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  • 1
    ISSN: 1433-0407
    Keywords: Schlüsselwörter Clusterkopfschmerz ; Multiple Sklerose ; Symptomatischer Kopfschmerz ; Trigeminovaskuläres System ; Keywords Cluster headache ; Multiple sclerosis ; Trigeminovascular system
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary We describe a 25-year-old male who developed, in the course of an acute exacerbation of his multiple sclerosis, cluster headache-like attacks which responded to oxygen therapy. Magnetic resonance imaging revealed a lesion in the area of the ipsilateral pontomedullary trigeminal nuclei. This symptomatic case and other published cases are most probably explained by an activation of the trigeminovascular system as it is assumed for primary headache syndromes.
    Notes: Zusammenfassung Es wird ein 25-jähriger Patient mit dem klinischen Bild akuter Clusterkopfschmerz-Attacken beschrieben. Diagnostisch handelte es sich um den 3. klinischen Schub einer multiplen Sklerose mit kernspintomographischem Nachweis einer mutmaßlich ursächlichen Entmarkung im Bereich der ipsilateralen pontomedullären Trigeminuskerngebiete. Ausgehend von dem Konzept der Aktivierung des trigeminovaskulären Systems im Rahmen primärer Kopfschmerzsyndrome mit autonomer Mitbeteiligung wird für die symptomatischen Formen eine Aktivierung dieser gemeinsamen Endstrecke diskutiert, wobei noch ungeklärt ist, wie sich die verschiedenen klinischen Verlaufsformen der primären Kopfschmerzsyndrome erklären.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 0003-2697
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Chemistry and Pharmacology
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-1076
    Keywords: Adenylosuccinase deficiency ; Purine metabolism ; Succinylpurines ; Mental retardation ; Autism
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Clinical and biochemical data are presented on eight children with adenylosuccinase deficiency. This newly discovered inborn error of purine metabolism is characterized by an accumulation in body fluids of succinyladenosine (S-Ado) and succinylaminoimidazole carboxamide riboside (SAICA riboside), the dephosphorylated derivatives of the two substrates of adenylosuccinase. Six living children (three boys and three girls) and one deceased sibling displayed severe psychomotor retardation. Epilepsy was documented in five cases, autistic features in three, and growth retardation associated with muscular wasting in a brother and sister. In the cerebrospinal fluid, plasma and urine of these patients, the S-Ado/SAICA riboside ratio was between 1 and 2. In striking contrast, the eighth patient (a girl) was markedly less mentally retarded. Most noteworthy, the S-Ado/SAICA riboside ratio in her body fluids was around 5, suggesting that her milder psychomotor retardation was causally linked to this higher ratio. Adenylosuccinase deficiency was demonstrated in the liver of all seven living children, in the kidney of three patients in whom the enzymatic activity was measured, and in the muscle of three patients, including the two with muscular wasting. In fibroblasts of the six severely retarded patients, adenylosuccinase activity was reduced to approximately 40% of normal; in the patient with the higher S-Ado/SAICA riboside ratio, it reached only 6% of normal. The clinical heterogeneity of adenylosuccinase deficiency justifies systematic screening for the enzyme defect in unexplained neurological disease.
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Adenylosuccinase (ASase) catalyses both the conversion of succinylaminoimidazole carboxamide ribotide (succinyl-AICAR) into AICAR and that of adenylosuccinate into AMP in the synthesis of purine nucleotides. Its deficiency results in the accumulation in body fluids of the nucleosides corresponding to both substrates, succinyl-AICAriboside and succinyladenosine. Two main subtypes of the defect are type I with severe mental retardation and succinyladenosine/succinyl-AICAriboside ratios around 1, and type II with slight mental delay and succinyladenosine/succinyl-AICAriboside ratios around 4. We report that in fibroblasts of type I patients, the activity of ASase with both adenylosuccinate and succinyl-AICAR is about 30% of normal. In contrast, in type II fibroblasts, the activity with adenylosuccinate is only 3% of normal, whereas that with succinyl-AICAR is also 30% of normal. If also present in other tissues, this non-parallel deficiency provides an explanation for the higher concentration of succinyladenosine in type II. In type I fibroblasts, ASase is further characterized mainly by a 3-fold to 4-fold increase inK m for succinyl-AICAR, and by retarded elution from an anion exchanger. In type II fibroblasts, ASase is characterized by a similar increase inK m for succinyl-AICAR but by a potent inhibition by KCl and nucleoside triphosphates, and by a normal elution profile. These results suggest a modification of the surface charge of ASase in type I, and the addition of one or more positively charged residues in the active site in type II.
