Results 31 to 40 of about 1,085 (157)

Clinical Impact of NOTCH3 Variant Location After First Stroke in CADASIL

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Despite its monogenic origin, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy exhibits marked variability in clinical expression and severity. Variants in the NOTCH3 gene, within epidermal growth factor‐like repeat domains 1–6 or 7–34, are known to influence disease onset, but their impact ...
Léa Aguilhon, Hugues Chabriat, Dominique Hervé, Stéphanie Guey, Sophie Tezenas Du Montcel, Juliette Ortholand   +5 more
wiley   +1 more source

Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy

Pediatric Neurology, 2018
We attempted to characterize the health-related quality of life in patients with genetically determined leukoencephalopathies as it relates to the severity of clinical features and the presence or absence of a precise molecular diagnosis.Health-related quality of life was assessed using the Pediatric Quality of Life Inventory model (Pediatric Quality ...
Mirchi, Amytice, Pelletier, Félixe, Tran, Luan T, Keller, Stephanie, Braverman, Nancy, Tonduti, Davide, Vanderver, Adeline, Pizzino, Amy, Dilenge, Marie-Emmanuelle, Poulin, Chantal, Shevell, Michael, Majnemer, Annette, Sébire, Guillaume, Srour, Myriam, Osterman, Bradley, Boucher, Renée-Myriam, Vanasse, Michel, Rossignol, Elsa, Mitchell, John, Venkateswaran, Sunita, Pohl, Daniela, Kauffman, Marcelo, Schiffmann, Raphael, Goizet, Cyril, Moutton, Sebastien, Roncarolo, Federico, Bernard, Geneviève   +26 more
openaire   +3 more sources

Mr BMT Achieves Systemic Macrophage Replacement With Preservation of Tissue Homeostasis

Advanced Science, EarlyView.
Microglia replacement by bone marrow transplantation (Mr BMT) enables systemic replacement of tissue‐resident macrophages. Despite persistent macrophage and tissue remodeling across multiple organs, core biological functions and innate immune responses remain preserved, supporting long‐term maintenance of organismal homeostasis and the therapeutic ...
Yufei Xu, Miaozhan Zou, Yunshang Bai, Yang He, Zhihao Jin, Baozhi Yang, Jinjin Du, Pei Ouyang, Yuanyuan Cai, Yuheng Zhang, Bingying Du, Chengcheng Ge, Jian‐an Gong, Xiaoyu Li, Yuanyi Zheng, Jing Ding, Bo Peng, Yanxia Rao   +17 more
wiley   +1 more source

A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects.

PLoS Genetics, 2016
Genetic leukoencephalopathies (gLEs) are a group of heterogeneous disorders with white matter abnormalities affecting the central nervous system (CNS). The causative mutation in ~50% of gLEs is unknown.
Jinglan Zhang, Véronik Lachance, Adam Schaffner, Xianting Li, Anastasia Fedick, Lauren E Kaye, Jun Liao, Jill Rosenfeld, Naomi Yachelevich, Mary-Lynn Chu, Wendy G Mitchell, Richard G Boles, Ellen Moran, Mari Tokita, Elizabeth Gorman, Kaytee Bagley, Wei Zhang, Fan Xia, Magalie Leduc, Yaping Yang, Christine Eng, Lee-Jun Wong, Raphael Schiffmann, George A Diaz, Ruth Kornreich, Ryan Thummel, Melissa Wasserstein, Zhenyu Yue, Lisa Edelmann   +28 more
doaj   +1 more source

From Interferon Signature to the Clinical Landscape: Type I Interferonopathies

Arthritis &Rheumatology, EarlyView.
Objective TypeI interferonopathies are heterogeneous diseases driven by dysregulated type I interferon (IFN‐I) signaling. Diagnosis is challenging due to clinical/molecular variability and the need for IFN‐I quantification. The aim of this study was to characterize the clinical, immunologic, genetic, molecular profiles of patients with suspected ...
Ismail Yaz, Seza Ozen, Hacer Neslihan Bildik, Canberk Ipsir, Dilara Unal, Saliha Esenboga, Begum Cicek, Mehmet Emin Seker, Fatima Aerts‐Kaya, Seher Sener, Mehmet Orhan Erkan, Hanife Avci, Deniz Cagdas, Ilhan Tezcan   +13 more
wiley   +1 more source

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

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

Genetic and metabolic diagnostic profile of children presented with spastic paraplegia/diplegia

Brain Disorders
Background: Spastic paraplegia/diplegia in children may be an early manifestation of underlying neurogenetic disorders which are often underdiagnosed in clinical practice.
Nebal Waill Saadi, Basma Adel Ibrahim, Qusay Abed Fahad, Henry Houlden, Rahema Mohammad, Mina Zamani, Adel A. Kareem, Ali Kadhim Al-Husseinawi, Hayder Kadhim Jabbar, Saif Hamed Farhan, Omar A.Thu Noon, Mays Al-Tai   +11 more
doaj   +1 more source