Results 11 to 20 of about 11,812,623 (407)

RareBench: Can LLMs Serve as Rare Diseases Specialists? [PDF]

arXiv
Generalist Large Language Models (LLMs), such as GPT-4, have shown considerable promise in various domains, including medical diagnosis. Rare diseases, affecting approximately 300 million people worldwide, often have unsatisfactory clinical diagnosis rates primarily due to a lack of experienced physicians and the complexity of differentiating among ...
Xuanzhong Chen, Xiaohao Mao, Qihan Guo, Lun Wang, Shuyang Zhang, Ting Chen   +5 more
arxiv   +3 more sources

National Rare Diseases Registry System (NRDRS): China’s first nation-wide rare diseases demographic analyses

Orphanet Journal of Rare Diseases, 2021
Background China has made tremendous progresses in serving the needs of its people living with rare diseases in the past decade, especially over the last 5 years.
Jian Guo, Peng Liu, Limeng Chen, Haohan Lv, Jie Li, Weichao Yu, Kaifeng Xu, Yicheng Zhu, Zhihong Wu, Zhuang Tian, Ye Jin, Rachel Yang, Weihong Gu, Shuyang Zhang, the Administrative Group of National Rare Diseases Registry System of China   +14 more
doaj   +2 more sources

Analysis of the human diseasome reveals phenotype modules across common, genetic, and infectious diseases [PDF]

, 2014
Phenotypes are the observable characteristics of an organism arising from its response to the environment. Phenotypes associated with engineered and natural genetic variation are widely recorded using phenotype ontologies in model organisms, as are signs
Gkoutos, Georgios V, Hoehndorf, Robert, Schofield, Paul N   +2 more
core   +3 more sources

Expert Consensus for the Diagnosis and Treatment of Bartter Syndrome in China(2023)

Xiehe Yixue Zazhi, 2023
Bartter syndrome (BS) is a rare inherited salt-losing renal tubular disorder characterized by secondary hyperaldosteronism with hypokalemia and hypochloremic metabolic alkalosis, and normal or low blood pressure.
Chinese Society of Rare Diseases, Rare Diseases Society of Chinese Research Hospital Association, National Rare Diseases Committee, Beijing Rare Disease Diagnosis, Treatment and Protection Society   +4 more
doaj   +1 more source

Expert Consensus on the Application of Multi-criteria Decision Analysis in Clinical Comprehensive Evaluation of Orphan Drugs(2022)

Xiehe Yixue Zazhi, 2022
Comprehensive drug evaluation is an important technical tool for decision-making on drug supply. Traditional health technology of evaluation provides methodological references for comprehensive clinical evalu-ation of drugs.
Multi-disciplinary Team for Rare Diseases, Peking Union Medical College Hospital, National Rare Diseases Committee
doaj   +1 more source

Expert Consensus on Clobazam in the Treatment of Refractory Epilepsy (2022)

Xiehe Yixue Zazhi, 2022
After regular anti-epileptic drug treatment, the symptoms of most patients with epilepsy can be well controlled or relieved, but 30%-40% of patients with epilepsy, after long-term drug treatment, still suffer from repeated seizures and develop refractory
Multi-disciplinary Team for Rare Diseases, Peking Union Medical College Hospital National Rare Diseases Committee
doaj   +1 more source

Expert Consensus on the Application of Multiple criteria Decision Analysis in Comprehensive Clinical Evaluation of Orphan Drugs(2022)

罕见病研究, 2022
Comprehensive clinical drug evaluation is an important technical tool for decision-making on drug supply. Traditional evaluation on health technology provides methodological references for comprehensive clinical evalu-ation of drugs.
Multi-disciplinary Team for Rare Diseases, Peking Union Medical College Hospital, China Alliance for Rare Diseases   +1 more
doaj   +1 more source

A comprehensive study of the rare diseases and conditions targeted by orphan drug designations and approvals over the forty years of the Orphan Drug Act

Orphanet Journal of Rare Diseases, 2023
Background Rare diseases affect more than 30 million Americans. The passage of the Orphan Drug Act (ODA) in the United States in 1983 represented a launching point for a rare disease drug development revolution for these patients.
Lewis J. Fermaglich, K. L. Miller
semanticscholar   +1 more source

The Impact of Artificial Intelligence in the Odyssey of Rare Diseases

Biomedicines, 2023
Emerging machine learning (ML) technologies have the potential to significantly improve the research and treatment of rare diseases, which constitute a vast set of diseases that affect a small proportion of the total population.
Anna Visibelli, Bianca Roncaglia, O. Spiga, Annalisa Santucci   +3 more
semanticscholar   +1 more source

Expert Consensus for the Diagnosis and Treatment of Gitelman Syndrome in China (2021)

Xiehe Yixue Zazhi, 2021
In recent years, research on the clinical phenotypes, new classifications, modified functional tests, biomarkers and management experience for patients with Gitelman syndrome (GS)has made a lot of progress in China. Based on evidence-based medicine, this
Rare Diseases Society of Chinese Research Hospital Association, National Rare Diseases Committee, Beijing Rare Disease Diagnosis, Treatment and Protection Society, Gitelman Syndrome Consensus Working Group
doaj   +1 more source