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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    Molecular and cellular biochemistry 174 (1997), S. 271-275 
    ISSN: 1573-4919
    Keywords: multiple symmetric lipomatosis ; mitochondrial DNA ; MERRF
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Chemistry and Pharmacology , Medicine
    Notes: Abstract Multiple symmetric lipomatosis (MSL) is a rare disorder of middle life characterized by large subcutaneous fat masses around the neck, shoulders and other parts of the trunk. Peripheral neuropathy is a common finding in these predominantly male patients. Employing electrophysiological measures, we found additional signs of central nervous system involvement in a majority of patients. Etiologically, there is an association with mitochondrial dysfunction. In muscle biopsy, we found ragged red fibers in 8 of 12 patients. Molecular genetic analysis revealed multiple deletions of mitochondrial DNA in one patient and the MERRF mutation at nucleotide 8344 in another. In this review, we summarize our clinical, electrophysiological morphological, biochemical and molecular genetic findings in 17 MSL patients, and give a survey of the literature. (Mol Cell Biochem 174: 271–275, 1997)
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1619-1560
    Keywords: Guillain-Barré syndrome ; autonomic dysfunction ; bradyarrhythmia ; heart rate variability ; power spectrum analysis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract This study was undertaken to determine the nature of brady-arrhythmic events and their relationship to motor disability, disease stages and tachycardia in patients with Guillain-Barré syndrome, and to investigate the potential of the 24-hour heart rate power spectrum (HRPS) for the detection of serious bradyarrhythmias in individual patients. Thirty-five consecutive patients with Guillain-Barré syndrome who were admitted to the authors' intensive care unit were studied. In all patients, the heart rate was continuously recorded during the early stages of the disease, averaged at 1-minute intervals, and stored for 1 to 87 days. The HRPS (n=556, 16±19 per patient; median, 9) was calculated by Fourier analysis of 24-hour recordings and logarithmically transformed. The slope was estimated by regression analysis of log (power) on log (frequency) between 10−4 and 4×10−3 Hz, showing an inverse power law behavior in all 556 HRPSs. Eleven patients (31%) had serious bradyarrhythmias. Most of these patients were not dependent on mechanical ventilation, with 3 of 11 patients (27%) still being able to walk more than 5 meters. Sustained tachycardia occurred less frequently in patients with than in those without bradyarrhythmias. The combination of the slope of the power law regression line and the log (power) at 10−4 Hz (log P4) of the 24-hour HRPS correctly identified 8 of 11 bradyarrhythmic patients (sensitivity 73%) and 16 of 22 patients with Guillain-Barré syndrome who did not have bradyarrhythmias (specificity 73%). All bradyarrhythmic patients could be detected in the subgroup of patients without sustained tachycardia. The 24-hour HRPS is a powerful predictor of serious autonomic complications in patients with Guillain-Barré syndrome and may help to identify patients at risk of potentially life-threatening arrhythmias.
    Type of Medium: Electronic Resource
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