Descrição atualizada da paralisia cerebral
Resumo A paralisia cerebral (PC) é um termo descritivo amplamente utilizado para um espectro de deficiências motoras causadas por lesão ou malformação cerebral não progressiva ocorrida durante as fases iniciais do desenvolvimento. Avanços recentes nas áreas da genética, de pesquisa em inflamação e em neurofisiologia têm refinado a compreensão ...
Bernard Dan +5 more
wiley +1 more source
Hand knob sign in osmotic demyelinating syndrome
Background Osmotic demyelinating syndrome, commonly recognized as a consequence of the rapid correction of hyponatremia, has been known to cause motor, neuropsychiatric, or extrapyramidal symptoms.
Pasin Hemachudha +4 more
core +1 more source
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
Isolated trigeminal neuropathy as an initial manifestation of chronic inflammatory demyelinating polyradiculoneuropathy: A case report. [PDF]
El-Khasawneh A +4 more
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
Astrocytic PDE7B Drives Blood-Brain Barrier Breakdown via Extracellular Vesicles in Demyelinating Disease. [PDF]
Duan J +7 more
europepmc +1 more source
Characterizing Combined Central and Peripheral Demyelination-Insights From a Multimodal Comparison With Chronic Inflammatory Demyelinating Polyneuropathy and Multiple Sclerosis. [PDF]
ABSTRACT Introduction/Aims Combined central and peripheral demyelination (CCPD) is a rare dysimmune disorder sharing features with multiple sclerosis (MS) and chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). Direct comparisons of central and peripheral diagnostic findings across these entities remain limited. We, therefore, performed a
Dubuisson N +6 more
europepmc +2 more sources
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
Multiple sclerosis as an under-recognized cause of acute vertigo: clinical and pathophysiologic insights. [PDF]
Anagnostou E, Kouvli M.
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

