Prenatal diagnosis of CLCN4-related neurodevelopmental disorder in fetuses with congenital brain anomalies

We report two male fetuses born to a healthy unrelated couple, with agenesis of the corpus callosum identified on detailed 20-week ultrasound scans and confirmed by in-utero MRI. Whole-genome sequencing identified a likely pathogenic missense variant in the CLCN4 gene, establishing this as the causative gene in the family. Pathogenic variants in the CLCN4 gene cause a neurodevelopmental disorder (also called Raynaud-Claes syndrome) inherited in an X-linked pattern. The disorder is characterised by developmental delay, intellectual disability, autism spectrum disorder, epilepsy, mental health conditions, and significant feeding difficulties, predominantly, but not exclusively, affecting males. This is the first report of a prenatal phenotype associated with variants in the CLCN4 gene. The diagnosis of the CLCN4-related neurodevelopmental disorder in this family allowed accurate genetic counseling and discussion of reproductive choices. This leaves uncertainty about the possibility of a postnatal neurodevelopmental phenotype in heterozygous females, which we discuss.     

Integrating local and scientific knowledge for environmental management

This paper evaluates the processes and mechanisms available for integrating different types of knowledge for environmental management. Following a review of the challenges associated with knowledge integration, we present a series of questions for identifying, engaging, evaluating and applying different knowledges during project design and delivery. These questions are used as a basis to compare three environmental management projects that aimed to integrate knowledge from different sources in the United Kingdom, Solomon Islands and Australia. Comparative results indicate that integrating different types of knowledge is inherently complex – classification of knowledge is arbitrary and knowledge integration perspectives are qualitatively very different. We argue that there is no single optimum approach for integrating local and scientific knowledge and encourage a shift in science from the development of knowledge integration products to the development of problem-focussed, knowledge integration processes. These processes need to be systematic, reflexive and cyclic so that multiple views and multiple methods are considered in relation to an environmental management problem. The results have implications for the way in which researchers and environmental managers undertake and evaluate knowledge integration projects.     

The NAMEA as Validation Instrument for Environmental Macroeconomics

This paper shows how environmental issues can be incorporated into macroeconomic accounting and analysis by the construction and use of a National Accounting Matrix including Environmental Accounts (NAMEA). The paper firstly elaborates on a number of conceptual issues on the harmonisation of environmental statistics and the national accounts. Specific attention is given to the consistent allocation of pollution to production and consumption activities and the importance of aggregated environmental indicators. Further, various applications are presented which vary from simple comparisons of macroeconomic performance indicators for economy and environment to more comprehensive modelling exercises. The paper does not only review recent experiences in the Netherlands but also those from other countries.     

Multi-hazard, multi-infrastructure, economic scenario analysis

Over the past 10 years, the National Infrastructure Simulation and Analysis Center (NISAC) has conducted over 150 detailed multi-hazard, multi-infrastructure scenario analyses of a wide range of man-made and natural disasters. Using a model-based implementation of the Department of Homeland Security risk management framework, NISAC analyzes scenarios ranging from extreme-event situational awareness to long-term strategic policy for improved homeland security and resilience to these events. This article describes the essential elements of the NISAC scenario analysis process, the toolkit of subject-matter expertise and models used, with a particular focus on the economics component. An example set of Hurricane Katrina economic-analysis results is used to illustrate basic elements of NISAC economics scenario analysis.     

Cultivating food as a right to the city

This paper argues that there is much to be gained when we view struggles to cultivate food in the city through the lens of Henri Lefebvre's concept of the right to the city. Lefebvre's idea helps us better perceive the radical political and ecological potential of those struggles. And in the empirical details of the struggles we can see concretely the key action in Lefebvre's concept, an action that is only abstract in his work: urban inhabitants becoming active and producing and managing space for themselves.