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1.
Rehabilitation (Stuttg) ; 56(3): 173-180, 2017 Jun.
Artigo em Alemão | MEDLINE | ID: mdl-28371963

RESUMO

The present study investigates whether the BEVA is suitable to detect negative response bias by claimants with psychosomatic symptoms in the social medical assessment. 107 claimants for disability pension to a psychosomatic disorder fulfilled the BEVA, SIMS and a sociodemographic questionnaire. The social medical examiners assess the credibility of the complaints representation. A Known-Group-Design and a Bootstrapping-Design was used to estimate the validity of the BEVA. For the external criterion SFSS the following psychometric characteristics for the BEVA could be determined: specificity=0.86, sensitivity=0.42, positive predictive value=0.81, negative predictive value=0.51. The interrater reliability estimates with Cohen κ=0.253. If the expert's assessments are chosen as external criterion following psychometric characteristics were estimated: specificity=0.71, sensitivity=0.32, positive predictive value=0.38, negative predictive value=0.66. The rater agreement is Cohen κ=0.031. The results show that the BEVA has an excellent specificity in the detection of negative response bias. This is highly desirable in terms of an ethically moral discussion. Furthermore, the study shows that - in addition to the expert estimates - further screenings can improve the assessment of negative response bias.


Assuntos
Avaliação da Deficiência , Simulação de Doença/diagnóstico , Programas de Rastreamento/normas , Psicometria/normas , Medicina Social/normas , Inquéritos e Questionários/normas , Avaliação de Sintomas/normas , Adulto , Reações Falso-Negativas , Feminino , Alemanha/epidemiologia , Humanos , Masculino , Simulação de Doença/epidemiologia , Simulação de Doença/psicologia , Programas de Rastreamento/psicologia , Pessoa de Meia-Idade , Prevalência , Psicometria/métodos , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Avaliação de Sintomas/psicologia
2.
Rehabilitation (Stuttg) ; 55(6): 381-387, 2016 Dec.
Artigo em Alemão | MEDLINE | ID: mdl-27923243

RESUMO

Objectives: Although individualized and ICF-oriented implementation of rehabilitation treatment requires knowledge of relevant contextual factors, there is a lack of operationalized documentation and measurement tools to evaluate these factors. Therefore, an ICF-oriented semi-structured interview was designed. Methods: 20 contextual factors were externally assessed whether they negatively affected mental functioning and participation of psychosomatic patients. Additionally, psychometric scales were applied. Results: Six relevant impairing contextual factors were identified. Contextual factors significantly correlated with psychometric scales. Patients with higher contextual impairment showed significantly higher psychological stress levels. Conclusions: Anamnesis of contextual factors at the beginning of psychosomatic rehabilitation yields important information for therapy planning. Further research on contextual factors in medical rehabilitation is needed.


Assuntos
Pessoas com Deficiência/classificação , Pessoas com Deficiência/reabilitação , Classificação Internacional de Funcionalidade, Incapacidade e Saúde/organização & administração , Transtornos Mentais/psicologia , Transtornos Mentais/reabilitação , Psicometria/métodos , Adulto , Idoso , Pessoas com Deficiência/estatística & dados numéricos , Feminino , Alemanha , Humanos , Masculino , Transtornos Mentais/classificação , Pessoa de Meia-Idade , Reabilitação , Adulto Jovem
3.
Rehabilitation (Stuttg) ; 55(3): 182-90, 2016 Jun.
Artigo em Alemão | MEDLINE | ID: mdl-27284732

RESUMO

AIM OF THE STUDY: A screening will be developed and validated which measure the negative response bias by inpatients with depressive symptoms. The questionnaire should be appropriate for the claimants for disability pension due to a mental illness. MATERIALS AND METHOD: The present study uses for the construction (K) and validation (V) an analog study design. Healthy participants (depression: K: N=58; V=100; pain: K: N=50; V: N=90) obtained a scenario to feign major depression or pain disorder in the BEVA. In addition, a control group (K: N=78; V: N=89), patients with major depression (K: N=58; V: N=162) and patients with pain disorder (K: N=35; V: N=46) completed the survey about their current mental complaints. RESULTS: Using the data of the construction sample the cut-off values were determined. In the validation sample could be analyzed a sensitivity of 0,75, specificity of 0,95, a positive predictive value of 0,90, and a negative predictive value of 0,86 for the study group "depression". For the pain group had a sensitivity of 0,81, specificity of 0,96, a positive predictive value of 0,97 and a negative predictive value of 0,72 resulted. CONCLUSION: The developed screening has very well values for the validity and reliability. Thus, the method seems suitable to measure negative response bias.


