Global ETD Search

31	14-3-3-Isoformen im Liquor cerebrospinalis bei Patienten mit verschiedenen molekularen Subtypen der sporadischen Creutzfeldt-Jakob-Krankheit / 14-3-3 isoforms in cerebrospinal fluid of patients with different molecular subtypes of sporadic Creutzfeldt-Jakob disease Jategaonkar, Swati Ravindra 09 May 2012 (has links) No description available. 610 Medizin, Gesundheit MED 532 Neurologische Diagnostik Neuroradiologie Medicine sporadische Creutzfeldt-Jakob-Krankheit 14-3-3- Isoformen Liquor cerebrospinalis Diagnose spradic Creutzfeldt-Jakob disease 14-3-3 isoforms diagnosis cerebrospinal fluid 44.90 Neurologie
32	Low mood, visual hallucinations, and falls – heralding the onset of rapidly progressive probable sporadic Creutzfeldt–Jakob disease in a 73-year old: a case report Klotz, Daniel Martin, Penfold, Rose Sarah 12 June 2018 (has links) Background Creutzfeldt–Jakob disease is a rare and rapidly fatal neurodegenerative disease. Since clinicians may see only very few cases during their professional career, it is important to be familiar with the clinical presentation and progression, to perform appropriate investigations, and allow for quick diagnosis. Case presentation A 73-year-old British Caucasian woman presented with acute confusion of 2 weeks’ duration on a background of low mood following a recent bereavement. Her symptoms included behavioral change, visual hallucinations, vertigo, and recent falls. She was mildly confused, with left-sided hyperreflexia, a wide-based gait, and intention tremor in her left upper limb. Initial blood tests, computed tomography, and magnetic resonance imaging of her brain showed no significant abnormality. Following admission, she had rapid cognitive decline and developed florid and progressive neurological signs; a diagnosis of prion disease was suspected. A lumbar puncture was performed; cerebrospinal fluid was positive for 14–3-3 protein, real-time quaking-induced conversion, and raised levels of s-100b proteins were detected. An electroencephalogram showed bilateral periodic triphasic waves on a slow background. The diagnosis of probable Creutzfeldt–Jakob disease was made. Conclusions This case report highlights key features in the initial presentation and clinical development of a rare but invariably rapidly progressive and fatal disease. It emphasizes the importance of considering a unifying diagnosis for multifaceted clinical presentations. Although it is very rare, Creutzfeldt–Jakob disease should be considered a diagnosis for a mixed neuropsychiatric presentation, particularly with rapid progressive cognitive decline and development of neurological signs. However, to avoid overlooking early signal change on magnetic resonance imaging, it is important to take diffusion-weighted magnetic resonance imaging for all patients with neuropsychological symptoms. Importantly, early diagnosis also ensures the arrangement of suitable contamination control measures to minimize the risk of infection to health care professionals and other patients. info:eu-repo/classification/ddc/610 ddc:610
33	Role of PRNP codon 129 genotype in defining strain transmission properties of human transmissible spongiform encephalopathy Bishop, Matthew T. January 2009 (has links) The human prion protein (PrP) gene (PRNP) codon 129 (M/V) polymorphism is a susceptibility factor for variant Creutzfeldt-Jakob Disease (vCJD) and a major determinant of clinico-pathological phenotype in sporadic CJD. The role of codon 129 in defining susceptibility and strain transmission properties has been investigated in three lines of transgenic mice that express human PrP. The human PRNP gene has directly replaced the murine version, by gene targeting, and variation at codon 129 has given the three genotype lines (HuMM, HuMV, and HuVV). The genetics of these three mouse lines are otherwise identical, and therefore differences in transmission properties can be directly attributable to the codon 129 genotype. vCJD inoculation has shown that all three codon 129 genotype mice are susceptible with a ranking of transmission efficiency of HuMM>HuMV>HuVV. HuMM mice develop the most widespread neuropathology with features similar to human vCJD. Subclinical infection was noted in each mouse line. These data suggest that the vCJD strain is transmissible to humans of each of the three codon 129 genotypes, implying that non-MM cases of human infection with bovine spongiform encephalopathy (BSE) may exist but with long subclinical incubation periods. Inoculation of material from blood transfusion associated vCJD showed no change in transmission properties suggesting that the threat of a future epidemic of human-to-human vCJD infection has not been increased by adaptation of the vCJD strain. However the route of infection, for example via blood transfusion or surgery, may be more efficient that