scholarly journals Mosaicism in clinical genetics

2021 ◽  
Vol 7 (6) ◽  
pp. a006162
Author(s):  
Heather C. Mefford

Genetic mosaicism is the state in which there are two or more different sets of cells in a single individual because of one or more postzygotic mutations, and its importance in clinical genetics has long been recognized (Hall, Am J Hum Genet43: 355 [1988]). In this Perspective, a paper in this special issue on mosaicism from Cook et al. (Cold Spring Harb Mol Case Studies7: a006125 [2021]) is discussed.

2017 ◽  
Vol 4 (2) ◽  
pp. 151-166
Author(s):  
André Laliberté

In this essay, I present the concepts of religious resistance and contentious politics, in which religions represent a source of inspiration, before moving to the issue of how these concepts apply to China. I note that there is little literature on this particular subject, which is always politically sensitive. As the Communist Party of China has increasingly recognized the relevance of religion in contemporary society, it has tried to keep it in check and thereby ensure that independent associations with a religious background will not become involved in contentious politics. This article then briefly introduces the four case studies in this special issue on the theme of religion and contentious politics in China: two cases of persecution of Christians and Catholics during the period of Mao, and two articles about Buddhism, which has a more complex relationship with the state.本文首先阐述了宗教抵抗与抗争政治的概念—其中宗教发挥了启发鼓舞的作用而后将之用于分析中国经验。由于政治敏感性,有关此议题的文献很少。因为逐渐意识到宗教在当代社会中的重要性,中国共产党试图管控宗教防止具有宗教背景的独立团体参与抗争政治。本文最后介绍本期中有关中国宗教与抗争政治的四篇个案研究:两篇文章讨论毛泽东时期对基督徒和天主教徒的压迫,另外两篇是关于佛教及其与国家的复杂关系。


2021 ◽  
Vol 7 (6) ◽  
pp. a006163
Author(s):  
Leslie G. Biesecker

Two papers in this special issue of Cold Spring Harbor Molecular Case Studies on Mosaicism throw light on an interesting conundrum in mosaic disorders. This conundrum centers on thresholds for the definition of mosaic disorders and how to reconcile the incredible inter- and intrapatient variability of mosaic disorders with the clinical imperative to have clear and distinct categorical diagnoses.


2020 ◽  
Vol 31 (2) ◽  
pp. 93-96
Author(s):  
Michael Kelly

This article introduces the special issue of the journal on France as a Laboratory of Culture. It asks whether France continues to foster creativity and innovation in the cultural realm. Six articles examine case studies, including the role of women in the making of modern Paris, France’s role in world cinema through international co-production, French conceptions of world literature, recent fictional works by Alice Zeniter and Bessora, the rapper Abd al Malik as a complex example of hybrid music, and the state-funded project to create ÉcoQuartiers, or green neighbourhoods. These examples provide challenges to the way things are, whether in changing behaviours, tastes, perceptions or understandings, and demonstrate convincingly that France remains a vibrant laboratory of culture in the modern world.


Water ◽  
2020 ◽  
Vol 12 (11) ◽  
pp. 3100
Author(s):  
Erik Mosselman

This editorial regards a Special Issue of Water on river training. It introduces five papers in a framework of history, fundamentals, case studies and future. Four papers result from decades of experience with innovation, planning, design and implementation of river training works on rivers in Colombia, the Rhine branches in the Netherlands and the Brahmaputra-Jamuna River in Bangladesh. A fifth paper reviews the state-of-the-art in predicting and influencing the formation and behavior of river bars. The editorial argues that the future lies in more flexible river training, using a mix of innovative permanent structures and recurrent interventions such as dredging, sediment nourishment, vegetation management and low-cost temporary structures.


Commonwealth ◽  
2017 ◽  
Vol 19 (1) ◽  
Author(s):  
Christopher Borick

“An Introduction to the Special to the Special Issue on Energy and the Environment” provides an overview of the state of the literature relating to Pennsylvania in these areas of public policy. It then introduces each of the articles in this issue of the journal. 


Author(s):  
Holly Lawford-Smith

Given their size and influence, states are able to inflict harm far beyond the reach of a single individual. But there is a great deal of unclarity about exactly who is implicated in that kind of harm, and how we should think about both culpability and responsibility for it. The idea of popular sovereignty is dominant in classical political theory. It is a commonplace assumption that democratic publics both authorize and have control over what their states do; that their states act in their name and on their behalf. Not In Their Name approaches these assumptions from the perspective of social metaphysics, asking whether the state is a collective agent, and whether ordinary citizens are members of that agent. If it is, and they are, there is a clear case for democratic collective culpability. The book explores alternative conceptions of the state and of membership in the state; alternative conceptions of collective agency applied to the state; the normative implications of membership in the state; and both culpability (from the inside) and responsibility (from the outside) for what the state does. Ultimately, Not In Their Name argues for the exculpation of ordinary citizens and the inculpation of those working in public services, and defends a particular distribution of culpability from government to its members.


2021 ◽  
pp. 002200272110130
Author(s):  
Kristine Eck ◽  
Courtenay R. Conrad ◽  
Charles Crabtree

The police are often key actors in conflict processes, yet there is little research on their role in the production of political violence. Previous research provides us with a limited understanding of the part the police play in preventing or mitigating the onset or escalation of conflict, in patterns of repression and resistance during conflict, and in the durability of peace after conflicts are resolved. By unpacking the role of state security actors and asking how the state assigns tasks among them—as well as the consequences of these decisions—we generate new research paths for scholars of conflict and policing. We review existing research in the field, highlighting recent findings, including those from the articles in this special issue. We conclude by arguing that the fields of policing and conflict research have much to gain from each other and by discussing future directions for policing research in conflict studies.


Author(s):  
Carlos E. Prada ◽  
Denise Cavalcanti ◽  
Ida Vanessa Doederlein Schwartz ◽  
Yuri A. Zarate

2017 ◽  
Vol 3 (1) ◽  
pp. 1 ◽  
Author(s):  
Mikiyasu Nakayama ◽  
Nicholas Nicholas Bryner ◽  
Satoru Mimura

This special issue features policy priorities, public perceptions, and policy options for addressing post-disaster return migration in the United States, Japan, and a couple of Asian countries. It includes a series of case studies in these countries, which are based on a sustained dialogue among scholars and policymakers about whether and how to incentivize the return of displaced persons, considering social, economic, and environmental concerns. The research team, composed of researchers from Indonesia, Japan, Sri Lanka, and the United States, undertook a collaborative and interdisciplinary research process to improve understanding about how to respond to the needs of those displaced by natural disasters and to develop policy approaches for addressing post-disaster return. The research focused on the following three key issues: objectives of return migration (whether to return, in what configuration, etc.), priorities and perceptions that influence evacuees’ decision-making regarding return, and policies and practices that are used to pursue return objectives. This special issue includes ten articles on the following disaster cases: the Great East Japan Earthquake in 2011, Hurricane Katrina in 2005 and Hurricane Sandy in 2012, the Great Indian Ocean Tsunami in 2004, and the Great Sumatra Island Earthquake in 2009. Important lessons for the future were secured out of these case studies, covering the entire phase of return, namely planning, implementation, and monitoring.


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