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A novel AMH variant at the prehelix loop impairs the binding to AMHR2 and causes persistent Mullerian duct syndrome

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Asian Journal of Andrology 2024年第2期26卷 222-224页

作者： Qiang Du Chuang qiu Yuan-Yuan Zhang Xue-jun shang Xiao-Liang Liu Center of Reproductive Medicine Shengjing Hospital of China Medical UniversityShenyang 110004China Department of Orthopedics Shengjing Hospital of China Medical UniversityShenyang 110004China Department of Clinical Genetics Shengjing Hospital of China Medical UniversityShenyang 110004China Department of Urology Jinling HospitalSchool of MedicineNanjing UniversityNanjing 210012China

Dear Editor,Persistent Mullerian duct syndrome(PMDS;Online Mendelian Inheritance in Man[OMIM]:#261550)is a rare autosomal recessive inherent difference in sex development in males with Mullerian duct derivatives,including the uterus,fallopian tubes,and upper part of the vagina.'Approximately 88%of PMDS patients were found to have biallelic variants in the anti-Mullerian hormone(AMH;OMIM:*600957)or AMH type 2 receptor(AMHR2;OMIM:*600956)genes,and the rest were referred as idiopathic.I The serum AMH levels are usually very low or undetectable in PMDS patients with AMH gene mutations but normal or elevated in those with AMHR2 gene mutations.Here,an adult Chinese patient with PMDS carrying biallelic variants of the AMH gene was reported to have unexpectedly normal serum AMH level.Please refer to Supplementary Information of Patient and Methods for methodologies.

关键词： elevated AMH Muller

Machine learning-based comparison of factors influencing estimated glomerular filtration rate in Chinese women with or without nonalcoholic fatty liver

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World Journal of Clinical Cases 2024年第15期12卷 2506-2521页

作者： I-Chien Chen Lin-ju Chou Shih-Chen Huang Ta-Wei Chu shang-Sen Lee Department of Nursing Kaohsiung Armed Forces General HospitalKaohsiung 802Taiwan Department of Obstetrics and Gynecology Tri-Service General HospitalNational Defense Medical CenterTaipei 114Taiwan Chief Executive Officer's Office MJ Health Research FoundationTaipei 114Taiwan Department of Urology Taichung Tzu Chi HospitalBuddhist Tzu Chi Medical FoundationTaichung 427Taiwan School of Medicine Tzu Chi UniversityHualian 970Taiwan Department of Urology Tri-Service General HospitalNational Defense Medical CenterTaipei 114Taiwan

BACKGROUND The prevalence of non-alcoholic fatty liver(NAFLD)has increased recently.Subjects with NAFLD are known to have higher chance for renal function impairment.Many past studies used traditional multiple linear regression(MLR)to identify risk factors for decreased estimated glomerular filtration rate(eGFR).However,medical research is increasingly relying on emerging machine learning(Mach-L)methods.The present study enrolled healthy women to identify factors affecting eGFR in subjects with and without NAFLD(NAFLD+,NAFLD-)and to rank their importance.AIM To uses three different Mach-L methods to identify key impact factors for eGFR in healthy women with and without NAFLD.METHODS A total of 65535 healthy female study participants were enrolled from the Taiwan MJ cohort,accounting for 32 independent variables including demographic,biochemistry and lifestyle parameters(independent variables),while eGFR was used as the dependent variable.Aside from MLR,three Mach-L methods were applied,including stochastic gradient boosting,eXtreme gradient boosting and elastic net.Errors of estimation were used to define method accuracy,where smaller degree of error indicated better model performance.RESULTS Income,albumin,eGFR,High density lipoprotein-Cholesterol,phosphorus,forced expiratory volume in one second(FEV1),and sleep time were all lower in the NAFLD+group,while other factors were all significantly higher except for smoking area.Mach-L had lower estimation errors,thus outperforming MLR.In Model 1,age,uric acid(UA),FEV1,plasma calcium level(Ca),plasma albumin level(Alb)and T-bilirubin were the most important factors in the NAFLD+group,as opposed to age,UA,FEV1,Alb,lactic dehydrogenase(LDH)and Ca for the NAFLD-group.Given the importance percentage was much higher than the 2nd important factor,we built Model 2 by removing age.CONCLUSION The eGFR were lower in the NAFLD+group compared to the NAFLD-group,with age being was the most important impact factor in both groups of healthy Chinese women,followed by LDH,UA,FEV1 and

