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1.
BMC Psychiatry ; 16: 282, 2016 08 09.
Artículo en Inglés | MEDLINE | ID: mdl-27506387

RESUMEN

BACKGROUND: Suicidality is an individual behaviour caused by a complex framework of internal and external factors. The predictive values of personality traits for a suicide attempt have been demonstrated, especially in conjunction with Cloninger's TCI and impulsivity. Two issues remain unsolved, namely whether these traits alter over time after a suicide attempt, and how they may be influenced by depressive symptoms. METHODS: We studied two patient cohorts: one sample of 81 patients after a suicide attempt no longer than 3 months previously (SA early) and another sample of 32 patients whose attempt had taken place more than 6 months previously (SA late). We carried out structured interviews with these subjects addressing diagnosis (MINI), suicidality (Scale for suicide ideation), depression (HAMD-17), temperament and character inventory (TCI), and impulsivity (BIS-10). Data analysis was done using SPSS 16.0. RESULTS: Our two groups did not differ significantly in sociodemographics or suicidality. However, patients in the SA early group were significantly more depressed (p < 0.001), and scored lower in reward dependence (p < 0.001) and persistence (p = 0.005) but higher in harm avoidance (p < 0.001); they did not differ significantly in impulsivity (p < 0.01). Reward dependence, persistence, and harm avoidance remained significantly different between the two groups after controlling for depressive symptoms. CONCLUSIONS: Our findings suggest that some personality traits vary after a suicide attempt. Further investigations are necessary to verify our results, ideally in longitudinal studies with larger, carefully-described cohorts. It would be also clinically important to investigate the influence of therapeutic strategies on the variability of personality traits and their impact on suicidal behavior.


Asunto(s)
Conducta Impulsiva , Trastornos de la Personalidad/psicología , Personalidad , Intento de Suicidio/psicología , Adulto , Depresión/psicología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Inventario de Personalidad , Autoeficacia , Ideación Suicida , Factores de Tiempo
2.
Schizophr Res ; 2022 Nov 07.
Artículo en Inglés | MEDLINE | ID: mdl-36357299

RESUMEN

Abnormal movements are intrinsic to some forms of endogenous psychoses. Spontaneous dyskinesias are observed in drug-naïve first-episode patients and at-risk subjects. However, recent descriptions of spontaneous dyskinesias may actually represent the rediscovery of a more complex phenomenon, 'parakinesia' which was described and documented in extensive cinematographic recordings and long-term observations by German and French neuropsychiatrists decades before the introduction of antipsychotics. With the emergence of drug induced movement disorders, the description of parakinesia has been refined to emphasize the features enabling differential diagnosis with tardive dyskinesia. Unfortunately, parakinesia was largely neglected by mainstream psychiatry to the point of being almost absent from the English-language literature. With the renewed interest in motor phenomena intrinsic to SSD, it was timely not only to raise awareness of parakinesia, but also to propose a scientifically usable definition for this phenomenon. Therefore, we conducted a Delphi consensus exercise with clinicians familiar with the concept of parakinesia. The original concept was separated into hyperkinetic parakinesia (HPk) as dyskinetic-like expressive movements and parakinetic psychomotricity (PPM), i.e., patient's departing from the patient's normal motion style. HPk prevails on the upper part of the face and body, resembling expressive and reactive gestures that not only occur inappropriately but also appear distorted. Abnormal movements vary in intensity depending on the level of psychomotor arousal and are thus abated by antipsychotics. HPk frequently co-occurs with PPM, in which gestures and mimics lose their naturalness and become awkward, disharmonious, stiff, mannered, and bizarre. Patients are never spontaneously aware of HPk or PPM, and the movements are never experienced as self-dystonic or self-alien. HPk and PPM are highly specific to endogenous psychoses, in which they are acquired and progressive, giving them prognostic value. Their differential diagnoses and correspondences with current international concepts are discussed.

