Evangelisches Krankenhaus Bielefeld

Zusammenfassung Das Feld der klinischen und molekularen Genetik bei an Epilepsie erkrankten Personen entwickelt sich rasant weiter. In dieser Übersichtsarbeit bietet das Expertenpanel „Epilepsie und Genetik“ der Deutschen Gesellschaft für Epileptologie (DGfE) einen aktualisierten Überblick über die neuen Entwicklungen, sowohl klinisch etabliert als auch derzeit nur im Forschungskontext durchgeführt. Diese bauen auf der vorherigen Version von 2023 der allgemeinen Empfehlungen auf und ergänzen diese mit speziellen Aspekten. Hervorgehoben werden dabei moderne Ansätze in der Interpretation von Varianten unklarer Signifikanz, das Vorgehen bei ungelösten Fällen anhand von neuartigen Sequenziertechnologien und Omics-Ansätzen, die zunehmende Rolle der prä- und postoperativen Sequenzierung im Rahmen der Epilepsiechirurgie und die Risikostratifizierung anhand von polygenen Scores. Aus diesen Aspekten ergeben sich teils unmittelbar klinisch anwendbare Konsequenzen für alle Teilbereiche der Epileptologie.

Abstract Background Electrocardiogram (ECG)-monitoring covering several days is recommended by current guidelines to detect atrial fibrillation (AF) and other arrhythmias in stroke patients. In clinical practice, the extent of rhythm monitoring varies. In this analysis, we use data from the 24-hour screening-Holter-ECGs of the ongoing randomized multicenter trial Find-AF 2 to assess the detection rate of AF and other sustained arrhythmias. Methods and Results Find-AF 2 (NCT04371055) is a randomized, controlled, open-label, parallel arm, multicenter trial with central AF adjudication (intervention arm) and blinded endpoint assessment [1]. Patients ≥60 years with recent (≤30 days) ischemic strokes according to the AHA/ASA definition of any etiology are screened for eligibility. All eligible patients received a 24-hour Holter-ECG prior to randomization which was reviewed by the ECG core lab following a predefined standard operation procedure. The primary analysis focused on the detection of AF ≥30 seconds and the extent of excessive supraventricular ectopic activity. Bradycardic arrhythmias were deemed relevant if they led to pauses >2.5s or if the heart rate <40 bpm was accompanied by higher-degree AV-blocks. Tachycardic arrhythmias were reported if they persisted ≥ 30 seconds, had a mean rate of >120 bpm or had a ventricular origin. A total of 5411 Screening-Holter-ECGs from 51 study centers were analyzed. The mean age was 72.4±7.6 years and 2194 (41%) patients were female. Holter ECGs were performed after a median [IQR] of 3 [2; 5] days post stroke. We found sustained arrhythmias or pauses in 176 patients (3.3%). AF was seen in 78 patients (1.4%) with a median [IQR] burden of 51% [19; 95] and a median [IQR] duration of the longest episode of 690 [240;1170] minutes (Figure 1). Oral anticoagulation was initiated in all patients with AF. In 72 patients (1.3%), pauses > 2.5 s were seen with a mean duration of the longest pause of 3.3±0.9 s and the longest pause lasting for 7.1 s. Seventeen pauses and two bradycardic episodes occurred due to higher-degree AV-blocks, 41 due to sinus node arrest or sino-atrial block and fourteen during AF. One patient received a pacemaker. We observed regular supraventricular tachycardias in 39 patients (0.7%) and one ventricular tachycardia (0.02%). Conclusion Overall, 3.2 % of ischemic stroke patients had relevant arrhythmias, with an AF detection rate of 1.4%. Potentially life-threatening arrhythmias were rare, and the number needed to screen for a change in therapy was 69. Figure 1: Distribution of relevant arrhythmias. SVT=Supraventricular tachycardia. Figure 2: The empirical cumulative distribution is shown for the duration of the longest AF episode. AF= Atrial Fibrillation. Figure 1 Figure 2

