Results 81 to 90 of about 13,095,395 (361)

Digital-Intellectualized Upgrade and Clinical Application of National Rare Diseases Registry System of China [PDF]

Since its establishment in 2016, the National Rare Diseases Registry System of China (NRDRS) has accumulated valuable case data and bio-specimen for basic and clinical research on rare diseases in China.
GUO Jian, JIN Ye, LIU Peng, CHEN Limeng, ZHANG Shuyang, on behalf of the administrative group of National Rare Diseases Registry System of China, ZHANG Dingding, ZHU Yicheng   +7 more
core   +1 more source

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

罕见病研究
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, China Alliance for Rare Diseases, Beijing Society of Rare Disease Clinical Care and Accessibility, Bartter Syndrome Consensus Working Group   +4 more
doaj   +1 more source

Incidence and prevalence of 121 rare diseases in China: Current status and challenges: 2022 revision.

Intractable & Rare Diseases Research, 2022
The current study updated data on the incidence and prevalence of 121 rare diseases listed in China's First List of Rare Diseases to provide rationales and references for the development and promotion of rare-disease-related policies. The National Health
Yan-qin Lu, Qingxia Gao, X. Ren, Junfeng Li, Dan Yang, Zijian Zhang, Jinxiang Han   +6 more
semanticscholar   +1 more source

Construction and Application of National Rare Diseases Registry System of China [PDF]

, 2022
Rare diseases have been a major challenge for clinical medicine and public health challenge in China. One of the effective measures is to conduct proactive research on rare diseases to deal with the disease burden of the diseases. However, low prevalence,
CHENG Jingqiu, GUO Jian, LIU Peng, CHEN Limeng, ZHANG Shuyang, JING Zhicheng, GU Weihong, LIU Jianmin, ZHU Yicheng, DING Jie   +9 more
core   +1 more source

Therapeutic Targeting of the Complement System: From Rare Diseases to Pandemics

Pharmacological Reviews, 2021
The complement system was discovered at the end of the 19th century as a heat-labile plasma component that “complemented” the antibodies in killing microbes, hence the name “complement.” Complement is also part of the innate immune system, protecting the
P. Garred, A. Tenner, T. Mollnes
semanticscholar   +1 more source

European Standard Clinical Practice Guideline and EXPeRT Recommendations for the Diagnosis and Management of Gastroenteropancreatic Neuroendocrine Neoplasms in Children and Adolescents

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Pediatric gastroenteropancreatic neuroendocrine neoplasms (GEP‐NENs) are extremely rare and clinically heterogeneous. Management has largely been extrapolated from adult practice. This European Standard Clinical Practice Guideline (ESCP), developed by the EXPeRT network in collaboration with adult NEN experts, provides (adult) evidence ...
Michaela Kuhlen, Calogero Virgone, Antje Redlich, Michael Abele, Ricardo Lopez‐Almaraz, Tal Ben‐Ami, Ewa Bien, Gianni Bisogno, Maja Mazic Cesen, Andrea Ferrari, Malgorzata A. Krawczyk, Yves Reguerre, Dominik T. Schneider, Ines B. Brecht, Charlotte Rigaud, Bilgehan Yalcin, Rainer Claus, Christian Vokuhl, Constantin Lapa, Jörg Fuchs, Segolene Hescot, Thomas Walter, Julien Hadoux, Daniel Orbach   +23 more
wiley   +1 more source

The cumulative incidence and trends of rare diseases in South Korea: a nationwide study of the administrative data from the National Health Insurance Service database from 2011-2015 [PDF]

, 2019
BACKGROUND: The burden of rare diseases on society and patients' families has increased in Korea. However, because of the infrequency of rare diseases, there is a lack of resources and information to address these cases and inadequate funding for the ...
김지현, 김영광, 윤진하
core   +1 more source

Global Health for Rare Diseases through Primary Care

Lancet Global Health
Rare Diseases, affecting over 300 million people worldwide, are gaining recognition as a global health priority. Their inclusion in the Sustainable Development Goals, the UN Resolution on Addressing the Challenges of Persons Living with a Rare Disease ...
Gareth S Baynam, Adam L. Hartman, M. C. V. Letinturier, Matt Bolz-Johnson, Prescilla Carrion, Alice Chen Grady, Xinran Dong, Marc Dooms, L. Dreyer, H. Graessner, A. Granados, T. Groza, Elisa Houwink, S. Jamuar, Tania Vasquez-Loarte, Birutė Tumienė, Samuel A Wiafe, Heidi Bjornson-Pennell, Stephen Groft   +18 more
semanticscholar   +1 more source

Cost-of-illness studies in rare diseases: a scoping review

Orphanet Journal of Rare Diseases, 2021
Objective The aim of this scoping review was to overview the cost-of-illness studies conducted in rare diseases. Methods We searched papers published in English in PubMed from January 2007 to December 2018.
L. García-Pérez, R. Linertová, C. Valcárcel-Nazco, M. Posada, I. Gorostiza, P. Serrano-Aguilar   +5 more
semanticscholar   +1 more source

Genomic Diversity and Clinical Variability in Pediatric Primary Cutaneous Anaplastic Large Cell Lymphoma: A Case Series

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Primary cutaneous anaplastic large cell lymphoma (pcALCL) is a rare pediatric CD30‐positive T‐cell lymphoproliferative disorder with an excellent prognosis, but its genomic drivers are poorly defined. We report three children with skin‐limited disease demonstrating striking molecular heterogeneity, including NPM::ALK, NUP214::FRK, and a novel ...
Shoshana Greenberger, Efrat Bar‐Ilan, Victoria Marcu, Evgeny Grishin, Rinat Yacobi, Aviv Barzilai, Hana Golan, Assaf Arie Barg   +7 more
wiley   +1 more source