排序方式: 共有24条查询结果,搜索用时 15 毫秒
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Increased plasma levels of cytokines after seizures in localization-related epilepsy 总被引:2,自引:0,他引:2
Lehtimäki KA Keränen T Palmio J Mäkinen R Hurme M Honkaniemi J Peltola J 《Acta neurologica Scandinavica》2007,116(4):226-230
OBJECTIVES: Experimental studies suggest increased cerebral production of inflammatory cytokines after prolonged seizures. Whether a single non-prolonged seizure in human patients is associated with activation of cytokine network is still unknown. MATERIALS AND METHODS: We studied the levels of interleukin-1beta (IL-1beta), interleukin-1 receptor antagonist (IL-1ra), interlukin-6 (IL-6) and soluble IL-6 receptors (sIL-6R and Gp130) in plasma after single seizures during video-EEG recordings in patients with chronic localization-related epilepsy. RESULTS: The levels of IL-1ra and IL-6 were increased after seizures, whereas IL-1beta and IL-6 cytokine receptors remained unchanged. CONCLUSIONS: These results show that only single seizures cause activation of cytokine cascade and associated inflammatory signals. In the case of recurrent seizures, these signals may result in structural changes in the nervous tissue, which are generally associated with drug refractory epilepsy. 相似文献
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Sainio Markus T. Välipakka Salla Rinaldi Bruno Lapatto Helena Paetau Anders Ojanen Simo Brilhante Virginia Jokela Manu Huovinen Sanna Auranen Mari Palmio Johanna Friant Sylvie Ylikallio Emil Udd Bjarne Tyynismaa Henna 《Journal of neurology》2019,266(2):353-360
Journal of Neurology - To describe adult-onset limb-girdle-type muscular dystrophy caused by biallelic variants in the PYROXD1 gene, which has been recently linked to early-onset congenital... 相似文献
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Hackman P Sandell S Sarparanta J Luque H Huovinen S Palmio J Paetau A Kalimo H Mahjneh I Udd B 《Neuromuscular disorders : NMD》2011,21(5):338-344
The objective is to refine the clinical and morphological phenotype and the chromosomal region of interest, in the recently reported 7q36 linked autosomal dominant limb-girdle muscular dystrophy (LGMD1 D/E), by describing four new informative Finnish families.Examinations of the patients included serum CK, neurophysiological studies, cardiac and respiratory function examinations, muscle biopsies and muscle imaging. DNA samples were analyzed by genotyping.Patients in all families had very similar phenotypes with onset of muscle weakness in the pelvic girdle muscles between the fourth and sixth decade, later involvement of the shoulder girdle, and marked walking difficulties in the eighth decade. Muscle biopsies showed myopathic and/or dystrophic features. Genotyping confirmed linkage to the same locus at chromosome 7q36 in all families by one identically segregating haplotype. The linked region was narrowed down from <6.3 to <3.4 Mb. Sequencing of the genes in the area is ongoing, aiming to identify the genetic defect. 相似文献
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Johari Mridul Vihola Anna Palmio Johanna Jokela Manu Jonson Per Harald Sarparanta Jaakko Huovinen Sanna Savarese Marco Hackman Peter Udd Bjarne 《Journal of neurology》2022,269(8):4161-4173
Journal of Neurology - Inclusion body myositis (IBM) has an unclear molecular etiology exhibiting both characteristic inflammatory T-cell activity and rimmed-vacuolar degeneration of muscle fibers.... 相似文献
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Palmio J Huuhka M Saransaari P Oja SS Peltola J Leinonen E Suhonen J Keränen T 《Psychiatry research》2005,137(3):183-190
There are indications that mood disorders may be related to perturbations in the amino acid transmitters. The amino acids may thus be targets of treatment of depression. The purpose of this pilot study was to measure the acute effects of a single administration of electroconvulsive therapy (ECT) on the plasma levels of amino acids in depressed patients. ECT was administered to 10 patients with major depressive disorder. Altogether 23 plasma amino acids were analyzed before and at 2, 6, 24 and 48 h after ECT. The levels of glutamate and aspartate increased at 6 h after ECT compared with the baseline. Also the levels of total tryptophan increased 2–24 h after ECT. There were also elevations in other amino acids at 6 and 24 h. The levels of gamma-aminobutyric acid (GABA) decreased at 2 h. In this study the acute effects of single ECT were associated with changes in the levels of glutamate, aspartate, GABA, tryptophan and some other amino acids. The preliminary data suggest that the therapeutic effects of ECT in depression may be due to mechanisms involving these amino acid transmitters. 相似文献
