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Association of Platelet-Activating Factor Receptor Gene rs5938(G/T) and rs313152(T/C) Polymorphisms with Coronary Heart Disease and Blood Stasis Syndrome in A Chinese Han Population

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Chinese Journal of Integrative Medicine 2017年第12期23卷 893-900页

作者： ZHENG Guo-hua XIONG Shang-quan CHEN Hai-ying MEI Li-juan WANG Ting College of Health Information Technology and Management Shanghai University of Medicine and Health Sciences department of cardiologic Medicine The Second People's Hospital of Fujian Province The Second Clinic of Chinese Medicine Fujian University of Traditional Chinese Medicine

Objective: To explore the association of the platelet-activating factor receptor(PAFR) gene rs5938, rs313152 and rs76744145 polymorphisms with coronary heart disease(CHD) and blood stasis syndrome(BSS) of CHD in Chinese Han population. Methods: A total of 570 CHD patients(299 with BSS and 271 with non-BSS) and 317 controls were enrolled. The PAFR gene rs5938, rs313152 and rs76744145 polymorphisms were genotyped using the multiplex SNaP shot technology. The statistical analysis was conducted using a multiple variable logistic regression model. Results: Significant differences were detected in the genotypes frequency distributions of the rs5938(P0.05), between the controls and CHD patients. Individuals with an rs5938 or rs313152 mutated allele had a low risk for CHD [adjusted odds ratio(aOR)=0.35, 95% confidence interval(CI): 0.23 to 0.56, P0.05). Furthermore, the interaction effect of the rs5938 and rs313152 polymorphisms for BSS of CHD was significantly based on an aOR value associated with the combination of the rs5938 GT genotype with the rs313152 TC genotype of 0.27(95% CI: 0.1 to 0.7, P<0.01). Conclusion: The PAFR gene rs5938 or rs313152 polymorphisms might be a potential biomarker for susceptibility to CHD, especially to BSS of CHD in Chinese Han population.

关键词： platelet-activating factor receptor gene polymorphism coronary heart disease blood stasis syndrome susceptibility Chinese medicine

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Whole-exome sequencing reveals genetic risks of early-onset sporadic dilated cardiomyopathy in the Chinese Han population

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Science China(Life Sciences) 2022年第4期65卷 770-780页

作者： Lei Xiao Dongyang Wu Yang Sun Dong Hu Jiaqi Dai Yanghui Chen Daowen Wang Division of Cardiology Department of Internal MedicineTongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan430030China Hubei Key Laboratory of Genetics and Molecular Mechanisms of cardiologic Disorders Huazhong University of Science and TechnologyWuhan430030China

To reveal genetic risks of early-onset sporadic dilated cardiomyopathy(DCM) patients in the Chinese Han population, we enlisted 363 DCM cases and 414 healthy controls. Whole-exome sequencing and phenotypic characterization were conducted. In total, we identified 26 loss-of-function(LOF) candidates and 66 pathogenic variants from 33 genes, most of which were *** deleterious variants can account for 25.07%(91/363) of all patients. Furthermore, rare missense variants in 21 genes were found to be significantly associated with DCM in burden tests. Other than rare variants, twelve common SNPs were significantly associated with an increased risk of DCM in allele-based genetic model association analysis. Of note, in the cumulative risk model, high-risk subjects had a 3.113-fold higher risk of developing DCM than low-risk subjects. Also, DCM in the high-risk group had a younger age of onset than that in the low-risk group. In terms of cardiac function, the mean left ventricular ejection fraction of patients with the deleterious variants was lower than those without(27.73%±10.02% vs. 30.61%±10.85%, P=0.026).To conclude, we mapped a comprehensive atlas of genetic risks in Chinese patients with DCM that might lead to new insights into the mechanisms and risk stratification for DCM.

关键词： DCM genetics case-control risk stratification

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Early Postoperative Anticoagulation by Enoxaparin after Mechanical Aortic Valve Replacement

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World Journal of Cardiovascular Surgery 2014年第7期4卷 109-115页

作者： Younes Moutakiallah Mehdi Bamous Roland Henaine Jacques Robin Jean Francois Obadia Jean Ninet department of Cardiac Surgery C.Louis Pradel Cardiologic HospitalLyonFrance

Background: The use of low molecular weight heparin for early anticoagulation after mechanical aortic valve replacement is still a matter of debate even more that the early postoperative phase is associated with maximum of thrombo-embolic and bleeding risks. The objective of this study is to verify the efficacy and the safety of low molecular weight heparin for the early anticoagulation after mechanical aortic valve replacement. Methods and Results: It is a prospective study conducted over 6 months and interested 40 consecutive patients (32 male and 8 female) with a mean age 53.83 ± 16.93 years (19-75 years) who underwent a mechanical aortic valve replacement and received enoxaparin as bridging therapy between continuous unfractionated heparin and fully effective vitamin K antagonist therapy. There was no in-hospital death and no in-hospital thromboembolic events. We report 2 major bleeding events (5%). Conclusion: The use of low molecular weight heparin should be an alternative to explore for early anticoagulation after valve heart surgery and the results of our study must be verified by large randomized studies before drawing any hasty conclusions.

