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Child with adenylosuccinate lyase deficiency caused by a novel complex heterozygous mutation in the ADSL gene:A case report

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World Journal of Clinical Cases 2022年第30期10卷 11082-11089页

作者： Xing-chen Wang Ting Wang Rui-Han Liu Yan Jiang dan-dan chen Xin-Yu Wang Qing-Xia Kong Cheeloo College of Medicine Shandong UniversityJinan 250012Shandong ProvinceChina Department of Neurology Affiliated Hospital of Jining Medical UniversityJining 272000Shandong ProvinceChina Department of Pediatrics Affiliated Hospital of Jining Medical UniversityJining 272000China College of TCM Shandong University of Traditional Chinese MedicineJinan 250012Shandong ProvinceChina Clinical Medical College Jining Medical UniversityJining 272000Shandong ProvinceChina

BACKGROUND Adenylosuccinate lyase(ADSL)deficiency is a rare autosomal-recessive defect of purine metabolism caused by mutation of the ADSL *** can cause severe neurological impairment and diverse clinical manifestations,including *** SUMMARY Here,we describe a 3-year-old Chinese boy who had both psychomotor retardation and refractory *** resonance imaging showed myelin *** findings supported a diagnosis of ***-exon sequencing revealed the presence of a novel complex heterozygous mutation in the ADSL gene:The splicing mutation c.154-3C>G and the missense mutation c.71C>T(***24Leu).Considering the patient’s clinical presentation and genetic test results,the complex heterozygous mutation was predicted to prevent both ADSL alleles from producing normal ADSL,which may have led to ADSL ***,the child was diagnosed with ADSL *** We identified a novel complex heterozygous mutation in the ADSL gene associated with ADSL deficiency,thus expanding the known spectrum of pathogenic mutations that cause ADSL ***,we describe epilepsy that occurs in patients with ADSL deficiency.

关键词： Adenylosuccinate lyase deficiency Compound heterozygous mutations Epilepsy Pathogenic mutation Case report

A new method for concentration analysis of bacterial endotoxins in perfluorocarbon

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Frontiers of Materials Science 2014年第4期8卷 399-402页

作者： dan-dan chen Xiao-Ming FENG Chun-Ren WANG Qing-Quan HUANG Zhao-Peng YANG Qing-Yuan MENG National Institutes for Food and Druq Control Beijing 100050 China School of Materials Science and Engineering Tsinghua University Beijing 100084 China

This communication demonstrates the feasibility of the gel-clot method for the analysis of bacterial endotoxins in water extracts of perfluorocarbon which is a water insoluble liquid medical device. Perfluorocarbon （10 mL） was shaken with 10 mL water for 15 min at 2000 r/min and the endotoxin present was extracted to the aqueous phase without interference inhibition/enhancement of the product and the recovery of endotoxin added to perfluorocarbon was determined, A validation study confirmed that endotoxins presented in perfluorocarbon pass over into the aqueous phase at concentrations of 20, 10 and 5EU/mL with recoveries from 86.8% to 96.8%. Therefore, the gel-clot test is suitable for detecting bacterial endotoxins in perfluorocarbon which is a water insoluble medical device.

关键词： perfluorocarbon bacterial endotoxin endotoxin recovery

Small balloon strategy associated with low pacemaker implantation rate after self-expanding transcatheter valve implantation

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World Journal of Emergency Medicine 2021年第1期12卷 48-53页

作者： Yuan Zhang Wen-zhi Pan Li-hua Guan Xiao-chun Zhang Sha-sha chen Li-fan Yang Lei Zhang Ming-fei Li dan-dan chen Da-xin Zhou Jun-bo Ge Department of Cardiology Shanghai Institute of Cardiovascular DiseaseZhongshan HospitalFudan UniversityShanghai 200032China