3.
Eur Neuropsychopharmacol ; 56: 60-73, 2022 03.
Artículo en Inglés | MEDLINE | ID: mdl-34942409

RESUMEN

Current classification systems use the terms "catatonia" and "psychomotor phenomena" as mere a-theoretical descriptors, forgetting about their theoretical embedment. This was the source of misunderstandings among clinicians and researchers of the European collaboration on movement and sensorimotor/psychomotor functioning in schizophrenia and other psychoses or ECSP. Here, we review the different perspectives, their historical roots and highlight discrepancies. In 1844, Wilhelm Griesinger coined the term "psychic-motor" to name the physiological process accounting for volition. While deriving from this idea, the term "psychomotor" actually refers to systems that receive miscellaneous intrapsychic inputs, convert them into coherent behavioral outputs send to the motor systems. More recently, the sensorimotor approach has drawn on neuroscience to redefine the motor signs and symptoms observed in psychoses. In 1874, Karl Kahlbaum conceived catatonia as a brain disease emphasizing its somatic - particularly motor - features. In conceptualizing dementia praecox Emil Kraepelin rephrased catatonic phenomena in purely mental terms, putting aside motor signs which could not be explained in this way. Conversely, the Wernicke-Kleist-Leonhard school pursued Kahlbaum's neuropsychiatric approach and described many new psychomotor signs, e.g. parakinesias, Gegenhalten. They distinguished 8 psychomotor phenotypes of which only 7 are catatonias. These barely overlap with consensus classifications, raising the risk of misunderstanding. Although coming from different traditions, the authors agreed that their differences could be a source of mutual enrichment, but that an important effort of conceptual clarification remained to be made. This narrative review is a first step in this direction.


Asunto(s)
Catatonia , Neurociencias , Trastornos Psicóticos , Catatonia/diagnóstico , Catatonia/terapia , Consenso , Humanos , Desempeño Psicomotor , Trastornos Psicóticos/diagnóstico
4.
Eur Arch Psychiatry Clin Neurosci ; 261(5): 341-7, 2011 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-21267744

RESUMEN

Brief hypomania lasting less than 4 days may impair functioning and help to detect bipolarity. This study analyzed brief hypomania that occurred in patients with bipolar disorder who were diagnosed according to the DSM-IV criteria. Daily self-reported mood ratings were obtained from 393 patients (247 bipolar I and 146 bipolar II) for 6 months (75,284 days of data, mean 191.6 days). Episodes of hypomania were calculated using a 4, 3, 2, and single day length criterion. Brief hypomania occurred frequently. With a decrease in the minimum criterion from 4 days to 2 days, there were almost twice as many patients with an episode of hypomania (102 vs. 190), and more than twice as many episodes (305 vs. 863). Single days of hypomania were experienced by 271 (69%) of the sample. With a 2-day episode length, 33% of all hypomania remained outside of an episode. There was no significant difference in the percent of hypomanic days outside of an episode between patients with bipolar I and II disorders. There were no significant differences in the demographic characteristics of patients who met the 4-day minimum as compared with those who only experienced episodes of hypomania using a shortened length criterion. Decreasing the minimum length criterion for an episode of hypomania will cause a large increase in the number of patients who experience an episode and in the aggregate number of episodes, but will not distinguish subgroups within a sample who meet the DSM-IV criteria for bipolar disorder. Frequency may be an important dimensional aspect of brief hypomania. Clinicians should regularly probe for brief hypomania.


Asunto(s)
Trastorno Bipolar/diagnóstico , Trastorno Bipolar/psicología , Autoinforme , Adolescente , Adulto , Trastorno Bipolar/clasificación , Femenino , Humanos , Masculino , Persona de Mediana Edad , Escalas de Valoración Psiquiátrica , Factores de Tiempo , Adulto Joven
5.
Pilot Feasibility Stud ; 6: 145, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-33005433

