1,673 research outputs found

    Discovery of the Principal Cystic Fibrosis Mutation (F508del) in Ancient DNA from Iron Age Europeans

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    The most common, life-threatening autosomal recessive disease of Europeans and Euro-Americans, cystic fibrosis (CF), occurs predominately in patients with the F508del mutation.1 Although F508del is currently detectable as a single allele in 1/30-1/40 Europeans2-4 and Euro-Americans,5 it has not been determined what heterozygote selective advantage(s) might account for its relatively high prevalence. Indirect evidence6 suggests that this mutation was present in Brittany at least 3000 years ago, but no direct analyses of ancient DNA have been reported to identify F508del and clarify its frequency in prehistoric inhabitants of Europe. Here we show that F508del was present in 3 of 32 Iron Age inhabitants of Austria from whom DNA could be recovered from molar teeth using procedures that fulfill authenticity criteria.7 Because these individuals, who were buried in cemeteries along the Danube river, were shown by radiocarbon dating of isolated bone collagen to have lived there during 544-255 BC, this indicates that the F508del mutation is definitely more than 2000 years old and that CF (the disease) was present among them. More generally, the apparent enrichment of this Iron Age population in F508del suggests an evolutionary advantage in their environment that can be investigated by interdisciplinary strategies of paleoepidemiology

    The existentialist : philosopher and/or artist : a justification of literary art forms as an alternate means of contemporary philosophic expression

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    101 leaves ; 28 cm.Includes abstract.Includes bibliographical references (leaves 95-101).The crux of the thesis demonstrates two related points: first, that the existentialists are justified in using different means of expression; and consequently, that criticism directed at the existentialist's usage of different forms of expression is unfounded. It was noticed that the existentialist is frequently referred to as a neurotic, morbid novelist/artist. It was assumed that such criticism does not constitute a valid argument against the existential philosophies. The first part of this thesis was organized to answer the following claim: if Existentialism, as a philosophy, is adequately different from what is normally perceived as traditional philosophy, then this difference supports the decision to use an alternate means of expression. In the second part, the literary art forms were examined. The claim is: if art forms (such as the novel and the drama) can satisfy the requirements of traditional philosophy, and are also beneficial to the expression of the existential philosophies, then this also supports the crux of the thesis. In the third part, a refutation of the chief concerns raised regarding the legitimacy of art forms as an alternate means of philosophic expression was presented. (Abstract shortened by UMI.

    Pedagogy matters: A framework for critical community-engaged courses in higher education

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    This article describes specific pedagogical components of a community engagement project between students in a psychology course and youth at a juvenile justice centre (JJS). The purpose of the research was to illustrate how feminist and critical pedagogies can create reciprocal community engagement that provides a space for learning at both college and community sites. The researchers involved in this study included the professor of the Psychology of Women course, a senior college student who previously took the course, the JJS volunteer coordinator and an education professor. Together, they employed qualitative, single case study methodology in order to understand the complex social phenomena of this community-engaged course. The results demonstrate that lessons addressing social inequities are beneficial for youth in JJS and offer a way to alleviate the gap in gender-specific programming. They also create community and offer an empowerment lens. By explicitly focusing on the pedagogical choices of the partnership, this research contributes to an understanding of how critical community engagement can provide mutual benefits

    Salvage Fractionated Stereotactic Re-irradiation (FSRT) for Patients with Recurrent High Grade Gliomas Progressed after Bevacizumab Treatment

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    Purpose/Objectives: Bevacizumab failure is a major clinical problem in the manage- ment of high grade gliomas (HGG), with a median overall survival of less than 4 months (m). This study evaluated the efficacy of fractionated stereotactic re-irradiation (FSRT) for patients with HGG after progression on Bevacizumab. Materials/Methods: Retrospective review was conducted of patients treated with FSRT after progression on bevacizumab. A total of 36 patients were identified. FSRT was most commonly delivered in 3.5 Gy fractions to a total dose of 35 Gy. Survival from initial diagnosis, as well as from recurrence and re-irradiation, were utilized as study endpoints. Univariate and multivariate analysis was performed. Results: Among the 36 patients, 31 patients had recurrent glioblastoma, and 5 patients had recurrent anaplastic astrocytoma. The median time from initial bevacizumab treatment to FSRT was 8.5 m (range 2.3 – 32.0 m). The median plan target volume for FSRT was 27.5 cc (range 1.95 – 165 cc). With a median follow up of 20.4 m, the overall survival of the patients since initial diagnosis was also 24.9 m. The median overall survival after initiation of bevacizumab was 13.4 months. The median overall survival from FSRT was 4.8 m. FSRT treatment was well tolerated with no Grade \u3e3 toxicity. Conclusions: Favorable outcomes were observed in patients with recurrent HGG who received salvage FSRT after bevacizumab failure. The treatment was well tolerated. Prospective study is warranted to further evaluate the efficacy of salvage FSRT for selected patients with recurrent HGG amenable to FSRT, who had failed bevacizumab treatment

    Graph Neural Networks for Particle Reconstruction in High Energy Physics detectors

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    Pattern recognition problems in high energy physics are notably different from traditional machine learning applications in computer vision. Reconstruction algorithms identify and measure the kinematic properties of particles produced in high energy collisions and recorded with complex detector systems. Two critical applications are the reconstruction of charged particle trajectories in tracking detectors and the reconstruction of particle showers in calorimeters. These two problems have unique challenges and characteristics, but both have high dimensionality, high degree of sparsity, and complex geometric layouts. Graph Neural Networks (GNNs) are a relatively new class of deep learning architectures which can deal with such data effectively, allowing scientists to incorporate domain knowledge in a graph structure and learn powerful representations leveraging that structure to identify patterns of interest. In this work we demonstrate the applicability of GNNs to these two diverse particle reconstruction problems
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