ABSTRACT Objective CDKL5 deficiency disorder (CDD) is a rare, severe developmental and epileptic encephalopathy. There is a pressing need to develop effective and sustainable therapeutic strategies. We aimed to investigate the causal association between febrile episodes and epileptic seizures for therapeutic implications in CDD patients.
Siyi Wang +13 more
wiley +1 more source
Changes in Immune‐Inflammation Status and Prognosis in Pregnancy‐Related Cerebral Venous Thrombosis
ABSTRACT Objective Distinguishing pathological changes from physiological adaptations in pregnancy‐related cerebral venous thrombosis (CVT) is clinically challenging. This study aimed to characterize coagulation, immune‐inflammation, and dehydration status in these patients and assess their prognostic value.
Xiaoming Zhang +7 more
wiley +1 more source
Effectiveness of baloxavir marboxil in nonhuman primates infected with highly pathogenic avian influenza A(H7N9) virus. [PDF]
Iwatsuki-Horimoto K +8 more
europepmc +1 more source
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
Isolation of Highly Pathogenic Avian Influenza A(H5N1) Virus from Fetal Bovine Serum, United States, 2025. [PDF]
Rebelo AR +10 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
Polymerase trapping as the mechanism of H5 highly pathogenic avian influenza virus genesis. [PDF]
Funk M +11 more
europepmc +1 more source
Investigation of Complement Activation and Cytokine Signatures in AQP4+ NMOSD, MOGAD, and MS
ABSTRACT Objective Aquaporin‐4‐IgG seropositive neuromyelitis optica spectrum disorder (AQP4+ NMOSD), myelin oligodendrocyte glycoprotein antibody‐associated disease (MOGAD), and multiple sclerosis (MS) are pathophysiologically distinct neuroinflammatory disorders. Complement activation is a major mechanism of injury in AQP4+ NMOSD, whereas its role in
Angeliki G. Filippatou +23 more
wiley +1 more source
Stage‐Specific Patterns of Imaging and Non‐Motor Biomarkers in Spinocerebellar Ataxia Type 3
ABSTRACT Objective Advancements in disease‐modifying therapies for spinocerebellar ataxia Type 3 (SCA3) underscore the need for robust biomarkers to monitor disease progression and evaluate treatment efficacy. Although motor phenotypes have been well characterized, less is known about non‐motor and imaging‐based features across different disease stages.
Chun Li +17 more
wiley +1 more source

