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Microdeletion on Xq27.1 in a Chinese VACTERL-Like Family with Kidney and Anal Anomalies

Biomedical and Environmental Sciences 2024年第5期37卷 503-510页

作者： LI Min ZHANG Yu Lan ZHANG Kai Li LI Ping Ping LYU Yu Han LIANG Ya Xin YU Yue Department of Gynecology and Obstetrics Beijing HospitalNational Center of GerontologyInstitute of Geriatric MedicineChinese Academy of Medical SciencesBeijing 100730China Chinese Academy of Medical Sciences and Peking Union Medical College Beijing HospitalBeijing 100730China The Key Laboratory of geriatrics Beijing Institute of GeriatricsBeijing HospitalNational Center of GerontologyInstitute of Geriatric MedicineChinese Academy of Medical SciencesBeijing 100730China

Objective VATER/VACTERL-like association is associated with adverse pregnancy *** evidence of this disorder is *** this study,we aimed to provide genetic insights to improve the diagnosis of *** We have described a Chinese family in which four members were affected by renal defects or agenesis,anal atresia,and anovaginal fistula,which is consistent with the diagnosis of a VACTERL-like *** and genetic analyses were conducted using genome and exome *** Segregation analysis revealed the presence of a recessive X-linked microdeletion in two living affected individuals,harboring a 196–380 kb microdeletion on Xq27.1,which was identified by familial exome *** sequencing was performed on the affected male,confirming a-196 kb microdeletion in Xq27.1,which included a 28%loss of the CDR-1 *** family members were included in the co-segregation analysis,and only VACTERL-like cases with microdeletions were reported in *** These results suggest that the 196–380 kb microdeletion in Xq27.1 could be a possible cause of the VATER/VACTERL-like ***,further genetic and functional analyses are required to confirm or rule out genetic background as the definitive cause of the VACTERL association.

关键词： Prenatal diagnosis VACTERL whole-genome sequencing whole-exome sequencing X-linked

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Major Clinical Features and Epidemic Characteristics of Erosive Vulvar Lichen Planus:A Retrospective Analysis

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International Journal of Dermatology and Venereology 2024年第2期7卷 94-98页

作者： Ya-Kun Shao Kai-Lyu Sun Min Yang Wan Liu Yu Fu Jian-Min Chang Department of Dermatology Beijing HospitalNational Center of GerontologyInstitute of Geriatric MedicineChinese Academy of Medical SciencesBeijing 100730China

Objective:Vulvar lichen planus(VLP),especially erosive VLP(EVLP),seriously affects women’s physiological function and quality of life.A retrospective analysis of erosive vulvar lichen planus(EVLP)was performed to raise awareness on this chronic,deforming,and painful vulvar ***:This observational retrospective study involved 40 patients with EVLP among 1,368 patients with vulvar disease from 2017 to *** patients’vulvar clinical features and extravulvar mucosal involvement were *** patients’pain and quality of life were evaluated with the numeric rating scale and the Dermatology Life Quality Index(DLQI),*** characteristics were reported using frequencies and proportions for categorical *** variables are expressed as mean±standard *** association between NRS score for pain and DLQI score was analyzed by Pearson’s correlation ***:EVLP accounted for 2.9%(40/1,368)of all cases of vulvar disease,and the median age at onset was 42 *** mostly occurred on the labia minora and ***(20/40)of the patients had extravulvar mucosal ***(42.5%)patients had oral lichen planus,and seven(17.5%)patients were diagnosed with vulvovaginal-gingival *** numeric rating scale score showed that 47.5%(19/40)of patients experienced mild pain,whereas 12.5%(5/40)described the pain as ***-one patients(77.5%,31/40)had dyspareunia,and nine patients had aggravated pain after sexual *** mean DLQI score was 9.1±6.0,with 37.5%(15/40)of patients indicating that EVLP had severely affected their *** numeric rating scale score for pain was significantly correlated with the DLQI score(P=0.007).Conclusion:EVLP can affect the quality of women’s lives and cause severe deformations and painful architectural *** description of the characteristics of EVLP in this report will benefit the diagnosis and early treatment of this disease.

