620 research outputs found
Quality assessment of prenatal cytogenetic diagnosis : some guidelines for handling amniotic fluid and chorionic villus material
No full textOngeveer 1 op de 200 baby's wordt geboren met een chromosoomafwijking. De gevolgen daarvan kunnen sterk uiteenlopen, van verwaarloosbaar (het kind zal er in zijn of haar ontwikkeling geen last van ondervinden) tot aan 'niet levensvatbaar'. Veel chromosomale afwijkingen blijken gepaard te gaan met hartafwijkingen, ontwikkelingsachterstand en uiterlijke bijzonderheden.
Zie: Samenvatting
Quality assessment of prenatal cytogenetic diagnosis:some guidelines for handling amniotic fluid and chorionic villus material
No full textOngeveer 1 op de 200 baby's wordt geboren met een chromosoomafwijking. De gevolgen daarvan kunnen sterk uiteenlopen, van verwaarloosbaar (het kind zal er in zijn of haar ontwikkeling geen last van ondervinden) tot aan 'niet levensvatbaar'. Veel chromosomale afwijkingen blijken gepaard te gaan met hartafwijkingen, ontwikkelingsachterstand en uiterlijke bijzonderheden. Zie: Samenvattin
Quality assessment of prenatal cytogenetic diagnosis:some guidelines for handling amniotic fluid and chorionic villus material
No full textOngeveer 1 op de 200 baby's wordt geboren met een chromosoomafwijking. De gevolgen daarvan kunnen sterk uiteenlopen, van verwaarloosbaar (het kind zal er in zijn of haar ontwikkeling geen last van ondervinden) tot aan 'niet levensvatbaar'. Veel chromosomale afwijkingen blijken gepaard te gaan met hartafwijkingen, ontwikkelingsachterstand en uiterlijke bijzonderheden. Zie: Samenvattin
Mirror Landing - As Remembered by Birgit Hult
No full textNotes - This account, Memories Mirror Landing by Birgit Hult, was compiled by Birgit's daughter, Jean Elvira Male, it documents the Hult family's experiences in Mirror Landing from 1912 - 1916. The Hults, who were originally from Sweden, arrived in Mirror Landing with two young children, a third child was born during their stay in Mirror Landing. Upon arriving in the area, the Hults made friends with the Gauthier family. The wives became good friends and would swap piano lessons for English lessons. Details of the log home where the family lived and the surrounding landscape were recalled. A memory about a large forest fire that occurred near the family home and dances that were attended in the town are discussed. Jean recalls her mother's memories regarding the animosity towards the North West Mounted Police that was felt by the people of Mirror Landing. The Hult family retained a strong connection to the Swedish heritage and practised many Swedish traditions, such as flying the Swedish flag and eating hot cross buns stuffed with Swedish Marzipan soaked in warm milk. Photos and a postcard written in 1915 are included in this article (10 pages
The Introduction of Arrays in Prenatal Diagnosis: A Special Challenge
No full textGenome-wide arrays are rapidly replacing conventional karyotyping in postnatal cytogenetic diagnostics and there is a growing request for arrays in the prenatal setting. Several studies have documented 1-3% additional abnormal findings in prenatal diagnosis with arrays compared to conventional karyotyping. A recent meta-analysis demonstrated that 5.2% extra diagnoses can be expected in fetuses with ultrasound abnormalities. However, no consensus exists as to whether the use of genome-wide arrays should be restricted to pregnancies with ultrasound abnormalities, performed in all women undergoing invasive prenatal testing or offered to all pregnant women. Moreover, the interpretation of array results in the prenatal situation is challenging due to the large numbers of copy number variants with no major phenotypic effect. This also raises the question of what, or what not to report, for example, how to deal with unsolicited findings. These issues were discussed at a working group meeting that preceded the European Society of Human Genetics 2011 Conference in Amsterdam. This article is the result of this meeting and explores the introduction of genome-wide arrays into routine prenatal diagnosis. We aim to give some general recommendations on how to develop practical guidelines that can be implemented in the local setting and that are consistent with the emerging international consensus. Hum Mutat 33: 923-929, 2012. (C) 2012 Wiley Periodicals, Inc
Knowing Through Popular Music in the Western Pacific Island World
No full textPacific Indigenous scholars have long emphasized the role of relationality for Pacific Islanders’ epistemologies. In this article, the author rethinks music in terms of the procedural knowledge inherent in and specific to popular music-making by exploring the latter as knowledge practices in Micronesia. This approach opens new vistas on the relationality at the heart of Western Pacific music-making. The author calls the musical manifestation of that relational capacity sound ties, suggesting that if, following Epeli Hau‘ofa, Oceania is “humanity rising from the depths of brine”, then it is not least the sound ties of knowing in and through music that mould that very humanity of people who are at home with the sea into aquapelagic assemblages that are, after all, so much more than water and land
