Linking immigration policies and migrants' journeys: an interdisciplinary endeavor

Both the interests of nation states to manage migration and the behavior of migrants during their individual journeys have mutually reinforcing effects on the design and functioning of contemporary migration regimes. This assumption has motivated the interdisciplinary approach of this volume. The aim is to understand how immigration policies affect migrants’ journeys and vice versa. We want to find out whether or not the assumptions that lead to the design of immigration policies reflect reality. Does border control prevent irregular immigration? And what is the role of the various actors, including the countries of origin, transit, and arrival, and the migrants themselves? In order to answer these questions, we bring together insights from political science and ethnographic field work—two disciplines which have so far debated their insights mainly within separate research frameworks. The articles take into account the interests of the migrants’ countries of origin, transit and arrival, as well as the motives and strategies of the migrants themselves. The resulting findings are relevant to both policy makers and scientific experts, but also to anyone interested in governing migration

Unintended effects of immigration policies for government and migrants

In this chapter, we draw empirical and theoretical conclusions based on the various analyses contained in this volume that focus on the European and U.S. migration regimes. We conclude that immigration policies have a multitude of unintended effects which affect both migrants and governments in the countries of origin, transit, and arrival. This chapter begins with an overview of the interest policies inside and outside the ‘defended’ territories. In the U.S. a lucrative internal market of border control has emerged, whereas the EU’s externalized border control includes the neighboring countries. The second part describes the unintended effects arising due to inconsistent general policies of the countries of arrival and origin, which often contradict the official immigration policies. Following this, the limited effect of border control measures on immigrants and their journeys are discussed. In the fourth section we explore in more detail the unintended effects in the form of new areas of cooperation, including new forms of self-organization, local interest groups, and sanctuary movements. The final section summarizes the various unintended effects and offers recommendations for decision makers in the field of migration policy

Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A

Epilepsy comprises several syndromes, amongst the most common being mesial temporal lobe epilepsy with hippocampal sclerosis. Seizures in mesial temporal lobe epilepsy with hippocampal sclerosis are typically drug-resistant, and mesial temporal lobe epilepsy with hippocampal sclerosis is frequently associated with important co-morbidities, mandating the search for better understanding and treatment. The cause of mesial temporal lobe epilepsy with hippocampal sclerosis is unknown, but there is an association with childhood febrile seizures. Several rarer epilepsies featuring febrile seizures are caused by mutations in SCN1A, which encodes a brain-expressed sodium channel subunit targeted by many anti-epileptic drugs. We undertook a genome-wide association study in 1018 people with mesial temporal lobe epilepsy with hippocampal sclerosis and 7552 control subjects, with validation in an independent sample set comprising 959 people with mesial temporal lobe epilepsy with hippocampal sclerosis and 3591 control subjects. To dissect out variants related to a history of febrile seizures, we tested cases with mesial temporal lobe epilepsy with hippocampal sclerosis with (overall n = 757) and without (overall n = 803) a history of febrile seizures. Meta-analysis revealed a genome-wide significant association for mesial temporal lobe epilepsy with hippocampal sclerosis with febrile seizures at the sodium channel gene cluster on chromosome 2q24.3 [rs7587026, within an intron of the SCN1A gene, P = 3.36 × 10−9, odds ratio (A) = 1.42, 95% confidence interval: 1.26-1.59]. In a cohort of 172 individuals with febrile seizures, who did not develop epilepsy during prospective follow-up to age 13 years, and 6456 controls, no association was found for rs7587026 and febrile seizures. These findings suggest SCN1A involvement in a common epilepsy syndrome, give new direction to biological understanding of mesial temporal lobe epilepsy with hippocampal sclerosis with febrile seizures, and open avenues for investigation of prognostic factors and possible prevention of epilepsy in some children with febrile seizure

Efficacy, Retention and Tolerability of Everolimus in Patients with Tuberous Sclerosis Complex: A Survey-Based Study on Patients’ Perspectives