关键词： erosive vulvar lichen planus multiple mucosal involvement pain assessment quality of life Dermatology Life Quality Index numeric rating scale

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Inflection Point Age in the Middle and Older Women—Jiangxi Province,China,2020-2022

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China CDC weekly 2024年第9期6卷 162-167页

作者： Shanlan Yang Langlang Zhang Helang Huang Jiaofeng Wang Lei Wu Zhijun Bao Shanghai Institute of Infectious Disease and Biosecurity Fudan UniversityShanghaiChina Department of gerontology Huadong Hospital Affiliated to Fudan UniversityShanghai Key Laboratory of Clinical Geriatric MedicineResearch Center on Aging and MedicineFudan UniversityShanghaiChina Jiangxi Provincial Key Laboratory of Preventive medicine School of Public HealthNanchang UniversityNanchang CityJiangxi ProvinceChina

Summary What is already known about this topic?Previous studies have predominantly examined the micro-level aspects of women aging inflection points,while macro-level research using big data on the inflection points o... 详细信息

关键词： Middle Jiangxi currently

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^(18)F-prostate specific membrane antigen positron emission tomography/computerized tomography for lymph node staging in medium/high risk prostate cancer:A systematic review and meta-analysis

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Chinese Medical Journal 2024年第8期137卷 949-958页

作者： Zhengtong Lv Liuqi Song Miao Wang Huimin Hou Haodong Li Xuan Wang Jianye Wang Jianlong Wang Ming Liu Department of Urology Beijing HospitalNational Center of GerontologyInstitute of Geriatric MedicineChinese Academy of Medical SciencesBeijing 100730China Graduate School of Peking Union Medical College and Chinese Academy of Medical Sciences Beijing 100730China Peking University Fifth School of Clinical medicine Beijing 100730China Peking University China-Japan Friendship School of Clinical medicine Beijing 100029China

Background:Lymph node staging of prostate cancer(PCa)is important for planning and monitoring of treatment.^(18)F-prostate specific membrane antigen positron emission tomography/computerized tomography(^(18)F-PSMA PET/CT)has several advantages over^(68)Ga-PSMA PET/CT,but its diagnostic value requires further *** meta-analysis focused on establishing the diagnostic utility of^(18)F-PSMA PET/CT for lymph node staging in medium/high-risk ***:We searched the EMBASE,PubMed,Cochrane library,and Web of Science databases from inception to October 1,*** cancer,^(18)F,lymph node,PSMA,and PET/CT were used as search terms and the language was limited to *** additionally performed a manual search using the reference lists of key *** and study characteristics were extracted and the QUADAS-2 tool was employed to evaluate the quality of included ***,specificity,the positive and negative likelihood ratio(PLR and NLR),diagnostic odds ratio(DOR),area under the curve(AUC),and 95%confidence interval(CI)were used to evaluate the diagnostic value of^(18)F-PSMA PET/*** 17 software was employed for calculation and statistical ***:A total of eight diagnostic tests including 734 individual samples and 6346 lymph nodes were included in this *** the patient level,the results of each consolidated summary were as follows:sensitivity of 0.57(95%CI 0.39-0.73),specificity of 0.95(95%CI 0.92-0.97),PLR of 11.2(95%CI 6.6-19.0),NLR of 0.46(95%CI 0.31-0.68),DOR of 25(95%CI 11-54),and AUC of 0.94(95%CI 0.92-0.96).At the lesion level,the results of each consolidated summary were as follows:sensitivity of 0.40(95%CI 0.21-0.62),specificity of 0.99(95%CI 0.95-1.00),PLR of 40.0(95%CI 9.1-176.3),NLR of 0.61(95%CI 0.42-0.87),DOR of 66(95%CI 14-311),and AUC of 0.86(95%CI 0.83-0.89).Conclusions:^(18)F-PSMA PET/CT showed moderate sensitivity but high specificity in lymph node staging of medium/high-risk *** diag

