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  • 1
    ISSN: 1433-0407
    Keywords: Schlüsselwörter Schizophrenie ; Leonhard-Klassifikation ; Kataphasie ; Formale Denkstörungen ; Sprachliche Störungen ; Key words Schizophrenia ; Leonhard classification ; Cataphasia ; Formal thought disorder ; Speech disorder
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Cataphasia, one form of Leonhard’s unsystematic schizophrenias, shows a polymorphous, but nevertheless specific symptomatology. The key features of the psychopathology of this condition are formal thought and speech disorders. Hallucinations and delusional ideas can be present, but they are incidental and do not determine the syndrome. The characteristic elements of this thought disorder are logical derailment, paralogic thinking and, especially in the excited form, incoherence with contaminations up to ”word salad”. The speech shows strange verbalizations, paragrammatisms, agrammatisms, and occasionally neologisms. The course mostly fluctuates with acute attacks and incomplete remissions, leading to residual states of varying degrees of severity determined by a flattened and somewhat euphoric affect. Usually the disorder appears in an excited or inhibited form. In the latter case, thought disorder is difficult to recognize. Sometimes it can only be stated by the facial expression, which reveals an internal emptiness and dullness, and a tendency to stare fixedly at the examiner. Psychopharmacotherapy can diminish accompanying delusional ideas or hallucinations, but does not have much influences on the core syndrome of formal thought and speech disorder.
    Notes: Zusammenfassung Anhand kasuistischer Beispiele wird die Kataphasie, eine Form der unsystematischen Schizophrenien Leonhards, in ihrem vielgestaltigen, dabei aber doch stets charakteristischen Bild dargestellt. Zentrales Element der Erkrankung sind Störungen des formalen Denkens mit starker Beteiligung der sprachlichen Ebene. Halluzinationen und inhaltliche Denkstörungen kommen vor, dominieren jedoch niemals das Syndrom. Die Denkstörung ist gekennzeichnet durch logische Entgleisungen, paralogische Denkschritte und, vorwiegend in akuten Schüben mit erregter Ausgestaltung, durch Inkohärenz mit Kontaminationen bis hin zum „Wortsalat”. Auf sprachlicher Ebene finden sich para- und agrammatische Formulierungen, Wortentstellungen, Wortvergreifungen mit Verfehlung des kontextadäquaten Bedeutungsgehaltes und nicht selten unsinnige Neologismen. Der Verlauf gestaltet sich meist schubweise unter Ausbildung eines Defektzustandes mit gewöhnlich guter und freundlicher Zuwendung bei leicht verflachtem, eher heiterem Affekt. Die Störung manifestiert sich üblicherweise in erregter oder gehemmter Form, wobei in der gehemmten Form bei spärlichen bis fehlenden sprachlichen Äußerungen die Denkstörung v.a. an den Verhaltensweisen, geprägt von Ratlosigkeit bei leerem Gesichtsausdruck und oftmals stumpfem Fixieren des Gegenübers, zu erkennen ist. Psychopharmakologisch lassen sich die formalen Denkstörungen nicht wesentlich beeinflussen, dagegen begleitende inhaltliche Denkstörungen und Halluzinationen häufig eindämmen.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1433-0407
    Keywords: Schlüsselwörter Postpartale Psychosen ; Leonhard-Klassifikation ; Zykloide Psychosen ; Motilitätspsychose ; Key words Postpartal psychoses ; Leonhard-classification ; Cycloid psychoses ; Motility psychosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary In a polydiagnostic study, a systematically recruited collective of 34 women with a first-episode postpartum psychosis was reexamined after a period of 6–26 years (averaging 12.6 years) in order to establish lifetime-diagnoses according to ICD-10 and Leonhard's classification, and to determine course and outcome. According to ICD-10, unipolar depressive disorders (32%) and acute polymorphous psychotic disorders (28%) represented the most frequent diagnoses. Applying Leonhard's classification revealed a marked predominance of cycloid psychoses (62%) with the subform of motility psychosis being the most frequent diagnosis (38%). Schizophrenias occurred rarely according to both classifications. Investigating the long-term course, we found in 59% multiphasic disorders. The mean number of episodes per patient was 2.5 (range 2–6) with a mean duration of 9.8 weeks (SD=5.2). 6 patients (18%) had undergone a monophasic course, in 4 cases (12%) the course was not determinable. 17 women (50%) had 19 further deliveries during the follow-up period. The frequency of relapses in connection with a further delivery was 47%. Administering the Strauss-Carpenter-Outcome-Scale revealed a favourable outcome with a mean value of 14.1 (SD=2.83) for our total sample. Only 4 patients (12%) had never recovered fully since the onset of the illness. Our findings suggest that cycloid psychoses, in particular motility psychoses, account for the majority of postpartum psychoses, and do not support the hypothesis of a nosological independence of postpartum psychoses. They provide further evidence of a favourable prognosis of severe postpartum psychiatric disorder despite a relatively high rate of non-puerperal and especially puerperal relapses.
