ABSTRACT Objective The aim of this study was to characterize intellectual and motor function, neurological features including epilepsy, treatment response, and adaptive behavior in patients with pyruvate dehydrogenase complex deficiency (PDCD) in Sweden.
Antri Savvidou +6 more
wiley +1 more source
Winston Churchill’s trouble for healthcare providers [PDF]
Hamed Mortazavi
doaj +1 more source
Tubulointerstitial Nephritis With Uveitis Syndrome: A Case Report and Review of Literature. [PDF]
Alshaiban A.
europepmc +1 more source
Inebilizumab in AQP4‐Seropositive NMOSD: One‐Year Follow‐Up From a Multicenter, Real‐World Study
ABSTRACT Objective Real‐world evidence on inebilizumab among neuromyelitis optica spectrum disorder (NMOSD) patients is lacking. This study assessed inebilizumab among Chinese patients with aquaporin 4 autoantibody (AQP4‐IgG)‐seropositive NMOSD in a real‐world setting.
Mengcui Gui +10 more
wiley +1 more source
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
A 66-Year Old Female with Belly Dancer's Syndrome: A Case Report from a Low-Resource Setting. [PDF]
Mujuni E +5 more
europepmc +1 more source
Diffuse MRI Edema Predicts Relapse in Cerebral Amyloid Angiopathy–Related Inflammation
ABSTRACT Objective To identify MRI predictors of relapse and quantify relapse and mortality risk in cerebral amyloid angiopathy–related inflammation (CAA‐RI). A secondary objective was to assess the association between mycophenolate mofetil use and relapse risk. Methods We performed a retrospective cohort study of 36 patients with CAA‐RI treated at the
G. Abbas Kharal +10 more
wiley +1 more source
Utility of the APE2 Score as a Diagnostic Tool for Autoimmune Encephalitis
ABSTRACT Objective To retrospectively evaluate the diagnostic performance of the Antibody Prevalence in Epilepsy and Encephalopathy (APE2) score relative to clinician‐adjudicated autoimmune encephalitis (AE) and the Graus criteria in a tertiary neuroimmunology referral cohort, including antibody‐negative AE.
Bijoya Basu +3 more
wiley +1 more source
Association between android-to-gynoid lean mass ratio and advanced cardiovascular-kidney-metabolic syndrome, and the cross-sectional association decomposition of estimated glucose disposal rate. [PDF]
Zhang Y +9 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