关键词： ^(18)F-PSMA PET/CT Diagnostic test Lymph node Meta-analysis Prostate cancer

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Clinical and molecular significance of homologous recombination deficiency positive non-small cell lung cancer in Chinese population:An integrated genomic and transcriptional analysis

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Chinese Journal of Cancer Research 2024年第3期36卷 282-297页

作者： Yifei Wang Yidan Ma Lei He Jun Du Xiaoguang Li Peng Jiao Xiaonan Wu Xiaomao Xu Wei Zhou Li Yang Jing Di Changbin Zhu Liming Xu Tianlin Sun Lin Li Dongge Liu Zheng Wang Department of Pathology Department of Minimally Invasive Tumor Therapies Center Department of Thoracic Surgery Department of Oncology Department of Respiratory and Critical Care medicine Beijing HospitalNational Center of GerontologyInstitute of Geriatric MedicineChinese Academy of Medical SciencesBeijing 100730China Amoy Diagnostics Co. Ltd.Xiamen 361027China

Objective:The clinical significance of homologous recombination deficiency(HRD)in breast cancer,ovarian cancer,and prostate cancer has been established,but the value of HRD in non-small cell lung cancer(NSCLC)has not been fully *** study aimed to systematically analyze the HRD status of untreated NSCLC and its relationship with patient prognosis to further guide clinical ***:A total of 355 treatment-naïve NSCLC patients were retrospectively *** status was assessed using the AmoyDx Genomic Scar Score(GSS),with a score of≥50 considered ***,transcriptomic,tumor microenvironmental characteristics and prognosis between HRD-positive and HRDnegative patients were ***:Of the patients,25.1%(89/355)were *** to HRD-negative patients,HRDpositive patients had more somatic pathogenic homologous recombination repair(HRR)mutations,higher tumor mutation burden(TMB)(P<0.001),and fewer driver gene mutations(P<0.001).Furthermore,HRD-positive NSCLC had more amplifications in PI3K pathway and cell cycle genes,MET and MYC in epidermal growth factor receptor(EGFR)/anaplastic lymphoma kinase(ALK)mutant NSCLC,and more PIK3CA and AURKA in EGFR/ALK wild-type ***-positive NSCLC displayed higher tumor proliferation and immunosuppression ***-negative NSCLC showed activated signatures of major histocompatibility complex(MHC)-II,interferon(IFN)-γand effector memory CD8+T ***-positive patients had a worse prognosis and shorter progressionfree survival(PFS)to targeted therapy(first-and third-generation EGFR-TKIs)(P=0.042).Additionally,HRDpositive,EGFR/ALK wild-type patients showed a numerically lower response to platinum-free immunotherapy ***:Unique genomic and transcriptional characteristics were found in HRD-positive *** prognosis and poor response to EGFR-TKIs and immunotherapy were observed in HRD-positive *** study highlights potential actionable alterations in HRD

关键词： Non-small cell lung cancer homologous recombination deficiency genetic alterations transcriptional analysis tumor microenvironment prognosis

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Tetramethylpyrazine and paeoniflorin combination(TMP-PF)alleviates atherosclerosis progress by reducing hyperlipemia and inhibiting plaque angiogenesis via the NR4A1/VEGFR2 pathway

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Food Science and Human Wellness 2024年第5期13卷 2642-2652页

作者： Rong Yuan Qiqi Xin Weili Shi Yu Miao Zhengchuan Zhu Yahui Yuan Ying Chen Xiaoning Chen Sean Xiao Leng Keji Chen Weihong Cong Cardiovascular Diseases Laboratory Xiyuan HospitalChina Academy of Chinese Medical SciencesBeijing 100091China National Clinical Research Center for Chinese medicine Cardiology Xiyuan HospitalChina Academy of Chinese Medical SciencesBeijing 100091China School of Health Economics and Management Nanjing University of Chinese MedicineNanjing 210023China Department of Otolaryngology Jiangsu Province Hospital of Chinese MedicineNanjing 210029China division of geriatric medicine and gerontology Department of MedicineJohns Hopkins University School of MedicineBaltimore 21224United States

