The epidemiology and healthcare burden of rare diseases requiring hospitalisation among adult patients in Langkawi, Malaysia: Insights from a pilot study [0.03%]
马来西亚兰卡威成人住院患者的罕见疾病流行病学和医疗负担：一项试点研究的见解
Ngah Kuan Chow,Norazila Abdul Ghani,Nursyahmina Zamri et al.
Ngah Kuan Chow et al.
In Malaysia, rare diseases affect fewer than 1 in 4,000 people. As of 2020, 491 rare diseases have been recorded in Malaysia, but with limited epidemiological data. As the first study in Malaysia, this retrospective cohort study examined th...
Lysine succinylation analysis reveals the effect of Sirt5 on synovial fibroblasts in rheumatoid arthritis patients [0.03%]
精氨酸乙酰化修饰谱分析揭示Sirt5对类风湿关节炎滑膜成纤维细胞的影响
Huimin Shi,Yaqun Zhang,Jiaxuan Yin et al.
Huimin Shi et al.
Rheumatoid arthritis (RA) is an autoimmune disease with complex etiology, and its pathological mechanism remains unclear. Our aim was to explore the effect of protein succinylation on RA by silencing Sirt5, sequencing succinylated proteins,...
Reprogramming the future: Capitalizing on in vitro embryo culture by advancing stem cell technologies in the fight against rare genetic disorders [0.03%]
重编未来：通过推进干细胞技术利用体外胚胎培养对抗罕见遗传性疾病
Lisha Li,Taiwei Zhang,Zhaozhao Hua et al.
Lisha Li et al.
Capitalizing on breakthroughs in reproductive genetics, the utilization of in vitro embryo culture and stem cell technologies heralds a transformative era in addressing global challenges posed by rare genetic diseases. These cutting-edge pr...
Systematic review of phenotypes and genotypes of patients with gastrointestinal defects and immunodeficiency syndrome-1 (GIDID1) (related to TTC7A) [0.03%]
TTC7A基因相关胃肠缺陷和免疫缺陷综合征-1(GIDID1)表型和基因型系统综述
Amelie Busolin,Frederic Vely,Gilles Eymard-Duvernay et al.
Amelie Busolin et al.
The objective was to conduct a comprehensive review of the morbidity and mortality observed in published patients with gastrointestinal defects and immunodeficiency syndrome-1 (GIDID1) related to TTC7A abnormalities. This included phenotypi...
Critical issue in the identification of Down syndrome and its problems in Central Java, Indonesia: The fact of needing health care and better management [0.03%]
印尼中央爪哇地区唐氏综合症筛查及诊疗中存在的问题及急需改善医疗服务和管理的事实
Agustini Utari,Ferdy Kurniawan Cayami,Tithasiri Audi Rahardjo et al.
Agustini Utari et al.
We conducted a cross-sectional study to describe the health care problems of children with Down syndrome in Central Java, Indonesia. A total of 162 children (81 boys, 81 girls) with Down syndrome were included. Congenital heart defects and ...
The history of the Japanese Society for Neuro-infectious Diseases: Foundation, objectives, and legacy [0.03%]
日本神经感染病学会的历史：创立、目标和遗产
Hiroshi Shoji,Yoshihisa Yamano
Hiroshi Shoji
The Japanese Research Group for Neuro-infectious Diseases was founded in August 1996, and by 2004 it had evolved into the Japanese Society for Neuro-infectious Diseases. The Society focuses on neuroinfectious conditions (e.g., encephalitis/...
Lisha Li,Yiqin Zhang,Jing Zhou et al.
Lisha Li et al.
With the development of clinical experience and technology, rare diseases (RDs) are gradually coming into the limelight. As they often lead to poor prognosis, it is urgent to promote the accuracy and rapidity of diagnosis and promote the de...
A novel mutation in the OTOF gene in a Chinese family with auditory neuropathy [0.03%]
OTOF基因的新突变导致的一例中国听力神经病家系
Lin Deng,Cheng Wen,Yiding Yu et al.
Lin Deng et al.
Gene therapy for monogenic auditory neuropathy (AN) has successfully improved hearing function in target gene-deficient mice. Accurate genetic diagnosis can not only clarify the etiology but also accurately locate the lesion site, providing...
Epidemiology and distribution of 207 rare diseases in China: A systematic literature review [0.03%]
中国207种罕见病的流行病学和分布：系统文献回顾
Yukun Wang,Yicheng Liu,Guoyao Du et al.
Yukun Wang et al.
Epidemiological data on rare diseases in China are currently limited. The objective of this study was to provide a comprehensive understanding of the prevalence and incidence of rare diseases by systematically analyzing the available epidem...
Situs viscerum inversus and abdominal aortic aneurysm: A systematic review of a rare association [0.03%]
内脏反位合并腹主动脉瘤：一项关于罕见关联的系统评价
Paolo Ossola,Federico Mascioli,Andrea Pierre Luzzi et al.
Paolo Ossola et al.
Situs viscerum inversus (SVI) is a very rare condition in that abdominal and thoracic organs are located reversed. Abdominal aortic aneurysm (AAA) is a life-threatening pathology due to progressive aortic enlargement until the rupture. The ...