Results 41 to 50 of about 278,920 (305)

Therapeutic outcome of patients with Lennox–Gastaut syndrome with mitochondrial respiratory chain complex I deficiency

Frontiers in Neurology
BackgroundLennox–Gastaut syndrome (LGS), a severe developmental epileptic encephalopathy, has various underlying causes. Mitochondrial respiratory chain complex I (MRC I) deficiency is an important cause of metabolic disorders such as mitochondrial ...
Ji-Hoon Na, Young-Mock Lee
doaj   +1 more source

USP29‐regulated noncanonical stabilization of the hypoxia‐inducible factor‐α in aggressive prostate cancer

Molecular Oncology, EarlyView.
We identify USP29 as the only DUB mirroring CA9 expression, a marker of hypoxia and HIF pathway activation associated with PCA aggressiveness. USP29 stabilizes HIF‐1α and HIF‐2α via a noncanonical mechanism that is independent of PHD/pVHL activity yet relies on proteasomal regulation, establishing USP29 as a previously unrecognized regulator of hypoxic
Amelie S Schober, Leire Moreno‐Cugnon, Laura Martínez‐Pérez, Amaia Ercilla, Amaia Zabala‐Letona, Adrián Vicente‐Barrueco, Maider Fagoaga‐Eugui, Saioa Garcia‐Longarte, Blanca Calle‐Ciborro, Encarnación Pérez‐Andrés, Onintza Carlevaris, Sara Pozo, Isabel Mendizabal, Ugo Mayor, Arkaitz Carracedo, Violaine Sée, Edurne Berra   +16 more
wiley   +1 more source

Remote Assessment of Ataxia Severity in SCA3 Across Multiple Centers and Time Points

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinocerebellar ataxia type 3 (SCA3) is a genetically defined ataxia. The Scale for Assessment and Rating of Ataxia (SARA) is a clinician‐reported outcome that measures ataxia severity at a single time point. In its standard application, SARA fails to capture short‐term fluctuations, limiting its sensitivity in trials.
Marcus Grobe‐Einsler, Vivian Maas, Arian Taheri Amin, Jennifer Faber, Tamara Schaprian, Katharina Hill, Matthis Synofzik, Lisa H. Graf, Heike Jacobi, Manuela Lima, Ana F. Ferreira, Bart P. van de Warrenburg, Ilse H. J. Willemse, Dagmar Timmann, Andreas Thieme, Paola Giunti, Hector Garcia‐Moreno, Magda M. Santana, Jeannette Hübener‐Schmid, Elin H. Davies, Thomas Klockgether   +20 more
wiley   +1 more source

Fiabilidad y validez de la escala MRC de 4 puntos para el diagnóstico de debilidad adquirida en la unidad de cuidados intensivos: estudio prospectivo

Argentinian Journal of Respiratory and Physical Therapy
Objetivo: Determinar la fiabilidad y validez de la nueva escala de 4 puntos del Consejo de Investigación Médica (MRC-4), en comparación con la escala tradicional de 6 puntos (MRC-6) y la dinamometría de fuerza de prensión manual (HGD, por sus siglas en ...
Joaquín Martinez Guarnieri, Martín Gutiérrez Clas, María Florencia Bilbao, Constanza Milagros Verteramo, Franco Tedesco, Dolores Maturo, Brandon Asem, Mariana Alejandra Caratti, Diego Rafael Garcia Rosello, Ariel Pattone, Florencia Romina Pintos, Malena Grassino, Cristian Alfredo Colinas, Julieta Ormazabal   +13 more
doaj   +1 more source

Using 4+ to grade near-normal muscle strength does not improve agreement

Chiropractic & Manual Therapies, 2017
Background Manual assessment of muscle strength is often graded using the ordinal Medical Research Council (MRC) scale. The scale has a number of inherent weaknesses, including poorly defined limits between grades ‘4’ and ‘5’ and very large differences ...
Søren O’Neill, Sofie Louise Thomsen Jaszczak, Anne Katrine Søndergaard Steffensen, Birgit Debrabant   +3 more
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Clinical Validation of Plasma p‐217tau in Neurological Diseases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Plasma p‐217tau is a minimally invasive but specific biomarker for diagnosing Alzheimer's disease (AD). However, its disease specificity remains to be clinically evaluated. We validated the reliability of the p‐217tau biomarker in 12 other neurological diseases.
Takeshi Kawarabayashi, Takumi Nakamura, Ryoma Takahashi, Tetsuya Ueda, Seiji Kinoshita, Chikage Uchida, Takashi Sugawara, Kentaro Hashimoto, Kunihiko Ishizawa, Masakuni Amari, Hiroo Kasahara, Yoshio Ikeda, Masamitsu Takatama, Mikio Shoji   +13 more
wiley   +1 more source

R-Trans: RNN Transformer Network for Chinese Machine Reading Comprehension

IEEE Access, 2019
Machine reading comprehension (MRC) has gained increasingly wide attention over the past few years. A variety of benchmark datasets have been released, which triggers the development of quite a few MRC approaches based on deep learning techniques ...
Shanshan Liu, Sheng Zhang, Xin Zhang, Hui Wang   +3 more
doaj   +1 more source

Distrés psicológico, miedo a la recurrencia del cáncer y calidad de vida relacionada con la salud en sobrevivientes de cáncer de mama venezolanas

Psicooncologia, 2020
Objetivo: El objetivo de la investigación fue determinar las relaciones entre el distrés psicológico, el miedo a la recurrencia del Cáncer (MRC) y la calidad de vida relacionada con la salud (CDVRS) en pacientes sobrevivientes de cáncer de mama ...
José Javier Altuve Burgos
doaj   +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

Efficient Machine Reading Comprehension for Health Care Applications: Algorithm Development and Validation of a Context Extraction Approach

JMIR Formative Research
BackgroundExtractive methods for machine reading comprehension (MRC) tasks have achieved comparable or better accuracy than human performance on benchmark data sets.
Duy-Anh Nguyen, Minyi Li, Gavin Lambert, Ryszard Kowalczyk, Rachael McDonald, Quoc Bao Vo   +5 more
doaj   +1 more source