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排序方式: 共有326条查询结果,搜索用时 15 毫秒
1.
Henri Gastaut Benjamin Zifkin Marcel Rufo 《Journal of autism and developmental disorders》1987,17(3):391-406
Syncopes due to compulsive respiratory stereotypies were studied in eight patients with autistic features. Most had been referred for episodes thought to be intractable epileptic seizures. Polygraphic recording showed two types of syncope, one induced by prolonged apnea and the other by a prolonged Valsalva maneuver. Fenfluramine, 1.5–3 mg/kg per day, was given in an open trial. In four of five cases with frequent Valsalva maneuvers, respiratory stereotypies and syncopes were suppressed for 2–18 months. Patients with periodic apneas were more severely retarded and had less clear benefit. Side effects consisted of dose-dependent sedation and mild weight loss which stabilized without interrupting treatment. We suggest that these syncopes are volitional and may be associated with pleasant sensations. A double-blind placebo-controlled trial of fenfluramine seems warranted in such patients. 相似文献
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Polymorphism and drug-selected mutations in the protease gene of human immunodeficiency virus type 2 from patients living in Southern France
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Colson P Henry M Tourres C Lozachmeur D Gallais H Gastaut JA Moreau J Tamalet C 《Journal of clinical microbiology》2004,42(2):570-577
The susceptibility of human immunodeficiency virus type 2 (HIV-2) to protease inhibitors (PI) is largely unknown. We studied HIV-2 protease genes from 21 HIV-2-infected patients who were exposed or not exposed to PI. The aim of this study was (i). to characterize the polymorphism of HIV-2 protease in the absence of drug, (ii). to know whether the HIV-2 protease gene naturally harbors HIV-1 drug resistance codons, and (iii). to identify mutations emerging under PI-selective pressure. Sixty-five HIV-2 RNA or proviral DNA samples were directly sequenced from the plasma or peripheral blood mononuclear cells of 8 patients who had received PI and 13 patients who had never received any antiretroviral. In untreated patients, the highest amino acid variability in HIV-2 protease was observed at positions 14, 40, 43, 46, 65 and 70, and seven codons (10V, 32I, 36I, 46I, 47V, 71V, and 73A) associated with drug resistance in HIV-1 were highly prevalent. In addition, at six positions (positions 7, 46, 62, 71, 90, and 99), the amino acid variability or the amino acid frequencies or both differed significantly in PI-treated and untreated patients, suggesting that mutations 7K-->R, 46V-->I, 62V-->A/T, 71V-->I, 90L-->M and 99L-->F were occurring under PI-selective pressure. At these positions, at least one sample simultaneously harbored both wild-type and mutated codons, while substitutions at positions 62, 71, 90, and 99 were confirmed in a longitudinal analysis. Moreover, the presence of codons 46I and 99F in the absence of drug in HIV-2 subtype B proteases may reflect natural resistance to PI. In conclusion, the present study revealed that HIV-2 strains harbor specific patterns of natural polymorphism and resistance. 相似文献
5.
E Beraud M M Golstein F Viallet B A Sela R Galibert J P Durbec R Khalil J L Gastaut P Richard H Roux 《Autoimmunity》1990,6(1-2):13-21
Cell-mediated immunity (CMI) to myelin components has been implicated in Multiple Sclerosis (MS) pathogenesis: two targets were suggested, Myelin Basic Protein with controversial results and, more recently, gangliosides. In order to investigate their possible involvement, we have performed Leukocyte Migration inhibition (LMI) tests in the presence of human brain gangliosides. Thirty nine MS patients (twenty four being "definite", according to McDonald and Halliday's classification), twenty nine patients with Other Neurological Diseases (OND), thirty six patients with Inflammatory diseases (ID) and forty healthy controls were tested. MS patients were divided into two groups, depending on the clinical stage of the disease. The mean migration inhibition percentage of the MS-attack group was found to be significantly different from the four others (p less than 0.01) (24.4 +/- 16.2 versus 10.9 +/- 8.5 in MS without attack, 4.4 +/- 12.9 in OND, 3.9 +/- 13.9 in ID and 11.1 +/- 12.1 in healthy subjects). LMI to gangliosides is therefore significantly increased during the attack stage in MS. These results support the notion of a Delayed Type Hypersensitivity to these glycolipids during the active stage of the disease. 相似文献
6.
G Serratrice G Salamon M Jiddane J L Gastaut J F Pellissier J Pouget 《Revue neurologique》1985,141(5):404-412
CT Scan examination in 145 cases of neuromuscular diseases yielded the following results: Diagnosis between myogenic and neurogenic process is inconstant and cannot be considered as absolute. In myogenic diseases the X ray density of muscle is early decreased with a preservation of muscle outline. In neurogenic diseases muscle volume is early decreased. Coexistence of atrophic and hypertrophic muscles indicates primarily muscle disease. Some patterns of involvement appear to be frequent. In Duchenne's dystrophy a contrast exists between atrophic "empty" or hypertrophic muscles during the ambulatory period and "ghostly" muscles during the terminal period. In facio-scapulo-humeral muscular dystrophy, tibialis anterior and hamstring muscles have often a decreased density and psoas muscles are normal or hypertrophic. In myotonic dystrophy a hypodense perifemoral crescent is frequently observed. Diagnosis between limb-girdle myopathy ("empty" muscles with preserved limits, hypertrophic muscles, hypodense gastrocnemius medialis muscles) and chronic spinal amyotrophy (irregular and atrophic muscles without selective involvement and hypertrophic muscles) is tentatively proposed but is not considered to be clear-cut. Muscle involvement has an asymmetric distribution in amyotrophic lateral sclerosis and is rather symmetric in peripheral neuropathies. 相似文献
7.