    Notes: Zusammenfassung 34 Patientinnen, bei denen eine endogene Psychose erstmals postpartal aufgetreten war, wurden im Mittel 12,6 Jahre (6–26 Jahre) nach Erkrankungsbeginn nachuntersucht. In einem polydiagnostischen Ansatz erfolgte eine Klassifikation nach den Kriterien der ICD-10 und nach Leonhard, um die Häufigkeit bestimmter Diagnosen zu ermitteln. Innerhalb der ICD-10 zeigte sich eine Verteilung auf ein breites Spektrum von Störungen mit unipolaren depressiven Störungen (32%) und akuten polymorphen psychotischen Störungen (28%) als häufigsten Diagnosen. Die Anwendung der Leonhard-Klassifikation ergab dagegen ein klares Dominieren zykloider Psychosen (62%) und hierbei insbesondere der Subform der Motilitätspsychosen (38%). Schizophrenien waren entsprechend beider Klassifikationen selten. Die Erkrankungen verliefen überwiegend multiphasisch (59%); nur in 6 Fällen (18%) waren monophasische Verläufe zu beobachten, bei 4 Patientinnen (12%) war eine genaue Bestimmung nicht möglich. Die durchschnittliche Anzahl der Phasen betrug 2,5 (2–6) bei einer mittleren Dauer von 9,8 (SD=5,2) Wochen. 17 Patientinnen (50%) hatten 19 weitere Entbindungen, von denen 47% mit einem Rezidiv der Erkrankung verbunden waren. Der Ausgang war insgesamt sehr günstig mit einem Mittelwert von 14,1 (SD 2,83) für das Gesamtkollektiv auf der Strauss-Carpenter-Skala. Lediglich 4 Patientinnen (12%) wiesen einen Verlauf ohne Vollremission und mit Ausbildung einer Residualsymptomatik auf. Unsere Ergebnisse sprechen gegen eine nosologische Eigenständigkeit postpartaler Psychosen. Vielmehr machen zykloide Psychosen und hierbei insbesondere Motilitätspsychosen den größten Teil postpartaler Psychosen aus. Trotz einer deutlichen Neigung zu Rezidiven, insbesondere auch in Verbindung mit weiteren Entbindungen, ist die Prognose insgesamt günstig.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1433-0407
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1433-0407
    Keywords: Schlüsselwörter Septum pellucidum ; Entwicklungs- störungen ; Zerebrale Fehlbildungen ; Schizophrenie ; Magnetresonanztomographie ; Key words Septum pellucidum ; Developmental disorder ; Cerebral malformations ; Schizophrenia ; MRI
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Absence of the septum pellucidum is a rare developmental disorder of the human brain. Previous reports focused on the association with other cerebral anomalies. We present MRI scans showing an isolated absence of the septum pellucidum. The patient was suffering from a schizophrenic psychosis. Mental retardation or epileptic seizures, which are often found in more complex developmental brain disorders, were not observed. The septal area is part of the limbic system and aplasia of the septum pellucidum could indicate developmental anomalies of the limbic system. The concept of cerebral maldevelopment and the limbic system in schizophrenic psychosis is discussed.
    Notes: Zusammenfassung Die isolierte Aplasie des Septum pellucidum gehört zu den seltenen dysplastischen Fehlbildungen des Gehirns. Während in älteren Arbeiten das Fehlen des Septum pellucidum meistens im Zusammenhang mit weiteren zerebralen Fehlbildungen berichtet wird, so zeigen neuere Untersuchungen doch häufiger auch isolierte Aplasien ohne weitere Fehlbildungen des Gehirns. Dabei scheint ein breites Spektrum der Fehlbildungen von komplexen Hirnfehlbildungen bis hin zur einfachen Aplasie des Septum pellucidum zu reichen. Kasuistisch wird über die Aplasie des Septum pellucidum bei einem Patienten berichtet, welche kernspintomographisch im Rahmen der routinemäßig durchgeführten bildgebenden Diagnostik gefunden wurde. Klinisch wurde bei dem Patienten eine hebephrene Psychose diagnostiziert. In der Ätiologie der schizophrenen Psychosen werden dysontongenetische Mechanismen diskutiert, v.a. Migrationsstörungen in limbischen Strukturen. Eine erhöhte Inzidenz von Anomalien des Septum pellucidum, v.a. Septum-pellucidum-Zysten ist von mehreren Autoren bei schizophrenen Patienten berichtet worden. Die Bedeutung des Septum pellucidum und des Septum verum als Bestandteile des limbischen Systems werden erörtert und eine mögliche Relevanz für das Konzept der dysontogenetischen Ätiologie schizophrener Psychosen wird diskutiert.
