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.

Cantate : Psalm 45 ; [Cantate aus Anlass der Feier der silbernen Hochzeit unseres ... Kaiserpaares ... Franz Joseph I. und ... Elisabeth Amalie Eugenia ; 24te April 1854 - 1879]

[in Musik gesetzt von] J[acob] Bachmann

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.

Lactate dehydrogenase concentration in nasal wash fluid indicates severity of rhinovirus-induced wheezy bronchitis in preschool children.

The clinical course of rhinovirus (RV)-associated wheezing illnesses is difficult to predict. We measured lactate dehydrogenase concentrations, RV load, antiviral and proinflammatory cytokines in nasal washes obtained from 126 preschool children with RV wheezy bronchitis. lactate dehydrogenase values were inversely associated with subsequent need for oxygen therapy. lactate dehydrogenase may be a useful biomarker predicting disease severity in RV wheezy bronchitis.