Assuntos
Transtorno Depressivo/diagnóstico , Avaliação da Deficiência , Simulação de Doença/diagnóstico , Programas de Rastreamento/métodos , Psicometria/métodos , Avaliação de Sintomas/métodos , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Transtorno Depressivo/psicologia , Feminino , Alemanha , Humanos , Masculino , Simulação de Doença/psicologia , Pessoa de Meia-Idade , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Adulto Jovem
4.
Rehabilitation (Stuttg) ; 54(3): 166-71, 2015 Jun.
Artigo em Alemão | MEDLINE | ID: mdl-25706517

RESUMO

AIMS OF THE STUDY: The study investigates whether the motivation for obtaining a pension together with written instructions change the response bias in symptom scales as well as symptom validity test. MATERIALS AND METHOD: 80 warned and 91 unwarned claimants for disability pension due to a mental illness were recruited. Participants completed a socio-demographic questionnaire (with statements to measure motivation), the module A of the HEALTH-49 as well as the SIMS. RESULTS: ANOVAs (analysis of variance) showed that warned claimants had significantly higher scores in total assets in symptom scales of the HEALTH-49 as well as the SIMS compared to the unwarned claimants. Warned persons showed higher odds for an invalid value in the SIMS. A regression analysis revealed that the item "retirement means for me a chance to be healthy" can predict the criterion total score of the SIMS. CONCLUSION: Warnings may produce negative response bias in symptom scales. Patients made negative response bias when they hope to recover through their pension.


Assuntos
Avaliação da Deficiência , Transtornos Mentais/psicologia , Motivação , Pensões , Inquéritos e Questionários , Avaliação de Sintomas/psicologia , Viés , Autoavaliação Diagnóstica , Documentação/métodos , Definição da Elegibilidade/métodos , Feminino , Alemanha , Humanos , Masculino , Transtornos Mentais/diagnóstico , Transtornos Mentais/reabilitação , Pessoa de Meia-Idade , Psicometria/métodos
5.
Rehabilitation (Stuttg) ; 51(5): 342-8, 2012 Oct.
Artigo em Alemão | MEDLINE | ID: mdl-23070888

RESUMO

When assessing mental disorders, there may appear different distortions of symptoms. Often patients exaggerate their complaints in order to achieve certain aims (e. g. retirement). Special symptom validity tests are therefore demanded as standard methods. These tests aim to verify the plausibility of the patient's symptoms, described at the assessment. This paper will give an overview of international and national research on symptom validation, manipulation of the test results, and coaching of patients.


Assuntos
Transtornos Mentais/diagnóstico , Testes Neuropsicológicos/normas , Psicometria/métodos , Transtornos Psicofisiológicos/diagnóstico , Diagnóstico Diferencial , Humanos , Transtornos Mentais/classificação , Transtornos Psicofisiológicos/classificação , Estudos de Validação como Assunto
6.
Rehabilitation (Stuttg) ; 51(5): 349-55, 2012 Oct.
Artigo em Alemão | MEDLINE | ID: mdl-23070889

RESUMO

OBJECTIVES: This study investigates how patients in psychosomatic rehabilitation are characterized, who show conspicuous response behavior in a symptom validation test. At the same time the question of whether patients with an unlikely response behavior may benefit from psychosomatic rehabilitation will be pursued. RESEARCH QUESTION: What proportion of patients in an inpatient psychosomatic rehabilitation clinic shows results in their symptom validation test that lack clear interpretability due to unlikely complaint representation? How can this group of patients be characterized? How effective is the psychosomatic rehabilitation treatment in patients who stand out by an unlikely response style? METHODS: Patients completed a questionnaire at the beginning and the end of their inpatient psychosomatic rehabilitation treatment. Questionnaire included socio-demographic information, Health49, SPE, DIAMO, FBTM and SIMS. Additionally, data from the discharge letter were considered. RESULTS: 24.6% of 329 patients showed conspicuous response behavior. Patients with conspicuous complaint representation were more likely to have an immigration background, rather belonged to the socio-economic underclass and more frequently showed a vulnerable gainful employment. There was no correlation between SIMS and the rehabilitation outcome. Patients with conspicuous response behavior and with high depression scores benefited significantly less from the inpatient treatment. Differences in the ability to work assessment were not found. CONCLUSION: Conspicuous response style is associated with high scores on the clinical symptom scales. About one quarter of patients in an inpatient psychosomatic rehabilitation clinic needs a more accurate diagnosis in order to reliably assess the clinical prognosis and the ability to work.


