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Current Medical Science 2024年第2期44卷 426-434页

作者： Bi-xin XI si-ying liu Yu-ting XU De-dong ZHANG Qun HU Ai-guo liu Department of Pediatrics Tongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430030China

Objective:Glucose-6-phosphate isomerase(GPI)deficiency is a rare hereditary nonspherocytic hemolytic anemia caused by GPI gene *** disorder exhibits wide heterogeneity in its clinical manifestations and molecular characteristics,often posing challenges for precise diagnoses using conventional *** this end,this study aimed to identify the novel variants responsible for GPI deficiency in a Chinese ***:The clinical manifestations of the patient were summarized and analyzed for GPI deficiency phenotype *** compound heterozygous variants of the GPI gene,c.174C>A(***58Lys)and c.1538G>T(***513Leu),were identified using whole-exome and Sanger *** AlphaFold program and Chimera software were used to analyze the effects of compound heterozygous variants on GPI ***:By characterizing 53 GPI missense/nonsense variants from previous literature and two novel missense variants identified in this study,we found that most variants were located in exons 3,4,12,and 18,with a few localized in exons 8,9,and *** study identified novel compound heterozygous variants associated with GPI *** pathogenic variants disrupt hydrogen bonds formed by highly conserved GPI amino ***:Early family-based sequencing analyses,especially for patients with congenital anemia,can help increase diagnostic accuracy for GPI deficiency,improve child healthcare,and enable genetic counseling.

关键词： glucose-6-phosphate isomerase deficiency whole-exome sequencing compound heterozygous variants genetic characterization hydrogen bond

Uridine diphosphate glucuronosyltransferase 1A1 prevents the progression of liver injury

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World Journal of Gastroenterology 2024年第9期30卷 1189-1212页

作者： Jin-Lian Jiang Yi-Yang Zhou Wei-Wei Zhong Lin-Yan Luo si-ying liu Xiao-Yu Xie Mao-Yuan Mu Zhi-Gang Jiang Yuan Xue Jian Zhang Yi-Huai He Department of Infectious Diseases Affiliated Hospital of Zunyi Medical UniversityZunyi 563000Guizhou ProvinceChina Department of Infectious Diseases Jingmen Central HospitalJingmen 448000Hubei ProvinceChina Department of Respiratory Medicine Anshun People’s HospitalAnshun 561099Guizhou ProvinceChina Department of General Practice Affiliated Hospital of Zunyi Medical UniversityZunyi 563000Guizhou ProvinceChina Department of Intervention Radiology Affiliated Hospital of Zunyi Medical UniversityZunyi 563000Guizhou ProvinceChina School of Public Health Zunyi Medical UniversityZunyi 563099Guizhou ProvinceChina Department of Liver Diseases Third People’s Hospital of ChangzhouChangzhou 213000Jiangsu ProvinceChina Department of Digestion Dafang County People’s HospitalBijie 551600Guizhou ProvinceChina

BACKGROUND Uridine diphosphate glucuronosyltransferase 1A1(UGT1A1)plays a crucial role in metabolizing and detoxifying endogenous and exogenous ***,its contribution to the progression of liver damage remains *** To determine the role and mechanism of UGT1A1 in liver damage *** We investigated the relationship between UGT1A1 expression and liver injury through clinical ***,the impact and mechanism of UGT1A1 on the progression of liver injury was analyzed through a mouse model *** Patients with UGT1A1 gene mutations showed varying degrees of liver damage,while patients with acute-onchronic liver failure(ACLF)exhibited relatively reduced levels of UGT1A1 protein in the liver as compared to patients with chronic *** suggests that low UGT1A1 levels may be associated with the progression of liver *** mouse models of liver injury induced by carbon tetrachloride(CCl_(4))and concanavalin A(ConA),the hepatic levels of UGT1A1 protein were found to be *** mice with lipopolysaccharide or liver steatosis-mediated liver-injury progression,the hepatic protein levels of UGT1A1 were decreased,which is consistent with the observations in patients with ***1A1 knockout exacerbated CCl_(4)-and ConA-induced liver injury,hepatocyte apoptosis and necroptosis in mice,intensified hepatocyte endoplasmic reticulum(ER)stress and oxidative stress,and disrupted lipid *** UGT1A1 is upregulated as a compensatory response during liver injury,and interference with this upregulation process may worsen liver ***1A1 reduces ER stress,oxidative stress,and lipid metabolism disorder,thereby mitigating hepatocyte apoptosis and necroptosis.