关键词： Non-alcoholic fatty liver Estimated glomerular filtration rate Machine learning Chinese women

Investigation on the mechanism of Qiangxinhuoli prescription in the treatment of chronic heart failure based on p38-MAPK signaling pathway

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Traditional Medicine Research 2024年第7期9卷 13-24页

作者： Di Guo qiu-Han Zheng Di Wang Zhi Pan Xiao-Ling shang College of Basic Medicine Changchun University of Chinese MedicineChangchun 130117China. Jilin Ginseng Academy Changchun University of Chinese MedicineChangchun 130117China.

Background:The aim of this study is to investigate the mechanism of action underlying the therapeutic effects of the national patent Chinese medicine compound“Qiangxinhuoli prescription(QXHLF)”on chronic heart failure(CHF).Methods:In vitro,the H_(9)C_(2) cell model was induced by ANGII,and cell proliferation and related protein expression were detected by Cell Counting Kit-8 and Western blot.In vivo,A rat model of CHF was prepared by ligation of the left anterior descending coronary artery.The effects of QXHLF on cardiac function in CHF rats were evaluated by cardiac index,hemodynamic changes,enzyme-linked immunosorbent assay,hematoxylin-eosin staining,immunohistochemistry,Western blot and RT-PCR.The expression of pro-apoptotic factors and anti-apoptotic factors,as well as TGFβ1,p-p38,TAK 1 mRNA,and protein,were detected.Results:In vitro,QXHLF has a significant inhibitory effect on the proliferation of H_(9)C_(2) cells.QXHLF can reduce the expression levels of TAK 1,TGFβ1,p-p38,Caspase3 and BAX proteins in H_(9)C_(2) cells,and increase the expression level of BCL_(2) protein.In vivo,QXHLF has the potential to increase left ventricular systolic pressure,m aximum rate of change in left ventricular pressure while decreasing left ventricular end diastolic pressure,and inhibiting the serum levels of brain natriuretic peptide.Moreover,QXHLF exhibits significant improvements in the pathological alterations of myocardial cells and fibers in CHF rats,leading to enhanced myocardial tissue morphology and notable advantages in combating myocardial fibrosis.QXHLF can reduce the levels of BAX and Caspase3 and up-regulate the expression of BCL_(2),thereby inhibiting cardiomyocyte apoptosis.Furthermore,QXHLF demonstrates inhibitory effects on the mRNA and protein expression levels of TGFβ_(1),TAK_(1),and p-p38 in the heart tissue of the CHF rat model.Conclusion:These findings indicate that QXHLF has a therapeutic effect on CHF by inhibiting the p38-MAPK signaling pathway,reducing myocardial fibrosis,preventing apoptosis,inhibiti

关键词： chronic heart failure Qiangxinhuoli prescription p38MAPK pathway H_(9)C_(2) Action mechanism

Synthetic Control of Thorium Metal-Organic Frameworks for Sequencing and Sensing of Radioiodine Species

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Chinese Journal of Chemistry 2024年第1期42卷 20-28,I0004页

作者： Yu ju Zi-Jian Li xue Wang Jie qiu Yiuhon Chan Zhi-Hui Zhang Mingyang He Jian Lin Jiangsu Key Laboratory of Advanced Catalytic Materials and Technology Changzhou UniversityNo.21Gehu Middle RoadChangzhouJiangsu 213164China Schoolof Nuclear Science and Technology Xi'an Jiaotong UniversityNo.28West Xianning RoadXianShaanxi 710049China Key Laboratoryof Interfacial Physics and Technology Shanghai Institute of Applied PhysicsChinese Academy of Sciences2019JiaLuoRoadShanghai 201800China