Background The approval of everolimus (EVE) for the treatment of angiomyolipoma (2013), subependymal giant cell astrocytoma (2013) and drug-refractory epilepsy (2017) in patients with tuberous sclerosis complex (TSC) represents the first disease-modifying treatment option available for this rare and complex genetic disorder. Objective The objective of this study was to analyse the use, efficacy, tolerability and treatment retention of EVE in patients with TSC in Germany from the patient’s perspective. Methods A structured cross-age survey was conducted at 26 specialised TSC centres in Germany and by the German TSC patient advocacy group between February and July 2019, enrolling children, adolescents and adult patients with TSC. Results Of 365 participants, 36.7% (n = 134) reported the current or past intake of EVE, including 31.5% (n = 115) who were taking EVE at study entry. The mean EVE dosage was 6.1 ± 2.9 mg/m2 (median: 5.6 mg/m2, range 2.0–15.1 mg/m2) in children and adolescents and 4 ± 2.1 mg/m2 (median: 3.7 mg/m2, range 0.8–10.1 mg/m2) in adult patients. An early diagnosis of TSC, the presence of angiomyolipoma, drug-refractory epilepsy, neuropsychiatric manifestations, subependymal giant cell astrocytoma, cardiac rhabdomyoma and overall multi-organ involvement were associated with the use of EVE as a disease-modifying treatment. The reported efficacy was 64.0% for angiomyolipoma (75% in adult patients), 66.2% for drug-refractory epilepsy, and 54.4% for subependymal giant cell astrocytoma. The overall retention rate for EVE was 85.8%. The retention rates after 12 months of EVE therapy were higher among adults (93.7%) than among children and adolescents (88.7%; 90.5% vs 77.4% after 24 months; 87.3% vs 77.4% after 36 months). Tolerability was acceptable, with 70.9% of patients overall reporting adverse events, including stomatitis (47.0%), acne-like rash (7.7%), increased susceptibility to common infections and lymphoedema (each 6.0%), which were the most frequently reported symptoms. With a total score of 41.7 compared with 36.8 among patients not taking EVE, patients currently being treated with EVE showed an increased Liverpool Adverse Event Profile. Noticeable deviations in the sub-items ‘tiredness’, ‘skin problems’ and ‘mouth/gum problems’, which are likely related to EVE-typical adverse effects, were more frequently reported among patients taking EVE. Conclusions From the patients’ perspective, EVE is an effective and relatively well-tolerated disease-modifying treatment option for children, adolescents and adults with TSC, associated with a high long-term retention rate that can be individually considered for each patient. Everolimus therapy should ideally be supervised by a centre experienced in the use of mechanistic target of rapamycin inhibitors, and adverse effects should be monitored on a regular basis

GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture

Epilepsy is a highly heritable disorder affecting over 50 million people worldwide, of which about one-third are resistant to current treatments. Here we report a multi-ancestry genome-wide association study including 29,944 cases, stratified into three broad categories and seven subtypes of epilepsy, and 52,538 controls. We identify 26 genome-wide significant loci, 19 of which are specific to genetic generalized epilepsy (GGE). We implicate 29 likely causal genes underlying these 26 loci. SNP-based heritability analyses show that common variants explain between 39.6% and 90% of genetic risk for GGE and its subtypes. Subtype analysis revealed markedly different genetic architectures between focal and generalized epilepsies. Gene-set analyses of GGE signals implicate synaptic processes in both excitatory and inhibitory neurons in the brain. Prioritized candidate genes overlap with monogenic epilepsy genes and with targets of current antiseizure medications. Finally, we leverage our results to identify alternate drugs with predicted efficacy if repurposed for epilepsy treatment

Visualizing Climate Change Adaptation

This article analyzes how humanitarian and/or development organizations acting as intermediaries between scientists and vulnerable populations aim to make environmental changes visible while trying to meet local needs and demands for sustainable livelihoods. Based on an in-depth organizational case study in Southern Thailand, the research analyses the use of visualization tools to foster environmental knowledge and literacy while supporting both policymaking as well as citizen engagement. Drawing on insights from sociology of organizations, the study discusses the organizational reasons for the use of visualization tools, outlining the underlying coercive, mimetic and normative pressures that facilitate their proliferation in the context of environmental communication. The results show that both the participatory approach as well as the use of audiovisual and digital tools to communicate project goals and results have become indispensable and institutionalized tools in the organizational field of humanitarian and development aid. In this context, organizations have become intermediaries and translators between ‘climate risk’ scientists and ‘at risk’ people, thus, facilitating environmental communication. The results show that questions of trust and ownership of ideas play an important role in the context of livelihood related projects linked to climate change adaptation. In this context, not only does the style and content of communication, but also the relationship between the parties who communicate, have an impact upon the success or failure of managing options in climate change adaptation