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Variable phenotypes and outcomes associated with the MMACHC c.482G>A mutation:follow-up in a large CblC disease cohort

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World Journal of Pediatrics 2024年第8期20卷 848-858页

作者： Sheng-Nan Wu hui-Shu E Yue Yu Shi-Ying Ling Li-Li Liang wen-Juan Qiu hui-wen zhang Rui-Xue Shuai Hai-Yan Wei Chi-Ju Yang Peng Xu Xi-Gui Chen hui Zou Ji-Zhen Feng Ting-Ting Niu Hai-Li Hu Kai-Chuang zhang De-Yun Lu Zhu-wen Gong Xia Zhan wen-Jun Ji Xue-Fan Gu Yong-Xing Chen Lian-Shu Han Department of Endocrinology and Metabolism Henan Key Laboratory of Children’s Genetics and Metabolic DiseasesChildren’s Hospital Affiliated to Zhengzhou UniversityHenan Children’s HospitalZhengzhou Children’s HospitalNo.255 Gangdu StreetZhengzhouChina Department of Pediatric Endocrinology and Genetics Fujian Children’s HospitalFuzhouChina The Center for Pediatric Liver Diseases Children’s HospitalFudan UniversityShanghaiChina Department of Pediatric Endocrinology/Genetics Shanghai Institute for Pediatric ResearchXinhua HospitalSchool of MedicineShanghai Jiao Tong UniversityNo.1665 Kongjiang RoadShanghaiChina Department of Pediatrics Second Affiliated Hospital of Naval Medical UniversityShanghaiChina Center of Neonatal Disease Screening Jining Maternal and Child Health Care HospitalJiningChina Center of Neonatal Disease Screening Jinan Maternal and Child Health Care HospitalJinanChina Center of Neonatal Disease Screening Shijiazhuang Maternal and Child Health Care HospitalShijiazhuangChina Center of Neonatal Disease Screening Shandong Maternal and Child Health Care HospitalJinanChina Center of Neonatal Disease Screening Hefei Maternal and Child Health Care HospitalHefeiChina

Background The aim of this study was to characterize the variable phenotypes and outcomes associated with the methylmalonic aciduria and homocystinuria type C protein gene(MMACHC)c.482G>A mutation in 195 Chinese cases with CblC *** We carried out a national,retrospective multicenter study of 195 Chinese patients with CblC disease attributable to the MMACHC c.482G>A variant either in a homozygous or compound heterozygous *** control group consisted of 200 patients diagnosed with CblC disease who did not possess the c.482G>A *** features,including disease onset,symptoms,biochemical metabolites,gene mutation,and follow-up outcomes were reviewed and analyzed in *** median follow-up period spanned 3 years and 8 months,with a range of 1 year and 2 months to 12 years and 10 *** Among 195 patients carrying the c.482G>A variant,125(64.1%)cases were diagnosed by newborn screening(NBS),60(30.8%)cases were detected due to disease onset,and 10(5.1%)cases were identified from sibling *** hundred and seventeen(93.6%)individuals who were diagnosed by NBS,and nine patients who came from sibling diagnoses remained asymptomatic in this *** 69 symptomatic patients of the c.482G>A group,more patients presented with later onset,and the top six common clinical symptoms at disease onset were developmental delay(59.4%),lower limb weakness and poor exercise tolerance(50.7%),cognitive decline(37.7%),gait instability and abnormal posture(36.2%),seizures(26.1%),and psychiatric and behavioral disturbances(24.6%).In the 159 symptomatic patients lacking c.482G>A variants,the most frequently observed clinical manifestations at disease onset included developmental delay(81.8%),lethargy and feeding difficulty(62.9%),lower limb weakness and poor exercise tolerance(54.7%),prolonged neonatal jaundice(51.6%),vomiting(47.2%),and seizures(32.7%).Before treatment,the levels of blood propionylcarnitine,propionylcarnitine/acetylcarnitine ratio

关键词： c.482G>A CblC disease MMACHC gene Newborn screening Outcome Use our pre-submission checklist Avoid common mistakes on your manuscript.

