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  • 1
    ISSN: 1432-1076
    Keywords: Lyme borreliosis ; Facial palsy ; Borrelia burgdorferi ; Polymerase chain reaction
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Neuroborreliosis occasionally represents a diagnostic problem, especially in the early stage of the infection. The polymerase chain reaction (PCR) offers an attractive alternative to antibody testing. The aim of our study was to investigate the diagnostic potential of PCR in comparison to antibody tests in CSF of children with facial palsy. In contrast to other manifestations of neuroborreliosis, facial palsy is a welldefined clinical entity in which CSF findings allow an early distinction according to aetiology. The study included 17 children with neuroborreliosis, defined by the detection of specific IgM antibodies in CSF, and 20 children with facial palsy of unknown cause. Primers used for the nested PCR were generated from conserved sequences of the OspA-gene. Most of the cases in both subgroups have been examined within a few days after the onset of the paresis. Only in 2 out of 17 cases with neuroborreliosis could specific DNA be amplified. The PCR gave negative results in all cases of the control group. Conclusion The IgM capture ELISA is superior to PCR to support the clinical diagnosis of neuroborreliosis.
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 156 (1997), S. 789-791 
    ISSN: 1432-1076
    Keywords: Key words Schimke immuno-osseous dysplasia ; Spondylo-epiphyseal dysplasia ; White-matter-lesions ; Cerebrovascular complications
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Schimke immuno-osseous dysplasia is a multisystem disorder consisting of spondylo-epiphysial dysplasia, progressive renal insufficiency due to focal segmental glomerulosclerosis, and immunodeficiency. Cerebrovascular complications have only been described in five patients. Here we report a patient with prominent neurological symptoms most likely caused by transient ischaemic attacks. Conclusion Neurological symptoms consisted of re-peated brief spells of hemiparaesthesia, motoric aphasia and diplopia. MRI studies of the CNS revealed progressive white matter lesions. Morphological changes as well as neurological deficits are compatible with cerebral ischaemia.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-1076
    Keywords: Key words Lyme borreliosis ; Facial palsy ; Borrelia burgdorferi ; Polymerase chain reaction
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Neuroborreliosis occasionally represents a diagnostic problem, especially in the early stage of the infection. The polymerase chain reaction (PCR) offers an attractive alternative to antibody testing. The aim of our study was to investigate the diagnostic potential of PCR in comparison to antibody tests in CSF of children with facial palsy. In contrast to other manifestations of neuroborreliosis, facial palsy is a well-defined clinical entity in which CSF findings allow an early distinction according to aetiology. The study included 17 children with neuroborreliosis, defined by the detection of specific IgM antibodies in CSF, and 20 children with facial palsy of unknown cause. Primers used for the nested PCR were generated from conserved sequences of the OspA-gene. Most of the cases in both subgroups have been examined within a few days after the onset of the paresis. Only in 2 out of 17 cases with neuroborreliosis could specific DNA be amplified. The PCR gave negative results in all cases of the control group. Conclusion The IgM capture ELISA is superior to PCR to support the clinical diagnosis of neuroborreliosis.
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 155 (1996), S. 833-833 
    ISSN: 1432-1076
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 155 (1996), S. 833-833 
    ISSN: 1432-1076
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 6
    ISSN: 1433-0474
    Keywords: Schlüsselwörter Kindesalter ; Radikulopathie ; Rückenschmerz ; Key words Back pain ; Childhood ; Radiculopathy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Aim of the study: Investigation of the different causes and the therapy of backache accompanied by radiculopathy in childhood. Methods: Retrospective analysis of clinical course, diagnostical tests and therapy in 25 children up to 16 years who were admitted because of backache accompanied by radiculopathy with no other specific symptoms. Results: 10 children suffered from inflammatory diseases, 9 tumors were found and in 6 children, there was a non-inflammatory, non-neoplastic, namely orthopedic cause of the complaints. If correct treatment was begun in time, the outcome for the children was good. Conclusions: The vertebral and radicular pain in childhood is a severe symptom. Posture disorders and hip stiffness have to be evaluated meticulously. (Plain x-rays, MRI, eventually CT and lumbar puncture).