the original oral route of BSE infection. sCJD is classified into six subgroups according to clinico-pathological features, and defined by codon 129 genotype and electrophoretic mobility type (1 or 2) of disease associated PrPSc (MM1, MM2, MV1, MV2, VV1, VV2). Typical cases from each subgroup have shown specific transmission properties suggesting that the subgrouping is defining separate disease strains. The commonest subgroup (MM1) was the most transmissible and the HuVV mouse line the most susceptible host. These data outline the transmission risk from all sCJD types to recipients of each codon 129 genotype should an infection event occur, and show the significant role of recipient codon 129 genotype in defining the clinical or subclinical state and the success or failure of transmission. This is important for determining individual risk following known exposure, and for modelling the potential of iatrogenic infection from sCJD patients. 616.8
34	Genetische Creutzfeldt-Jakob-Krankheit in Deutschland (1993-2010) - Charakterisierung dreier häufiger Mutationen in Abgrenzung zur sporadischen Creutzfeldt-Jakob-Krankheit und eine klinische Darstellung von seltenen Mutationen / Genetic Creutzfeldt-Jakob disease in Germany (1993-2010) - Characterization of three common mutations in contrast to sporadic Creutzfeldt-Jakob disease and a clinical presentation of rare mutations Bosold, Gabi 29 April 2014 (has links) No description available. 610 Prionerkrankung genetische Creutzfeldt-Jakob-Krankheit Prion gCJD Medizin (PPN619874732)
35	Erstsymptom, Erstdiagnose und ärztlicher Erstkontakt bei Patienten mit sporadischer Creutzfeldt-Jakob-Krankheit in Deutschland / First symptom, initial diagnosis and first physician contact in patients with sporadic Creutzfeldt-Jakob disease in Germany Kaune, Judith (Jansen) 13 February 2014 (has links) Hintergrund: Die sporadische Creutzfeldt-Jakob-Krankheit (sCJK) ist eine seltene neurodegenerative Erkrankung. Bisher existieren nur wenige Studien im Hinblick auf das Initialstadium der Erkrankung. Ziel dieser Studie war es unter Berücksichtigung des M129V-Genotyps und des Prionproteintyps maximal zwei Erstsymptome begrenzt auf einen Zeitraum von 2 Wochen, den ärztlichen Erstkontakt und die erste fachärztliche Diagnose zu erfassen. Material und Methoden: In der vorliegenden Dissertation wurden retrospektiv Akten von 492 Patienten mit einer neuropathologisch gesicherten oder klinisch wahrscheinlichen sCJK ausgewertet, die im Zeitraum von 1993 bis 2003 an das Göttinger Surveillance-Zentrum für CJK gemeldet worden waren. Bei 204 Patienten des Gesamtkollektivs war zusätzlich der Prionproteintyp bekannt. Mithilfe eines Dokumentationsbogens wurden die relevanten Parameter erfasst und statistisch ausgewertet. Ergebnisse: Zehn Prozent aller Patienten klagten über Prodromalsymptome wie Kopfschmerz, Müdigkeit, gestörte Schlaf-Wach-Rhythmik, Summen bzw. "komisches Gefühl im Kopf", Hörstörungen, Gewichtsverlust oder Photophobie. Patienten mit dem Subtyp MV-2 oder VV-1 gaben keine Prodromalsymptome an. Das häufigste Erstsymptom stellte die Demenz (37%) dar, gefolgt von zerebellären (34%), visuellen (15%) oder psychiatrischen (14%) Symptomen. Fünfzehn Prozent berichteten innerhalb von 2 Wochen bereits über 2 Erstsymptome. Als erster ärztlicher Kontakt wurde der Hausarzt (41%) aufgesucht, gefolgt vom niedergelassenen Neurologen (17%) oder einem Krankenhaus (13%), unabhängig von der Spezialisierung der Abteilung. Die fachärztliche Erstdiagnose lautete nur in 35% der Fälle CJK (in 42% bei MM-Patienten, 28% bei MV-Patienten, 25% bei VV-Patienten). Die Meldung eines CJK-Verdachtsfalles an das Göttinger CJK-Surveillance-Zentrum erfolgte überwiegend durch Neurologen, gefolgt von Psychiatern oder von anderen Berufsgruppen. Diskussion: Diese erste detaillierte Analyse von Erstsymptomen und ärztlichen Erstkontakten unterstreicht, wie relevant das Wissen von CJK und den atypischen CJK-Subtypen für Ärzte verschiedener Fachrichtungen ist. Hieraus entsteht die Hoffnung, dass in Zukunft insbesondere auch atypische CJK-Formen frühzeitig erkannt werden können. 610 Erstsymptom Erstdiagnose sporadische Creutzfeldt-Jakob-Krankheit Prionerkrankung M129V Polymorphismus first symptom initial diagnosis sporadic CJD prion disease M129V polymorphism GOK-MEDIZIN
