Results 181 to 190 of about 1,622,414 (348)

Prediction of Myasthenia Gravis Worsening: A Machine Learning Algorithm Using Wearables and Patient‐Reported Measures

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Myasthenia gravis (MG) is a rare disorder characterized by fluctuating muscle weakness with potential life‐threatening crises. Timely interventions may be delayed by limited access to care and fragmented documentation. Our objective was to develop predictive algorithms for MG deterioration using multimodal telemedicine data ...
Maike Stein, Haoqi Sun, Sophie Lehnerer, Lea Gerischer, Maximilian Mönch, Christian Meisel, Andreas Meisel, Pushpa Narayanaswami   +7 more
wiley   +1 more source

Primary Pulmonary Lymphoma: An Extremely Rare Disease [PDF]

, 2013
Sujith V. Cherian, Subhraleena Das, Shakuntala H. Mauzo, Hayas Haseer Koya, Dona Varghese, Rahat Hussain   +5 more
openalex   +1 more source

Chronological and Spatial Distribution of Skeletal Muscle Fat Replacement in FHL1‐Related Myopathies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Variants in the FHL1 gene cause FHL1‐related myopathies (FHL1‐RMs), a group of neuromuscular disorders with diverse clinical presentations. This study aimed to comprehensively characterize the spatial and temporal patterns of skeletal muscle fat replacement throughout the whole body in FHL1‐RMs, to examine disease progression over ...
Rui Shimazaki, Satoru Noguchi, Hotake Takizawa, Yasushi Oya, Yuji Takahashi, Hirofumi Komaki, Hajime Arahata, Shinichiro Hayashi, Ichizo Nishino   +8 more
wiley   +1 more source

The United Nations convention on rare diseases-A framework for research prioritization. [PDF]

Front Public Health
Junaid M, Downs J, Groza T, Lassmann T, Baker S, Stevens K, Keeffe J, Gration D, Newell A, Duckers J, Baynam G.   +10 more
europepmc   +1 more source

CASTLEMANS DISEASE: A RARE FINDING IN A PEDIATRIC NECK. [PDF]

, 2019
Mohamed Elbouderkaoui, Rida AitElabdia, Youssef Lakhdar, Youssef Rochdi, Hassan Nouri, Abdelaziz Raji, Abdelaziz Raji   +6 more
openalex   +1 more source

Will Memantine Exacerbate Seizures in People With Epilepsy? A Prospective Cohort Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate whether add‐on memantine would exacerbate seizures in people with epilepsy. Methods This was a prospective cohort study. People with epilepsy diagnosed with cognitive impairment were consecutively invited. Those who agreed were followed up for at least 24 weeks.
Peiyu Wang, Lu Lu, Hui Gao, Qi Zhang, Jing Xiao, Josemir W. Sander, Weixi Xiong, Dong Zhou   +7 more
wiley   +1 more source

Integrating rare diseases into Africa's digital health strategies. [PDF]

PLOS Digit Health
Gamba SF, Magili M.
europepmc   +1 more source

Daratumumab Treatment for Chronic Inflammatory Demyelinating Polyradiculoneuropathy (CIDP): A Case Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is an immune‐mediated neuropathy featuring progressive weakness, sensory deficits, and areflexia. While corticosteroids, intravenous immunoglobulin, and plasmapheresis are effective first‐line immunotherapies, a subset of patients remains treatment‐refractory.
Xueyu Zhang, Jianli Zhao, Xue Zhao, Xiaowei Hu, Zichun Xiao, Jie Wu, Xiaowen Li, Jing Xu, Yu‐Jing Li   +8 more
wiley   +1 more source

Policy evaluation frameworks for rare diseases: a scoping review. [PDF]

BMC Health Serv Res
Çakmak Barsbay M, Aydamak MY.
europepmc   +1 more source

Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz, Josefine Eck, Joel S. Winston, Kate Baker   +3 more
wiley   +1 more source