    Notes: Zusammenfassung Fragestellung: Untersucht werden sollten die Differentialdiagnose und Therapie kindlicher Rückenschmerzen mit radikulären Symptomen oder Nervendehnungsschmerz. Methode: Retrospektive Analyse von klinischen Verläufen, Diagnostik und Therapie bei 25 unter 16 Jahre alten Patienten, die mit Rückenschmerzen mit radikulären Symptomen oder Nervendehnungsschmerz ohne weiterführende Symptomatik stationär aufgenommen wurden. Ergebnisse: 10 Kinder litten an entzündlichen Erkrankungen, bei 9 Patienten ließ sich ein Tumor nachweisen. Die restlichen 6 Jungen und Mädchen litten an anderen Erkrankungen insbesondere des neuro-orthopädischen Formenkreises. Bei früher Diagnosestellung und differenzierter Therapie war der Verlauf in allen Fällen günstig. Schlußfolgerungen: Das vertebrale und radikuläre Schmerzsyndrom im Kindesalter ist eine ernstzunehmende Erkrankung. Jede Wirbelsäulenfehlhaltung, jede Wirbelsäulenschonhaltung, jede Hüftlendenstrecksteife ist konsequent abzuklären (Röntgen, NMR, ggf. CT, LP).
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    Springer
    Child's nervous system 16 (2000), S. 228-234 
    ISSN: 1433-0350
    Keywords: Key words Brain tumor ; Rhabdoid tumor ; Chemotherapy ; Radiotherapy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract  Rhabdoid tumors of the central nervous system are rare malignancies with a still almost uniformly fatal outcome. There is still no proven curative therapy available. We report our experience with nine patients with central nervous system rhabdoid tumors. Gross complete surgical removal of the tumor was achieved in six patients. Seven patients received intensive chemotherapy. Four of these were treated in addition with both neuroaxis radiotherapy and a local boost directed to the tumor region, while two patients received local radiotherapy only. The therapy was reasonably well tolerated in most cases. Despite the aggressive therapy, eight of the nine patients died from progressive tumor disease, and one patient died from hemorrhagic brain stem lesions of unknown etiology. The mean survival time was 10 months after diagnosis. Conventional treatment, although aggressive, cannot change the fatal prognosis of central nervous system rhabdoid tumors. As these neoplasms are so rare, a coordinated register would probably be a good idea, offering a means of learning more about the tumor’s biology and possible strategies of treatment.
    Type of Medium: Electronic Resource
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  • 8
    ISSN: 1433-0350
    Keywords: Magnetic resonance imaging ; Magnetic resonance spectroscopy ; Children ; Brain tumor ; Astrocytoma
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Noninvasive localized proton magnetic resonance spectroscopy (MRS) was used for differential diagnosis of a focal brain lesion in a 2.5-year-old girl. The clinical signs were a mild head tilt and neck pain. Magnetic resonance imaging (MRI) revealed a lesion in the right hemisphere of the cerebellum, but its nature remained obscure. In this lesion quantitative determinations of cerebral metabolites by fully relaxed, short-echo-time proton MRS revealed markedly lowered N-acetylaspartate (NAA) and pronounced elevations of choline-containing compounds (Cho) and myo-inositol (Ins), whereas metabolite concentrations in cortical gray matter and white matter were within normal ranges. The metabolite pattern of the lesion indicated loss of vital neuroaxonal tissue (low NAA) and enhanced glial proliferation (high Cho and Ins), which, together with the MRI morphology, suggested a brain tumor. The diagnosis was established by neurosurgical exploration and total extirpation of the tumor. Histology confirmed an astrocytoma (WHO II). After 2 weeks' recovery the child was discharged with no neurological signs.