RESUMEN

BACKGROUND: Suicide risk of psychiatric patients has proven to be strongly increased in the months after discharge from a psychiatric hospital. Despite this high risk, there is a lack of systematic research on the causes of this elevated suicide risk as well as a lack of treatment and intervention for patients at high risk after discharge. The main objective of this pilot study is, firstly, to examine the factors contributing to the elevated suicide risk and, secondly, to investigate whether an additional setting of care starting at discharge may reduce suicidality. METHODS: In this multi-centre pilot study, treatment as usual is complemented by an additional 18-month post-discharge setting of care for psychiatric patients at high risk for suicide. Two groups of patients differing in the amount of post-discharge personal contacts will be compared. One group of patients will be offered continuous personal contacts after discharge (months 1-6: monthly contacts; months 6-18: every 2 months) while another group of patients will receive contacts only at months 6, 12, and 18 after discharge. Data on suicidality, as well as associated with other symptoms, treatment, and significant events, will be collected. In the case of health-related severe events, the setting of care allows the patient to have the opportunity to connect with the doctor or therapist treating the patient. DISCUSSION: The results of this study will contribute to identifying critical factors raising suicide risk after discharge and will demonstrate the potential influence on suicide prevention of a setting of care with regular personal contact after discharge. TRIAL REGISTRATION: ZMVI1-2517FSB135 - funded by the German Federal Ministry of Health.

6.
Dialogues Clin Neurosci ; 22(1): 37-49, 2020 03.
Artículo en Inglés | MEDLINE | ID: mdl-32699504

RESUMEN

While the ICD-DSM paradigm has been a major advance in clinical psychiatry, its usefulness for biological psychiatry is debated. By defining consensus-based disorders rather than empirically driven phenotypes, consensus classifications were not an implementation of the biomedical paradigm. In the field of endogenous psychoses, the Wernicke-Kleist-Leonhard (WKL) pathway has optimized the descriptions of 35 major phenotypes using common medical heuristics on lifelong diachronic observations. Regarding their construct validity, WKL phenotypes have good reliability and predictive and face validity. WKL phenotypes come with remarkable evidence for differential validity on age of onset, familiality, pregnancy complications, precipitating factors, and treatment response. Most impressive is the replicated separation of high- and low-familiality phenotypes. Created in the purest tradition of the biomedical paradigm, the WKL phenotypes deserve to be contrasted as credible alternatives with other approaches currently under discussion.
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Asunto(s)
Manual Diagnóstico y Estadístico de los Trastornos Mentales , Fenotipo , Trastornos Psicóticos/clasificación , Trastornos Psicóticos/diagnóstico , Encefalopatía de Wernicke/clasificación , Encefalopatía de Wernicke/diagnóstico , Humanos , Reproducibilidad de los Resultados
7.
J Neural Transm (Vienna) ; 116(6): 785-90, 2009 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-18810305

RESUMEN

Test anxiety is a significant problem among university students which is frequently accompanied by a decline in performance and severe psychological problems. Studies of treatment methods of test anxiety were identified using literature searches of the Cochrane Library database of randomized controlled trials. A variety of intervention techniques for the treatment of test anxiety was detected, from which cognitive behavioral methods were found to be most effective for the treatment of test anxiety. According to empirical findings, university students should be taught strategies to cope with the demands and organization of their studies at a very early stage to prevent test anxiety and its concomitants. The University of Würzburg (Germany) started a pilot project in fall 2007 comprising lectures and peer coaching with the aim to optimize learning skills and exam preparation to prevent test anxiety. The evaluation of the present concept showed a high level of acceptance among students.


Asunto(s)
Ansiedad/prevención & control , Terapia Conductista/métodos , Estudiantes/psicología , Alemania , Humanos , Aceptación de la Atención de Salud , Proyectos Piloto , Escala de Ansiedad ante Pruebas , Universidades
8.
Psychiatry Res ; 141(3): 247-52, 2006 Mar 30.
Artículo en Inglés | MEDLINE | ID: mdl-16500712

RESUMEN

Deficits in emotional processing are evident in schizophrenia, but the underlying processes are still under debate. In this study we tried to replicate findings of diminished prefrontal electroencephalographic response during facial affect recognition in healthy controls and subsequently in schizophrenic patients. As a first step, we analysed the event-related potentials (ERPs) of 36 healthy subjects during emotional expression decoding compared with neutral face viewing. Subsequently, the ERPs of 22 patients with schizophrenia were compared with the ERPs of 22 healthy subjects matched for age and sex. The hypothesised increase in the negative component at 200 ms over frontal brain regions during facial affect decoding was not found in this study. Instead we found increased positive amplitudes at 300 ms over parietal brain areas for the active affect-decoding task compared with the passive neutral face-viewing task. Interestingly, schizophrenic patients had higher amplitudes in the neutral condition than did healthy controls. This effect was more pronounced in the paranoid subgroup of patients.