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    Springer
    European archives of psychiatry and clinical neuroscience 245 (1995), S. 135-141 
    ISSN: 1433-8491
    Keywords: Schizophrenia ; Periodic catatonia ; Inheritance ; Anticipation ; Leonhard classification
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In a family study involving 139 probands with DSM-III-R catatonic schizophrenia and 543 first-degree relatives, we investigated age-specific morbidity risk according to Leonhard's clinical distinction between systematic and periodic catatonia. This dichotomy is based on different types of symptomatology, course, and outcome. In systematic catatonia the age-corrected morbility risk was 4.6%. In periodic catatonia, however, there was an age-corrected morbidity risk with homogenous psychoses of 26.9%, and more parents than siblings were affected. This points strongly to a major gene effect in periodic catatonia. Furthermore, a pairwise comparison of patients and their parents revealed patterns of anticipation, i.e., the probands' age at the onset of disease was significantly earlier than that of their parents (P〈0.001). Similarly, anticipation was apparent in pedigrees with three successive generations affected. This inheritance pattern with homogenous psychoses and anticipation indicates that genes with trinucleotid repeat expansion or other repetitive elements affecting gene expression may be involved in the etiology of periodic catatonia. Thus, periodic catatonia as a specific clinical subtype of schizophrenia is a promising candidate for molecular genetic evaluation.
    Type of Medium: Electronic Resource
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  • 6
    ISSN: 1433-8491
    Keywords: Key words 5-HTT ; Serotonin transporter ; Gene ; Promoter ; Allelic variation ; Repeat element ; polymorphism ; Schizophrenia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A possible dysregulation of serotonergic neurotransmission has been implicated in the aetiology of schizophrenic psychoses. In the present study we analysed allelic and genotypic variations of a recently described functional polymorphic region in the promoter of the human serotonin transporter gene (5-HTTLPR) and a variable tandem repeat (VNTR) in intron 2 of the 5-HTT gene. We investigated 413 unrelated individuals, 180 schizophrenic patients and 233 blood donors as controls. With regard to the 5-HTTLPR, both the schizophrenic and the control group did not significantly differ between genotype frequencies (χ2, p = 0.920) and allele frequencies (χ2, p = 0.836). The odds ratio for subjects with schizophrenia who were homozygous for the short allele was 1.04 (95% CI 0.59–1.84). No evidence of allelic association to specific schizophrenia subtypes was found. The 5-HTT associated VNTR also showed no significant differences between either the allelic or the genotypic distributions. Haplotype analysis revealed a significant overall linkage disequilibrium at a level of p = 0.00004. Our findings indicate that both polymorphisms are unlikely to play a substantial role in the genetic predisposition to schizophrenic disorders.
    Type of Medium: Electronic Resource
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  • 7
    ISSN: 1435-1463
    Keywords: Keywords: Dopamine D2 receptor ; gene ; promoter ; polymorphism ; linkage ; schizophrenia ; bipolar affective disorder.
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary. A possible dysregulation of dopaminergic neurotransmission has been implicated in the aetiology of schizophrenic psychoses, in particular of paranoid-hallucinatory states, and of the manic episodes of bipolar affective disorder. In the present study we analysed allelic and genotypic variations of a recently described functional deletion/insertion variant (−141C Ins/Del) in the 59 flanking region of the human dopamine D2 receptor gene. We investigated a total of 620 unrelated individuals, comprising 260 schizophrenic patients, 70 patients with bipolar affective disorder, and 290 population controls. Analysis of the −141C Ins/Del variant revealed that the schizophrenic, bipolar affective and control groups did not differ significantly regarding genotype frequencies and allele frequencies. No evidence of an allelic association with either a family history of schizophrenic psychosis or a diagnosis of schizophrenia of the paranoid type (according to ICD 10) was found. Our findings indicate that the −141C Del variant in the 5′ flanking region of the human dopamine D2 receptor gene is unlikely to play a substantial role in genetic predisposition to major psychiatric disorders in Caucasians.