36	Genetic variation in humans and chimpanzees in the prion protein gene Soldevila Trepat, Marta 20 June 2005 (has links) En el gen de la proteïna priònica, o PRNP, hem observat que el particular patró de variació que hem trobat basant-nos en dades de seqüenciació en humans es deu a selecció positiva, i que el mètode utilitzat per detectar selecció és crític. Utilitzant dades basades en SNPs es pot introduir un biaix al aplicar tests de neutralitat basats en diversitat de seqüències, i això pot portar a conclusions errònies. A més, hem vist que els polimorfismes en els codons 129 i 219 presenten gran diferències de freqüència en diferents poblacions humanes i també hem vist que aquestes posicions estan fixades en ximpanzés. La variació trobada en controls ha estat comparada amb el patró de variació existent en pacients per la mateixa regió. La reseqüenciació del gen PRNP en un gran nombre de mostres humanes i de ximpanzés ens ha permès obtenir un gran nombre d´informació d´aquest gen. / In the prion gene or PRNP, we have observed that the particular pattern of variation that we have found in this gene based on sequencing data in humans is due to positive selection, and that the method and the approach used to detect this selection critical. Ascertainment bias can be introduced by using SNP data and applying neutrality tests based on sequence diversity, therefore leading to anomalous conclusions being drawn. Moreover, we have seen that polymorphisms in codon 129 and 219 have big differences in frequency in different human populations and we have also seen that these positions are fixed in chimpanzees. The normal variation that we found in controls have been then compared with patients for the same region. The resequencing of PRNP in a very large sample of humans and chimpanzees has provided a great deal of information on this gene. primats ximpanzé Creutzfeldt-Jakob Insomni Fatal familiar BSE malalties priòniques selecció balancejadora selecció positiva selecció seqüència haplotip canibalisme CJD 129 prió PRNP primates chimpanzee Fatal familial insomnia Creutzfeldt-Jakob prion diseases BSE balancing selection positive selection selection sequence haplotypes cannibalism CJD 129 PRNP prion 57 575
37	Transthyretin-, Aß 1-40- und Aß 1-42- und Tau-Protein-Konzentrationen im Liquor cerebrospinalis bei demenziellen Erkrankungen / Levels of Transthyretin, beta amyloid peptide 1-40/1-42 and tau protein in liquor cerebrospinalis in different kinds of dementia Gloeckner, Sara Friederike 10 November 2010 (has links) No description available. 610 Medizin, Gesundheit Medicine Transthyretin tau-Protein beta-Amyloid-Peptid Liquor Demenz Alzheimer-Demenz Creutzfeldt-Jakob-Krankheit Transthyretin total tau beta amyloid peptid cerebrospinal fluid dementia Creutzfeldt-Jakob disease Alzheimer disease 44.46 44.97
38	Steroid-responsive Enzephalopathie bei Autoimmunthyreoiditis als Differentialdiagnose der Creutzfeldt-Jakob-Krankheit / Steroid-responsive encephalopathy in autoimmune thyroiditis as a differential diagnosis of Creutzfeldt-Jakob disease Osmanlioglu, Seyma 23 March 2016 (has links) No description available. 610 hashimoto encephalopathy (HE) autoantibodies autoimmune diseases encephalitis thyroid microsomal antibodies diagnostic criteria 14-3-3 protein
39	Das zelluläre Prionprotein im Liquor cerebrospinalis von Patienten mit verschiedenen neurologischen Erkrankungen / The cellular prion protein in the cerebrospinal fluid of patients with various neurological disorders Meyne, Felix 05 October 2010 (has links) No description available. 610 Medizin, Gesundheit Medicine PrPc Liquor cerebrospinalis neurodegenerative Erkrankungen Alzheimer Demenz Creutzfeldt-Jakob-Krankheit Demenz mit Lewykörperchen Normaldruckhydrozephalus Tau Aβ1-42 PrPc cerebrospinal fluid neurodegenerative disorders AD CJD DLB NPH tau Aβ1-42 44.90
40	Vlastnosti specifických protilátek prionových chorob a možnosti jejich využití / Specific prion protein antibodies characterisation and use in diagnostic Šafaříková, Eva January 2015 (has links) Transmissive spongiform encephalopathies (TSEs) are neurodegenerative diseases characterized by depositions of abnormally folded prion protein (PrPTSE ) in brain. PrPTSE is at present the only specific biochemical marker of human and animal TSEs. Diagnostic tests are based on the detection of PrPres after proteinase K digestion of brain homogenate using Western blot or on the immunohistochemistry of fixed brain tissue, which are both difficult and time consuming. In this work we focused on development of a new type of tests based on PrP detection without need of proteinase K digestion. As deposits of PrPTSE remain in the body for a long time, there is a substantial chance of them being nonenzymatically modified by glycation. The detection of glycated PrPTSE may have a potential to serve as a diagnostic marker. We prepared monoclonal antibodies specific for carboxymethyl lysine/arginine modified prion protein. Bacterially expressed and purified recombinant human prion protein (rhPrP) was modified by glyoxylic acid that introduces carboxymethyl groups on lysine and arginine residues present within the molecule of the protein. Modified rhPrP (rhPrP-CML) was used for immunization of laboratory mice and hybridoma cells were prepared. Screening of cell supernatants resulted in the selection of 4...

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