Asunto(s)
Afecto , Encéfalo/fisiopatología , Potenciales Evocados/fisiología , Expresión Facial , Reconocimiento en Psicología , Esquizofrenia Paranoide/fisiopatología , Adulto , Trastornos del Conocimiento/diagnóstico , Trastornos del Conocimiento/etiología , Femenino , Humanos , Masculino , Corteza Prefrontal/fisiopatología , Esquizofrenia Paranoide/complicaciones , Psicología del Esquizofrénico
9.
BMC Psychiatry ; 6: 52, 2006 Nov 02.
Artículo en Inglés | MEDLINE | ID: mdl-17081296

RESUMEN

BACKGROUND: A dysregulation of the hypothalamic-pituitary-adrenal (HPA) axis has been proposed as an important pathogenic factor in depression. Genetic variants of FKBP5, a protein of the HPA system modulating the glucocorticoid receptor, have been reported to be genetically associated with improved response to medical treatment and an increase of depressive episodes. METHODS: We examined three single nucleotide polymorphisms (SNPs) in FKBP5, rs4713916 in the proposed promoter region, rs1360780 in the second intron and rs3800373 in the 3'-untranslated region (3'-UTR), in a case-control study of Caucasian origin (affective psychosis: n = 248; controls: n = 188) for genetic association and association with disease related traits. RESULTS: Allele and genotype frequencies of rs4713916, rs1360780 and rs3800373 were not significantly different between cases and controls. Two three-locus haplotypes, G-C-T and A-T-G, accounted for 86.2% in controls. Odds ratios were not increased between cases and controls, except the rare haplotype G-C-G (OR 6.81), representing 2.1% of cases and 0.3% of controls. The frequency of rs4713916AG in patients deviated from expected Hardy-Weinberg equilibrium, the genotype AA at rs4713916 in monopolar depression (P = 0.011), and the two-locus haplotype rs1360780T--rs3800373T in the total sample (overall P = 0.045) were nominally associated with longer continuance of disease. CONCLUSION: Our data do not support a significant genetic contribution of FKBP5 polymorphisms and haplotypes to affective psychosis, and the findings are inconclusive regarding their contribution to disease-related traits.


Asunto(s)
Trastorno Bipolar/genética , Trastorno Depresivo/genética , Marcadores Genéticos , Polimorfismo de Nucleótido Simple , Proteínas de Unión a Tacrolimus/genética , Trastorno Bipolar/psicología , Estudios de Casos y Controles , Trastorno Depresivo/psicología , Femenino , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Regiones Promotoras Genéticas
10.
BMC Psychiatry ; 5: 35, 2005 Oct 14.
Artículo en Inglés | MEDLINE | ID: mdl-16225675

RESUMEN

BACKGROUND: The chromosome 22q11 region is proposed as a major candidate locus for susceptibility genes to schizophrenia. Recently, the gene ZDHHC8 encoding a putative palmitoyltransferase at 22q11 was proposed to increase liability to schizophrenia based on both animal models and human association studies by significant over-transmission of allele rs175174A in female, but not male subjects with schizophrenia. METHODS: Given the genetic complexity of schizophrenia and the potential genetic heterogeneity in different populations, we examined rs175174 in 204 German proband-parent triads and in an independent case-control study (schizophrenic cases: n = 433; controls: n = 186). RESULTS: In the triads heterozygous parents transmitted allele G preferentially to females, and allele A to males (heterogeneity chi2 = 4.43; p = 0.035). The case-control sample provided no further evidence for overall or gender-specific effects regarding allele and genotype frequency distributions. CONCLUSION: The findings on rs175174 at ZDHHC8 are still far from being conclusive, but evidence for sexual dimorphism is moderate, and our data do not support a significant genetic contribution of rs175174 to the aetiopathogenesis of schizophrenia.


