52 research outputs found

    Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.

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    Testicular germ cell tumor (TGCT) is the most common cancer in young men and is notable for its high familial risks. So far, six loci associated with TGCT have been reported. From genome-wide association study (GWAS) analysis of 307,291 SNPs in 986 TGCT cases and 4,946 controls, we selected for follow-up 694 SNPs, which we genotyped in a further 1,064 TGCT cases and 10,082 controls from the UK. We identified SNPs at nine new loci (1q22, 1q24.1, 3p24.3, 4q24, 5q31.1, 8q13.3, 16q12.1, 17q22 and 21q22.3) showing association with TGCT (P < 5 × 10(-8)), which together account for an additional 4-6% of the familial risk of TGCT. The loci include genes plausibly related to TGCT development. PRDM14, at 8q13.3, is essential for early germ cell specification, and DAZL, at 3p24.3, is required for the regulation of germ cell development. Furthermore, PITX1, at 5q31.1, regulates TERT expression and is the third TGCT-associated locus implicated in telomerase regulation

    Men er vi ikke egentlig sånn? En lesning av Jeg er egentlig ikke sånn (2022) av Marie Aubert som crossoverlitteratur.

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    Denne masteroppgaven tar utgangspunkt i begrepet crossover literature, som er hentet fra det engelske-amerikanske forskningsfeltet for ungdomslitteratur, Young Adult literature. Crossover-termen viser til litteratur som befinner seg i en grenseoppgang, enten mellom barnelitteratur og ungdomslitteratur, eller ungdomslitteratur og voksenlitteratur. Sistnevnte har blitt relevant for denne masteroppgaven. Basert på en lesning av Marie Auberts roman Jeg er egentlig ikke sånn (2022), forsøker jeg i denne oppgaven å argumentere for at det er mulig å lese romaner som dette med en dobbel inngang; En crossover-lesning. Crossover-lesningen grunner i en tanke om at det er mulig å ha både en ung, direkte og umiddelbar tilnærming til romanen, og en voksen, distansert og ironisk tilnærming til den. Jeg er egentlig ikke sånn handler om fire familiemedlemmer som møtes til konfirmasjon, og viser frem hvordan møtet mellom dem utarter seg. Den portretterer gjenkjennelige mennesker og situasjoner, og er skrevet kronologisk, med et kortfattet og tilgjengelig språk. Dette gjør at man kan antyde at den faktisk er crossoverlitteratur. Konsekvensene av crossover-lesningen, er at ulike litterære og fortellertekniske grep blir synlige i lesningen, og at det åpnes opp for flere forståelser av romanens karakterer, fortelling og mulige formål.This master’s thesis is based on the concept of crossover literature, which is a term taken from the English research field of Yong Adult literature. The term crossover refers to literature that finds itself at a borderline, either between children’s literature and youth literature, or between youth literature and adult literature. The latter is relevant for this master’s thesis. Based on a reading of the novel Jeg er egentlig ikke sånn (2022) by the author Marie Aubert, I try to argue that it is possible to read novels like this with a double entrance; A crossover reading. The crossover reading is based on the idea that it is possible to have both a young, direct and immediate approach to the novel, as well as an adult, distanced and ironic approach to it. Jeg er egentlig ikke sånn is about four family members who meet up for a weekend, to participate in a confirmation, and shows further how the meeting between them turns out. The novel is written chronologically, with a concise and accessible language, and portrays recognizable people and situations. This allows one to suggest that the novel actually is crossover literature. The consequences of the crossover reading are that various literary and storytelling techniques become visible in the reading, as well as that is opens up for several understandings of the narrative, the characters and the possible purpose or message of the novel

    Richtig belohnen beim Klicker-Training : Vergleich und Literaturübersicht der Vor- und Nachteile regelmäßiger und unregelmäßiger Verstärkung des Klickers

