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Mutations in RIT1, involved in the RAS-MAPK pathway, have recently been identified as a cause for Noonan syndrome. We present two patients with Noonan syndrome caused by a RIT1 mutation with novel phenotypic manifestations, severe bilateral lower limb lymphedema starting during puberty, and fetal hydrops resulting in intrauterine fetal death, respectively. Including our patients, a total of 52 patients have been reported with Noonan syndrome caused by a RIT1 mutation. Our report contributes to the delineation of the phenotype associated with RIT1 mutations and underlines that lymphatic involvement is part of this spectrum. In addition, we provide an overview of the currently described Noonan syndrome patients with RIT1 mutations in literature. © 2016 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]

This article contends that the relation of early logical empiricism to Kant was more complex than is often assumed. It argues that Reichenbach's early work on Kant and Einstein, entitled The Theory of Relativity and A Priori Knowledge (1920) aimed to transform rather than to oppose Kant's Critique of Pure Reason. One the one hand, I argue that Reichenbach's conception of coordinating principles, derived from Kant's conception of synthetic a priori principles, offers a valuable way of accounting for the historicity of scientific paradigms. On the other hand, I show that even Reichenbach, in line with Neo-Kantianism, associated Kant's view of synthetic a priori principles too closely with Newtonian physics and, consequently, overestimated the difference between Kant's philosophy and his own. This is even more so, I point out, in the retrospective account logical empiricism presented of its own history. Whereas contemporary reconstructions of this history, including Michael Friedman's, tend to endorse this account, I offer an interpretation of Kant's conception of a priori principles that contrasts with the one put forward by both Neo-Kantianism and logical empiricism. On this basis, I re-examine the early Reichenbach's effort to accommodate these principles to the paradigm forged by Einstein. [ABSTRACT FROM AUTHOR]

Background Cognitive deficits have been reported in older cardiac patients. An underlying mechanism for these findings may be reduced cardiac function. The relationship between cardiac function as represented by different echocardiographic measures and different cognitive function domains in older cardiac patients remains unknown. Methods An older (≥70 years) heterogeneous group of 117 community-dwelling cardiac patients under medical supervision by a cardiologist underwent thorough echocardiographic assessment including left ventricular ejection fraction, cardiac index, left atrial volume index, left ventricular mass index, left ventricular diastolic function, and valvular calcification. During a home visit, a neuropsychological assessment was performed within 7.1 ± 3.8 months after echocardiographic assessment; the neuropsychological assessment included three subtests of a word-learning test (encoding, recall, recognition) to examine one memory function domain and three executive function tests, including digit span backwards, Trail Making Test B minus A, and the Stroop colour-word test. Results Regression analyses showed no significant linear or quadratic associations between any of the echocardiographic functions and the cognitive function measures. Conclusions None of the echocardiographic measures as representative of cardiac function was correlated with memory or executive function in this group of community-dwelling older cardiac patients. These findings contrast with those of previous studies. [ABSTRACT FROM AUTHOR]