Asunto(s)
Aciltransferasas/genética , Cromosomas Humanos Par 22/genética , Familia , Proteínas de la Membrana/genética , Esquizofrenia/genética , Dedos de Zinc/genética , Adulto , Estudios de Casos y Controles , Femenino , Heterogeneidad Genética , Marcadores Genéticos , Predisposición Genética a la Enfermedad , Variación Genética , Genotipo , Humanos , Intrones/genética , Desequilibrio de Ligamiento , Masculino , Linaje , Polimorfismo de Nucleótido Simple/genética , Caracteres Sexuales , Factores Sexuales
12.
World J Biol Psychiatry ; 5(3): 136-42, 2004 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-15346537

RESUMEN

OBJECTIVE: Cycloid psychoses represent a nosological entity not adequately recognised by contemporary psychiatry. They present with full recoveries after each psychotic episode and, thus, have a favourable prognosis. METHOD: To verify this clinical observation course, outcome and quality of life (QoL, measured by the German version of the Lancashire Quality of Life Profile) of 33 patients with cycloid psychosis and 44 schizophrenics were compared after a mean time of 13 years since first hospitalisation. For comparison of objective and subjective QoL measures, 48 healthy controls were included. RESULTS: Concerning the course of their disease, schizophrenics were hospitalised significantly longer and received higher neuroleptic doses than patients with cycloid psychosis. The latter displayed significantly better scores in the CGI, GAF, Strauss-Carpenter-Outcome and PANSS scales. In global QoL measures, cycloid psychotic patients were more satisfied with their QoL than schizophrenic patients, and did not differ significantly from healthy controls. CONCLUSION: Cycloid psychoses seem to exhibit a better prognosis than schizophrenia regarding course, outcome, objective, and subjective aspects of QoL. Thus, they appear to present a useful concept deserving more clinical and scientific attention.


Asunto(s)
Periodicidad , Trastornos Psicóticos , Calidad de Vida , Esquizofrenia/complicaciones , Esquizofrenia/tratamiento farmacológico , Adolescente , Adulto , Anciano , Servicios Comunitarios de Salud Mental/estadística & datos numéricos , Demografía , Progresión de la Enfermedad , Femenino , Hospitalización/estadística & datos numéricos , Humanos , Masculino , Persona de Mediana Edad , Evaluación de Resultado en la Atención de Salud , Pronóstico , Trastornos Psicóticos/clasificación , Trastornos Psicóticos/complicaciones , Trastornos Psicóticos/terapia , Encuestas y Cuestionarios
13.
World J Biol Psychiatry ; 3(4): 200-6, 2002 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-12516311

RESUMEN

The concept of hebephrenia has undergone more changes than almost any other diagnostic category in clinical psychiatry. In the present article we want to outline these changes from Hecker's first description of hebephrenia to contemporary concepts mainly based on Bleuler's viewpoints. Due to rather heterogeneous and vaguely defined symptomatology, hebephrenia lost relevance as a diagnostic category in today's classification systems. As an alternative approach, Kleist and Leonhard see hebephrenias as forming distinct clinical entities with insidious beginning and a chronically progressive course leading to specific and stable residual syndromes, mainly featured by disturbed affectivity and, thus, initiative. As known up to now, hebephrenias within Leonhard's classification show poor prognosis, little response to treatment and low heredity. This concept of hebephrenia seems to be more appropriate to demarcate a homogeneous subtype which can be the subject of further promising research to clarify aetiology and nosology of schizophrenic spectrum psychoses.


Asunto(s)
Esquizofrenia Hebefrénica/psicología , Humanos , Factores de Tiempo
14.
Eur Psychiatry ; 18(4): 177-81, 2003 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-12814851

RESUMEN

OBJECTIVE: Patients treated by neuroleptics often develop neuroleptic-induced parkinsonism (NIP) to a varying extent. The reasons for this are discussed controversially in the literature. Previous transcranial sonography (TCS) findings of the substantia nigra (SN) in patients with idiopathic Parkinson's disease suggest a correlation of echogenicity with nigrostriatal dysfunction. METHOD: One hundred psychiatric patients receiving neuroleptics were included. They underwent clinical examination for NIP (Simpson and Angus-scale) and, independently, TCS of the SN. History of smoking habits and medication were taken from the patient's chart. RESULTS: We found a significant positive association of the prevalence of NIP with age (P < 0.01) and the echogenic area of the SN (P < 0.05). Neither type nor dosage of the neuroleptics was found to have any significant impact on the occurrence of NIP. Smokers displayed lower prevalence of NIP (P < 0.05) and lower EPS scores (P < 0.01). CONCLUSIONS: These findings suggest that age and increased size of SN echogenicity are possible risk factors for NIP. In contrast, smoking seems to have a certain protecting effect.