Among 500 epileptic patients studied by Computerized Tomography, 11 patients presented an occipital porencephaly (or a dilation of the occipital horn with a "porencephalic" aspect) sometimes associated with a ventricular dilation. These 11 patients represented 2.2% of our patients and 5% of those less than 20 yr of age which is frequent in relation to lesions of the same type having a different topography. Clinical and EEG studies of these 11 patients revealed hemiplegia or hemiparesis in 8 cases, hemianopsia in 7 cases, a severe partial epilepsy in 6 cases which was temporal in 5 patients, a secondary generalized epilepsy in 3 cases, and an epilepsy unable to be classified in 2 cases. The "porencephalies" responsible for these clinical signs are most likely of encephalomalacic origin, secondary to circulatory troubles in the peri- or postnatal period. Remillard et al. maintain that perinatal occlusion of the posterior cerebral artery is responsible. However, in our personal series, the results obtained from CT, PEG and angiography do not permit us to be as affirmative as to the vascular etiology responsible. 相似文献
8.
Quadricipital myopathies are often mentioned but have been described in only about 10 papers. Based on a review of the literature and 10 personal cases, the term "quadricipital amyotrophic syndrome" is proposed for a group of affections which can currently be divided into: 1) primary muscular dystrophies: pure quadricipital myopathy, quadricipital myopathy "plus", lumbopelvifemoral myopathy though it is doubtful whether the latter should be included; 2) metabolic muscular disorders; 3) chronic polymyositis localized to the quadriceps; 4) spinal amyotrophy localized to the quadriceps. 相似文献
9.
M Mohty W Jacot C Faucher J O Bay C Zandotti L Collet B Choufi K Bilger O Tournilhac N Vey A M Stoppa D Coso J A Gastaut P Viens D Maraninchi D Olive D Blaise 《Leukemia》2003,17(11):2168-2177
In the setting of reduced-intensity conditioning (RIC) regimens for allogeneic stem cell transplantation (allo-SCT), the epidemiology of transplant-related infections is still poorly defined. In 101 high-risk patients who received an HLA-identical sibling allo-SCT after RIC, including fludarabine, busulfan and antithymocyte globulin (ATG), we report during the first 6 months a cumulative incidence of positive CMV antigenemia of 42% (95% CI 32-52%), developing at a median of 37 (range 7-116) days without evidence of CMV disease (median follow-up, 434 days). The cumulative incidence of bacteremia was 25% (95% CI 17-33%), occurring at a median of 67 (range 7-172) days, while patients had recovered a full neutrophil count. In all, 65% of the bacteremia (95% CI 49-81%) were gram negative. The cumulative incidence of fungal infections was 8% (95% CI 3-13%), with a median onset of 89 (range 7-170) days. In multivariate analysis, stem cell source (bone marrow; P=0.0002) was significantly associated with the risk of positive CMV antigenemia, while higher doses of prednisone (>2 mg/kg) represented the major risk factor for bacteremia (P=0.0001). Infectious-related mortality was 5% (95% CI 1-9%), with aspergillosis being the principal cause. Collectively, these results suggest that prospective efforts are warranted to develop optimal antimicrobial preventive strategies after RIC allo-SCT. 相似文献
10.
Dominique Rey Maria-Patrizia Carrieri Bruno Spire Sandrine Loubière Pierre Dellamonica Hervé Gallais Gilles-Patrice Cassuto Jean-Albert Gastaut Yolande Obadia the MANIF Study Group 《Journal of urban health》2004,81(1):48-57
The last international consensus conference about hepatitis C virus (HCV) treatment emphasized the importance of treatment
for persons coinfected with HCV and human immunodeficiency virus (HIV). As liver biopsy precedes treatment, we aimed to identify
factors associated with the performance of liver biopsy among HIV-HCV coinfected drug users during a 5-year follow-up to study
their access to HCV treatment. Of the 296 patients followed in the HIV hospital departments of Nice and Marseilles and with
retrievable records about HCV diagnosis and care, 166 were eligible for analysis having had detectable HCV RNA at least once
during the study period. Overall, 45.2% of patients underwent liver biopsy during follow-up. Using proportional hazard models,
predictors of having had a liver biopsy were high social support, complete abstinence from drug injection, and lack of immunosuppression
as well as male gender, no history of multiple incarcerations, more recent onset of drug use, and an increase of liver enzyme
levels. These results suggest that specific efforts should be devoted to HIV-HCV coinfected drug users to assist with stabilizing
these patients to optimize their access to HCV care whenever possible.
The MANIF 2000 study group includes C. Boirot, A. D. Bouhnik, M. P. Carrieri, J. P. Cassuto, M. Chesney, P. Dellamonica, P.
Dujardin, S. Duran, J. G. Fuzibet, H. Gallais, J. A. Gastaut, G. Lepeu, D. A. Loundou, C. Marimoutou, D. Mechali, J. P. Moatti,
J. Moreau, M. Nègre, Y. Obadia, I. Poizot-Martin, C. Pradier, D. Rey, C. Rouzioux, A. Sobel, B. Spire, F. Trémolières, and
D. Vlahov. 相似文献