Atherosclerosis remains a great threat to human health *** studies found that tetramethylpyrazine(TMP)and paeonifl orin(PF)combination(TMP-PF)exerts anti-atherosclerotic effects in ***,whether TMP-PF improves atherosclerosis in vivo needs further *** present study aims to assess the anti-atherosclerotic properties of TMP-PF in ApoE^(-/-)mice and explore the related molecule *** showed that TMP and high-dose TMP-PF decreased serum triglyceride and low-density lipoprotein cholesterol levels,suppressed vascular endothelial growth factor receptor 2(VEGFR2)and nuclear receptor subfamily 4 group A member 1(NR4A1)expression in aortic tissues,inhibited plaque angiogenesis,reduced plaque areas,and alleviated atherosclerosis in ApoE^(-/-)***,TMP-PF exhibited a better modulation effect than TMP or PF ***,NR4A1 agonist abolished the anti-atherosclerotic effects of *** conclusion,TMP-PF was first found to alleviate atherosclerosis progression by reducing hyperlipemia and inhibiting plaque angiogenesis via the NR4A1/VEGFR2 pathway,indicating that TMP-PF had a positive effect on reducing hyperlipemia and attenuating atherosclerosis development.

关键词： Atherosclerosis Hyperlipemia Angiogenesis Plaque stability Chinese medicine Tetramethylpyrazine Paeoniflorin

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DEAD-box helicase 17(DDX17)protects cardiac function by promoting mitochondrial homeostasis in heart failure

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Signal Transduction and Targeted Therapy 2024年第6期9卷 2774-2790页

作者： Mingjing Yan Junpeng Gao Ming Lan Que Wang Yuan Cao Yuxuan Zheng Yao Yang Wenlin Li Xiaoxue Yu Xiuqing Huang Lin Dou Bing Liu Junmeng Liu Hongqiang Cheng Kunfu Ouyang Kun Xu Shenghui Sun Jin Liu Weiqing Tang Xiyue Zhang Yong Man Liang Sun Jianping Cai Qing He Fuchou Tang Jian Li Tao Shen The Key Laboratory of geriatrics Beijing Institute of GeriatricsInstitute of Geriatric MedicineChinese Academy of Medical SciencesBeijing Hospital/National Center of Gerontology of National Health CommissionBeijing 100730China Peking University Fifth School of Clinical medicine Beijing 100730China Department of Laboratory medicine Huashan HospitalShanghai Medical CollegeFudan UniversityShanghai 200040China Biomedical Pioneering Innovation Center School of Life SciencesPeking UniversityBeijing 100871China Emergency Center Zhongnan Hospital of Wuhan UniversityWuhan 430071China Department of Cardiology Beijing HospitalNational Center of GerontologyInstitute of Geriatric MedicineChinese Academy of Medical Sciences&Peking Union Medical CollegeBeijing 100730China Graduate School of Peking Union Medical College Beijing 100730China Department of Health Care Beijing HospitalNational Center of GerontologyInstitute of Geriatric MedicineChinese Academy of Medical SciencesBeijing 100730China Peking-Tsinghua Center for Life Sciences Academy for Advanced Interdisciplinary StudiesPeking UniversityBeijing 100871China Department of Pathology and Pathophysiology and Department of Cardiology at Sir Run Run Shaw Hospital Zhejiang University School of MedicineHangzhou 310058China Department of Cardiovascular Surgery Peking University Shenzhen HospitalShenzhen 518036China Experimental Technology Center for Life Sciences at Beijing Normal University Beijing 100875China

