43 results on '"Zhang, Shuyang"'
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2. Interpretation on Chinese Guidelines for the Diagnosis and Treatment of Heart Failure 2024
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TIAN Zhuang and ZHANG Shuyang
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heart failure ,diagnosis ,treatment ,guidelines ,interpretation ,Medicine - Abstract
In the past few years, there have been many breakthroughs in the treatment of heart failure, especially in drug therapy. The classification of chronic heart failure and treatment methods for heart failure and its complications are also constantly updated. In order to apply these achievements to a better diagnosis and treatment of heart failure patients in China, Chinese Society of Cardiology, Chinese Medical Association, Chinese College of Cardiovascular Physician, Chinese Heart Failure Association of Chinese Medical Doctor Association, Editorial Board of Chinese Journal of Cardiology have jointly published the Chinese Guidelines for the Diagnosis and Treatment of Heart Failure 2024, which comprehensively updates the new consensus and evidence-based treatment in the field of heart failure. These contents are of great significance for guiding diagnosis and treatment of heart failure patients in clinical practice. This article, therefore, aims to interpret the main updated contents and key points to provide readers with a better understanding of its key information.
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- 2024
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3. Study on Drug List and Accessibility of Rare Diseases Based on the China′s Second List of Rare Diseases
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LIU Qingyang, LIU Xin, ZUO Wei, WANG Shaohong, ZHANG Bo, and ZHANG Shuyang
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rare diseases ,orphan drugs ,accessibility ,the china′s second list of rare diseases ,Medicine - Abstract
Objective This study aims to sort out the rare disease drugs in the China′s Second List of Rare Diseases, to provide reference for the management of rare disease drug treatment. Methods Up to December 31, 2023, based on the China′s Second List of Rare Diseases, we sorted out the drugs approved in China with the drug label, or approved by the U.S. Food and Drug Administration(FDA) and the European Medicines Agency (EMA) for the treatment of the above diseases, and developed the second batch of rare disease drug catalog in China. The accessibility, localization and coverage of the national medical insurance were also analyzed. Results From the point of view of diseases, a total of 37 diseases in the China′s Second List of Rare Diseases have drug indications approved in China, and 10 diseases have drugs listed by the U.S. FDA/EMA and approved in China, but for off-label use. From the point of view of drugs, there are 55 drug indications approved for the treatment of the China′s Second List of Rare Diseases, and 22 drugs listed in the U.S. FDA/EMA and approved in the China, but for off-label use. Among the above-mentioned drugs with domestic approved rare disease indications or approved numbers, 39 drugs have at least one domestic approval number for a dosage form, covering 30 rare diseases; 37 drugs used for at least one rare disease are included in the national medical insurance catalog and are covered by reimbursement, covering 29 rare diseases. Conclusions The list of rare disease drugs in the China′s Second List of Rare Diseases was established. The number of rare disease drugs and covered diseases approved by China and the U.S. FDA/EMA has increased, and the number of rare disease drugs and covered diseases that are localized and included in the medical insurance catalog has also continued to increase.
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- 2024
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4. Current Status and Challenges of Guarantee for Rare Disease Drugs
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ZUO Wei, ZHANG Bo, and ZHANG Shuyang
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rare diseases ,orphan drugs ,guarantee for drugs ,drug paymemnt ,audit and approve ,Medicine - Abstract
In the past few years, China has pushed forward the availability of diagnosis and treatment of rare diseases. However, only 5% of patients receive effective treatment in the world. In China, the difficulties in having access to drugs against rare disease is still one of the major problems in medical service and the main cause of patients complaints for " difficulties in getting treatment" and " difficulties in getting drugs". The availability of the medication for rare disease is a coordinating mechanism involving multiple such points in the chain as in research and development, production, circulation, usage, way of payment, technology innovation and so forth. It also relates to the actors in supply, demand, and policy decision-makers. The complexity is different from that of common drugs. This article provides a brief overview of the current status of availability policies of medication for rare diseases in China and in other countries, as well as the technology in drug development. In addition, the article points out the problems, challenges and expectations for future possibilities.
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- 2024
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5. Preliminary Exploration on the Establishment of the Department of Rare Diseases at Peking Union Medical College Hospital
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SHEN Min and ZHANG Shuyang
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rare diseases ,department of rare diseases ,multidisciplinary team ,Medicine - Abstract
The establishment of the Department of Rare Diseases at Peking Union Medical College Hospital (PUMCH) is a landmark in the disciplinary development of the rare diseases. The establishment of the department will booster the prominence of the influence and leading position of the PUMCH in the field of rare diseases. In addition, the department is instrumental in the development of the hospital of high-quality. The department aims at delivery of better medical care for patients with rare diseases, the training of specialists in rare diseases, and avancement of the preventing and treating rare diseases in China.This paper preliminarily discusses the working basis, significance and discipline development plan of the department of rare diseases at PUMCH.
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- 2024
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6. Thoughts on Selection of Rare Diseases and Prioritized Research Topics
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LI Kexin, CHEN Jingdan, ZHANG Dingding, GUO Wudong, ZHENG Jiayin, LI Linkang, ZHAO Kun, and ZHANG Shuyang
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rare diseases ,disease selection ,prioritized topics ,multi-criteria decision analysis ,Medicine - Abstract
This article combs and summarizes the entire process of rare disease selection and priority theme determination, including the application and preliminary review of rare diseases, standardization of disease theme information, the evaluation methods of evidence sorting and disease selection for priority selection of disease themes, and other aspects of the content were analyzed in depth. It is expected to provide reference for the subsequent selection of rare diseases, improve the fairness, rationality and scientificity of rare disease selection, and further promote research and decision-making in China′s rare disease-related fields.
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- 2024
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7. Trends in Rare Disease Drug Development
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CHEN Rui and ZHANG Shuyang
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Medicine - Published
- 2024
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8. Professional Competence for Clinicians: Assessment Methods and Research Progress
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ZHANG Hanlin, HE Zitang, LI Yue, LUO Linzhi, and ZHANG Shuyang
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physician ,professional competence ,medical education ,position evaluation ,Medicine - Abstract
Professional competence is defined as the habitual and judicious use of communication, knowledge, technical skills, clinical reasoning, emotions, values, and reflection in daily clinical practice. At present, many studies focus on the application of professional competence to medical education and job evaluation in China. However, further theoretical and empirical research is still needed to facilitate Chinese medical education and physician career development in the future. This article reviews the assessment methods and dimensions of professional competence, as well as the research progress of professional competence in China, with the aim of providing reference for Chinese medical education and physician career development.
