RESUMEN
PURPOSE: To assess rate of late presentation with HIV in Southwestern Germany and to identify patient characteristics correlated with CD4 nadir. METHODS: Patients with primary diagnosis who presented to one of ten participating clinics rated on knowledge and behavior towards HIV testing on a self-developed questionnaire, whereas clinical data was assessed by the physician. RESULTS: 161 patients were included. Risk factors were homosexual (59.5 %) or heterosexual contacts (26.8 %), drug use (2.0 %), migration (3.9 %), or others (7.8 %). 63.5 % had a CD4 T cell count < 350/µl. 52.5, 17.4, and 31.1 % were diagnosed in CDC stadium A, B or C, respectively. 209 disease episodes were reported, from whom 83.7 % had led to the diagnosis of HIV. 75.2 and 68.3 % said to have been well-informed about ways of transmission and testing offerings, respectively, and 20.4 % admitted to have psychologically repressed the possibility of being infected. 48 patients rated their personal behavioral risk as "high" or "very high". Of these, however, only ten had performed at test in the precedent year. Performing a regression analysis, younger age and previous testing were correlated with a higher CD4 T cell nadir (p = 0.005, and 0.018, resp.). CONCLUSION: The rate of late presentation in this region was even higher compared to national or European surveys. Most infected patients perceived to have had only a low risk. Several disease episodes did not lead to the initiation of HIV testing by the physician.
Asunto(s)
Diagnóstico Tardío , Infecciones por VIH/diagnóstico , Infecciones por VIH/epidemiología , Conocimientos, Actitudes y Práctica en Salud , Competencia Profesional , Adulto , Femenino , Alemania/epidemiología , Humanos , Masculino , Persona de Mediana Edad , Pacientes , MédicosRESUMEN
Preclinical studies suggested that combination of naltrexone and isradipine may be useful for the treatment of cocaine addiction. This study examined whether naltrexone and isradipine, alone or in combination, would attenuate the subjective and physiological effects of cocaine in humans. Seven cocaine users participated in a randomized, double-blind, placebo-controlled inpatient study. Before each of the seven experimental sessions, subjects were treated orally with naltrexone (50 mg or placebo), isradipine (10 mg or placebo), or naltrexone plus isradipine. Subjects then received a single dose of intranasal cocaine (4 mg or 100 mg/70 kg). Isradipine alone attenuated the systolic blood pressure response to cocaine. In contrast, isradipine plus naltrexone treatment attenuated both the systolic and diastolic blood pressure responses. Naltrexone alone did not affect the blood pressure response to cocaine. For subjective response to cocaine, isradipine, alone or in combination with naltrexone, did not have significant effects. Naltrexone treatment alone attenuated the rating of "good effects" from cocaine without affecting other subjective responses. These results suggest that isradipine alone or in combination with naltrexone attenuates some of the physiological effects of cocaine.
Asunto(s)
Conducta Adictiva/tratamiento farmacológico , Trastornos Relacionados con Cocaína/tratamiento farmacológico , Isradipino/administración & dosificación , Naltrexona/administración & dosificación , Adulto , Área Bajo la Curva , Conducta Adictiva/sangre , Conducta Adictiva/psicología , Presión Sanguínea/efectos de los fármacos , Presión Sanguínea/fisiología , Trastornos Relacionados con Cocaína/sangre , Trastornos Relacionados con Cocaína/psicología , Método Doble Ciego , Quimioterapia Combinada , Femenino , Frecuencia Cardíaca/efectos de los fármacos , Frecuencia Cardíaca/fisiología , Humanos , MasculinoRESUMEN
Disease specific systems usually offer excellent functionality for the management of the covered diseases. But the restriction to a certain disease also often hampers their wide spread use since they aren't optimised for clinical workflow. The Giessener Tumordokumentationssystem (GTDS) is such a disease specific system. It is not only designed for the use in tumour registries but also to support clinical care. In order to integrate it into hospital information systems, we implemented standard communication interfaces, but this measure is not sufficient since it doesn't consider aspects of the normal workflow of a clinical user. Therefore, we developed a strategy that should ease the access to the system in the environment of existing systems. From the technical point of view, XML with its capabilities to represent even complex data in a rather simple way helped to implement this strategy. We use it to communicate with API-like services and also created a WWW environment to demonstrate the access to these services. Since this environment itself is a means to integrate systems, we intend to expand this environment to an appropriate region based means to improve the communication with registries. multidisciplinary environments [3]. The large amount of useful functions and its adaptability has made GTDS (http://www.gtds.de) a successful system in more than 30 various registries.