关键词： Uridine diphosphate glucuronosyltransferase 1A1 Liver injury progression Endoplasmic reticulum stress Oxidative stress Lipid metabolism disorders

Ursodeoxycholic acid prevention on cholestasis associated with total parenteral nutrition in preterm infants:a randomized trial

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World Journal of Pediatrics 2022年第2期18卷 100-108页

作者： si-ying liu Li-Wen Chang Jing Wang Min Xie Lei-Lei Chen Wei liu Department of Pediatrics Tongji HospitalTongji Medical CollegeHuazhong University of Science and Technology1095 Jiefang AvenueWuhan 430030HubeiChina

Background Preterm infants with long-term parenteral nutrition(PN)therapy are at risk for cholestasis associated with total parenteral nutrition(PNAC).This study examined the safety and efficacy of ursodeoxycholic acid(UDCA)in preventing PNAC in preterm *** research aimed to investigate the prophylactic effect of preventive oral UDCA on PNAC in preterm *** We compared oral administration of UDCA prophylaxis with no prophylaxis in a randomized,open-label,proof-of-concept trial in preterm neonates with PN *** low-birth-weight preterm infants(sive care unit(NICU)within 24 hours after birth were *** main endpoint was the weekly values of direct bilirubin(DB)of neonates during the NICU *** Eventually,a total of 102 preterm neonates from January 2021 to July 2021 were enrolled in this prospective study(42 in the UDCA group and 60 in the control group).Notably,the peak serum level of DB[13.0(12-16)vs.15.2(12.5-19.6)μmol/L,Psignificantly lower in the UDCA group than that in the control group without *** peak serum level of total bilirubin(101.1±34 vs.116.5±28.7μmol/L,Psignificantly lower in the UDCA group than in the control ***,the proportion of patients who suffered from neonatal cholestasis(0.0%vs.11.7%,Psignificantly *** UDCA prophylaxis is beneficial in preventing PNAC in NICU infants receiving prolonged PN.

关键词： Cholestasis Parenteral nutrition Preterm infant Ursodeoxycholic acid

Dynamical switchable quantum nonreciprocity induced by off-resonant chiral two-photon driving

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Science China(Physics,Mechanics & Astronomy) 2024年第6期67卷 31-37页

作者： Da-Wei liu Zi-Hao Li Shi-Lei Chao ying Wu liu-Gang si School of Physics and Institute for Quantum Science and Engineering Huazhong University of Science and TechnologyWuhan 430074China

Optical nonreciprocity,which refers to the direction-dependent emission,scattering and absorption of photons,plays a very important role in quantum engineering and quantum information ***,we propose an all-optical approach to achieve the optical dynamical switchable quantum nonreciprocity by an off-resonant chiral two-photon driving in a single microring cavity,which differs from the conventional nonreciprocal *** is shown that the optical field with time-dependent statistical properties can be generated and the nonreciprocity flips periodically,with switchable photon blockade and photon-induced tunneling *** find that the dynamical system is robust and immune to the parameter variations,which loosens the parameter range of ***,the time window for one-way quantum information is sufficiently wide and *** work opens a new idea for the current quantum nonreciprocal research,which can facilitate a memory functionality and be used for future inmemory superconducting quantum *** other nonreciprocal quantum devices,i.e.,dynamical switchable nonreciprocal squeezing and entanglement,may be inspired by our method,which is expected to have important applications in future quantum technology.