Assuntos
Transtornos Mentais/diagnóstico , Transtornos Mentais/reabilitação , Testes Neuropsicológicos/normas , Psicometria/métodos , Transtornos Psicofisiológicos/diagnóstico , Transtornos Psicofisiológicos/reabilitação , Adulto , Idoso , Idoso de 80 Anos ou mais , Comorbidade , Diagnóstico Diferencial , Feminino , Alemanha/epidemiologia , Humanos , Masculino , Transtornos Mentais/epidemiologia , Pessoa de Meia-Idade , Prevalência , Transtornos Psicofisiológicos/epidemiologia , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Resultado do Tratamento , Estudos de Validação como Assunto
7.
Rehabilitation (Stuttg) ; 51(5): 356-64, 2012 Oct.
Artigo em Alemão | MEDLINE | ID: mdl-23070890

RESUMO

OBJECTIVES: The aim of this study is to investigate differences in the occurrence of symptom over-reporting in insurants with and without migration background as well as to determine factors that predict the occurrence of symptom over-reporting. METHODS: A survey-based screening of validating complaints including Structured Inventory of Malingered Symptomatology (SIMS), L-scale (Minnesota Multiphasic Personality Inventory - MMPI-2), Health-49 and Predictive validity of a brief scale measuring the subjective prognosis of gainful employment (SPE-scale) was carried out with 457 German insurants and 138 insurants with migration background previous to their inpatient rehabilitation treatment. RESULTS: Symptom over-reporting measured by the SIMS could be observed in 33% of the German insurants and 50% of the insurants with migration background. Highest predictive power relative to symptom over-reporting was achieved by Health-49-score followed by social class and sex. CONCLUSIONS: Percentage of symptom over-reporting is higher in insurants with migration background than in German insurants, but taking into account more factors, differences in German and Non-German insurants can be largely explained by differences in social class and gender distribution. Studies applying multi-method symptom validation are required to clarify the causes of high prevalence of sympom over-reporting in German and Non-German insurants.


Assuntos
Testes Neuropsicológicos/normas , Psicometria/métodos , Transtornos Psicofisiológicos/diagnóstico , Transtornos Psicofisiológicos/reabilitação , Migrantes/estatística & dados numéricos , Adulto , Idoso , Idoso de 80 Anos ou mais , Comorbidade , Diagnóstico Diferencial , Feminino , Alemanha/epidemiologia , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Transtornos Psicofisiológicos/epidemiologia , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Resultado do Tratamento , Estudos de Validação como Assunto
8.
Artigo em Alemão | MEDLINE | ID: mdl-21465401

RESUMO

For successful reintegration into working life after inpatient medical and psychosomatic rehabilitation, it is necessary that treatment efforts prior to inpatient rehabilitation treatment, during the medical care itself, and after rehabilitation are distributed appropriately. Ideally, in addition to adequate psychotherapeutic treatment by established therapists/doctors, preparation for the upcoming rehabilitation should concentrate on helping patients lose their fear and also to shed light upon the objectives of a psychosomatic rehabilitation with special emphasis on vocational rehabilitation. Shortly after psychosomatic rehabilitation, aftercare supports, in particular, the transfer of the rehabilitation results and reintegration into working life. However, only a fraction of the patients are reached by this aftercare offer. For rehabilitation, patients with special job problems, migrants, or long-term unemployed persons, case management is proposed, should aftercare not be sufficient.


Assuntos
Assistência ao Convalescente/tendências , Assistência Ambulatorial/tendências , Previsões , Transtornos Psicofisiológicos/reabilitação , Medicina Psicossomática/tendências , Reabilitação/tendências , Alemanha , Humanos
9.
Artigo em Alemão | MEDLINE | ID: mdl-21465404

RESUMO

Treatment of patients with migration background in psychosomatic rehabilitation is gaining in importance. Cultural differences and increased barriers are considered the most important causes for the inferior effective treatment results in psychosomatic rehabilitation and a higher percentage of pensions due to impairment. We discuss perspectives in psychosomatic rehabilitation which not only focus on the migration background as the main cause for inferior effective treatment results, but place greater focus on typical barriers of this patient group. For this reason, the need for more integrative and adapted forms of psychosomatic rehabilitation becomes more evident. Psychosomatic rehabilitation can be adapted by introducing case management, psychosomatic aftercare, and outpatient information groups.


