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  • 1
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract. Human prion diseases may be acquired as infectious diseases, they may be inherited in an autosomal dominant fashion or occur sporadically. Mutations and polymorphisms in the sequence of the coding region of the prion protein gene (PRNP) have been established as an important factor in all of these three types of prion diseases. Therefore, a total of 578 patients with suspect prion diseases referred to the German Creutzfeldt-Jakob disease (CJD) surveillance unit over a period of 4.5 years have been examined for mutations and polymorphisms in the coding region of PRNP. We found 40 cases with a missense mutation previously reported as pathogenic. Amongst these, the aspartate to asparagine change at codon 178 (D178N) was the most common mutation. All of these cases carried the D178N mutation in coupling with methionine at codon 129, resulting in the typical fatal familial insomnia (FFI) genotype. Most cases with pathogenic mutations were not found in the group of clinically "probable" cases according to established clinical criteria, supporting the notion that inherited prion diseases often exhibit atypical features. Two novel missense mutations (T188R and P238S) and several silent polymorphisms were found, demonstrating the quality of our screening procedure based on a modified version of the single-stranded conformational polymorphism technique. In "definite" CJD cases with no pathogenic mutation, the patients clinically classified as "probable" were mostly homozygous for methionine at the common polymorphism at codon 129, whereas there was a marked over-representation of patients homozygous for valine amongst those clinically classified as "possible". This large study on suspect cases of human prion diseases in Germany clearly shows that PRNP genetics is essential for a comprehensive analysis of prion diseases.
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  • 2
    ISSN: 1433-0407
    Keywords: Schlüsselwörter Creutzfeldt-Jakob Krankheit (CJD) ; Spongiforme Enzephalopathie ; Prion ; Diagnose ; Key words Creutzfeldt-Jakob disease (CJD) ; Spongiform encephalopathy ; Prion ; Diagnosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Since its first description by H.G. Creutzfeldt and A. Jakob, six forms of human spongiform encephalopathies have been described. Besides Creutzfeldt-Jakob disease (CJD), a new variant CJD (nvCJD), Gerstmann-Sträussler-Scheinker syndrome (GSS), fatal familial insomnia (FFI) and potentially familial progressive subcortical gliosis have been reported. The most likely causative agent of these and at least six animal-transmissible spongiform encephalopathies (TSE) is a structurally altered form of a regular cellular protein, designated prion. The best known animal forms are bovine spongiform encephalopathy (BSE) and scrapie. The clinical spectrum of human spongiform encephalopathies has been expanded in recent years by the discovery of new, partially genetically determined forms. The currently available clinical, neurophysiological, neuroradiological, biochemical and molecular-biological methods permit only a probable diagnosis of CJD. A definite diagnosis can only be achieved by the neuropathological demonstration of the pathological prion protein (PrPSc). The transmission of BSE to humans has neither been shown nor definitely excluded.
    Notes: Zusammenfassung Seit der Erstbeschreibung durch Creutzfeldt und Jakob sind bisher 6 humane spongiforme Enzephalopathien, die Creutzfeldt-Jakob-Krankheit (CJD), eine new variant CJD (nvCJD), das Gerstmann-Sträussler-Scheinker-Syndrom (GSS), die fatale familiäre Insomnie (FFI) und möglicherweise die familiäre progressive subkortikale Gliose beschrieben worden. Als wahrscheinlichster Auslöser dieser und von im Tierreich vorkommenden transmissiblen spongiformen Enzephalopathien (TSE), wie der bovinen spongiformen Enzephalopathie (BSE) und von Scrapie, gilt heute ein körpereigenes, im Krankheitsfall in seiner Struktur verändertes Eiweiß, das das Akronym Prion trägt. Das klinische Spektrum menschlicher spongiformer Enzephalopathien hat durch die Beschreibung neuer, teilweise genetisch bedingter Varianten in den letzten Jahren eine deutliche Ausweitung erfahren. Mit den bisher zur Verfügung stehenden klinischen, neurophysiologischen, neuroradiologischen, biochemischen und molekularbiologischen Verfahren läßt sich intra vitam lediglich eine wahrscheinliche Diagnose einer CJD stellen. Eine sichere Diagnose einer humanen spongiformen Enzephalopathie ist nur durch den neuropathologischen Nachweis des pathologischen Prionproteins (PrPSc) möglich. Eine Übertragung der BSE auf den Menschen ist bisher nicht bewiesen, läßt sich gegenwärtig aber auch nicht mit Sicherheit ausschließen.
