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  • Free Research Articles, Myeloid Neoplasia  (1)
  • Human immunodeficiency virus  (1)
  • Risk factor  (1)
  • Schizoaffective disorder  (1)
  • 1
    Electronic Resource
    Electronic Resource
    Amsterdam : Elsevier
    FEBS Letters 261 (1990), S. 373-377 
    ISSN: 0014-5793
    Keywords: Catalytic mechanism ; Human immunodeficiency virus ; Retroviral proteinase inhibitor
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Chemistry and Pharmacology , Physics
    Type of Medium: Electronic Resource
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  • 2
    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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  • 3
    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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  • 4
    Publication Date: 2016-09-02
    Description: Clonal evolution is believed to be a main driver for progression of various types of cancer and implicated in facilitating resistance to drugs. However, the hierarchical organization of malignant clones in the hematopoiesis of myelodysplastic syndromes (MDS) and its impact on response to drug therapy remain poorly understood. Using high-throughput sequencing of patient and xenografted cells, we evaluated the intratumoral heterogeneity (n= 54) and reconstructed mutational trajectories (n = 39) in patients suffering from MDS (n = 52) and chronic myelomonocytic leukemia-1 (n = 2). We identified linear and also branching evolution paths and confirmed on a patient-specific level that somatic mutations in epigenetic regulators and RNA splicing genes frequently constitute isolated disease-initiating events. Using high-throughput exome- and/or deep-sequencing, we analyzed 103 chronologically acquired samples from 22 patients covering a cumulative observation time of 75 years MDS disease progression. Our data revealed highly dynamic shaping of complex oligoclonal architectures, specifically upon treatment with lenalidomide and other drugs. Despite initial clinical response to treatment, patients’ marrow persistently remained clonal with rapid outgrowth of founder-, sub-, or even fully independent clones, indicating an increased dynamic rate of clonal turnover. The emergence and disappearance of specific clones frequently correlated with changes of clinical parameters, highlighting their distinct and far-reaching functional properties. Intriguingly, increasingly complex mutational trajectories are frequently accompanied by clinical progression during the course of disease. These data substantiate a need for regular broad molecular monitoring to guide clinical treatment decisions in MDS.
    Keywords: Free Research Articles, Myeloid Neoplasia
    Print ISSN: 0006-4971
    Electronic ISSN: 1528-0020
    Topics: Biology , Medicine
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