Results 71 to 80 of about 43,456 (236)

Spike detection in the wild: Screening of suspected temporal lobe epilepsy cases using a tailored 2‐channel wearable EEG

open access: yesEpilepsia Open, EarlyView.
Abstract Objective To clinically validate the contribution of a custom‐built EEG wearable device (waEEG) compared to a full 10–20 electrode array ambulatory EEG (aEEG) for screening epilepsy cases in patients with suspected temporal lobe epilepsy (TLE) but negative routine EEGs. Methods Patients (aged 16–91 years) with clinically suspected TLE who were
Daniel Filipe Borges   +4 more
wiley   +1 more source

Sudden bilateral loss of vision in a 19-year-old man [PDF]

open access: yes, 2015
Introduction: Posterior Reversible Leukoencephalopathy Syndrome (PRES) is caused by ischaemia commonly affecting the posterior cerebral vasculature. It presents with sudden decreased vision, headaches, nausea, vomiting, seizures, and altered mental ...
Cauchi, David   +4 more
core  

Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency [PDF]

open access: yes, 2018
Background: The first subjects with deficiency of mitochondrial tryptophanyl-tRNA synthetase (WARS2) were reported in 2017. Their clinical characteristics can be subdivided into three phenotypes (neonatal phenotype, severe infantile onset phenotype ...
De Bruyne, Ruth   +9 more
core   +1 more source

Phenotype and surgical management of drug‐resistant epilepsy in patients with COL4A1 and COL4A2 variants

open access: yesEpilepsia Open, EarlyView.
Abstract Objective To summarize the clinical features of collagen type IV alpha 1/2 chain (COL4A)1/2‐related epilepsy and the seizure outcomes of patients undergoing epilepsy surgery. Methods We retrospectively analyzed the clinical, electroencephalography, and neuroimaging data; genetic characteristics; surgical details; and prognosis of 8 patients (4
Jie Shi   +12 more
wiley   +1 more source

Brain abscess following rituximab infusion in a patient with pemphigus vulgaris. [PDF]

open access: yes, 2015
BackgroundImmunocompromised patients are at increased risk for developing meningitis or, rarely, brain abscess with opportunistic organisms like Listeria monocytogenes.Case reportA 52 year-old Saudi Arabian woman who was diagnosed with pemphigus vulgaris
Al-Harbi, Talal M   +2 more
core   +2 more sources

Long‐Read Sequencing: The Third Generation of Diagnostic Testing for Dystonia

open access: yesMovement Disorders, EarlyView.
Abstract Long‐read sequencing methodologies provide powerful capacity to identify all types of genomic variations in a single test. Long‐read platforms such as Oxford Nanopore and PacBio have the potential to revolutionize molecular diagnostics by reaching unparalleled accuracies in genetic discovery and long‐range phasing.
Thomas Wirth   +2 more
wiley   +1 more source

Pharmacokinetic Model‐Informed Precision Dosing of Natalizumab in Multiple Sclerosis

open access: yesCPT: Pharmacometrics &Systems Pharmacology, EarlyView.
ABSTRACT Intravenous natalizumab is an effective treatment for relapsing–remitting multiple sclerosis. However, the standard treatment interval of 4 weeks may be excessive for many patients. Personalized interval extension using therapeutic drug monitoring (TDM) can result in adequate drug exposure while reducing hospital visits and healthcare costs ...
Stefan P. H. van den Berg   +9 more
wiley   +1 more source

Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency [PDF]

open access: yes, 2015
Disorders of the mitochondrial energy metabolism are clinically and genetically heterogeneous. An increasingly recognized subgroup is caused by defective mitochondrial iron-sulfur (Fe-S) cluster biosynthesis, with defects in 13 genes being linked to ...
Angela eHagendorff   +26 more
core   +3 more sources

Asymptomatic progressive multifocal leukoencephalopathy: a case report and review of the literature

open access: yesJournal of Medical Case Reports, 2018
Background We report the development of asymptomatic progressive multifocal leukoencephalopathy in a patient with multiple sclerosis on natalizumab therapy.
Yinan Zhang   +2 more
doaj   +1 more source

Magnetic resonance imaging in patients with migraine: the results of unsubstantiated referral

open access: yesАнналы клинической и экспериментальной неврологии, 2020
Introduction.Magnetic resonance imaging (MRI) in patients with migraines often reveals structural brain changes of an unclear aetiology. The effect of these changes on the patients management plan requires further investigation.
Kirill A. Pozhidaev   +1 more
doaj   +1 more source

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