Context Congenital hypopituitarism (CH) is rarely observed in combination with severe joint contractures (arthrogryposis). Schaaf-Yang syndrome (SHFYNG) phenotypically overlaps with Prader-Willi syndrome, with patients also manifesting arthrogryposis. L1 syndrome, a group of X-linked disorders that include hydrocephalus and lower limb spasticity, also rarely presents with arthrogryposis. Objective We investigated the molecular basis underlying the combination of CH and arthrogryposis in five patients. Patients The heterozygous p.Q666fs*47 mutation in the maternally imprinted MAGEL2 gene, previously described in multiple patients with SHFYNG, was identified in patients 1 to 4, all of whom manifested growth hormone deficiency and variable SHFYNG features, including dysmorphism, developmental delay, sleep apnea, and visual problems. Nonidentical twins (patients 2 and 3) had diabetes insipidus and macrocephaly, and patient 4 presented with ACTH insufficiency. The hemizygous L1CAM variant p.G452R, previously implicated in patients with L1 syndrome, was identified in patient 5, who presented with antenatal hydrocephalus. Results Human embryonic expression analysis revealed MAGEL2 transcripts in the developing hypothalamus and ventral diencephalon at Carnegie stages (CSs) 19, 20, and 23 and in the Rathke pouch at CS20 and CS23. L1CAM was expressed in the developing hypothalamus, ventral diencephalon, and hindbrain (CS19, CS20, CS23), but not in the Rathke pouch. Conclusion We report MAGEL2 and L1CAM mutations in four pedigrees with variable CH and arthrogryposis. Patients presenting early in life with this combined phenotype should be examined for features of SHFYNG and/or L1 syndrome. This study highlights the association of hypothalamo-pituitary disease with MAGEL2 and L1CAM mutations.

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Digital media is a platform of immediate presence that rests on a demediatized communication. It favors virtual collective action that allows digital citizens, in contexts of accentuated social inequality, to construe themselves as anti-establishment. Our research explores the co-participative construction of an online shitstorm, in comments posted on websites generated to respond to power abuse and inequity in Chilean society. The construction of citizens' anger in digital discourse will be analyzed in light of the postulates of Systemic Functional Linguistics (SFL) and in the perspective of Critical Discourse Analysis (CDA). The corpus analyzed consists of 500 comments issued between April and July 2016 to contest a powerful Chilean businessman who uploads a video to YouTube to defend himself from the public verbal attacks of a congressman. The results of the analysis show representations related to corruption, power abuse and inequity from people who conceal in the economic power they have to assert they are ordinary citizens.

Los movimientos sociales marginados de la esfera pública chilena por el dominio de prácticas discursivas hegemónicas no necesariamente se corresponden con grupos activamente movilizados en las calles (Mayol, 2012). De hecho, muchos de estos movimientos sociales constituyen comunidades discursivas, cuyo lugar de encuentro es el espacio digital (Montecino y Arancibia, 2013; Woodly, 2008). En este espacio público virtual, los comentarios de blogs a columnas de opinión y editoriales tienen como objetivo visibilizar prácticas discursivas, cuyo propósito apunta a naturalizar estados de cosas reñidos con la ética (Fairclough y Fairclough, 2012). En este contexto, la emergencia de un nuevo orden del discurso ha traído consigo el establecimiento de alegatos públicos por casos de corrupción en la sociedad chilena. En otros términos, el comentario de blog se asume como un discurso político deslegitimado —una marcha virtual— que, desde el margen, da cuenta de la crisis ética de la sociedad chilena actual. El objetivo de este artículo consiste en visibilizar la construcción del juicio y la sanción pública de ciudadanos comunes en blogs de comentarios a editoriales y columnas de opinión. Con este propósito, se analizaron los comentarios recolectados en un período de seis meses —marzo a octubre de 2013— con el fin de indagar, desde una perspectiva discursiva, en la vinculación de actores sociales que surgen en las discusiones, con procesos y circunstancias a través de mecanismos de identificación e ideación, siguiendo la teoría postulada por Martin y Rose (2007) y Van Leeuwen (2008). Los resultados del análisis realizado a los comentarios coinciden en revelar que el retrato del conflicto y la censura se construyen sobre una realidad que oculta bajo el mismo nombre de un país —Chile— escenarios paralelos, colegios privados y clínicas para un sector de la población, mientras el resto accede a escuelas y hospitales públicos (Atria, 2013). Este estudio es parte del proyecto FONDECYT 1120784: Representaciones discursivas sobre la pobreza en ciberperiódicos chilenos

Congenital hypopituitarism (CH) is rarely observed in combination with severe joint contractures (arthrogryposis). Schaaf-Yang syndrome (SHFYNG) phenotypically overlaps with Prader-Willi syndrome, with patients also manifesting arthrogryposis. L1 syndrome: a group of X-linked disorders including hydrocephalus and lower limb spasticity, also rarely presents with arthrogryposis. We investigated the molecular basis underlying the combination of CH and arthrogryposis in five patients. The heterozygous p.Q666fs*47 mutation in the maternally imprinted MAGEL2 gene, previously described in multiple SHFYNG patients, was identified in Patients 1-4, all of whom manifested growth hormone deficiency and variable SHFYNG features, including dysmorphism, developmental delay, sleep apnea and visual problems. Non-identical twins (Patients 2 and 3) had diabetes insipidus and macrocephaly, and Patient 4 presented with ACTH insufficiency. A hemizygous L1CAM variant, p.G452R, previously implicated in L1 syndrome patients, was identified in Patient 5, who presented with antenatal hydrocephalus. Human embryonic expression analysis revealed MAGEL2 transcripts in the developing hypothalamus and ventral diencephalon at Carnegie stages (CS) 19, 20 and 23, and in Rathke's pouch at CS20 and 23. L1CAM was expressed in the developing hypothalamus, ventral diencephalon and hindbrain (CS19, 20, 23), but not in Rathke's pouch. We report MAGEL2 and L1CAM mutations in four pedigrees with variable CH and arthrogryposis. Patients presenting early in life with this combined phenotype should