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Intravascular papillary endothelial hyperplasia (IPEH), also called masson tumor which is a benign vascular tumor named after Pierre Masson, the French pathologist who originally described it in 1923, terming it "hémangioendothéliome végétant intravasculaire." It is characterized by a reactive proliferation of endothelial cells associated with thrombosis. Ultrasound and MRI are the main imaging examinations, but the diagnosis of IPEH was confirmed by biopsy pathology and immunohistochemistry. It is generally accepted that surgical excision is the first choice of treatment. In this report, we report a case of Masson tumor arising in the right wrist.
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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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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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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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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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Objective To investigate the effect of Gexia Zhuyu decoction combined with diosmin on coagulation mechanism in patients with great saphenous varicose vein surgery.Methods A total of 60 patients who received great saphenous varicose vein surgery in Shaoxing Hospital of Traditional Chinese Medicine from January 2019 to April 2022 were selected and divided into control group and observation group according to random number table method,with 30 patients in each group.Control group was treated with diosmin,and observation group was treated with diosmin + Gexia Zhuyu decoction.Coagulation indexes,vascular endothelial function and inflammatory factor levels were compared between two groups.Results After treatment,Krüppel-like factor 2,activated partial thromboplastin time,thrombin time,prothrombin time,nitric oxide,and interleukin(IL)-10 in observation group were significantly higher than those in control group,while plasminogen activator inhibitor type 1,von Willebrand factor,endothelin 1,hypersensitive C-reactive protein,IL-2 and IL-6 were significantly lower than those in control group(P<0.05).Conclusion Gexia Zhuyu decoction combined with diosmin can improve the hypercoagulable state and vascular endothelial function in patients with great saphenous varicose vein surgery,and reduce the level of inflammatory factors in the body,which is worth popularizing.
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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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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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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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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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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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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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Objective:To explore the core competency of doctors in tertiary public hospitals in regions of different income levels in China, and provide reference for promoting such competency and related policy formulation.Methods:Using multi-stage stratified cluster sampling method, 195 tertiary public hospitals in 16 provinces of China were selected from November 2021 to March 2022. 200 doctors were sampled from each hospital. A self-designed questionnaire was used to investigate the status of doctors′ core competencies, as well as the status of their postgraduate medical education and continuing medical education. According to the per capita gross regional product of each province in China Statistical Yearbook 2022, each province was divided into high, middle and low income regions, and the questionnaire data were descriptively analyzed, while χ2 test was used to compare the differences between groups. Results:A total of 32 673 valid questionnaires were collected. There were 12 135 doctors (37.14%) in China who had received comprehensive education and training of core competency in all dimensions. Among the dimensions of self-rated core competency of the surveyed doctors, there were 10 019 doctors (30.66%) with insufficient teaching ability and 438 (1.34%) with insufficient professional quality, and there was no significant difference between regions ( P>0.05). There were 2 385 (27.08%), 2 528 (27.55%) and 3 646 (24.82%) doctors in high-, middle- and low-income regions with insufficient lifelong learning ability, respectively. The proportion of doctors in middle- and high-income regions was higher than that in low-income ones ( P<0.05). There were 1 317 (15.57%), 1 290 (14.06%) and 2 719 (18.51%) doctors with insufficient knowledge and skills in high-, middle- and low-income areas, respectively. The proportion of doctors in low-income regions was higher than that in middle- and high-income regions ( P<0.05). The proportion of doctors who did not receive any kind of postgraduate medical education or continuing medical education in low-income regions was 7.33% (1 077 people), higher than that in high-income and middle- income ones ( P<0.05); 50.44% (4 442 people) of surveyed doctors in high-income regions believed that for standardized training of resident physicians (hereinafter referred to as residential training), the clinical teachers were " overworked to take this job", which was higher than that in middle- and low-income regions ( P<0.001); In middle-income regions, 46.16% (4 235 people) and 43.46% (3 987 people) believed that the salary residents and specialized physicians in standardized training (hereinafter referred to as specialized training) was too low, while 42.47% (3 897 people) and 30.44% (2 793 people) believed that the clinical practice opportunities of students were limited, both of which were higher than those in high-income and low-income regions ( P<0.001); 34.91% (5 128 people) of surveyed doctors in low-income regions believed that the investment was insufficient for training bases of residential training, 27.81% (4 085 people) of those held that training bases for specialized training were unevenly distributed, and 33.19% (4 876 people) of those held that continuing medical education was plagued by " insufficient promotion coverage, and insufficient opportunities for primary doctors", all of which being higher than those in high- and middle-income regions ( P<0.001). Conclusions:There is an obvious need to improve the core competence of doctors in the teaching ability dimension of tertiary public hospitals in China, especially in middle- and high-income regions for lifelong learning, and in low-income regions for knowledge and skills; There are differences between postgraduate medical education and continuing medical education systems in regions of different income levels in China. It is necessary to improve the competency oriented postgraduate medical education and continuing medical education systems.
