Category
The Development and Future Prospects of the Department of Rare Diseases as an Emerging Discipline
SHEN Min, ZHANG Shuyang
2026, 5(1): 1-6. DOI: 10.12376/j.issn.2097-0501.2026.01.001
Abstract PDF
Phased Exploration and Reflections on the High-Quality Development of Rare Disease Centers: Based on the Practice of a Regional Women and Children's Medical Center
LI Shu, LIU Li, ZHOU Wenhao
2026, 5(1): 7-12. DOI: 10.12376/j.issn.2097-0501.2026.01.002
Abstract PDF
Platform-Integrated Synergy and Subspecialty Cluster-Driven Lifelong Management of Pediatric Rare Diseases
QIU Liru, LUO Xiaoping
2026, 5(1): 13-18. DOI: 10.12376/j.issn.2097-0501.2026.01.003
Abstract PDF
Multidimensional Challenges and Development Strategies in the Construction of Rare Disease Discipline
GONG Li, MA Xiaowan, CHENG Nansheng, HE Qian, WAN Zhi
2026, 5(1): 19-26. DOI: 10.12376/j.issn.2097-0501.2026.01.004
Abstract PDF
Efficacy Analysis of Imatinib Neoadjuvant Therapy in Patients Undergoing Surgery for Rectal Gastrointestinal Stromal Tumors
DAI Jiayuan, XU Jin, SHEN Min, XIAO Yi, LIN Guole, LU Junyang
2026, 5(1): 27-33. DOI: 10.12376/j.issn.2097-0501.2026.01.005
Abstract PDF
Clinical Characteristics and Prognostic Analysis of Extracranial Malignant Rhabdoid Tumor in Children
ZHANG Shihan, ZHAO Wen, JIN Mei, FAN Hongjun, WANG Xisi, FU Libing, YU Tong, SU Yan
2026, 5(1): 34-42. DOI: 10.12376/j.issn.2097-0501.2026.01.006
Abstract PDF
A Case of Multidisciplinary Treatment for Inflammatory Myofibroblastic Tumor Complicated by ANCA-Associated Vasculitis
WANG Shaoying, PENG Linyi, ZHENG Ke, WANG Zhiwei, ZHAO Dachun, ZHANG Xia, ZHAO Lin, WANG Wenhui, WANG Weiqing, ZHU Zhenzhen, XU Jin, SHEN Min
2026, 5(1): 43-51. DOI: 10.12376/j.issn.2097-0501.2026.01.007
Abstract PDF
A Case of Multidisciplinary Treatment for a Patient with Gorham-Stout Disease
HU Jing, JIN Ying, ZHANG Yan, LI Ji, WANG Wenhui, CHI Yue, LI Chunxu, ZHANG Zhenjie, LIU Yaping, CHU Xiaotian, XU Jin, SHEN Min
2026, 5(1): 52-59. DOI: 10.12376/j.issn.2097-0501.2026.01.008
Abstract PDF
A Case of Tuberous Sclerosis Complex with Multiple Organ Involvement Caused by TSC2 Gene Mutation
ZHANG Hongli, DAI Jiayuan, WANG Yan, ZHANG Weihong, MA Wenbin, FU Hanhui, HE Chunxia, ZHENG Jun, WANG Wenda, ZUO Wei, LIU Yaping, SHEN Min
2026, 5(1): 60-67. DOI: 10.12376/j.issn.2097-0501.2026.01.009
Abstract PDF
Perioperative Management of Duchenne Muscular Dystrophy and Accompanying Spinal Deformity: a Case Report
ZHAN Jing, CHEN Weiyun, SHEN Jianxiong
2026, 5(1): 68-72. DOI: 10.12376/j.issn.2097-0501.2026.01.010
Abstract PDF
LUBAC-OTULIN Axis and Rare Autoinflammatory Diseases
ZHOU Xuan, SHEN Min
2026, 5(1): 73-81. DOI: 10.12376/j.issn.2097-0501.2026.01.011
Abstract PDF
Research Progress in VEXAS Syndrome
JIN Xianghong, XU Jin, CHEN Miao, ZHUANG Junling, SHEN Min
2026, 5(1): 82-89. DOI: 10.12376/j.issn.2097-0501.2026.01.012
Abstract PDF
Current Status, Trends, and Opportunities in the Study of Computable Phenotypes for Rare Diseases
WU Jindong, WEN Qiaorui, GUO Jian, WANG Shengfeng
2026, 5(1): 90-99. DOI: 10.12376/j.issn.2097-0501.2026.01.013
Abstract PDF
Application and Challenges of Induced Pluripotent Stem Cell Technology in Research of Rare Neurodevelopmental Disorders
GE Yunchen, ZHENG Bixia, ZHANG Aihua
2026, 5(1): 100-111. DOI: 10.12376/j.issn.2097-0501.2026.01.014
Abstract PDF
Exploration of Training System for Visiting Physicians in Department of Rare Diseases
DAI Jiayuan, XIE Jing, CHAI Jingjing, MAO Yueying, LI Chunlei, LIU Yaping, XU Jin, SHEN Min, ZHANG Shuyang
2026, 5(1): 112-116. DOI: 10.12376/j.issn.2097-0501.2026.01.015
Abstract PDF