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Computer haben im Mathematik-Unterricht bisher vor allem die Funktion, Abstraktes bildlich zu veranschaulichen. Neu sind interaktive Programme, mit denen Schüler experimentieren und spielerisch ein Gefühl für Zusammenhänge entwickeln können. Erste Versuche zeigen, dass dieses Angebot, »Mathematik erfahrbar zu machen«, die Schüler stark motiviert. Computer sind wichtige Mittler zwischen der realen Welt und den Abstraktionen ihrer mathematischen Beschreibung. Denn: Mathematik wohnt den Dingen nicht inne, man sieht sie mit dem »mathematischen Blick« in die Dinge hinein. Erst dadurch gliedert sich der Raum um uns in Punkte, Strecken, Ebenen und all die anderen geometrischen Objekte. Diese Objekte selbst sind nicht real, und materielle Modelle, die wir zu ihrer Veranschaulichung heranziehen, unterliegen Einschränkungen, von denen man abstrahieren muss. Wir zeigen anhand zweier aktueller Entwicklungs- und Forschungsprojekte, wie Computer helfen können, diese Kluft zu überbrücken. ...
TMEM70 is involved in the biogenesis of mitochondrial ATP synthase and mutations in the TMEM70 gene impair oxidative phosphorylation. Herein, we report on pathology and treatment of ATP synthase deficiency in four siblings. A consanguineous family of Roma (Gipsy) ethnic origin gave birth to 6 children of which 4 were affected presenting with dysmorphic features, failure to thrive, cardiomyopathy, metabolic crises, and 3-methylglutaconic aciduria as clinical symptoms. Genetic testing revealed a homozygous mutation (c.317-2A>G) in the TMEM70 gene. While light microscopy was unremarkable, ultrastructural investigation of muscle tissue revealed accumulation of swollen degenerated mitochondria with lipid crystalloid inclusions, cristae aggregation, and exocytosis of mitochondrial material. Biochemical analysis of mitochondrial complexes showed an almost complete ATP synthase deficiency. Despite harbouring the same mutation, the clinical outcome in the four siblings was different. Two children died within 60 h after birth; the other two had recurrent life-threatening metabolic crises but were successfully managed with supplementation of anaplerotic amino acids, lipids, and symptomatic treatment during metabolic crisis. In summary, TMEM70 mutations can cause distinct ultrastructural mitochondrial degeneration and almost complete deficiency of ATP synthase but are still amenable to treatment.
Studying the visual system with fMRI often requires using localizer paradigms to define regions of interest (ROIs). However, the considerable interindividual variability of the cerebral cortex represents a crucial confound for group-level analyses. Cortex-based alignment (CBA) techniques reliably reduce interindividual macroanatomical variability. Yet, their utility has not been assessed for visual field localizer paradigms, which map specific parts of the visual field within retinotopically organized visual areas. We evaluated CBA for an attention-enhanced visual field localizer, mapping homologous parts of each visual quadrant in 50 participants. We compared CBA with volume-based alignment and a surface-based analysis, which did not include macroanatomical alignment. CBA led to the strongest increase in the probability of activation overlap (up to 86%). At the group level, CBA led to the most consistent increase in ROI size while preserving vertical ROI symmetry. Overall, our results indicate that in addition to the increased signal-to-noise ratio of a surface-based analysis, macroanatomical alignment considerably improves statistical power. These findings confirm and extend the utility of CBA for the study of the visual system in the context of group analyses. CBA should be particularly relevant when studying neuropsychiatric disorders with abnormally increased interindividual macroanatomical variability.