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- 2023
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9. A Patient-Centric, Coordinated Care Model for Rare Diseases: The Multidisci-plinary Consultation Program at Peking Union Medical College Hospital
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XIE Jing and ZHANG Shuyang
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Medicine - Published
- 2024
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10. The Development of Guidelines for Rare Diseases: Past, Present and Future
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ZHOU Qi, LI Qinyuan, LIU Yali, LUO Zhengxiu, ZHANG Weishe, CHEN Tong, LI Guobao, SHANG Hongcai, YANG Kehu, ZHANG Bo, CHEN Yaolong, and ZHANG Shuyang
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rare diseases ,clinical practice guideline ,guideline development ,Medicine - Abstract
Although the incidence of rare diseases is extremely low, 6% to 8% of the global population are affected by more than 7000 rare diseases. Rare diseases guidelines are playing an increasingly important role as guiding documents in improving the health outcomes of patients with rare diseases. Therefore, we aim to systematically elaborate on the status quo, challenges and opportunities of rare disease guidelines at home and abroad, and put forward thoughts and suggestions on promoting the development of rare diseases guidelines in the future.
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- 2023
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11. Familial Hypercholesterolemia
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FENG Siqin, TANG Muyun, WU Wei, and ZHANG Shuyang
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familial hypercholesterolemia ,low-density lipoprotein cholesterol ,proprotein convertase subtilisin/kexin type 9 inhibitors ,Medicine - Abstract
Familial hypercholesterolemia (FH) is a group of autosomal co-dominant genetic diseases mainly characterized by abnormal low-density lipoprotein related metabolism. It is one of the most common inherited diseases in children and one of the most serious lipid metabolism diseases which results in various life-threatening cardiovascular diseases and the complications. In recent years, the treatment protocols for FH have diversified thanks to the deeper understanding of the disease in China and abroad and the development of new lipid-lowering drugs. However, the current awareness and diagnosis rate of FH are very low. The treatment of the disease is much inadequate. This paper summarizes the clinical characteristics, diagnosis, screening strategy, and treatment of FH hoping to enhance the understanding and awareness of the disease in the society.
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- 2023
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12. Advances in the Diagnosis and Treatment of Rare Cardiovascular Diseases
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ZHANG Shuyang, TIAN Zhuang, ZHANG Shuyuan, and WANG Zeyuan
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rare diseases ,cardiovascular diseases ,diagnosis ,treatment ,Medicine - Abstract
The onset of rare cardiovascular diseases is early and the mortality is high. The patients of the disease face a long time of hardship in diagnosis and a low treatment rate. As a result, it is urgent to improve the diagnosis and treatment level of rare diseases and to accelerate the selection and R&D of drugs of rare cardiovascular diseases. In recent years, with the rapid development of new technology and basic research, the diagnosis and treatment of rare cardiovascular diseases have made breakthroughs. The article summarizes the research progress in diagnosis and treatment of rare cardiovascular diseases and looks into the future of the research.
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- 2023
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13. Progress in New Therapies Targeting the Pathogenesis of Cardiomyopathywith Hypertrophic Phenotype
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LIU Yanbo, TIAN Zhuang, and ZHANG Shuyang
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hypertrophic cardiomyopathy ,myosin inhibitor ,tafamidis ,enzyme replacement therapy ,transthyretin cardiac amyloidosis ,Medicine - Abstract
Hypertrophic cardiomyopathy (HCM) is cardiomyopathy with a clinical phenotype of cardiac hypertrophy. The etiology includes genetically defective encoding sarcomeres, congenital metabolic diseases such as lysosomal storage diseases, systemic amyloidosis such as transthyretin amyloidosis(ATTR), and Fabry disease. Previous therapies did not target the etiology and pathogenesis and therefore were less effective. In recent years, treatments targeting different mechanisms of myocardial hypertrophy have achieved good results. Mavacamten can reduce myocardial contractility by inhibiting ATP activity, thereby significantly improving left ventricular outflow tract(LVOT) obstruction, cardiac contractility, ventricular tension, and limitting myocardial damage. By inhibiting the dissociation of transthyretin(TTR) and subsequent formation and deposition of the amyloid fibril, tafamidis can reduce the mortality and morbidity of patients with transthyretin cardiac amyloidosis(ATTR-CA). Gene silencing and gene editing technology can reduce abnormal TTR levels. Synthesis of α-galactosidase A by gene recombination technology in vitro can effectively reduce left ventricular mass index(LVMi), improve cardiac function, reduce angina attacks and decrease mortality of Fabry disease.
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- 2023
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14. A Case Report of Homozygous Familial Hypercholesterolemia Liver Transplantation
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CHEN Peipei, TIAN Zhuang, CHEN Wei, MA Mingsheng, LIU Xin, QIN Yan, XU Haifeng, ZHU Zhijun, and ZHANG Shuyang
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homozygous familial hypercholesterolemia ,liver transplantation ,low-density lipoprotein cholesterol(ldl-c) ,Medicine - Abstract
Homozygous familial hypercholesterolemia (HoFH) is a rare and serious autosomal genetic metabolic disease. Patients without intervention often die younger than 30 years old from early atherosclerotic cardiovascular disease (ASCVD)incurred by extremely high levels of low-density lipoprotein cholesterol (LDL-C). We present a case of HoFH, a child with compound heterozygous mutation in this study. The effect of conventional lipid-lowering therapy through diet control and lipid-lowering drugs was unsatisfactory. The blood-lipid purification proves effective but has poor compliance and difficult to maintain for a longer time. The patient received orthotopic liver transplantation and had been followed for 2 years, with the patient shows normal LDL-C, well growth and development. We hope the case will provide the clinician with better understanding of the diagnosis and treatment of the rare disease of HoFH.
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- 2023
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15. The Interpretation and Update of the Diagnosis Pathway of Chinese Expert Consensus on the Diagnosis and Treatment of Transthyretin Cardiac Amyoidosis
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TIAN Zhuang and ZHANG Shuyang
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transthyretin cardiac amyloidosis ,transthyretin ,diagnosis ,treatment ,Medicine - Abstract
Transthyretin cardiac amyloidosis (ATTR-CA) is caused by the deposition of transthyretin(TTR) in the myocardial interstitium. Its clinical manifestations are mainly heart failure and arrhythmia, leading to poor life quality and low survival rate. Diagnosis is often delayed or missed due to the lack of disease awareness, the non-specific clinical symptom presentation of the disease, and inadequacy of non-invasive diagnostic methods and medications in the past. The recent availability of effective treatments makes the early recognition and diagnosis especially critical, because treatment is likely more effective earlier in the disease course. Therefore, it is crucial to establish a diagnosis and treatment strategy to facilitate the rapid and accurate identification of the disease. Based on the advances in research and experiences gained ATTR-CA, our team has developed a consensus on diagnosis and treatment for the disease. In this article, we interpret the key points and present the update of diagnostic process, providing clinicians with an overview of key aspects of ATTR-CA in China.