DEAD-box helicase 17(DDX17)is a typical member of the DEAD-box family with transcriptional cofactor *** DDX17 is abundantly expressed in the myocardium,its role in heart is not fully *** generated cardiomyocyte-specific Ddx17-knockout mice(Ddx17-cKO),cardiomyocyte-specific Ddx17 transgenic mice(Ddx17-Tg),and various models of cardiomyocyte injury and heart failure(HF).DDX17 is downregulated in the myocardium of mouse models of heart failure and cardiomyocyte ***-specific knockout of Ddx17 promotes autophagic flux blockage and cardiomyocyte apoptosis,leading to progressive cardiac dysfunction,maladaptive remodeling and progression to heart *** of DDX17 expression in cardiomyocytes protects cardiac function under pathological *** studies showed that DDX17 can bind to the transcriptional repressor B-cell lymphoma 6(BCL6)and inhibit the expression of dynamin-related protein 1(DRP1).When DDX17 expression is reduced,transcriptional repression of BCL6 is attenuated,leading to increased DRP1 expression and mitochondrial fission,which in turn leads to impaired mitochondrial homeostasis and heart *** also investigated the correlation of DDX17 expression with cardiac function and DRP1 expression in myocardial biopsy samples from patients with heart *** findings suggest that DDX17 protects cardiac function by promoting mitochondrial homeostasis through the BCL6-DRP1 pathway in heart failure.

关键词： DDX17 homeostasis cardiac

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Associations of accelerometry-measured and self-reported physical activity and sedentary behavior with skeletal muscle energetics:The Study of Muscle,Mobility and Aging(SOMMA)

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Journal of Sport and Health Science 2024年第5期13卷 621-630页

作者： Yujia(Susanna)Qiao Terri L.Blackwell Peggy M.Cawthon Paul M.Coen Steven R.Cummings Giovanna Distefano Samaneh Farsijani Daniel E.Forman Bret H.Goodpaster Stephen B.Kritchevsky Theresa Mau Frederico G.S.Toledo Anne B.Newman Nancy W.Glynn Department of Epidemiology School of Public HealthUniversity of PittsburghPittsburghPA 15261USA San Francisco Coordinating Center California Pacific Medical Center Research InstituteSan FranciscoCA 94143USA Department of Epidemiology and Biostatistics University of CaliforniaSan FranciscoCA 94143USA Translational Research Institute AdventHealthOrlandoFL 32804USA Department of medicine(geriatrics and Cardiology) University of Pittsburghand GeriatricsResearchEducationand Clinical Center(GRECC)VA Pittsburgh Healthcare SystemPittsburghPA 15261USA Department of Internal medicine Section on Gerontology and Geriatric MedicineWake Forest School of MedicineWinston-SalemNC 27109USA division of Endocrinology and Metabolism Department of MedicineUniversity of PittsburghPittsburghPA 15261USA

Background:Skeletal muscle energetics decline with age,and physical activity(PA)has been shown to offset these declines in older ***,many studies reporting these effects were based on self-reported PA or structured exercise ***,we examined the associations of accelerometry-measured and self-reported PA and sedentary behavior(SB)with skeletal muscle energetics and explored the extent to which PA and sedentary behavior would attenuate the associations of age with muscle ***:As part of the Study of Muscle,Mobility and Aging,enrolled older adults(n=879),810(age=76.4±5.0 years old,mean±SD;58%women)had maximal muscle oxidative capacity measured ex vivo via high-resolution re spirometry of permeabilized myofibers(maximal oxidative phosphorylation(maxOXPHOS))and in vivo by ^(31)phosphorus magnetic resonance spectroscopy(maximal adenosine triphosphate(ATP_(max))).Accelerometry-measured sedentary behavior,light activity,and moderate-to-vigorous PA(MVPA)were assessed using a wrist-worn ActiGraph GT9X over 7 ***-reported sedentary behavior,MVPA,and all PA were assessed with the Community Healthy Activities Model Program for Seniors(CHAMPS)*** regression models with progressive covariate adjustments evaluated the associations of sedentary behavior and PA with muscle energetics,as well as the attenuation of the age/muscle energetics association by MVP A and sedentary *** a sensitivity analysis,we also examined activPAL-measured daily step count and time spent in sedentary behavior and their associations with muscle ***:Every 30 min/day more of ActiGraph-measured MVPA was associated with 0.65 pmol/(s×mg)higher maxOXPHOS and 0.012 mM/s higher ATP_(max)after adjusting for age,site/technician,and sex(p<0.05).Light activity was not associated with maxOXPHOS or ATP_(max).Meanwhile,every 30 min/day spent in ActiGraph-measured sedentary behavior was associated with 0.39 pmol/s×mg lower maxOXPHOS and0.