Exploring the physiochemical properties and expanding the applications of actinide-containing materials is paramount to address the escalating challenge of radioactive waste accumulation.However,unlocking the full potential of these materials is largely crippled by the radiotoxicity of the actinides.We report here two porous and luminescent thorium-based metal-organic frameworks(Th-BITD-1 and Th-BITD-2)that serve as a bifunctional platform for sequencing and sensing of radioiodine,a much more radioactive fission product discharged during the nuclear fuel reprocessing.In particular,Th-BITD-1 displays better iodine uptake performance than Th-BITD-2 via the solution-based process and vapor diffusion with the maximum adsorption capacities of 831 and 1099 mg/g,respectively.Fur thermore,Th-BITD-1 can function as a highly sensitive luminescence sensor for iodate with a quenching constant(Ksv)of 6.6(5)×10^(3) M^(-1)and a detection limit of 2.02μM,respectively,outperforming 2.96(6)×10^(3)M^(-1)and 10.5μM of Th-BITD-2.Moreover,a positive correlation between the sensing efficacy and the iodate adsorption capacity has been revealed.This work highlights the opportunity in designing novel actinide-based MOFs for their potential applications in radiological fields,e.g.,radionuclide separation and detection.

关键词： Thorium Metal-organic frameworks Adsorption Detection lodine Actinides Radiochemistry Luminescence

Experimental quantum state compression from two identical qubits to a qutrit

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Science China(Physics,Mechanics & Astronomy) 2024年第7期67卷 1-5页

作者： Qiao Xu Lin-Xiang Zhou Tian-Feng Feng shang-Feng qiu Si-Wu Li Wu-Ji Zhang Hui Luo Xiao-Qi Zhou State Key Laboratory of Optoelectronic Materials and Technologies and School of Physics Sun Yat-sen UniversityGuangzhou 510000China Hefei National Laboratory Hefei 230088China

In the realm of modern information technology,data compression technology occupies a pivotal position.With advancements in quantum information technology,the need to compress large-scale qubits ensembles has become urgent,aiming to reduce the demand on quantum storage resources.However,existing quantum state compression schemes generally face a limitation:the particles before and after compression must reside in the same dimensional space.In specific scenarios,compressing qubits into particles of higher dimensions not only enhances the efficiency of quantum state compression but also further reduces the usage of quantum storage resources.Here we experimentally demonstrated a quantum state compression between particles of different dimensions,successfully compressing two qubits into a single qutrit.The average fidelity of the resulting qutrit with the ideal quantum state is 0.8835.Our study may have potential applications in future quantum information,such as increasing quantum communication bandwidth and reducing storage resource consumption in quantum computing.

关键词： quantum state compression quantum information technology optics

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Hydrogen production from hydrolysis of NaBH4 solution over Co-Fe-B@g-C3N4/NF thin film catalyst

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Rare Metals 2024年第6期43卷 2648-2659页

作者： Yan Wang Jia-Xin Ma Jian Ren Di Zhang Feng-Yan Xu Ke Zhang Zhong-qiu Cao qiu-ju Sun Guo-De Li Shi-Wei Wu Hong-Hui Chen College of Chemistry and Chemical Engineering Shenyang Normal University Experimental Center Shenyang Normal University Hunan Shande Energy Storage New Materials Research Institute Limited Company

In this study,the double loaded Co-Fe-B@g-C3N4/NF（NF:Ni foam） thin film catalysts were prepared for the first time via chemical deposition method at room temperature.By optimizing the reducing agent concentration to 0.9 mol·L-1,the as-obtained Co-Fe-B@g-C3N4/NF exhibited the twisted ribbon structure with more distinct three-dimensional hierarchy and the smaller particle size,showing the good catalytic property for the hydrolysis of NaBH4solution.The H2generation rate of Co-Fe-B@g-C3N4/NF and binary Co-B@g-C3N4/NF under visible light irradiation surpassed the value under natural condition.The apparent activation energy of Co-Fe-B@g-C3N4/NF(45.0 kJ·mol-1) under visible light irradiation was obviously reduced when compared with the natural condition(48.4 kJ·mol-1) and binary Co-B@g-C3N4/NF(60.6 kJ·mol-1) under visible light irradiation.Furthermore,the catalytic performance of the optimized Co-Fe-B@g-C3N4/NF thin film catalyst was superior to most of the reported non-noble metal and even noble metal catalysts.Hence,it illustrated that the catalytic H2production performance of Co-Fe-B@g-C3N4/NF thin film was distinctly improved after the introduction of light and multicomponent recombination.