Asunto(s)
Redes de Comunicación de Computadores/normas , Neoplasias , Lenguajes de Programación , Sistema de Registros , Integración de Sistemas , Sistemas de Información en Hospital , Humanos , Internet , Sistemas de Registros Médicos ComputarizadosRESUMEN
The ssDNA-dependent NTP hydrolysis activity of the RecA protein was examined using a series of dTn oligomers ranging in size from dT10 to dT2000 as the ssDNA effector. There were three distinct manifestations of the dTn-dependent NTP hydrolysis reaction, depending on the length of the dTn effector that was used. With longer dTn oligomers, NTP hydrolysis occurred with a turnover number of 20-25 min(-1) and the observed S0.5 value for the NTP was independent of the concentration of the dTn oligomer (DNA concentration-independent hydrolysis). With dTn oligomers of intermediate length, NTP hydrolysis still occurred with a turnover number of 20-25 min(-1), but the observed S0.5 for the NTP decreased with increasing dTn concentration until reaching a value similar to that obtained with the longer dTn oligomers (DNA concentration-dependent hydrolysis). With shorter dTn oligomers, the NTP hydrolysis activity was effectively eliminated. Although this general progression of kinetic behavior was observed for the three structurally related NTPs (dATP, ATP, and GTP), the dTn oligomer length at which DNA concentration-independent, DNA concentration-dependent, and no NTP hydrolysis was observed depended on the NTP being considered. For example, dATP (S0.5 = 35 microM) was hydrolyzed in the presence of dT20, whereas ATP (S0.5 = 70 microM) and GTP (S0.5 = 1200 microM) required at least dT50 and dT200 for hydrolysis, respectively. These results are discussed in terms of a kinetic model in which the stability of the RecA-ssDNA-NTP complex is dependent on the intrinsic S0.5 value of the NTP being hydrolyzed.
Asunto(s)
ADN de Cadena Simple/metabolismo , Nucleótidos/metabolismo , Rec A Recombinasas/metabolismo , Adenosina Trifosfato/metabolismo , Guanosina Trifosfato/metabolismo , Hidrólisis , Cinética , Modelos Químicos , Unión ProteicaRESUMEN
The molecular basis of segmentation and regional growth during morphogenesis of Drosophila legs is poorly understood. We show that four-jointed is not only required for these processes, but also can direct ectopic growth and joint initiation when its normal pattern of expression is disturbed. These effects are non-autonomous, consistent with our demonstration of both transmembrane and secreted forms of the protein in vivo. The similarities between four-jointed and Notch phenotypes led us to further investigate the relationships between these pathways. Surprisingly, we find that although four-jointed expression is regulated downstream of Notch activation, four-jointed can induce expression of the Notch ligands, Serrate and Delta, and may thereby participate in a feedback loop with the Notch signaling pathway. We also show that four-jointed interacts with abelson, enabled and dachs, which leads us to suggest that one target of four-jointed signaling is the actin cytoskeleton. Thus, four-jointed may bridge the gap between the signals that direct morphogenesis and those that carry it out.
