatalytic activity of the MoPI-0.3 catalyst was attributed to the formation of a direct Z-scheme heterojunction between MoO_(3) and PI,facilitating more efficient separation of the photoinduced electrons and ***,the MoPI-0.3 composite maintained considerably high activity over four consecutive cycles,highlighting its good stability and ***,the MoPI-0.3 composite could photo-oxidize benzylamine derivatives and heterocyclic amines to their corresponding imines,demonstrating the universal applicability of this composite catalyst.

关键词： MoO3/PI composite photocatalysis amine oxidation imine

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Mediating role of social support in dysphoria,despondency,and quality of life in patients undergoing maintenance hemodialysis

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World Journal of Psychiatry 2024年第3期14卷 409-420页

作者： Xiang zhou Hong Jiang Yi-Peng zhou Xiao-yu Wang Hai-Yan Ren Xue-Fei Tian qing-qing Zhang Department of Nephrology People’s Hospital of Xinjiang Uygur Autonomous RegionXinjiang Clinical Research Center for Kidney DiseaseUrumqi 832000Xinjiang Uygur Autonomous RegionChina Department of Endocrinology and Metabolism People’s Hospital of Xinjiang Uygur Autonomous RegionUrumqi 832000Xinjiang Uygur Autonomous RegionChina Section of Nephrology Department of Internal MedicineYale University School of MedicineNew HavenCT 06510United States

BACKGROUND Dysphoria and despondency are prevalent psychological issues in patients undergoing Maintenance Hemodialysis(MHD)that significantly affect their quality of life(QOL).High levels of social support can significantly improve the physical and mental well-being of patients undergoing ***,there is limited research on how social support mediates the relationship between dysphoria,despondency,and overall QOL in patients undergoing *** is imperative to investigate this mediating effect to mitigate dysphoria and despondency in patients undergoing MHD,ultimately enhancing their overall *** To investigate the mediating role of social support in relationships between dysphoria,despondency,and QOL among patients undergoing *** Participants comprised 289 patients undergoing MHD,who were selected using a random sampling *** Social Support Rating Scale,Self-Rating Anxiety Scale,Self-Rating Depression Scale,and QOL Scale were *** analysis was performed to examine the associations between social support,dysphoria,despondency,and QOL in patients undergoing *** assess the mediating impact of social support on dysphoria,despondency,and QOL in patients undergoing MHD,a bootstrap method was *** Significant correlations among social support,dysphoria,despondency,and quality in patients undergoing MHD were observed(all P<0.01).Dysphoria and despondency negatively correlated with social support and QOL(P<0.01).Dysphoria and despondency had negative predictive impacts on the QOL of patients undergoing MHD(P<0.05).The direct effect of dysphoria on QOL was statistically significant(P<0.05).Social support mediated the relationship between dysphoria and QOL,and this mediating effect was significant(P<0.05).Similarly,the direct effect of despondency on QOL was significant(P<0.05).Moreover,social support played a mediating role between despondency and QOL,with a significant mediating effect(P<0.05).CONCLUSION These find

关键词： Maintenance hemodialysis Social support Dysphoria Despondency Quality of life Mediating effect

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Adhesion Performances Between Two Orthotropic Solids Influenced by Temperature Increment

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Acta Mechanica Solida Sinica 2024年第3期37卷 430-443页

作者： qing-Hui Luo yue-Ting zhou School of Aerospace Engineering and Applied Mechanics Tongji UniversityShanghai200092China

The classical adhesive contact models belong to isothermal adhesion theories,where the effect of temperature on adhesion was ***,a number of experimental results indicated that the adhesion behaviors can be significantly affected by *** this paper,the two-dimensional non-slipping anisothermal adhesion behaviors between two orthotropic elastic cylinders are investigated within the framework of the Johnson-Kendall-Roberts *** stated problem is reduced to the coupled singular integral equations by virtue of the Fourier integral transform,which are solved analytically with the analytical function *** closed-form solutions for the stress fields in the presence of thermoelastic effect are *** stable equilibrium state of contact system is determined by virtue of the Griffith energy *** effect of temperature difference on adhesion behaviors between orthotropic solids is *** is found that the difference between the oscillatory and non-oscillatory solutions increases with increasing the degree of anisotropy of orthotropic *** oscillatory solution cannot be well approximated by the non-oscillatory solution for the orthotropic materials with relatively high anisotropy.

关键词： Adhesive contact Non-slipping JKR model Temperature Griffith energy balance

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