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Stepped-up development of accelerator mass spectrometry method for the detection of ^(60)Fe with the HI-13 tandem accelerator

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Nuclear Science and Techniques 2024年第4期35卷 136-143页

作者： Yang zhang Sheng-Quan Yan Ming He Qing-zhang Zhao wen-hui zhang Chao-Xin Kan Jian-Ming Zhou Kang-Ning Li Xiao-Fei Wang Jian-Cheng Liu Zhao-Hua Peng Zhuo Liang Ai-Ling Li Jian Zheng Qi-wen Fan Yun-Ju Li You-Bao Wang Zhi-Hong Li Yang-Ping Shen Ding Nan Wei Nan Yu-Qiang zhang Jia-Ying-Hao Li Jun-wen Tian Jiang-Lin Hou Chang-Xin Guo Zhi-Cheng zhang Ming-Hao Zhu Yu-wen Chen Yu-Chen Jiang Tao Tian Jin-Long Ma Yi-hui Liu Jing-Yu Dong Run-Long Liu Mei-Yue-Nan Ma Yong-Shou Chen Wei-Ping Liu Bing Guo China Institute of Atomic Energy P.O.Box 275(10)Beijing 102413China College of Science Southern University of Science and TechnologyShenzhen 518055China School of Physics Xi’an Jiaotong UniversityXi’an 710049China

The Moon provides a unique environment for investigating nearby astrophysical events such as *** samples retain valuable information from these events,via detectable long-lived“fingerprint”radionuclides such as^(60)*** this work,we stepped up the development of an accelerator mass spectrometry(AMS)method for detecting^(60)Fe using the HI-13tandem accelerator at the China Institute of Atomic Energy(CIAE).Since interferences could not be sufficiently removed solely with the existing magnetic systems of the tandem accelerator and the following Q3D magnetic spectrograph,a Wien filter with a maximum voltage of±60 kV and a maximum magnetic field of 0.3 T was installed after the accelerator magnetic systems to lower the detection background for the low abundance nuclide^(60)Fe.A 1μm thick Si_(3)N_(4) foil was installed in front of the Q3D as an energy *** particle detection,a multi-anode gas ionization chamber was mounted at the center of the focal plane of the ***,an^(60)Fe sample with an abundance of 1.125×10^(-10)was used to test the new AMS *** results indicate that^(60)Fe can be clearly distinguished from the isobar^(60)*** sensitivity was assessed to be better than 4.3×10^(-14)based on blank sample measurements lasting 5.8 h,and the sensitivity could,in principle,be expected to be approximately 2.5×10^(-15)when the data were accumulated for 100 h,which is feasible for future lunar sample measurements because the main contaminants were sufficiently separated.

关键词： Accelerator mass spectrometry Wien filter Isobar separation Supernovae Chang'e-5 lunar samples

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Preoperative systemic inflammatory response index as a prognostic marker for distal cholangiocarcinoma after pancreatoduodenectomy

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World Journal of Gastrointestinal Surgery 2024年第9期16卷 2910-2924页

作者： wen-hui zhang Yu Zhao Cheng-Run zhang Jin-Can Huang Shao-Cheng Lyu Ren Lang Department of Hepatobiliary Surgery Beijing Chao-Yang Hospital Affiliated to Capital Medical UniversityBeijing 100020China Department of Urology Surgery Beijing Chao-Yang Hospital Affiliated to Capital Medical UniversityBeijing 100020China

