Results 61 to 70 of about 2,076 (266)
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi +2 more
wiley +1 more source
Odontología Sanmarquina, 2011 El propósito del estudio fue determinar los factores de riesgo como hábito de higiene bucal, hábitos dietéticos y forma de transmisibilidad microbiana (madre – niño) que favorecen la aparición de caries dental en infantes atendidos en la Clínica del Niño
María Castañeda Mosto +3 more
doaj +1 more source
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
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
Caracterización del inicio de la diabetes mellitus tipo 1 en menores de 18 años
Revista Finlay, 2016 Fundamento: la diabetes mellitus tipo 1 es la enfermedad crónico endocrinológica más frecuente en la edad pediátrica y la segunda enfermedad crónica en la infancia después del asma bronquial, en los países desarrollados.
Yan González Ramos +4 more
doaj +2 more sources
Scanning Violence in the Construction of Subjectivity
Revista Electrónica Educare, 2012 This paper provides an overview of the construction of subjectivity from an analytical-binding perspective. It explains how the inter-subjectivity of each individual is the result of interplay between inter-subjectivity and trans-subjectivity.
Marcela Amador-Calvo
doaj
Violante Sánchez, fille de roi et filleule de reine
E-Spania, 2010 Fière de son ascendance royale, l’infante Violante, fille illégitime de Sanche IV, arbora toujours son prestigieux lignage avec ostentation. Bien qu’elle n’ait pas joué un rôle politique de premier plan en Castille, cette femme sut utiliser sa lignée ...
Charles Garcia
doaj +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Onasemnogene abeparvovec (OA) is an AAV9‐based gene therapy for spinal muscular atrophy type I (SMA I). Real‐world outcomes show increased response variability compared to clinical trials, and follow‐up data beyond 12–18 months are limited.
Marika Pane +43 more
wiley +1 more source
Cuerpos inhumanos en vasijas del estado de Campeche Bodies buried in vassels from Campeche state
Estudios de Cultura Maya, 2010 En este trabajo presentamos los resultados del proceso de microexcavación y análisis osteológico de dos entierros de sujetos infantiles, uno de edad fetal (32 a 34 semanas) y otro de alrededor de 4 años de edad en el momento de la muerte, en dos vasijas ...
Albertina Ortega Palma +1 more
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