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31.
32.
E. Brodtkorb T. Torbergsen K. O. Nakken K. Andersen R. Gimse O. Sjaastad 《Acta neurologica Scandinavica》1994,90(4):232-240
Introduction – Arthrogryposis multiplex congenita (AMC) may be associated with multiple developmental defects. In some severely affected newborns with AMC, autopsy studies have suggested a common mechanism of malmigration at the spinal and cerebral levels. To our knowledge, a constellation of arthrogryposis, epileptic seizures, and brain migrational anomalies in adult patients has not previously been described in a clinical material. Material and methods – Six consecutive adult patients with arthrogryposis multiplex congenita and epileptic seizures form the basis of the present study. Five patients had joint contractures and reduced muscle volume restricted to the lower extremities, whereas one patient had predominantly upper extremity affection. They were studied with magnetic resonance imaging (MRI), EEG, EMG, a neuropsychological test battery, and chromosome analysis. Results – Four of them had clear evidence of migrational brain disorders, demonstrated by MRI, in three of them roughly corresponding to the focal epileptiform EEG activity. Five of the patients had partial seizures, whereas one only had generalized tonic-clonic seizures. The MRI findings included polymicrogyria, pachygyria, and fused schizencephaly. Four had neurogenic EMG changes, one had myopathic EMG features, and one had an unremarkable EMG pattern in affected muscles. All patients witL demonstrable migrational disorders showed abnormal neuropsychological features. Three patients were mentally retarded. A chromosome abnormality in the form of a ring chromosome 18 was present in one patient. Conclusion – We suggest that AMC, epileptic seizures, and migrational brain disorders may form the integral parts of a hitherto undescribed syndrome in adults. A wide-spread defect in neuronal migration along the entire neural axis may be the underlying mechanism of the cerebral and the peripheral symptoms. 相似文献
33.
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
34.
The retention of [99mTc]-d,l-HM-PAO in the human brain after intracarotid bolus injection: a kinetic analysis 总被引:1,自引:0,他引:1
N A Lassen A R Andersen L Friberg O B Paulson 《Journal of cerebral blood flow and metabolism》1988,8(6):S13-S22
[99mTc]-d,l-HM-PAO (HM-PAO) was injected rapidly into the internal carotid artery and its retention in the brain was recorded by external scintillation cameras in eight human subjects. A model is described based on three compartments: the lipophilic tracer in the blood pool of the brain, the lipophilic tracer inside the brain, and the hydrophilic form retained in the brain. The retention curve initially drops abruptly, corresponding to the nonextracted fraction of the injectate leaving the brain; it then falls exponentially towards the asymptotic level of the fractional steady-state retention R. Cerebral blood flow (F) was measured using the xenon-133 intracarotid injection method. The first-pass extraction E of HM-PAO was calculated from F using an empiric regression equation. The residue curves for the whole brain after intracarotid HM-PAO injection were analyzed to yield a retention fraction (R') and the brain clearance backflux constant of lipophilic HM-PAO (k). From the kinetic model and the measured values of R', k, and F, the following parameter values could be calculated: the average retained fraction of all tracer supplied to the brain, R = 0.38 +/- 0.05 (mean +/- SD), the conversion rate constant (lipophilic to hydrophilic tracer) in the brain k3 = 0.80 +/- 0.12 min-1, the efflux rate constant (brain to blood) k2 = 0.69 +/- 0.11 min-1, the conversion/clearance ratio alpha = k3/k2 = 1.18 +/- 0.25, the influx (blood clearance) constant K1 = 0.45 +/- 0.11 ml/g/min, and the brain/blood partition ratio lambda = K1/k2 = 0.67 +/- 0.23 ml/g. Using the kinetic model and assuming constancy of alpha, an algorithm was developed that corrects for the blood flow dependent backflux of HM-PAO and results in a more linear relation between regional cerebral blood flow (rCBF) and HM-PAO distribution. 相似文献
35.
We present an 8 year follow-up on a group of children with refractory epileptic seizures who participated in the early 1980s in a controlled group study on the effects of a broad-spectrum behavior modification treatment program on children with refractory epileptic seizures. In the original study, 18 children were divided into three groups: behavior modification group, attention control group, and control group. The purpose was to investigate the effects of a learning-based treatment program superimposed on a regular medical treatment program. Also, the effects of professional attention were evaluated. At the 10 week and 1 year follow-ups, only the group receiving the behavior modification intervention had a significantly reduced rate of seizure index. The present study investigates these same children 8 years later using the same methods of investigation for an additional 10 week period. The results indicate that a significant reduction in seizures was obtained only for the behavior modification group at the 8 year follow-up. 相似文献
36.
37.
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
38.
39.
S Karlehagen A Andersen C G Ohlson 《Scandinavian journal of work, environment & health》1992,18(1):26-29
Cancer incidence was studied among 922 creosote-exposed impregnators at 13 plants in Sweden and Norway. The subjects had been impregnating wood (eg, railroad cross-ties and telegraph poles), but no data on individual exposures were available. The study population was restricted to men employed during the period 1950-1975, and their cancer morbidity was checked through the cancer registries. The total cancer incidence was somewhat lower than expected, 129 cases versus 137 expected [standardized incidence ratio (SIR) 0.94]. Increased risks in both countries combined were observed for lip cancer (SIR 2.50, 95% confidence interval (95% CI) 0.81-5.83), skin cancer (SIR 2.37, 95% CI 1.08-4.50), and malignant lymphoma (SIR 1.9, 95% CI 0.83-3.78). Exposure to sunlight may have contributed to the risk of lip and skin cancer. The small number of cancer cases does not permit valid conclusions. The findings indicate that impregnating wood with creosote in earlier decades increased the risk of skin cancer. 相似文献
40.
Nearly a billion dollars were made available to state health departments through federal grants in the spring of 2002 for public health emergency preparedness plans. Twenty-one states had already been participating for some years in The Robert Wood Johnson Foundation's Turning Point Initiative. This article illustrates how earlier practice and experience in developing cross-sector collaborations and institutionalizing a model of broad-based partnerships for public health decision making can increase effectiveness and efficiency in responding to a call for action around an emergency. 相似文献