Results 51 to 60 of about 24,301 (201)

Progressive cavitating leukoencephalopathy associated with a homozygous POLG mutation of 264C>G (p.F88L)

Radiology Case Reports, 2020
Progressive cavitating leukoencephalopathy is a childhood neurodegenerative syndrome characterized by brain MR imaging findings of patchy leukoencephalopathy with cavities and vascular permeability, initially affecting the corpus callosum and centrum ...
Austin Shinagawa, BS, Stephen Hugdal, MD, Jay Babu, Rajesh Rangaswamy, MD   +3 more
doaj   +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

Non‐Syndromic Tumefactive Demyelinating Lesions in the Pediatric Population: Four Case Reports and Review of the Literature

Annals of the Child Neurology Society
Introduction Tumefactive demyelinating lesions (TDLs) are large lesions (> 2 cm) seen in demyelinating syndromes such as multiple sclerosis, myelin oligodendrocyte glycoprotein antibody‐associated disorder, and neuromyelitis optica spectrum disorder ...
Elizabeth C. Ballinger, Hannah F. Todd, Jonathan M. Yarimi, Timothy E. Lotze, Nikita M. Shukla, Kristen S. Fisher, Alexander J. Sandweiss   +6 more
doaj   +1 more source

Orofacial Drinking Tremor: A Case Series and Literature Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Task‐specific orofacial tremor is a rare condition in which rhythmic oscillations of orofacial muscles occur during specific actions. Drinking tremor represents a recurrent pattern in isolated reports, although its phenomenology and underlying mechanisms remain incompletely defined.
Daniele Birreci, Luca Angelini, Simone Aloisio, Anna S. Grandolfo, Sara Cirinei, Adriana Martini, Martina De Riggi, Matteo Bologna   +7 more
wiley   +1 more source

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

Real‐World Safety and Effectiveness of Glatiramer Acetate in Patients With Multiple Sclerosis: Final Results of Post‐Marketing Surveillance in Japan

Neurology and Clinical Neuroscience, EarlyView.
ABSTRACT Background Glatiramer acetate is an injectable disease‐modifying therapy indicated for multiple sclerosis (MS). Aim To evaluate the real‐world safety and effectiveness of glatiramer acetate for MS in Japan. Methods A prospective, multicenter, observational, all‐case post‐marketing survey was conducted in Japan between November 2015 and March ...
Masaaki Niino, Eriko Hayashi, Mai Itani, Jun‐ichi Kira   +3 more
wiley   +1 more source

Distinct patterns of white matter hyperintensity and cortical thickness of CSF1R-related leukoencephalopathy compared with subcortical ischemic vascular dementia.

PLoS ONE
BackgroundCSF1R-related leukoencephalopathy is a type of autosomal dominant leukodystrophy caused by mutations in the colony stimulating factor 1 receptor (CSF1R) gene.
Seung Joo Kim, Wanzee Cho, Hee Jin Kim, Duk L Na, Sang Won Seo, Na-Yeon Jung, Jae-Hyeok Lee, Myung Jun Lee, Heeyoung Kang, Joon-Kyung Seong, Eun-Joo Kim   +10 more
doaj   +1 more source

Infection risk in rheumatoid arthritis patients treated with biologic and targeted therapies

Rheumatology &Autoimmunity, EarlyView.
In this context, infections associated with each biologic and targeted drug are summarized to inform the stratification of RA patients, including the characteristics of the susceptible patients and their concomitant therapy. We aim to provide a benefit‐risk analysis for clinical decision, and vital indications for the prevention of highly correlated ...
Lujing Wang, Jieshi Lin, Jie Qian
wiley   +1 more source

Prenatal exome sequencing of fetuses with central nervous system anomalies based on prenatal ultrasound and magnetic resonance imaging diagnosis: A retrospective cohort study with a systematic review and meta‐analysis

Acta Obstetricia et Gynecologica Scandinavica, EarlyView.
Prenatal exome sequencing significantly improves diagnostic yield over chromosomal microarray analysis for fetal CNS abnormalities, with a diagnostic yield of 16% in our cohort and 27% in the meta‐analysis. Diagnostic yields vary across different phenotypes. Abstract Introduction Fetal central nervous system (CNS) abnormalities have diverse etiologies,
Jia Yao, Yan Wang, Gang Li, Zhitao Zhang, Yuan Lv, Lizhu Chen   +5 more
wiley   +1 more source

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

Journal 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, Crystal Wright, Angela Flores   +2 more
doaj   +1 more source