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  • Electronic Resource  (4)
  • Friedreich's ataxia  (2)
  • ATIII replacement therapy  (1)
  • Auditory evoked potentials  (1)
  • 1
    Electronic Resource
    Electronic Resource
    Antithrombin III (ATIII) replacement therapy in patients with sepsis and/or postsurgical complications: a controlled double-blind, randomized, multicenter study (1998)
    Springer
    Intensive care medicine 24 (1998), S. 336-342 
    Details
    ISSN: 1432-1238
    Keywords: Key words Acquired ATIII deficiency ; ATIII replacement therapy ; Septic shock
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Background: ATIII is decreased in sepsis and/or shock and its baseline value correlates with mortality. The efficacy of ATIII therapy on mortality was assessed in a selected group of patients admitted to the intensive care unit (ICU) in a double-blind, randomized, multicenter study. Methods: 120 patients admitted to the ICU with an ATIII concentration 〈 70 % were randomized to receive ATIII (total dose 24 000 units) or placebo treatment for 5 days; 56 patients had septic shock. Results: ATIII concentrations in the treated group remained constant throughout the treatment period (range 97–102 %). The Kaplan- Meier analysis showed no difference in overall survival between the two groups: 50 and 46 % for ATIII and placebo, respectively. Septic shock and hemodynamic support were unbalanced in the two groups at admission. Therefore the Cox analysis was carried out after adjusting for these two variables. Treatment with ATIII decreases the risk of death with an odds ratio (OR) of 0.56. Of the covariates analyzed, septic shock and the baseline multiple organ failure score were negatively associated with survival and plasma activity level was positively associated with survival with an OR of 0.97 for each 1 % increase in the ATIII plasma concentration at baseline. Conclusions: The results of ATIII treatment in this population of patients suggests that replacement therapy reduces mortality in the subgroup of septic shock patients only.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001340050576
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Abnormal auditory evoked potentials in Déjérine-Sottas disease (1984)
    Springer
    Journal of neurology 231 (1984), S. 46-49 
    Details
    ISSN: 1432-1459
    Keywords: Hereditary motor sensory neuropathy ; Déjérine-Sottas disease ; Auditory evoked potentials
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Es wird über zwei Fälle von hereditärer motorischer und sensorischer Neuropathie vom Typ-III (Déjérine-Sottas-Krankheit) berichtet, welche otoneurologisch und elektrophysiologische eingehend untersucht wurden. In beiden Fällen fand man Hinweise dafür, daß die vestibulären und akkustischen zentralen Bahnen mitbetroffen sind. Dies läßt darauf schließen, daß bei dieser Erkrankung die Myelinstrukturen nicht nur in den peripheren Nerven sondern auch im Zentralorgan betroffen sein können.
    Notes: Summary Two cases of hereditary motor sensory neuropathy type III (Déjérine-Sottas disease) examined by audiological, vestibular and electrophysiological methods are reported. In both cases there were signs of vestibular and acoustic central pathway involvement, shown by vestibular examination and by the study of auditory evoked potentials. The presence of central involvement in this hereditary neuropathy suggests central as well as peripheral myelin alteration.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00313652
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Friedreich's ataxia I. Clinical, Neurophysiological and in vivo biochemical studies (1979)
    Springer
    Neurological sciences 1 (1979), S. 231-238 
    Details
    ISSN: 1590-3478
    Keywords: Friedreich's ataxia ; Neuropathy ; Pyruvate test ; Lipoamide dehydrogenase ; Cardiomyopathy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Sommario Si presenta uno studio clinico, neurofisiologico e biochimico di 18 pazienti con diagnosi presuntiva di atassia di Friedreich. I dati portano ad inquadrare nella malattia di Friedreich tipica solo 14 pazienti, gli altri 4 si differenziano per diversi aspetti clinici di cui il più rilevante è la normalità cardiaca. Si conclude quindi che per giungere alla diagnosi di malattia di Friedreich che permetta in seguito uno studio biochimico della malattia, sia necessario un approccio multidisciplinare.
    Notes: Abstract Eighteen patients with the presumptive diagnosis of Friedreich's ataxia were studied. Clinical, neurophysiological and biochemical data were concordant in 14 patients and led to the diagnosis of typical Friedreich's ataxia in this group of patients: the remaining 4 patients differed from the typical patients in several respects but mainly in the cardiological findings. It is concluded that so far no single clinical or laboratory finding is typical of F.A.. Multidisciplinary approaches are essential to the diagnosis of Friedreich's ataxia.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02336703
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    Paper (German National Licenses)
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  • 4
    Electronic Resource
    Electronic Resource
    Friedreich's ataxia II. Biochemical studies in cultured cells (1979)
    Springer
    Neurological sciences 1 (1979), S. 239-243 
    Details
    ISSN: 1590-3478
    Keywords: Pyruvate-dehydrogenase ; Carnitine-acetyltransferase ; Glutamate-dehydrogenase ; Friedreich's ataxia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Sommario L'ossidazione del piruvato e del palmitato misurata nei fibroblasti in cultura di pazienti affetti da malattia di Friedreich è risultata normale. Il dosaggio del complesso enzimatico piruvico deidrogenasi è invece risultato significativamente diminuito rispetto ai controlli nelle cellule di questi pazienti quando i fibroblasti venivano omogenizzati in glicerolo. Questa diminuzione però non era più evidente se le cellule venivano sonicate. Questi dati suggeriscono che il deficit del complesso PDH nei pazienti con atassia di Freidreich non sia un difetto primario ma rifletta piuttosto anomalie di membrana.
    Notes: Abstract Pyruvate and palmitate oxidations by cultured fibroblast suspensions were measured in optimized conditions and proved to be with normal range in the cells from Friedreich's patients. But when pyruvate oxidation was measured by direct assay of the pyruvate dehydrogenase complex, this enzyme activity proved to be significantly lower in Friedreich's than in controls' cells. These abnormalities were not observed when the cells were sonicated. Moreover, lipoamide dehydrogenase activity Km and Vmax were within the normal range in Friedreich's cells. These data suggest that the low activities of the PDH complex are not a primary defect in Friedreich's ataxia but are more likely to be related to membrane abnormalities in Friedreich's cells.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02336704
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    Paper (German National Licenses)
    Fulltext
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