Results 111 to 120 of about 45,763 (247)

Granular cell tumor of the proximal esophagus. A rare disease [PDF]

, 1985
Hermanus D. Vuyk, Gordon B. Snow, Rammohan Tiwari, Dick van Velzen, Roelof W. Veldhuizen   +4 more
openalex   +1 more source

Cognitive and Patient‐Reported Outcome Measures in LGI‐1‐IgG Autoimmune Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Clinical outcome measures for autoimmune encephalitis (AE) are not yet well defined. Cognitive outcome measures (CogOs) and patient‐reported outcomes (PROs) may capture the symptoms of AE, beyond clinician‐reported outcomes (ClinROs) (the Modified Rankin Scale [mRS] and Clinical Assessment Scale in Autoimmune Encephalitis [CASE ...
Tatchaporn Ongphichetmetha, Carol Swetlik, Nicolas Thompson, Albert Aboseif, Vineet Punia, Brittany Lapin, Jeffrey A. Cohen, Rachel Galioto, Amy Kunchok   +8 more
wiley   +1 more source

Registries, Rare Diseases, and Results [PDF]

, 1989
A. J. Wing
openalex   +1 more source

The MSA Atrophy Index (MSA‐AI): An Imaging Marker for Diagnosis and Clinical Progression in Multiple System Atrophy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Reliable biomarkers are essential for tracking disease progression and advancing treatments for multiple system atrophy (MSA). In this study, we propose the MSA Atrophy Index (MSA‐AI), a novel composite volumetric measure to distinguish MSA from related disorders and monitor disease progression. Methods Seventeen participants with an
Paula Trujillo, Kilian Hett, Amy Cooper, Amy E. Brown, Jessica Iregui, Manus J. Donahue, M. Erik Landman, Italo Biaggioni, Margaret Bradbury, Cynthia Wong, David Stamler, Daniel O. Claassen   +11 more
wiley   +1 more source

Primary venous leiomyosarcoma: A rare but lethal disease [PDF]

, 1993
Matt Thompson, Richard K. Firmin, A.A. Bolia, Timothy R. Graham, Peter Bell   +4 more
openalex   +1 more source

Paroxysmal Dyskinesias Secondary to HHV‐6A Encephalitis: The First Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Paroxysmal dyskinesias encompasses a spectrum of conditions marked by intermittent involuntary movements, with paroxysmal kinesigenic dyskinesias being the most common phenotype. Central nervous system infection is a rare cause of paroxysmal dyskinesias.
Zhuoran Wang, Haiting Li, Xiaoping Du, Qiong Wang, Yating Zhang, Huifang Wang   +5 more
wiley   +1 more source

Genotype-phenotype correlation and founder effect analysis in southeast Chinese patients with sialidosis type I

Orphanet Journal of Rare Diseases
Background Sialidosis type 1 (ST-1) is a rare autosomal recessive disorder caused by mutation in the NEU1 gene. However, limited reports on ST-1 patients in the Chinese mainland are available.
Yi-Chu Du, Ling-Han Ma, Quan-Fu Li, Yin Ma, Yi Dong, Zhi-Ying Wu   +5 more
doaj   +1 more source

Rare diseases bullet 5: Primary pulmonary hypertension [PDF]

, 1999
A. Peacock
openalex   +1 more source

Observational Study of Tocilizumab in Children With Febrile Infection‐Related Epilepsy Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective This study aimed to assess the efficacy and safety of using tocilizumab in children with febrile infection‐related epilepsy syndrome (FIRES) and explore tocilizumab‐related changes in interleukin (IL)‐6 levels. Methods Patients with FIRES admitted to the Intensive Care Unit (ICU) of Beijing Children's Hospital were retrospectively ...
Yushan He, Jie Wu, Chaonan Fan, Zheng Li, Jun Liu, Kechun Li, Quan Wang, Suyun Qian   +7 more
wiley   +1 more source

Clinical Characteristics of Parkinsonism in HTLV‐1‐Associated Myelopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Human T‐lymphotropic virus type 1 (HTLV‐1)‐associated myelopathy/tropical spastic paraparesis (HAM/TSP) is the classic neurological manifestation of HTLV‐1 infection; however, this virus has also been associated with other neurological disorders. Concurrent parkinsonism is relatively rare and presents diagnostic challenges.
Mika Dozono, Satoshi Nozuma, Shota Hirakata, Takashi Yoshida, Daisuke Kodama, Masakazu Tanaka, Eiji Matsuura, Ryuji Kubota, Hiroshi Takashima   +8 more
wiley   +1 more source