关键词： dynamical switchable nonreciprocity single-photon source chiral two-photon driving

Cordyceps as potential therapeutic agents for atherosclerosis

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Journal of Integrative Medicine 2024年第2期22卷 102-114页

作者： Yi Zhang si-jing liu School of Marxism Chengdu University of Traditional Chinese MedicineChengdu 61137Sichuan ProvinceChina College of Medical Technology Chengdu University of Traditional Chinese MedicineChengdu 611137Sichuan ProvinceChina Chongqing Key Laboratory of sichuan-Chongqing Co-construction for Diagnosis and Treatment of Infectious Diseases with Integrated Chinese and Western Medicine Chengdu University of Traditional Chinese MedicineChengdu 611137Sichuan ProvinceChina

Atherosclerosis is a leading cause of mortality and morbidity *** the challenges in managing atherosclerosis,researchers continue to investigate new treatments and complementary *** is a traditional Chinese medicine that has recently gained attention as a potential therapeutic agent for *** studies have demonstrated the effectiveness of cordyceps in treating atherosclerosis through various pharmacological actions,including anti-inflammatory and antioxidant activities,lowering cholesterol,inhibiting platelet aggregation,and modulating apoptosis or autophagy in vascular endothelial ***,the current misuse of the terms cordyceps and Ophiocordyceps sinensis has caused confusion among researchers,and complicated the current academic research on *** review focuses on the chemical composition,pharmacological actions,and underlying mechanisms contributing to the anti-atherosclerotic effects of cordyceps and the mycelium of Ophiocordyceps *** review provides a resource for the research on the development of new drugs for atherosclerosis from cordyceps.

关键词： Atherosclerosis Cordyceps Ophiocordyceps sinensis

Intracellular alpha-fetoprotein mitigates hepatocyte apoptosis and necroptosis by inhibiting endoplasmic reticulum stress

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World Journal of Gastroenterology 2022年第26期28卷 3201-3217页

作者： Yun-Fen Chen si-ying liu Qi-Jiao Cheng Yu-Jiao Wang Shuang Chen Yi-Yang Zhou Xia liu Zhi-Gang Jiang Wei-Wei Zhong Yi-Huai He Department of Infectious Diseases The Affiliated Hospital of Zunyi Medical UniversityZunyi 563000Guizhou ProvinceChina Department of General Medicine The Affiliated Hospital of Zunyi Medical UniversityZunyi 563000Guizhou ProvinceChina School of Public Health Zunyi Medical UniversityZunyi 563099Guizhou ProvinceChina Department of Endoscopy Jingmen No.1 People’s HospitalJingmen 448000Hubei ProvinceChina

BACKGROUND Endoplasmic reticulum(ER)stress contributes to the pathogenesis of chronic liver diseases,but how hepatocytes respond to ER stress has not been ***(AFP)is secreted by hepatoma cells and elevated levels of serum AFP are associated with development of liver *** To investigate whether and how AFP could regulate ER stress and hepatocyte *** The distribution of AFP and the degrees of ER stress in liver tissues and liver injury were characterized by histology,immunohistochemistry,and Western blot in biopsied human liver specimens,two mouse models of liver injury and a cellular *** levels of AFP in sera and the supernatants of cultured cells were quantified by *** High levels of intracellular AFP were detected in liver tissues,particularly in the necrotic areas,from patients with chronic liver diseases and mice after carbon tetrachloride(CCl4)administration or induction of ER stress,but not from the *** induced intracellular AFP was accompanied by elevated activating transcription factor-6(ATF6)expression and protein kinase R-like ER kinase(PERK)phosphorylation in mouse *** stress induced AFP expression in LO2 cells and decreased their ***6,but not PERK,silencing mitigated the ER-stress-induced AFP expression in LO2 ***,AFP silencing deteriorated the ER stress-mediated LO2 cell injury and CCl4 administration-induced liver damages by increasing levels of cleaved caspase-3,the C/enhancer binding protein homologous protein expression,mixed lineage kinase domain-like pseudokinase and PERK phosphorylation,but decreasing ATF6 *** ER stress upregulated intra-hepatocyte AFP expression by activating ATF6 during the process of liver injury and intracellular AFP attenuated hepatocyte apoptosis and necroptosis by alleviating ER stress.

