Nutrition Innovation Centre for Food and Health, School of Biomedical Sciences, Ulster University, Coleraine, Northern Ireland. Electronic address: h.mcnulty@ulster.ac.uk.
一项多中心回顾性观察研究纳入意大利、希腊和西班牙三级癫痫中心的62例足月新生儿，均符合ILAE 2022年发育性和癫痫性脑病（DEE）标准，惊厥于生后30天内起病，随访至少18个月，全部接受基于二代测序的基因检测，以明确遗传诊断率、临床与遗传特征及长期癫痫、神经发育和生存结局。结果发现，82.2%（51/62）的患者获得分子诊断，涉及29个基因；一线全外显子测序的诊断率高于靶向基因Panel（88.9% vs. 41.2%），但该比较受检测年代和策略差异影响。KCNQ2变异最常见（29.4%），并发现若干可治疗的代谢性疾病。平均随访11.9年，64.5%的患者为药物难治性癫痫，死亡率达17.7%；部分患者实现无发作，尤其是KCNQ2相关DEE患者，但71.7%的可评估患者存在重度至极重度智力障碍，且持续至无发作患者中，提示神经发育结局受潜在遗传疾病等因素影响，但数据变异显著，无法进行因果推断。研究提示，新生儿起病DEE的遗传诊断率高，支持一线全外显子测序作为首选；尽管癫痫控制，严重神经发育损害仍持续存在，提示除控制癫痫发作外，还需针对疾病机制的精准治疗。
AI 靶点发现临床研究International journal of molecular sciences
A Mechanistic Map of the Phenotypic Complexity in Recessive Dystrophic Epidermolysis Bullosa Provides Basis for Therapeutic Target Discovery and Drug Repurposing.
Sara Herráiz-Gil、Miriam Payá-Milans、María Del Carmen de Arriba、Lucía Martínez-Santamaría、Carlos Loucera、Nuria Illera、Marcela Del Río、Joaquín Dopazo、Carlos León、María José Escámez
作者机构
Departamento de Bioingeniería, Universidad Carlos III de Madrid, ROR Code 03ths8210, Avenida de la Universidad, 30 (Edificio Sabatini), 28911 Leganés, Spain.
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER-ISCIII), 28029 Madrid, Spain.
Instituto de Investigación Sanitaria Fundación Jiménez Díaz (IIS-FJD, UAM), 28040 Madrid, Spain.
Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas, 28040 Madrid, Spain.
Platform for Computational Medicine, Andalusian Public Foundation Progress and Health-FPS, 41092 Seville, Spain.
Computational Systems Medicine, Institute of Biomedicine of Seville (IBIS), Hospital Virgen del Rocío, 41013 Seville, Spain.
Sian Liu、Wenxin Zheng、Jin Kang、Tianyi Xu、Siming Chen、Gen Li、Junlong Li、Hang Wong、Meihao Wang、Xiaokai Bai、Changxi Hu、Cheng Tang、Shengwei Jin、Zixing Zou、Ieng Chong、Yuxing Lu、Io Nam Wong、Hui Xu、Charlotte L Zhang、Jingman Shi、Erhu Feng、Jinyu Gu、Zhuo Sun、Haibo Chen、Li Yang、Yuan Zhang、Xian Zhu、Huanhuan Huang、Xiuyuan Xu、Xue Li、Zhenhui Zhao、Hongbo Qi、Xinyu Lu、Ngaman Cheng、Sicheng Pan、Ning Sun、Yun Yin、Michelle Williams、Eric Oermann、John E J Rasko、Jin Li、Kai Wang、Kang Zhang、Hao Wu、Yubin Xia、Fanxin Zeng、International Consortium of Digital Twins in Healthcare and Medicine
作者机构
Center for Big Data and Intelligent Medicine, The First Affiliated Hospital of Chongqing Medical University; Key Laboratory of Digital Health and Intelligent Medicine, Chongqing Municipal Health Commission and Chongqing Translational Medicine Center, Chongqing, China.
State Key Lab of Eye Health and Clinical Data Science Institute, Institute for Advanced Study on Eye Health and Diseases, Eye Hospital, Wenzhou Medical University, Wenzhou, China.
Department of Computer Science, Shanghai Jiao Tong University, Shanghai, China.
Artificial Intelligence Cross Disciplinary Research Institute and Faculty of Medicine, Macau University of Science and Technology, Macau, China.
Department of Radiology, Department of Anesthesia and Critical Care, Key Laboratory of Pediatric Anesthesiology, Ministry of Education, The Second Affiliated Hospital of Wenzhou Medical University, Wenzhou, China.
College of Information Science and Electronic Engineering, Zhejiang University, Hangzhou, China.
Guangzhou National Laboratory, Guangzhou, China.
Department of Big Data and Biomedical AI, College of Future Technology, Peking University, Beijing, China.
College of Computer Science, Sichuan University, Chengdu, China.
Department of Clinical Research Center, Dazhou Central Hospital and Institute of Basic Medicine and Forensic Medicine, North Sichuan Medical College, Dazhou, China.
Department of Obstetrics, The First Affiliated Hospital of Chongqing Medical University, Chongqing, China.
Baichuan Inc., Beijing, China.
Department of Epidemiology and Population Health, Stanford University School of Medicine, Stanford, CA, USA.
Departments of Neurosurgery, Radiology and Data Science, Neuroscience Institute, NYU Langone Medical Center, New York University, New York, NY, USA.
Biomedical Pioneering Innovation Center (BIOPIC), School of Life Sciences, Peking University, Beijing, China.
College of Life Science, Fudan University, Shanghai, China. li_jin_lifescience@fudan.edu.cn.
Artificial Intelligence Cross Disciplinary Research Institute and Faculty of Medicine, Macau University of Science and Technology, Macau, China. kaiwang314@gmail.com.
State Key Lab of Eye Health and Clinical Data Science Institute, Institute for Advanced Study on Eye Health and Diseases, Eye Hospital, Wenzhou Medical University, Wenzhou, China. kang.zhang@gmail.com.
Artificial Intelligence Cross Disciplinary Research Institute and Faculty of Medicine, Macau University of Science and Technology, Macau, China. kang.zhang@gmail.com.
Guangzhou National Laboratory, Guangzhou, China. kang.zhang@gmail.com.
Center for Big Data and Intelligent Medicine, The First Affiliated Hospital of Chongqing Medical University; Key Laboratory of Digital Health and Intelligent Medicine, Chongqing Municipal Health Commission and Chongqing Translational Medicine Center, Chongqing, China. wuhao@cqmu.edu.cn.
Department of Computer Science, Shanghai Jiao Tong University, Shanghai, China. xiayubin@sjtu.edu.cn.
Department of Clinical Research Center, Dazhou Central Hospital and Institute of Basic Medicine and Forensic Medicine, North Sichuan Medical College, Dazhou, China. zengfx@pku.edu.cn.
为什么值得关注
AI 辅助短评，基于标题和摘要整理本文综述叶酸、核黄素与血压的关联，强调MTHFR C677T基因-营养素交互作用，提出精准营养干预潜力。选题具有公共卫生意义，尤其对TT基因型高频人群。然而，证据主要基于观察性研究和有限随机试验，机制尚未阐明，核黄素干预的长期效果及人群适用性需进一步验证。文章未报告原始数据，结论应谨慎解读。