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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 disease.Currently,the RET proto-oncogene is the only gene implicated in MEN2A pathogenesis.Once an RET carrier is detected,family members should be screened to enable early detection of medullary thyroid carcinoma,pheochromocytoma,and hyperparatitity.Among these,medullary thyroid carcinoma is the main factor responsible for patient mortality.Accordingly,delineating strategies to inform clinical follow-up and treatment plans based on genes is paramount for clinical practitioners.CASE 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 MEN2A.DNA was extracted from the peripheral blood of family members,and first-generation exon sequencing of the RET protooncogene was conducted.The C634Y mutation was identified in three family members spanning three generations.Two patients were sequentially diagnosed with pheochromocytomas and bilateral medullary thyroid carcinomas.A 9-yearold child harboring the gene mutation was diagnosed with medullary thyroid carcinoma.Surgical resection of the tumors was performed.All 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 guidelines.CONCLUSION 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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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 FLLs.Accurate diagnosis of the possible types of solid FLLs is important.Our 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 FLLs.However,the value of SWE in the differential diagnosis among different pathological types of malignant FLLs has not been proved.AIM 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 FLLs.METHODS All the patients enrolled in this study were diagnosed as benign,malignant or undetermined FLLs by conventional ultrasound.Emax 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 FLLs.RESULTS 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 metastases.Thirty-five FLLs were diagnosed as undetermined by conventional ultrasound.There 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 correctly.CONCLUSION Malignant FLLs were stiffer than benign ones and liver metastases were stiffer than primary liver carcinomas.2D-SWE with Emax was a useful complement

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

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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)gene.This 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 variant.CASE SUMMARY A 22-year-old Chinese woman developed severe abdominal pain,lumbago,sinus tachycardia,epileptic seizure,hypertension,and weakness in lower limbs in March,2018.Biochemical examinations indicated hypohepatia and hyponatremia.Her last menstrual period was 45 d prior to admission,and she was unaware of the pregnancy,which was confirmed by a pregnancy test after admission.Sunlight exposure of her urine sample for 1 h turned it from yellow to wine red.Urinary porphyrin test result was positive.Based on these clinical manifestations,AIP was diagnosed.After increasing her daily glucose intake(250–300 g/d),abdominal pain was partially relieved.Three days after hospitalization,spontaneous vaginal bleeding occurred,which was confirmed as spontaneous abortion;thereafter,her clinical symptoms completely resolved.Genetic 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 members.The pathogenicity of the variant was verified through bioinformatic methods and a minigene assay.CONCLUSION 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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Henry Reaction in Aqueous Media: Chemoselective Addition of Aldehydes

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Chinese Chemical Letters 2003年第4期14卷 355-358页

作者： Cun Liu zhou yu qing zhou Zhi Yong WANG Department of Chemistry University of Science&Technology of ChinaHefei 230026

The chemoselective addition of aldehydes in aquoues medium was obtained under mild condition using improved Henry reaction.

关键词： Chemoselective addition water Henry reaction.

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Value of shear wave elastography with maximal elasticity in differentiating benign and malignant solid focal liver lesions

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World Journal of Gastroenterology 2020年第46期26卷 7416-7424页

作者： Hui-Ping Zhang Ji-Ying Gu Min Bai Fan Li yu-qing zhou Lian-Fang Du Department of Ultrasound Shanghai Changning Maternity and Infant Health HospitalEast China Normal UniversityShanghai 200050China Department of Ultrasound Shanghai Fourth People’s HospitalShanghai Tongji University School of MedicineShanghai 200434China Department of Ultrasound Shanghai General HospitalShanghai Jiaotong University School of MedicineShanghai 200080China

