Results 1 to 10 of about 45,763 (247)

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

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

Expert Consensus on Bilateral Inferior Petrosal Sinus Sampling in the Diagnosis of Cushing′s Syndrome (2023)

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), Innovation Center of Pituitary Diseases, Peking Union Medical College Hospital   +1 more
doaj   +1 more source

Biomarkers in Rare Diseases [PDF]

International Journal of Molecular Sciences, 2021
There is no single global definition of a rare disease, and for different geographical areas the definition is based on the disease occurrence in that population [...]
openaire   +3 more sources

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

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

罕见病研究, 2022
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, China Alliance for Rare Disease, Beijing Society of Rare Disease Clinical Care and Accessibility, Gitelman Syndrome Consensus Working Group   +3 more
doaj   +1 more source

Erdheim-Chester Disease [PDF]

Journal of Investigative Medicine High Impact Case Reports, 2016
Erdheim-Chester disease (ECD) is a rare, xanthogranulomatous, non-Langerhans cell histiocytosis with frequent systemic involvement. Although the diagnosis is based on characteristic histological and radiological findings, its identification can be challenging because of its heterogeneous presentation.
Javier Arias-Stella, Melissa Matzumura, James E. Novak   +2 more
openaire   +3 more sources