Results 61 to 70 of about 63,511 (245)

Fluid and Neuroimaging Biomarkers in Microgliopathy Colony‐Stimulating Factor‐1 Receptor‐Related Disorders

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective This study aims to identify both fluid and neuroimaging biomarkers for CSF1R‐RD that can inform the optimal timing of treatment administration to maximize therapeutic benefit, while also providing sensitive quantitative measurements to monitor disease progression.
Tomasz Chmiela, Madison Reeves, Karen Jansen‐West, Judith Dunmore, Yuping Song, Audrey Strongosky, Sunil Gandhi, Gilana Pikover, Matt Blurton‐Jones, Robert C. Spitale, Erik H. Middlebrooks, Leonard Petrucelli, Mercedes Prudencio, Zbigniew K. Wszolek   +13 more
wiley   +1 more source

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Solidification process of a water droplets freely dropped on a cooled substrate and development of crack initiation and delamination models

Nihon Kikai Gakkai ronbunshu, 2019
The icing phenomenon, which is due to continuous deposition of water droplets or super-cooled droplets, causes serious problems, such as airplane crashes and power line tower collapse, in various fields.
Sota TANIGUCHI, Iori YAMAZAKI, Masayuki ARAI, Kiyohiro ITO   +3 more
doaj   +1 more source

Patterns of Postictal Abnormalities in Relation to Status Epilepticus in Adults

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Abnormalities on peri‐ictal diffusion‐weighted magnetic resonance imaging (DWI‐PMAs) are well‐established for patients with status epilepticus (SE), but knowledge on patterns of DWI‐PMAs and their prognostic impact is sparse. Methods This systematic review and individual participant data meta‐analysis included observational studies ...
Andrea Enerstad Bolle, Silvana Sarria‐Estrada, Thomas Bonduelle, Bertram Daniel Dynesen, Manuel Toledo, Zhu Chung Che, Kjell Heuser, Anastasios Chatzikonstantinou, Jérôme Aupy, Udaya Seneviratne, Estevo Santamarina Perez, Christoph Patrick Beier   +11 more
wiley   +1 more source

Traumatic Microhemorrhages Are Not Synonymous With Axonal Injury

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Diffuse axonal injury (DAI) is caused by acceleration‐deceleration forces during trauma that shear white matter tracts. Susceptibility‐weighted MRI (SWI) identifies microbleeds that are considered the radiologic hallmark of DAI and are used in clinical prognostication.
Karinn Sytsma, Rhonda Mittenzwei, Heather Maioli, Amanda Kirkland, C. Dirk Keene, Ramon Diaz‐Arrastia, Christine Mac Donald, Chiara Maffei, Brian L. Edlow, Amber L. Nolan   +9 more
wiley   +1 more source

Diffusion Spectrum Imaging Maps Early Axonal Loss and a Unique Progressive Signal in Neuronal Intranuclear Inclusion Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To delineate specific in vivo white matter pathology in neuronal intranuclear inclusion disease (NIID) using diffusion spectrum imaging (DSI) and define its clinical relevance. Methods DSI was performed on 42 NIID patients and 38 matched controls.
Kaiyan Jiang, Yixiu Pei, Xiaobao Hu, Ying Xiong, Fang Wang, Yanyan Yu, Min Zhu, Dandan Tan, Meihong Zhou, Daojun Hong, Fuqing Zhou   +10 more
wiley   +1 more source

Evidence of Iron Accumulation in Cerebral Adrenoleukodystrophy: A Potential Novel Disease Mechanism

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT In this first application of Quantitative Susceptibility Mapping Source Separation to cerebral adrenoleukodystrophy, we uncovered alterations in iron and myelin within lesions and normal appearing white matter. As validation, we demonstrate abnormal iron accumulation in those same compartments within primary brain tissue.
Christina L. Nemeth, Mert Sisman, Jinwei Zhang, Hyeong‐geol Shin, Xu Li, Bela Turk, Ali Fatemi, Thanh Nguyen, Eric Mallack   +8 more
wiley   +1 more source

Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce, Goknur Selen Kocak, José Verdú‐Díaz, Jorge Alonso‐Pérez, Kristl G. Claeys, Tanya Stojkovic, Gorka Fernández‐Eulate, Pascal Laforêt, Najoua Miladi, Filipe Di Pace, Cristiane Araujo Martins Moreno, Edmar Zanoteli, Conrad C. Weihl, Volker Straub, Ana Töpf, Jordi Díaz‐Manera, Sarcoglycan European Cohort Consortium, Adele D′Amico, Adolfo López de Munain, Alicia Alonso‐Jiménez, Ana Camacho‐Salas, Andrea Gangfuß, Andrés Nascimento, Anna Sarkozy, Anneke J. van der Kooi, Arturo Fraga‐Bau, Béla Melegh, Benedikt Schoser, Bjarne Udd, Blaz Koritnik, Carlos Ortez, Chiara Marini Bettolo, Chiara Panicucci, Claudia Weiss, Claudio Bruno, Claudio Semplicini, Cristina Dominguez‐González, Cristina Garrido, David Gómez‐Andrés, Edoardo Malfatti, Elena Pegoraro, Elke De Vos, Francina Munell, Gabriele Dekomien, Giacomo Pietro Comi, Giorgio Tasca, Isabelle Richard, Jan L. De Bleecker, Jana Haberlová, Jesper Helbo Storgaard, Johanna Palmio, John Vissing, Juan Carlos de Leon‐Hernández, Kinga Hadzsiev, Laura Costa‐Comellas, Lea Leonardis, Leroy ten Dam, Lidia González‐Quereda, Luca Bello, Luisa Politano, Manuela Santos, Marianne de Visser, Marie Rohlenová, Matteo Garibaldi, Michela Guglieri, Nicolas Deconinck, Nicoline Løkken, Omar Abdel‐Mannan, Pia Gallano, Roberto Fernández‐Torrón, Ulrike Schara‐Schmidt, Vincenzo Nigro, Vittoria Zangaro   +72 more
wiley   +1 more source

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

Realizing the excellent oxidation resistance of an environmental barrier coating through aluminum surface modification

Journal of Advanced Ceramics
The lifetime of Si-based environmental barrier coatings (EBCs) is constrained by thermally grown SiO2 oxide layer (SiO2-TGO), which can cause premature cracking and spalling.
Lin Dong, Wen-Qi Yang, Lin Chen, Guan-Jun Yang, Chang-Jiu Li   +4 more
doaj   +1 more source