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    Bachelorarbeit - Veterinärmedizinische Universität Wien - 2023Beim Klicker-Training handelt es sich um eine Trainingsmethode basierend auf positiver Ver-stärkung, die zeitlich optimal und neutral (unabhängig von der Person) eingesetzt werden kann. Dabei wird das Tier zunächst mit positiver Verstärkung (meist Belohnung durch Futter als primärer Verstärker) auf den „Klick“ konditioniert, anschließend wird dann das Zeigen eines gewünschten Verhaltens durch diesen „Klick“ markiert (sekundärer Verstärker). Um die positive Verbindung des Klicks aufrecht zu erhalten, wird z.B. direkt nach dem Klick wieder mit Futter belohnt. Die Meinungen über die richtige Belohnungsweise in diesem Zusammenhang gehen auseinander: Ist eine kontinuierliche oder eine gelegentliche Futtergabe nach dem Klick sinn-voller? In der vorliegenden Studie wurde zunächst eine Aufarbeitung der Grundlagen zur Konditionierung von Verhalten in Form einer Literaturübersicht verfasst. Was sind die Vorteile intermittierender, bzw. kontinuierlicher Verstärkung? Anschließend wurde geschaut, wie sich die Belohnungen nach dem Klick in der Öffentlichkeit (Kreis Tiertrainer:innen) darstelle. Dazu wurden 50 Trainings-Videos mit Pferden in Bezug auf den Zeitpunkt der Verabreichung der Belohnung in Zusammenhang mit dem Klick ausgewertet. Die Auswertung von 50 Videos zeigte, dass in nur einem Fall nicht kontinuierlich nach jedem Klick mit Futter verstärkt wurde. Die Strategie der kontinuierlichen Belohnung (Futter nach jedem Klick) hat sich also sehr stark durchgesetzt. Nach Einschätzung der Verfasserin der vorliegenden Arbeit verlief das Training in 84 % der Videos gut und ohne größere Fehler. In 8 % der Videos wurden Fehler im Training von Seiten des/der Trainer:in gemacht (im falschen Moment geklickt). In weiteren 8 % der Videos verlief das Training laut Verfasserin weder gut noch schlecht. Der Belohnungsplan ist als nur ein Aspekt des Trainings anzusehen, die korrekte zeitlich und klare Ausführung scheint besonders wichtig. In der Literatur zeigt sich, dass grundsätzlich eine kontinuierliche Verstärkung zu einem schnellen Lernerfolg führt. Demgegenüber zeigt die gelegentliche Verstärkung eine langsamere Lern-kurve, das Erlernte bleibt aber länger ohne Belohnungen erhalten. Grundsätzlich sind also beide Strategien erfolgreich. In der Diskussion wurden mögliche Gründe für die starke Verbreitung der kontinuierlichen Verstärkung nach jedem Klick im Training angesprochen. Dies scheint nach Kenntnis der Lern-physiologie nicht unbedingt nötig, speziell, wenn das Tier schon länger im Training ist. Weitere Argument, die für die kontinuierliche Belohnung sprechen, sind aber sehr wohl vorhanden. So wurde in einer neuen Studie untersucht, wie sich die regelmäßige oder unregelmäßige Verstärkung auf das Wohlbefinden des Tieres auswirkt. Es wurde dabei davon ausgegangen, dass das Tier die kontinuierliche Belohnung erwartet (der Klick ist die Ankündigung der Belohnung) und ein Weglassen des Verstärkers einer negativen Bestrafung ähnelt und zu Frustration führt. Tatsächlich zeigten sich unregelmäßig verstärkte Hunde weniger motiviert. Dabei hatte die Persönlichkeit des Tieres einen Einfluss. Die alleinige Betrachtung der Lernphysiologie der Tiere scheint daher nicht ausreichend, um einen Belohnungsplan zu erstellen. Weiters sollten auch Aspekte der Anwendbarkeit berücksichtigt werden. Eine