Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
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 +11 more
wiley +1 more source
Iron EDTA ingestion and toxicosis in 61 dogs: a multicenter retrospective study of Australian hospital records. [PDF]
Luswanto E +3 more
europepmc +1 more source
Comparing Multimorbidity Patterns Among Discharged Middle-Aged and Older Inpatients Between Hong Kong and Zurich: A Hierarchical Agglomerative Clustering Analysis of Routine Hospital Records. [PDF]
Lai FTT +9 more
europepmc +1 more source
Posterior Cortical Atrophy in the Asia‐Pacific: A Report From the PCA Asian Workgroup
ABSTRACT Objective Posterior Cortical Atrophy (PCA) is a distinct dementia syndrome primarily affecting spatial abilities and visual processing. It is associated with degeneration in the posterior part of the brain. PCA is subclassified into PCA‐pure and PCA‐plus syndromes based on consensus criteria.
Yuttachai Likitjaroen +11 more
wiley +1 more source
Phenotyping Neurodisability in Hospital Records in England: A National Birth Cohort Using Linked Administrative Data. [PDF]
Zylbersztejn A +10 more
europepmc +1 more source
Multidimensional Profiling of MRI‐Negative Temporal Lobe Epilepsy Uncovers Distinct Phenotypes
ABSTRACT Objective Although hippocampal sclerosis (TLE‐HS) represents the most frequent cause of temporal lobe epilepsy (TLE), up to 30% of patients show no lesion on visual MRI inspection (TLE‐MRIneg). These cases pose diagnostic and therapeutic challenges and are underrepresented in surgical series.
Alice Ballerini +28 more
wiley +1 more source
Femur fracture: characteristics of patients, treatment outcomes, and factors associated with good outcomes at Gulu Regional Referral Hospital in Uganda. A retrospective review of hospital records of 2022. [PDF]
Okwada I +4 more
europepmc +1 more source
SARS-CoV-2 Susceptibility and COVID-19 Mortality Among Older Adults With Cognitive Impairment: Cross-Sectional Analysis From Hospital Records in a Diverse US Metropolitan Area. [PDF]
Pan AP +7 more
europepmc +1 more source
Hospital Records in the Computer Age [PDF]
openaire +2 more sources
Sex Representation in US Stroke Clinical Trials: A Decade of Trends and Challenges
ABSTRACT Objective Stroke remains a major cause of disability and mortality in the US, with significant sex‐based disparities, and females remain underrepresented in stroke clinical trials. We aimed to examine sex representation in US‐based stroke clinical trials, identify trial characteristics associated with higher female enrollment (≥ 50%), and ...
Chaitali Dagli +5 more
wiley +1 more source