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- 2023
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16. The Exploration and Analysis of Constructing a Multiple Health Security System for Rare Diseases in China
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TAO Libo, WANG Fangxu, JIA Fanghong, YANG Yulin, ZHENG Jiayin, and ZHANG Shuyang
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rare diseases ,multiple security system ,healthcare security ,Medicine - Abstract
Health security for rare diseases has aroused much attention in the society nowadays, In this article, we analyzed in-depth the construction of rare diseases health security in China by studying the literature reviews, expert interviews, and reports of pilot policy investigations. We conclude in the study that it is an important step to constructing a multiple health security system for the rare disease making the basic health security as the cornerstone. For rare medications and treatments that cannot be covered by the current national health insurance, it is necessary to build an specific funding for rare disease funding as a means of safeguard. Finally, for those who are financially disadvantages, the system should involve relief and philanthropy to help them. By constructing a multiple health security system, rare diseases patients in our country will get a well-covered health care.
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- 2023
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17. Interpretation on Management Guideline for the Off-label Use of Drugs in China(2021 Edition)
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ZUO Wei, LIU Rongji, SUN Yajia, ZHANG Bo, CHEN Yaolong, and ZHANG Shuyang
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off-label use of drugs ,management ,evidence-based medicine ,hierarchical management ,guideline interpretation ,Medicine - Abstract
Off-label drug use represents a reasonable need for diagnosis and treatment in some cases, but it faces potential risks with drug safety and legal challenges. However, there was no guideline on how to manage the off-label drug use in China. Therefore, Peking Union Medical College Hospital, in cooperation with Evidence-based Medicine Center of Lanzhou University, established a working group and an expert group consisting of multidisciplinary group of experts to develop the Management Guideline for the Off-label Use of Drugs in China (2021). The Guideline is guided by the Law on Doctors of the People's Republic of China and the World Health Organization Guideline Development Manual. This is the first management guideline on the off-label use of drugs, aiming to improve the stakeholders' understanding of this topic and establish a standardized management procedure in China. This guideline has determined nine questions and proposed a total of twenty-three recommendations. The English version of the guideline was published in September 2022. This paper offers a detailed interpretation of the key points of the guidelines in order to provide suggestions and references for the management of off-label drug use.
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- 2023
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18. Gut Microbiome and Cardiovascular Health: Heart and Gut are Inextricably Linked
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ZHAO Xinyue, HU Xiaomin, and ZHANG Shuyang
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gut microbiome ,cardiovascular disease ,metabolites ,immunity ,Medicine - Abstract
In recent years, with the progress of multi-omics and next-generation sequencing technology, the association between gut microbiome and cardiovascular diseases has attracted great attention around the world. Gut microbiota, as a 'microbial organ', directly regulates the host's health status through lipopolysaccharide, metabolites like trimethylamine oxide and short-chain fatty acids, and affects the host's immunity through bacteria and their products. 'Gut-heart axis' may be a breakthrough in the prevention and treatment of cardiovascular diseases. The paper briefly discusses the relationship between gut microbiome and cardiovascular diseases, the possible ways in which gut microbes affect cardiovascular health, and the regulation of gut microbiota by various factors.
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- 2022
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19. Exploration on the Training and Evaluation Mode of Clinical Postdoctoral Trainees in Radiology Department Based on Core Competence
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CHEN Yu, XUE Huadan, ZHANG Daming, SHI Yuxi, SUN Hao, DING Ning, SU Tong, ZHU Huijuan, JIN Zhengyu, and ZHANG Shuyang
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core competency ,clinical postdoctoral trainee ,radiology ,Medicine - Abstract
The postdoctoral training program of clinical medicine explores a new form of medical elite education in China. As one of the first pilot departments of the clinical postdoctoral program of Peking Union Medical College Hospital, Radiology Department has established a clinical postdoctoral training system and optimized the evaluation and feedback system, taking into account the work characteristics and based on the six core competence objectives proposed by the consensus of the resident core competence framework of China Resident Training Elite Teaching Hospital Alliance. This program has thus become a post-graduation education project for training Chinese compound radiology elites, which can in turn provide reference for the implementation of similar projects in other teaching hospitals.
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- 2022
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20. Retrospective on Establishing Rare Diseases Medical Service System and Research Platform in China
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ZHU Yicheng and ZHANG Shuyang
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rare diseases ,registry system ,multiple discipline team ,Medicine - Abstract
Rare diseases refer to diseases characterized by very low prevalence rate but causing serious public health problem in the society. The diagnosis and treatment of the diseases pose great challenges.During the period of 13th Five-Year, China has accelerated the pace in all aspects targeting on policy support and scientific research in the rare diseases and on patients having the diseases. The efforts include establishing the cataglog for rare disease, introducing a series of policies to accelerate the R & D of drugs, upgrading the standardization of the diagnosis and treatment competences and so forth. In addtion, the establishment of National Rare Diseases Registry System(NRDRS) has been instrumental in knowing the burden of the diseases and enhancing the scientific research to rare diseases.
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- 2022
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21. Artificial Intelligence Supports Research Progress in the Diagnosis and Treatment of Rare Diseases
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GONG Mengchun, JIAO Yuanshi, MA Wuren, LIU Peng, JIN Ye, HU Jifa, NIU Ling, SHI Wenzhao, and ZHANG Shuyang
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artificial intelligence ,machine learning ,rare disease ,diagnosis ,treatment ,drug repositioning ,drug development ,Medicine - Abstract
It is noteworthy that only 5% of more than 7000 described rare diseases are treated. In the era of big data, there is ever-increasing data for understanding biomedicine. The need for efficient and rapid data collection, analyses and characterization methods is pressing. Rare diseases can particularly benefit from artificial intelligence (AI) application. AI, with an emphasis on machine learning, creates a path for such efforts and is being applied to diagnosis and treatment. AI has demonstrated its potential to learn and analyze data from different sources with results in prediction。Presently, there are AI-driven technologies applied for rare diseases and this review aims to summarize these advances. Moreover, this review scrutinizes the limitation and identifies the pitfalls of AI applications in the diagnosis and treatment of rare diseases.
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- 2022
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22. Construction and Application of National Rare Diseases Registry System of China
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GUO Jian, LIU Peng, JING Zhicheng, LIU Jianmin, CHENG Jingqiu, DING Jie, GU Weihong, CHEN Limeng, ZHU Yicheng, and ZHANG Shuyang
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rare diseases ,registry ,clinical trial ,Medicine - Abstract
Rare diseases have been a major challenge for clinical medicine and public health challenge in China. One of the effective measures is to conduct proactive research on rare diseases to deal with the disease burden of the diseases. However, low prevalence, disperse distribution of patients, lack of knowledge about the disease course, and phenotype heterogeneity hamper the development of research for rare diseases. Recently, it has been found that patients registry is effective in understanding the course of the disease and accu- mulating the cases and data of clinical research or clinical trial design. At present, most of developed countries or regions in the world have promoted clinical research and clinical trials of new medications on rare diseases by using the registration of rare disease. In 2016, Peking Union Medical College Hospital established China's first registry system at the national level-National Rare Disease Registry System of China(NRDRS). NRDRS has accumulated 68 137 cases data registered by the researchers from China's 101 collaborating hospitals in 29 provinces/municipalities/autonomous regions, covering 171 different, and forming 188 cohorts. To date, NRDRS complete the initial stage of resources buildup.Nex stage will be focused on clinical research and clinical trials related to rare diseases based on NRDRS. This article is on the process of building NRDRS, the potential support for conducting clinical research and clinical trials related to rare diseases, and the challenges will be faced.