BACKGROUND It is important to differentiate benign and malignant focal liver lesions(FLLs)accurately.Despite the wide use and acceptance of shear wave elastography(SWE),its value for assessing the elasticity of FLLs and differentiating benign and malignant FLLs is still investigational.Previous studies of SWE for FLLs used mean elasticity as the parameter to reflect the stiffness of FLLs.Considering the inhomogeneity of tumor stiffness,maximal elasticity(Emax)might be the suitable parameter to reflect the stiffness of FLLs and to differentiate malignant FLLs from benign ones.AIM To explore the value of SWE with Emax in differential diagnosis of solid FLLs.METHODS We included 104 solid FLLs in 95 patients and 50 healthy volunteers.All the subjects were examined using conventional ultrasound(US)and virtual touch tissue quantification(VTQ)imaging.A diagnosis of benign or malignant FLL was made using conventional US.Ten VTQ values were acquired after 10 consecutive measurements for each FLL and each normal liver,and the largest value was recorded as Emax.RESULTS There were 56 cases of malignant FLLs and 48 cases of benign FLLs in this study.Emax of malignant FLLs(3.29±0.88 m/s)was significantly higher than that of benign FLLs(1.30±0.46 m/s,P<0.01)and that of livers in healthy volunteers(1.15±0.17 m/s,P<0.01).The cut-off point of Emax was 1.945,and the area under the curve was 0.978.The sensitivity and specificity of Emax were 92.9%and 91.7%,respectively,higher(but not significantly)than those of conventional US(80.4%for sensitivity and 81.3%for specificity).Combined diagnosis of conventional US and Emax using parallel testing improved the sensitivity to 100%with specificity of 75%.CONCLUSION SWE is a convenient and easy method to obtain accurate stiffness information of solid FLLs.Emax is useful for differential diagnosis of FLLs,especially in combination with conventional US.

关键词： Focal hepatic lesions Shear wave elastography Conventional ultrasound Maximal elasticity

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Antenatal Diagnosis and Outcome of 12 Congenital Cystic Adenomatoid Malformation of Lung

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Journal of Reproduction and Contraception 2007年第4期18卷 289-295页

作者： Xue-lian LI yu-qing zhou Jue-hua ZHANG Ying-liu YAN Xiao-tian LI Obstetrics Department the Obstetrics ＆ Gynecology Hospital of FudanUniversity Shanghai 200011 China Ultrasonography Department the Obstetrics ＆ Gynecology Hospital of FudanUniversity Shanghai 200011 China

Objective To investigate the ultrasonic detection probability, type, prenatal diagnosis, and outcome of congenital cystic adenomatoid malformation of lung （CCAM）. Methods In this retrospective study, all 12 cases which were diagnosed with suspected prenatal CC,4M over the period in the hospital were analyzed. Information on diagnosis time, types and progression of the lesions during pregnancy, the additional abnormalities, and the outcome of pregnancies were recorded.Results The positive rate of ultrasonic detection of CCAM was about 1.01‰ （1/11 124） before 28 gestation weeks. There were 1 case of type Ⅰ （8%）, 2 cases of type Ⅱ （17%） and 9 cases of type Ⅲ （75%）. Nine pregnancies were terminated and 2 cases were confirmed by pathology. Three neonates were alive and without any symptom now. Conclusions Type Ⅲ is the major type. Ultrasound examination during 20-28 weeks and following up, prenatal consultation, chromosome examination offetus, delivery with a pediatrician standing by, and all suspected neonates being investigated are recommended.

关键词： congenital cystic adenomatoid malformation of lung ultrasonic detection type prenatal diagnosis outcome

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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 pharmacology.Methods: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 database.Gene 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)database.Cell 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 inflammation.Results:Twenty-six co-targeted genes were identified.GO 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 CASP3.Molecular docking results showed that PF was well docking with TNF.CCK-8 showed no potential toxicity of 10,20 and 50μmol/L PF on human OA FLS.And 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-αin LPS-induced OA FLS.Conclusion:PF exhibited

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 catalysis.Among 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 stability.Herein,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%ee.Meanwhile,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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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 plasticity.However,the intrinsic friction mechanisms of MGs induced by cryogenic rejuvenation are still poorly understood.In 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 properties.Adhesion 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 friction.The 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 resistance.This 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 loads.In 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 revealed.After 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 defects.In addition,cracks,peeling pits,grooves and other lager micro defects were appeared in the lower area of the plate.The stress parameters of the observation points were obtained through an effective numerical model.The 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 defects.The result shows that the generation and expansion of micro defects are related to the stress area(i.***.the 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 stress.Besides,the micro defects at the midpoint of the section of the steel plate in the direction away from the explosion center(i.***.the horizontal direction) were also studied.It 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 decreased with the increase of the distance from the e

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

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