Autoimmune Comorbidities as Modifiers of Phenotypic Heterogeneity in Facioscapulohumeral Dystrophy
ABSTRACT Objective Facioscapulohumeral dystrophy type 1 (FSHD1) shows clinical heterogeneity that is only partly explained by D4Z4 repeat unit (RU) size. Although immune and inflammatory mechanisms may contribute to disease variability, the prevalence and clinical impact of autoimmune diseases in FSHD remain unclear.
Jonathan Pini +9 more
wiley +1 more source
AI-Driven Workflow for Automated Colorimetric Isothermal Amplification for Robust Pathogen Detection on Portable Devices. [PDF]
Xu K +15 more
europepmc +1 more source
Subjective Cognitive Concerns and Cognitive Trajectories in Parkinson's Disease: Biomarker Impact
ABSTRACT Objective To examine the relationship of subjective cognitive concerns (SCC) with biomarkers of Alzheimer's disease (AD), neurodegeneration, and Parkinson's disease (PD) and domain‐specific cognitive trajectories among cognitively unimpaired persons with de novo PD. Method Cognitively unimpaired participants with SCC (n = 294) and without SCC (
Francesca V. Lopez +5 more
wiley +1 more source
Metagenomic next-generation sequencing in tuberculous periprosthetic joint infection: pathogen-detection yield and clinical characteristics compared with common bacterial PJI. [PDF]
Li J +9 more
europepmc +1 more source
Generalized Dystonia With Cervical Predominance in a Patient With a De Novo TCF20 Variant
ABSTRACT TCF20 has been implicated in developmental delay and intellectual disability, with dystonia reported less frequently. We describe a woman in her early twenties with childhood‐onset learning difficulties, progressive dysarthria, tremor, and generalized dystonia with marked cervical predominance, associated with a de novo TCF20 frameshift ...
Melisa Kilic +7 more
wiley +1 more source
Carbohydrate-based biosensors for enhanced pathogen detection. [PDF]
Elgiddawy N, Azzazy HME.
europepmc +1 more source
ABSTRACT Objective Autoimmune glial fibrillary acidic protein astrocytopathy (GFAP‐A) is an inflammatory central nervous system disorder with variable outcomes. Relapse occurs in a subset of patients, but early predictors remain unclear. We aimed to identify admission‐available features associated with 1‐year recurrence and develop an interpretable ...
Qingting Hong +10 more
wiley +1 more source
Changes in Microbial Foodborne Pathogen Detection in Beijing, China, Before and After the COVID-19 Pandemic: Single-Center Retrospective Study. [PDF]
Liang C, Tan L, Zhang H.
europepmc +1 more source