BACKGROUND The relationship between preoperative inflammation status and tumorigenesis as well as tumor progression is widely *** To assess the prognostic significance of preoperative inflammatory biomarkers in patients with distal cholangiocarcinoma(dCCA)who underwent pancreat-oduodenectomy(PD).METHODS This single-center study included 216 patients with dCCA after PD between January 1,2011,and December 31,*** individuals were categorized into two sets based on their systemic inflammatory response index(SIRI)levels:A low SIRI group(SIRI<1.5,n=123)and a high SIRI group(SIRI≥1.5,n=93).Inflam-matory biomarkers were evaluated for predictive accuracy using receiver operating characteristic *** univariate and multivariate Cox proportional hazards analyses were performed to estimate SIRI for overall survival(OS)and recurrence-free survival(RFS).RESULTS The study included a total of 216 patients,with 58.3%being male and a mean age of 65.6±9.6 years.123 patients were in the low SIRI group and 93 were in the high SIRI group after PD for *** had an area under the curve value of 0.674 for diagnosing dCCA,showing better performance than other inflammatory *** analysis indicated that having a SIRI greater than 1.5 independently increased the risk of dCCA following PD,leading to lower OS[hazard ratios(HR)=1.868,P=0.006]and RFS(HR=0.949,P<0.001).Additionally,survival analysis indicated a significantly better prognosis for patients in the low SIRI group(P<0.001).CONCLUSION It is determined that a high SIRI before surgery is a significant risk factor for dCCA after PD.

关键词： Distal cholangiocarcinoma Pancreatoduodenectomy Biomarker Systemic inflammatory response index Prognosis

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Principal Quasi-Baerness of Formal Power Series Rings

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Acta Mathematica Sinica,English Series 2010年第11期26卷 2231-2238页

作者： Zhong Kui LIU wen hui zhang Department of Mathematics Northwest Normal University Lanzhou 730070 P. R. China

Let R be a ring. We consider left （or right） principal quasi-Baerness of the left skew formal power series ring R[[x;α]] over R where a is a ring automorphism of R. We give a necessary and sufficient condition under which the ring R[[x; α]] is left （or right） principally quasi-Baer. As an application we show that R[[x]] is left principally quasi-Baer if and only if R is left principally quasi- Baer and the left annihilator of the left ideal generated by any countable family of idempotents in R is generated by an idempotent.

关键词： Left principally quasi-Baer ring skew power series ring right semicentral idempotent

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Effects of cilostazol on the progression and regression of symptomatic intracranial artery stenosis:it reduces the risk of ischemic stroke

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Neural Regeneration Research 2015年第4期10卷 667-672页

作者： wen-hui zhang Fang-fang Cai Zhong-min wen Department of Neurology Second Affiliated Hospital of Soochow University

OBJeCTIve：To assess the efifcacy and safety of cilostazol on the progression and regression of symptomatic intracranial artery stenosis. DATA ReTRIvAL： We searched the main databases for eligible trials including Medline （from 1966 to June 2014）, Embase （from 1980 to June 2014）, Cochrane Library （Issue 6, 2014）, Chinese National Knowledge Infrastructure （from 1995 to June 2014）, Current Controlled Trials （http：//***）, Clinical *** （http：//***）, and Chinese Clinical Trial Registry （http：//***）. All studies regarding prevention and treatment of symptomatic intracranial arterial stenosis by cilostazol were collected. The Mesh or text keywords were the En-glish words： “cilostazol, phosphodiesterase 3 inhibitor, atherosclerosis, and ischemic stroke.” No restrictions were put on publications or publication language. SeLeCTION CRITeRIA：Grade A or B randomized controlled trials were selected according to the quality of evaluation criteria from the Cochrane Collaboration, in which cilostazol and aspi-rin were used to evaluate the effects of cilostazol in the treatment of patients with symptomatic intracranial artery stenosis. The quality of study methodology was evaluated based on criteria de-scribed in Cochrane Reviewer’s Handbook 5.0.1. RevMan 5.2 software was used for data analysis. MAIN OUTCOMe MeASUReS： Clinical efifcacy and safety of cilostazol in stopping progression and promoting regression of symptomatic intracranial artery stenosis were measured by magnet-ic resonance angiography and transcranial Doppler. ReSULTS：Two randomized controlled trials with a total of 203 patients were included in this study. The results showed that while cilostazol was associated with a significantly reduced progression of intracranial artery stenosis （OR = 0.21, 95%CI： 0.09–0.47,P 〈 0.01）, it had no beneifcial effect on symptom regression （OR = 1.42, 95%CI： 0.80–2.51,P = 0.24）. During the follow-up period, although some adverse effects