Asunto(s)
Tipificación del Cuerpo , Proteínas de Drosophila , Drosophila melanogaster/crecimiento & desarrollo , Extremidades/crecimiento & desarrollo , Proteínas de Insectos/metabolismo , Articulaciones/crecimiento & desarrollo , Glicoproteínas de Membrana/metabolismo , Animales , Proteínas de Unión al Calcio , Proteínas de Unión al ADN/metabolismo , Drosophila melanogaster/genética , Retroalimentación , Péptidos y Proteínas de Señalización Intercelular , Péptidos y Proteínas de Señalización Intracelular , Proteína Jagged-1 , Proteínas de la Membrana/metabolismo , Proteínas Nucleares/metabolismo , Receptores Notch , Proteínas Serrate-Jagged , Transducción de SeñalRESUMEN
The effects of cocaine were examined prior to and during bupropion maintenance in nonopioid-dependent cocaine abusers. Prior to bupropion maintenance, subjects underwent an experimental session during which repeated cocaine doses (0, 50, 100 mg/70 kg) were administered intranasally. Then subjects were maintained on bupropion (150 and 300 mg per day) and underwent experimental sessions as before. Cocaine, regardless of bupropion, produced dose-related increases in several stimulant-like self-reports, performance and cardiovascular measures. Bupropion decreased POMS ratings of friendliness and vigor, regardless of cocaine dose. Bupropion enhanced and attenuated cocaine-induced increases in ratings on the LSD and BG subscales of the ARCI, respectively. These results suggest that bupropion does not alter the acute subjective or cardiovascular effects of cocaine in a robust manner.
Asunto(s)
Bupropión/administración & dosificación , Trastornos Relacionados con Cocaína/rehabilitación , Cocaína/administración & dosificación , Administración Intranasal , Adulto , Afecto/efectos de los fármacos , Nivel de Alerta/efectos de los fármacos , Bupropión/efectos adversos , Cocaína/efectos adversos , Cocaína/farmacocinética , Trastornos Relacionados con Cocaína/sangre , Relación Dosis-Respuesta a Droga , Femenino , Humanos , Masculino , Premedicación , Método Simple CiegoRESUMEN
Developing a compliance plan for a small physician practice can be easier than you'd think. The author offers six things HIM professionals can do to ensure a practice's compliance.
Asunto(s)
Auditoría Financiera , Adhesión a Directriz/organización & administración , Formulario de Reclamación de Seguro/clasificación , Auditoría Administrativa , Registros Médicos/clasificación , Administración de la Práctica Médica/normas , Documentación/normas , Educación Continua , Fraude/prevención & control , Guías como Asunto , Humanos , Capacitación en Servicio , Política Organizacional , Administración de la Práctica Médica/economía , Desarrollo de Programa , Tiempo , Estados UnidosRESUMEN
In the 1990ies, an oncology data network has been set up mainly in the New States of Germany. Although not formally planned and established as a whole, it consists of a number of initiatives, that co-operate well and gain added value from this co-operation. From the technological view, the centre of the network is the Giessener Tumordokumentationssystem (GTDS), that was developed at Giessen University. We present important basic conditions in which this development took place, show some results and describe future directions of the development.
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Redes de Comunicación de Computadores , Bases de Datos Factuales , Neoplasias/epidemiología , Sistema de Registros/estadística & datos numéricos , Recolección de Datos/estadística & datos numéricos , Eficiencia , Alemania , HumanosRESUMEN
The background of the presented work is the design, realization, and routine use of integrated knowledge-based functions in the context of a hospital cancer registry. The first field of application was supporting registrars to detect data inconsistencies and incompleteness timely during the documentation process. Especially, we focused on the acceptance of the administrator of the underlying information system and on the phenomenon of duplicate and outdated messages. These aspects are specific for integrated knowledge based functions and a precondition for obtaining a routine applicability and acceptance.