regelmäßige Verstärkung ist leichter anwendbar und trägt vermutlich auch zum Wohlbefinden des/der Trainers:in bei. Diese Aspekte, speziell der des Tierwohls, rechtfertigen die Anwendung der regelmäßigen Verstärkung.Bachelor thesis - University of Veterinary Medicine Vienna - 2023Clicker training is a training method based on positive reinforcement that can be used in an optimal and neutral way (independent of the person). In this technique, the animal is first conditioned to the "click" with positive reinforcement (usually food reward as the primary reinforcer), followed by marking the display of a desired behavior with this "click" (secondary reinforcer). To maintain the positive association of the click, the animal is rewarded immediately after the click, for example with food. Opinions differ on the right way to reward in this context: Is it more useful to feed continuously or occasionally after the click? In the following study, a review of the basics of the conditioning of behavior was first written in the form of a literature review with focus on the advantages of intermittent or continuous reward. Subsequently, it was analyzed which method of reward is used more frequently in horse training. For this purpose, 50 YouTube videos were evaluated regarding the time of administration of the reward in connection with the click. The evaluation of 50 videos showed that in only one case the reinforcement method was irregular. So, the strategy of continuous reward (food after each click) has become very popular. According to the author, the training went well and without major errors in 84 % of the videos. In 8 % of the videos, mistakes were made in training by the trainer (for example clicked at the wrong moment). In another 8 % of the videos, the training was neither good nor bad, according to the author. Thus, the reward schedule is only one aspect in the clicker training. The general correct use of the clicker (e.g., timing) is very important, too. The literature shows that, in general, continuous reinforcement leads to rapid learning success. In contrast, occasional reinforcement shows a slower learning curve, but what is learned is retained longer without rewards. Basically, both strategies are successful. Possible reasons for the proliferation of continuous reinforcement after each click were dis-cussed at the end. According to the knowledge of learning physiology a continuous reward does not seem to be necessary, especially if the animal already knows its tasks. There may be other arguments that favor continuous reinforcement. A new study examined how regular or irregular reinforcement affects the well-being of the animal. It was assumed that the animal expects the continuous reward (the click is the announcement of the reward) and that omission of the reinforcer resembles negative punishment and leads to frustration. In fact, irregular reinforced dogs were less motivated. The personality of the animal had an influence on its stress resistance. Therefore, solely considering the learning psychology of the animals does not seem to be sufficient. Aspects of applicability should also be considered. The procedure of always giving food after the click is easy to convey to trainers. It is also conceivable that the trainer considers it unfair not to always reward the animal when it has performed well. These aspects, especially that of animal welfare, justify the use of regular reinforcement