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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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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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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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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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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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The competency-based medical education has formed a global trend, and puts forward a greater challenge for educational design of resident training. The traditional curriculum cannot meet the goal of competency-based education as the curriculum design is lack of theoretical support. Curriculum design is the core of training content, and serves as a significant contributing factor of training outcome. Based on the six-step approach curriculum design, the theory and practice are integrated to form a curriculum design based on theoretical guidance. Through feedback evaluation, the current curriculum design is continuously improved in order to achieve a higher competency-based training quality. With the 5-year experiences and practice, preliminary reform demonstrates effectiveness. The current study hopes to share the teaching reform experiences of residency training base and provide references for colleagues of medical education.
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Objective:To investigate the application of different imaging methods of 99Tc m-pyrophosphate (PYP) in the diagnosis and pathological classification of cardiac amyloidosis (CA). Methods:A total of 31 patients (22 males, 9 females, age 21-81(57.2±13.4) years) with suspected CA who underwent 99Tc m-PYP dual-phase scintigraphy (early-phase: 1 h, delay-phase: 2-3 h) and SPECT/CT (1 h) between December 2018 and December 2019 in Peking Union Medical College Hospital were retrospectively included. Taking clinical diagnosis as the standard, the results of visual score (≥2, positive) and semi-quantitative values (heart to contralateral lung (H/CL)≥1.5, positive) of 99Tc m-PYP uptake in dual-phase scintigraphy and SPECT/CT imaging were analyzed. One-way analysis of variance and Bonferroni test were used to analyze the data. Results:Among 31 patients with suspected CA, 15 were clinically diagnosed as CA (5 patients with transthyretin-related CA (ATTR-CA) and 10 patients with light chain CA (AL-CA)) and 16 were diagnosed as non-CA. All 5 patients with ATTR-CA had positive dual-phase scintigraphy and SPECT/CT imaging results. Three out of 10 patients with AL-CA had positive early-phase scintigraphy whereas negative delay-phase scintigraphy and SPECT/CT imaging results. Sixteen patients who were clinically diagnosed as non-CA had negative dual-phase scintigraphy and SPECT/CT imaging results. The sensitivity (5/5), specificity (10/10), positive predictive value (5/5), negative predictive value (10/10) and accuracy (15/15) of delay-phase scintigraphy and SPECT/CT imaging were the same. Among 31 patients, 16 patients carried transthyretin-related (TTR) gene mutation, and 4 of them who clinically diagnosed as variant ATTR (ATTRv) had positive image findings while 12 of them who not clinically diagnosed as CA had negative image findings. There were significant differences in H/CL between ATTR-CA group and AL-CA group in early-phase (2.11±0.24 vs 1.31±0.07) and delay-phase (2.02±0.19 vs 1.30±0.05; F values: 75.41 and 87.15, Bonferroni test, both P<0.01). Conclusions:99Tc m-PYP delay-phase scintigraphy and SPECT/CT have high diagnostic efficiencies in ATTR-CA, helping to determine the pathological classification of CA; while early-phase scintigraphy has false positive results. Moreover, 99Tc m-PYP imaging is helpful to detect CA in patients with TTR gene mutation.