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  • 3
    ISSN: 1433-0407
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
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  • 4
    ISSN: 1520-5835
    Source: ACS Legacy Archives
    Topics: Chemistry and Pharmacology , Physics
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  • 5
    ISSN: 0887-624X
    Keywords: LC side-group block copolymer ; morphology ; phase separation ; LC behavior ; Chemistry ; Polymer and Materials Science
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Chemistry and Pharmacology
    Notes: Liquid crystalline triblock copolymers with LC inner block and amorphous outer blocks have been synthesized by “living” anionic polymerization and investigated using DSC, TEM, and small-angle x-ray diffraction. All samples of poly[styrene-block-2-(3-cholesteryloxycarbonyloxy) ethyl methacrylate-block-styrene] (PS-b-PChEMA-b-PS) show liquid crystalline behavior and phase separation between the blocks. Compared to triblock copolymers with PS inner block (PChEMA-b-PS-b-PChEMA) and diblock copolymers (PS-b-PChEMA) the LC block copolymers with PS outer blocks have the same properties. The LC behavior and the morphology do not depend on the block arrangement; they are only influenced by the volume fractions of the blocks. Those samples in which the liquid crystalline subphase is not continuous (spheres) only a nematic phase was found, whereas in all samples with a continuous liquid crystalline subphase, the smectic A phase of the homopolymer was observed. © 1996 John Wiley & Sons, Inc.
    Additional Material: 9 Ill.
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  • 6
    ISSN: 1573-7284
    Keywords: Case–control study ; Creutzfeldt–Jakob disease ; Neuroepidemiology ; Stress
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The association between Creutzfeldt–Jakob disease (CJD) and stressful life events was examined in a pilot case–control study in Germany. The study sample consisted of 37 CJD cases and 37 controls, both groups were frequency-matched for age and sex. In standardised interviews of close relatives of the cases and the controls, all stressful life events were assessed and subsequently grouped into one of the following three subgroups: psychosocial stress events, medical operations with hospitalisation, and other serious medical examinations. A significantly higher proportion of CJD cases experienced stressful life events during the last six months before disease onset than controls (65% vs. 32%, p = 0.01), yielding an odds ratio (OR) of 3.85 (95% confidence interval (CI): 1.33–11.30). We found the clearest distinction between cases and controls for the subgroup of medical operations where an OR of 6.97 (95% CI: 0.76–329.20) was observed. Further data indicated that stressful events seem to influence not only the onset of CJD but also the progression of the disease. Although based on a rather small study sample, this pilot case–control investigation suggests evidence that stressful life events in the last six months before disease onset may influence CJD occurrence and may modify the course of disease. This ‘stress hypothesis’, which is in line with findings from other epidemiological and experimental studies in CJD, is thus a promising direction for future CJD research as it could enlighten the pathophysiological mechanisms and point towards strategies for the prevention and therapy of CJD.
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  • 7
    ISSN: 1520-5835
    Source: ACS Legacy Archives
    Topics: Chemistry and Pharmacology , Physics
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  • 8
    ISSN: 1471-4159
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Abstract : Two-dimensional polyacrylamide gel electrophoresis of CSF has been used in the diagnosis of Creutzfeldt-Jakob disease (CJD). One of the two diagnostic protein spots was identified as isoform(s) of the 14-3-3 family of abundant brain proteins. This has led to the development of one-dimensional 14-3-3 sodium dodecyl sulfate polyacrylamide gel electrophoresis immunoblot, which is currently used to support the diagnosis of CJD. In the present study employing western blot analysis, we have identified the panel of 14-3-3 isoforms that appear in the CSF of 10 patients with CJD compared with 10 patients with other dementias. The results clearly show that the 14-3-3 isoforms β, γ, ε, and η are present in the CSF of patients with CJD and can be used to differentiate other dementias. 14-3-3η also gave a baseline signal in all patients with other dementias, including six patients with Alzheimer's disease. The presence of 14-3-3η in the CSF of a patient with herpes simplex encephalitis was particularly noteworthy. This study has determined that isoform-specific 14-3-3 antibodies against β, γ, and ε should be considered for the neurochemical differentiation of CJD from other neurodegenerative diseases.