    Type of Medium: Electronic Resource
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  • 8
    ISSN: 1435-1463
    Keywords: Keywords: Norepinephrine transporter, promoter, gene expression, depression ; Abbreviations NET norepinephrine transporter; 5' UTR 5' untranslated region; RACE rapid amplification of cDNA ends; CRE cAMP response element
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary. The norepinephrine transporter (NET) plays a critical role in brain norepinephrine homeostasis and is a target for antidepressants and drugs of abuse. We have analyzed the 5'flanking regulatory region of the human NET gene (SLC6A2). Primer extension and 5' RACE revealed a single transcription start site, alternative splicing of exon 1 due to alternate splice donor usage, and a variable splice acceptor of intron 1. A TA-rich motif 35 bp upstream of the transcription start and several potential binding sites for transcription factors including a cAMP response element (CRE)-like motif are present in the 5'-flanking region. A 4.0-kb fragment, which had been fused to the luciferase reporter gene and transiently expressed in a NET+ cell line, displayed both constitutive and inducible promoter activity. Functional analysis by serial deletions revealed several clusters of cell-selective enhancer elements. Our findings indicate that (1) the NET gene promoter is active in NET-expressing cells and the information contained within ∼4 kb of the 5'-flanking sequence is required to confer its cell-selective expression, (2) the expression of NET is regulated by a combination of positive cis-acting elements operating through a basal promoter defined by a TA-rich motif, and (3) the promoter responds to cAMP-dependent induction. Fusion of the human NET gene promoter to selected genes will facilitate their cell-selective expression in gene transfer strategies.
    Type of Medium: Electronic Resource
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  • 9
    ISSN: 1435-1463
    Keywords: Keywords: Serotonin transporter, promoter, somatic deletion, mosaicism, depression, Alzheimer's disease.
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary. Transcriptional activity of the human serotonin transporter gene (5HTT) is modulated by complex interaction of multiple genomic and cellular factors. Variability of a polymorphic repetitive element (5HTTLPR) is associated with anxiety, depression, and aggression-related traits and may influence the risk to develop affective spectrum disorders. 5HTTLPR variants display a unique DNA secondary structure that has the potential to regulate the transcriptional activity of the associated 5HTT promoter. The structure of the 5HTTLPR is also likely to precipitate a 381-bp somatic deletion in the 5HTT's promoter region [del(17)(q11.2)] that is observed in 20–60% of genomic DNA isolated from mononuclear blood cells and postmortem brain. The localization of the deletion breakpoints adjacent to identical putative signal sequences (CAGCC) suggests a V(D)J recombinase-like rearrangement event. In comparison with healthy controls, del(17)(q11.2)/wildtype sequence ratios showed a decrease of the deleted variant in recurrent unipolar depression. Our results also suggest that mosaicism of del(17)(q11.2) is likely to be regulated by tissue-specific as well as 5HTTLPR-dependent mechanisms. The findings confirm that the pericentric region of human chromosome 17 is highly unstable and furnishs additional evidence for intricate complexity of 5HTT regulation under physiological condition and in disease.
    Type of Medium: Electronic Resource
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  • 10
    ISSN: 1435-1463
    Keywords: Association study ; B37 CAG repeat locus ; chromosome 12 ; schizophrenia ; periodic catatonia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Clinical evidence for a dominant mode of inheritance and anticipation in periodic catatonia, a distinct subtype of schizophrenia, indicates that genes with triplet repeat expansions or other unstable repetitive elements affecting gene expression may be involved in the etiology of this disorder. Because patients affected with dentatorubral-pallidoluysian atrophy (DRPLA) may present with “schizophrenic” symptoms, we have investigated the DRPLA (B 37 CAG repeat) locus on chromosome 12 in 41 patients with periodic catatonia. The B 37 CAG repeat locus was highly polymorphic but all alleles in both the patient and control group had repeat sizes within the normal range. We conclude that variation at the DRPLA locus is unlikely to be associated with periodic catatonia. The evidence for dominant inheritance and anticipation as well as the high prevalence of human brain genes containing trinucleotide repeats justifies further screening for triplet repeat expansions in periodic catatonia.
    Type of Medium: Electronic Resource
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