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111.
112.
Helena Malmgren Karl-Henrik Gustavson Jan Wahlstrm Ingrid Arpi-Henriksson Jurgen Bensch Ulf Pettersson Niklas Dahl 《American journal of medical genetics. Part A》1992,44(6):830-833
Twenty-two members of 18 families with autism have been examined for the presence of mutations and abnormal methylation in the FMR-1 region at Xq27.3. All patients fulfilled diagnostic criteria of infantile autism. A characteristic pattern of insertion and methylation were detected after Southern blot analysis in 7 autistic individuals expressing the fragile site at Xq27.3. Normal DNA patterns were observed in 15 autistic boys cytogenetically negative for the fragile site. The results indicate a lack of involvement of the FMR-1 region in infantile autists negative for fragile X expression. © 1992 Wiley-Liss, Inc. 相似文献
113.
S Ferré T Guix J Sallés A Badia P Parra F Jané M Herrera-Marschitz U Ungerstedt M Casas 《European journal of pharmacology》1990,179(3):295-299
We present evidence showing that paraxanthine (1,7-dimethylxanthine), the main metabolite of caffeine in man, displaces the binding of [3H]SCH 23390, a radioligand which selectively labels dopamine D-1 receptors when used at low concentrations, from striatal membranes of the rat. The displacement was competitive and indicated the existence of two affinity states (Hill coefficient = 0.49; K(high) = 0.15 microM; K(low) = 95.9 microM, %R(high) = 32.4). When the stable GTP analog Gpp(NH)p was included, the displacement curve indicated the presence of only the low-affinity state (Hill coefficient = 1.16; Ki = 72.1 microM). However, paraxanthine did not displace the specific binding of [3H]spiperone. After injection of 30 mg/kg s.c. of caffeine, a maximum of 10 microM of paraxanthine was found in striatal homogenates, which could be sufficient to occupy dopamine D-1 receptors. Our results suggest that a dopaminergic action of paraxanthine could be involved in the behavioural stimulation produced by caffeine. 相似文献
114.
Children With Chronic Physical Disorders: Maternal Reports of Their Psychological Adjustment 总被引:7,自引:4,他引:3
Wallander Jan L.; Varni James W.; Babani Lina; Banis Heather Tweddle; Wilcox Karen Thompson 《Journal of pediatric psychology》1988,13(2):197-212
Advances in biomedical science have resulted in dramatic improvementsin the medical care of chronically ill and handicapped children.Past measurement problems have resulted in a lack of clarityregarding the psychological adjustment of these children. Themothers of 270 chronically ill and handicapped children wereadministered the Child Behavior Checklist in an attempt to identifypatterns of behavioral functioning across six pediatric chronicdisorders: juvenile diabetes, spina bifida, hemophilia, chronicobesity, juvenile rheumatoid arthritis, and cerebral palsy.In general, it was found that children in all chronic disordergroups were perceived by their mothers as evidencing on theaverage more behavioral and social competence problems thanexpected based on norms for children in general. However, theirbehavioral and social adjustment was reported as better thanthat of a normative sample of children referred to mental healthclinics. There were essentially no differences between childrenwith different chronic disorders in terms of behavior problemsand social competence. The results were taken to support theview that these children were as a group at risk for adjustmentproblems. They were also discussed in terms of the noncategorialapproach, which suggests that similar psychosocial challengesare faced across pediatric chronic physical disorders. 相似文献
115.
Ruprecht Nitschke Charles Pratt Michael Harris Jeffrey Krischer Teresa J. Vietti Holcombe Grier Willem Kamps Stuart Toledano 《Investigational new drugs》1992,10(2):93-96
CHIP (325 mg/M2), a second generation cisplatin derivative, was administered intravenously every 3 weeks to 85 pediatric patients with recurrent sarcomas (19), osteosarcomas (20), neuroblastoma (23), germ cell tumors (10), and other malignant tumors (7). Thirty-eight of them had been previously exposed to cisplatin. Partial remissions were only observed in 3 of 23 (13% SE=7%) patients having neuroblastoma. Severe thrombocytopenia (65%) and neutropenia (35%) were the dose limiting factors. 相似文献
116.
TomJ. Snijders Frank-Erik Leeuw UrsulaM.H. Klumpers L.Jaap Kappelle Jan Gijn 《Journal of neurology》1992,239(Z2):S1-S3
Oral session 1: General neurology 相似文献
117.
