Unilateral focal polymicrogyria in a patient with classical Aarskog-Scott syndrome due to a novel missense mutation in an evolutionary conserved RhoGEF domain of the faciogenital dysplasia gene FGD1

Faciogenital dysplasia or Aarskog-Scott syndrome (AAS) is an X-linked disorder characterized by craniofacial, skeletal, and urogenital malformations and short stature. Mutations in the only known causative gene FGD1 are found in about one-fifth of the cases with the clinical diagnosis of AAS. FGD1 is a guanine nucleotide exchange factor (GEF) that specifically activates the Rho GTPase Cdc42 via its RhoGEF domain. The Cdc42 pathway is involved in skeletal formation and multiple aspects of neuronal development. We describe a boy with typical AAS and, in addition, unilateral focal polymicrogyria (PMG), a feature hitherto unreported in AAS. Sequencing of the FGD1 gene in the index case and his mother revealed the presence of a novel mutation (1396A>G; M466V), located in the evolutionary conserved alpha-helix 4 of the RhoGEF domain. M466V was not found in healthy family members, in >300 healthy controls and AAS patients, and has not been reported in the literature or mutation databases to date, indicating that this novel missense mutation causes AAS, and possibly PMG. Brain cortex malformations such as PMG could be initiated by mutations in the evolutionary conserved RhoGEF domain of FGD1, by perturbing the signaling via Rho GTPases such as Cdc42 known to cause brain malformation.

Ein Interview mit Sir H. H. Johnston über Ostafrika

Harry H. Johnston

Perhaps Triangulation Isn’t Enough: a Call for Crystallization as a Methodological Referent in NOS Research

This research compares the methodological tools employed in NOS research, with analysis of what the comparison implies about the structure of nature of science knowledge. Descriptions of practicing teachers’ nature of science conceptions were compared based on data collected from forced choice responses, responses to a qualitative survey, and course writing samples. Participants’ understandings were scored differently on the Views of Nature of Science Questionnaire (VNOS) than the forced-choice measure, Scientific Thinking and Internet Learning Technologies (STILT). In addition, analysis of the writing samples and observations combined with interviews portrayed more sophisticated, but more variable, understandings of the nature of science than was evidenced by either the survey or the forced-choice measure. The differences between data collection measures included the degree to which they drew upon context bound or context general reasoning, the degree to which they required students to move beyond the simple intelligibility of their responses and allowed students to explore the fruitfulness of the constructs, as well as the degree to which they revealed the interconnection of participants NOS conceptions. In light of the different portrayals of a participants NOS conceptions yielded by these different measures, we call for the use of crystallization as a methodological referent in research.

Walter Scott's auserlesene Werke

In Fraktur

Walter Scott, Brustbild, Relief, Profil

Signatur des Originals: S 36/F01826

Charles Mackay als Bailie Nicol Jarvie, Rollenbild, in: Walter Scott: Rob Roy

Signatur des Originals: S 36/G04197

Walter Scott's sämmtliche Werke

neu übers. von Friedrich Funck

La interpretación lukacsiana del "gran realismo" de Walter Scott

Fil: Bonilla, Manuel. Universidad Nacional de La Plata. Facultad de Humanidades y Ciencias de la Educación; Argentina.

Experiencia, lenguaje e identidad : Algunas notas sobre el concepto de experiencia en la obra de Joan W. Scott

Este artículo se propone analizar la noción de experiencia presente en la obra de la historiadora feminista norteamericana Joan W. Scott. Se realiza un recorrido por las conceptualizaciones de dicha noción utilizadas en la Historia Social de los años sesenta, setenta y ochenta con las cuales Scott ha tenido importantes diálogos y discusiones. Por último, se presentan algunas críticas y limitaciones que, tanto desde la historia con perspectiva de género como desde la teoría feminista, se han señalado sobre el concepto de experiencia desarrollada por Scott

James J. Clauss y Sarah Iles Johnston (edd.). Medea. Princeton-New Jersey, Princeton University Press, 1997, xiii + 374 pp.

Fil: Schamun, María Cecilia. Universidad Nacional de La Plata. Facultad de Humanidades y Ciencias de la Educación; Argentina.

Medhi Charef, Emir Kusturika, Spike Lee, Katia Lund, Jordan y Ridley Scott, Stefano Veneruso, y John Woo. Todos los niños invisibles (All the invisible children)

Fil: Vicente, María Eugenia. Universidad Nacional de La Plata. Facultad de Humanidades y Ciencias de la Educación; Argentina.