    Digital Infrastructures for Monitoring Circular Economy Investments by Financial Institutions and Government: A Research Agenda

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    Circular Economy (CE) and sustainability are getting high on the political agenda of governments on the global level. Businesses and supply chains are at the heart of that transition, and need to make big steps in the coming years for making the transition from a linear model of make-use-dispose towards a circular model. For this transition, financing plays a key role. Financial institutions operate in a highly regulated environment. In this context, we see two particular, yet complementary, areas where digital infrastructures can be of value to support this transition. They can (1) help the financial institutions gather data about supply chain operations and address the performance of financial instruments used for the green and circular transition (i.e. bottom-up, micro view); and (2) help regulators monitor the activities of financial institutions to ensure that provided financing is indeed used to stimulate circular supply chains (i.e. top-down, macro view). In this paper, we explore the scene for digital infrastructure deployment for CE monitoring when it comes to CE funding, and propose a framework and a research agenda on the topic.Information and Communication Technolog

    Political witchcraft

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    Der Fall von North Berwick mag zwar anfangs als unbedeutender Zwischenfall gegolten, doch gewann während der öffentlichen Verhandlungen, die in Edinburgh unter sorgfältiger Aufsicht von König James VI von Schottland abgehalten wurden, rasch mehr an Komplexität und Bedeutung für die Monarchie als je ein Hexenverfolgungsprozess zuvor. Wie der Titel dieser Arbeit zeigt („Politische Hexenjagd: Eine Neuaufnahme von Stewart Conns Drama „The Burning“ in seinem historischen Kontext“) ist es ihr Ziel, alle Unterschiede zwischen den tatsächlichen und den fiktionalen Ereignissen des Theaterstücks zu identifizieren und zu vergleichen. Um diesen wichtigen Kontrast herauszuarbeiten wird eine genaue Analyse des historischen Kontexts und theatrischen Umfelds, zusammen mit der Verschwörungstheorie gegeben, gefolgt von einer ausführlichen Diskussion der Hexenprozesse. Ein weiteres Kapitel beschäftigt sich mit den Hauptfiguren des Dramas im Vergleich mit ihren historischen Vorbildern. Abschließend werden die historischen Fakten mit den Ereignissen im Drama verglichen.Researchers who study the North Berwick witch-hunt (1590-1) are in a unique position, for these accusations marked the beginning of a long tradition that included enormous literary corpus and authentic documentation. This fortunate situation of dealing with such a fascinating material is thanked on the one hand, to the personal involvement of King James VI, whose person gained special prominence to the events and continues to distinguish the affair from other Scottish witchcraft cases even today, but on the other, also to the fact that, these trials embodied much more than simple witchcraft charges. The case of North Berwick was the most extensive – yet not the first – political witch-hunt in the history of Scotland that aimed to eliminate one particular rival (Bothwell) whom James VI and his court – seemingly – feared the most. The craze started as a relatively marginal affair – the healing potency of a maid, Gilles Duncan became suspicious – and ended with the fierce removal of the King's cousin, Francis Stewart, 5th Earl of Bothwell from the royal court. This thesis explores and compares the original historical events of the actual witch-hunt with the incidents portrayed by Stewart Conn in his play, The Burning. In doing so, the paper introduces the reader to the author and his play, examines the theory of witchcraft and absolutism, analyzes the historical background of the event and compares it with its fictional counterpart, deals with the witchcraft trials, focuses on the dramatic characters and reviews both the historical and fictional outcome

    Are the Morphological Indices of the Vertebrobasilar System Heritable? A Twin Study Based on 3D Reconstructed Models

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    Background and Objectives: The asymmetrical vertebral artery (VA) flow and diameter are common findings, which can result in an asymmetrical blood flow in the basilar artery (BA), leading to bending of the artery over time. This study investigated whether the variation of the different vertebrobasilar morphological indices that influence flow characteristics might be inherited. Materials and Methods: We analyzed 200 cerebral magnetic resonance imaging (MRI) scans of healthy Caucasian twins (100 pairs) who underwent time-of-flight MRI. From the scans, we reconstructed the 3D mesh of the posterior circulation from the start of the V4 segment to the basilar tip and subsequently analyzed the morphology of the vertebrobasilar system. The phenotypic covariances of the different morphological parameters were decomposed into heritability (A), shared (C), and unshared (E) environmental effects. Results: 39% of the twins had left dominant VA, while 32.5% had right dominant. In addition, 28.5% were classified as equal. The vertebral artery V4 segment diameter, curvature, and tortuosity were mainly influenced by shared (C) and unshared (E) environmental factors. A moderate heritability was found for the BA length (A: 63%; 95% CI: 45.7–75.2%; E: 37%; 95% CI: 24.8–54.3%) and volume (A: 60.1%; 95% CI: 42.4–73.2%; E: 39.9%; 95% CI: 26.8–57.6%), while the torsion of both arteries showed no heritability and were only influenced by the unshared environment. Conclusions: The length and volume of the BA show a moderate genetical influence. However, most of the measured morphological indices were influenced by shared and unshared factors, which highlight the role of the ever-changing hemodynamic influences shaping the geometry of the vertebrobasilar system

    Strong Genetic Effects on Bone Mineral Density in Multiple Locations with Two Different Techniques: Results from a Cross-Sectional Twin Study