Assuntos
Assistência Ambulatorial/tendências , Previsões , Avaliação das Necessidades , Transtornos Psicofisiológicos/reabilitação , Medicina Psicossomática/tendências , Reabilitação/tendências , Alemanha , Humanos
10.
Psychol Health Med ; 15(1): 94-104, 2010 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-20391227

RESUMO

Outpatient psychotherapeutic aftercare (Curriculum Hannover) was introduced nationwide in 2000 by pension insurance. We present the results of the 5-year follow-up which are very rare in inpatient treatment. This study utilized a post-treatment design and compared two groups. The treatment group with 52 participants had concluded inpatient treatment and had started then outpatient psychotherapeutic aftercare. The 43 persons of the control group had gotten only the inpatient treatment. All participants answered the following questionnaires: Beck Anxiety Inventory (BAI), a German version of the Center for Epidemiological Studies Depression Scale (Allgemeine Depressionsskala [ADS]) and Complaint List. In addition, sociomedical aspects as dependence on insurance benefits, periods of disability, applications for rehabilitation, and percentage of retirement were collected. The participants of the treatment group were able to maintain or stabilize their mental health better than the participants of the control group. The participants' dependence on insurance benefits was also reduced (p < 0.1). Nevertheless, no significant differences arose between participants and the comparison group during the periods of paying into insurance. The results of this long-term follow-up study suggest patients receiving an aftercare treatment have better chance to support their state of health.


Assuntos
Pacientes Internados/psicologia , Pacientes Ambulatoriais/psicologia , Psicoterapia/organização & administração , Assistência ao Convalescente , Assistência Ambulatorial , Emprego , Feminino , Seguimentos , Inquéritos Epidemiológicos , Humanos , Cobertura do Seguro/estatística & dados numéricos , Masculino , Reabilitação , Aposentadoria , Licença Médica
11.
Rehabilitation (Stuttg) ; 48(5): 312-20, 2009 Oct.
Artigo em Alemão | MEDLINE | ID: mdl-19847728

RESUMO

BACKGROUND: Between 50 and 90% of patients in psychosomatic rehabilitation are affected by occupational problems and misdirected stress. The patients often find themselves in a vicious circle in which occupational problems lead to the development of mental illnesses before a background of lacking compensation possibilities and positive resources. Besides, mobbing can be understood as a special form of occupational stress, whereas in former studies, no differences in the magnitude of mental strain were discovered in comparison with rehabilitants who were in a psychosomatic remedial treatment. PURPOSE: Patients who are in psychosomatic remedial treatment and are norm-aberrantly limited in their occupational efficiency and patients who are affected by mobbing in the job show a higher psychosocial strain than other patients in treatment whose occupational efficiency is not limited. Do mobbing victims more frequently receive a recommendation that measures to strengthen their working life participation be considered? METHOD: A total of 189 patients were handed out a questionnaire at the beginning of their remedial treatment comprised of questions regarding their mobbing experiences, the IRES-3, the SCL-27, the Fatigue-Scale, the Incongruity questionnaire and the VDS-scale. The sample was split up into a group whose occupational efficiency was limited, a group affected by mobbing, and a group who had no efficiency limitations. RESULTS: 72.6% were clearly limited in their occupational efficiency. 27.4% felt neither affected in their occupational efficiency nor due to mobbing. 21% of the sample as a whole were affected by mobbing. Patients limited in their occupational efficiency differed neither from patients whose efficiency was unlimited, nor from those who were affected by mobbing. On the other hand, mobbing victims differed in all symptom scales evaluated from patients who had no occupational efficiency limitations. Also the scales on personality styles were substantially increased compared to this group. With mobbing victims it was recommended more often that the possibilities for working life participation measures should be checked. CONCLUSIONS: Patients in psychosomatic rehabilitation are strongly affected by occupational limitations and have a huge need for counselling and support. Therapy concepts should pick up the occupational problems at hand in a differentiated manner, with job-oriented linked-up rehabilitation being recommended. The increased mental strain of mobbing victims must always be borne in mind.


