Results 191 to 200 of about 1,474,438 (314)

The aetiopathogenesis, cardiovascular and metabolic complications, and pharmacogenomics of Addison's disease in South Africa

, 2011
Includes abstract.Includes bibliographical references.This thesis aimed to address a number of unanswered research questions in Addison's Disease: investigate whether autoimmunity is the predominant cause of Addison's disease in South Africa and if a
Ross, Ian Louis
core  

Long‐Term Efficacy of Immunotherapy in Autoimmune Autonomic Ganglionopathy—A 10‐Year Follow Up Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Autoimmune autonomic ganglionopathy (AAG) is a rare but potentially treatable cause of severe autonomic failure. Evidence guiding long‐term immunotherapy, treatment sequencing, and residual autonomic impairment is limited. We evaluated long‐term treatment response, residual autonomic dysfunction, and relapse patterns in patients with
Giacomo Chiaro, Shiwen Koay, Gordon T. Ingle, Patricia McNamara, Laura Watson, Fion Bremner, Valeria Iodice   +6 more
wiley   +1 more source

Application of knowledge graphs in rare disease research. [PDF]

Front Public Health
Fei Y, Ding H, Tong S, He Y, Cai W.
europepmc   +1 more source

Clinical Impact of NOTCH3 Variant Location After First Stroke in CADASIL

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Despite its monogenic origin, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy exhibits marked variability in clinical expression and severity. Variants in the NOTCH3 gene, within epidermal growth factor‐like repeat domains 1–6 or 7–34, are known to influence disease onset, but their impact ...
Léa Aguilhon, Hugues Chabriat, Dominique Hervé, Stéphanie Guey, Sophie Tezenas Du Montcel, Juliette Ortholand   +5 more
wiley   +1 more source

Characteristics of Patients with Myasthenia Gravis in the French Rare Disease Registry. [PDF]

Eur J Neurol
Camdessanche JP, Echaniz-Laguna A, Solé G, Blein C, Ciumas M, Messiaen C, Jannot AS, Attarian S.   +7 more
europepmc   +1 more source

Spotlight on rare diseases [PDF]

The Lancet Diabetes & Endocrinology, 2019
openaire   +2 more sources

A Rare Presentation of Crohn's Disease

, 2008
Free peritoneal perforation is a rare complication of Crohn's disease with a report of only 100 cases in the literature. It needs an emergency exploration and an unaware general surgeon is confounded in intraoperative decision-making.
Bhat, Sriram M, M, Ashfaque, Ashfaque M, Sriram Bhat M, Sendhil RK, Balu K, K, Balu, Bhat M, Sriram, Madhusudhanan J, J, Madhusudhanan, RK, Sendhil   +10 more
core  

Comprehensive Characterization of 98 Chinese Cases of Genetic Creutzfeldt‐Jakob Disease With T188K Mutation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterize the demographic, clinical, and laboratory features of the Chinese patients of genetic Creutzfeldt‐Jakob disease with T188K variant (T188K‐gCJD), the most common subtype of genetic prion diseases (gPrDs) in China. Methods In this nationwide retrospective study, data from 98 genetically confirmed T188K‐gCJD patients ...
Chun‐Jie Li, Dong‐Lin Liang, Li‐Ping Gao, Wei‐Wei Zhang, Wei Zhou, A. Ruhan, Bing Xu, Run‐Dong Cao, Kang Xiao, Cao Chen, Qi Shi, Xiao‐Ping Dong   +11 more
wiley   +1 more source

An agentic system for rare disease diagnosis with traceable reasoning. [PDF]

Nature
Zhao W, Wu C, Fan Y, Qiu P, Zhang X, Sun Y, Zhou X, Zhang S, Peng Y, Wang Y, Sun X, Zhang Y, Yu Y, Sun K, Xie W.   +14 more
europepmc   +1 more source

Early Recognition of Treatment‐Responsive Rapidly Progressive Dementia: The Modified STAM3mP Score

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Early identification of patients with treatment‐responsive rapidly progressive dementia (RPD) is important as early treatment improves outcomes. The STAM3P score identifies treatment‐responsive RPD using “high risk” presenting features. We optimized performance by adding a time component (i.e., dementia within 3 months) and validated the ...
R. W. van Steenhoven, N. Satyadev, A. E. M. Bastiaansen, Y. D. Piura, J. Kerstens, Y. S. Crijnen, J. Brenner, T. Brand, T. M. Bienfait, S. Veenbergen, J. M. de Vries, F. J. de Jong, E. G. P. Dopper, P. A. E. Sillevis Smitt, H. Seelaar, G. S. Day, M. J. Titulaer   +16 more
wiley   +1 more source