Assessment and comparison of public attitudes toward people with epilepsy (PWE) in Austria (AT), Switzerland (CH) and Germany (DE), including the identification of predictors. Web-based surveys were conducted in all three countries using the same method of data collection, data weighting and validated questionnaires: SAPE (Scale of Attitudes toward People with Epilepsy) to assess Social Distance, Stereotypes, Personal Concerns, and Emotional Reactions, and Suitability of Professional and Leisure Activities for PWE, Epilepsy Knowledge, Experience with epilepsy, and Sociodemographic data of the respondents. For comparison with former surveys the Caveness Questions (CQ) were added. Adult respondents (≥ 18years) who had heard of epilepsy from AT (n=1017), CH (n=951), and DE (n=1001) were included. About two thirds of the population have known someone with epilepsy, around half have witnessed a seizure but less than half would know what to do during a seizure. Attitudes toward PWE were similar across the three countries and did not differ significantly (presented as mean±standard deviation in the total group): Concerns (41.9±23.2) and Fears (36.6±23.9) in dealing with PWE being more pronounced than Anger (9.6±17.1), negative Stereotypes (17.7±18.3), and Social Distance (17.0±18.6). One's own involvement appears to be a key in reducing social distance and improving attitudes toward PWE: Personal contact with PWE, the ability to help during a seizure, and knowledge about treatment of epilepsy were the most important predictors for positive attitudes. Women reported less Social Distance and Anger than men. Only 5-7% of the respondents considered epilepsy as insanity, but between 22-27% would agree with at least one distancing item of the CQ. Professional activities involving dangerous situations or weapons and those involving direct responsibility for a helpless person (baby) were considered less suitable for PWE by around 40% or more of the respondents in all three countries. However, the share of those who were uncertain about the Suitability of Occupational and Leisure Activities was quite high. For the first time a common survey was conducted in the three German speaking countries of Austria, Switzerland and Germany with the new tool (SAPE) encompassing adapted scales on Social Distance and Emotional Reactions. The survey laid the foundation for monitoring changes in attitudes in the three countries in the long term and shows which priorities should be set for desirable joint actions by the three Epilepsy Leagues/Societies to positively influence the attitudes of the populations toward PWE.

<bold>Background:</bold> Oral steroids are still regularly used for treatment of patients with severe asthma. Still there is scarce data on the differences between severe asthma patients on OCS long term therapy compared to patients without regular OCS treatment. <bold>Methods:</bold> Data from 3134 patients with severe asthma from the German Asthma Net's registry were evaluated and 977 patients with long term OCS therapy (OCS group) and 2157 patients without OCS (nonOCS) were compared. <bold>Results:</bold> There were no significant differences in BMI, asthma duration, or smoking habits between the two groups. Patients in the OCS group received a median dose of 10 mg prednisolone and were more symptomatic and experienced significantly more exacerbations compared to nonOCS patients. Asthma control was poorer in the OCS group compared to nonOCS. In addition, OCS group patients had lower median FEV₁, Tiffeneau index, and higher residual volume compared to nonOCS. Prevalence of chronic sinusitis was higher in OCS group (52% vs. 41%, p<0.0001). In addition, OCS group patients exhibited higher FeNO levels (55 ppb vs. 46 ppb, p=0.0009), whereas eosinophil counts were not different and IgE levels tended to be lower. nonOCS patients were more likely to have allergic asthma compared to OCS group patients. OCS group patients received higher doses of ICS (BDP 1400 µg vs. 1000 µg, p<0.0001). Treatment with biologic was equally common in both groups. <bold>Conclusion:</bold> There are differences between OCS group and nonOCS. OCS group patients exhibit more severe disease characteristics and poorer asthma control. These findings highlight the need for optimized treatment strategies in this group.

Objective(1) To compare use, benefits, and complications of stereo‐EEG (SEEG) and subdural EEG (SD) in presurgical epilepsy candidates. (2) To evaluate the effectiveness of both methods in delineation of the epileptogenic zone (EZ) and guiding tailored resective surgery.MethodsWe included patients with SEEG or SD evaluations in children and adults at the Bethel Epilepsy Centre, Germany, between 2000 and 2020. We retrospectively assessed epilepsy related parameters, main indication of iEEG (intracranial EEG, for identification of the EZ and functional mapping), complications, seizure, and functional outcome. The second objective was addressed by a subgroup analysis in patients with focal cortical dysplasia (FCD) and mild malformation of cortical development with oligodendroglial hyperplasia (MOGHE) for delineation of the EZ.ResultsTwo hundred and nineteen iEEG explorations in 215 patients (age range: 1.3–64.6 years) were assessed (SEEG, n = 78; SD, n = 141). We observed a change in iEEG usage away from SD towards SEEG. In the SEEG group, the decision rate against surgery was higher (SEEG: 23.1% vs. SE: 3.5%, p < .001) and more patients achieved seizure freedom 2 years after surgery (SEEG: 67.8% vs. SD: 46.5%, p = .008). For all iEEG, complications were rare; symptomatic intracranial bleeding only occurred in the SD group (n = 6, 4.3%). In patients with FCD/MOGHE for delineation of the EZ, all patients were operated with favorable seizure freedom after SEEG, but with acceptance of planned neurological deficits (SEEG n = 8, SD n = 20, seizure freedom rate SEEG 87.5% vs. SD 30%, p = .011; neurological deficits: SEEG n = 3 planned motor deficits vs. SD n = 1 unplanned motor deficit due to ischemia).SignificanceSEEG has largely replaced SD in iEEG for the identification of the EZ. It is better tolerated and allows more freedom of choice with respect to resective surgery, resulting in the better identification of surgical candidates and delineation of the EZ with favorable seizure outcomes.