关键词： Early Anticoagulation Mechanical Aortic Valve Replacement Low Molecular Weight Heparin

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Health care service usage and costs for high-needs elderly patients with heart failure

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Journal of Geriatric Cardiology 2020年第9期17卷 580-584页

作者： Alessandra Buja Riccardo Caberlotto Carlo Pinato Giulia Grotto Maria Chiara Corti Francesco Avossa Elena Schievano Vincenzo Baldo department of cardiologic Vascular and Thoracic Sciencesand Public HealthUniversity of PaduaPadovaItaly School of Specialization in Hygiene Preventive Medicine and Public HealthUniversity of PaduaPadovaItaly Azienda Zero UnitàOperativa Complessa“Servizio Epidemiologico Regionale e Registri”Italy

Heart failure(HF)has been defined as global disease of pandemic proportions,since it affects around 26 million people worldwide.[1]According to a recent study,age is the most important factor influencing the prevalence of HF,as it is for most other chronic conditions.[2]This means that,with the predicted aging of the population(the proportion of the world’s population aged 60 years and over will nearly double from 2015 to 2050),[3]there will be a growth in the total burden of HF,and a rise in the number of comorbidities in HF *** to a recent study,almost 86%of adults with HF have two or more comorbid conditions.[4]Comorbidity,defined as the co-existence of one or more additional conditions in individuals with a specified index medical condition,[5]adds to the complexity of treating elderly patients with HF.

关键词： Heart failure Healthcare service costs Healthcare service usage Multimorbidity

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Machine learning modeling identifies hypertrophic cardiomyopathy subtypes with genetic signature

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Frontiers of Medicine 2023年第4期17卷 768-780页

作者： Jiaqi Dai Tao Wang Ke Xu Yang Sun Zongzhe Li Peng Chen Hong Wang Dongyang Wu Yanghui Chen Lei Xiao Hao Liu Haoran Wei Rui Li Liyuan Peng Ting Yu Yan Wang Zhongsheng Sun Dao Wen Wang Division of Cardiology Department of Internal MedicineTongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430030China Beijing Institutes of Life Science Chinese Academy of SciencesBeijing 100101China Hubei Key Laboratory of Genetics and Molecular Mechanism of cardiologic Disorders Huazhong University of Science and TechnologyWuhan 430030China

Previous studies have revealed that patients with hypertrophic cardiomyopathy(HCM)exhibit differences in symptom severity and prognosis,indicating potential HCM subtypes among these ***,793 patients with HCM were recruited at an average follow-up of 32.78±27.58 months to identify potential HCM subtypes by performing consensus clustering on the basis of their echocardiography ***,we proposed a systematic method for illustrating the relationship between the phenotype and genotype of each HCM subtype by using machine learning modeling and interactome network detection techniques based on whole-exome sequencing *** independent cohort that consisted of 414 patients with HCM was recruited to replicate the ***,two subtypes characterized by different clinical outcomes were identified in *** with subtype 2 presented asymmetric septal hypertrophy associated with a stable course,while those with subtype 1 displayed left ventricular systolic dysfunction and aggressive *** learning modeling based on personal whole-exome data identified 46 genes with mutation burden that could accurately predict subtype ***,the patients in another cohort predicted as subtype 1 by the 46-gene model presented increased left ventricular end-diastolic diameter and reduced left ventricular ejection *** employing echocardiography and genetic screening for the 46 genes,HCM can be classified into two subtypes with distinct clinical outcomes.

