Results 201 to 210 of about 11,812,623 (407)

Assessing and Enhancing Large Language Models in Rare Disease Question-answering [PDF]

arXiv
Despite the impressive capabilities of Large Language Models (LLMs) in general medical domains, questions remain about their performance in diagnosing rare diseases. To answer this question, we aim to assess the diagnostic performance of LLMs in rare diseases, and explore methods to enhance their effectiveness in this area. In this work, we introduce a
arxiv  

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

Establishing a second-generation artificial intelligence-based system for improving diagnosis, treatment, and monitoring of patients with rare diseases

European Journal of Human Genetics, 2021
N. Hurvitz, Henny Azmanov, Asa Kesler, Y. Ilan   +3 more
semanticscholar   +1 more source

KIF5A p.Pro986Leu Risk Variant and Accelerated Progression of Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study explored the impact of KIF5A rs113247976 (p.Pro986Leu), a risk allele for amyotrophic lateral sclerosis (ALS), on phenotypic variability in two Italian ALS cohorts (discovery, n = 865; replication, n = 1174). The minor allele (T) frequency was 0.015.
Arianna Manini, Rosario Vasta, Alberto Brusati, Francesco Scheveger, Silvia Peverelli, Alessio Maranzano, Alberto Doretti, Francesco Gentile, Eleonora Colombo, Maura Brunetti, Cristina Moglia, Antonio Canosa, Umberto Manera, Maurizio Grassano, Davide Gentilini, Stefano Messina, Federico Verde, Claudia Morelli, John E. Landers, Bryan J. Traynor, Adriano Chiò, Vincenzo Silani, Andrea Calvo, Antonia Ratti, Nicola Ticozzi   +24 more
wiley   +1 more source

Relevance of mycotoxins to product quality and animal health in organic farming [PDF]

, 2002
Organic farming is not generally more endangered by the risk of contamination of the products with mycotoxins than other farming systems. Knowledge about the influence of litter beddings on mycotoxin exposure of livestock is rare.
Paulsen, Hans Marten, Weißmann, Friedrich   +1 more
core  

Registries, Rare Diseases, and Results [PDF]

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

Discontinuation of Immunotherapy in Patients With Relapsing Myelitis Without AQP4/MOG Antibodies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study assesses the outcomes of immunotherapy discontinuation in patients with relapsing seronegative idiopathic myelitis (SIM), a condition that remains uninvestigated due to its rarity. We reviewed records from 77 patients with relapsing SIM at the National Cancer Center of Korea, focusing on 11 who discontinued treatment after a median ...
Ki Hoon Kim, You‐Ri Kang, Jae‐Won Hyun, Su‐Hyun Kim, Ho Jin Kim   +4 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

Validity and Reliability of Clinical and Patient‐Reported Outcomes in Multisystem Proteinopathy 1

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Valosin‐containing protein (VCP)‐associated multisystem proteinopathy 1 (MSP1) is caused by variants in the VCP gene. MSP1 results in various phenotypes including progressive myopathy, Paget's disease of bone, frontotemporal dementia, amyotrophic lateral sclerosis, and parkinsonism, among others.
Lindsay N. Alfano, Megan A. Iammarino, Natalie F. Reash, Linda P. Lowes, Lindsay Pietruszewski, Kathleen Adderley, Lauren Humphrey, Audrey B. Knight, Christopher L. Steiner, Melissa A. Smith, Zarife Sahenk, Anne M. Connolly, Momen Almomen, Eleonora S. D'Ambrosio, Nathan Peck, Allison Peck   +15 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