Uveitis, defined as inflammation of the uveal tract of the eye, is a leading cause of blindness and visual impairment throughout the world. The etiology of uveitis is complex, and autoimmunity plays a major role in its pathogenesis. Intermediate uveitis (IU), a subtype of ocular inflammation, has been associated with systemic autoimmune disorders, specifically with multiple sclerosis (MS). This article reports a rare three-generation family with several members affected by IU (four siblings) and comorbid MS (two siblings fulfilling MS diagnostic criteria and a third sibling presenting some neurological symptoms). Based on the clinical findings, we captured and sequenced whole exomes of seven pedigree members (affected and unaffected). Using a recessive model of transmission with full penetrance, we applied genetic linkage analysis to define minimal critical regions (MCRs) in suggestive or nominal regions of linkage. In these MCRs, we defined functional (some pathogenic), novel, and rare mutations that segregated as homozygous in affected and heterozygous in unaffected family members. The genes harboring these mutations, including DGKI, TNFRSF10A, GNGT1, CPAMD8, and BAFF, which are expressed in both eye and brain tissues and/or are related to autoimmune diseases, provide new avenues to evaluate the inherited causes of these devastating autoimmune conditions.
La autopresentación permite a las personas mostrar una imagen deseada en un afán de pertenecer a diferentes grupos y sentirse bien; por ello, es relevante contar con instrumentos que permitan medir dicho constructo apropiadamente. Este estudio tuvo por propósito adaptar la escala de tácticas de autopresentación (ETA) en una muestra de adultos de la Ciudad de México y área metropolitana. Participaron 626 voluntarios de entre 18 y 60 años. Se obtuvo un instrumento conformado por siete factores que explican el 52 % de la varianza, con un alfa de Cronbach de .90 y con evidencias convergentes de validez al estar correlacionada con la escala de manejo de impresiones de Bolino y Turnley y la escala de necesidad de aprobación social. En conclusión, existen evidencias de validez y confiabilidad que sustentan el uso de la ETA. Además, se apoyó la premisa de que algunas tácticas pueden configurarse de manera diferente dependiendo del contexto cultural, mientras que otras se presentan análogamente en múltiples culturas.
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