A Female Patient with Down Syndrome and Low-Penetrance Leber's Hereditary Optic Neuropathy.

We present the case of a 19-year-old female with a history of Down syndrome (DS) who was referred to our neuro-ophthalmology clinic for evaluation of Leber's hereditary optic neuropathy (LHON). The patient's family history was significant for a known G11778A mutation in a maternal relative, consistent with LHON. The patient was also positive for the G11778A mutation; however, the genotype demonstrated low penetrance in the pedigree, with only 1 out of 10 adult male offspring showing signs or symptoms of the disease. Mitochondrial mutations implicated in LHON have been shown to impair complex I of the electron transport chain and thereby reducing the effective generation of adenosine triphosphate and increasing the production of toxic reactive oxygen species. Although the partial or complete triplicate of chromosome 21 constitutes the etiology of DS, some of the pleiotropic phenotypes of the syndrome have been attributed to oxidative stress and mitochondrial dysfunction. Given the low penetrance of the mutation and the patient's sex, this case illustrates the possibility that the mitochondrial mutation demonstrated increased penetrance due to pre-existing mitochondrial dysfunction related to DS

Smallholder Farmers in Rural Uganda

Gunning, J.W. [Promotor]Elbers, C.T.M. [Copromotor

Angioarchitectural evolution of clival dural arteriovenous fistulas in two patients.

Dural arteriovenous fistulas (dAVFs) may present in a variety of ways, including as carotid-cavernous sinus fistulas. The ophthalmologic sequelae of carotid-cavernous sinus fistulas are known and recognizable, but less commonly seen is the rare clival fistula. Clival dAVFs may have a variety of potential anatomical configurations but are defined by the involvement of the venous plexus just overlying the bony clivus. Here we present two cases of clival dAVFs that most likely evolved from carotid-cavernous sinus fistulas

From correlation to causation: the cruciality of a collectivity in the context of collective action

This paper discusses a longitudinal field study on collective action which aims to move beyond student samples and enhance mundane realism. First we provide a historical overview of the literature on the what (i.e., antecedents of collective action) and the how (i.e., the methods employed) of the social psychology of protest. This historical overview is substantiated with meta-analytical evidence on how these antecedents and methods changed over time. After the historical overview, we provide an empirical illustration of a longitudinal field study in a natural setting―a newly-built Dutch neighbourhood. We assessed changes in informal embeddedness, efficacy, identification, emotions, and grievances over time. Between t0 and t1 the residents protested against the plan to allow a mosque to carrying out their services in a community building in the neighbourhood. We examined the antecedents of protest before [t0] and after [t1] the protests, and whether residents participated or not. We show how a larger social network functions as a catalyst in steering protest participation. Our longitudinal field study replicates basic findings from experimental and survey research. However, it also shows that one antecedent in particular, which is hard to manipulate in the lab (i.e., the size of someone’s social network), proved to be of great importance. We suggest that in overcoming our most pertinent challenge―causality―we should not only remain in our laboratories but also go out and examine real-life situations with people situated in real-life social networks

Towards an economics of well-being

There is growing concern that presently dominant frameworks in economics no longer provide a way of adequately addressing and analysing the problems of today’s globalising and rapidly changing world. This article makes a number of fundamental proposals about how we might reframe economics to move it towards a clearer focus on human well-being. It develops arguments for a change in the basic ontological proposition and for the need to see ‘the economy’ as an instituted process of resource allocation. From this viewpoint, economics is then the study of resource allocation decisions and processes and the forces that guide these: from a human perspective it is about understanding who gets what, under what conditions and why? The paper argues that a pluralist approach to understanding the economy is necessary for political, analytical and technical reasons. Drawing on a range of contributions to heterodox economics, the paper argues that if we are to understand current crises and challenges, then our understanding of resource allocation in society must have a broader scope than is present in mainstream economics; it proposes a rethinking of economic agency and provides a critique of rational behaviour that is founded in shifting the emphasis from a narrow conception of welfare to well-being. Acknowledging human well-being as a multidimensional concept, the relationship between the well-being of the person and the collective is reconsidered and the methodological implications for the issue of aggregation are discussed. The article seeks to serve as a point of departure for formulating new research questions, exploring the relationships between human well-being and economic development and analysing economic behaviour and interactions in such a way as to bring us closer to peoples’ realities on the ground