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- 2022
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23. Recent Polices and Practice in Rare Diseases in China
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ZHANG Shuyang and ZHANG Xue
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rare disease ,prevention, diagnosis and treatment ,healthcare and security ,policy ,Medicine - Abstract
Rare disease (RD)is the general term for a class of diseases with very low prevalence.Due to the relatively small number of patients with rare diseases, the diagnosis and treatment, drug research and development, medical safeguard, and scientific research of rare diseases are poorly developed, which highlight the difficulty in diagnosis and treatment, lack of availability of treatment drugs, and lower rate of medical safeguard. In 2018, China's First Edition of Rare Diseases Catalogue was published, which for the first time defined the management scope of rare diseases and promoted research development in field of RD.Since the 13th Five-Year Plan, China has launched a series of policies and measures outlining prevention and treatment of rare diseases, drug research and development, registration, accessing healthcare, and scientific research.In order to further improve the diagnosis, treatment, and management of rare diseases, and better safeguard the health rights and interests of patients with RDs, this paper focuses on the policies and exploration and practice related to rare diseases in China in recent years, and makes suggestions for future policy reviews.
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- 2022
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24. Consensus to 99mTechnetium-Pyrophosphate Scintigraphy in the Diagnosis of Transthyretin-related Cardiac Amyloidosis
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REN Chao, TIAN Zhuang, HE Shan, WANG Xuezhu, HAO Zhixin, DING Jie, ZHANG Shuyang, and HUO Li
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99mtechnetium-pyrophosphate ,transthyretin-related amyloidcardiomyopathy ,single-photon emission computed tomography ,Medicine - Abstract
Transthyretin-related amyloid cardiomyopathy (ATTR-CM) is a disease caused by the depo-sition of insoluble amyloid fibers formed by the misfolding of transthyretin precursor protein in the intercellular space of cardiomyocytes. This lesion may lead to myocardial dysfunction, cogestive heart failure, and death.When diagnosed earlier, the patient can be treated with drugs as soon as possible to intervene in the progress of the disease, so as to effectively improve the patient's prognosis.99mtechnetium-pyrophosphate (99Tcm-PYP)single-photon emission computed tomography (SPECT) has been widely used in the imaging examination of cardiac amyloidosis (CA) in recent years. While achieving early non-invasive diagnosis, accurate pathological classification can be obtained through Perugini visual score analysis, semi-quantitative analysis of heart to contralateral lung (H/CL) ratio, and SPECT image analysis. This article presents the application, methods, and the precautions of 99Tcm-PYPSPECT in the diagnosis of ATTR-CM, aiming to provide clinical reference for the application of this technology.
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- 2022
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25. Exploration of Education for Complex Elite Medical Talents in the Department of Internal Medicine at Peking Union Medical College Hospital: A Summary of Clinical Medical Postdoctoral Project Since 2016
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LI Jing, LI Hang, YANG Yingyun, XIA Peng, LI Xiaoqing, LI Yue, YAN Xiaowei, ZHU Huijuan, PAN Hui, ZHANG Fengchun, and ZHANG Shuyang
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clinical medical postdoctoral project ,stratified training mode ,evaluation and feedback system for progressive training ,360 degree evaluation system ,simulated teaching courses ,Medicine - Abstract
The clinical medical postdoctoral project is a complex elite national project of post-graduation supported by the Ministry of Human Resources and Social Security. Since the 2016 academic year, the department of internal medicine at Peking Union Medical College Hospital has launched, modified and developed this project on multiple aspects, including the stratified training mode, 360 degree evaluating system, system of evaluation and feedback for progressive training, and program of simulation. During the process of implementing this project, we continued the improving process according to the feedback from multiple aspects. In this article, we demonstrated the innovation of this project and summarized our experience during the implementing process, hopefully to provide reference for cultivating a complex medical elite with international vision.
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- 2022
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26. Exploration and Practice of the Training System of Comprehensive Medical Talents at Peking Union Medical College Hospital
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ZHANG Shuyang
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medical education ,personnel training ,clinical postdoctoral trainee ,core competency ,Medicine - Abstract
With the significant improvement of China's social and economic level, people's demand for high quality medical services is growing rapidly. There is an urgent need for more clinicians with solid foundations, excellent technology, and highly comprehensive quality. Peking Union Medical College Hospital (PUMCH) has continuously inherited and innovated the training model of outstanding medical talents. Based on previous experience, literature, and results of pilot research, PUMCH has explored and implemented the 'Clinical Postdoctoral Program' since 2016, which is one of the innovations in postgraduate medical education in China, aiming at highly efficiently and continuously strengthening the students' ability of clinical practice, scientific research and teaching. This program cultivates high-level medical elite by optimizing the course system, innovating training mode, regrouping the faculty team, building effective evaluating and examining system, which provides a new train of thought and experience, and plays a significant role in the reserve forces of the development of national medical talents for the strategic goal of 'Healthy China'.
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- 2022
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27. Advances in Rare Diseases in China (2020—2021)
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HE Shan, GAO Shiqi, HE Xinyue, LIU Peng, JIN Ye, LI Xiangyan, ZHU Yicheng, CHEN Limeng, ZHU Weiguo, and ZHANG Shuyang
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rare disease ,china ,policy ,rare disease drugs ,epidemiology ,Medicine - Abstract
In 2020 and 2021, great progress was made in the field of rare diseases in China. In the aspect of rare disease related policies, China built the National Key Laboratory of Rare Diseases and prepared for the National Quality Control Center of Rare Diseases. China has granted zero tariffs on raw materials and drugs for rare diseases since 2021, and the number of rare diseases included in health insurance in local areas has increased. In the aspect of drugs for rare disease, during the past two years, 14 drugs for rare diseases were included in the system of national health insurance; 13 were approved by China National Medical Products Administration; and more gained the qualification for prior review. In the aspect of patient registration and epidemiological study of rare diseases, China enabled the National Rare Diseases Registry System and set up the registry regime. The first epidemiological study of myasthenia gravis in China was published. The screening programof lysosomal storage syndrome and the first cohort study on achondroplasia in China were started. Besides the official policies and channels, organizations and informational platforms for patients also played an important role in the field of rare diseases.