Asunto(s)
Antipsicóticos/efectos adversos , Enfermedad de Parkinson Secundaria/inducido químicamente , Trastornos Psicóticos/tratamiento farmacológico , Esquizofrenia/tratamiento farmacológico , Adulto , Anciano , Antipsicóticos/uso terapéutico , Cuerpo Estriado/diagnóstico por imagen , Cuerpo Estriado/efectos de los fármacos , Ecoencefalografía , Femenino , Humanos , Aumento de la Imagen , Procesamiento de Imagen Asistido por Computador , Masculino , Persona de Mediana Edad , Vías Nerviosas/diagnóstico por imagen , Vías Nerviosas/efectos de los fármacos , Examen Neurológico/efectos de los fármacos , Enfermedad de Parkinson Secundaria/diagnóstico , Trastornos Psicóticos/diagnóstico por imagen , Factores de Riesgo , Esquizofrenia/diagnóstico por imagen , Fumar , Sustancia Negra/diagnóstico por imagen , Sustancia Negra/efectos de los fármacos
15.
World J Biol Psychiatry ; 13(3): 188-99, 2012 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-21517702

RESUMEN

OBJECTIVES: One of the neurobiological core features of schizophrenic illnesses is a hypo-functionality of the frontal cortex ("cerebral hypofrontality"). The two major classes of antipsychotic medication differ regarding their impact on frontal lobe function and metabolism, with a presumably more positive effect of "atypical" compared to "typical" agents. To date, neurobiological markers reliably predicting the treatment response to different antipsychotics are lacking. The present study, therefore, aimed at establishing a neurophysiological marker of frontal lobe function (NoGo-Anteriorization, NGA) as a predictor of the treatment response to first- and second-generation antipsychotics. METHODS: Seventy-six schizophrenic patients were examined three times over a 6-week study period. Patients were treated with first- or second-generation antipsychotics, and NGA, neurocognitive performance, and symptomatology were assessed on admission as well as during two follow-up measurements. RESULTS: Baseline NGA values significantly predicted the treatment response to typical and atypical antipsychotics; however, the direction of this prediction was dependent on the antipsychotic drug regimen. Moreover, atypical antipsychotics had a superior impact on neurocognitive performance and self-reported quality of life. CONCLUSIONS: The NGA might be a useful tool in developing individualized treatment strategies based on pathophysiological aspects of schizophrenic illnesses that can be easily determined in clinical routine settings.


Asunto(s)
Antipsicóticos/uso terapéutico , Potenciales Evocados , Lóbulo Frontal/fisiopatología , Trastornos Psicóticos/tratamiento farmacológico , Trastornos Psicóticos/fisiopatología , Esquizofrenia/tratamiento farmacológico , Esquizofrenia/fisiopatología , Adulto , Biomarcadores , Mapeo Encefálico , Electroencefalografía , Femenino , Estudios de Seguimiento , Giro del Cíngulo/fisiopatología , Humanos , Inhibición Psicológica , Masculino , Persona de Mediana Edad , Pruebas Neuropsicológicas , Corteza Prefrontal/fisiopatología , Calidad de Vida
16.
World J Biol Psychiatry ; 10(4 Pt 3): 991-7, 2009.
Artículo en Inglés | MEDLINE | ID: mdl-19396702

RESUMEN

Panic disorder still remains a pervasive, life quality impairing disorder requiring adequate treatment options. In this case report we present the data of a patient with panic disorder and comorbid depression who was treated with high-frequency repetitive transcranial magnetic stimulation (rTMS) applied to the left prefrontal cortex over a course of 3 weeks. Measurements of the cerebral oxygenation with near-infrared spectroscopy (NIRS) during an emotional Stroop task before and after the rTMS treatment suggests that rTMS may modulate panic-related prefrontal brain dysfunctions in panic patients and that it may serve as a possible treatment option for anxiety disorders.