Social Protection in Ghana and Kenya through an Inclusive Development Lens: complex effects and risks

This paper analyzes the complex effects and risks of social protection programmes in Ghana and Kenya on poor people’s human wellbeing, voice and empowerment and interactions with the social protection regulatory framework and policy instruments. For this purpose, it adopts a comprehensive Inclusive Development framework to systematically explore the complex effects of cash transfers and health insurance at the individual, household and community level. The findings highlight the positive provisionary and preventive effects of social protection, but also illustrate that the poorest are still excluded and that promotive effects, in the form of enhanced productivity, manifest themselves mainly for the people who are less resource poor. They can build more effectively upon an existing asset base, capabilities, power and social relations to counter the exclusionary mechanisms of the system, address inequity concerns and offset the transaction costs of accessing and benefitting from social protection. The inclusive development framework enables to lay these complex effects and interactions bear, and points to areas that require more longitudinal and mixed methodology research

Gesturing during mental problem solving reduces eye movements, especially for individuals with lower visual working memory capacity

Non-communicative hand gestures have been found to benefit problem-solving performance. These gestures seem to compensate for limited internal cognitive capacities, such as visual working memory capacity. Yet, it is not clear how gestures might perform this cognitive function. One hypothesis is that gesturing is a means to spatially index mental simulations, thereby reducing the need for visually projecting the mental simulation onto the visual presentation of the task. If that hypothesis is correct, less eye movements should be made when participants gesture during problem solvin

Toward a more embedded/extended perspective on the cognitive function of gestures

Gestures are often considered to be demonstrative of the embodied nature of the mind (Hostetter and Alibali, 2008). In this article, we review current theories and research targeted at the intra-cognitive role of gestures. We ask the question how can gestures support internal cognitive processes of the gesturer? We suggest that extant theories are in a sense disembodied, because they focus solely on embodiment in terms of the sensorimotor neural precursors of gestures. As a result, current theories on the intra-cognitive role of gestures are lacking in explanatory scope to address how gestures-as-bodily-acts fulfill a cognitive function. On the basis of recent theoretical appeals that focus on the possibly embedded/extended cognitive role of gestures (Clark, 2013), we suggest that gestures are external physical tools of the cognitive system that replace and support otherwise solely internal cognitive processes. That is gestures provide the cognitive system with a stable external physical and visual presence that can provide means to think with. We show that there is a considerable amount of overlap between the way the human cognitive system has been found to use its environment, and how gestures are used during cognitive processes. Lastly, we provide several suggestions of how to investigate the embedded/extended perspective of the cognitive function of gestures

A single-step sizing and radiofrequency ablation catheter for circumferential ablation of Barrett's esophagus: Results of a pilot study

Background: The 360 Express balloon catheter (360 Express) has the ability to self-adjust to the esophageal lumen, ensuring optimal tissue contact. Objective: The objective of this article is to evaluate the efficacy and safety of the 360 Express for radiofrequency ablation (RFA) treatment of Barrett's esophagus (BE). Methods: BE patients with low-grade dysplasia (LGD), high-grade dysplasia (HGD) or early cancer (EC) were included. Visible lesions were removed by endoscopic resection (ER) prior to RFA. RFA was performed with the 360 Express using the standard ablation regimen (12J/cm2–clean–12J/cm2). Primary outcome: BE regression percentage at three months. Secondary outcomes: procedure time, adverse events, complete eradication of dysplasia (CE-D) and intestinal metaplasia (CE-IM). Results: Thirty patients (median BE C4M6) were included. Eight patients underwent ER prior to RFA. Median BE regression: 90%. Median procedure time: 31 minutes. Adverse events (13%): laceration (n = 1); atrial fibrillation (n = 1); vomiting and dysphagia (n = 1); dysregulated diabetes (n = 1). After subsequent treatment CE-D and CE-IM was achieved in 97% and 87%, respectively. In 10% a stenosis developed during additional treatment requiring a median of one dilation. Conclusion: This study shows that circumferential RFA using the 360 Express may shorten procedure time, while maintaining efficacy compared to standard circumferential RFA