27 research outputs found

    The Constrained Equal Award Rule for Bankruptcy Problems with a Priori Unions

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    In this paper, we provide four extensions of the constrained equal award rule for bankruptcy situations to the class of bankruptcy situations with a priori unions. We present some characterisations and relations with corresponding games. The four new extensions are illustrated by a specific application.bankruptcy;a priori unions;constrained equal award

    The Constrained Equal Award Rule for Bankruptcy Problems with a Priori Unions

    Get PDF
    In this paper, we provide four extensions of the constrained equal award rule for bankruptcy situations to the class of bankruptcy situations with a priori unions. We present some characterisations and relations with corresponding games. The four new extensions are illustrated by a specific application.

    Deletions of specific exons of FHOD3 detected by next-generation-sequencing are associated with hypertrophic cardiomyopathy

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    Despite new strategies, such as evaluating deep intronic variants and new genes in whole-genome-sequencing studies, the diagnostic yield of genetic testing in hypertrophic cardiomyopathy (HCM) is still around 50%. FHOD3 has emerged as a novel disease-causing gene for this phenotype, but the relevance and clinical implication of copy-number-variations (CNVs) have not been determined. In this study, CNVs were evaluated using a comparative depth-of-coverage strategy by NGS in 5493 hypertrophic cardiomyopathy probands and 2973 disease-controls. We detected three symmetrical deletions in FHOD3 that involved exons 15 and 16 in three HCM families (no CNVs were detected in the control group). These exons are part of the diaphanous inhibitory domain of FHOD3 protein, considered a cluster of mutations for HCM. The clinical characteristics of the affected carriers were consistent with those reported in FHOD3 in previous studies. This study highlights the importance of performing CNV analysis systematically in NGS genetic testing panels for HCM, and reinforce the relevance of the FHOD3 gene in the disease. This article is protected by copyright. All rights reserved

    Formin Homology 2 Domain Containing 3 (FHOD3) Is a Genetic Basis for Hypertrophic Cardiomyopathy

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    BACKGROUND: The genetic cause of hypertrophic cardiomyopathy remains unexplained in a substantial proportion of cases. Formin homology 2 domain containing 3 (FHOD3) may have a role in the pathogenesis of cardiac hypertrophy but has not been implicated in hypertrophic cardiomyopathy. OBJECTIVES: This study sought to investigate the relation between FHOD3 mutations and the development of hypertrophic cardiomyopathy. METHODS: FHOD3 was sequenced by massive parallel sequencing in 3,189 hypertrophic cardiomyopathy unrelated probands and 2,777 patients with no evidence of cardiomyopathy (disease control subjects). The authors evaluated protein-altering candidate variants in FHOD3 for cosegregation, clinical characteristics, and outcomes. RESULTS: The authors identified 94 candidate variants in 132 probands. The variants' frequencies were significantly higher in patients with hypertrophic cardiomyopathy (74 of 3,189 [2.32%]) than in disease control subjects (18 of 2,777 [0.65%]; p < 0.001) or in the gnomAD database (1,049 of 138,606 [0.76%]; p < 0.001). FHOD3 mutations cosegregated with hypertrophic cardiomyopathy in 17 families, with a combined logarithm of the odds score of 7.92, indicative of very strong segregation. One-half of the disease-causing variants were clustered in a small conserved coiled-coil domain (amino acids 622 to 655); odds ratio for hypertrophic cardiomyopathy was 21.8 versus disease control subjects (95% confidence interval: 1.3 to 37.9; p < 0.001) and 14.1 against gnomAD (95% confidence interval: 6.9 to 28.7; p < 0.001). Hypertrophic cardiomyopathy patients carrying (likely) pathogenic mutations in FHOD3 (n = 70) were diagnosed after age 30 years (mean 46.1 ± 18.7 years), and two-thirds (66%) were males. Of the patients, 82% had asymmetric septal hypertrophy (mean 18.8 ± 5 mm); left ventricular ejection fraction <50% was present in 14% and hypertrabeculation in 16%. Events were rare before age 30 years, with an annual cardiovascular death incidence of 1% during follow-up. CONCLUSIONS: FHOD3 is a novel disease gene in hypertrophic cardiomyopathy, accounting for approximately 1% to 2% of cases. The phenotype and the rate of cardiovascular events are similar to those reported in unselected cohorts. The FHOD3 gene should be routinely included in hypertrophic cardiomyopathy genetic testing panels

    BDWatchdogFaaS: A Tool for Monitoring and Analysis of Functions-as-a-Service in Cloud Environment

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    Cursos e Congresos , C-155BDWatchdog is a framework to assist in the in-depth and real-time analysis of the execution of Big Data frameworks and applications. BDWatchdog was originally developed to monitor Hadoop ecosystems deployed on serverless containers, in order to detect bottlenecks and spot certain patterns that frameworks or applications may have. In thisworkwe shift the focus to monitoring serverless functions in the public cloud, by proposing an extension of BDWatchdog which captures, transforms and analyzes logs from both AWS Cloudwatch and Azure Application Insights, which store the logs from AWS Lambda and Azure Functions (respectively), the FaaS (Function-as-a-Service) solutions of the two main public cloud providers, AWS and Azure. The extension, called BDWatchdogFaaS, builds and stores a common model to both providers, allowing to consult, analyze and monitor function logs from AWS and Azure indistinctly. The transformation of logs into the common model is done by a FaaS of the corresponding provider, which in near real-time ingests, processes and sends the data to a common storage. In addition, the data is forwarded to a Power BI dashboard so that the serverless functions can be monitored easilyThis work was funded by the Ministry of Science and Innovation of Spain (ref. PDC2021- 121309-I00/MCIN/AEI/10.13039/501100011033) and by the European Union “NextGenerationEU/ PRTR”. CITIC is funded by the Xunta de Galicia through the collaboration agreement between the ConsellerŽıa de Cultura, EducaciÂŽon, FormaciÂŽon Profesional e Universidades and the Galician universities for the reinforcement of the research centres of the Galician University System (CIGUS
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