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- 2022
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28. Autonomy of Patients and Informed Consent in Clinical Practice
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XIE Jing, LI Shu, ZHU Ling, and ZHANG Shuyang
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patient autonomy ,informed consent ,clinical ,medical ethics ,Medicine - Abstract
This article addresses the ethical issues of respect for autonomy and informed consent, focusing on how clinicians should deal with these concepts in clinical practice. We first clarify the concept of respect for autonomy and its practical application, as well as informed consent. We then track the origin and development of informed consent both in western countries and in China. Followed by describing several challenges that limit the practice of informed consent, we make our suggestions so as to help clinicians handle the informed consent in daily practice.
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- 2022
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29. Recent Advances of Epigenetics in Heart Failure.
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ZHANG Yang, ZHANG Zhiyu, WANG Hui, and ZHANG Shuyang
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- 2020
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30. [Challenges of Investigator-initiated Clinical Trials to Support the New Drug Development].
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Bai H and Zhang S
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- China, Drug Development, Humans, Research Personnel, Lung Neoplasms
- Abstract
A large number of investigator-initiated clinical trials (IIT) were conducted in China, some of them should play an important supporting role in new drug development. Due to the large number, small scale and uneven quality of IIT in China, especially a big gap between the IIT and industry-sponsored trials in terms of protocol design, quality management and ethical review, many IIT can't be used to support the new drug development. Therefore, it is necessary for regulatory authorities, sponsors, research institutions, ethics committees and researchers to improve their understanding of the role of IIT. In order to support the new drug development with high-quality IIT, formulating supervising system, establishing an effective quality management system, enhancing the training of researchers and improving the ability of ethical review should be implemented effectively. .
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- 2022
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31. [Clinical Recommendations for Perioperative Immunotherapy-induced Adverse Events in Patients with Non-small Cell Lung Cancer].
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Ni J, Huang M, Zhang L, Wu N, Bai C, Chen L, Liang J, Liu Q, Wang J, Wu Y, Zhang F, Zhang S, Chen C, Chen J, Fang W, Gao S, Hu J, Jiang T, Li S, Li H, Liao Y, Liu Y, Liu D, Liu H, Liu J, Liu L, Wang M, Wang C, Yang F, Yang Y, Zhang L, Zhi X, Zhong W, Guan Y, Guo X, He C, Li S, Li Y, Liang N, Lu F, Lv C, Lv W, Si X, Tan F, Wang H, Wang J, Yan S, Yang H, Zhu H, Zhuang J, and Zhuo M
- Subjects
- Carcinoma, Non-Small-Cell Lung genetics, Carcinoma, Non-Small-Cell Lung immunology, Carcinoma, Non-Small-Cell Lung surgery, China, Clinical Trials as Topic, Humans, Lung Neoplasms genetics, Lung Neoplasms immunology, Lung Neoplasms surgery, Perioperative Period statistics & numerical data, Carcinoma, Non-Small-Cell Lung drug therapy, Immunotherapy adverse effects, Lung Neoplasms drug therapy
- Abstract
Background: Perioperative treatment has become an increasingly important aspect of the management of patients with non-small cell lung cancer (NSCLC). Small-scale clinical studies performed in recent years have shown improvements in the major pathological remission rate after neoadjuvant therapy, suggesting that it will soon become an important part of NSCLC treatment. Nevertheless, neoadjuvant immunotherapy may be accompanied by serious adverse reactions that lead to delay or cancelation of surgery, additional illness, and even death, and have therefore attracted much attention. The purpose of the clinical recommendations is to form a diagnosis and treatment plan suitable for the current domestic medical situation for the immune-related adverse event (irAE)., Methods: This recommendation is composed of experts in thoracic surgery, oncologists, thoracic medicine and irAE related departments (gastroenterology, respirology, cardiology, infectious medicine, hematology, endocrinology, rheumatology, neurology, dermatology, emergency section) to jointly complete the formulation. Experts make full reference to the irAE guidelines, large-scale clinical research data published by thoracic surgery, and the clinical experience of domestic doctors and publicly published cases, and repeated discussions in multiple disciplines to form this recommendation for perioperative irAE., Results: This clinical recommendation covers the whole process of prevention, evaluation, examination, treatment and monitoring related to irAE, so as to guide the clinical work comprehensively and effectively., Conclusions: Perioperative irAE management is an important part of immune perioperative treatment of lung cancer. With the continuous development of immune perioperative treatment, more research is needed in the future to optimize the diagnosis and treatment of perioperative irAE.
- Published
- 2021
- Full Text
- View/download PDF
32. [Screening of LDLR gene mutations in nine patients with familial hypercholesterolemia].
- Author
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Meng X, Si N, Shen Y, Wang Q, He J, Lu C, Wu W, Zhang S, and Zhang X
- Subjects
- DNA Mutational Analysis, Genetic Testing, Humans, Mutation, Phenotype, Hyperlipoproteinemia Type II genetics, Receptors, LDL genetics
- Abstract
Objective: To screen for LDLR gene mutations in 9 patients with familial hypercholesterolemia (FH)., Methods: All exons of the LDLR gene and flanking intronic sequences were amplified by PCR and subjected to automatic DNA sequencing. For patients with homozygous or compound heterozygous mutations, parental DNA sequencing or T cloning sequencing was carried out to determine the parental origin of the mutant alleles., Results: Direct sequencing of PCR products revealed 8 LDLR variants in 7 patients, which included c.259T>G, c.513delC, c.530C>T, c.682G>T, c.763C>T, c.1187-10G>A, c.1948delG, and c.1730G>A, among which c.1948delG was novel. Four patients have carried heterozygous mutations, two carried homozygous mutations, and one carried compound heterozygous mutations. The patients with biallelic mutations presented with a more severe phenotype compared those carrying heterozygous mutations., Conclusion: LDLR mutations were identified in 7 out of 9 patients with FH. Among the 8 identified LDLR mutations, c.1948delG was firstly reported. Above findings have expanded the mutation spectrum of LDLR gene.
- Published
- 2018
- Full Text
- View/download PDF
33. [Development tendency of domestic professional cardiac rehabilitation: clinical practice situation from today to tomorrow].
- Author
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Zhang S
- Subjects
- Humans, Heart Diseases rehabilitation
- Published
- 2016
- Full Text
- View/download PDF
34. [Activated clotting time post therapeutic anticoagulation with unfractionated heparin in patients undergoing elective percutaneous coronary intervention].
