A Language‐Guided Multimodal Foundation Model for Zero‐Shot and Multi‐Task Brain Signal Analysis
Advanced Intelligent Systems, EarlyView.METIS aligns brain signals with natural‐language instructions to enable zero‐shot and multi‐task brain signal analysis. Pretrained on over 70 000 h of EEG and iEEG recordings, it generalizes across sleep stage classification, epilepsy detection, and neurological disorder diagnosis, providing a scalable foundation model for clinically meaningful brain ...
Mingzhi Chen +3 more
wiley +1 more source
Suspected cumulative neuro-ophthalmic toxicity after chronic oral exposure to the veterinary anesthetic tiletamine: a case report. [PDF]
Front Vet SciJiang L, Jiang X, Xu R, Yang W, Tong Y.
europepmc +1 more source
POEMS Syndrome: 2026 Update on Diagnosis, Risk‐Stratification, and Management
American Journal of Hematology, EarlyView.ABSTRACT Disease Overview POEMS syndrome is a life‐threatening syndrome due to an underlying plasma cell neoplasm. The major criteria for the syndrome are polyneuropathy, clonal plasma cell disorder (PCD), sclerotic bone lesions, elevated vascular endothelial growth factor, and the presence of Castleman disease.
Angela Dispenzieri
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli +11 more
wiley +1 more source
Eye movement abnormalities in autism spectrum disorder and prodromal psychosis: a review of overlaps and biomarkers. [PDF]
Front Child Adolesc PsychiatryTerman E, Sanilevich L, Zaballos C.
europepmc +1 more source
Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley +1 more source
Severe Macular Commotio Retinae Following a Fall from a Horse in a Pediatric Patient. [PDF]
Pediatr RepWójcik-Niklewska B +3 more
europepmc +1 more source
Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy +16 more
wiley +1 more source
Case Report: Identification of a <i>CRYGD</i> variant in a family with congenital cataract. [PDF]
Front Med (Lausanne)Deng J +7 more
europepmc +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo +3 more
wiley +1 more source