关键词： nerve regeneration systemic review cilostazol atherosclerosis aspirin stroke,ischemic magnetic resonance angiography transcranial Doppler intracranial artery stenosis follow-up studies neural regeneration

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Rare earth element-doped porous In_(2)O_(3) nanosheets for enhanced gas-sensing performance

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Rare Metals 2021年第6期40卷 1662-1668页

作者： wen-hui zhang Su-Jun Ding Qing-Song zhang hui Yi Zi-Xiang Liu Meng-Li Shi Kong-Feng Guan Lu Yue Key Laboratory for Advanced Technology in Environmental Protection of Jiangsu Province Yancheng Institute of TechnologyYancheng 224051China

Rare earth(La,Pr,Sm,Ce and Yb)-doped porous In_(2)O_(3) nanosheets are prepared by a solvothermal *** effect of rare earth elements on the structure,morphologies and gas-sensing performance of In_(2)O_(3) nanosheets is systematically *** mixed phase composed of c-In_(2)O_(3) and rh-In_(2)O_(3) can be transformed into rh-In_(2)O_(3) by doping with rare earth *** doping with rare earth elements,the morphology can be changed from compact nanosheets to porous *** with pure In_(2)O_(3) and La,Pr,Sm,Ce-doped porous In_(2)O_(3) nanosheets,Yb-doped In_(2)O_(3) nanosheets present the best gas-sensing *** 3%-10%Yb-doped samples,6%Yb-doped In_(2)O_(3) porous nanosheets exhibit the optimal gas-sensing performance to 5×10^(-6)-750×10^(-6) acetone,giving a high response of 15.3 toward 50×10^(-6) acetone and fast response/recovery time at the operating temperature of 220℃.Moreover,6% Yb-doped porous In_(2)O_(3) nanosheet sensor also exhibits excellent selectivity and stability,indicating its potential in the nextgeneration gas sensor.

关键词： In_(2)O_(3) Doping Rare earth elements Gas sensor Acetone

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Inflammatory mechanism in ischemic neuronal injury

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Neuroscience Bulletin 2006年第3期22卷 171-182页

作者： Ya-Dan wen hui-Ling zhang Zheng-Hong QIN Department of Pharmacology Soochow University School of Medicine Suzhou 215123 China

Inflammation has been implicated as a secondary mechanism underlying neuronal injury induced by ischemia. A variety of experimental models, including thromboembolic stroke, focal and global ischemia, have been used to evaluate contributions of inflammation to neuronal damage. The vasculature endothelium promotes inflammation through upregulation of adhesion molecules such as intercellular adhesion molecule （ICAM）, E-selectin, and P-selectin that bind to circulating leukocytes and facilitate migration of leukocytes into the central nervous system （CNS）. Once being in the CNS, leukocytes produce cytotoxic molecules that promote cell death. The response of macrophages and microglia to injury may either be beneficial by scavenging necrotic debris or be detrimental by facilitating cell death of neurons that would otherwise recover. While many studies have tested these hypotheses, the significance of inflammation in stroke models is inconclusive. This review summarizes data regarding roles of cell adhesion molecules, astrocytes, microglia and leukocytes in stroke.

关键词： ischemic stroke inflammation cell adhesion molecules astrocytes microglia NF-kB leukocytes

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Cultivated Cordyceps: A Tale of Two Treasured Mushrooms

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Chinese Medicine and Culture 2021年第4期4卷 221-227页

作者： Anawinla Ta Anyu wen-hui zhang Qi-He Xu GKT School of Medical Education King’s College LondonLondon WC2R 2LS School of Pharmacy Shanghai University of Traditional Chinese MedicineShanghai 201203China Engineering Research Center of Shanghai Colleges for TCM New Drug Discovery Shanghai 201203China Renal Sciences and Integrative Chinese Medicine Laboratory Department of Inflammation BiologySchool of Immunology and Microbial SciencesFaculty of Life Sciences and MedicineWeston Education CentreKing’s College LondonLondon SE59RJUK