Assuntos
Transtornos Psicofisiológicos/diagnóstico , Transtornos Psicofisiológicos/reabilitação , Comportamento Social , Feminino , Alemanha/epidemiologia , Humanos , Masculino , Pessoa de Meia-Idade , Transtornos Psicofisiológicos/epidemiologia
12.
Rehabilitation (Stuttg) ; 46(1): 33-40, 2007 Feb.
Artigo em Alemão | MEDLINE | ID: mdl-17315132

RESUMO

OBJECTIVES: In earlier studies the lack of correlation between subjective need for rehabilitation of the applicant and the medically determined objective need for rehabilitation was reported again and again. The correlation between fatigue and subjective need for rehabilitation was not yet examined so far. Nevertheless fatigue is not defined sufficiently in the ICD, so interactions between chronic fatigue and somatic diseases are not taken into account appropriately. The following questions are considered: How high is the degree of chronic fatigue in insurees applying for rehabilitation? Is there a correlation between degree of fatigue and need for rehabilitation? Is it possible to predict approval of medical rehabilitation by fatigue and need for rehabilitation? How will insurees accept a screening accompanying their application for rehabilitation? METHOD: The study is based on data of 500 (response rate 85.6%) insurees of the pension insurance Braunschweig-Hannover, who had applied for medical rehabilitation between 1/2004 and 3/2004. The screening instrument included: scales on functional activity, mobility, social support, coping (IRES), the Chalder Fatigue Scale, SCL 14, Items concerning need for rehabilitation. As statistical methods t-, chi (2)-test, correlations, covariance-analysis and regression analysis are used. RESULTS: 70.2% of the patients claiming rehabilitation reported relevant clinical symptoms of chronic fatigue. There were no differences in age, work status, motivation, or expectations of returning to work, but differences in sex. Patients with chronic fatigue met more citeria of need for rehabilitation. But the approval of medical rehabilitation could not be predicted by fatigue and need for rehabilitation. Nevertheless the acceptance of the screening was high in the insurees. CONCLUSIONS: Patients with chronic fatigue met more criteria of need for rehabilitation. But the approval of medical rehabilitation could not be predicted by fatigue and need for rehabilitation. We assume that the reduction of activity and participation is associated with the degree of fatigue. It is discussed that the information an investigator may derive from a screening which is accepted by the insurees claiming medical rehabilitation will complete the collected clinical documents in a meaningful manner.


Assuntos
Avaliação da Deficiência , Definição da Elegibilidade/legislação & jurisprudência , Síndrome de Fadiga Crônica/reabilitação , Programas de Rastreamento/estatística & dados numéricos , Avaliação das Necessidades/estatística & dados numéricos , Reabilitação Vocacional/estatística & dados numéricos , Inquéritos e Questionários , Adulto , Análise de Variância , Síndrome de Fadiga Crônica/diagnóstico , Feminino , Alemanha , Humanos , Masculino , Pessoa de Meia-Idade , Previdência Social/legislação & jurisprudência , Estatística como Assunto
13.
Res Vet Sci ; 75(2): 157-61, 2003 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-12893165

RESUMO

The main advantage of collecting saliva cortisol as opposed to plasma cortisol is that it is non-invasive and therefore it is now widely used in stress measurement studies on farm animals and dogs. Although a plasma cortisol response to handling associated with blood collection generally occurs at 3 min from the commencement of handling, there is no information in the literature on the time course of the response of salivary cortisol concentration to handling. The aims of these experiments were to (1). determine if there is a response to up to 4 min handling that affects cortisol concentration in saliva and (2). determine the main causes of variation in saliva cortisol in dogs over time. In experiment 1, saliva was collected from six Kelpies at 0 min then 2, 3 or 4 min after the commencement of restraint. There was no handling effect found in up to 4 min sampling time. In experiment 2, saliva was collected from six Labrador Retrievers five times in 2 h (14:00-16:00), three days a week for four weeks. Some of the sources of variation in saliva cortisol over time included between dog variation that varied over a period of days and variation between occasions that affected the group of dogs as a whole.


