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  • 1
    ISSN: 0888-7543
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 0165-1781
    Keywords: Manic depression ; amino acid substitution ; genetics
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1433-0407
    Keywords: Schlüsselwörter Prämorbides Funktionieren ; Schizophrenie ; Schizoaffektive Störung ; Prämorbide Anpassungsskala (PAS) ; Positiv- und Negativsyndromskala (PANSS) ; Key words Premorbid functioning ; Schizophrenia ; Schizoaffective disorder ; Premorbid Adjustment Scale (PAS) ; Positive and Negative Syndrome Scale (PANSS)
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary The Premorbid Adjustment Scale (PAS) was developed by Cannon-Spoor et al. 1982 for research use and has gained importance internationally. This scale is designed to measure the extent of attaining developmental goals premorbidly. The German version is presented here, with first data on the reliability and validity of the scale. In a sample of schizophrenic and schizoaffective patients (n=86) and healthy parents of the patients (n=38), DSM-IV diagnosis was made and PAS and Positive and Negative Syndrome Scale (PANSS) data were taken along with information on the course of the disorder. Using Cronbachs α, the estimated reliability for the scale and subscales lay between 0.809 and 0.931. High PAS scores, representing poor premorbid adjustment, correlated significantly with low age of onset, high PANSS scores, insidious onset, long hospitalisation, and serious course of the disorder. The threshold of PAS scores between healthy and sick probands was at 0.23. Patients with scores 〉 0.53 appeared to have an unfavourable course. With test results 〉 0.23, an odds ratio of 27.9 was ascertained (95% CI 9.39–M82.89). The findings presented correspond with those from previous reports in literature.
    Notes: Zusammenfassung Die von Cannon-Spoor et al. 1982 für Forschungszwecke entwickelte Prämorbide Anpassungsskala (PAS) hat international Bedeutung erlangt. Sie soll messen, bis zu welchem Grad soziale Entwicklungsziele prämorbide erreicht wurden. In dieser Arbeit wird mit ersten Daten zur Reliabilität und Validität die deutsche Version vorgelegt. Bei einer Stichprobe schizophrener und schizoaffektiver Patienten (n=86) und gesunden Eltern der Patienten (n=38) wurden neben der DSM-IV-Diagnose PAS- und PANSS-Daten sowie Angaben zum Krankheitsverlauf erhoben. Die Reliabilitätsschätzung mittels Cronbachs α lag auch für die Subskalen zwischen 0,809 und 0,931. Hohe PAS-Scores, die eine schlechte prämorbide Anpassung repräsentieren, korrelierten jeweils signifikant mit niedrigem Alter bei Krankheitsbeginn, hohen PANSS-Werten, schleichendem Krankheitsbeginn, langer Dauer der stationären Behandlung und schwerem Krankheitsverlauf. Der PAS-Schwellenwert lag zwischen gesunden und kranken Probanden bei 0,23, ein eher ungünstiger Krankheitsverlauf zeichnete sich bei PAS-Werten 〉 0,53 ab. Die Vorhersagewahrscheinlichkeit für die Schizophrenie lag bei PAS-Werten 〉 0,23 bei OR=27,9 (95% CI 9,39–82,89). Die vorgelegten Befunde stimmen mit der bisherigen Literatur überein.
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1433-0407
    Keywords: Schlüsselwörter Schizophrenie ; Genetik ; Schizophrenes Spektrum ; Kopplungsuntersuchungen ; Assoziationsuntersuchungen ; Key words Schizophrenia ; Genetics ; Schizophrenia spectrum ; Linkage studies ; Association studies
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Schizophrenia is a genetic complex disease as it does not follow monogenic transmission while non-familial environmental factors have a strong additional impact. A heterogenous, continuous phenotype is transmitted in families which can now be more precisely characterized. Genes coding for proteins with presumed pathophysiological relevance are apparently not playing a major causal role. However, in the last three years several (currently seven) candidate regions have been identified in a replicable manner by linkage studies. These regions are likely to host susceptibility genes for schizophrenia, but none of them has been identified up to now. Given these findings, polygenic transmission has now become very likely. The candidate regions are currently being narrowed down by various promising techniques.
    Notes: Zusammenfassung Die Schizophrenie gehört zu den genetisch komplexen Erkrankungen, die keinem monogenen Erbgang folgen und bei denen auch nichtfamiliäre Umgebungsfaktoren eine wichtige Rolle spielen. Dabei wird intrafamiliär ein heterogener, quantitativ variierender Phänotyp übertragen, der zunehmend genauer charakterisiert werden kann. Keines der bekannten Gene mit vermuteter pathophysiologischer Relevanz spielt nach den bisherigen Erkenntnissen eine substantielle Rolle. In den vergangenen drei Jahren ist es aber erstmals durch Kopplungsuntersuchungen gelungen, mehrere replizierbare Kandidatenregionen (derzeit sieben) auf dem Genom zu identifizieren, in denen vermutlich Suszeptibilitätsgene für Schizophrenie liegen. Keines dieser Gene wurde jedoch bislang identifiziert. Mit diesen Befunden ist eine polygene Übertragung der Schizophrenie sehr wahrscheinlich geworden. Verschiedene Techniken zur Eingrenzung der Kandidatenregionen werden derzeit erfolgreich angewandt.
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 1433-8491
    Keywords: Key words Pharmacogenetics ; Genetics ; Risk factor ; Choreoathetotic movements
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In the search for genetic factors contributing to tardive dyskinesia, dopamine receptor genes are considered major candidates. The dopamine D3 receptor is of primary interest as dopamine D3 receptor knock-out mice show locomotor hyperactivation resembling extrapyramidal side-effects of neuroleptic treatment. Furthermore, Steen and colleagues (1997) recently reported an association between tardive dyskinesia and a dopamine D3 receptor gene variant. In the present study we tried to replicate this finding. We investigated 157 patients with schizophrenia or schizoaffective disorder receiving long-term neuroleptic medication who never or persistently displayed tardive dyskinesia. As advanced age is a main risk factor for tardive dyskinesia, we also compared older patients with a long duration of schizophrenia not displaying tardive dyskinesia to younger patients with a shorter duration of the illness displaying tardive dyskinesia. However, we found no evidence that the dopamine D3 receptor gene is likely to confer susceptibility to the development of tardive dyskinesia.
    Type of Medium: Electronic Resource
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  • 6
    ISSN: 1435-1463
    Keywords: Adenosine A2a receptor ; candidate gene ; schizophrenia ; single-strand conformational analysis ; genetic variation ; association study
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Several lines of evidence suggest an involvement of adenosine A2a receptor (A2aAR) mediated adenosinergic neuromodulation in the etiopathogenesis of schizophrenia. We therefore perfomed a systematic mutation scan of the complete coding region of the human A2aAR gene in a sample of 42 schizophrenic patients. We detected one rare naturally occurring receptor variant (Gly-340-Ser) and two silent mutations (405C/T and 1083C/T). To our knowledge the Gly-340-Ser substitution is the first naturally occurring molecular variant of the A2aAR identified. Determining the frequency of the three variants in 42 unrelated healthy controls, we observed a significant trend towards an overrepresentation of the 1083T variant in patients when compared to controls (p=0.041). This trend was followed up in a large independent replication sample. However, we were not able to confirm the original trend in the second sample (p=0.367). The Ser-340 variant was found in a single schizophrenic individual. Investigation of the patient's family revealed independent segregation between the Ser-340 variant and psychiatric illness. Our data suggest that genetically determined structural variation of the A2aAR does not play a major role in the development of schizophrenia.
    Type of Medium: Electronic Resource
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