Motifs slaves dans les lettres autrichiennes du XIXe siècle: tentative de compréhension et de synthèse dans le cas de Marie von Ebner-Eschenbach

Marie von Ebner-Eschenbach (1830-1916) was born and grew up in Moravia. Despite the fact that her very first language was Czech, all her literary work was written in German ; despite of her Czech origins from her fatherside, all the references to be found in her work concerning the social and national development of the Czech society of that time express, if not animosity, at least a total lack of understanding. Everthing happens as if the author just wanted to confirm and uphold the official views of the Austrian Monarchy. In this article, I’d like to show, mainly on the example of the novel Božena (1876), that a more careful reading which would take into account not only the textual statements of the writer, but as well the composition of the plot and the various behaviors of the Czech and German protagonists, could allow to bring nuances to Ebner-Eschenbach’s position towards the Czech – namely to see that she was perfectly aware and respectful of the cultural diversity and complexity of the Czech lands and that she felt a deep compassion for the claims of the minorities asking for the transformation of the Habsburg Empire into a Federation of free nations.

Familial occurrence and heritable connective tissue disorders in cervical artery dissection

OBJECTIVE In a large series of patients with cervical artery dissection (CeAD), a major cause of ischemic stroke in young and middle-aged adults, we aimed to examine frequencies and correlates of family history of CeAD and of inherited connective tissue disorders. METHODS We combined data from 2 large international multicenter cohorts of consecutive patients with CeAD in 23 neurologic departments participating in the CADISP-plus consortium, following a standardized protocol. Frequency of reported family history of CeAD and of inherited connective tissue disorders was assessed. Putative risk factors, baseline features, and 3-month outcome were compared between groups. RESULTS Among 1,934 consecutive patients with CeAD, 20 patients (1.0%, 95% confidence interval: 0.6%-1.5%) from 17 families (0.9%, 0.5%-1.3%) had a family history of CeAD. Family history of CeAD was significantly more frequent in patients with carotid location of the dissection and elevated cholesterol levels. Two patients without a family history of CeAD had vascular Ehlers-Danlos syndrome with a mutation in COL3A1. This diagnosis was suspected in 2 additional patients, but COL3A1 sequencing was negative. Two patients were diagnosed with classic and hypermobile Ehlers-Danlos syndrome, one patient with Marfan syndrome, and one with osteogenesis imperfecta, based on clinical criteria only. CONCLUSIONS In this largest series of patients with CeAD to date, family history of symptomatic CeAD was rare and inherited connective tissue disorders seemed exceptional. This finding supports the notion that CeAD is a multifactorial disease in the vast majority of cases.

Poetik des Unbehagens. Unlust als 'point de départ' in Romanen Marie NDiayes

Die Romane der französischen Autorin Marie NDiaye (geb. 1967) sind durchzogen von Zuständen des Unwohlseins: NDiayes Protagonistinnen werden auf diffuse Weise sozial ausgegrenzt oder massiv bedrängt, verlieren die Kontrolle über ihren Körper oder geraten in schwindelerregende Zweifel über den Realitätsgehalt ihrer Sinneswahrnehmungen und Erinnerungen. Anhand der Romane "En famille" (1990), "Autoportrait en vert" (2005) und "Mon cœur à l’étroit" (2007) zeigt der Aufsatz, dass diese Momente des Unbehagens nicht nur die Suchbewegungen und Erkenntnisprozesse der Romanfiguren auslösen, sondern auch die kreative Spannung bilden, die den Vorgang der literarischen inventio in Gang setzt. Theoretische Modelle einer Psychologie, in der Unlust als Antrieb fungiert, finden sich bei Leibniz, Locke und Freud; Elemente einer Narratologie der Unlust, mit der sich die quête-Struktur von NDiayes Romanen beschreiben lässt, bietet die strukturalistische Märchentheorie Wladimir Propps und seiner Nachfolger.

Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1

Dent disease is a rare X-linked tubulopathy characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis and/or nephrolithiasis, progressive renal failure, and variable manifestations of other proximal tubule dysfunctions. It often progresses over a few decades to chronic renal insufficiency, and therefore molecular characterization is important to allow appropriate genetic counseling. Two genetic subtypes have been described to date: Dent disease 1 is caused by mutations of the CLCN5 gene, coding for the chloride/proton exchanger ClC-5; and Dent disease 2 by mutations of the OCRL gene, coding for the inositol polyphosphate 5-phosphatase OCRL-1. Herein, we review previously reported mutations (n = 192) and their associated phenotype in 377 male patients with Dent disease 1 and describe phenotype and novel (n = 42) and recurrent mutations (n = 24) in a large cohort of 117 Dent disease 1 patients belonging to 90 families. The novel missense and in-frame mutations described were mapped onto a three-dimensional homology model of the ClC-5 protein. This analysis suggests that these mutations affect the dimerization process, helix stability, or transport. The phenotype of our cohort patients supports and extends the phenotype that has been reported in smaller studies.