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Autoantibodies to glutamic acid decarboxylase in patients with therapy-resistant epilepsy 总被引:28,自引:0,他引:28
Peltola J Kulmala P Isojärvi J Saiz A Latvala K Palmio J Savola K Knip M Keränen T Graus F 《Neurology》2000,55(1):46-50
BACKGROUND: Autoantibodies to glutamic acid decarboxylase (GAD-A) are present in type 1 diabetes and stiff man syndrome (SMS), and have also been reported in cerebellar ataxia. Epilepsy was present in 4 of 19 patients with SMS and GAD-A, implying that epilepsy sometimes is associated with anti-GAD autoimmunity. METHODS: The authors investigated the prevalence of GAD-A in patients with therapy-resistant localization-related epilepsy (n = 51) and generalized epilepsy (n = 49) by a radiobinding assay. The positive samples were confirmed by immunohistochemistry and immunoblotting of recombinant human GAD65. RESULTS: GAD-A were found in eight patients with localization-related epilepsy, whereas none of the patients with generalized epilepsy, other neurologic disorders (n = 38), or the control subjects (n = 48) had GAD-A. Two patients had high levels of GAD-A, similar to SMS, whereas six patients had significantly lower titers, characteristic of type 1 diabetes. The two patients with high levels of GAD-A had GAD-A both in serum and CSF by immunohistochemistry and immunoblotting. Both of them had longstanding therapy-resistant temporal lobe epilepsy but did not have diabetes. One had a history of autoimmune disease, whereas the other had serologic evidence of multiple autoantibodies without any clinical signs of autoimmune disease. CONCLUSIONS: GAD autoimmunity may be associated with refractory localization-related epilepsy. 相似文献
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Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/β‐Cardiac Myosin (MYH7) Distal Myopathy 下载免费PDF全文
Phillipa J. Lamont William Wallefeld David Hilton‐Jones Bjarne Udd Zohar Argov Alexandru C. Barboi Carsten Bonneman Kym M. Boycott Kate Bushby Anne M. Connolly Nicholas Davies Alan H. Beggs Gerald F. Cox Jahannaz Dastgir Elizabeth T. DeChene Rebecca Gooding Heinz Jungbluth Nuria Muelas Johanna Palmio Sini Penttilä Eric Schmedding Tiina Suominen Volker Straub Christopher Staples Peter Y.K. Van den Bergh Juan J. Vilchez Kathryn R. Wagner Patricia G. Wheeler Elizabeth Wraige Nigel G. Laing 《Human mutation》2014,35(7):868-879
Laing early onset distal myopathy and myosin storage myopathy are caused by mutations of slow skeletal/β‐cardiac myosin heavy chain encoded by the gene MYH7, as is a common form of familial hypertrophic/dilated cardiomyopathy. The mechanisms by which different phenotypes are produced by mutations in MYH7, even in the same region of the gene, are not known. To explore the clinical spectrum and pathobiology, we screened the MYH7 gene in 88 patients from 21 previously unpublished families presenting with distal or generalized skeletal muscle weakness, with or without cardiac involvement. Twelve novel mutations have been identified in thirteen families. In one of these families, the father of the proband was found to be a mosaic for the MYH7 mutation. In eight cases, de novo mutation appeared to have occurred, which was proven in four. The presenting complaint was footdrop, sometimes leading to delayed walking or tripping, in members of 17 families (81%), with other presentations including cardiomyopathy in infancy, generalized floppiness, and scoliosis. Cardiac involvement as well as skeletal muscle weakness was identified in nine of 21 families. Spinal involvement such as scoliosis or rigidity was identified in 12 (57%). This report widens the clinical and pathological phenotypes, and the genetics of MYH7 mutations leading to skeletal muscle diseases. 相似文献