Results 91 to 100 of about 348,753 (249)

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 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

Diffusion‐Weighted Imaging for the Evaluation of the Sacroiliac Joint in Pediatric Patients

Arthritis Care &Research, EarlyView.
Objective Maturational signal in the sacroiliac joint (SIJ) of skeletally immature youth is often misinterpreted as inflammation. Diagnostic tools that improve specificity are greatly needed. Apparent diffusion coefficient (ADC) values from diffusion‐weighted imaging (DWI), when used with standard imaging, may enhance diagnostic accuracy.
Michael L. Francavilla, Timothy G. Brandon, Dmitry Khrichenko, Rui Xiao, Nancy A. Chauvin, Asef Khwaja, Pamela F. Weiss   +6 more
wiley   +1 more source

Influence of Absorber Contents and Temperatures on the Dielectric Properties and Microwave Absorbing Performances of C@TiC/SiO₂ Composites

Nanomaterials
TiC provides a promising potential for high-temperature microwave absorbers due to its unique combination of thermal stability, high electrical conductivity, and robust structural integrity.
Yan Wang, Xin Sun, Zhihe Xiao, Jian Gu, Qinyi Dong, Shuhang Yi, Junyang Jin   +6 more
doaj   +1 more source

Reinforced Inverse Scattering

SIAM Journal on Scientific Computing
Inverse wave scattering aims at determining the properties of an object using data on how the object scatters incoming waves. In order to collect information, sensors are put in different locations to send and receive waves from each other. The choice of sensor positions and incident wave frequencies determines the reconstruction quality of scatterer ...
Hanyang Jiang, Yuehaw Khoo, Haizhao Yang
openaire   +3 more sources

Immune Checkpoint Inhibitor–Related Myositis and Associated Triad Overlap Syndrome

Arthritis Care &Research, EarlyView.
Objective Immune checkpoint inhibitor (ICI) myositis is a rare but a highly morbid condition, particularly with the ICI myositis triad syndrome of myositis, myocarditis, and myasthenia gravis. We report the clinical characteristics of ICI myositis and all‐cause mortality in these patients.
Selene Rubino, Grant W. Cannon, Brian C. Sauer, Jorge Rojas, Gregory J. Stoddard, Gary A. Kunkel, Jessica A. Walsh, Bryant R. England, Joshua F. Baker, Tawnie J. Braaten   +9 more
wiley   +1 more source

A Portable Miniature Cryogenic Environment for In Situ Neutron Diffraction

Crystals
Neutron diffraction instruments offer a platform for materials science and engineering studies at extended temperature ranges far from ambient. As one of the widely used neutron sample environment types, cryogenic furnaces are usually bulky and complex ...
Yan Chen, Dunji Yu, Ke An
doaj   +1 more source

Enhancing Corrosion Resistance and Mechanical Strength of 3D‐Printed Iron Polylactic Acid for Marine Applications via Laser Surface Texturing

Advanced Engineering Materials, EarlyView.
Laser surface texturing significantly improves the corrosion resistance and mechanical strength of 3D‐printed iron polylactic acid (Ir‐PLA) for marine applications. Optimal laser parameters reduce corrosion by 80% and enhance tensile strength by 25% and ductility by 15%.
Mohammad Rezayat, Mojtaba Karamimoghadam, Mohammadreza Lalegani Dezaki, Ali Zolfagharian, Giuseppe Casalino, Antonio Mateo, Mahdi Bodaghi   +6 more
wiley   +1 more source

Evaluation of the Potential of Laser Shock Peening Compared with Cold Expansion for Improving Fatigue Resistance of Riveted Lap Joints of Aerospace Grade 7175 Al Alloy

Advanced Engineering Materials, EarlyView.
This study investigates laser shock peening for enhancing fatigue performance of riveted aerospace aluminum joints. A comparative approach with cold expansion combines fatigue testing and synchrotron X‐ray methods. Integrating mechanical testing with residual stress and strain characterization provides insights into how different treatments affect the ...
Ogün Baris Tapar, David Osman Busse, Maximilian Sprengel, Domenico Furfari, Marc‐André Nielsen, Guilherme Abreu Faria, Jérémy Epp   +6 more
wiley   +1 more source

What Is the Limit of Quantification for the Minor Phase in Time-of-Flight Neutron Diffraction? A Case Study on Fe and Ni Powder Mixtures at VULCAN

Crystals
A phase present in small quantities within materials may not simply serve as a secondary component; it can play a crucial role in determining the integrity, properties, and performance of the material.
Yan Chen, Dunji Yu, Ke An
doaj   +1 more source