Novel CACNA1A mutation(s) associated with slow saccade velocities

Mutations in the voltage-gated Cav2.1 P/Q-type calcium channel (CACNA1A) can cause a wide spectrum of phenotypes, including the episodic ataxia type 2. Beside the growing number of descriptions of novel CACNA1A mutations with episodic ataxia type 2 phenotype; there are only rare reports on interictal oculomotor signs other than nystagmus. We describe a novel CACNA1A mutation and an unclassified CACNA1A in-frame variant in a Swiss family presenting as the episodic ataxia type 2 phenotype associated with reduced saccade velocity. In this case series interictal clinical examination showed only minimal neurological findings as mild limb ataxia and nystagmus, but most interestingly saccade analysis of all three affected individuals demonstrated reduced mean saccade velocity. Genetic testing of CACNA1A revealed a de novo frame-shift mutation (c.2691dupC/p.Thyr898Leufs*170) in the index patient in addition to an unclassified in-frame variant (c.6657_6659dupCCA/p.His2220dup) segregating in all three affected individuals. The de novo frame-shift CACNA1A mutation and the unclassified in-frame CACNA1A variant were associated with the episodic ataxia type 2 phenotype and reduced mean saccade velocity, which suggests involvement of brainstem or neural pathways connecting brainstem and the cerebellum in this diseas

Ethnographies of Power

What does it mean to work with radical concepts in our time of rampant inequality, imperial-capitalist plunder, racial/sexual/class violence and ecocide? When concepts from the past seem inadequate, how do scholars and activists concerned with social change decide what concepts to work with or renew? The contributors to Ethnographies of Power address these questions head on. Gillian Hart is a key thinker in radical political economy, geography, development studies, agrarian studies and Gramscian critique of postcolonial capitalism. In Ethnographies of Power each contributor engages her work and applies it to their own field of study. These applied concepts include: ‘gendered labour’ practices among South African workers, reading ‘racial capitalism’ through agrarian debates, using ‘relational comparison’ in an ethnography of schooling across Durban, reworking ‘multiple socio-spatial trajectories’ in Guatemala’s Maya Biosphere Reserve, critiquing the notion of South Africa’s ‘second economy’, revisiting ‘development’ processes and ‘Development’ discourses in US military contracting, reconsidering Gramsci’s ‘conjunctures’ geographically, finding divergent ‘articulations’ in Cape Town land occupations, and exploring ‘nationalism’ as central to revaluing recyclables at a Soweto landfill. Ethnographies of Power offers an invaluable toolkit for activists and scholars engaged in sharpening their critical concepts for the social and environmental change necessary for our collective future

Tracers as Essential Tools for the Investigation of Physical and Chemical Processes in Groundwater Systems

In complex environmental systems, tracers are indispensable tools for the investigation of various physical, chemical, and biological processes. From the large variety of tracers employed by EAWAG in the aquatic environment, we present some examples relevant to groundwater research. Some tracers (e.g., 222Rn, 3H/3He, chlorofluorocarbons) allow the time since groundwater infiltration to be determined; this information can be used to quantify process rates such as flow velocities, recharge and reaction rates. Other tracers (e.g., conductivity, isotopes of oxygen or boron) can be used to quantify mixing ratios between waters of different origin, for instance, to study the admixture of leachate from a landfill to an aquifer. In contrast to these inert tracers, chemically reactive tracers (e.g., nitroaromatic compounds) can be used to study subsurface biogeochemical transformation processes, e.g. the reduction of contaminants under anaerobic conditions. The successful use of tracers in the study of environmental systems requires highly developed analytical facilities for a broad palette of tracer measurements and a careful choice of appropriate tracers for each specific problem

Theta burst stimulation reduces disability during the activities of daily living in spatial neglect

Left-sided spatial neglect is a common neurological syndrome following right-hemispheric stroke. The presence of spatial neglect is a powerful predictor of poor rehabilitation outcome. In one influential account of spatial neglect, interhemispheric inhibition is impaired and leads to a pathological hyperactivity in the contralesional hemisphere, resulting in a biased attentional allocation towards the right hemifield. Inhibitory transcranial magnetic stimulation can reduce the hyperactivity of the contralesional, intact hemisphere and thereby improve spatial neglect symptoms. However, it is not known whether this improvement is also relevant to the activities of daily living during spontaneous behaviour. The primary aim of the present study was to investigate whether the repeated application of continuous theta burst stimulation trains could ameliorate spatial neglect on a quantitative measure of the activities of daily living during spontaneous behaviour. We applied the Catherine Bergego Scale, a standardized observation questionnaire that can validly and reliably detect the presence and severity of spatial neglect during the activities of daily living. Eight trains of continuous theta burst stimulation were applied over two consecutive days on the contralesional, left posterior parietal cortex in patients suffering from subacute left spatial neglect, in a randomized, double-blind, sham-controlled design, which also included a control group of neglect patients without stimulation. The results showed a 37% improvement in the spontaneous everyday behaviour of the neglect patients after the repeated application of continuous theta burst stimulation. Remarkably, the improvement persisted for at least 3 weeks after stimulation. The amelioration of spatial neglect symptoms in the activities of daily living was also generally accompanied by significantly better performance in the neuropsychological tests. No significant amelioration in symptoms was observed after sham stimulation or in the control group without stimulation. These results provide Class I evidence that continuous theta burst stimulation is a viable add-on therapy in neglect rehabilitation that facilitates recovery of normal everyday behaviou

Theta burst stimulation reduces disability during the activities of daily living in spatial neglect

