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
Very low bit-rate video coding has recently become one of the most important areas of image communication and a large variety of applications have already been identified. Since conventional approaches are reaching a saturation point, in terms of coding efficiency, a new generation of video coding techniques, aiming at a deeper “understanding” of the image, is being studied. In this context, image analysis, particularly the identification of objects or regions in images (segmentation), is a very important step. This paper describes a segmentation algorithm based on split and merge. Images are first simplified using mathematical morphology operators, which eliminate perceptually less relevant details. The simplified image is then split according to a quad tree structure and the resulting regions are finally merged in three steps: merge, elimination of small regions and control of the number of regions. 相似文献
PURPOSE: To evaluate in a prospective study the efficacy of autologous bone marrow transplantation (BMT) in adult patients with acute myelogenous leukemia (AML) in first remission, using a single course of high-dose Cytarabine (HD Ara-C) consolidation therapy as in vivo purging. PATIENTS AND METHODS: Sixty consecutive adult patients with AML in first complete remission (CR) were treated with HD Ara-C consolidation therapy as a method of in vivo purging before marrow collection. High-dose therapy consisted of fractionated total-body irradiation (FTBI) 12 Gy, intravenous etoposide 60 mg/kg, and cyclophosphamide 75 mg/kg, followed by reinfusion of cryopreserved marrow. RESULTS: Sixty patients underwent consolidation treatment with HD Ara-C with the intent to treat with autologous BMT. Sixteen patients were unable to proceed to autologous BMT (10 patients relapsed, one died of sepsis, one developed cerebellar toxicity, two had inadequate blood counts, and two refused). Forty-four patients underwent autologous BMT and have a median follow-up time of 37 months (range, 14.7 to 68.7) for patients who are alive with no relapse. The cumulative probability of disease-free survival (DFS) at 24 months in the intent-to-treat group is 49% (95% confidence interval [CI], 37% to 62%) and in those who actually underwent autologous BMT is 61% (95% CI, 46% to 74%). The probability of relapse was 44% (95% CI, 31% to 58%) and 33% (95% CI, 20% to 49%) for the intent-to-treat and autologous BMT patients, respectively. CONCLUSION: This approach offers a relatively high DFS rate to adult patients with AML in first CR. The results of this study are similar to those achieved with allogeneic BMT. 相似文献
Individual yeast cells can be successfully isolated and recultured on plates with a new isolation method making use of optical trapping with infrared laser light. The cells can be selected on morphological criteria by high resolution microscopy. The isolation device is constructed from two coverslips separated by spacers, in which selected cells are transferred to a plastic capillary, using the optical trap. To test the procedure, selection experiments were done with a mixture of two Saccharomyces cerevisiae strains, distinguishable both in fluorescence microscopy and on agar plates. These experiments showed that only selected cells were isolated, and close to 100% of the isolated stationary-phase cells formed colonies on agar plates, indicating a high recovery. A lower recovery was obtained with exponential-phase cells, possibly because of a higher sensitivity to laser irradiation. Applications for this method may include the isolation of mutants with altered morphology and the isolation of subpopulations of yeast cultures, for their separate investigation or for the initiation of pure cultures. 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
Applied Intelligence - The17 Sustainable Development Goals (SDGs) established by the United Nations Agenda 2030 constitute a global blueprint agenda and instrument for peace and prosperity... 相似文献