From care to cure: a patient engagement framework for rare disease and orphan drug research [0.03%]
从关怀到治愈：罕见病和孤儿药研究中的患者参与框架
Nahya Awada,Anil Varughese
Nahya Awada
Background: Rare diseases (RDs) encompass over 6000-8000 conditions, with 94% lacking available therapies. These conditions affect 400 million people globally, including three million Canadians, who face numerous challeng...
Clinical characteristics, treatments, and complications of Kawasaki disease in Peruvian children: a retrospective observational study [0.03%]
秘鲁儿童川崎病的临床特征、治疗及并发症：一项回顾性观察研究
Noé Atamari-Anahui,Giancarlo Alvarado-Gamarra,Nadin Conto-Palomino et al.
Noé Atamari-Anahui et al.
Background: Kawasaki disease (KD) is a rare medium-sized vessel vasculitis that is the leading cause of acquired heart disease in children. However, most studies on KD focused on its occurrence in infants aged
Individualized therapy development for rare diseases: individualized at every step of the way [0.03%]
罕见病的个体化治疗开发：步步个性化
Marlen C Lauffer,Tim Yu,Annemieke Aarstma-Rus
Marlen C Lauffer
Gene therapy for children with X-linked myotubular myopathy: a plain language summary of publication for the ASPIRO study [0.03%]
ASPIRO研究的通俗解读：用于X连锁肌管性肌病儿童患者的基因治疗
Perry B Shieh,Wendy Hughes,Marie Wood et al.
Perry B Shieh et al.
What is this summary about? This summary describes the results of a research study (clinical trial) called ASPIRO that was published in the Lancet Neurology in 2023. This study looked at an investigational gene therapy called resamirigene b...
Systemic inflammation in Fabry disease: a longitudinal immuno-genetic analysis based on variant stratification [0.03%]
基于变异分层的长效免疫遗传学分析在弗莱特病系统性炎症中的应用
Haylen Marín Gómez,Miguel López-Garrido
Haylen Marín Gómez
Background: Fabry disease is a multisystemic lysosomal disorder caused by mutations in the GLA gene. Although traditionally attributed to lysosomal accumulation of globotriaosylceramide (Gb3), recent evidence suggests a k...
Addressing rare diseases and access to surgical care in Brazil: a call to action [0.03%]
应对巴西罕见病及手术治疗可及性问题：行动呼吁
Ayla Gerk,Letícia Nunes Campos,Luiza Telles et al.
Ayla Gerk et al.
Updated demographics categories to capture the true diversity of an international registry of rare disease patients [0.03%]
更新人口统计类别以捕捉罕见病国际注册患者真正的多样性
Nicole Kressin,Michael E Shy,Tara Jones et al.
Nicole Kressin et al.
Background: NIH requires NIH-funded studies to use historical race and ethnicity categories-originally put forth by the Office of Management and Budget in 1997-for demographics collection. These historical categories were...
Sparsentan in IgA nephropathy: a plain language summary of publication for the PROTECT study [0.03%]
IgA肾病PROTECT研究的通俗解读：斯巴欣治疗IgA肾病的研究发表
Brad H Rovin,Radko Komers,Chris Scroggins et al.
Brad H Rovin et al.
What is this summary about? Sparsentan (FILSPARI®) is a once-daily pill for people with Immunoglobulin A (IgA) nephropathy who are at high risk for worsening kidney disease. Early results from a research study (clinical trial) called PROTE...
Enhancing and leveraging principal investigator and patient advocacy group collaboration in rare disease clinical research-meeting report from the rare Diseases Clinical Research Network [0.03%]
罕见病临床研究中的资助者和患者团体合作的加强及推广——罕见病临床研究网络会议报告
Kristen Wheeden,Sheridan Meyers,Kristin Anthony et al.
Kristen Wheeden et al.
The Rare Diseases Clinical Research Network (RDCRN) works toward faster diagnosis and better treatment for people living with rare diseases, specifically by advancing clinical trial readiness. Inclusion of patient advocacy groups (PAGs) is ...
Finding buried genetic test results in the electronic health record is inefficient and variable across institutions [0.03%]
在电子健康记录中查找埋没的遗传检测结果在各机构的效率低下且具有差异性
Olivia J Veatch,Jomol Mathew,Shira Rockowitz et al.
Olivia J Veatch et al.
Background: The absence of standardized approaches for handling genetic test results in electronic health records (EHRs), combined with a lack of diagnostic codes for most rare disorders, hinders accurate and timely ident...