Emotional facial paralysis in the Rett Syndrome.
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Biomedical subjects
Publications and source records attributed to R Ferri.
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Polygraphic sleep recordings (EEG, EMG, and EOG) were performed in two groups of epileptic subjects, six with fragile-X syndrome and six with symptomatic epilepsy. Recordings were visually scored for sleep stages and number of spikes/min. Subjects with fragile-X syndrome showed a well defined pattern of production of interictal epileptiform activity with the lowest values during REM sleep; symptomatic epileptic subjects showed less defined and more variable spike/min diagrams. The spectral analysis of the outline of such diagrams confirmed these differences showing shorter periodicities (80-100 min) in the fragile-X group compared to those of the symptomatic group (160-220 min). Finally, a model with multiple feedback circuits is proposed in order to explain the different patterns observed.
The role of thymectomy in the treatment of myasthenia gravis (MG) was analysed in 400 patients affected with generalised MG operated on between 1974-83, and prospectively followed up for five years after surgery. The occurrence of stable remission (SR) (that is, complete clinical drug-free remission that remains stable for all the subsequent follow up) was the endpoint of survival analyses and the distribution of SR time (SRT, that is, the interval from thymectomy to the occurrence of SR) was assessed by actuarial and Cox multivariate analyses. SRT distribution after surgery showed a slow progressive increase of cumulative SR rate that could both be ascribed to a delayed effect of thymectomy as well as reflect the natural history of MG, itself characterised by an increasing probability of spontaneous remission with time. SRT distribution was similar after stratification for all variables studied except when patients without thymoma were stratified for the need for immunosuppressive treatment in addition to thymectomy. Patients without thymoma who did not require additional immunosuppressive therapy (n = 130) had the highest SR rate occurring in the two years after thymectomy, and differed from patients treated with immunosuppressive drugs who showed the highest SR rate five years after surgery. Actuarial analysis has therefore identified a subgroup of patients where SR, occurring in the first years after surgery, is more likely to be ascribed to thymectomy than merely reflect the natural course of the disease.
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The authors present a new system for the automatic detection of sleep spindles. The electronic and computer analysis are described and a comparison between automatic and visual analysis, performed by two independent readers, was carried out with the aim of evaluating the reliability of the system. Results are discussed and compared with those of different systems already described.
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In this paper, results from the visual scoring of nocturnal polygraphic recordings, carried out by nine different groups of readers from different Italian sleep laboratories, are analyzed; inter-and intragroup variability is shown and statistically discussed. Data are then compared with the results of an automatic scoring of the same recordings, carried out by the Medilog Sleep Stager. The validity of this automatic method of scoring is discussed. Finally, an epoch by epoch analysis is described, with the aim of achieving a more detailed evaluation of the intergroup variability.
Mentally retarded children present a reduction in percentage of REM sleep and of oculomotor frequencies. These sleep patterns are probably relevant for their cognitive activities. The effects of butoctamide hydrogen succinate and intensive learning sessions on the night sleep of five Down's syndrome patients was studied by the authors. They found an increase in percentage of REM sleep after pharmacological treatment and an increase in oculomotor frequencies after learning sessions. The authors' hypotheses of REM sleep as a neurophysiological indicator of cerebral "plasticity" and of oculomotor frequencies as an indicator of "organization" abilities are discussed in this article. Pedagogical implications and therapeutical perspectives are also outlined.
Several investigators have described the altered sleep patterns in Down's syndrome subjects. The most relevant findings have been a reduction in percentage of REM sleep, a prolonged latency to the first REM episode, an increase in undifferentiated sleep, and a reduced ratio of the oculomotor frequencies. Because it is of interest to identify new drugs able to increase the percentage of REM sleep in mentally retarded subjects, we studied the effects of butoctamide hydrogen succinate (BAHS) on nocturnal sleep in eight young institutionalized Down's syndrome subjects. BAHS produced a significant increase in the percentage of REM sleep as well as a decrease in undifferentiated sleep and latency to the first REM.
In fourteen subjects with various stages of hepatic encephalopathy (HE), Visual Evoked Potential (VEP) recording and blood ammonia (NH3), octopamine (OCT) and phenylethanolamine (PEA) determinations were performed before and during a four-day treatment with branched chain amino acid (BCAA) i.v. infusion. All the subjects with HE showed significant basal VEP alterations, namely an increased latency and a lowered amplitude of the P100 wave, in comparison with a control group of 26 normal subjects. A significant improvement in P100 wave amplitude occurred just about 60' after the beginning of BCAA infusion, while P100 latency was still unaffected, as were OCT, PEA and NH3 levels. After the fourth day of BCAA treatment, both P100 wave amplitudes and latencies were strongly improved, together with OCT, PEA and NH3 levels. VEP improvements seemed to be well correlated with HE clinical evolution, and were able to detect modifications of central nervous system reactivity earlier than serum parameters.
The composition of the effluents from incineration plants has been studied by several authors, and some chemical compounds have been identified as hazardous to the health of the people living in the environs of such plants. On the other hand, very little is known about the chemical risks for the people working inside the incineration plants. In the present paper, an evaluation of these risks has been attempted by testing for the mutagenic activity of the extracts of airborne particulates collected inside the working area of the Municipal Incinerator of Trieste. Most samples of dust were proved to be mutagenic by the Ames test, indicating that the environment is heavily polluted with incompletely burnt materials. In fact, when a sample of settled dust was heated at high temperatures, its mutagenic activity disappeared. In addition, samples of solid residues collected at the end of the combustion process showed only weak, if any, mutagenic response.
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In this paper, we describe a study aiming at establishing the prevalence, specificity, and the sensitivity of a characteristic sleep EEG pattern in patients with Martin-Bell syndrome, in comparison with a sample of etiologically different mentally retarded patients. The estimation of the prevalence (11% among the total sample), the specificity, and the sensitivity, allows us to propose this pattern as an important "marker", useful in the diagnosis of the Martin-Bell syndrome.
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