Assuntos
Hidrocortisona/análise , Saliva/química , Manejo de Espécimes/veterinária , Animais , Cães , Feminino , Masculino , Variações Dependentes do Observador , Reprodutibilidade dos Testes , Manejo de Espécimes/métodos , Fatores de Tempo
15.
Psychother Psychosom Med Psychol ; 49(9-10): 387-91, 1999.
Artigo em Alemão | MEDLINE | ID: mdl-10574007

RESUMO

Attention has been repeatedly drawn to the necessity to support patients after psychosomatic rehabilitation with their transfer of skills acquired during their stay at the interface between their inpatient treatment and their reintegration into everyday life. The authors' concept of the outpatient aftercare was already introduced in an earlier paper. This article presents the results of the one-year follow-up. A comparison with a control group revealed a further reduction of patients' depression. In contrast to the control group, the reduction in fear and discomfort already achieved during inpatient rehabilitation remained stable. At the same time the ability to cope with everyday life was expanded. Compared with the control group the participants of the aftercare could reduce the absence from work, days spent in hospital and visits to the doctor more than twice as much. Methodological problems of the design of the study are critically discussed.


Assuntos
Assistência ao Convalescente/métodos , Transtornos Psicofisiológicos/reabilitação , Absenteísmo , Assistência ao Convalescente/economia , Assistência ao Convalescente/estatística & dados numéricos , Assistência Ambulatorial , Estudos de Casos e Controles , Feminino , Seguimentos , Alemanha , Custos de Cuidados de Saúde , Humanos , Tempo de Internação , Masculino , Pessoa de Meia-Idade , Escalas de Graduação Psiquiátrica , Transtornos Psicofisiológicos/economia , Psicoterapia de Grupo , Resultado do Tratamento
16.
Am J Med Genet ; 82(5): 429-35, 1999 Feb 19.
Artigo em Inglês | MEDLINE | ID: mdl-10069716

RESUMO

Oculo-facio-cardio-dental syndrome is a very rare condition. So far, only nine cases have been documented. We report on three additional female patients representing the same entity. The clinical findings were: congenital cataract, microphthalmia/microcornea, secondary glaucoma, vision impairment, ptosis, long narrow face, high nasal bridge, broad nasal tip with separated cartilages, long philtrum, cleft palate, atrial septal defect, ventricular septal defect, and skeletal anomalies. The following dental abnormalities were found: radiculomegaly, delayed dentition, oligodontia, root dilacerations (extension), and malocclusion. For the first time, fusion of teeth and hyperdontia of permanent upper teeth were seen. In addition, structural and morphological dental changes were noted. These findings expand the clinical spectrum of the syndrome.


Assuntos
Face/anormalidades , Cardiopatias Congênitas/genética , Anormalidades Dentárias/genética , Adolescente , Adulto , Anormalidades do Olho/genética , Feminino , Glaucoma/genética , Humanos , Fenótipo , Radiografia Panorâmica , Síndrome
17.
Nervenarzt ; 69(9): 776-81, 1998 Sep.
Artigo em Alemão | MEDLINE | ID: mdl-9789269

RESUMO

The result of an investigation of 128 from 283 (45.2%) medical and psychological psychotherapists established in the city of Hannover is presented. The aim of the study is to characterize the situation of psychotherapeutical care not only by the number of psychotherapists in relation to inhabitants but also by the working time spent for psychotherapy. Besides we found gender, school of psychotherapy and professional experience as factor influencing the patients waiting time for beginning a psychotherapy. In contrast to other studies, the number of medical and psychological psychotherapists is not different, nevertheless the psychotherapeutical care in Hannover is not ensured.


Assuntos
Equipe de Assistência ao Paciente/estatística & dados numéricos , Psiquiatria , Psicoterapia , Adolescente , Adulto , Idoso , Criança , Competência Clínica/estatística & dados numéricos , Feminino , Alemanha/epidemiologia , Acessibilidade aos Serviços de Saúde/estatística & dados numéricos , Humanos , Masculino , Pessoa de Meia-Idade , Psicoterapia/educação , Fatores Sexuais , Especialização/estatística & dados numéricos , Saúde da População Urbana , Listas de Espera , Recursos Humanos
18.
Hum Mol Genet ; 6(1): 91-8, 1997 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-9002675