Left-sided spatial neglect is a common neurological syndrome following right-hemispheric stroke. The presence of spatial neglect is a powerful predictor of poor rehabilitation outcome. In one influential account of spatial neglect, interhemispheric inhibition is impaired and leads to a pathological hyperactivity in the contralesional hemisphere, resulting in a biased attentional allocation towards the right hemifield. Inhibitory transcranial magnetic stimulation can reduce the hyperactivity of the contralesional, intact hemisphere and thereby improve spatial neglect symptoms. However, it is not known whether this improvement is also relevant to the activities of daily living during spontaneous behaviour. The primary aim of the present study was to investigate whether the repeated application of continuous theta burst stimulation trains could ameliorate spatial neglect on a quantitative measure of the activities of daily living during spontaneous behaviour. We applied the Catherine Bergego Scale, a standardized observation questionnaire that can validly and reliably detect the presence and severity of spatial neglect during the activities of daily living. Eight trains of continuous theta burst stimulation were applied over two consecutive days on the contralesional, left posterior parietal cortex in patients suffering from subacute left spatial neglect, in a randomized, double-blind, sham-controlled design, which also included a control group of neglect patients without stimulation. The results showed a 37% improvement in the spontaneous everyday behaviour of the neglect patients after the repeated application of continuous theta burst stimulation. Remarkably, the improvement persisted for at least 3 weeks after stimulation. The amelioration of spatial neglect symptoms in the activities of daily living was also generally accompanied by significantly better performance in the neuropsychological tests. No significant amelioration in symptoms was observed after sham stimulation or in the control group without stimulation. These results provide Class I evidence that continuous theta burst stimulation is a viable add-on therapy in neglect rehabilitation that facilitates recovery of normal everyday behaviour

Geosciences Roadmap for Research Infrastructures 2025 - 2028 by the Swiss Geosciences Community

This roadmap is the product of a grassroots effort by the Swiss Geosciences community. It is the first of its kind, outlining an integrated approach to research facilities for the Swiss Geosciences. It spans the planning period 2025-2028. Swiss Geoscience is by its nature leading or highly in-volved in research on many of the major national and global challenges facing society such as climate change and meteorological extreme events, environmental pol-lution, mass movements (land- and rock-slides), earth-quakes and seismic hazards, global volcanic hazards, and energy and other natural resources. It is essential to under- stand the fundamentals of the whole Earth system to pro-vide scientific guidelines to politicians, stakeholders and society for these pressing issues. Here, we strive to gain efficiency and synergies through an integrative approach to the Earth sciences. The research activities of indivi- dual branches in geosciences were merged under the roof of the 'Integrated Swiss Geosciences'. The goal is to facilitate multidisciplinary synergies and to bundle efforts for large research infrastructural (RI) requirements, which will re-sult in better use of resources by merging sectorial acti- vities under four pillars. These pillars represent the four key RIs to be developed in a synergistic way to improve our understanding of whole-system processes and me- chanisms governing the geospheres and the interactions among their components. At the same time, the roadmap provides for the required transition to an infrastructure adhering to FAIR (findable, accessible, interoperable, and reusable) data principles by 2028.The geosciences as a whole do not primarily profit from a single large-scale research infrastructure investment, but they see their highest scientific potential for ground-break-ing new findings in joining forces in establishing state-of-the-art RI by bringing together diverse expertise for the benefit of the entire geosciences community. Hence, the recommendation of the geoscientific community to policy makers is to establish an integrative RI to support the ne- cessary breadth of geosciences in their endeavor to ad-dress the Earth system across the breadth of both temporal and spatial scales. It is also imperative to include suffi-cient and adequately qualified personnel in all large RIs. This is best achieved by fostering centers of excellence in atmospheric, environmental, surface processes, and deep Earth projects, under the roof of the 'Integrated Swiss Geosciences'. This will provide support to Swiss geo-sciences to maintain their long standing and internatio- nally well-recognized tradition of observation, monitor-ing, modelling and understanding of geosciences process-es in mountainous environments such as the Alps and beyond

Peripheries against peripheries : against spatial reification

International audienceProviding a systematic overview of large-scale housing projects, Massive Suburbanization investigates the building and rebuilding of urban peripheries on a global scale. Offering a universal inter-referencing point for research on the dynamics of "massive suburbia," this book builds a new discussion pertaining to the problems of the urban periphery, urbanization, and the neoliberal production of space.Conceptual and empirical chapters revisit the classic cases of large-scale suburban building in Canada, the former Czechoslovakia, France, Germany, and the United States and examine the new peripheral estates in China, Egypt, Israel, Morocco, the Philippines, South Africa, and Turkey. The contributors examine a broad variety of cases that speak to the building or redevelopment of large-scale peripheral housing estates, tower neighbourhoods, Grands Ensembles, Groβwohnsiedlungen, and Toplu Konut. Concerned with state and corporate policy for building suburban estates, Massive Suburbanization confronts the politics surrounding local inhabitants and their "right to the suburb.

The Times and Spaces of Right Populism: From Paris to Toronto

Our focus is on the current manifestations and the historic and geographical formation of the organizations, ideologies, think tanks, intellectuals and governing regimes of political parties that we would characterize as rightwing or authoritarian populist. In France, this is the FN and hard-right populist currents in the UMP and, prior to 2002, its predecessor organization, the Rally for the Republic (Rassemblement pour la République – RPR). In Canada, this is a focus on the Reform Party, right-populist currents in the Progressive Conservative Party, and, after 2003, the new Conservative Party of Canada which united the two. In deploying the language of authoritarian populism, our intention is not to lose sight of the specifically fascist elements one may find within the wider orbit of hard-right populism. Nor is it our goal to echo liberal bourgeois intellectuals and pundits, for whom ‘populism’ can be a convenient term to dismiss left challenges to neoliberal orthodoxies by equating them with fascist or ultra-right forces