Asunto(s)
Inteligencia Artificial , Neoplasias , Sistema de Registros , Programas Informáticos , Alemania , Hospitales , Humanos , Lenguajes de ProgramaciónRESUMEN
Childhood leukaemia presenting at a young age has been suspected of resulting from a leukaemogenic mutation in parental germ cells, either spontaneously or due to the exposure of a parent to leukaemogenic environmental hazards, particularly ionizing radiation. Mathematical modelling of leukaemogenesis suggests that any such patient would be especially prone to multiple independent leukaemogenic events leading to multiclonality in terms of cell of origin (analogous to bilaterality in familial retinoblastoma). To test this hypothesis we have carried out a search for multiclonal leukaemogenesis in infant and childhood acute lymphoblastic leukaemia (ALL). We used a polymerase chain reaction-based analysis of the X-linked monoamine oxidase A (MAOA) gene locus to study the clonality of marrow samples obtained from female paediatric ALL patients at the time of disease presentation. We obtained presentation samples from 102 patients of whom 72 were found to be informative at the MAOA locus. These included 20 infant leukaemias (< 1 year at diagnosis). Sixty-six samples were found to be unequivocally monoclonal while the remaining six could not, with certainty, be assigned a clonal origin. We also obtained bone marrow aspirates at first relapse as well as at presentation from eight patients. In each case the same pattern of X-linked allelic inactivation was observed at both time points of the course of the disease. No evidence was found for leukaemic multiclonality in any age group at presentation or for leukaemic 'clone-switching' in relapse. These findings suggest that both infant and childhood ALL is of single-cell origin and implies that leukaemic predisposition resulting from germ cell mutation is unlikely to have a major role in their pathogenesis.
Asunto(s)
Mutación de Línea Germinal , Padres , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/patología , Adolescente , Adulto , Alelos , Niño , Preescolar , Células Clonales , ADN de Neoplasias/genética , Compensación de Dosificación (Genética) , Femenino , Heterocigoto , Humanos , Lactante , Masculino , Monoaminooxidasa/genética , Reacción en Cadena de la Polimerasa/métodos , Cromosoma XRESUMEN
In oncology various international and national standards exist for different aspects of a disease. These standards, maintained by different organisations, have multiple relationships with each other. A common data dictionary like UMLS would facilitate the reorganisation of such relationships when a new version of a standard is published. While the modelling of relationships usually is restricted to types having a relevant frequency, there are often relationships which are expressed in texts like definitions or explanations. Such texts are a very important supplement for the acceptance and the safe use of coding systems, but often are neglected when implementing coding systems in computerised systems, because they are costly to implement. This paper discusses potentials when integrating various sources in a common, database based dictionary enhanced by XML (Extensible Markup Language) techniques.
Asunto(s)
Bases de Datos como Asunto/normas , Documentación/normas , Neoplasias/clasificación , Unified Medical Language System , Humanos , Computación en Informática Médica/normas , Sistema de Registros/normasRESUMEN
Wiskott-Aldrich syndrome (WAS) is an X-linked primary immunodeficiency that is usually associated with thrombocytopenia and eczema. The very variable phenotype of WAS results from defects in the WAS protein (WASP), the function of which is not well understood. In many cases causative mutations have now been identified in the WAS gene. Attempts have been made to correlate the nature of the mutations with the severity of the disease. In this study we investigated mutations in 13 patients with WAS and analyzed the expression of WASP in patient blood samples by immunoblot analysis. We found that despite extensive variation in the nature of the mutations in patients with severe WAS symptoms, none express the protein. However, in 1 patient with a mild clinical phenotype WASP expression was detected. Such an analysis could be used as an initial screening procedure for the diagnosis of WAS prior to genotypic analysis.
Asunto(s)
Proteínas/metabolismo , Síndrome de Wiskott-Aldrich/sangre , Secuencia de Bases , Estudios de Casos y Controles , Línea Celular Transformada , Análisis Mutacional de ADN , Cartilla de ADN/genética , Expresión Génica , Variación Genética , Humanos , Immunoblotting , Masculino , Mutación , Fenotipo , Reacción en Cadena de la Polimerasa , Polimorfismo Conformacional Retorcido-Simple , Proteínas/genética , Síndrome de Wiskott-Aldrich/diagnóstico , Síndrome de Wiskott-Aldrich/genética , Proteína del Síndrome de Wiskott-AldrichRESUMEN
Severe combined immunodeficiency (SCID) is caused by a variety of underlying defects. Approximately 40% of cases are thought to be of the X-linked type (SCIDX1), which is phenotypically characterised by the absence, or very low numbers, of T cells, but normal or even high B cell numbers. The gene responsible for SCIDX1 is that coding for the common gamma chain (gamma c), a component of multiple cytokine receptors. Mutations in this gene have been demonstrated in a large number of boys affected by typical SCIDX1. We describe a sporadic case of a boy who had SCID with absent B cells and absent T cells, but in whom a mutation in the gamma c gene has been demonstrated. In the absence of a typical X-linked pedigree, the phenotype in this boy suggested an autosomal recessive form of SCID and the family would usually have been counselled accordingly. This family raises the question of the true frequency of SCIDX1 amongst sporadic male cases of SCID and highlights the need to screen these boys for gamma chain mutations.