关键词： Alpha-fetoprotein Endoplasmic reticulum stress Necroptosis Apoptosis Liver injury

Energy-efficient buffer and service rate allocation in manufacturing systems using hybrid machine learning and evolutionary algorithms

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Advances in Manufacturing 2024年第2期12卷 227-251页

作者： si-Xiao Gao Hui liu Jun Ota Key Laboratory of Traffic Safety on Track of Ministry of Education Institute of Artificial Intelligence and Robotics(IAIR)School of Traffic and Transportation EngineeringCentral South UniversityChangsha410075People’s Republic of China Research into Artifacts Center for Engineering School of EngineeringThe University of TokyoTokyoJapan

Currently,simultaneous buffer and service rate allocation is a topic of interest in the optimization of manufacturing *** allocation problems have been solved previously to satisfy economic requirements;however,owing to the progress of green manufacturing,energy conservation and environmental protection have become increasingly ***,an energy-efficient approach is developed to maximize the throughput and minimize the energy consumption of manufacturing systems,subject to the total buffer capacity,total service rate,and predefined energy *** energy-efficient approach integrates the simulated annealing-non-dominated sorting genetic algorithm-II with the honey badger algorithm-histogram-based gradient boosting regression *** former algorithm searches for Pareto-optimal solutions of sufficient *** latter algorithm builds prediction models to rapidly calculate the throughput,energy consumption,and energy *** examples show that the proposed hybrid approach can achieve a better solution quality compared with previously reported ***,the prediction models can rapidly evaluate manufacturing systems with sufficient *** study benefits the multi-objective optimization of green manufacturing systems.

关键词： Energy-efficient allocation Multi-objective optimization Energy efficiency Energy consumption Machine learning

Two missense STK11 gene variations impaired LKB1/adenosine monophosphate-activated protein kinase signaling in Peutz-Jeghers syndrome

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World Journal of Gastrointestinal Oncology 2024年第4期16卷 1532-1546页

作者： Jin liu si-Cong Zeng An Wang Hai-ying Cheng Qian-Jun Zhang Guang-Xiu Lu Hunan Guangxiu Hospital Hunan Normal UniversityChangsha 410000Hunan ProvinceChina Scientific Research Department Reproductive and Genetic Hospital of Citic-XiangyaChangsha 410000Hunan ProvinceChina

BACKGROUND Peutz-Jeghers syndrome(PJS)is a rare hereditary neoplastic disorder mainly associated with serine/threonine kinase 11(STK11/LKB1)gene *** genetic testing can protect a patient’s offspring from mutated genes;however,some variations in this gene have been interpreted as variants of uncertain significance(VUS),which complicate reproductive decision-making in genetic *** To identify the pathogenicity of two missense variants and provide clinical *** Whole exome gene sequencing and Sanger sequencing were performed on the peripheral blood of patients with PJS treated at the Reproductive and Genetic Hospital of *** was employed to predict the protein structure,conservation,and pathogenicity of the two missense variation sites in patients with ***,plasmids were constructed and transfected into HeLa cells to observe cell *** differences in signal pathway expression between the variant group and the wild-type group were compared using western blot and *** analysis was performed using one-way analysis of variance.Psidered statistically *** We identified two missense STK11 gene VUS[c.889A>G(***297Gly)and c.733C>T(***245Phe)]in 9 unrelated PJS families who were seeking reproductive *** two missense VUS were located in the catalytic domain of serine/threonine kinase,which is a key structure of the liver kinase B1(LKB1)*** vitro experiments showed that the phosphorylation levels of adenosine monophosphate-activated protein kinase(AMPK)at Thr172 and LKB1 at Ser428 were significantly higher in transfected variation-type cells than in wild-type *** addition,the two missense STK11 variants promoted the proliferation of HeLa *** immunohistochemical analysis showed that phosphorylated-AMPK(Thr172)expression was significantly lower in gastric,colonic,and uterine polyps from PJS patients with misse

关键词： Missense STK11 Peutz-Jeghers syndrome Rare disease Genetic counseling Assisted reproductive technique

