Inborn errors of immunity in children with neuroinflammation
Abstract Inborn errors of immunity (IEIs), an expanding group of monogenic disorders with diverse clinical manifestations, are increasingly recognized to include neuroinflammatory disease. Examples of diseases included under this umbrella are Aicardi–Goutières syndrome, deficiency of adenosine deaminase 2, familial haemophagocytic lymphohistiocytosis ...
Eppie M Yiu +5 more
wiley +1 more source
From insights to innovations: evaluating preclinical paradigms in demyelinating disease therapeutics. [PDF]
Karbalaee M +4 more
europepmc +1 more source
Misdiagnosis of Susac syndrome as demyelinating disease and primary angiitis of the central nervous system: A case report. [PDF]
Wu G, Jiang W, Li Z, Huang D, Wu L.
europepmc +1 more source
Abstract Aim To identify the outcomes reported in published studies of intervention approaches used with non‐degenerative childhood hyperkinetic movement disorders, including dystonia, dyskinesia, hypertonia, athetosis, chorea, cerebral palsy, involuntary movement, and kernicterus, and map them to the International Classification of Functioning ...
Hortensia Gimeno +10 more
wiley +1 more source
Acute effects of high-dose corticosteroids on serum biomarker profiles in primary CNS demyelinating disease: A pilot study. [PDF]
Chumakova AP, Demetriou M, Sy M.
europepmc +1 more source
Congestive myelopathy due to spinal dural arteriovenous fistula mimicking CNS demyelinating disease. [PDF]
Kim N, Kim H, Kim H, Park J.
europepmc +1 more source
Genetic testing in paediatric neurological disorders
In this study 390 paediatric patients with neurological disorders underwent genetic testing via exome sequencing, commercial panel, in‐house epilepsy, and movement disorder gene panels. Exome sequencing provides the highest diagnostic yield, and severe developmental delay and hypotonia predicted pathogenic variants in the exome sequencing cohort ...
Wafa Bani Uraba +15 more
wiley +1 more source
Baricitinib triggering a central nervous system inflammatory-demyelinating disease: A case report. [PDF]
Khalili R +3 more
europepmc +1 more source
Prevalence and Disability of Peripheral Neuropathy in Patients With Waldenström's Macroglobulinemia
ABSTRACT Objectives Peripheral neuropathy (PN) is considered a frequent complication of Waldenström's macroglobulinemia (WM). Establishing a causal relationship between PN and WM is complicated by confounding factors such as age‐related axonal loss and diabetes. This scoping review aims to summarize the current evidence on WM‐associated PN with a focus
Morten Müller Aagaard +6 more
wiley +1 more source
Demyelinating Disease of the Central Nervous System Concurrent With COVID-19. [PDF]
Karsidag S +4 more
europepmc +1 more source

