Results 41 to 50 of about 1,799 (195)

Evaluating discrepancies between high‐yield neuroscience conditions in preclerkship medical education and national clinical incidence

Anatomical Sciences Education, EarlyView.
Abstract Medical education must balance foundational science with clinical relevance. Increasing emphasis on standardized assessments has led to prioritization of “high‐yield” conditions—those most likely to be assessed. Subsequently, educators and students often prioritize these conditions.
Kathryn Veazey, Oheneba Boadum
wiley   +1 more source

Early‐stage health technology assessment of a curative gene therapy for multiple sclerosis

British Journal of Clinical Pharmacology, EarlyView.
Aims Multiple sclerosis (MS) is associated with significant early morbidity, reduced life expectancy and substantial healthcare and societal costs. The primary objective of this study is to assess the early cost‐effectiveness potential of a novel gene therapy, IMMUTOL, for MS compared with current high‐efficacy treatment sequences.
Attila Imre, Balázs Nagy, Rok Hren
wiley   +1 more source

Adult-onset adrenoleukodystrophy presenting as a psychiatric disorder: MRI findings

Dementia & Neuropsychologia
A 35-year-old, previously healthy man presented psychiatric symptoms lasting four years, receiving treatment with neuroleptics. One year later he evolved with gait disequilibrium.
Antonio Cézar Ribeiro Galvão, Gislaine Cristina Lopes Machado-Porto, Fábio Henrique de Gobbi Porto, Leandro Tavares Lucato, Ricardo Nitrini   +4 more
doaj   +1 more source

ACER3-related leukoencephalopathy: expanding the clinical and imaging findings spectrum due to novel variants

Human Genomics, 2021
Background Leukodystrophies are the main subgroup of inherited CNS white matter disorders which cause significant mortality and morbidity in early years of life.
Ali Zare Dehnavi, Erfan Heidari, Maryam Rasulinezhad, Morteza Heidari, Mahmoud Reza Ashrafi, Mohammad Mahdi Hosseini, Fatemeh Sadeghzadeh, Mohammad-Sadegh Fallah, Noushin Rostampour, Amir Bahraini, Masoud Garshasbi, Ali Reza Tavasoli   +11 more
doaj   +1 more source

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

Epilepsia 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, Joana Isabel Soares, Daniela Dias, Helena Cordeiro, Alberto Leal   +4 more
wiley   +1 more source

Febrile status epilepticus and epileptogenesis: The FEBSTAT study

Epilepsia Open, EarlyView.
Abstract The multicenter FEBSTAT study (Consequences of Prolonged Febrile Seizures in Childhood: https://grantome.com/grant/NIH/R37‐NS043209‐12; PI S. Shinnar) examined the outcome of febrile status epilepticus (FSE) in over 200 prospectively enrolled infants, with many followed for 10 years after FSE.
Darrell V. Lewis, Douglas R. Nordli Jr., Douglas R. Nordli III, Shlomo Shinnar, Stephen Chan, Jacqueline A. Bello, L. Matthew Frank, James Voyvodic, William Gallentine, Syndi Seinfeld, Yoshimi Sogawa, Erica Weiss, David Masur, Yuan Xu, Solomon L. Moshé   +14 more
wiley   +1 more source

Diabetes, leukoencephalopathy and rage

Neurobiology of Disease, 2006
Longstanding diabetes mellitus damages kidney, retina, peripheral nerve and blood vessels, but brain is not usually considered a primary target. We describe direct involvement of the brain, particularly white matter, in long-term (9 months) experimental diabetes of mice, not previously modeled, correlating magnetic resonance (MR) imaging with ...
Toth, C, Schmidt, A, Tuor, U, Francis, G, Foniok, T, Brussee, V, Kaur, J, Yan, S, Martinez, J, Barber, P, Buchan, A, Zochodne, D   +11 more
openaire   +3 more sources

From Uncertainty to Pathogenicity: Resolving a CSF1R Variant of Uncertain Significance Using Long‐Read Transcriptomics

Movement Disorders, EarlyView.
Abstract Background CSF1R‐related disorder (CSF1R‐RD) is a severe autosomal dominant leukoencephalopathy characterized by progressive cognitive, neuropsychiatric, and motor decline. Although genetic testing is widely available, numerous likely pathogenic variants in CSF1R frequently remain classified as variants of uncertain significance (VUS ...
Charles Wade, Kylie Montgomery, Gabriela E. Jones, Peter Sellars, Akram A. Hosseini, Simon Paine, Henry Houlden, Mina Ryten, David S. Lynch   +8 more
wiley   +1 more source

Protective Potentials of Natural Products Against Vascular Dementia: A Comprehensive Review of Experimental Studies

Phytotherapy Research, EarlyView.
ABSTRACT Vascular dementia (VaD), accounting for up to 20% of dementia cases globally, is primarily driven by chronic cerebral hypoperfusion (CCH), which leads to progressive cognitive impairment. Despite the increasing prevalence of VaD, effective treatments remain limited.
Jung‐Hoon Kim, Yongtaek Oh, Suin Cho
wiley   +1 more source

A first CLN6 variant case of late infantile neuronal ceroid lipofuscinosis caused by a homozygous mutation in a boy from China: a case report

BMC Medical Genetics, 2018
Background Neuronal ceroid lipofuscinosis (NCLs) are lysosomal storage disorders characterized by seizures, motor impairment, and loss of vision. Ceroid lipofuscinosis (CLN) gene mutations are the cause, but NCL cases arising from CLN6 mutations have not
Guilian Sun, Fang Yao, Zhuoling Tian, Tianjiao Ma, Zhiliang Yang   +4 more
doaj   +1 more source