Ophiocordyceps sinensis and Cordyceps militaris both contain many bioactive compounds that confer potential therapeutic benefits. This review discusses the possible use of cultivated C. militaris as an effective substitute for native O. sinensis in the face of ever-increasing prices of O. sinensis because of its short supply. On the one hand, cultivated C. militaris contains higher levels of cordycepin when compared with that of wild-type O. sinensis and cultivation of C. militaris has been shown to be capable of reducing the risk of heavy metal contamination. On the other hand, there is a paucity of robust in vivo studies and randomized controlled tests comparing the pharmacology and use of C. militaris and O. sinensis. For extraction of cordycepin as western-style tablets, the use of cultivated C. militaris rather than O. sinensis represents the most appropriate future approach. For many other purposes, comparative pharmacology and clinical trials are in urgent needs.

关键词： Cordycepin cordyceps militaris ophiocordyceps sinensis

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A case of COVID-19 complicated by massive gastrointestinal bleeding

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Gastroenterology Report 2021年第1期9卷 85-87,I0003页

作者： Yan-Ling Wang Jin-Song Mu Xiao-Bao Qi wen-hui zhang Liver Cirrhosis Diagnosis and Treatment Center 5th Medical Center of PLA General Hospital of ChinaBeijingP.R.China Intensive Care Unit 5th Medical Center of PLA General Hospital of ChinaBeijingP.R.China

The coronavirus disease 2019(COVID-19)outbreak that was first reported in Wuhan,China has spread globally,causing unprecedented health and economic damage[1].Although its clinical manifestations are mainly fever and respiratory symptoms,in some cases,gastrointestinal(GI)symptoms were the first manifestations[2].Here we present a case of an elderly patient with COVID-19 who developed massive GI bleeding during treatment.

关键词：胃肠道出血 respiratory clinical

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Clinical features and mutations in seven Chinese patients with very long chain acyl-CoA dehydrogenase deficiency

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World Journal of Pediatrics 2014年第2期10卷 119-125页

作者： Rui-Nan zhang Yi-Fan Li wen-Juan Qiu Jun Ye Lian-Shu Han hui-wen zhang Na Lin Xue-Fan Gu Department of Pediatric Endocrinology and Genetic Metabolism and Shanghai Institute for Pediatric Research Xinhua HospitalShanghai Jiaotong University School of MedicineShanghai 200092China

Background:Very long chain acyl-CoA dehydrogenase deficiency(VLCADD)is an inherited metabolic disease caused by deleterious mutations in the ACADVL gene that encodes very long chain acyl-CoA dehydrogenase(VLCAD),and which can present as cardiomyopathy in neonates,as hypoketotic hypoglycemia in infancy,and as myopathy in late-onset *** many ACADVL mutations have been described,no prevalent mutations in the ACADVL gene have been associated with ***,we report the clinical course of the disease and explore the genetic mutation spectrum in seven Chinese patients with ***:Seven Chinese patients,from newborn to 17 years old,were included in this *** mass spectrometry was performed to screen for VLCAD defi *** exons and fl anking introns of the ACADVL gene were analyzed using polymerase chain reaction and direct *** analysis tools were used to predict the impact of novel ***:All cases had elevated serum levels of tetradecanoylcarnitine(C14:1)which is the characteristic biomarker for *** phenotype of VLCADD is *** patients were hospitalized for hypoactivity and hypoglycemia shortly after *** patients showed hepatomegaly and hypoglycemia in *** other two adolescent patients showed initial manifestations of exercise intolerance or *** of the patients died at the age of 6-8 *** different mutations in the ACADVL gene in the 7 patients were identified,including seven reported mutations(p.S22X,p.W427X,p.A213T,p.G222R,p.R450H,c.296-297delCA,c.1605+1G>T)and four novel mutations(p.S72F,p.Q100X,p.M437T,p.D466Y).The p.R450H and p.D466Y(14.28%,2/14 alleles)mutations were identifi ed in two alleles ***:The clinical manifestations were heterogeneous and ACADVL gene mutations were heterozygous in the seven VLCADD Chinese patients.R450H may be a relatively common mutation in Asian *** genotype and phenotype had a cert

关键词： follow-up mutation very long chain acyl-CoA dehydrogenase VLCAD deficiency treatment

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