Search

Resident training is a necessary path to cultivate excellent clinical doctors. Based on the Consensus on Core Competency Framework for Residency Education Among China Consortium of Elite Teaching Hospitals for Residency Education, Department of Neurology from Peking Union Medical College Hospital has established a training program for neurology residents with a graded evaluation system and a progressive clinical responsibility concept guided by core competency. Overcoming the teaching difficulties of neurology and considering the clinical characteristics of neurology, we have established a series of replicable and promotable neurology residency training curriculum through inheritance and innovation, which provides reference for the continuous improvement of China's neurology residency training program.

目的 在神经科住院医师中开展困难谈话技能培训课程，探究困难谈话技能培训的可行性，并初步探索本课程的效果。 方法 在北京协和医院神经科住院医师中开展2次困难谈话技能培训课程，每月1次，每次2 h。课程主题均为与神经科临床实践相关的具体临床情景，包括：①告知坏消息；②与“困难”患者或家属沟通；③讨论不施行心肺复苏等抢救措施；④与家属讨论重症患者的临终关怀。采用情景模拟教学方法，邀请标准化病人和住院医师在教师指导下完成案例情景模拟，并进行医患沟通伦理知识、技能策略的学习。采用匿名在线调查评估住院医师对本课程的满意度，课程前后采用困难谈话技能自我评估问卷分析住院医师11个维度技能的改善情况。课程结束1年后使用医患沟通技能评价量表（set the stage，elicit information，give information，understand the patient’s perspective，and end the encounter；SEGUE）对部分住院医师的沟通能力进行考核。 结果 共有14位住院医师参加了困难谈话技能培训课程，12位（85.7%）完成了相关调查评估问卷。完成问卷的住院医师中9位（75.0%）为女性，10位（83.3%）为低年级住院医师（第一年或第二年住院医师）。总体而言，住院医师对本课程反响积极，所有完成问卷的住院医师均对课程表示满意；参与的住院医师在困难谈话技能自我评估问卷涉及的绝大多数维度上均有不同程度改善；4位住院医师完成SEGUE评估，3位获得A级评分。 结论 在神经科住院医师中使用基于真实病例的特定临床情景模拟来开展困难谈话技能培训课程是可行的，住院医师对课程满意度高且课程对其有积极影响，住院医师的困难谈话技能在培训后得到一定提升。 Abstract: Objective A preliminary training course on difficult conversation skills was developed for neurology residents to explore the feasibility and effects of difficult conversation skills training. Methods Two difficult conversation skills training courses focusing on specific clinical scenarios of particular relevance to neurologic practice were conducted among the neurology residents in Peking Union Medical College Hospital, once a month for 2 hours each time. The topics were: giving bad news, communicating with “difficult” patients or family members, discussing not implementing cardiopulmonary resuscitation and other rescue measures, and discussing the hospice care of patients in severe or critical condition with their families. Standardized patients and residents were invited to complete simulation-based teaching and the learning of doctor-patient communication ethics knowledge, skill, and strategies under the guidance of teachers. An anonymous online survey was used to assess residents’ satisfaction with the course. The self-assessment questionnaire of difficult conversation skills was used to analyze the improvement of residents’ skills in 11 dimensions before and after the course. Set the stage, elicit information, give information, understand the patient’s perspective, and end the encounter (SEGUE) was used to assess the communication ability of partial residents after one year of the course. Results A total of 14 residents participated in the course, and 12 (85.7%) completed the questionnaire, of which 9 (75.0%) were female, and 10 (83.3%) were junior residents, including first- and second-year residents. Overall, the residents reacted positively to the training course and gained improvements in most aspects addressed in the questionnaire to different extents. All residents who completed the questionnaire were satisfied with the course, and 3 of the 4 residents who completed the SEGUE evaluation got a grade of A. Conclusions Difficult conversation skills training using specific clinical scenarios stimulation based on real neurologic cases was well accepted by neurology residents. The residents had a high degree of satisfaction with the course and the course had a positive influence on the participants. Their ability of difficult conversations has been improved to different degrees after the training.

Objective To identify the pathogenic variants in 110 patients with essential tremor (ET). Methods Clinical data and peripheral blood samples of ET patients were collected from the Department of Neurology of Peking Union Medical College Hospital and then the genomic DNA was extracted. Dynamic mutation detection of NOTCH2NLC was performed in patients with essential tremor by triplet repeat primed PCR(TP-PCR). Since ET is associated with multiple mechanisms of neuro-degeneration, the next generation sequencing (NGS) panel targeting neurodegenerative associating genes were performed to check pathogenic variants in additional genes. Results A total of 110 ET patients and 187 matched control individuals were recruited. The age of onset in the current ET group was (36.30±17.64)years, and 74.8% patients had a family history. No abnormal trinucleotide repeat expansion in NOTCH2NLC was identified. The repeat number of (GGC)n lied within normal ranges between 10-47 (average 18.6±5.4). Variants burden analysis showed association of ET with PLA2G6. Three rare variants in four patients in PLA2G6 were identified with unknown significance. Conclusions Dynamic mutations of NOTCH2NLC are uncommon in ET patients and that suggests need of more researches for further exploring the genetic mechanism of ET.

Gene therapy research on amyotrophic lateral sclerosis (ALS) focuses on SOD1, C9ORF72, FUS and ATAX2, et al. According to the mechanism, the pathogenicity of variant genes is mostly acquired by the toxicity gain of function. Two strategies are adopted for the silencing and editing of disease causing genes, namely, naked injection of antisense oligonucleotides (ASO) to induce the degradation of mRNA mediated by RNase H or the silencing of disease causing gene mediated by adeno-associated virus (AAV) to delivery RNA interference (RNAi) to decrease toxicity protein. CRISPR/Cas9 edits and modifies the causing gene to decrease the expression of toxic protein. In addition, there has been much progress in decreasing the level of toxic protein through specific antibodies and metabolic regulators, as well as neuroprotective therapy.