BACKGROUND: This study aims to investigate whether small balloon aortic valvuloplasty(BAV) reduces the need for permanent pacemaker implantation (PPMI) after transcatheter aortic valveimplantation (TAVI).METHODS: This was a retrospective analysis using data from our local TAVI database. SmallBAV was defined as a small balloon size (=18 mm) pre-dilatation. Normal BAV was defined as aballoon size >18 mm. The primary endpoint was the incidence of new ***: Of 99 consecutive TAVI patients, five patients were excluded due to pre-existingpermanent pacemaker. Patients in the small BAV group (n=57) had a signifi cantly lower PPMI ratecompared with the normal BAV group (n=37) (3.5% vs. 18.9%, P=0.026). Moderate or severe aorticvalve regurgitation post-procedure was similar between the small BAV and normal BAV groups (5.3%vs. 8.1%, P=0.480);likewise, the mean aortic gradient post-procedure did not differ significantly(11.5±5.2 mmHg vs. 12.2±7.3 mmHg, 1 mmHg=0.133 kPa, P=0.580) between the groups. Devicesuccess rates were also similar (94.7% vs. 91.8%, P=0.680). In multivariable analysis, small BAV(P=0.027), the ratio of prosthesis diameter to annulus diameter (P=0.048), and mean aortic gradientby echo in the basement (P=0.021) were independent predictors of ***: The small BAV strategy is associated with a low rate of permanentpacemaker implantation after transcatheter self-expanding valve implantation in this single-centerobservational study.

关键词： Transcatheter aortic valve implantation Balloon aortic valvuloplasty Balloon size Permanent pacemaker implantation

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Extensively infarcted giant solitary hamartomatous polyp treated with endoscopic full-thickness resection:A case report

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World Journal of Clinical Cases 2023年第8期11卷 1782-1787页

作者： Lu Ye Ji-Hong Zhong Yong-Pan Liu dan-dan chen Si-Yi Ni Fa-Quan Peng Shuo Zhang The Second Clinical Medical College Zhejiang Chinese Medical UniversityHangzhou 310053Zhejiang ProvinceChina Department of Gastroenterology The Second Affiliated Hospital of Zhejiang Chinese Medical UniversityHangzhou 310005Zhejiang ProvinceChina Department of Pathology The Second Affiliated Hospital of Zhejiang Chinese Medical UniversityHangzhou 310005Zhejiang ProvinceChina

BACKGROUND Solitary hamartomatous polyps(SHPs)are rare *** full-thickness resection(EFTR)is a highly efficient and minimally invasive endoscopic procedure that benefits from complete lesion removal and high *** SUMMARY A 47-year-old man was admitted to our hospital after experiencing hypogastric pain and constipation for over fifteen *** tomography and endoscopy revealed a giant pedunculated polyp(approximately 18 cm long)in the descending and sigmoid *** is the largest SHP reported to *** considered the condition of the patient and mass growth,the polyp was removed using *** On the basis of clinical and pathological evaluations,the mass was considered an SHP.

关键词： Solitary hamartomatous polyp Endoscopic full-thickness resection Diagnosis Treatment Descending colon Case report

GCRV NS38 counteracts SVCV proliferation by intracellular antagonization during co-infection

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Virologica Sinica 2023年第1期38卷 142-156页

作者： Zhuo-Cong Li Long-Feng Lu Can Zhang Xue-Li Wang Jin-Feng Tong Ke-Jia Han dan-dan chen Xi-Yin Li Li Zhou Jian-Fang Gui Shun Li Institute of Hydrobiology Chinese Academy of SciencesWuhan430072China University of Chinese Academy of Sciences Beijing100049China State Key Laboratory of Freshwater Ecology and Biotechnology Hubei Hongshan LaboratoryThe Innovation Academy of Seed DesignInstitute of HydrobiologyChinese Academy of SciencesWuhan430072China College of Fisheries and Life Science Dalian Ocean UniversityDalian116023China

