Results 241 to 250 of about 25,612 (298)

Augmenting large language models to predict social determinants of mental health in opioid use disorder using patient clinical notes. [PDF]

JAMIA Open
Pagare M, Bheesetti DSK, Essien-Aleksi I, Alam MAU.   +3 more
europepmc   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

Successful Public Speaking Enhances Neural Alignment in Audience Language Networks. [PDF]

Neurobiol Lang (Camb)
Zhang X, Wang B, Zhang L, Pu Y, Kong XZ.
europepmc   +1 more source

A Systematic Review and Meta‐Analysis of the Recurrence of Autoimmune Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Autoimmune encephalitis (AE) is a disease with a potential for recurrence, and patients receive immunotherapy to prevent it. However, there is no consensus on the duration of immunotherapy. This study aimed to determine the recurrence rate and identify the risk factors for AE to provide guidance on the duration of immunotherapy ...
Shangkai Bai, Sen Zhang, Haipei Zhang, Yating Zhang, Junhong Guo, Xiaoyan Yang   +5 more
wiley   +1 more source

SynthEHR-eviction: enhancing eviction SDoH detection with LLM-augmented synthetic EHR data. [PDF]

NPJ Digit Med
Yao Z, Zhao Y, Mitra A, Levy DA, Druhl E, Tsai J, Yu H.   +6 more
europepmc   +1 more source

Innate Immune Reprogramming Mediated by Endogenous Retroelement Dysregulation Drives Multiple Sclerosis Progression

Annals of Clinical and Translational Neurology, EarlyView.
Epigenetic reprogramming in hematopoietic stem and progenitor cells (HSPCs) and downstream myeloid cells, mediated by H3.3 downregulation and endogenous retroelement (ERE) overexpression, contributes to the progression of multiple sclerosis (MS). ABSTRACT Background Skewed myelopoiesis in the bone marrow has been identified as a key driver of multiple ...
Li‐Mei Xiao, Qiu‐Ping Zhao, Run‐Yun Li, Wei Chen, Huan‐Huan Song, Wan‐Jin Chen, Ying Fu   +6 more
wiley   +1 more source

Explaining cultural emotion in Chinese pop music with multimodal AI: educational and socio-emotional implications. [PDF]

Front Psychol
Shi Q, Zhou Y.
europepmc   +1 more source

scHilda: Hierarchical Integration of LLM with KG database for single cell type annotation. [PDF]

PLoS Comput Biol
Li Y, Sun Y, Geng A, Xu J, Meng Y, Cui F, Wei L, Zou Q, Li X, Zhang Z.   +9 more
europepmc   +1 more source

eDEM-CONNECT: agitation ontology for the intelligent support of informal caregivers of people with dementia. [PDF]

Front Aging
Suravee S, Pinkert C, Hochgraeber I, Halek M, Holle B, Yordanova K.   +5 more
europepmc   +1 more source