B. Willem Schreurs Pieter T. J. Spierings Rik Huiskes Tom J. J. H. Slooff 《Acta orthopaedica》1988,59(4):403-409
We investigated four acrylic cement preparation techniques for their effects on cement porosity: hand mixing, pressurization in a pneumatic pistol, centrifugation, and vacuum mixing. All the techniques were tested on three types of cement with different viscosity characteristics. The best results were obtained with vacuum mixing using a newly designed experimental system, yielding porosity reductions of 60-80 percent relative to hand mixing. Vacuum mixing with a commercial system was also effective, but to a somewhat lesser extent.
Pressurization and centrifugation had no substantial effect on the overall porosity. Centrifugation led to considerable nonuniformity in the distribution of pores and additives. 相似文献
Pressurization and centrifugation had no substantial effect on the overall porosity. Centrifugation led to considerable nonuniformity in the distribution of pores and additives. 相似文献
118.
Jan Lycke Bo Svennerholm Anders Svenningsson Walter Muranyi Rolf M. Flügel Oluf Andersen 《Journal of neurology》1994,241(4):204-209
The role of human spumaretrovirus (HSRV) infections in the pathogenesis of multiple sclerosis (MS) was investigated with recombinant HSRV env-specific enzyme-linked immunosorbent assay. The presence of HSRV antibodies was determined in pairs of serum and cerebrospinal fluid (CSF) samples from 60 MS patients. In 7 of these patients serial serum and CSF samples were obtained in relation to the clinical activity of the disease during a period of 2 years. No increased antibody reactivity was demonstrable in the MS population compared with 14 aseptic meningitis patients, 50 blood donors and 16 healthy controls. Slightly elevated levels of antibodies were demonstrable in serum and/or CSF in 4 MS patients but also in 1 patient with aseptic meningitis, 1 blood donor and 1 child. No marked serum or CSF HSRV antibody fluctuation was observed in the MS patients followed longitudinally. Thus, this study does not support the involvement of HSRV in the pathogenesis of MS. 相似文献
119.
Hein Heidbüchel Domenico Corrado Allessandro Biffi Ellen Hoffmann Nicole Panhuyzen-Goedkoop Jan Hoogsteen Pietro Delise Per Ivar Hoff Antonio Pelliccia 《European journal of cardiovascular prevention and rehabilitation》2006,13(5):676-686
This consensus paper on behalf of the Study Group on Sports Cardiology of the European Society of Cardiology follows a previous one on guidelines for sports participation in competitive and recreational athletes with supraventricular arrhythmias and pacemakers. The question of imminent life-threatening arrhythmias is especially relevant when some form of ventricular rhythm disorder is documented, or when the patient is diagnosed to have inherited a pro-arrhythmogenic disorder. Frequent ventricular premature beats or nonsustained ventricular tachycardia may be a hallmark of underlying pathology and increased risk. Their finding should prompt a thorough cardiac evaluation, including both imaging modalities and electrophysiological techniques. This should allow distinguishing idiopathic rhythm disorders from underlying disease that carries a more ominous prognosis. Recommendations on sports participation in inherited arrhythmogenic conditions and asymptomatic gene carriers are also discussed: congenital and acquired long QT syndrome, short QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, arrhythmogenic right ventricular cardiomyopathy and other familial electrical disease of unknown origin. If an implantable cardioverter defibrillator is indicated, it is no substitute for the guidelines relating to the underlying pathology. Moreover, some particular recommendations for patients/athletes with an implantable cardioverter defibrillator are to be observed. 相似文献
120.
Alan G. Fraser Peter T. Buser Jeroen J. Bax Willem R. Dassen Petros Nihoyannopoulos Jürg Schwitter Juhani M. Knuuti Martin Höher Frank Bengel András Szatmári 《European journal of nuclear medicine and molecular imaging》2006,33(8):955-959
Advances in medical imaging now make it possible to investigate any patient with cardiovascular disease using multiple methods which vary widely in their technical requirements, benefits, limitations and costs. The appropriate use of alternative tests requires their integration into joint clinical diagnostic services where experts in all methods collaborate. This statement summarises the principles that should guide developments in cardiovascular diagnostic services.This paper is published simultaneously in the European Heart Journal (2006;27:1750–1753) and in the European Journal of Echocardiography (2006;7:268–273). 相似文献