Results 61 to 70 of about 62,723 (289)

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

Aportes de las intervenciones educativas en el manejo del Síndrome Visual Informático: una revisión de literatura

Ciencia y Cuidado
Objetivo: Identificar intervenciones de educación para la salud que hayan demostrado mejoras en la salud visual y ocular de trabajadores usuarios de computadoras con Síndrome de Visión por Computador.
Diana Carolina Silva-Sánchez, Wilson Giovanni Jiménez-Barbosa, Ivonne Constanza Valero-Pacheco, Natalia Eugenia Gómez-Rúa   +3 more
doaj   +1 more source

Queratocono: una revisión y posible situación epidemiológica en Colombia.

NOVA, 2007
En Colombia y en el mundo entero sabemos cómo definir el queratocono, lo  diagnosticamos con una excelente propiedad, incluso muchas veces, aún sin ayuda de la topografía corneal, con una prueba de queratometría, los profesionales de la salud visual y ...
Matilde Mora Valencia, Claudia Bonilla Estévez, Oswaldo Vargas Garzón, Olga Lucía Giraldo Valencia   +3 more
doaj   +1 more source

Random Changes of Accommodation Stimuli: An Automated Extension of the Flippers Accommodative Facility Test [PDF]

, 2018
Postprint (author's final ...
Aldaba Arévalo, Mikel, Díaz Douton, Fernando, López, Silvia, Otero Molins, Carles, Pujol Ramo, Jaume, Vera Diaz, Fuensanta   +5 more
core   +2 more sources

Saúde ocular de escolares: atuação de enfermeiros [Schoolchildren’s eye health: nurses’ role] [Salud ocular de estudiantes: actuación de las enfermeras]

Revista Enfermagem UERJ, 2016
Objetivo: capacitar e acompanhar o enfermeiro da estratégia de saúde da família na investigação de alteração visual em alunos da 1ª série do Ensino Fundamental. Método: estudo analítico transversal, aprovado pelo Comitê de Ética em Pesquisa sob o CAAE: 0378.0.146.000-11, realizado em cinco escolas de um município do interior de São Paulo, em 2011 ...
Mayara Larissa Nilsen Schumaher, Maria Elisabete Rodrigues Freire Gasparetto   +1 more
openaire   +4 more sources

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

Ocular and Visual Alterations in Computer Workers Contact Lens Wearers: Scoping Review [PDF]

, 2014
Fundamentos: El elevado número de personas que trabajando con ordenador utiliza lentes de contacto plantea la cuestión sobre si la suma de estos dos factores de riesgo para la salud visual puede originar un agravamiento del Síndrome Visual Informático ...
Ronda-Pérez, Elena, Seguí-Crespo, Mar, Tauste Francés, Ana   +2 more
core   +1 more source

Pigmentos y salud ocular

, 2023
La importancia de la salud visual es cada vez mayor, siendo el crecimiento de la esperanza de vida una de las razones más importantes en los últimos años. En los últimos tiempos, ha aumentado de forma considerable el estudio sobre el papel que tienen determinados pigmentos en la salud visual.
openaire   +2 more sources

Elevated Connectivity During Language Processing Is Associated With Cognitive Performance in SeLECTS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Self‐Limited Epilepsy with Centrotemporal Spikes (SeLECTS) is associated with language impairments despite seizures originating in the motor cortex, suggesting aberrant cross‐network interactions. Here we tested whether functional connectivity in SeLECTS during language tasks predicts language performance.
Wendy Qi, Katharine Lee, Kerry C. Nix, Miguel Menchaca, Xiwei Shé, Lorelei Santa Maria, Wei Wu, Zihuai He, Fiona M. Baumer   +8 more
wiley   +1 more source

GAD65 Antibody ELISA With Extended Reportable Range: Validation and Guidance for Neurological Practice

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To (1) validate GAD65‐ELISA detection and quantification for type 1 diabetes mellitus and autoimmune neurological diagnoses, (2) correlate ELISA results (reference range < 5 IU/mL) with established radioimmunoprecipitation assay (RIA; ≤ 0.02 nmol/L), and (3) define ELISA clinical utility and pitfalls.
Andrew McKeon, Dana Olofson, Diana Anissian, Divyanshu Dubey, Eoin P. Flanagan, Max C. Herman, Sarosh R. Irani, Daniel H. Lachance, Maria A. Willrich, Sean Pittock, John R. Mills, Anastasia Zekeridou   +11 more
wiley   +1 more source