348 research outputs found
IDIOPATHIC PARTIAL EPILEPSY WITH AUDITORY FEATURES (IPEAF): A CLINICAL AND GENETIC STUDY OF 53 SPORADIC CASES
The purpose of our study was to describe the clinical characteristics of sporadic
(S) cases of partial epilepsy with auditory features (PEAF) and pinpoint
clinical, prognostic and genetic differences with respect to previously reported
familial (F) cases of autosomal dominant partial epilepsy with auditory features
(ADPEAF). We analysed 53 patients (24 females and 29 males) with PEAF diagnosed
according to the following criteria: partial epilepsy with auditory symptoms,
negative family history for epilepsy and absence of cerebral lesions on NMR
study. All patients underwent a full clinical, neuroradiological and
neurophysiological examination. Forty patients were screened for mutations in
LGI1/epitempin, which is involved in ADPEAF. Age at onset ranged from 6 to 39
years (average 19 years). Secondarily generalized seizures were the most common
type of seizures at onset (79%). Auditory auras occurred either in isolation
(53%) or associated with visual, psychic or aphasic symptoms. Low seizure
frequency at onset and good drug responsiveness were common, with 51% of patients
seizure-free. Seizures tended to recur after drug withdrawal. Clinically, no
major differences were found between S and F patients with respect to age at
onset, seizure frequency and response to therapy. Analysis of LGI1/epitempin
exons failed to disclose mutations. Our data support the existence of a peculiar
form of non-lesional temporal lobe epilepsy closely related to ADPEAF but without
a positive family history. This syndrome, here named IPEAF, has a benign course
in the majority of patients and could be diagnosed by the presence of auditory
aura. Although LGI1 mutations have been excluded, genetic factors may play an
aetiopathogenetic role in at least some of these S cases
Whole-brain histogram and voxel-based analyses of apparent diffusion coefficient and magnetization transfer ratio in celiac disease, epilepsy, and cerebral calcifications syndrome
BACKGROUND AND PURPOSE: Diffusion and magnetization transfer (MT) techniques have been applied to the investigation with MR of epilepsy and have revealed changes in patients with or without abnormalities on MR imaging. We hypothesized that also in the coeliac disease (CD), epilepsy and cerebral calcifications (CEC) syndrome diffusion and MT techniques could reveal brain abnormalities undetected by MR imaging and tentatively correlated to epilepsy.
MATERIALS AND METHODS: Diffusion and MT weighted images were obtained in 10 patients with CEC, 8 patients with CD without epilepsy and 17 healthy volunteers. The whole brain apparent diffusion coefficient (ADC) and MT ratio (MTR) maps were analyzed with histograms and the Statistical Parametric Mapping 2 (SPM2) software. We employed the non-parametric Mann-Whitney U test to assess differences for ADC and MTR histogram metrics. Voxel by voxel comparison of the ADC and MTR maps was performed with 2 tails t-test corrected for multiple comparison.
RESULTS: A significantly higher whole brain ADC value as compared to healthy controls was observed in CEC (P = 0.006) and CD (P = 0.01) patients. SPM2 showed bilateral areas of significantly decreased MTR in the parietal and temporal subcortical white matter (WM) in the CEC patients.
CONCLUSION: Our study indicates that diffusion and MT techniques are also capable of revealing abnormalities undetected by MR imaging. In particular patients with CEC syndrome show an increase of the whole brain ADC histogram which is more pronounced than in patients with gluten intolerance. IN CEC patients, voxel-based analysis demonstrates a localized decrease of the MTR in the parieto-temporal subcortical WM
Ballonnen in zee = balloons as marine litter
Releasing balloons seems harmless. However, remains of balloons, especially valves and ribbons are becoming a common and persistent type of marine litter found on beaches. Following Dutch Queens day 2007, large numbers of Dutch balloons were found in Normandy, France. Animals may become entangled in ribbons or ingest the materials. Even though balloon rubber quickly disintegrates, remains are found in 1-2% of stomachs of Northern Fulmars beached in the North Sea area. ChildrenÂżs contests, releasing balloons with name tags, are not the real problem, especially if no plastic valves and short, degradable ribbons are used. However, the vast majority of balloons released is meant for company advertising and provide just a very short moment of joy followed by a nuisance in the marine environment. environmentally friendly companies may want to reconsider such activities in future
Centrotemporal spikes during NREM sleep: The promoting action of thalamus revealed by simultaneous EEG and fMRI coregistration
Benign childhood epilepsy with centrotemporal spikes (BECTS) has been investigated through EEG\u2013fMRI with the aim of localizing the generators of the epileptic activity, revealing, in most cases, the activation of the sensory\u2013motor cortex ipsilateral to the centrotemporal spikes (CTS). In this case report, we investigated the brain circuits hemodynamically involved by CTS recorded during wakefulness and sleep in one boy with CTS and a language disorder but without epilepsy. For this purpose, the patient underwent EEG\u2013fMRI coregistration. During the \u201cawake session\u201d, fMRI analysis of right-sided CTS showed increments of BOLD signal in the bilateral sensory\u2013motor cortex. During the \u201csleep session\u201d, BOLD increments related to right-sided CTS were observed in a widespread bilateral cortical\u2013subcortical network involving the thalamus, basal ganglia, sensory\u2013motor cortex, perisylvian cortex, and cerebellum.