    Type of Medium: Electronic Resource
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  • 9
    ISSN: 1433-0474
    Keywords: Schlüsselwörter Mitochondriale Zytopathien ; Atmungskettendefekte ; Pyruvatdehydrogenasemangel ; Kofaktorsupplementation ; Therapie ; Key words Mitochondrial cytopathies ; Respiratory chain deficiency ; Pyruvate dehydrogenase deficiency ; Cofactor supplementation ; Therapy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Diagnostic tools for the studies of mitochondrial disorders of energy metabolism such as biochemical and molecular genetic techniques, have increased our knowledge on the clinical spectrum of mitochondrial cytopathies (MC) and have enabled new insights in the etiology and pathogenesis of these heterogeneous multisystem disorders. In contrast, the therapeutical influence on the usually progressive clinical courses are very limited. A causal therapy has to take into account that biochemical defects are heterogeneous (pyruvate dehydrogenase complex, pyruvate carboxylase, respiratory chain complexes), frequently show tissue-specific and/or time-depending expression and may occur in combination with each other. To this date the following therapeutical principals have been used: (1) decrease of the endogenic generation of toxic intermediates (by dietary measures); (2) increase of residual enzymatic activities (by enzyme cofactors or activators); (3) bridging the enzyme defects (by electron acceptors/donators); and (4) antioxidative and membrane-protective measures. This review presents the mechanisms of agents used so far, and discusses their therapeutical effectiveness according to the data from the literature and our experience with 26 patients suffering from different types of MC. It is shown that patients with pure myopathic manifestations of complex I deficiency as well as cardiomyopathy caused by carnitine depletion exhibit the greatest benefit from cofactor supplementation. The clinical course of patients with Kearns-Sayre syndrome may be influenced by various therapeutical procedures. In patients with diseases showing a predominantly encephalopathic presentation (like Leigh syndrome), disturbed lactate/pyruvate metabolism tends to normalise under treatment. The therapeutical influence on the clinical course however, is at best limited to temporary improvement or delaying progression. Nevertheless, effects of any particular therapy can not be predicted easily in any individual at any stage of the disease. Thus, therapeutical trials are justified because of the low rate of side effects. Gene therapeutical strategies hopefully will offer more effective treatments.
    Notes: Zusammenfassung Während enorme Fortschritte in der Aufklärung von Ätiologie und Pathogenese mitochondrialer Zytopathien (MC) erzielt wurden, sind die Möglichkeiten, die progredienten Multisystemerkrankungen therapeutisch zu beeinflussen, begrenzt. Eine kausalorientierte Therapie muß berücksichtigen, daß die biochemischen Defekte heterogen sind (Pyruvatdehydrogenase, Pyruvatarboxylase, Atmungskettenkomplexe), gewebespezifische und/oder zeitabhängige Expression zeigen und kombiniert auftreten können. Therapieprinzipien sind 1. Reduktion der endogenen Produktion von toxischen Metaboliten (durch diätetische Maßnahmen), 2. Erhöhung der enzymatischen Restaktivität (durch Kofaktoren bzw. Enzymaktivatoren), 3. Überbrückung von Enzymdefekten (durch Elektronenakzeptoren bzw. -donatoren) und 4. antioxidative und membranoprotektive Maßnahmen. Diese Übersicht stellt die Wirkmechanismen verschiedener Substanzen vor und diskutiert ihre therapeutischen Wirksamkeiten anhand von Literaturdaten und eigenen Erfahrungen bei 26 Patienten. Patienten mit myopathischen Verlaufsformen von Komplex I-Defekten, Kearns-Sayre- Syndrom und mit auf sekundärem Karnitinmangel beruhenden Kardiomyopathien profitieren am stärksten von Supplementationsmaßnahmen. Bei Patienten mit enzephalopathischen Manifestationsformen (z. B. Leigh-Syndrom) werden zwar häufig Normalisierungstendenzen des gestörten Laktat-Pyruvat-Stoffwechsels beobachtet, doch wird die klinische Symptomatik allenfalls vorübergehend gebessert oder die Progredienz gemildert. Im Einzelfall sind die therapeutischen Effekte nicht vorhersagbar, sodaß angesichts der geringen Nebenwirkungsraten Therapieversuche gerechtfertigt sind. Gentherapeutische Strategien lassen effektivere Behandlungsmaßnahmen erwarten.