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Linfocitos B/inmunología , Mutación Puntual , Receptores de Citocinas/genética , Receptores de Interleucina-2/genética , Inmunodeficiencia Combinada Grave/genética , Cromosoma X , Antígenos CD/inmunología , ADN/sangre , Exones , Humanos , Lactante , Masculino , Fenotipo , Polimorfismo Conformacional Retorcido-Simple , Inmunodeficiencia Combinada Grave/inmunología , Linfocitos T/inmunologíaAsunto(s)
Culicidae , Insectos Vectores , Malaria/historia , Parasitología/historia , África , Animales , Asia , Vectores de Enfermedades , Historia del Siglo XIX , Historia del Siglo XX , Humanos , Reino UnidoRESUMEN
BACKGROUND: CADU/CIS (Clinical and Administrative Decision-support Utility and Clinical Information System) is a clinical decision-support workstation that allows large volumes of clinical information systems data to be analyzed in a timely and user-friendly fashion. CARE PROCESS MEASUREMENT: For any given disease, subgroups of patients are identified, and automated, customized "clinical pathways" are generated. For each subgroup, the best practice norms for use of test and therapies are identified. Practice style variations are then compared to outcomes to focus inquiry on decisions that significantly affect outcomes. CASE STUDY: INTESTINAL OBSTRUCTION: Graduate Health Systems, a multisite integrated provider in the Philadelphia area, has used CADU/CIS to improve quality problems, reduce treatment-intensity variations, and improve clinical participation in care process evaluation and decision making. A task force selected intestinal obstruction without hernia as its first study because of the related high-volume and high-morbidity complications. Use of a ten-step method for clinical performance improvement showed that the intravenous administration of unnecessary fluids to 104 patients with intestinal obstruction induced congestive heart failure (CHF) in 5 patients. Task force members and other practicing physicians are now developing guidelines and other interventions aimed at fluid use. Indeed, the task force used CADU/CIS to identify an additional 250 patients in one year whose conditions were complicated by CHF. CONCLUSION: A clinical decision support tool can be instrumental in detecting problems with important clinical and economic implications, identifying their important underlying causes, tracking the associated tests and therapies, and monitoring interventions.
Asunto(s)
Toma de Decisiones Asistida por Computador , Sistemas de Información en Hospital , Hospitales Universitarios/normas , Evaluación de Procesos, Atención de Salud , Integración de Sistemas , Anciano , Anciano de 80 o más Años , Catéteres de Permanencia/efectos adversos , Redes de Comunicación de Computadores , Control de Costos , Vías Clínicas , Recolección de Datos , Diagnóstico por Computador , Estudios de Evaluación como Asunto , Femenino , Investigación sobre Servicios de Salud , Hospitales Universitarios/organización & administración , Humanos , Infecciones/terapia , Servicios de Información , Philadelphia , Medición de Riesgo , Terapia Asistida por Computador , Estados UnidosRESUMEN
A male child presented with recurrent respiratory infections, otitis media, and oral ulceration and was found to be neutropenic. Investigations showed hypogammaglobulinaemia with normal serum IgM and a novel deletion in the gene for CD40 ligand on his X chromosome. Intravenous gammaglobulin did not lead to resolution of his neutropenia; G-CSF was also necessary.