- Author
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Li J, Liu Z, Zhang S, Shen Z, Fan Z, Zeng Y, Xie H, Wang C, Jin X, Fang Q, and Zhu W
- Subjects
- Aged, Coronary Disease, Female, Hemorrhage epidemiology, Humans, Male, Middle Aged, Retrospective Studies, Risk Factors, Treatment Outcome, Anticoagulants therapeutic use, Heparin therapeutic use, Percutaneous Coronary Intervention, Whole Blood Coagulation Time
- Abstract
Objective: To investigate the activated clotting time (ACT) level after administration of guideline-recommended dose of unfractionated heparin (UFH) and to confirm the importance of ACT monitoring in percutaneous coronary intervention (PCI)., Methods: We performed a retrospective study on 1 062 patients undergoing elective PCI in Peking Union Medical College Hospital from May 1, 2011 to December 31, 2012. All patients were administrated weight-adjusted UFH (70-100 U/kg) based on PCI guideline of ACCF/AHA/SCAI. Patients were divided into 3 groups: ACT < 300 s (598 cases), ACT 300-350 s (183 cases) and ACT > 350 s (281 cases). ACT level and factors that may affect UFH anticoagulation were analyzed., Results: (1) The mean age was (63.0 ± 10.6) years and 751 (70.7%) patients were men. The mean weight was (70.5 ± 11.7) kg, and the mean UFH dose used was (100.7 ± 9.1) U/kg. (2) The median ACT was 285 (240-352) s after the UFH use. Pre-defined ACT target (300-350 s) was achieved only in 17.2% (183/1 062) patients. (3) Age, gender, height, weight, UFH/weight and the risk factors of coronary heart disease were similar among 3 groups (all P > 0.05). Multifactor linear correlation analysis showed that UFH/weight was related to ACT level (r = 0.07, P < 0.01), but other factors were not related to ACT level (all P > 0.05). (4) Among 598 patients with ACT < 300 s, 444 (74.2%) patients received additional UFH. No major bleeding events were observed in 1 062 patients. The incidence of minor bleeding and ischemic complications within 48 h after procedure were similar among 4 groups of ACT < 300 s with additional UFH, ACT < 300 s without additional UFH, ACT 300-350 s and ACT > 350 s (all P > 0.05)., Conclusions: In this single-center study, only a small proportion of patients reached the ACT target after administration of weight-adjusted UFH. Our results supported the recommendation of ACT monitoring in current PCI guideline to improve efficacy and safety of UFH anticoagulation therapy.
- Published
- 2015
35. [Influence of gender on 30-day outcomes of patients undergoing primary percutaneous coronary intervention for ST-segment elevation myocardial infarction].
- Author
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Wang H, Liu Z, Zhang S, Shen Z, Fan Z, Zeng Y, Xie H, Wang C, Jin X, Fang Q, and Zhu W
- Subjects
- Acute Disease, Aged, Aged, 80 and over, Cause of Death, Female, Humans, Hypertension, Male, Multivariate Analysis, Proportional Hazards Models, Risk Factors, Sex Factors, Time Factors, Myocardial Infarction therapy, Percutaneous Coronary Intervention
- Abstract
Objective: To investigate the impact of gender on early outcomes of patients with acute ST-segment elevation myocardial infarction (STEMI) who were treated with primary percutaneous coronary intervention (PCI) as their reperfusion strategy., Methods: The present study included consecutive patients with STEMI treated with primary PCI in our hospital from November 2003 to December 2012. Gender difference and predictors of 30 day all-cause death were examined among 957 patients, 197 of whom were women (20.6%). The impact of gender on 30 all-cause death was further evaluated by a propensity-matched analysis to adjust the differences in baseline characteristics between men and women., Results: Compared with men, women were older ((69.4±10.2) years old vs. (60.6±12.6) years old, P<0.001), more likely to have hypertension (72.1% (142/197) vs. 54.6% (415/760), P<0.001) and diabetes (45.2% (89/197) vs. 32.4% (246/760), P = 0.001), but less likely to be treated with β-blockers (85.3% (168/197) vs. 92.0% (699/760), P = 0.006) and angiotensin converting-enzyme inhibitors/angiotensin-receptor blockers (82.2% (162/197) vs. 88.4% (672/760), P = 0.024). Symptom-to-balloon time was longer in women than in men (330 (240, 600) minutes vs. 270 (180, 450) minutes, P < 0.001). Multivariate linear regression analysis of log-transformed symptom-to-balloon time revealed that female gender was an independent predictor of longer symptom-to-balloon time (β = 0.141, 95% confidence interval (CI) 0.053-0.228, P = 0.002). Women with STEMI had higher unadjusted 30 day all-cause death (12.6% vs. 4.2%, P < 0.001) than men. Female gender independently predicted 30 day all-cause mortality both with (hazard ratio (HR) = 3.497, 95% CI 1.485-8.234, P = 0.004) and without (HR = 2.495, 95% CI 1.170-5.323, P = 0.018) the adjustment for baseline characteristics by propensity-matched analysis., Conclusions: Even with primary PCI as their reperfusion strategy, women with STEMI had higher 30 day all-cause death than men. Aggressive control of cardiovascular risk factors, adequate medical treatment and shortening of delay in reperfusion therapy might further improve the outcomes of female STEMI patients undergoing primary PCI.
- Published
- 2015
36. [The values of the new American Diabetes Association Diagnostic Criteria for screening of pre-diabetes and diabetes in patients undergoing elective coronary angiography].
- Author
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Zhao X, Ye Y, and Zhang S
- Subjects
- Acute Coronary Syndrome, Blood Glucose analysis, China epidemiology, Coronary Angiography, Diabetes Mellitus ethnology, Female, Glucose Intolerance, Glucose Tolerance Test, Glycated Hemoglobin, Humans, Male, Prediabetic State ethnology, United States, World Health Organization, Asian People statistics & numerical data, Diabetes Mellitus classification, Diabetes Mellitus diagnosis, Mass Screening methods, Prediabetic State diagnosis
- Abstract
Objective: Glycosylated hemoglobin A1c (HbA1c) has become one of key components in new American Diabetes Association (ADA) diagnostic criteria for pre-diabetes and diabetes, which is not included in the World Health Organization (WHO) 1999 criteria. Thus, we aimed to compare the two criteria in diagnosis of pre-diabetes and diabetes in patients with non-acute coronary syndrome (non-ACS) in Chinese., Methods: Non-ACS patients who had undergone elective coronary angiography (CAG) in Peking Union Medical College Hospital without previously known diabetes were enrolled consecutively from October 2013 to April 2014. Fasting plasma glucose (FPG), 2-hour plasma glucose after a 75 g oral glucose load (2hPG) and HbA1c levels before CAG were measured. Both WHO and new ADA criteria were applied for pre-diabetes and diabetes screening., Results: One hundred and thirty-nine patients were included, aged (61.9 ± 10.1) years and 88(63.3%) were men among them. According to WHO 1999 criteria, 34 patients (24.4%) were normal glucose regulation, 57 (41.0%) pre-diabetes (including one impaired fasting glucose and 56 impaired glucose tolerance), and 48 (34.5%) newly diagnosed diabetes mellitus. ADA criteria identified 12 more patients with pre-diabetes and eight more with diabetes than WHO criteria. Compared with those diagnosed by both criteria, the proportion of women was higher in diabetic patients diagnosed with HbA1c alone. They also had lower hemoglobin [(124.88 ± 17.74) g/L vs (140.15 ± 15.17) g/L, P=0.013] and higher fibrinogen levels [(3.47 ± 0.41) g/L vs (3.02 ± 0.68) g/L, P=0.024] than those diagnosed by both criteria., Conclusion: Compared with WHO 1999, new ADA criteria with HbA1c assessment are able to identify more previously unknown pre-diabetes and diabetes patients. Measurement of HbA1c might be needed to carry out routinely for screening patients with glucose metabolism abnormalities before elective CAG.