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    Background and Objectives: Previous studies have demonstrated that risk of hip fracture is at least partly heritable. The aim of this study was to determine the magnitude of the genetic component of bone mineral density (BMD), using both X-ray and ultrasound assessment at multiple sites. Materials and Methods: 216 adult, healthy Hungarian twins (124 monozygotic, MZ, 92 dizygotic, DZ; mean age 54.2 ± 14.3 years), recruited from the Hungarian Twin Registry with no history of oncologic disease underwent cross-sectional BMD studies. We measured BMD, T- and Z-scores with dual energy X-ray absorptiometry (DEXA) at multiple sites (lumbar spine, femoral neck, total hip and radius). Quantitative bone ultrasound (QUS) was also performed, resulting in a calculated value of estimated bone mineral density (eBMD) in the heel bone. Heritability was calculated using the univariate ACE model. Results: Bone density had a strong genetic component at all sites with estimates of heritability ranging from 0.613 to 0.838 in the total sample. Lumbar BMD and calcaneus eBMD had major genetic components with estimates of 0.828 and 0.838 respectively, and least heritable (0.653) at the total hip. BMD of the radius had also a strong genetic component with an estimate of 0.806. No common environmental effect was found. The remaining variance was influenced by unique environment (0.162 to 0.387). In females only, slightly higher additive genetic estimates were found, especially in the case of the femoral neck and total hip. Conclusion: Bone mineral density is strongly heritable, especially in females at all locations using both DEXA and QUS, which may explain the importance of family history as a risk factor for bone fractures. Unshared environmental effects account for the rest of the variance with slight differences in magnitude across various bone regions, supporting the role of lifestyle in preventing osteoporotic fractures with various efficacy in different bone regions

    The prognostic role of ultrasound and magnetic resonance imaging in obstructive sleep apnoea based on lateral oropharyngeal wall obstruction

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    Purpose This study examined the prognostic value of the lateral pharyngeal wall (LPW)-based obstruction and obstructive sleep apnoea (OSA) prediction using ultrasound (US) and MRI (magnetic resonance imaging). Methods One hundred patients with and without OSA were enrolled, according to overnight polysomnography. The LPW thickness (LPWT) was measured using a Philips Ingenia 1.5 T MRI device, and US measurements were carried out at rest and during Müller’s manoeuvre (MM) with a Samsung RS85 device. The obstruction was localised under drug-induced sleep endoscopy. Results Significantly greater LPWT using MRI was observed in the OSA group compared to the control group, while US results showed a significant difference only in the case of LPWT during MM on the left side. Obese patients presented significantly higher LPWT values. A significant correlation between BMI and LPWT was observed. Men presented significantly higher LPWT MRI values and left-sided LPWT using US compared to women. LPWT and AHI parameters were significantly correlated. The severity of LPW obstruction correlated with LPWT, while the LPW collapse significantly correlated with AHI. The severity of LPW collapse differed depending on the AHI values. Using US LPWT values and anthropometric parameters, a 93% effectiveness in OSA prognostication and 89% in LPWT-based obstruction were detected. MRI detected OSA in 90% and LPW-based obstruction in 84%. US successfully detected LPW-based collapse severity in 67%. Conclusion US LPWT measurements were helpful in detecting OSA and LPWT-based obstruction. These examinations may be useful for surgical planning

    P121 Background of the Development of Carotid and Femoral Atherosclerotic Plaques in Twins

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    Abstract Introduction Development of carotid and femoral atherosclerotic plaques proved to be heritable in previous studies. However, no comprehensive ultrasonographic evaluation of the volume and types of plaque has been performed. Methods Comprehensive carotid and femoral arterial ultrasound examination (Samsung RS85, arterial analysis, 15 MHz probe) was performed in 92 Hungarian twins (54 monozygotic, MZ and 38 dizygotic, DZ twin pairs, mean age 54 ± 13 years). The volume of plaques was automatically measured, and the plaque type was grouped according to echogenicity. Raw heritability was evaluated using the Falconer formula. Results No heritability of the total number of carotid and femoral plaques and total plaque volume was detected. Although the number of carotid plaques themselves has been found to be hereditary (h2 = 0.492), the volume of carotid and femoral plaques as well as the number of femoral plaques were not heritable. More MZ twin pairs were discordant in the presence of soft plaques in the carotid artery as DZ twin pairs, but greater similarity in femoral plaques was not detected between MZ twins, which does not indicate a genetic background. The presence of calcified and mixed echogenic carotid plaques in the MZ twins was more concordant as in DZ twins, indicating inheritance. Conclusion The total number and volume of carotid and femoral plaques are influenced by the environment. Different plaque types have different backgrounds: while calcified and mixed echogenic carotid plaques are more affected by genetics, soft carotid and femoral plaques are more affected by the environment
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