Asunto(s)
Agammaglobulinemia/complicaciones , Antígenos CD40 , Neutropenia/etiología , Agammaglobulinemia/genética , Agammaglobulinemia/inmunología , Antígenos CD40/genética , Eliminación de Gen , Humanos , Inmunoglobulina M/sangre , Lactante , Masculino , Neutropenia/genética , Neutropenia/inmunología , Infecciones Oportunistas/etiología , Infecciones Oportunistas/genética , Infecciones Oportunistas/inmunologíaRESUMEN
The t(7;11)(p15;p15) translocation is a recurrent chromosomal abnormality associated primarily with acute myeloid leukaemia (FAB M2 and M4). We present here the molecular definition of this translocation. On chromosome 7 positional cloning revealed the consistent rearrangement of the HOXA9 gene, which encodes a class I homeodomain protein potentially involved in myeloid differentiation. On chromosome 11 the translocation targets the human homologue of NUP98, a member of the GLFG nucleoporin family. Chimaeric messages spliced over the breakpoint fuse the GLFG repeat domains of NUP98 in-frame to the HOXA9 homeobox. The predicted NUP98-HOXA9 fusion protein may promote leukaemogenesis through inhibition of HOXA9-mediated terminal differentiation and/or aberrant nucleocytoplasmic transport.
Asunto(s)
Cromosomas Humanos Par 11 , Cromosomas Humanos Par 7 , Proteínas de Homeodominio/genética , Leucemia Mielomonocítica Aguda/genética , Proteínas de la Membrana/genética , Proteínas de Complejo Poro Nuclear , Proteínas Nucleares/genética , Translocación Genética , Secuencia de Aminoácidos , Secuencia de Bases , Mapeo Cromosómico , Clonación Molecular , Proteínas de Homeodominio/fisiología , Humanos , Datos de Secuencia Molecular , ARN Mensajero/genética , ARN Neoplásico/genética , Secuencias Repetitivas de Ácidos Nucleicos/genética , Análisis de Secuencia de ADNRESUMEN
Mutations in the gene encoding CD40 ligand have been shown to be the cause of X-linked hypogammaglobulinemia with hyper IgM (HIGM1). We have used the technique of single strand conformational polymorphism (SSCP) analysis to screen for mutations in this gene in affected boys from nineteen unrelated families. Sixteen novel mutations were identified in patients, comprising six patients with single base substitutions, two patients with single base insertions, six patients with deletions ranging from one to seven bases and two patients with large deletions at the 5' end of the gene. These mutations were distributed throughout the gene SSCP band shifts and/or alterations in restriction enzyme digestion sites could be used for unambiguous determination of carrier status in at-risk female relatives of most of the affected boys and, in some cases, prenatal diagnosis also can be offered.
Asunto(s)
Agammaglobulinemia/genética , Inmunoglobulina M , Síndromes de Inmunodeficiencia/genética , Glicoproteínas de Membrana/deficiencia , Glicoproteínas de Membrana/genética , Mutación , Cromosoma X , Agammaglobulinemia/inmunología , Antígenos CD40/metabolismo , Ligando de CD40 , Niño , Análisis Mutacional de ADN , Exones , Femenino , Mutación del Sistema de Lectura , Tamización de Portadores Genéticos , Humanos , Síndromes de Inmunodeficiencia/inmunología , Masculino , Núcleo Familiar , Linaje , Mutación Puntual , Polimorfismo Conformacional Retorcido-Simple , Eliminación de SecuenciaRESUMEN
German hospital tumor registries play an active role in the treatment of cancer patients. Besides the documentation of the course of a disease, they directly support medical treatment and follow-up care over a long period. As the treatment of oncologic patients is a shared multidisciplinary task, the availability of information is one of the most valuable outputs. Therefore, the documentation has to be integrated into the medical treatment, which only can be achieved when useful services are based on it. Since 1983 the basis of the documentation has been a uniform basic data set which was revised in 1990 and, according to be requirements mentioned above, allows detailed documentation, especially of therapy. During the last four years a new documentation system for tumor diseases has been developed and was implemented in 30 hospital tumor registries by the "Arbeitsgruppe zur Koordination Klinischer Krebsregister". The so-called "Giessener Tumordokumentationssystem" (GTDS) is the basis of the work in those registries. In this paper the functions and services which were implemented in order to support the individual treatment of oncologic patients and the methods of collecting and delivering that information to the physician are presented.