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  • 9
    ISSN: 1432-1459
    Keywords: Electronic data processing ; Multiple sclerosis ; Optical mark reader documentation ; Multicenter study
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Im Rahmen eines MS-Schwerpunktprogramms der Deutschen Forschungsgemeinschaft (Dr. Fischer-Bosch-Stiftung), an welchem bisher 14 Kliniken und mehrere Forschunggruppen beteiligt sind, wurde ein zentraler Dokumentationspool für klinische Daten geschaffen. Für die Verarbeitung der anfallenden Daten dieser multizentrischen Studie wurde das optische Markierungsbelegverfahren gewählt, das sich schon auf verschiedenen Gebieten der Medizin bewährt hat. Die Entwicklung der Dokumentationsbelege und die methodische Anwendung des erarbeiteten Systems werden geschildert.
    Notes: Summary 14 hospital departments and several research groups participating in the multiple sclerosis research program of the Deutsche Forschungsgemeinschaft (Dr. Fischer-Bosch-Stiftung) have organized a central documentation pool for clinical data on MS patients. An optical mark reader form documentation system was selected for data processing. The system has three major advantages for the processing of large amounts of data: No code or handwriting involved, registration of a fairly detailed clinical status without omissions, results directly readable by machine; the results may also be read visually, however, making the inclusion of copies in conventional case records useful. On the basis of experience gained in the processing of several hundred cases, it was possible to improve on the first version of the documentation sheet by a revision of details. Initial difficulties are quickly eliminated by a brief training period, errors during the recording of data are identified by a computer plausibility program with printouts of the corrections required. An example for the utilization of the system is given to indicate its value for multicenter studies.
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  • 10
    ISSN: 1432-1459
    Keywords: Multiple sclerosis ; Complement dependent cytotoxic antibodies ; Measles virus
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Die zytotoxischen (CT) und Haemagglutinations-hemmenden (HI) Antikörper gegen Masernvirus wurden bei 195 Multiple-Sklerose (MS)-Patienten und 251 Kontrollpersonen getestet. Im Testsystem wurden die CT-Antikörper im Serum mit zugesetztem Komplement, bei Messung des freigesetzten 51Cr aus mit Masernviren infizierten Lu-Zellen, nachgewiesen. Die Analyse der Komplement-abhängigen CT-Antikörper gegen Masernvirus zeigte bei MS-Patienten im Vergleich zu Kontrollen eine signifikante (P〈0.01) Erhöhung der Titerwerte. Dieser Unterschied war nicht im HI-Test nachzuweisen. Die Häufigkeit von CT-Titerwerten ≥1:32 betrug 54.9% bei MS-Fällen und 35.5% bei Kontrollen. Gleichlautend fanden sich HI-Titerwerte ≥1:128 nur bei 17.9% der MS-Patienten und 27.9% bei Kontrollen. Der Nachweis von CT-Antikörper unter MS-Patienten ist ein Beweis dafür, daß sie eine funktionsfähige Abwehr gegen virusinfizierte Zellen besitzen. Die erhöhten Titer gegen Masernvirus können auf eine anhaltende Antigen-Stimulation bei MS-Patienten hinweisen. Die Befunde beweisen jedoch nicht, daß für die Entstehung einer Multiplen Sklerose das Masernvirus verantwortlich ist.
    Notes: Summary The presence of measles cytotoxic (CT) and hemagglutination inhibiton (HI) antibodies in 195 multiple sclerosis (MS) patients and 251 controls was tested. The measles virus Lu carrier cells labeled with 51Cr were exposed to serum specimens in the presence of complement in order to test the presence of CT antibody. The analysis of complement dependent CT antibodies against measles virus revealed significantly (P〈0.01) higher titers in MS patients than in the control group. However, the measles HI test failed to show this difference. Measles CT titers ≥1:32 among MS patients occured in 54.9% and in 35.5% among the controls. In comparison with this the HI method revealed measles titers ≥1:128 more often in the control group than in MS cases (27.9 and 17.9%, respectively). The presence of CT antibodies against measles virus in MS proves that these patients have a functional defence mechanism to eliminate virus infected cells. The high measles antibody titer among MS patients could be due to recurrent antigenic stimulation caused by measles virus persistency. Whether this virus persistency plays a role in MS can not be decided on the available data.
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