关键词： Sodium borohydride Co–Fe–B@g-C 3 N 4 /NF catalyst Chemical deposition Hydrogen production

Comparing the efficacy and safety of low,medium,and high dosages of selexipag for treating pulmonary hypertension:A systematic review and meta-analysis

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Animal Models and Experimental Medicine 2024年第1期7卷 56-70页

作者： shang Wang Yi Yan Jian Zhang Ping Yuan Ci-jun Luo Hong-Ling qiu Hui-Ting Li Jian Xu Lan Wang Tian-Lan Li Rong Jiang Department of Cardio-Pulmonary Circulation Shanghai Pulmonary HospitalSchool of MedicineTongji UniversityShanghaiChina Heart Center and shanghai Institute of Pediatric Congenital Heart Disease Shanghai Children's Medical CenterNational Children's Medical CenterShanghai Jiaotong University School of MedicineShanghaiChina Department of Respiratory and Critical Care Medicine The 416 Hospital of Nuclear IndustryThe Second Affiliated Hospital of Chengdu Medical CollegeChengduChina Department of Hematology The Affiliated Hospital of Qingdao UniversityQingdaoChina

Background:The maintenance dosage of selexipag is categorized as low,medium or high.In order to assess the efficacy and safety of different dosages of selexipag for the risk stratification of pulmonary arterial hypertension(PAH),we performed a sys-tematic review and meta-analysis.Methods:Studies assessing PAH risk stratification indices,such as the World Health Organization functional class(WHO-FC),six-minute walk distance(6MWD),N-terminal pro-B-type natriuretic peptide(NT-proBNP)level,right atrial pressure(RAP),cardiac index(CI)and mixed venous oxygen saturation(SvO2),were included.Results:Thirteen studies were included.Selexipag led to improvements in the 6MWD(MD:24.20 m,95%CI:10.74-37.67),NT-proBNP(SMD:-0.41,95%CI:-0.79-0.04),CI(MD:0.47 L/min/m^(2),95%CI:0.17-0.77)and WHO-FC(OR:0.564,95%CI:0.457-0.697).Subgroup analysis demonstrated that all three dosages improved the 6MWD.A moderate dosage led to improvements in the CI(MD:0.30 L/min/m^(2),95%CI:0.15-0.46)and WHO-FC(OR:0.589,95%CI:0.376-0.922).Within 6 months of treatment,only the WHO-FC and CI were significantly improved(OR:0.614,95%CI:0.380-0.993;MD:0.30 L/min/m^(2),95%CI:0.16-0.45,respectively).More than 6 months of treatment significantly improved the 6MWD,WHO-FC and NT-proBNP(MD:40.87 m,95%CI:10.97-70.77;OR:0.557,95%CI:0.440-0.705;SMD:-0.61,95%CI:-1.17-0.05,respectively).Conclusions:Low,medium,and high dosages of selexipag all exhibited good effects.When treatment lasted for more than 6 months,selexipag exerted obvious effects,even in the low-dosage group.This finding is important for guiding individualized treatments.

