Brain imaging of visceral functions in healthy volunteers and IBS patients

From experience, most people know about a link between psychological processes and gastrointestinal sensory and motor functions. Cognitive processes (e.g., attention) as well as affective processes (e.g., fear) play a role in gastrointestinal sensations in healthy controls and patients with irritable bowel syndrome (IBS) alike. However, the exact nature of this relationship has not been completely understood yet. Brain imaging techniques allow for the study of brain-gut interactions in vivo. Accordingly, positron emission tomography (PET) and functional magnetic resonance imaging (fMRI) have been widely used to study neural mechanisms underlying visceral sensations. This article will summarize the results of functional brain imaging studies in healthy controls and selected studies assessing the influence of psychological processes on gastrointestinal functions. Subsequently, this article will deal with those brain areas activated by visceral stimulation in IBS patients. Special attention will be paid to recently published studies concerning psychological factors and novel research questions. (C) 2008 Elsevier Inc. All rights reserved.status: publishe

Generalized epilepsy and myoclonic seizures in 22q11.2 deletion syndrome

Prompted by the observations of juvenile myoclonic epilepsy (JME) in 22q11.2 deletion syndrome (22q11DS) and recurrent copy number variants in genetic generalized epilepsy (GGE), we searched for further evidence supporting a possible correlation of 22q11DS with GGE and with myoclonic seizures. Through routine diagnostics, we identified 3 novel individuals with the seemingly uncommon combination of 22q11DS and JME. We subsequently screened the literature for reports focussing on the epilepsy phenotype in 22q11DS. We additionally screened a database of 173 22q11DS patients and identified a fourth individual with JME as well as 2 additional cases with GGE. We describe 6 novel and 22 published cases with co-occurrence of 22q11DS and GGE. In many patients, GGE was associated with myoclonic seizures allowing for a diagnosis of JME in at least 6 individuals. Seventeen of the 173 22q11DS cases (10%) had a diagnosis of either focal or generalized epilepsy. In these cases, focal epilepsy could often be attributed to syndrome-associated hypocalcaemia, cerebral bleeds, or structural brain anomalies. However, the cause of GGE remained unclear. In this study, we describe and review 28 individuals with 22q11DS and GGE (especially JME), showing that both disorders frequently co-occur. Compared to the reported prevalence of 15-21%, in our case series only 10% of 22q11DS individuals were found to have epilepsy, often GGE. Since 22q11.2 does not contain convincing GGE candidate genes, we discuss the possibility of an aetiological correlation through a possibly disturbed interaction with the GABAB receptor