关键词： Aging Exercise Mitochondria

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Aryl hydrocarbon receptor:Linking environment to aging process in elderly patients with asthma

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Chinese Medical Journal 2024年第4期137卷 382-393页

作者： Tianrui Yang Rongjun Wan Wei Tu Sai Nithin Avvaru Peisong Gao division of Allergy and Clinical Immunology Department of MedicineJohns Hopkins University School of MedicineBaltimoreMD 21224USA Department of geriatric medicine The First People’s Hospital of Yunnan ProvinceKunmingYunnan 650032China Department of Respiratory medicine Xiangya HospitalCentral South UniversityChangshaHunan 410008China The State Key Laboratory of Respiratory Disease for Allergy Shenzhen Key Laboratory of Allergy and ImmunologyShenzhen University School of MedicineShenzhenGuangdong 518055China

Aging is a significant risk factor for various diseases,including asthma,and it often leads to poorer clinical outcomes,particularly in elderly *** is recognized that age-related diseases are due to a time-dependent accumulation of cellular damage,resulting in a progressive decline in cellular and physiological functions and an increased susceptibility to chronic *** effects of aging affect not only the elderly but also those of younger ages,posing significant challenges to global ***,understanding the molecular mechanisms associated with aging in different diseases is *** intriguing factor is the aryl hydrocarbon receptor(AhR),which serves as a cytoplasmic receptor and ligand-activated transcription factor and has been linked to the aging ***,we review the literature on several major hallmarks of aging,including mitochondrial dysfunction,cellular senescence,autophagy,mitophagy,epigenetic alterations,and microbiome ***,we provide an overview of the impact of AhR on these hallmarks by mediating responses to environmental exposures,particularly in relation to the immune ***,we explore how aging hallmarks affect clinical characteristics,inflammatory features,exacerbations,and the treatment of *** is suggested that AhR signaling may potentially play a role in regulating asthma phenotypes in elderly populations as part of the aging process.

关键词： Aging Environment Reactive oxygen species Senescence Aryl hydrocarbon receptor Asthma

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心力衰竭早期筛查与一级预防中国专家共识(2024年)

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中华全科医师杂志 2024年第1期23卷 7-18页

作者：中国老年医学学会心电与心功能分会中国心衰中心联盟专家委员会中华医学会《中华全科医师杂志》编辑委员会杨杰孚艾力曼·马合木提柴珂陈宝霞董蔚韩薇姜萌刘晨任景怡宋春莉王华王文艳徐验杨萍俞杉张庆 Department of Cardiology Beijing Hospital National Center of Gerontology Institute of Geriatric Medicine Chinese Academy of Medical Sciences Beijing 100730 China

心力衰竭(心衰)是严重危及生命的临床综合征,具有发病率高、病死率高、再住院率高的特点,减轻由其造成的社会经济负担已成为全球公共卫生的重要优先事项。随着我国社会经济发展、城镇化进程及人口老龄化加剧,冠状动脉粥样硬化性心脏病(... 详细信息

心力衰竭(心衰)是严重危及生命的临床综合征,具有发病率高、病死率高、再住院率高的特点,减轻由其造成的社会经济负担已成为全球公共卫生的重要优先事项。随着我国社会经济发展、城镇化进程及人口老龄化加剧,冠状动脉粥样硬化性心脏病(冠心病)、高血压、糖尿病、肥胖和脂质代谢紊乱等慢性病的发病率呈上升趋势,使得处于心血管事件链末端的心衰患病率随之上升,带来巨大的公共卫生负担。

关键词：脂质代谢紊乱早期筛查社会经济负担全球公共卫生临床综合征中国专家共识再住院率心力衰竭

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