- Published
- 2015
37. [Incidence and associated risk factors of arterial stiffness in patients with systemic lupus erythematosus].
- Author
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Ding F, Ye Y, Li M, Wang Q, Xu D, Zeng X, and Zhang S
- Subjects
- Ankle, Ankle Brachial Index, Asian People, Blood Flow Velocity, Cardiovascular Diseases, Humans, Incidence, Prevalence, Pulsatile Flow, Pulse Wave Analysis, Risk Factors, Lupus Erythematosus, Systemic complications, Vascular Stiffness
- Abstract
Objective: To observe the prevalence and related risk factors of arterial stiffness measured by brachial-ankle pulse wave velocity (baPWV) in patients with systemic lupus erythematosus (SLE)., Methods: The study population included 135 patients currently enrolled in the Chinese SLE Treatment and Research group registry (CSTAR). All traditional cardiovascular risk factors and SLE-related disease factors were collected on the day of the baPWV examination., Results: (1)Significant differences were observed in age (P < 0.000) , family history of cardiovascular disease (P = 0.003), mean blood pressure (P = 0.000) and hemoglobin A1c (P = 0.023) between SLE patients with normal and abnormal arterial stiffness. In addition, SLE patients with abnormal arterial stiffness had lower creatinine clearance rates [85.9 (65.5-108.8) ml/min vs. 106.4 (86.8-124.6) ml/min, P = 0.011], longer disease and hydroxychloroquine duration (P = 0.002 and P = 0.022, respectively), and higher proportion of intravenous cyclophosphamide use (OR = 3.04, 95%CI:1.230-7.514, P = 0.013) as compared to patients with normal arterial stiffness. (2)After adjustment of all confounding factors, age (OR = 4.56, 95%CI: 1.863-11.133, P = 0.001), mean blood pressure (OR = 1.12, 95%CI: 1.055-1.196, P = 0.000) , disease duration (OR = 1.12, 95%CI: 1.050-1.367, P = 0.007) and the proportion of intravenous cyclophosphamide use (OR = 2.86, 95%CI: 1.364-5.979, P = 0.005) remained as independent risk factors for abnormal arterial stiffness in SLE patients., Conclusion: Both traditional cardiovascular risk factors and SLE-related factors are associated with the risk of increased arterial stiffness.
- Published
- 2015
38. [Risk factors prevalence for coronary heart disease in human immunodeficiency virus infected individuals].
- Author
-
Lan L and Zhang S
- Subjects
- Coronary Artery Disease complications, Humans, Prevalence, Risk Factors, Coronary Artery Disease epidemiology, HIV Infections complications
- Published
- 2014
39. [Analysis of traditional cardiovascular risk factors in patients with systemic lupus erythematosus].
- Author
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Liu L, Zhang T, Ye Y, Zhang S, and Chen L
- Subjects
- Adult, Cardiovascular Diseases epidemiology, Case-Control Studies, Cholesterol, Cholesterol, HDL, Cholesterol, LDL, Dyslipidemias, Female, Humans, Hypertension, Male, Prevalence, Regression Analysis, Risk Factors, Triglycerides, Cardiovascular Diseases complications, Lupus Erythematosus, Systemic complications
- Abstract
Objective: To evaluation the prevalence of hypertension, diabetes, dyslipidemia in systemic lupus erythematosus (SLE) patients, and investigate the factors that affecting lipid levels in SLE patients., Methods: A total of 540 adult SLE patients hospitalized in Peking Union Medical College Hospital from March 2010 to March 2013 were retrospectively included (SLE group), and 1 080 gender and age matched (1: 2) healthy controls were selected from our medical examination center (control group). The prevalence rate of hypertension, diabetes, dyslipidemia and the levels of serum lipid were compared between the two groups, the factors affecting lipid levels in SLE patients were also analyzed., Results: The percentage of hypertension, diabetes, dyslipidemia, elevated total cholesterol (TC), elevated triglyceride (TG), decreased high density lipoprotein cholesterol (HDL-C) and elevated low density lipoprotein cholesterol (LDL-C) in SLE patients were significantly higher than those in healthy controls (all P < 0.01) . Compared with the control group, SLE patients had significantly higher TC, TG, LDL-C levels and significantly lower HDL-C levels (all P < 0.01) . Multifactor regression analysis showed that TC and LDL-C levels were positively correlated with lupus nephritis (β = 0.695,0.437), corticosteroids therapy (β = 1.195, 0.715), complement C4 levels (β = 4.817, 3.382) and 24 hours urine protein content (β = 0.112, 0.078) (all P < 0.01) , but negatively correlated with serum albumin (Alb) (β = -0.107, -0.077) and high sensitive C reactive protein (hsCRP) levels (β = -0.021, -0.014) (all P < 0.01). TG levels were positively correlated with lupus nephritis (β = 0.359) and 24 hours urine protein content (β = 0.045) (both P < 0.05), negatively correlated with male gender (β = -0.605), age (β = -0.014) and Alb levels (β = -0.053) (P < 0.01 or 0.05). HDL-C levels were positively correlated with age (β = 0.007), lupus nephritis (β = 0.188), corticosteroids therapy (β = 0.342), consecutive 30 days cumulative corticosteroids dose before serum lipid were measured (β<0.001), and complement C3 levels(β = 0.351) (all P < 0.01) , negatively correlated with hsCRP levels (β = -0.005, P < 0.01). Serum lipid levels did not correlate with disease duration, disease activity, corticosteroids therapy time, corticosteroids daily dose before serum lipid measurement, serum creatinine levels and erythrocyte sedimentation rate (ESR) (all P > 0.05)., Conclusion: The prevalence rate of hypertension, diabetes and dyslipidemia in SLE hospitalized patients are significantly higher compared to normal controls and lipid levels of SLE patients are related to various SLE disease factors.
- Published
- 2014
40. [The impact of early surgery on long-term outcome of patients with left-sided infective endocarditis].