    Type of Medium: Electronic Resource
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  • 10
    ISSN: 1433-0474
    Keywords: Schlüsselwörter Lyme Borreliose ; Verschiedene Formen ; Kindesalter ; Diagnostik ; Therapie ; Key words Lyme disease ; Different forms ; Childhood ; Diagnosis ; Therapy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Abstract Lyme borreliosis is the most frequent tick-borne disease of man in the Northern Hemisphere. A variety of systems may be involved. The most frequent manifestations in childhood include erythema migrans, meningitis, cranial nerve palsy and arthritis. Erythema migrans is usually easily recognized and determination of antibodies to Borrelia burgdorferi should not be performed. Childhood neuroborreliosis is characterized mostly by aseptic meningitis with or without cranial nerve palsy, in most cases facial palsy. Basic CSF findings often show combined evidence of lymphocytic pleocytosis, IgM-class dominance in intrathecal humoral immune response, and blood-CSF barrier dysfunction. Calculation of the B. burgdorferi-specific antibody index (according to Reiber) has proved to be the most sensitive method for detecting intrathecal synthesis of specific antibodies. Lyme arthritis presents initially as episodic oligoarthritis, mostly involving the knee joint, and may turn into chronic monoarthritis of the knee; usually high titers of IgG antibodies to B. burgdorferi are found. Rarer manifestations such as encephalomyelitis, chronic arthritis, carditis and inflammatory eye disease may be difficult to diagnose due to clinical ambiguity and problems in the interpretation of serological results. Antibodies to B. burgdorferi found by the sensitive Elisa test must always be confirmed by immunoblot analysis, but sometimes immunoblot analysis is more sensitive than the Elisa. Treatment is by antibiotics, amoxicillin for erythema migrans, and i. v. third-generation cephalosporins for all other manifestations. Discussion: Even after successful antibiotic therapy, antibodies may persist for months and years, and no further antibiotic treatment is necessary in the absence of attributable clinical manifestations. The differentiation between a persisting immune response and a persisting infection therefore has to be based upon the clinical symptoms, non-specific laboratory data and the development of antibody titers.
    Notes: Zusammenfassung Hintergrund: Die Lyme-Borreliose ist die häufigste durch infizierte Zecken übertragene Infektionskrankheit des Menschen in Europa. Erscheinungsformen: Verschiedene klinische Erscheinungsformen können auftreten. Die Krankheitsbilder Erythema migrans, Meningitis, Hirnnervenlähmung und Arthritis dominieren im Kindesalter. Das Erythema migrans ist gewöhnlich leicht diagnostizierbar und eine Antikörperbestimmung ist nicht indiziert. Die Neuroborreliose manifestiert sich meist als eine seröse Meningitis mit oder ohne Hirnnervenparese, hauptsächlich periphere Fazialisparese. Der Liquorbefund bietet häufig das gleichzeitige Vorliegen von lymphozytärer Pleozytose, IgM-Dominanz in der intrathekalen Immunantwort und eine Schrankenstörung. Serodiagnostisch ist die Bestimmung des spezifischen Antikörperindex nach Reiber der beste Parameter zum Nachweis einer intrathekalen, erregerspezifischen Antikörperbildung. Die Lyme-Arthritis imponiert anfangs als episodische Oligoarthritis, meist unter Einschluß des Kniegelenks, und kann in eine chronische Monarthritis des Knies übergehen. Fast immer werden hohe IgG-Antikörper-Titer gefunden. Die seltenen Manifestationen Enzephalomyelitis, chronische Arthritis, Karditis und entzündliche Augenerkrankungen sind klinisch vieldeutig, bieten selten eindeutige Befunde und sind in der Interpretation der serologischen Ergebnisse problematisch. Die Spezifität der durch ELISA oder IFT ermittelten Antikörper muß im Immunoblot bewiesen werden. Diskussion: Therapeutisch sind Amoxicillin oder Doxicyclin beim Erythma migrans und Zephalosporine der 3. Generation parenteral bei den übrigen Manifestationen als Mittel der Wahl anzusehen. Trotz klinisch erfolgreicher antibiotischer Therapie können sowohl die IgM- als auch die IgG-Antikörpertiter über Monate und Jahre persistieren, ohne daß sich daraus eine neue Behandlungsindikation ergibt, wenn nicht gleichzeitig noch eine weitere klinische Symptomatik besteht. Die Unterscheidung zwischen einer persistierenden Infektion und einer Seronarbe kann nur unter Berücksichtigung der klinischen Symptomatik, unspezifischen Laborparametern und Antikörpertitern im Verlauf getroffen werden.
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