Viral co-infection has been found in animals;however,the mechanisms of co-infection are *** abundance and diversity of viruses in water make fish highly susceptible to ***,we reported a coinfection in fish,which resulted in reduced host lethality and illustrated the intracellular molecular mechanism of viral *** spring viremia of carp virus(SVCV)is a highly lethal virus that infects Cyprinidae,such as *** mortality of SVCV infection was significantly reduced when co-infected with the grass carp reovirus(GCRV).The severity of tissue damage and viral proliferation of SVCV was also reduced in co-infection with *** transcriptome bioinformatics analysis demonstrated that the effect on the host transcripts in response to SVCV infection was significantly reduced in *** excluding the extracellular interactions of these two viruses,the intracellular mechanisms were *** found that the GCRV NS38 remarkably decreased SVCV infection and viral *** interaction between GCRV NS38 and SVCV nucleoprotein(N)and phosphoprotein(P)proteins was identified,and NS38 downregulated both N and P *** analysis demonstrated that the N protein was degraded by NS38 indispensable of the autophagy receptor,sequestosome 1(p62).Meanwhile,K63-linked ubiquitination of the P protein was reduced by NS38,leading to ubiquitinated degradation of the P *** results reveal that the intracellular viral protein interactions are a crucial mechanism of co-infection and influence the host pathology and expand our understanding in intracellular viral interactions co-infection.

关键词： Co-infection Spring viremia of carp virus(SVCV) Grass carp reovirus(GCRV) Antagonize Autophagy Ubiquitination

Effectiveness and safety of acupuncture on cancer pain: a meta-analysis

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TMR Integrative Medicine 2020年第19期4卷 1-12页

作者： Xian-Bing Hou dan-dan chen Fenghua Hospital of Traditional Chinese Medicine Ningbo 315500China

Objective:The aim of the study was to evaluate the efficacy of acupuncture combined with opiates in the treatment of cancer pain through the meta-analysis ***:China national knowledge infrastructure and VIP Database for Chinese technical periodicals,China Biology Medicine,PubMed,Embase databases were searched from January 2016 to February 8,2020 for the randomized controlled trials on the effects of acupuncture combined with opiates on cancer ***-analysis of ordered data was performed using Stata-MP64 and Review Manager 5.3 ***:A total of 242 Chinese studies and 25 English studies were *** to the inclusion and exclusion criteria,19 literatures finally were *** fixed effect model was used to combine the total effect values,and the combined odds ratio(OR)(95%confidence interval(CI))was 2.981(2.384,3.729),suggesting that acupuncture combined with opiates was better than opiates alone in treating cancer pain(Z=9.57,P<0.05);the combination treatment could improve Karnofsky Performance Status score(Z=2.48,P=0.01),decrease Numerical Rating Scale score(Z=2.89,P=0.004);it also could reduce eruption pain frequency(Z=4.32,P<0.0001),improve the effects time(Z=2.51,P=0.01),and extend analgesia duration(Z=4.33,P<0.0001);the combination group also had lower Oxycodone dose than the control group(Z=3.193,P=0.001).At the same time,the incidence of adverse reactions was lower than that of the opiate treatment group alone,with a OR(95%CI)of 0.27(0.19,0.37)and statistical significance,Z=8.06,P<***:Acupuncture combined with opioids for cancer pain is superior to opioids alone with a lower incidence of adverse reactions.

关键词： Acupuncture Opioid Eruption pain frequency Analgesia duration Cancer pain Meta-analysis

Effects of 15-deoxy-△12,14-prostaglandin J2 on cell proliferation and apoptosis in ECV304 endothelial cells

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Acta Pharmacologica Sinica 2004年第1期 49-55页

作者： Yu-gang DONG, dan-dan chen, Jian-gui HE, Yong-yuan GUANDepartment of Cardiology, First Affiliated Hospital, Zhongshan University, Guangzhou 510080 Department of Pathology, Medical College of Zhongshan University, Guangzhou 510089, China

AIM: To investigate the effects of 15-deoxy-△12,14-prostaglandin J2 (15d-PGJ2) on cell proliferation and apoptosis in ECV304 endothelial cells and related molecular mechanism. METHODS: MTT, Hoechst33258, TUNEL, Flow cytometry, DNA ladder, RT-PCR, Western blot, and electrophoretic mobility shift assay (EMSA) analysis were employed. RESULTS: The 15d-PGJ2 induced apoptosis in ECV304 endothelial cells in a dose-dependent manner (the percentage of apoptosis was enhanced from 10.0 %±1.3 % to 32.8 %±1.6 %), which was accompanied

关键词： peroxisome proliferator-activated receptor atherosclerosis endothelial cells apoptosis transcription factor AP-1 NF-kappa B prostaglandins