- Author
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Wang H, Zhang S, Tian Z, and Guo L
- Subjects
- Heart Failure, Humans, Retrospective Studies, Risk Factors, Time Factors, Treatment Outcome, Endocarditis surgery
- Abstract
Objective: This study aims to evaluate the impact of early surgery on long-term outcome of patients with left-sided native valve infective endocarditis (IE)., Methods: Clinical data were retrospectively reviewed in 239 consecutive patients with left-sided native valve IE from 2002 to 2012 in Peking Union Medical College Hospital (PUMCH). Propensity score was used to match patients in the early operation and conventional treatment groups., Results: Early surgery was performed in 70 (29.3%) patients and the conventional treatment strategy was applied in 169 (70.7%) patients. The median follow-up period was 2 years. IE-related mortality was lower in the early operation group than in the conventional treatment group (10.0% vs 23.1%, P = 0.02). For 58 propensity score-matched pairs, the cumulative survival free from IE related death was significantly higher in the early operation group than in the conventional treatment group (P = 0.027). Regression analysis of the matched cohorts revealed that early surgery was independently associated with decreased IE-related mortality (HR 0.286; 95%CI 0.092-0.893; P = 0.031). While either cardiac function with NYHA Class III-IV (HR 4.044; 95%CI 1.318-12.407; P = 0.015) or uncontrolled infection (HR 52.064; 95%CI 10.996-247.194; P < 0.001) was associated with poor prognosis of increased mortality., Conclusions: Early surgery improved long-term outcome in patients with left-sided native valve IE compared with conventional therapy. Risk factors related to increased mortality included heart failure and uncontrollable infection.
- Published
- 2014
41. [Clinical features of patients with premature acute coronary syndrome].
- Author
-
Zhang T, Tian R, Zhang S, Wu W, Liu Z, Fang Q, Xie H, Shen Z, and Zeng Y
- Subjects
- Adult, Aged, Female, Humans, Male, Middle Aged, Prognosis, Retrospective Studies, Risk Factors, Acute Coronary Syndrome
- Abstract
Objective: To analyze the clinical features of patients with premature acute coronary syndrome(ACS)., Methods: Three hundreds and forty seven patients with ACS who underwent coronary angiography from January 2011 to June 2013 in our department were included in this study. Eligible patients were divided into premature group (pre-group, male < 55 years old, female < 65 years old, n = 140) and non-premature group(N-pre group, male ≥ 55 years old, female ≥ 65 years old, n = 207). The cardiovascular risk factors, coronary angiography (CAG) features, complications and in-hospital mortality were analyzed., Results: Compared to N-pre group, the pre-group had a significantly higher rate of smoking [56.4% (79/140) vs. 44.4% (92/207), P < 0.05], dyslipidemia [61.4% (86/140) vs. 50.2% (104/207), P < 0.05] and positive family history of coronary artery disease [39.3% (55/140) vs. 24.6% (51/207), P < 0.01]. However, other traditional cardiovascular risk factors were less (3.03 ± 1.28 vs. 3.91 ± 1.30, P < 0.01). CAG identified higher incidence of one-vessel and double-vessel diseases (63.6%, 89/140) in pre-group, but the incidence of multi-vessel diseases (57.0%, 118/207) was more frequent in N-pre group . Moreover, the pre-group had a higher rate of coronary artery occlusion [45.7% (64/140) vs. 34.8% (72/207), P < 0.05]. Compared with N-pre group, the pre-group had a lower Gensini Score of CAG (46.2 ± 33.2 vs. 60.4 ± 37.5, P < 0.01) and a lower rate of heart failure[4.3% (6/140) vs. 11.1% (23/207), P < 0.05] during hospitalization. In-hospital mortality rate was similar between the two groups [0 vs. 1.9% (4/207), P > 0.05]., Conclusion: Smoking, dyslipidemia and family history of coronary artery disease are major risk factors for patients with premature ACS, these patients are more likely to have milder coronary artery stenosis and a lower incidence of heart failure compared to N-pre group.
- Published
- 2014
42. [Consensus standpoints from expert panel of Chinese Society of Cardiology on AHA/ACC 2013 guideline on the treatment of blood cholesterol to reduce atherosclerotic cardiovascular risk in adults].
- Author
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Yan X, Chen H, Gao W, Li J, Yang X, Ye P, Zhang S, Zhao D, Zhu J, and Huo Y
- Subjects
- Atherosclerosis blood, Cardiovascular Diseases blood, Cardiovascular Diseases drug therapy, Cholesterol blood, Humans, Practice Guidelines as Topic, Atherosclerosis prevention & control, Cardiovascular Diseases prevention & control, Hypercholesterolemia drug therapy
- Published
- 2014
43. [Detection of pathogenic mutations in Marfan syndrome by targeted next-generation semiconductor sequencing].
- Author
-
Lu C, Wu W, Xiao J, Meng Y, Zhang S, and Zhang X
- Subjects
- Base Sequence, Computational Biology, Fibrillin-1, Fibrillins, Genomics, Humans, High-Throughput Nucleotide Sequencing methods, Marfan Syndrome diagnosis, Marfan Syndrome genetics, Microfilament Proteins genetics, Mutation, Semiconductors
- Abstract
Objective: To detect pathogenic mutations in Marfan syndrome (MFS) using an Ion Torrent Personal Genome Machine (PGM) and to validate the result of targeted next-generation semiconductor sequencing for the diagnosis of genetic disorders., Methods: Peripheral blood samples were collected from three MFS patients and a normal control with informed consent. Genomic DNA was isolated by standard method and then subjected to targeted sequencing using an Ion Ampliseq(TM) Inherited Disease Panel. Three multiplex PCR reactions were carried out to amplify the coding exons of 328 genes including FBN1, TGFBR1 and TGFBR2. DNA fragments from different samples were ligated with barcoded sequencing adaptors. Template preparation and emulsion PCR, and Ion Sphere Particles enrichment were carried out using an Ion One Touch system. The ion sphere particles were sequenced on a 318 chip using the PGM platform. Data from the PGM runs were processed using an Ion Torrent Suite 3.2 software to generate sequence reads. After sequence alignment and extraction of SNPs and indels, all the variants were filtered against dbSNP137. DNA sequences were visualized with an Integrated Genomics Viewer. The most likely disease-causing variants were analyzed by Sanger sequencing., Results: The PGM sequencing has yielded an output of 855.80 Mb, with a > 100 × median sequencing depth and a coverage of > 98% for the targeted regions in all the four samples. After data analysis and database filtering, one known missense mutation (p.E1811K) and two novel premature termination mutations (p.E2264X and p.L871FfsX23) in the FBN1 gene were identified in the three MFS patients. All mutations were verified by conventional Sanger sequencing., Conclusion: Pathogenic FBN1 mutations have been identified in all patients with MFS, indicating that the targeted next-generation sequencing on the PGM sequencers can be applied for accurate and high-throughput testing of genetic disorders.
- Published
- 2013
- Full Text
- View/download PDF
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