Looking through the noise: novel algorithms for genetic variant detection
No full textIn patients whose DNA is tested for genetic conditions it is a challenge to correctly identify genetic variants within the large amount of DNA sequence data that is generated in such tests. In the research for this thesis, various tools and algorithms were developed to better detect these variants and help increase the diagnostic yield of tests, giving more often a clear answer to diagnostic questions. Typically, in modern diagnostic DNA tests, data is generated that also contains information on risk for development of disorders unrelated to the reason for testing and often not present in the family. Actively searching for that information and sharing it with patients is referred to as opportunistic screening, and is not routinely performed in the Netherlands. More than 2,000 patients were anonymously screened to find out what the results would be if we would offer screening as an additional service in patients receiving genetic testing for a specific type of familial cancer. The research showed that over three percent of them carried a gene variant that predisposed them to other cancer types. A similar percentage was found in the general population. Opportunistic screening might potentially be life-saving. However, it is unclear what the actual risks are for individuals with inherited predisposition for cancer types that have not (yet) occurred in their families. Because of this, the benefits for opportunistic screening for cancer predisposition are unclear and there is clearly need for further study
EU-Behörde: Warum wir sie brauchen
No full textJan Cremers (UvT) contributed to the magazine Gute Arbeit (in German), published by BUND-Verlag. Together with co-author Birgit Krämer, he discusses the plans of the European Commission to introduce a European Labour Authority. They reflect on the possible contribution of such a body in checking respect for and compliance with labour legislation and conventional standards
Rude Girl de Birgit Weyhe et Priscilla Layne, une "ré-appropriation culturelle" à quatre mains ?
No full textInternational audienceThis article analyses the graphic novel Rude Girl (2022), a drawn (self-)portrait created collaboratively by Priscilla Layne, an African American of Caribbean descent and professor of German Studies, and Birgit Weyhe, a German comic book author. The work is first presented within the general context of Birgit Wehye’s albums, a former student of Anke Feuchtenberger and winner of the Max-und-Moritz Prize, in order to highlight some characteristics of how the author has thus far addressed cultural differences, including in the albums that recounted her ‘German’ childhood in Uganda and Kenya. The article then reexamines the controversy surrounding the album Madgermanes, perceived as ‘cultural appropriation’ by American Germanists. This controversy is revisited here in light of Priscilla Layne's publications, notably her book White Rebels in Black: German Appropriation of Black Popular Culture (2018), as well as her numerous reviews in the field of Black Studies and her translation of Olivia Wenzel's 1000 Serpentinen Angst. A thorough analysis of Rude Girl ultimately reveals a shift in the representation of cultural otherness, particularly through the means of (auto)biographical co-construction.Cet article analyse le roman graphique Rude girl (2022), (auto-)portrait dessiné, réalisé à quatre mains par Priscilla Layne, Afro-américaine d’origine caribéenne et professeure en études germaniques, et Birgit Weyhe, autrice allemande de bandes dessinées. L’oeuvre est d’abord replacée dans le contexte général des albums de Birgit Weyhe, élève d’Anke Feuchtenberger et lauréate du Prix Max-und-Moritz, pour dégager quelques caractéristiques de la façon dont l’autrice accueillait jusque-là la différence culturelle, y compris dans les albums qui faisaient le récit de son enfance « allemande » en Ouganda et au Kenya. L’article revient ensuite sur la polémique suscitée par l’album Madgermanes, perçu comme « appropriation culturelle » par les germanistes américains, polémique qui est ici revisitée à la lumière des publications de Priscilla Layne, notamment son ouvrage White Rebels in Black : German Appropriation of Black Popular Culture (2018), mais aussi ses nombreuses recensions dans le domaine des Black Studies, et sa traduction d’Olivia Wenzel, 1000 Serpentinen Angst. L’analyse approfondie de Rude girl permet finalement de mettre en évidence une césure dans la représentation de l’altérité culturelle, notamment par les moyens de la co-construction (auto-)biographique
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