Familiäre Kavernome des Zentralnervensystems: Eine klinische und genetische Studie an 15 deutsche Familien

Zusammenfassung: 1928 beschrieb Hugo Friedrich Kufs erstmalig eine Familie mit zerebralen, retinalen und kutanen Kavernomen. Mittlerweile wurden über 300 weitere Familien beschrieben. Ebenfalls wurden drei Genloci 7q21-q22 (mit dem Gen CCM1), 7p15-p13 (Gen CCM2) und 3q25.2-q27 (Gen CCM3) beschrieben, in denen Mutationen zu Kavernomen führen. Das Genprodukt von CCM1 ist das Protein Krit1 (Krev Interaction Trapped 1), das über verschiedene Mechanismen mit der Angiogenese interagiert. Das neu entdeckte CCM2-Gen enkodiert ein Protein, das möglicherweise eine dem Krit1 ähnliche Funktion in der Regulation der Angiogenese hat. Das CCM3-Gen wurde noch nicht beschrieben. In dieser Arbeit werden sowohl die klinischen und genetischen Befunde bei 15 deutschen Familien beschriebe

Neurons in the human amygdala encode face identity, but not gaze direction

The amygdala is important for face processing, and direction of eye gaze is one of the most socially salient facial signals. Recording from over 200 neurons in the amygdala of neurosurgical patients, we found robust encoding of the identity of neutral-expression faces, but not of their direction of gaze. Processing of gaze direction may rely on a predominantly cortical network rather than the amygdala

International ocean discovery program expedition 372 preliminary report: Creeping gas hydrate slides and Hikurangi LWD

International Ocean Discovery Program (IODP) Expedition 372 combined two research topics, slow slip events (SSEs) on subduction faults (IODP Proposal 781A-Full) and actively deforming gas hydrate-bearing landslides (IODP Proposal 841-APL). Our study area on the Hikurangi margin, east of the coast of New Zealand, provided unique locations for addressing both research topics.SSEs at subduction zones are an enigmatic form of creeping fault behavior. They typically occur on subduction zones at depths beyond the capabilities of ocean floor drilling. However, at the northern Hikurangi subduction margin they are among the best-documented and shallowest on Earth. Here, SSEs may extend close to the trench, where clastic and pelagic sediments about 1.0-1.5 km thick overlie the subducting, seamount-studded Hikurangi Plateau. Geodetic data show that these SSEs recur about every 2 years and are associated with measurable seafloor displacement. The northern Hikurangi subduction margin thus provides an excellent setting to use IODP capabilities to discern the mechanisms behind slow slip fault behaviour

Context dependent learning in the serial RT task

This study investigated the development of contextual dependencies for sequential perceptual-motor learning on static features in the learning environment. In three experiments we assessed the effect of manipulating task irrelevant static context features in a serial reaction-time task. Experiment 1 demonstrated impaired performance after simultaneously changing display color, placeholder shape, and placeholder location. Experiment 2 showed that this effect was mainly caused by changing placeholder shape. Finally, Experiment 3 indicated that changing context affected both the application of sequence knowledge and the selection of individual responses. It is proposed either that incidental stimulus features are integrated with a global sequence representation, or that the changed context causes participants to strategically inhibit sequence skills

Ventromedial Prefrontal Cortex Activation Is Associated with Memory Formation for Predictable Rewards

During reinforcement learning, dopamine release shifts from the moment of reward consumption to the time point when the reward can be predicted. Previous studies provide consistent evidence that reward-predicting cues enhance long-term memory (LTM) formation of these items via dopaminergic projections to the ventral striatum. However, it is less clear whether memory for items that do not precede a reward but are directly associated with reward consumption is also facilitated. Here, we investigated this question in an fMRI paradigm in which LTM for reward-predicting and neutral cues was compared to LTM for items presented during consumption of reliably predictable as compared to less predictable rewards. We observed activation of the ventral striatum and enhanced memory formation during reward anticipation. During processing of less predictable as compared to reliably predictable rewards, the ventral striatum was activated as well, but items associated with less predictable outcomes were remembered worse than items associated with reliably predictable outcomes. Processing of reliably predictable rewards activated the ventromedial prefrontal cortex (vmPFC), and vmPFC BOLD responses were associated with successful memory formation of these items. Taken together, these findings show that consumption of reliably predictable rewards facilitates LTM formation and is associated with activation of the vmPFC

Recommendations for the treatment of epilepsy in adult patients in general practice in Belgium: an update

In 2008, a group of Belgian epilepsy experts published recommendations for antiepileptic drug (AED) treatment of epilepsies in adults and children. Selection of compounds was based on the registration and reimbursement status in Belgium, the level of evidence for efficacy, common daily practice and the personal views and experiences of the authors. In November 2011 the validity of these recommendations was reviewed by the same group of Belgian epilepsy experts who contributed to the preparation of the original paper. The recommendations made in 2008 for initial monotherapy in paediatric patients were still considered to be valid, except for the first choice treatment for childhood absence epilepsy. This update therefore focuses on the treatment recommendations for initial monotherapy and add-on treatment in adult patients. Several other relevant aspects of treatment with AEDs are addressed, including considerations for optimal combination of AEDs (rational polytherapy), pharmacokinetic properties, pharmacodynamic and pharmacokinetic interaction profile, adverse effects, comorbidity, treatment of elderly patients, AED treatment during pregnancy, and generic substitution of AEDs

Sensory information in perceptual-motor sequence learning: visual and/or tactile stimuli

Sequence learning in serial reaction time (SRT) tasks has been investigated mostly with unimodal stimulus presentation. This approach disregards the possibility that sequence acquisition may be guided by multiple sources of sensory information simultaneously. In the current study we trained participants in a SRT task with visual only, tactile only, or bimodal (visual and tactile) stimulus presentation. Sequence performance for the bimodal and visual only training groups was similar, while both performed better than the tactile only training group. In a subsequent transfer phase, participants from all three training groups were tested in conditions with visual, tactile, and bimodal stimulus presentation. Sequence performance between the visual only and bimodal training groups again was highly similar across these identical stimulus conditions, indicating that the addition of tactile stimuli did not benefit the bimodal training group. Additionally, comparing across identical stimulus conditions in the transfer phase showed that the lesser sequence performance from the tactile only group during training probably did not reflect a difference in sequence learning but rather just a difference in expression of the sequence knowledge

Minimally-invasive tracheostomy (MIT): A care bundle for safety improvement in high-risk critically ill patients

Background Detailed reports are scarce on minimally-invasive tracheostomy (MIT) techniques for critically ill patients with challenging anatomy or complex coagulopathies. In such high-risk patients, conventional percutaneous dilatational tracheostomy (PDT) may lead to severe complications. Methods Aiming to broaden the scope of MIT for patients previously excluded due to high risks, we developed a new care bundle (MIT technique), specifically designed for intensive care specialists. Our study examined the outcomes of MIT in 32 high-risk patients treated in an ICU of a University Hospital with specific focus on gastrointestinal and liver diseases. Results We have modified the conventional PDT technique by incorporating an initial skin incision, blunt dissection, diaphanoscopy-guided probe puncture, and continuous bronchoscopic monitoring. Our care bundle also introduces an anterolateral approach for tracheal entry, a significant advancement for patients with complex neck anatomy or dense vasculature, where an anterolateral trajectory avoids midline blood vessels. This enhanced method has proven to be safer than traditional PDT, with a notable absence of post-procedural hemorrhages, cannula misplacements, or infections. Conclusion The use of our refined care bundle enabled swift minimally-invasive tracheostomy in high-risk patients without the occurrence of serious complications