Asunto(s)
Trastorno de Pánico/terapia , Estimulación Magnética Transcraneal/métodos , Inhibidores de Captación Adrenérgica/uso terapéutico , Antagonistas Adrenérgicos alfa/uso terapéutico , Antagonistas Adrenérgicos beta/uso terapéutico , Adulto , Amitriptilina/uso terapéutico , Bisoprolol/uso terapéutico , Terapia Combinada , Quimioterapia Combinada , Moduladores del GABA/uso terapéutico , Humanos , Masculino , Trastorno de Pánico/tratamiento farmacológico , Sulfonamidas/uso terapéutico , Tamsulosina , Temazepam/uso terapéutico
17.
Eur Arch Psychiatry Clin Neurosci ; 256(7): 422-7, 2006 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-16783497

RESUMEN

The dopamine hypothesis of schizophrenia proposes an inherited or acquired presynaptic hyperactivity of dopaminergic neurons. The human dopamine transporter gene (hSLC6A3; hDAT) represents one major mechanism for the termination of dopaminergic neurotransmission. This study examines the degree of genetic association of the 5'-untranslated region (5'-UTR) of the hSLC6A3 to schizophrenia in a family-based association design. Five single nucleotide polymorphisms (SNPs) derived by a previous systematic mutation scan approximately 1.2 kb of the 5'-UTR of the hSLC6A3 locus were genotyped for transmission disequilibrium between 82 index cases (56 males) with schizophrenia and their biological parents. We observed no preferential transmission of alleles from heterozygous parents to affected offspring. Five estimated haplotypes accounted for a frequency of 90% in the index cases, and were identical in cases and non-transmitted parental control haplotypes. Distinct five-locus-genotypes accumulated in schizophrenia compared to parental controls at P-value 0.0038 with odds-ratio of 2.02 (95% CI 0.99-4.14). In conclusion, our present findings support the genetic involvement of distinct hSLC6A3 genotypes in schizophrenia. We propose replication in extended samples and examination of the functional relevance of the associated genotypes on human dopamine transporter expression.


Asunto(s)
Región de Flanqueo 5'/genética , Proteínas de Transporte de Dopamina a través de la Membrana Plasmática/genética , Esquizofrenia/genética , Adulto , Alelos , Secuencia de Bases , Análisis Mutacional de ADN , Familia , Femenino , Genotipo , Haplotipos , Humanos , Masculino , Polimorfismo de Longitud del Fragmento de Restricción , Polimorfismo de Nucleótido Simple/genética , Escalas de Valoración Psiquiátrica
18.
Bipolar Disord ; 8(5 Pt 1): 490-5, 2006 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-17042887

RESUMEN

OBJECTIVES: To determine the degree of association of five single nucleotide polymorphisms at the 5'-untranslated region (5'-UTR) of the human dopamine transporter gene (hSLC6A3; hDAT1) in bipolar affective disorder. METHODS: In a case-control design study, the polymorphisms were genotyped for allelic and genotypic distribution between 105 index cases (50 males) with bipolar affective disorder according to DSM IV and 199 unaffected control subjects (120 males). RESULTS: At the 5'-UTR locus of hSLC6A3, no significant allelic or genotypic differences were observed between index cases and controls. However, distinct 5-locus genotypes accumulated in subjects with bipolar affective disorder compared to control subjects (p = 0.029, odds ratio 1.84, 95% confidence interval 1.12-3.02). CONCLUSIONS: In conclusion, our data do not provide evidence for a major role of the 5'-UTR of the dopamine transporter gene in bipolar affective disorder. A minor contribution of distinct genotypes may be possible and warrants replication in extended samples.


Asunto(s)
Regiones no Traducidas 5'/genética , Trastorno Bipolar/genética , Proteínas de Transporte de Dopamina a través de la Membrana Plasmática/genética , Polimorfismo de Longitud del Fragmento de Restricción , Adulto , Alelos , Trastorno Bipolar/diagnóstico , Trastorno Bipolar/psicología , Estudios de Casos y Controles , Mapeo Cromosómico , Femenino , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Regiones Promotoras Genéticas
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