Fish herpesvirus KLP manipulates Beclin1 to selectively degrade MITA through a precise autophagic manner for immune evasion

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Water Biology and Security 2023年第1期2卷 59-71页

作者： Long-Feng Lu Zhuo-Cong Li Xiao-Yu Zhou Can Zhang cheng-Yan Mou Xue-Li Wang dan-dan chen Li Zhou Jian-Fang Gui Shun Li Institute of Hydrobiology Chinese Academy of SciencesWuhan430072China University of Chinese Academy of Sciences Beijing100049China State Key Laboratory of Freshwater Ecology and Biotechnology Hubei Hongshan LaboratoryThe Innovative Academy of Seed DesignInstitute of HydrobiologyChinese Academy of SciencesWuhan430072China College of Fisheries and Life Science Dalian Ocean UniversityDalian116023China

Control of host autophagy acceleration or attenuation has been confirmed in multiple terrestrial animal *** is known about such mechanisms in aquatic ***,we report a selective and ingenious autophagy modulation regulated by kinase-like protein(KLP)of cyprinid herpesvirus 2(CyHV2)to restrict interferon(IFN)production by degrading IFN regulatory factor(IRF)3 activation(MITA).First,exogenous DNA and RNAmediated IFN activation were both abrogated by CyHV2 *** common intersection point of MITA with these two signaling pathways was the interaction with *** C terminus of MITA was indispensable for the interaction and was recruited by KLP in subcellular colocalization ***,we found that KLP degraded MITA in an autophagy-lysosome-dependent manner and,interestingly,individual KLP could not launch host autophagic flow except in the presence of *** was also colocalized with the autophagy components Beclin1 and ATG14 and enhanced Beclin1 stability,but not ATG14,through K63-linked ***,KLP significantly decreased the normal state or MITA-enhanced cellular antiviral *** data demonstrated an elaborate autophagic process manipulated by a fish virus only in the presence of the host target,illuminating a mechanism of aquatic viral immune evasion.

关键词： CyHV2 KLP MITA Autophagy Beclin1

The emerging role of nitric oxide in the synaptic dysfunction of vascular dementia

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Neural Regeneration Research 2025年第2期20卷 402-415页

作者： Xiaorong Zhang Zhiying chen Yinyi Xiong Qin Zhou Ling-Qiang Zhu dan Liu Department of Pathology Affiliated Hospital of Jiujiang UniversityJiujiangJiangxi ProvinceChina Jiujiang Clinical Precision Medicine Research Center JiujiangJiangxi ProvinceChina Center for Cognitive Science and Transdisciplinary Studies Jiujiang UniversityJiangxi ProvinceChina Department of Neurology Affiliated Hospital of Jiujiang UniversityJiujiangJiangxi ProvinceChina Department of Rehabilitation Affiliated Hospital of Jiujiang UniversityJiujiangJiangxi ProvinceChina Department of Pathophysiology School of Basic MedicineTongji Medical CollegeHuazhong University of Science and TechnologyWuhanHubei ProvinceChina

With an increase in global aging,the number of people affected by cerebrovascular diseases is also increasing,and the incidence of vascular dementia-closely related to cerebrovascular risk-is increasing at an epidemic ***,few therapeutic options exist that can markedly improve the cognitive impairment and prognosis of vascular dementia *** in Alzheimer’s disease and other neurological disorders,synaptic dysfunction is recognized as the main reason for cognitive *** oxide is one of the ubiquitous gaseous cellular messengers involved in multiple physiological and pathological processes of the central nervous ***,nitric oxide has been implicated in regulating synaptic plasticity and plays an important role in the pathogenesis of vascular *** review introduces in detail the emerging role of nitric oxide in physiological and pathological states of vascular dementia and summarizes the diverse effects of nitric oxide on different aspects of synaptic dysfunction,neuroinflammation,oxidative stress,and blood-brain barrier dysfunction that underlie the progress of vascular ***,we propose that targeting the nitric oxide-sGC-cGMP pathway using certain specific approaches may provide a novel therapeutic strategy for vascular dementia.

关键词： endoplasmic reticulum stress endothelial nitric oxide synthase gene therapy nitric oxide NO-sGC-cGMP pathway synaptic dysfunction vascular dementia

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