关键词： machine learning methods hypertrophic cardiomyopathy genetic risk

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A Severe but Predictable Complication of an Inflammatory Bowel Disease

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World Journal of Cardiovascular Surgery 2013年第5期3卷 129-130页

作者： Rossitto Giacomo Torregrossa Gianluca Testolin Luca Cesari Maurizio department of cardiologic Thoracic and Vascular Sciences Unit of Cardiac Surgery University Hospital Padua Italy department of Medicine University of Padova Padova Italy

We present a case report of broad medical interest since pertain to a severe but predictable complication of a not unusual disease as well as the inflammatory bowel diseases (IBD) whose incidence and prevalence are in... 详细信息

关键词： Infective Endocarditis Inflammatory Bowel Disease Floppy Mitral Valve

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Temporal echocardiography findings in patients with fulminant myocarditis: beyond ejection fraction decline

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Frontiers of Medicine 2020年第3期14卷 284-292页

作者： Houjuan Zuo Rui Li Fei Ma Jiangang Jiang Kun Miao Haojie Li Eike Nagel Marijana Tadic Hong Wang Dao Wen Wang Division of Cardiology Department of Internal MedicineTongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430030China Hubei Key Laboratory of Genetics and Molecular Mechanisms of cardiologic Disorders Wuhan 430030China department of Radiology Tongji Hospital Tongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430030China Institute for Experimental and Translational Cardiovascular Imaging DZHK Centre for Cardiovascular ImagingUniversity Hospital Frankfurt/MainFrankfurtGermany department of Internal Medicine and Cardiology Charité-Universit(a)tsmedizin BerlinAugustenburgerplatz 113353 BerlinGermany

The features of myocardial strains from speckle-tracking echocardiography (STE) have not been well defined in fulminant myocarditis (FM) *** this study,changes in the left ventricular ejection fraction (LVEF) and global and layer-specific myocardial strains over time were *** aimed to determine the echocardiographic patterns of FM and ascertain their significance in FM *** patients who were clinically diagnosed with FM and received mechanical life support were prospectively *** echocardiographic measurements were obtained,and serial strain echocardiography was performed from admission to hospital discharge until LVEF recovery (> 50%).Global/regional peak systolic longitudinal strains (GLS/RLS) and layer-specific longitudinal strains were quantified,and their changes with time were monitored in 14 FM *** patients had severely impaired cardiac *** improvement in LVEF and GLS were observed within 6 ***-specific strain analysis showed that reduction at admission or recovery at discharge in the endocardium and epicardium strains were *** conclusion,FM patients who received mechanical circulatory supports exhibited steep improvement in ventricular function within 6 *** patchy and diffused distribution pattern of reduced RLS and equally and severely impaired strain in the endocardium and epicardium are valuable features in the diagnosis of FM.

关键词： fulminant myocarditis acute myocarditis 2D speckle tracking echocardiography left ventricular function global longitudinal strain

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Identification of COL3A1 variants associated with sporadic thoracic aortic dissection: a case-control study

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Frontiers of Medicine 2021年第3期15卷 438-447页

作者： Yanghui Chen Yang Sun Zongzhe Li Chenze Li Lei Xiao Jiaqi Dai Shiyang Li Hao Liu Dong Hu Dongyang Wu Senlin Hu Bo Yu Peng Chen Ping Xu Wei Kong Dao Wen Wang Division of Cardiology Department of Internal MedicineTongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430030China Hubei Key Laboratory of Genetics and Molecular Mechanism of cardiologic Disorders Huazhong University of Science and TechnologyWuhan 430030China The First Affiliated Hospital of the Medical College Shihezi UniversityShihezi 832008China State Key Laboratory of Proteomics Beijing Proteome Research CenterNational Center for Protein Sciences(Beijing)Beijing Institute of LifeomicsBeijing 102206China department of Physiology and Pathophysiology School of Basic Medical SciencesPeking UniversityBeijing 100191China

Thoracic aortic dissection(TAD)without familial clustering or syndromic features is known as sporadic TAD(STAD).So far,the genetic basis of STAD remains *** exome sequencing was performed in 223 STAD patients and 414 healthy controls from the Chinese Han population(N=637).After population structure and genetic relationship and ancestry analyses,we used the optimal sequence kernel association test to identify the candidate genes or variants of *** found that COL3A1 was significantly relevant to STAD(P=7.35×10^(−6))after 10000 times permutation test(P=2.49×10^(−3)).Moreover,another independent cohort,including 423 cases and 734 non-STAD subjects(N=1157),replicated our results(P=0.021).Further bioinformatics analysis showed that COL3A1 was highly expressed in dissected aortic tissues,and its expression was related to the extracellular matrix(ECM)*** study identified a profile of known heritable TAD genes in the Chinese STAD population and found that COL3A1 could increase the risk of STAD through the ECM *** wanted to expand the knowledge of the genetic basis and pathology of STAD,which may further help in providing better genetic counseling to the patients.

