神经内分泌肿瘤是一种不被大众熟知的罕见疾病，苹果公司创始人乔布斯正是被这种罕见病夺走了生 命。该病起病隐匿，且全身多个器官都可能患此疾病，引发的症状也"千人千面"，因此误诊率较高。11 月10日是国际神经内分泌肿瘤日，为了提升公众及医务人员对该疾病的认识，北京大学第三医院普通外 科主任医师原春辉教授以科普形式详解神经内分泌肿瘤，并提醒，长期反复出现低血糖发作、晕厥、腹 泻、难治性消化道溃疡、游走性皮疹等症状的患者，需警惕神经内分泌肿瘤。有家族史的患者应及早筛 查并定期随访。 原春辉介绍，神经内分泌肿瘤分为"功能性"和"无功能性"两类。功能性神经内分泌肿瘤会引发器官分泌 过多激素而出现症状。如胰岛素瘤会导致胰腺分泌过多胰岛素，从而引发低血糖。有些患者长期存在反 复晕厥发作，或有发怒、言语不利等精神和神经系统症状。而这类肿瘤发病早期往往病灶很小，普通体 检难以发现，因此一些患者长期受上述病症的困扰。 原春辉提醒，若空腹经常出现大汗、心慌等低血糖症状，或早晨出现晕厥、言语不利等症状，皮肤上出 现游走性皮炎，或消化道出现难治性消化性溃疡、长期腹泻、电解质失衡，视网膜出现肿瘤性病变等， 要考虑神经内分泌肿瘤。 发病隐匿 ...

Core Viewpoint - Rare diseases are a global public health issue and should be prioritized in health investment strategies to address the challenges they pose [1][2]. Group 1: Importance of Rare Diseases - The rare disease population is among the most vulnerable and requires prioritization to avoid falling behind in healthcare [2]. - There is a global consensus that rare diseases are not only medical challenges but also involve social, economic, and human rights issues [2]. Group 2: Current Status in China - China has defined 207 rare diseases in its catalog, but this is limited compared to over 10,000 rare diseases globally, indicating a significant lag [2]. - Legislative measures are urgently needed to systematically advance the prevention and treatment of rare diseases in China [2]. Group 3: Innovation and Development - Comprehensive support for the development of the rare disease industry is essential, including promoting innovative technologies and enhancing international competitiveness [3]. - China has shown significant strength in innovative drug development for rare diseases, moving from a follower to a key player in the field [4][6]. Group 4: Future Prospects - The treatment of rare diseases is shifting from symptomatic treatment to addressing root causes, with gene therapy and editing technologies providing new possibilities [5]. - China is expected to continue narrowing the gap with Western countries and may achieve breakthroughs in more areas of rare disease treatment [6]. Group 5: Collaborative Efforts - The China Rare Disease Summit serves as a major academic event, facilitating discussions among experts from various fields to promote the development of rare disease initiatives in China [6].

Core Insights - The 2025 China Rare Disease Conference was held in Beijing from September 20 to 21, highlighting the growing focus on rare diseases in the country [1] - Currently, there are 419 hospitals in the national rare disease diagnosis and treatment collaboration network, with the list of rare diseases expanded to 207 types [1] - Approximately 100 rare disease medications have been included in the national medical insurance drug list, indicating increased accessibility for patients [1] - In 2024, the medical insurance fund will allocate 8.6 billion yuan for rare disease medications, accounting for 7.7% of the total payment for drugs during the agreement period [1]

Focus Area - The talk focuses on the rare disease field, highlighting the significant impact on affected families [1] - The speaker, Dr Zhi Xu, specializes in reproductive genetics consultation and prevention of rare diseases and birth defects [1] Speaker's Expertise - Dr Zhi Xu is a researcher (Senior Professional Title) at the Reproductive Medicine Center of Peking University Third Hospital [1] - Dr Zhi Xu holds multiple social positions, including Deputy Director of the Fetal Heart Disease Prevention and Treatment Committee of the Chinese Maternal and Child Health Association [1] Social Impact - The talk aims to shed light on the often-overlooked rare disease community [1] - The talk emphasizes the importance of hope in the face of rare diseases [1]

