浙江省2007－2017年罕见病住院病例特征分析

目的 分析2007-2017年浙江省24 388例罕见病住院病例特征，为制定罕见病防控策略提供依据。方法 收集2007-2017年浙江省10家三级甲等（三甲）医院罕见病住院病例资料和各年度住院数，进行描述性统计分析。结果 罕见病病例共24 388例，占住院总例数的2.69‰（24 388/9 054 201），病例数居前3位的疾病类型依次为"血液和造血器官疾病以及某些涉及免疫机能的异常"（占32.81%，8 001/24 388）、"先天性畸形、变形和染色体异常"（占24.87%，6 065/24 388）和"神经系统疾病"（占19.01%，4 635/24 388）；2007-2017年罕见病病例数呈逐年增长趋势，年均增幅19.69%，而罕见病例数占同期住院总例数比例仅在2016-2017年明显上升，各类型罕见病时间分布呈不同特征；罕见病的病例数男女性别比为1.35：1（13 990/10 398），男女性别比最高的3类疾病依次为"消化系统疾病"（4.45：1，1 180/265）、"损伤、中毒和外因的某些其他后果"（3.51：1，281/80）和"神经系统疾病"（2.26：1，3 213/1 422）；各年龄段罕见病类型、各类型罕见病年龄分布均呈不同特征；病例数居前10位的疾病占全部罕见病例数的53.55%（13 060/24 388），其中前3位疾病分别为成人粒细胞缺乏症（14.41%，3 515/24 388）、皮质基底核退化症（7.60%，1 854/24 388）和亨诺克-舍恩莱因紫癜（6.01%，1 466/24 388）。结论 本研究分析的浙江省2007-2017年24 388例罕见病住院病例的特征资料，是推动我国罕见病的研究、监测或登记数据库构建、制定防控策略的参考依据。     

中药濒危药用动植物资源保护与可持续利用

分析了濒危药用动植物资源的现状及造成生物物种灭绝的原因,列举了国际、国内颁布的濒危物种保护公约与名录,以及我国对药用动植物的保护条例,探讨了中药资源保护和管理的意义与对策。     

大型三甲医院分院神经内科住院患者疾病构成特点

【摘要】 目的 分析大型三甲医院分院神经内科住院患者的疾病构成及相关特点,为临床诊治工作提供科学客观依据。方法 收集四川大学华西医院上锦分院?成都上锦南府医院神经内科2012年4月1日~2018年3月31日住院患者的病历资料,共收治17104例患者,其中男性8667例（5067%）,女性8437例（4933%）,年龄4～100岁,平均（5237±1775）岁,以首页的主要诊断即第一诊断按照WHO 国际统一疾病分类法（ICD 10）并结合神经内科“Midnights”定性原则作为疾病分类标准,采用 SPSS 220软件进行数据统计、分析。结果 脑血管疾病、中枢神经系统感染性疾病、头晕和眩晕、神经系统疾病相关的精神障碍、周围神经疾病所占比例依次为2045%、1176%、846%、743%、740%。2012年～2018年神经内科罕见病所占比例依次为505%、833%、966%、1028%、1079%、1126%、1144%。结论 大型三甲医院分院神经内科位列前五的病种为脑血管疾病、中枢神经系统感染性疾病、头晕和眩晕、神经系统疾病相关的精神障碍、周围神经疾病,罕见病所占比例呈逐年升高趋势,各级医院神经内科应加强卒中中心的发展及对罕见病的认识,推进双向转诊及分级诊疗,以使患者能最大获益。     

Methodology of clinical trials for rare diseases

Evidence from clinical trials, ideally using randomisation and allocation concealment, is essential for informing clinical decisions regarding the benefits and harms of treatments for patients. Where diseases are rare, such as in paediatric rheumatic diseases, patient recruitment into clinical trials can be a major obstacle, leading to an absence of evidence and patients receiving treatments based on anecdotal evidence. There are numerous trial designs and modifications that can be made to improve efficiency and maximise what little data may be available in a rare disease clinical trial. These are discussed and illustrated with examples from paediatric rheumatology. Regulatory incentives and support from research networks have helped to deliver these trials, but more can be done to continue this important research.     

How to conduct research of rare autoimmune diseases

Rare autoimmune diseases are difficult to conduct researches in spite of present era with advanced scientific progress. Research using genetic approach is a promising way since genetic findings implicate causality of diseases. Still, there are multiple obstacles preventing genetic studies of rare diseases. Here, we list up the problems and propose solutions for them with detailed examples. The biggest problem is that it is difficult to collect a substantial number of DNA samples from patients with rare diseases. We propose to collaborate not only with academic institutions and hospitals but with patients’ groups. Detailed examples include studies about Takayasu arteritis (TAK), relapsing polychondritis, and systemic sclerosis. In TAK, we identified IL12B, a key gene which seems to play a central role in the disease. After getting evidence of IL12p40 encoded by IL12B as a possible therapeutic target by showing similarities of the genetic background between TAK and ulcerative colitis, we performed a pilot clinical study of ustekinumab, a monoclonal antibody against IL12p40 for patients with refractory TAK and obtained good response. This is a good example of how genetic findings in a rare disease lead to development of new therapeutic option.     

The POWER-tool: Recommendations for involving patient representatives in choosing relevant outcome measures during rare disease clinical trial design

In clinical trials, it is relevant to ask patients and/or their caregivers which aspects concerning their disease they consider important to measure when a new intervention is being investigated. Those aspects, useful as outcome measures in a trial, are of pivotal importance for the result of the trial and the subsequent decision-making. In rare diseases the choice of outcome measures may be even more important, due to the small numbers and heterogeneity of the patients that are included.We have developed a tool to involve patients in the determination of outcome measures and the choice of measurement instruments. This tool was developed together with a patient think tank, consisting of a group of rare disease patient representatives, and by interviewing end users. We have road-tested our tool in an ongoing trial, and evaluated it during a focus group meeting.The tool consists of three steps: 1) Preparation, 2) Consultation of patients, 3) Follow-up during which the consultation results are implemented in the trial design.The tool provides guidelines for researchers to include the patient’s opinion in the choice of outcome measures in the trial design stage. We describe the development of the POWER-tool (Patient participation in Outcome measure WEighing for Rare diseases), and first experiences of the tool in an ongoing trial.