Von Hippel-Lindau disease (VHL) is an autosomal dominant tumour syndrome caused by germline mutations of the VHL tumour suppressor gene located on chromosome 3p25-26. In VHL tumours may occur in 14 different target organs, including the eye. Retinal angiomas are considered the first manifestation of VHL disease in 43% of cases, and the cumulative probability of developing a retinal angioma in one or both eyes rises during each decade of life, reaching 80% for patients over 80 years old. Since 1976 patients with VHL at the University Hospital of Utrecht and their at-risk relatives have been screened periodically by a multidisciplinary team. Long-term follow-up ophthalmological data were analysed with special attention to natural course and results of treatment. In addition, we looked for a genotype-phenotype correlation. Retinal angiomas were found in all families. In one large family with a missense mutation (V170D) of the VHL gene, in which the complete spectrum of visceral- and central nervous system (CNS) features of VHL is present, macular, parapapillary, optic disc and ora serrata angiomas were also found. In general, however, a clear-cut genotype-phenotype correlation could not be found. Only early detection and treatment of peripheral retinal angiomas can be expected to decrease the percentage of patients with decreased visual acuity. Therefore, early detection and treatment of these tumours is of paramount importance. Ophthalmological screening of patients and persons at risk should start as early as possible. In patients with apparently sporadic retinal angiomas it is advisable to perform germline DNA analysis, since the risk of developing VHL is high, especially if the angiomas are bilateral, or unilateral and multifocal, if the patient is young, or if there is a family history suggestive of VHL. 相似文献
Parallel Programming skills may require a long time to acquire. “Think in parallel” is a skill that requires time, effort, and experience. In this work, we propose to facilitate the students’ learning process in parallel programming by using instant messaging. Our aim was to find out whether students’ interaction through instant messaging tools is beneficial for the learning process. In order to do so, we asked several students of an HPC course of the Master’s degree in Computer Science of the University of León to develop a specific parallel application, each of them using a different application program interface: OpenMP, MPI, CUDA, or OpenCL. Even though the used APIs are different, there are common points in the design process. We encouraged students to interact with each other by using Gitter, an instant messaging tool for GitHub users. Our analysis of the communications and results demonstrate that the direct interaction of students through the Gitter tool has a positive impact on the learning process.
The Journal of Supercomputing - This article presents a set of linear regression models to predict the impact of task migration on different objectives, like performance and energy consumption. It... 相似文献
The Journal of Supercomputing - Left ventricular non-compaction (LVNC) is a rare cardiomyopathy characterized by abnormal trabeculations in the left ventricle cavity. Although traditional computer... 相似文献
The Journal of Supercomputing - The integration of a Supercomputer in the educational process improves student’s technological skills. The aim of the paper is to study the interaction between... 相似文献
In this paper, we verify how far electric disturbance signals can be compressed without compromising the analysis of encoded fault records. A recently proposed compression algorithm, referred to as Damped Sinusoidal Matching Pursuit (DSMP) has the remarkable feature of obtaining both compact and physically interpretable representations. However, for fault analysis applications, one is primarily interested in how accurate can be the analysis performed on compressed signals, instead of evaluating mean-squared error figures. Unlike previous works in digital fault records compression, the performance of the DSMP compression method is evaluated using a protocol based on fault analysis procedures commonly performed by expert engineers. This protocol is applied for comparing the results obtained in the analysis of both uncompressed records and their compressed versions at different compression ratios. The results show that the DSMP is a reliable compression system since it achieves high compression ratios (6.4:1) without causing fault analysis misinterpretation. 相似文献
In this paper, a low complexity data demodulation algorithm is proposed that requires time of arrival information of the received signal exclusively. As an application example, the algorithm is applied to an ultra-wideband impulse radio communication system with pulse position modulation. The algorithm is insensitive to a common time delay for all pulses, that means, it does not require an accurate synchronization between the transmitter and the receiver. For the performance estimation, only a symbol synchronization is assumed, i.e., that there is a priori knowledge which pulse marks the beginning of a received data symbol. The performance of the proposed algorithm is evaluated for straightforward time of arrivals estimators, such as a maximum detector or a threshold detector. It is shown that the proposed algorithm outperforms a least squares algorithm in all considered scenarios. In particular, an increased robustness against additive white Gaussian noise, impulse like noise, and multiuser interference is demonstrated as well as an improved performance for multipath propagation channels. 相似文献
The least-squares linear estimation problem (including prediction, filtering and fixed-point smoothing) from measurements transmitted by different sensors subject to random packet dropouts is addressed. For each sensor, a different Bernoulli sequence is used to model the packet dropout process. Under the assumption that the signal evolution model is unknown, recursive estimation algorithms are derived by an innovation approach, requiring only information about the covariances of the processes involved in the observation equation, as well as the knowledge of the dropout probabilities at each sensor. 相似文献
We present a process to automatically generate three-dimensional mesh representations of the complex, arborized cell membrane surface of cortical neurons (the principal information processing cells of the brain) from nonuniform morphological measurements. Starting from manually sampled morphological points (3D points and diameters) from neurons in a brain slice preparation, we construct a polygonal mesh representation that realistically represents the continuous membrane surface, closely matching the original experimental data. A mapping between the original morphological points and the newly generated mesh enables simulations of electrophysiolgical activity to be visualized on this new membrane representation. We compare the new mesh representation with the state of the art and present a series of use cases and applications of this technique to visualize simulations of single neurons and networks of multiple neurons. 相似文献