Immediate Effect of Electro-acupuncture on Endometrial Blood Flow in Patients with Recurrent Implantation Failure:A Randomized Controlled Trial

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Chinese Journal of Integrative Medicine 2024年第4期30卷 291-298页

作者： LAI Yuan-yuan liu Li-ying WU Yong-na HUANG Lei ZHENG Xiao-yan GAN Di YU si-yi ZHONG ying LIANG Fan-rong ZHOU ying YANG Jie Acupuncture and Tuina School Chengdu University of Traditional Chinese MedicineChengdu(610032)China sichuan Jinxin Xi'nan Women's and Children's Hospital Chengdu(610032)China Yuan TCM Wellness Pte.Ltd.(999002) Pulse TCM SingaporeSingapore

Objective To investigate the immediate effects of electro-acupuncture(EA)on endometrial blood flow among recurrent implantation failure(RIF)*** Eighty RIF patients,enrolled from March 2022 to December 2022,were randomly allocated into either the EA group(40 cases)or the waiting-list(WL)group(40 cases)by using a random number *** EA group underwent acupuncture at points of Shenting(GV 24),Baihui(GV 4),Benshen(GB 13),bilateral Zigong(EX-CA 1),Huangshu(KI 16),Sanyinjiao(SP 6)and Xuehai(SP10),and electric acupuncture apparatus was connected to EX-CA 1,KI 16,SP 6,and SP 10 with disperse-dense waves at 4/20 Hz frequencies for 30 min after transvaginal ultrasound,while the WL group received no *** primary outcome measured was the endometrial volume blood *** secondary outcomes included the bilateral uterine artery index,endometrial volume,endometrial blood flow type,vascular distribution index(VI^(MV))for endometrial and ovary,clinical pregnancy rate,and embryo implantation *** In the EA group,there was a notable decrease in the bilateral pulsatility index and a significant improvement in the endometrial blood flow type post-EA(Psignificant disparities were observed in vascular index,flow index,vascular blood flow index,uterine arterial blood flow indices,endometrial volume,clinical pregnancy rate and embryo implantation rate between the two groups after treatment(P>0.05).Besides,no adverse events related to EA were *** EA can promptly ameliorate VI^(MV) for the endometrial and right ovary,and endometrial blood flow *** randomized controlled trials are warranted to investigate the long-term effects of EA on blood flow of RIF patients and its implications for pregnancy outcomes.(Trial registration ***2200057377

关键词： electro-acupuncture recurrent implantation failure transvaginal ultrasound endometrial receptivityanalysis randomized controlledtrial

Clinical applications of metagenomics next-generation sequencing in infectious diseases

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Journal of Zhejiang University-Science B(Biomedicine & Biotechnology) 2024年第6期25卷 471-484页

作者： ying liu Yongjun MA Department of Clinical Laboratory Affiliated Jinhua HospitalZhejiang University School of MedicineJinhua 321000China

Infectious diseases are a great threat to human *** and accurate detection of pathogens is important in the diagnosis and treatment of infectious *** next-generation sequencing(mNGS)is an unbiased and comprehensive approach for detecting all RNA and DNA in a *** the development of sequencing and bioinformatics technologies,mNGS is moving from research to clinical application,which opens a new avenue for pathogen *** studies have revealed good potential for the clinical application of mNGS in infectious diseases,especially in difficult-to-detect,rare,and novel ***,there are several hurdles in the clinical application of mNGS,such as:(1)lack of universal workflow validation and quality assurance;(2)insensitivity to high-host background and low-biomass samples;and(3)lack of standardized instructions for mass data analysis and report ***,a complete understanding of this new technology will help promote the clinical application of mNGS to infectious *** review briefly introduces the history of next-generation sequencing,mainstream sequencing platforms,and mNGS workflow,and discusses the clinical applications of mNGS to infectious diseases and its advantages and disadvantages.

关键词： Metagenomics next-generation sequencing(mNGS) Infectious disease Cerebrospinal fluid(CSF) Oxford Nanopore Technologies(ONT) Microbiome