Group 1 - The first public art exhibition on tenosynovial giant cell tumor (TGCT) was held in Beijing, showcasing over a hundred artworks created by patients, families, healthcare workers, and artists to raise awareness about this rare disease [1][2] - TGCT, also known as pigmented villonodular synovitis (PVNS), is a benign but locally aggressive tumor that primarily affects individuals aged 20 to 50, with a low incidence rate of 1 in 20,000 [1] - The disease can lead to significant limitations in daily activities, work, and social life due to symptoms such as joint swelling, pain, stiffness, and restricted movement [1] Group 2 - There is a significant gap in societal awareness regarding TGCT, and efforts are being made to use art to illustrate the struggles and pain of patients, emphasizing that this rare tumor is closer to the public than they might think [2] - The treatment and management of rare diseases like TGCT require collaboration among government, medical institutions, enterprises, charitable organizations, and society as a whole [2] - The event aims to expand social participation in the awareness and understanding of rare diseases through innovative contributions from the medical field and community engagement [2]

Core Viewpoint - The article highlights the challenges faced by myasthenia gravis patients in China, emphasizing the need for improved diagnosis, treatment accessibility, and social support systems for this rare disease [1][2][10]. Group 1: Disease Overview - Myasthenia gravis is an autoimmune neuromuscular disorder that affects nerve-muscle transmission, with approximately 650,000 patients in China [1][5]. - The annual incidence rate of myasthenia gravis in China is about 0.68 per 100,000, meaning one person is diagnosed every 14.7 years among 100,000 people [5]. - Misdiagnosis is a significant issue, with a reported misdiagnosis rate of 58.3% among surveyed patients [3][5]. Group 2: Patient Challenges - Patients face numerous challenges, including high treatment costs, lack of insurance coverage for essential medications, and social discrimination [10][11]. - Approximately 40.9% of surveyed patients reported having no income, and 46.3% earn less than 5,000 yuan per month, making it difficult to afford long-term treatment [10]. - 70% of patients are unable to work full-time due to their condition, and 29.8% experienced a relapse in the past six months [6][10]. Group 3: Treatment and Management - Advances in treatment have led to a shift from immunosuppressive therapies to "immune resetting," with potential for clinical remission [7]. - New drug developments, such as CAR-T cell therapy, show promise in improving treatment outcomes [7]. - The article emphasizes the importance of timely and appropriate treatment to achieve clinical improvement [7]. Group 4: Social Support and Advocacy - The establishment of patient organizations, such as the Beijing Aili Myasthenia Gravis Rare Disease Care Center, plays a crucial role in providing support and advocacy for patients [15]. - The article calls for a redefinition of myasthenia gravis to enhance public understanding and reduce stigma [15]. - Continued efforts are needed to improve social support systems and reduce the economic burden on patients and their families [14].

Core Viewpoint - The story highlights the resilience and optimism of a student named Lele, who, despite suffering from a rare disease, remains determined to support her classmates during their high school entrance examination and continues to pursue her own dreams through art [5][9]. Group 1: Lele's Condition and Education Journey - Lele was diagnosed with mucopolysaccharidosis, a rare disease affecting her physical development, but she has maintained good academic performance [6][7]. - Her family was initially apprehensive about her schooling, but the school welcomed her and provided necessary accommodations, such as an elevator and a private restroom [7][8]. - Lele's teachers and classmates have shown significant support, with her teacher creating a tailored study plan for her [8]. Group 2: Lele's Aspirations and Support from Peers - Despite her health challenges, Lele expressed a strong desire to take the entrance exam and even prepared a letter of encouragement for her classmates [9]. - Her classmates have learned to appreciate their current circumstances through Lele's determination, with a reserved seat in the classroom for her [8]. - Lele has taken up self-learning in digital art, indicating her ongoing pursuit of personal dreams [9].

Group 1 - The article highlights the unique perspective of a blind comedian named Black Lamp, who uses humor to address his condition and engage with audiences in a way that challenges societal norms around disability [1][3][6] - Black Lamp's performances often include self-deprecating humor and dark jokes, which serve as a form of desensitization to the stigma surrounding disabilities [3][4][6] - His comedy has sparked awareness about accessibility issues in urban environments, prompting audiences to notice and report inadequate facilities for the visually impaired [6][63] Group 2 - Black Lamp was diagnosed with a rare condition called juvenile macular degeneration at the age of 13, which leads to significant vision loss and ultimately blindness, affecting 1 in every 12,000 people globally [7][8] - He has faced challenges in the job market due to his visual impairment, often having to change jobs frequently and feeling disconnected from societal expectations [10][23][26] - The comedian's journey into stand-up was initially motivated by a desire to connect with others who share his condition and raise awareness about it [34][36] Group 3 - Black Lamp's performances have led to the creation of a support community for individuals with juvenile macular degeneration, where they can share information and experiences [35][38] - His comedic style has evolved over time, allowing him to engage audiences more effectively and address sensitive topics related to disability [51][54] - The article discusses the importance of humor in coping with life's challenges, particularly for those with disabilities, and how Black Lamp's work exemplifies this [72]