[Kleine-Levin syndrome. A propos of a case].
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Biomedical subjects
Publications and source records attributed to C Billard.
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The pattern of expression of two distal transcripts initiated in the 62nd intron of the dystrophin gene was investigated under different circumstances; (i) during the development of different rat tissues these transcripts and Dp71, a protein encoded by one of them, increased with brain development and decreased with muscle development; (ii) in cultured glial and neuronal cells, the distal promoter was coactivated with tissue-specific upstream promoters, the muscle-type promoter in glial cells and the brain-type promoter in neuronal cells, which suggests that activity of the upstream promoter does not interfere with activity of the distal promoter; (iii) in lymphoblasts of DMD patients with various deletions of the dystrophin gene, the most distal of which included the 56th intron, the production of the distal transcript was not perturbed.
The in vitro effects of bacteria-produced human interferons alpha 2, beta and gamma on several properties of peripheral blood leukocytes from different healthy donors were compared. Treatment with HuIFN-alpha 2 or HuIFN-beta resulted in inhibition of the proliferative response to phytohaemagglutinin and in closely parallel induction of 2'-5'-oligoadenylate synthetase activity. In contrast, HuIFN-gamma had no significant effect on these two activities. However, all three HuIFN were able to enhance natural killer cell cytotoxicity and the expression of HLA-DR surface antigens, with only quantitative variations from donor to donor. Similar results were observed with glycosylated recombinant hamster-cell-derived HuIFN-gamma and with natural HuIFN-gamma. These data demonstrate qualitative differences in the effects of HuIFN-gamma compared to those of HuIFN-alpha 2 or -beta on cells of the immune system.
Fifteen patients with neurofibromatosis type one (NF1) and West syndrome (WS) were studied. The evolution of WS was clearly different from that seen in the other neurocutaneous syndromes, especially tuberous sclerosis. Steroids were efficacious and spasms disappeared. There was no relapse after discontinuation of steroids and antiepileptic drugs were successfully stopped several years later. Mental outcome was also very good. The association of both conditions does not seem to be a coincidence. WS with NF1 seems remarkably benign and resembles idiopathic WS more than symptomatic WS.
The long-term intellectual prognosis of nontumoral hydrocephalus is described: 75% of the population have a full intellectual quotient greater than 70. But often, there is a heterogeneous pattern of the intellectual quotient with a great difference between verbal and performance results because of poor visuospatial skills. Disabilities of syntactical comprehension of language are also encountered. Sex, age, delay before shunting and frequency of shunt complications are not related to intelligence level or pattern. Meningitis and toxoplasmosis often result in a poor intelligence level, but other etiologies do not influence intelligence level or pattern. Visuospatial deficits, attention disorders and language disabilities are independent of the degree of hydrocephalus but are especially encountered when ventricular dilatation persists in spite of the operation.
We investigated the correlations between the in vivo-in vitro induction of 2'-5' oligoadenylate synthetase (2-5A synthetase) by IFN-alpha in cells isolated from patients with low-grade nodular non-Hodgkin's lymphoma (NHL) and subsequent clinical responses of these patients to IFN-alpha therapy. Eleven patients were treated daily with 9 x 10(6) U of IFN-alpha 2a in a phase II trial. After an eight week treatment, four patients achieved complete remission, one a partial response, one a minor response, and five failed to respond. Basal levels of 2-5A synthetase in lymph node tumor B cells and peripheral blood mononuclear cells (PBMC) isolated before therapy differed from patient to patient and were significantly lower than in PBMC from healthy donors (P less than 0.03). In vivo single injections of 9 x 10(6) U IFN-alpha 2a induced the 2-5A synthetase in PBMC from all patients to various degrees without quantitative relation to the clinical responses. Injection of a tenfold lower dose resulted in effects of similar extent in most cases. In vitro, IFN-alpha 2a induced the 2-5A synthetase in lymph node tumor B cells isolated before therapy, and the degree of induction was significantly higher in patients who proved to respond to therapy than in patients who displayed no or minor responses (P less than 0.013). This indicates that, in nodular NHL, the 2-5A synthetase assay may have some predictive value for responsiveness to IFN-alpha therapy.
The effect of in vivo administered interferon-alpha (IFN-alpha) on 2-5-oligoadenylate (A) synthetase activity of peripheral blood mononuclear cells (PBMC) was compared in patients with hairy cell leukemia and renal cell cancer. Basic levels of this enzyme varied from donor to donor, but mean levels were not significantly different in patients with renal cell cancer or hairy cell leukemia compared to healthy donors. After a single injection of 3 x 10(6) IU IFN, these basic levels rose 2- to 8-fold within 12-24 h post-injection and reverted to pretreatment levels after 48 h. The extent of this in vivo stimulation by IFN-alpha was similar in patients with hairy cell leukemia and renal cell carcinoma, and was correlated with down-regulation of IFN-alpha receptors. The in vitro effects of IFN-alpha, -beta and -gamma were compared after 18 h treatment with 10, 10(2) and 10(3) IU/ml of each IFN. Unlike IFN-alpha and -beta, IFN-gamma did not induce 2-5 A synthetase activity in either normal PBMC or hairy cells; these results were related to the effects of the three IFN on proliferative response of normal PBMC to phytohemagglutinin. Our data support the idea that 2-5 A synthetase activity is a marker of biological response to interferon treatment in human cancers.
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Early and long-lasting phenobarbital plasma levels were obtained by the following schedule in children presenting with convulsions who remained at risk for early relapse: a load dose of 15 mg/kg, followed 12 hours later by the administration of 5 mg/kg in children under 1 year of age and 3 mg/kg in older children; further maintenance doses were 3 mg/kg every 24 hours for 10 days in all children. No child presented with any convulsion in the period of time studied. The mean phenobarbital plasma levels were, from the 1st to the 88th hour, between the values considered as effective (12.6 and 22.3 mg/l). These values were always lower in children under 1 year of age, except for the 1st hour.