Results 61 to 70 of about 1,011,676 (305)
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 +11 more
wiley +1 more source
Memoria 2003: Servicio Andaluz de Salud
, 2004 La presente memoria de actividades del Servicio Andaluz de Salud refleja de manera fiel que 2003 ha sido el año de la cristalización de la gran mayoría de estrategias asistenciales y de gestión, concebidas, y progresivamente puestas en marcha, para la ...
Servicio Andaluz de Salud
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Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz +3 more
wiley +1 more source
, 2013 AUTORES Informe Uruguay DPTO. DE MEDICINA PREVENTIVA Y SOCIAL UDELAR Prof. Dra. Marisa Buglioli Prof. Agda. Dra. Ima León Prof. Adj. Dra. Cecilia Severi Asist. Dr. Miguel Alegretti Asist. Dr. Mario Romero Doc. Colaboradora: Dra.
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Quantifying the Impact of Ocrelizumab on Paramagnetic Rim Lesions in Multiple Sclerosis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Paramagnetic rim lesions (PRLs) are a subset of chronic active multiple sclerosis (MS) lesions marked by iron‐laden microglia and macrophages. Ocrelizumab, a monoclonal antibody targeting CD20+ B cells, suppresses acute MS activity, but its effect on PRLs remains unclear. In a longitudinal study of 29 ocrelizumab‐treated patients with at least
Kimberly H. Markowitz +9 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 +16 more
wiley +1 more source
Política de población en el Perú. Una respuesta madura
Acta Médica Peruana, 1979 La política de Población, aprobada el 31 de agosto de 1976 por D.S N°00625-76-SA, como Política Multisectorial incluida en el Plan Nacional de Desarrollo, es la respuesta madura, fruto de un análisis profundo de la realidad del país, al problema ...
Ministerio de Salud Dirección de Salud Materno Infantil y y Población
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Bioderecho.es, 2019 El acceso injustificado a la historia clínica por parte del personal sanitario es un problema práctico de marcada incidencia en la actualidad, que no ha conseguido resolverse a pesar de los avances de los últimos años en materia de historia clínica.
Andrea Salud Casanova Asencio
doaj +1 more source
Memoria 1999: Servicio Andaluz de Salud
, 2001 Memoria de las Actividades del Servicio Andaluz de Salud del año 1999, en la que se recogen de manera resumida y agregada, los principales indicadores de actividad asistencial y las actuaciones más importantes que este organismo público ha desarrollado ...
Servicio Andaluz de Salud
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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 +8 more
wiley +1 more source