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Newbornscreening SMA - from Pilot Project to Nationwide Screening in Germany
Abstract: Now that targeted therapies for spinal muscular atrophy are available, attempts are being made worldwide to include screening for spinal muscular atrophy in general newborn screening. In Germany, after pilot projects from 2018-2021, it was included in the general newborn screening from October 2021. To ensure a smooth transition, criteria for follow-up were developed together with key stakeholders. At the beginning of the transition to nationwide screening, false positive findings were reported in 3 patients. After optimization of the screening method in the laboratories concerned, all findings have been subsequently confirmed. On average, the first presentation to a neuromuscular center occurred on day 12 of life, and in patients with 2 or 3 SMN2 copies, therapy started on day 26 of life. Compared with the pilot project, there was no significant delay in timing
Molecular Based Newborn Screening in Germany: Follow-up for Cystinosis
Abstract: Background Newborn screening (NBS) programs for treatable metabolic disorders have been enormously successful, but molecular-based screening has not been broadly implemented so far. Methods This prospective pilot study was performed within the German NBS framework. DNA, extracted from dried blood cards was collected as part of the regular NBS program. As cystinosis has a prevalence of only 1:100,000-1:200,000, a molecular genetic assay for detection of the SMN1 gene mutation with a higher prevalence was also included in the screening process, a genetic defect that leads to spinal muscular atrophy (SMA). First tier multiplex PCR was employed for both diseases. The cystinosis screeni...
Katharina Hinsberg
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Shulamit and Margarete
Shulamit and Margarete takes a microhistorical look at a small village on the border of Germany and France in the eighteenth century. Drawing on the rich source material of the village, it casts a searching light on the boundaries created by language, states, religions, cultures, sex, and gender. By writing the history of the village from multiple perspectives, the author is able to uncover fascinating artefacts of a cultural contact between Christians and Jews, and to gain insights into the agency and experiences of women in rural society. The book is enhanced by a variety of sources and illustrations relating to Jewish history, such as the last will of Abraham Levy and the previously unknown portraits of Fromette Levy and Bernard Lipmann.
Neighbors and Neighborhoods
Neighbors and Neighborhoods: Living Together in the German-Speaking World is a bilingual collection of nine essays on culture, film, language, literature, and theory. The essays in this collection address questions of community and cohesion in the modern German-speaking world, a complex sociolinguistic community that is no longer defined by territorial boundaries but that remains, in many respects, a neighborhood. How can neighborliness be possible for this world in an age of mass migration and increasing globalization? Given the fluidity of modern identity, what could make communities uniform, harmonious, or even cohesive, if they can be created and dissolved in an instant? To what extent d...
River of Destiny
This is the English translation of the German original 'Gratwanderung'. the story of my Moselle wine-making family. I try to tell German history - predominantly of the 19th and 20th century - by the example of one family in one village. Since the Moselle is a border region, there are a number of connections to other countries, namely France. Foreign readers may learn how and why the Nazi-ideology was able to gain support and to what sort of conflicts that lead, dividing whole families. Probably the most exciting part of the book is when I describe how my grandfather helped a shot down American airman and what consequenses that had for him. The story also allows deep insights into the rural life before WWI, when Germany was still a monarchy and one of my relatives was serving at the court of a local aristocrat. The personal stories are rounded up by some factual chapters, for example about the Roman heritage of the region, the fate of the small Jewish community, the role of the wine and some famous persons from the Moselle.
The Lost Honor of Katharina Blum
A young woman's association with a hunted man makes her the target of a journalist determined to grab headlines by portraying her as an evil woman. As the attacks on her escalate and she becomes the victim of anonymous threats, Katharina sees only one way out of her nightmare.
Blood and Village
At once a mystery of detection, a family history, and a rite of passage, Blood and Village traces the lives of the author's parents from the closing years of the 19th century in a small South German town to the New York neighborhoods where they raised their family. Why did they leave their bucolic village, the author asks, why them and so few others? In what sense did the village die after they left? And in having left, why did the village still have such a hold over them all their lives? In his search for some answers, the author delves into the social history of this Swabian village and describes his own return to its people, vineyards, pastures, and orchards. Along the way he ruminates on his father's World War I service and on his mother's trip back to the village in the turbulent summer of 1934, on his life in the 1940s and 1950s as a first-generation American, and on how the U.S. Navy and his research interests in physics brought him back to the village of his parents.
Hospitality and Hostility in the Multilingual Global Village
"This interdisciplinary, international, and multi-lingual collection of essays explores a broad range of issues related to hospitality and hostility, in literary and cultural contexts from antiquity to the present. Insightful theoretical and historical discussions undergird richly detailed particular studies. The central focus unifies the diverse pieces, which are original, well-researched and reasoned, and clearly written. A solid contribution to scholarship in several fields (including linguistics, anthropology and Internet culture), the volume is also enjoyable to read. Its lively and appealing pieces on recent novels and contemporary trends lend a fresh and contemporary feel." -ÿProf. Pamela S. Saur, Lamar University, Texas
The Astronomer & the Witch
In The Astronomer and the Witch, Ulinka Rublack pieces together the tale of this extraordinary episode in Kepler's life, one that takes us to the heart of his changing world.
