Results 111 to 120 of about 99,325 (262)

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

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Recurrent Hypothermia and Autonomic Dysfunction Secondary to Shapiro Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT A 44‐year‐old man presented with recurrent hypothermia, diaphoresis and hypertension. Extensive investigation for infectious, inflammatory, metabolic and endocrine aetiologies was negative. MR scan of the brain demonstrated no lesions but revealed callosal dysgenesis, consistent with Shapiro syndrome.
Naveen Kumar, Jeremy Johnson, Susanne Watkins, Eoin Mulroy   +3 more
wiley   +1 more source

Spatial and Volumetric Characteristics of Glioblastoma: Associations With Clinical Presentation and Survival

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We aim to comprehensively analyze how regional tumor and edema characteristics are associated with clinical presentations and survival outcomes in a large cohort of glioblastoma patients. Methods Patients with IDH‐wildtype glioblastoma who received brain MRI from 2010 to 2023 were included.
Daniel J. Zhou, Marc Jaskir, Julian Gal, Yombe Fonkeu, Christos Davatzikos, MacLean P. Nasrallah, Jose Garcia, Rubo Xing, Stephen J. Bagley, Arati Desai, Richard E. Phillips, Steven Tobochnik, Colin A. Ellis, James J. Gugger, Nishant Sinha, Joel M. Stein, Kathryn A. Davis   +16 more
wiley   +1 more source

Sensitivity analysis of factors influencing the reliability of reinforced concrete columns strengthened with Fabric-Reinforced cementitious matrix

Tạp chí Khoa học và Công nghệ
This paper presents a sensitivity analysis of key factors influencing the reliability of reinforced concrete columns strengthened with Fabric-Reinforced Cementitious Matrix (FRCM) with carbon fabric.
Dang Cong-Thuat, Le Khanh Toan, Pham My, Dinh Ngoc Hieu   +3 more
doaj   +1 more source

Subclinical Optic Nerve Involvement in Radiologically Isolated Syndrome: Multimodal Detection and Diagnostic Impact

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We aimed to determine the frequency of subclinical optic nerve (ON) lesions using MRI, optical coherence tomography (OCT), and visual evoked potentials (VEP) in radiologically isolated syndrome (RIS), and to assess their diagnostic and prognostic significance.
Christine Lebrun‐Frenay, Cassandre Landes‐Château, Lydiane Mondot, Mikael Cohen, Margherita Popolo, Jérôme de Seze, Bertrand Bourre, Françoise Durand‐Dubief, Olivier Casez, Orhun H. Kantarci, Aksel Siva, Stephanie Baillif, Darin T. Okuda, Letizia Leocani   +13 more
wiley   +1 more source

Characteristics of a new UT-type prefabricated joint for rectangular steel tubes under combined axial-moment loading.

PLoS ONE
This study proposes a UT-type prefabricated joint incorporating adjustable sleeves (±5 mm tolerance) and an energy-dissipating segment to address the practical demands for construction tolerance management and plasticity assurance.
Menghan Sun, Luyao He, Zailin Yang
doaj   +1 more source

New Onset of Fibromyalgia After Exposure to a Combat Environment: A Longitudinal Cohort Study

Arthritis Care &Research, EarlyView.
Objective Traumatic life events are hypothesized to be triggers for the onset of fibromyalgia. Posttraumatic stress disorder (PTSD) is a common comorbidity of fibromyalgia. However, limited prospective data are available on the development of fibromyalgia after exposure to high‐magnitude stress.
Jay B. Higgs, Willie J. Hale, Casey L. Straud, Jim Mintz, Stacey Young‐McCaughan, Kimberly D. Gomes, Chelsea J. Sterne, Katrina M. Lawrence‐Wolff, Alan J. Bartholomew, Kevin M. Kelly, Douglas M. Maurer, Catherine Vriend, Brett T. Litz, Douglas E. Williamson, Alan L. Peterson, for the STRONG STAR Consortium   +15 more
wiley   +1 more source

Biopsychosocial Determinants of Hand Function and Its Trajectories Over Five Years in Patients With Hand Osteoarthritis

Arthritis Care &Research, EarlyView.
Objective This study aimed to investigate hand function trajectories over five years in primary hand osteoarthritis (OA). Additionally, determinants of baseline and longitudinal hand function were assessed. Methods A total of 538 patients with both baseline and five‐year study visits were analyzed.
Annemiek V. E. M. Olde Meule, Coen van der Meulen, Jos Runhaar, Frits R. Rosendaal, Margreet Kloppenburg   +4 more
wiley   +1 more source

Discordance Between Patient and Physician Global Assessments in Early Systemic Sclerosis

Arthritis Care &Research, EarlyView.
Objective This study aims to identify factors associated with patient global assessment (PtGA) and physician global assessment (PhGA) and discordance between them in systemic sclerosis (SSc). Methods Data from adults with early SSc (<5 years) from the Collaborative National Quality and Efficacy Registry were included.
Ellen Romich, Alexis Ogdie, Alisa Stephens Shields, Peter A. Merkel, Shervin Assassi, Elana J. Bernstein, Andreea Bujor, Flavia V. Castelino, Lorinda Chung, Luke B. Evnin, Tracy M. Frech, Jessica K. Gordon, Melissa Griffith, Faye N. Hant, Monica L. Harding, Laura K. Hummers, Dinesh Khanna, Kimberly S. Lakin, Dorota J. Lebiedz‐Odrobina, Yiming Luo, Ashima Makol, Maureen D. Mayes, Zsuzsanna H. McMahan, Jerry Molitor, Duncan F. Moore, Julie Paik, Carrie Richardson, Brian Skaug, Ami A. Shah, Ankoor Shah, Virginia Steen, John M. VanBuren, Elizabeth R. Volkmann, Carleigh Zahn, Nora Sandorfi, for the CONQUER Investigators   +35 more
wiley   +1 more source