281 research outputs found
A mammalian homologue of the Drosophila retinal degeneration B gene: implications for the evolution of phototransduction mechanisms.
No full textA mammalian homologue of the Drosophila retinal degeneration B gene: implications for the evolution of phototransduction mechanisms.
No full textErrors in laboratory medicine
No full textBackground: The problem of medical errors has recently received a great deal of attention, which will probably increase. In this minireview, we focus on this issue in the fields of laboratory medicine and blood transfusion. We conducted several MEDLINE queries and searched the literature by hand. Searches were limited to the last 8 years to identify results that were not biased by obsolete technology. In addition, data on the frequency and type of preanalytical errors in our institution were collected. Results: Our search revealed large heterogeneity in study designs and quality on this topic as well as relatively few available data and the lack of a shared definition of "laboratory error" (also referred to as "blunder", "mistake", "problem", or "defect"). Despite these limitations, there was considerable concordance on the distribution of errors throughout the laboratory working process: most occurred in the pre- or postanalytical phases, whereas a minority (13-32% according to the studies) occurred in the analytical portion. The reported frequency of errors was related to how they were identified: when a careful process analysis was performed, substantially more errors were discovered than when studies relied on complaints or report of near accidents. Conclusions: The large heterogeneity of literature on laboratory errors together with the prevalence of evidence that most errors occur in the preanalytical phase suggest the implementation of a more rigorous methodology for error detection and classification and the adoption of proper technologies for error reduction. Clinical audits should be used as a tool to detect errors caused by organizational problems outside the laboratory. © 2002 American Association for Clinical Chemistry
Age-related changes of beta-endorphin and cholecystokinin in peripheral blood mononuclear cells
No full textNeurophysiological mechanisms of paroxysmal motor manifestation, induced by visual stimulation, in photosensitive epilepsies | [Meccanismi neurofisiologici delle manifestazioni motorie nelle epilessie fotosensibili]
No full textMyoclonus is the most common motor clinical manifestation of photosensitivity. We investigated, by means of computerized video-polygraphic techniques, the neurophysiological characteristics of photic-induced myoclonia in four patients with progressive myoclonus epilepsies and marked photosensitivity. In all four patients, intermittent photic stimulation induced either focal or massive myoclonic jerks. Myoclonic jerks at the limbs were associated with a contralateral cortical potential, whose peak preceded the onset of the myoclonic potential by a latency compatible with a conduction along direct cortico-spinal pathways. Propagation of photic- induced myoclonia in different cranial and limb muscles followed a rostro- caudal pattern. Our findings indicate a cortical origin of photic-induced myoclonia in PME, with neurophysiological features similar to those described in photic cortical reflex myoclonus
Temporal lobe epilepsy and emotion recognition without amygdala: a case study of Urbach-Wiethe disease and review of the literature.
No full textWe describe the epilepsy features and emotion recognition abilities (recognition of basic facial emotions and recognition of emotional prosody) in a patient with Urbach-Wiethe disease with bilateral amygdala calcifications. Our data, supported by ictal video-EEG recording, indicated that our patient suffered from mesial temporal lobe epilepsy. Emotion recognition abilities were compared to those of healthy controls and those of patients with bilateral mesial temporal lobe epilepsy. Our patient showed a selective impairment of the recognition of facial expression of fear, whereas recognition of emotional prosody was preserved, in contrast to bilateral mesial temporal lobe epilepsy patients that presented with deficits in both domains. We also reviewed the literature on epilepsy in Urbach-Wiethe disease (41 patients). Our findings suggest that in Urbach-Wiethe disease, the circumscribed damage of both amygdalae results in a selective dysfunction of fearful face processing, in contrast to bilateral mesial temporal lobe epilepsy patients who present with a widespread and multimodal impairment in the judgement of emotional stimuli
Chromosomal localization of the genes coding the human alpha 3, beta 4 and alpha 5 neuronal acetylcholine receptor subunits.
No full textThe genes for human alpha 3, beta 4 and alpha 5 neuronal acetylcholine receptor subunits have been cloned and localised on human metaphase chromosomes by in situ hybridization
Ethosuximide is effective in the treatment of epileptic negative myoclonus in childhood partial epilepsy
No full textThe aim of our study was to evaluate the effectiveness of ethosuximide in the treatment of epileptic negative myoclonus, a motor disorder that can occur in childhood partial epilepsy. We introduced ethosuximide in nine patients with partial epilepsy of varying etiology (idiopathic, cryptogenic, symptomatic) who presented with epileptic negative myoclonus. The drug was added to the patients' preexisting antiepileptic drugs, which were maintained unchanged for the following 6 months. Epileptic negative myoclonus disappeared in all patients 15 to 30 days after ethosuximide was started. Plasma ethosuximide levels ranged from 55 to 89 micrograms/mL. The clinical response was not influenced by the patients' preexisting treatment or by the etiology of the epilepsy. No side effects were observed, and none of the patients presented a recurrence of epileptic negative myoclonus during follow-up. Furthermore, in five patients we observed the disappearance of partial seizures; in the remaining patients seizures were reduced by more than 75%. Electroencephalograms showed a decrement or disappearance of focal paroxysmal abnormalities. Our results suggest that ethosuximide is effective in the treatment of epileptic negative myoclonus and that it should be considered as a first-choice drug in the treatment of this motor disorder
Impaired facial emotion recognition in early-onset right mesial temporal lobe epilepsy.
No full textBackground: Anteromedial temporal lobe regions, particularly the amygdala, participate in the recognition of emotions from facial expressions. The authors studied the ability of facial emotion recognition (ER) in subjects with symptomatic epilepsy, evaluating whether mesial temporal lobe damage is related to an impairment in the recognition of specific emotions and whether the onset of seizures in a critical period of life could prevent the development of ER.Methods: Groups included patients with temporal lobe epilepsy (TLE) with MRI evidence of mesial temporal sclerosis (MTS) (n 33); patients with TLE with MRI evidence of temporal lobe lesions other than MTS (n 30); and patients with extratemporal epilepsy (n 33). Healthy volunteers (n 50) served as controls. ER was tested by matching a facial expression with the name of one of the following basic emotions: happiness, sadness, fear, disgust, and anger. A face-matching task was used to control visuoperceptual abilities with face stimuli.Results: No subject showed deficits in the face-matching task. ER was impaired in patients with right MTS, especially for fearful faces. Patients presenting left MTS, right or left temporal lobe lesions other than MTS, or extratemporal seizure foci showed ER performances similar to controls. In all subjects with right TLE, the degree of emotion recognition impairment was related to age at first seizure (febrile or afebrile) and age at epilepsy onset.Conclusions: Early-onset right-sided mesial temporal lobe epilepsy is the key substrate determining a severe deficit in recognizing emotional facial expressions, especially fear
Automatisms as fixed action patterns in an ethological perspective: The role of central pattern generators
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