关键词： sporadic thoracic aortic dissection exome sequencing gene COL3A1 case–control study extracellular matrix

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Characteristics of Thyroid Hormones in Hypertensive Hispanic Population

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Journal of Life Sciences 2012年第2期6卷 155-163页

作者： Rodrigo Verdugo Graciela Wendel Liliana Trujillo Guillermo Orellano Lucia Fuentes department of Pharmacology National University of San Luis San Luis 5700 Argentina D.O.S.P.U. cardiologic Center San Luis 5700 Argentina Orellano-Elorza Biochemical Laboratory San Luis 5700 Argentina

The aim was to characterize thyroid function in Hispanic hypertensive population. Retrospective study of 1,023 individuals was performed, in which 68.23% had hypertension （74.21% women） and 37.25% had thyroid pathology. Age, weight, blood pressure, biochemical measurements were recorded, mean age： 53.02 ± 14.80 yr, mean weight： 83.05 ±16.95 kg, thyrotropin-stimulating hormone （TSH） hypertensive patients： 5.55±1.63 μUI/mL and without hypertension： 3,72 ± 1.60 μUI/mL. TSH range concentration distributed by sex indicates： 1.50-2.49 μUI/mL men, 2.50-5.01 μUI/mL women. TSH categories vs. age were positively associated （r = ＋ 0.114, P = 0.044） and hypertension by age was also correlated （r = ＋ 0.178, P = 0.0001）. Significant positive association we found between TSH and diastolic blood pressure （r = ＋ 0.197, P = 0.008）. Systolic and diastolic blood pressure vs. age were positively increasing （r = ＋ 0.410,p = 0.0001; r = ＋0.285, P = 0.0001, respectively）. Prevalence of thyroid pathology in hypertensive subjects are hyperthyroidism 5.87%; hypothyroidism 20.34% （5.73% subclinic） and autoimmune disease 6.25%. High percentage of hypertensive population has concomitant thyroid diseases, more common in women （50-70 years）. Systematic surveillance for occult thyroid dysfunction in patients with hypertension could prevent future cardiovascular disease.

关键词： Thyroid hormones blood pressure thyroid pathologies patients Hispanic.

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Proper animal experimental designs for preclinical research of biomaterials for intervertebral disc regeneration

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Biomaterials Translational 2021年第2期2卷 91-142页

作者： Yizhong Peng Xiangcheng Qing Hongyang Shu Shuo Tian Wenbo Yang Songfeng Chen Hui Lin Xiao Lv Lei Zhao Xi Chen Feifei Pu Donghua Huang Xu Cao Zengwu Shao department of Orthopaedics Union HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhanHubei ProvinceChina Division of Cardiology Department of Internal MedicineTongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhanHubei ProvinceChina Hubei Key Laboratory of Genetics and Molecular Mechanism of cardiologic Disorders Huazhong University of Science and TechnologyWuhanHubei ProvinceChina department of Orthopaedic Surgery The First Affiliated Hospital of Zhengzhou UniversityZhengzhouHenan ProvinceChina department of Orthopaedic Surgery Institute for Cell EngineeringJohns Hopkins UniversityBaltimoreMDUSA.

Low back pain is a vital musculoskeletal disease that impairs life quality,leads to disability and imposes heavy economic burden on the society,while it is greatly attributed to intervertebral disc degeneration(IDD).However,the existing treatments,such as medicines,chiropractic adjustments and surgery,cannot achieve ideal disc ***,advanced bioactive therapies are implemented,including stem cells delivery,bioreagents administration,and implantation of biomaterials *** these researches,few reported unsatisfying regenerative ***,these advanced therapies have barely achieved successful clinical *** main reason for the inconsistency between satisfying preclinical results and poor clinical translation may largely rely on the animal models that cannot actually simulate the human disc *** inappropriate animal model also leads to difficulties in comparing the efficacies among biomaterials in different ***,animal models that better simulate the clinical charateristics of human IDD should be *** addition,in vivo regenerative outcomes should be carefully evaluated to obtain robust ***,many researches neglect certain critical characteristics,such as adhesive properties for biomaterials blocking annulus fibrosus defects and hyperalgesia that is closely related to the clinical manifestations,e.g,low back ***,in this review,we summarized the animal models established for IDD,and highlighted the proper models and parameters that may result in acknowledged IDD ***,we discussed the existing biomaterials for disc regeneration and the characteristics that should be considered for regenerating different parts of ***,well-established assays and parameters for in vivo disc regeneration are explored.

关键词： animal model biomaterials intervertebral disc preclinical evaluation translational medicine

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