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    Springer
    Journal of inherited metabolic disease 16 (1993), S. 425-434 
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary In fibroblasts of severely retarded (type I) adenylosuccinase (ASase)-deficient children, activities with the two substrates of the enzyme, succinylaminoimidazole carboxamide ribotide (succinyl-AICAR) and adenylosuccinate are decreased in parallel, to about 30% of normal. In a markedly less retarded (type II) patient, ASase activity with adenylosuccinate reaches only 3% of normal, whereas activity with succinyl-AICAR is also about 30% of normal. To assess the functional significance of a partial versus a profound deficiency of ASase, precursor incorporation studies were performed in intact fibroblasts. In cells from controls and from type I patients, incorporation of 0.2 mmol/L [14C]formate into adenine and guanine nucleotides was not accompanied by accumulation of either [14C]succinyl-AICAR or [14C]adenylosuccinate. Similarly, incorporation of 20 µmol/L [14C]hypoxanthine was not accompanied by accumulation of [14C]adenylosuccinate. In contrast, in fibroblasts of the type II patient, in accordance with the profound deficiency of ASase with adenylosuccinate, and with the inhibitory effect of Cl− and nucleotides on the activity with succinyl-AICAR, incorporation of [14C]formate resulted in accumulation of [14C]succinyl-AICAR and [14C]adenylosuccinate, and incorporation of [14C]hypoxanthine in a marked build-up of [14C]adenylosuccinate. That both precursors were still incorporated into the adenine nucleotides of the fibroblasts of the type II patient indicates that adenylate synthesis remains possible even with 3% residual ASase activity, as also shown by their grossly normal ATP concentrations. The results suggest that the pathophysiology of ASase deficiency may be mediated at least in part by accumulation of succinyladenosine and succinyl-AICAriboside.
    Type of Medium: Electronic Resource
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  • 6
    Electronic Resource
    Electronic Resource
    Springer
    Journal of inherited metabolic disease 15 (1992), S. 416-418 
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    Springer
    Journal of inherited metabolic disease 15 (1992), S. 897-898 
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 8
    ISSN: 1433-0407
    Keywords: Schlüsselwörter Legionellainfektion ; Legionellose ; Neurologische und psychiatrische Symptomatik ; Key words Legionella infection ; Legionellosis ; Legionnaires’ disease ; Neurologic and psychiatric manifestations
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Legionella is a frequent etiologic agent in the development of both nosocomial and community acquired pneumonias. Involvement of the nervous system is common in Legionella infections. We present a case of Legionnaires’ disease which illustrates distinctive neurologic findings including delirium and cerebellar dysfunction. Furthermore, this paper reviews the neurological and psychiatric features of 609 Legionella infected patients with involvement of the nervous system. The most common signs were disorientation (58%), headache (52.4%), and somnolence (39.7%). Less frequent or rare were: cerebellar dysfunction (11.2%), hallucinations (8.4%), agitation or stupor (4.1%), affective disorders (3.1%), peripheral neuropathy (2.8%), pyramidal disturbances (2.1%), memory loss (1.6%), seizures (1.5%), cranial nerve palsies (1.5%), incontinence (0.7%), and extrapyramidal disturbances (0.3%). Cranial CT scans, cerebrospinal fluid findings, and nerve and muscle biopsies were usually unremarkable. Neuropathologic examinations failed to demonstrate specific characteristics. Hyponatremia and serum CPK level elevation were present in up to 89% and 50% of patients, respectively. Prognosis of disturbances of the nervous system was mainly good. We conclude that in the presence of definite neurological findings, pulmonary infection, hyponatremia, and CPK elevation Legionella infection should be considered.
    Notes: Zusammenfassung Legionellen haben ätiologisch einen hohen Anteil bei nosokomial und ambulant erworbenen Pneumonien. Das Nervensystem ist dabei häufig mitbetroffen. Wir berichten über eine Patientin, bei der im Rahmen einer Legionellapneumonie eine typische neurologisch-psychiatrische Symptomatik auftrat. Die Auswertung von Übersichtsarbeiten und Einzelberichten, die 609 Patienten mit einer Legionellainfektion und Beteiligung des Nervensystems einschloß, ergab, daß am häufigsten Orientierungsstörungen (58%), Kopfschmerzen (52,4%) und Vigilanzminderungen (39,7%) auftraten. Weniger häufig oder selten waren: zerebelläre Syndrome (11,2%), Halluzinationen (8,4%), Störungen des Antriebs (4,1%) oder der Affektivität (3,1%), Neuropathien (2,8%), pyramidal-motorische Störungen (2,1%), Gedächtnisstörungen (1,6%), epileptische Anfälle (1,5%), Hirnnervenlähmungen (1,5%), Harninkontinenz (0,7%), extrapyramidal-motorische Störungen (0,3%). Spezifische Veränderungen im kraniellen Computertomogramm, im Liquor, in Nerven- und Muskelbiopsien oder neuropathologische Charakteristika wurden nicht gefunden. Hyponatriämien und CK-Erhöhungen traten mit bis zu 89% bzw. 50% auf. Der Verlauf hinsichtlich Störungen des Nervensystems war überwiegend günstig. Trotz des weiten klinischen Spektrums sollten das Auftreten bestimmter neurologischer und/oder psychiatrischer Störungen bei bestehender oder sich entwickelnder Pneumonie an eine Legionellainfektion denken lassen, v.a. bei Vorliegen einer Hyponatriämie oder CK-Erhöhung.
    Type of Medium: Electronic Resource
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