Results 1 to 10 of about 13,095,395 (361)
Expert Consensus on the Application of Multiple criteria Decision Analysis in Comprehensive Clinical Evaluation of Orphan Drugs(2022) [PDF]
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 +1 more
doaj +2 more sources
Drug Repurposing for Rare Diseases
Trends in Pharmacological Sciences, 2021 Currently, there are about 7000 identified rare diseases, together affecting 10% of the population. However, fewer than 6% of all rare diseases have an approved treatment option, highlighting their tremendous unmet needs in drug development.
Mieke Van Haelst +2 more
exaly +2 more sources
Being the Pillar for Children with Rare Diseases—A Systematic Review on Parental Quality of Life
International Journal of Environmental Research and Public Health, 2021 Parents caring for children with rare diseases fear the long-term progression of the child’s disease. The current study aims to systematically investigate the quality of life (QoL) in parents of children with different rare diseases.
Johannes Boettcher +2 more
exaly +2 more sources
Identifying and Extracting Rare Diseases and Their Phenotypes with Large Language Models [PDF]
Journal of Healthcare Informatics Research, 2023 Purpose Phenotyping is critical for informing rare disease diagnosis and treatment, but disease phenotypes are often embedded in unstructured text.
Cathy Shyr, Yan Hu, P. Harris, Hua Xu
semanticscholar +1 more source
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 +4 more
doaj +1 more source
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 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
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罕见病研究, 2023 Cushing′s syndrome(CS)is a clinical syndrome caused by a variety of causes, with main manifestations exhibited by central obesity, purple skin striae, hypertension, and diabetes. In patients with adrenocorticotropic hormone(ACTH)-dependent CS, the result
Chinese Medical Association Rare Diseases Branch, Hypothalamic and Pituitary Disease Group of China Alliance of Rare Diseases (CARD) +1 more
doaj +1 more source
Consensus on the Treatment of Adrenocortical Carcinoma with Mitotane(2021)
Xiehe Yixue Zazhi, 2021 Adrenocortical carcinoma (ACC) is a rare malignant tumor that occurs in the adrenal cortex, and surgery is the first choice for treating ACC. Medical therapy and radiotherapy are adjuvant treatments for patients with unresectable metastasized tumors or ...
Multi-disciplinary Team for Rare Diseases, Peking Union Medical College Hospital
doaj +1 more source