RESUMO

It has previously been shown that, in the heterozygous state, mutations in the SOX9 gene cause campomelic dysplasia (CD) and the often associated autosomal XY sex reversal. In 12 CD patients, 10 novel mutations and one recurrent mutation were characterized in one SOX9 allele each, and in one case, no mutation was found. Four missense mutations are all located within the high mobility group (HMG) domain. They either reduce or abolish the DNA-binding ability of the mutant SOX9 proteins. Among the five nonsense and three frameshift mutations identified, two leave the C-terminal transactivation (TA) domain encompassing residues 402-509 of SOX9 partly or almost completely intact. When tested in cell transfection experiments, the recurrent nonsense mutation Y440X, found in two patients who survived for four and more than 9 years, respectively, exhibits some residual transactivation ability. In contrast, a frameshift mutation extending the protein by 70 residues at codon 507, found in a patient who died shortly after birth, showed no transactivation. This is apparently due to instability of the mutant SOX9 protein as demonstrated by Western blotting. Amino acid substitutions and nonsense mutations are found in patients with and without XY sex reversal, indicating that sex reversal in CD is subject to variable penetrance. Finally, none of 18 female patients with XY gonadal dysgenesis (Swyer syndrome) showed an altered SOX9 banding pattern in SSCP assays, providing evidence that SOX9 mutations do not usually result in XY sex reversal without skeletal malformations.


Assuntos
Análise Mutacional de DNA , Transtornos do Desenvolvimento Sexual , Proteínas de Grupo de Alta Mobilidade/genética , Osteocondrodisplasias/genética , Análise para Determinação do Sexo , Fatores de Transcrição/genética , Criança , Pré-Escolar , Feminino , Genes , Genótipo , Disgenesia Gonadal 46 XY/genética , Humanos , Lactente , Recém-Nascido , Masculino , Fenótipo , Recidiva , Fatores de Transcrição SOX9 , Ativação Transcricional
19.
Am J Med Genet ; 65(1): 56-9, 1996 Oct 02.
Artigo em Inglês | MEDLINE | ID: mdl-8914742

RESUMO

Karyotypes with an interstitial deletion and a marker chromosome formed from the deleted segment are rare. We identified such a rearrangement in a newborn infant, who presented with macrocephaly, asymmetric square skull, minor facial anomalies, omphalocele, inguinal hernias, hypospadias, and club feet. The karyotype 46,XY,del(5) (pter --> p13::cen --> qter)/47,XY,+dicr(5)(:p13 --> cen::p13 --> cen), del(5)(pter --> p13::cen --> qter) was identified by banding studies and FISH analysis in the peripheral lymphocytes. One breakpoint on the del(5) maps distal to GDNF, and FISH analysis using an alpha-satellite probe suggests that the proximal breakpoint maps within the centromere. The dicentric r(5) consists of two copies of the segment deleted in the del(5), resulting in trisomy of proximal 5p (5p13-cen). The phenotype of the propositus is compared with other trisomy 5p cases and possible mechanisms for the generation of this unique chromosomal rearrangement are discussed.


Assuntos
Anormalidades Múltiplas/genética , Deleção Cromossômica , Cromossomos Humanos Par 5 , Cromossomos em Anel , Trissomia , Humanos , Hibridização in Situ Fluorescente , Recém-Nascido , Masculino
20.
Eur J Biochem ; 170(1-2): 459-67, 1987 Dec 30.
Artigo em Inglês | MEDLINE | ID: mdl-3691535

RESUMO

Coenzyme F430 is a hydroporphinoid nickel complex present in all methanogenic bacteria. It is part of the enzyme system which catalyzes methane formation from methyl-coenzyme M. We describe here that under certain conditions a second nickel porphinoid accumulates in methanogenic bacteria. The compound was identified at 15,17(3)-seco-F430-17(3)-acid. The structural assignment rests on 14C-labelling experiments, fast-atom-bombardment mass spectra, 1H-NMR spectra of the corresponding hexamethyl ester, and ultraviolet/visible spectral comparison with model compounds. In cell extracts and in intact cells of methanogenic bacteria, 15,17(3)-seco-F430-17(3)-acid was converted to F430. These findings indicate that the new nickel-containing porphinoid is an intermediate in the biosynthesis of coenzyme F430.


Assuntos
Coenzimas/biossíntese , Euryarchaeota/metabolismo , Metaloporfirinas , Metaloproteínas/biossíntese , Níquel/biossíntese , Níquel/metabolismo , Euryarchaeota/crescimento & desenvolvimento , Espectroscopia de Ressonância Magnética , Metaloproteínas/isolamento & purificação , Níquel/isolamento & purificação , Especificidade da Espécie , Espectrofotometria
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