Measurement of optical to electrical and electrical to optical delays with ps-level uncertainty

We present a new measurement principle to determine the absolute time delay of a waveform from an optical reference plane to an electrical reference plane and vice versa. We demonstrate a method based on this principle with 2 ps uncertainty. This method can be used to perform accurate time delay determinations of optical transceivers used in fibre-optic time-dissemination equipment. As a result the time scales in optical and electrical domain can be related to each other with the same uncertainty. We expect this method to break new grounds in high-accuracy time transfer and absolute calibration of time-transfer equipment

RBM20 Mutations Induce an Arrhythmogenic Dilated Cardiomyopathy Related to Disturbed Calcium Handling

BACKGROUND: Mutations in RBM20 (RNA-binding motif protein 20) cause a clinically aggressive form of dilated cardiomyopathy, with an increased risk of malignant ventricular arrhythmias. RBM20 is a splicing factor that targets multiple pivotal cardiac genes, such as Titin (TTN) and CAMK2D (calcium/calmodulin-dependent kinase II delta). Aberrant TTN splicing is thought to be the main determinant of RBM20-induced dilated cardiomyopathy, but is not likely to explain the increased risk of arrhythmias. Here, we investigated the extent to which RBM20 mutation carriers have an increased risk of arrhythmias and explore the underlying molecular mechanism

Heritability in genetic heart disease : the role of genetic background

Background Mutations in genes encoding ion channels or sarcomeric proteins are an important cause of hereditary cardiac disease. However, the severity of the resultant disease varies considerably even among those with an identical mutation. Such clinical variation is often thought to be explained largely by differences in genetic background or ` modifier genes'. We aimed to test the prediction that identical genetic backgrounds result in largely similar clinical expression of a cardiac disease causing mutation, by studying the clinical expression of mutations causing cardiac disease in monozygotic twins. Methods We compared first available clinical information on 46 monozygotic twin pairs and 59 control pairs that had either a hereditary cardiomyopathy or channelopathy. Results Despite limited power of this study, we found significant heritability for corrected QT interval (QTc) in long QT syndrome (LQTS). We could not detect significant heritability for structural traits, but found a significant environmental effect on thickness of the interventricular septum in hypertrophic cardiomyopathy. Conclusions Our study confirms previously found robust heritability for electrical traits like QTc in LQTS, and adds information on low or lacking heritability for structural traits in heritable cardiomyopathies. This may steer the search for genetic modifiers in heritable cardiac disease.Peer reviewe

The ATLAS Level-1 muon topological trigger information for run 2 of the LHC

For run 2 of the LHC, the ATLAS Level-1 trigger system will include topological information on trigger objects in order to cope with the increased trigger rates. The existing Muon-to-Central-Trigger- Processor interface (MUCTPI) has been modified in order to provide coarse-grained topological information on muon candidates. A MUCTPI- to-Level-1-Topological-Processor interface (MuCTPiToTopo) has been developed to receive the electrical information and to send it optically to the Level-1 Topological Processor (L1TOPO). This poster will describe the different modules mentioned above and present results of functionality and connection tests performed