关键词： individualized treatments meta-analysis prostacyclin receptor agonist risk stratification systematic review

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Mechanisms of resistance to trastuzumab in HER2-positive gastric cancer

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Chinese Journal of Cancer Research 2024年第3期36卷 306-321页

作者： Zhifei Li Huan Zhao Huihui Hu Haili shang Yongjing Ren Wenhui qiu Hao Su Huifang Lyu Xiaobing Chen Department of Oncology the Affiliated Cancer Hospital of Zhengzhou University&Henan Cancer Hospital Henan Engineering Research Center of Precision Therapy of Gastrointestinal Cancer Zhengzhou Key Laboratory for Precision Therapy of Gastrointestinal Cancer Henan University of Traditional Chinese Medicine State Key Laboratory of Esophageal Cancer Prevention&Treatment Key Laboratory of Advanced Drug Preparation Technologies Ministry of Education School of Pharmaceutical SciencesZhengzhou University The First Affiliated Hospital of Xinxiang Medical University Department of Oncology the Affiliated Cancer Hospital of Zhengzhou University&Henan Cancer Hospital

Gastric cancer is one of the most prevalent cancers worldwide, and human epidermal growth factor receptor 2(HER2)-positive cases account for approximately 20% of the total cases. Currently, trastuzumab + chemotherapy is the recommended first-line treatment for patients with HER2-positive advanced gastric cancer, and the combination has exhibited definite efficacy in HER2-targeted therapy. However, the emergence of drug resistance during treatment considerably reduces its effectiveness; thus, it is imperative to investigate the potential mechanisms underlying resistance. In the present review article, we comprehensively introduce multiple mechanisms underlying resistance to trastuzumab in HER2-positive gastric cancer cases, aiming to provide insights for rectifying issues associated with resistance to trastuzumab and devising subsequent treatment strategies.

关键词： HER2 gastric cancer trastuzumab drug resistance

Global status and trends of metabolomics in diabetes: A literature visualization knowledge graph study

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World Journal of Diabetes 2024年第5期15卷 1021-1044页

作者： Hong Li Liu Li qiu-Qing Huang Si-Yao Yang jun-ju Zou Fan Xiao Qin Xiang Xiu Liu Rong Yu College of Chinese Medicine Hunan University of Chinese MedicineChangsha 410208Hunan ProvinceChina College of International Education Hunan University of Chinese MedicineChangsha 410208Hunan ProvinceChina Department of Science and Technology Hunan University of Chinese MedicineChangsha 410208Hunan ProvinceChina Hunan Key Laboratory of TCM Prescription and Syndromes Translational Medicine Hunan University of Chinese MedicineChangsha 410208Hunan ProvinceChina College of Graduate Hunan University of Chinese MedicineHunan ChangshaHunan ProvinceChina

BACKGROUND Diabetes is a metabolic disease characterized by hyperglycemia,which has increased the global medical burden and is also the main cause of death in most countries.AIM To understand the knowledge structure of global development status,research focus,and future trend of the relationship between diabetes and metabolomics in the past 20 years.METHODS The articles about the relationship between diabetes and metabolomics in the Web of Science Core Collection were retrieved from 2002 to October 23,2023,and the relevant information was analyzed using CiteSpace6.2.2R(CiteSpace),VOSviewer6.1.18(VOSviewer),and Bibliometrix software under R language.RESULTS A total of 3123 publications were included from 2002 to 2022.In the past two decades,the number of publications and citations in this field has continued to increase.The United States,China,Germany,the United Kingdom,and other relevant funds,institutions,and authors have significantly contributed to this field.Scientific Reports and PLoS One are the journals with the most publications and the most citations.Through keyword co-occurrence and cluster analysis,the closely related keywords are"insulin resistance","risk","obesity","oxidative stress","metabolomics","metabolites"and"biomarkers".Keyword clustering included cardiovascular disease,gut microbiota,metabonomics,diabetic nephropathy,molecular docking,gestational diabetes mellitus,oxidative stress,and insulin resistance.Burst detection analysis of keyword depicted that"Gene","microbiota","validation","kidney disease","antioxidant activity","untargeted metabolomics","management",and"accumulation"are knowledge frontiers in recent years.CONCLUSION The relationship between metabolomics and diabetes is receiving extensive attention.Diabetic nephropathy,diabetic cardiovascular disease,and kidney disease are key diseases for future research in this field.Gut microbiota,molecular docking,and untargeted metabolomics are key research directions in the future.Antioxidant activity,gene,validation,mass spectrometry,manage

关键词： Diabetes Metabolomics Bibliometric CiteSpace VOSviewer