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De novo mutations in the gene encoding transcription factor ZMIZ1, located on chromosome 10q22, were recently found to be associated with a novel neurodevelopmental syndrome [1]. In this case report we present a patient with developmental delay and Hirschsprung disease, who carries a de novo mutation in ZMIZ1. Utilizing public gene expression data from mouse we confirm that ZMIZ1 is indeed express
Purpose: The goal of this study was to determine the degree of consensus in the management of spinal cord tethering (TC) in patients with anorectal malformation (ARM) in a large cohort of European pediatric centers. Methods: A survey was sent to pediatric surgeons (one per center) members of the ARM-Net Consortium. Results: Twenty-four (86%) from ten different countries completed the survey. Overa
AIM: Information about healthy children's urinary tract symptoms is scarce but would be helpful in children with congenital urinary tract conditions. The aim of this study was to develop and evaluate a Lower Urinary Tract Dysfunction (LUTD) questionnaire.METHODS: A 15-item questionnaire based on definitions by the International Children's Continence Society (ICCS) about urinary tract function, was
Probabilistic building performance simulations enables a method for evaluating how the data quality used to create input models affects the accuracy of the predicted energy performance. The method described in this paper explores an uncertainty analysis of a fixed building design and system by including the discrepancy between the declared property of a product, material, or behaviour quantified u
South Korea’s past offers an example of an authoritarian context in which police roles proliferated. Besides maintaining order, police officers in Seoul were deployed for all sorts of purposes. Police were positioned as representatives of a state that had, in the 1960s and 1970s, ambitious plans for remaking society. Seoul’s large underclass posed, in the visions of City Hall and the central gover
Quantitative magnetic resonance imaging (qMRI) goes beyond conventional MRI, which aims primarily at local image contrast. It provides specific physical parameters related to the nuclear spin of protons in water, such as relaxation times. These parameters carry information about the local microstructural environment of the protons (such as myelin in the brain). Non- invasive in vivo histology usin
In Asia, the comprehensiveness of political finance systems and the level of implementation vary significantly across countries. This policy paper draws on the 2018 data of the International IDEA Political Finance Database and covers South Asia, South East Asia and East Asia. It investigates three key questions: What are the main corruption risks associated with the funding of political parties an
This dissertation argues that during the latter half of the long nineteenth century, colonial powers around the world co-produced a “global trans-imperial culture” that was facilitated by a common knowledge infrastructure, including international congresses, trans-imperial scholarly exchange and expositions. Japan was an important member of this “colonial club” and was deeply engaged with evolving
Drawing on the IR theories of norm translation and strategic narratives, this article focuses on how states translate international norms to their own advantage by producing strategic narratives to advance their soft power ambitions abroad. Using the example of Feminist Foreign Policy (FFP), the article compares Sweden, Canada, France, and Mexico in their attempts to translate international femini
This article situates Henrik Vigh’s concept of “chronic crisis” in social disaster research and humanitarian studies in order to explore how child survivors experience and address the prolonged consequences of disasters. The rationale for mobilising the concept of chronic crisis is that it opens up possibilities for exploring dynamics and multidimensionality of disasters and humanitarian responses
Several generations of French leaders had high expectations for French Indochina’s usefulness as a symbolic resource for unifying the nation after times of disaster, but in fact the colony time and again proved to be little more than a burden. This chapter explores how a variety of factors, not the least of which was poor planning on the part of the French métropole, dashed the high hopes French l
Understanding the character of natural organic matter (NOM) and assessing its impact on water quality is paramount for managers of catchments and water utilities. For drinking-water producers, NOM affects disinfectant demand and the formation of by-products which can have adverse health effects. NOM content in raw waters also has an impact on water treatment processes by increasing required coagul
It is well-recognized in historical scholarship that in both Japan and the West, expositions were an important site for the dissemination of colonial propaganda in the decades surrounding the turn of the twentieth century. Nevertheless, the question of how colonial themes were perceived and understood by visitors to these events remains largely unanswered in this literature. This essay reflects on
The preparation of oxygen reduction reaction (ORR) and hydrogen evolution reaction (HER) catalysts with high activity, stability and low platinum loading has always been the focus of research. The single-atom platinum supported catalyst greatly improves the utilization of platinum, but the catalytic activity and selectivity are greatly affected by the platinum coordination environment, and the pre
