Results 251 to 260 of about 2,414,789 (346)

Neuroinflammation in GAD65 Antibody‐Associated Epilepsy Measured Using [18F]DPA‐714 PET/MRI

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The timing for initiating immunotherapy in patients with glutamic acid decarboxylase 65 (GAD65) antibody‐associated epilepsy is a challenge. We used the translocator protein radioligand [18F]DPA‐714 and PET to evaluate brain microglial activation.
Jingjing Chen, Yuying Zhang, Heyu Zhang, Jinming Zhang, Ningning Wang, Xintong Guo, Yicong Liu, Yue Liu, Xiangsong Zhang, Ziyi Chen, Guanzhong Ni   +10 more
wiley   +1 more source

RNA-Seq of Cultured Peripheral Blood Lymphocytes Improves Identification of Cryptic Splicing Defects in Rare Disease Diagnostics. [PDF]

Hum Mutat
Ren J, Dai C, Meng F, Zhang P, Xie C, Xiao W, He W, Yuan S, Li X, Zhang Q, Tang W, Hu L, Chen Z, Lu G, Du J, Zeng S, Lin G.   +16 more
europepmc   +1 more source

TBK1‐Associated Primary Lateral Sclerosis Followed by Right Temporal Variant Frontotemporal Dementia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We report a 58‐year‐old woman with a novel splice‐site variant in the TANK‐binding kinase 1 (TBK1:c.993–2A>C p.Ala332TyrfsTer39) who sequentially developed primary lateral sclerosis (PLS) followed by right temporal variant frontotemporal dementia (rtvFTD). Neuroimaging demonstrated right anterior temporal atrophy before cognitive symptoms, and
Tomoyasu Matsubara, Naoki Kihara, Satoko Miyatake, Koji Fujita, Konoka Tachibana, Ryosuke Miyamoto, Hiroki Yamazaki, Yusuke Osaki, Nazere Keyoumu, Yuki Kuwano, Nobutoshi Morimoto, Suzuran Saito, Eriko Koshimizu, Yoichi Otomi, Kenji Ishibashi, Masafumi Harada, Naomichi Matsumoto, Hiroyuki Morino, Yuishin Izumi   +18 more
wiley   +1 more source

Global partnerships in rare disease research.

Dis Model Mech
Rogic S, Poirier-Morency G, Hieter P, Pavlidis P.   +3 more
europepmc   +1 more source

An integrated approach for rare disease detection and classification in Spanish pediatric medical reports. [PDF]

Sci Rep
Duque A, Araujo L, Martinez-Romo J, Esteban-Vasallo MD, Domínguez-Berjón MF, Malillos Perez D.   +5 more
europepmc   +1 more source

A Scoping Review on Artificial Intelligence–Supported Interventions for Nonpharmacologic Management of Chronic Rheumatic Diseases

Arthritis Care &Research, EarlyView.
This review summarizes artificial intelligence (AI)‐supported nonpharmacological interventions for adults with chronic rheumatic diseases, detailing their components, purpose, and current evidence base. We searched Embase, PubMed, Cochrane, and Scopus databases for studies describing AI‐supported interventions for adults with chronic rheumatic diseases.
Nirali Shah, Alexis Castellanos, Yen Chen, John Piette, Amy Bucher, Susan Murphy   +5 more
wiley   +1 more source

ZebraMap: A Multimodal Rare Disease Knowledge Map with Automated Data Aggregation & LLM-Enriched Information Extraction Pipeline. [PDF]

Diagnostics (Basel)
Islam MS, Jamal A, Alkhathlan A.
europepmc   +1 more source

Development of a Personalized Visualization and Analysis Tool to Improve Clinical Care in Complex Multisystem Diseases With Application to Scleroderma

Arthritis Care &Research, EarlyView.
Objective In complex diseases, it is challenging to assess a patient's disease state, trajectory, treatment exposures, and risk of multiple outcomes simultaneously, efficiently, and at the point of care. Methods We developed an interactive patient‐level data visualization and analysis tool (VAT) that automates illustration of the trajectory of a ...
Ji Soo Kim, John Scott, Lauren Fisher, Lauren N. Smith, Willie Stewart, Adrianne Woods, Rob Smithwright, Diane Koher, Parastoo Aslanbeik, Aalok B. Shah, Brad Tibbils, Samantha I. Pitts, Ayse P. Gurses, Yushi Yang, Ana‐Maria Orbai, Antony Rosen, Laura K. Hummers, Scott L. Zeger, Ami A. Shah   +18 more
wiley   +1 more source

The patient-driven Rare Disease Research Network: turning research on its head. [PDF]

BMJ Open
Balfour J, Cowley LB, Windsor G, Dalby E, Sibley M, Hunter A, Smith RM.   +6 more
europepmc   +1 more source

WITHDRAWN: Cervicofacial necrotizing fasciitis: A rare disease with a high mortality requiring early debridement for survival

, 2016
Alan Y. Martínez, Christopher R. McHenry, Leopoldo Meneses Rivadeneira   +2 more
openalex   +1 more source