In this patient, who fulfilled neither the diagnostic criteria for BECTS nor that for electrical status epilepticus in sleep (ESES), the transition from wakefulness to sleep was related to the involvement of a widespread cortical\u2013subcortical network related to CTS. In particular, the involvement of a thalamic\u2013perisylvian neural network similar to the one previously observed in patients with ESES suggests a common sleep-related network dysfunction even in cases with milder phenotypes without seizures. This finding, if confirmed in a larger cohort of patients, could have relevant therapeutic implication
Side effects of analgesia may significantly reduce quality of life in symptomatic multiple myeloma: a cross-sectional prevalence study
Background Pain is a common symptom in patients with
multiple myeloma (MM). Many patients are dependent on
analgesics and in particular opioids, but there is limited information
on the impact of these drugs and their side effects on
health-related quality of life (HRQoL).
Method In a cross-sectional study, semi-structured interviews
were performed in 21 patients attending the hospital with
symptomatic MM on pain medications. HRQoL was measured
using items 29 and 30 of the European Organisation for
Research and Treatment of Cancer (EORTC) QLQ-C30.
Results Patients were able to recall a median of two (range
0–4) analgesics. They spontaneously identified a median
of two (range 1–5) side effects attributable to their analgesic
medications. Patients’ assessment of HRQoL based on
the EORTC QLQ-C30 questions 29/30 was mean 48.3
(95 % CI; 38.7–57.9) out of 100. Patients’ assessment of
their HRQoL in the hypothetical situation, in which they
would not experience any side effects from analgesics, was
significantly higher: 62.6 (53.5–71.7) (t test, p=0.001).
Conclusion This study provides, for the first time, evidence
that side effects of analgesics are common in symptomatic
MM and may result in a statistically and clinically significant
reduction of self-reported HRQoL
Epilepsy with continuous spike-waves during slow wave sleep: a clinical and electroencephalographic study
Cue-target contingencies modulate voluntary orienting of spatial attention: dissociable effects for speed and accuracy
Voluntary orienting of spatial attention is typically investigated by visually presented directional cues, which are called predictive when they indicate where the target is more likely to appear. In this study, we investigated the nature of the potential link between cue predictivity (the proportion of valid trials) and the strength of the resulting covert orienting of attention. Participants judged the orientation of a unilateral Gabor grating preceded by a centrally presented, non-directional, color cue, arbitrarily prompting a leftwards or rightwards shift of attention. Unknown to them, cue predictivity was manipulated across blocks, whereby the cue was only predictive for either the first or the second half of the experiment. Our results show that the cueing effects were strongly influenced by the change in predictivity. This influence differently emerged in response speed and accuracy. The speed difference between valid and invalid trials was significantly larger when cues were predictive, and the amplitude of this effect was modulated at the single trial level by the recent trial history. Complementary to these findings, accuracy revealed a robust effect of block history and also a different time-course compared with speed, as if it mainly mirrored voluntary processes. These findings, obtained with a new manipulation and using arbitrary non-directional cueing, demonstrate that cue-target contingencies strongly modulate the way attention is deployed in space
Protracted infusional 5-fluorouracil plus high-dose folinic acid combined with bolus mitomycin C in patients with gastrointestinal cancer: a phase I/II dose escalation study
Multiplex PCR-based detection of Leptospira in environmental water samples obtained from a slum settlement
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