RESUMEN
This study was conducted to evaluate the significance of preoperative serum sialic acid levels in the diagnosis and prognosis of colorectal cancer (CRC). Total sialic acid (TSA) was determined by the thiobarbituric acid method and normalized to total protein (TP). A postoperative follow-up of CRC patients classified as Dukes' stages A, B or C was performed and survival analysis was carried out to evaluate the impact of sialic acid levels on tumor recurrence. Our diagnostic studies indicate that TSA/TP is a better marker than either TSA or carcinoembryonic antigen (CEA), especially for the detection of CRC patients at an early stage. At a cutoff of 30.90 nmol/mg of protein, TSA/TP showed a sensitivity of 85% with a specificity of 97% to discriminate CRC patients from healthy donors. In survival analysis, both TSA and TSA/TP were found to be significant prognostic factors for tumor recurrence in CRC. Furthermore, TSA/TP could distinguish patients at high risk of recurrence within Dukes' stage B and in multivariate analysis it was identified as the best independent prognostic factor. According to our results, preoperative serum TSA/TP content could supply additional information to that provided by Dukes' stage about the prognosis of CRC patients.
Asunto(s)
Biomarcadores de Tumor/sangre , Neoplasias Colorrectales/sangre , Ácido N-Acetilneuramínico/sangre , Neoplasias/sangre , Adulto , Anciano , Anciano de 80 o más Años , Antígeno Carcinoembrionario/sangre , Estudios de Casos y Controles , Neoplasias Colorrectales/diagnóstico , Neoplasias Colorrectales/patología , Supervivencia sin Enfermedad , Femenino , Humanos , Masculino , Persona de Mediana Edad , Análisis Multivariante , Pronóstico , Modelos de Riesgos Proporcionales , Recurrencia , Sensibilidad y Especificidad , Sustancias Reactivas al Ácido Tiobarbitúrico , Factores de TiempoRESUMEN
INTRODUCTION: Developing recommendations about consultation times in neurology helps plan the endowment of human resources and can contribute to homogenize and improve quality of health-care. OBJECTIVES: To elaborate recommendations on the consultation times needed to obtain enough quality neurology visits. MATERIAL AND METHOD: We used consensus search techniques, in particular the Community Impression technique. An ad hoc committee developed a preliminary proposal which was later discussed during a unlimited attendance working meeting and eventually voted by members of the Spanish Society of Neurology. The committee drew up a final consensus report after analysing the debate results and counting the ballots. FINAL RECOMMENDATION: "It is necessary that the Spanish Society of Neurology establishes and recommends standardized consultation times for neurology outpatients visits in Spain. These standardized values refer to consultation time per patient, both in the first and follow-up visits, in a General Neurology Outpatients Clinic. Moreover, there must be considered 'recommendable times' on one hand, and 'minimal required times' on the other hand. Any time value below the minimal required time means that the consultation duration does not fulfill the minimal requirements needed to warrant a care with acceptable quality for the patient". These recommendations are: Time for first consultation. Recommendable time: 45 minutes (Minimal required time: 25 minutes). Time for follow-up consultation. Recommendable time: 20 minutes (Minimal required time: 15 minutes).
Asunto(s)
Neurología , Pacientes Ambulatorios , Calidad de la Atención de Salud , Derivación y Consulta , Humanos , Derivación y Consulta/normas , España , Factores de TiempoRESUMEN
INTRODUCCIÓN: El desarrollo de recomendaciones sobre tiempos de visita neurológica ayuda a planificar mejor la dotación de recursos humanos y puede contribuir a homogeneizar y mejorar la calidad de la asistencia. OBJETIVOS: Elaborar unas recomendaciones sobre los tiempos de visita necesarios para permitir que una consulta de neurología se pueda desarrollar con un nivel de calidad aceptable. MATERIAL Y MÉTODO: Se utilizaron técnicas de búsqueda del consenso, concretamente la técnica de Impresiones de la Comunidad. Un comité ad hoc desarrolló una propuesta preliminar que posteriormente fue discutida en una reunión de trabajo de asistencia no limitada, y votada por los miembros de la Sociedad Española de Neurología. Finalmente el comité ad hoc analizó los resultados del debate y de la votación y elaboró un documento final de consenso. RECOMENDACIÓN FINAL: "Es imprescindible que la Sociedad Española de Neurología establezca y recomiende unos estándares de tiempos de visita para la consulta de Neurología en nuestro país. Estos estándares se refieren a los tiempos de visita por paciente, tanto para primeras visitas como para visitas de revisión, en una consulta de neurología general, y distinguen entre tiempos recomendables y tiempos mínimos exigibles, por debajo de los cuales se considera que la duración de la consulta no cumple los requisitos mínimos que garanticen una calidad asistencial aceptable para el paciente". Las recomendaciones establecidas son: - Tiempo recomendable para la primera visita: 45 min (mínimo exigible: 25 min).- Tiempo recomendable para visita de revisión: 20 min (mínimo exigible: 15 min). (AU)
Asunto(s)
Humanos , Pacientes Ambulatorios , Neurología , Calidad de la Atención de Salud , Derivación y Consulta , España , Factores de TiempoRESUMEN
Heterozygous missense and splice-site mutations in the tau gene have been previously identified in familial frontotemporal dementia with autosomal dominant inheritance. Here we report a Spanish kindred in which two brothers born from a third-degree consanguineous marriage were both affected with atypical progressive supranuclear palsy. A homozygous deletion at codon 296 (delN296) was identified in one of the affected siblings. Among the heterozygous carriers, two members with probable Parkinson's disease were identified, but none of heterozygotes developed atypical parkinsonism. The delN296 mutation lies in the sequence corresponding to the second tubulin-binding repeat of tau protein and affects one asparagine residue absolutely conserved in other species. This finding indicates that homozygous mutations in the tau gene may also cause hereditary tauopathies.
Asunto(s)
Esclerosis Amiotrófica Lateral/genética , Parálisis Supranuclear Progresiva/genética , Proteínas tau/genética , Adulto , Anciano , Homocigoto , Humanos , Masculino , Persona de Mediana Edad , Mutación/genética , Linaje , Reacción en Cadena de la Polimerasa , Polimorfismo Conformacional Retorcido-Simple , EspañaRESUMEN
Mammalian sialidases have been reported to give a great influence on a number of cellular functions including cell differentiation and cell growth by removal of sialic acids from glycoproteins and gangliosides. To understand the roles of the sialidases during development, we investigated expression pattern of three types of sialidase in developing rat brain and liver. For this purpose we cloned a new membrane-associated sialidase cDNA from rat brain. The cDNA encodes 418 amino acids containing three ASP-boxes characteristic of sialidases and the major transcript of 3.5 kb is highly expressed in brain and cardiac muscle but low in liver. Competitive polymerase chain reaction methods were developed to evaluate the mRNA level together with activity assays in comparison with cytosolic and lysosomal sialidases previously obtained. The results indicate that the expression of individual sialidase genes is spatiotemporally controlled with distinct roles in determining the concentration and components of sialo-glycoconjugates during development.
Asunto(s)
Neuraminidasa/genética , Secuencia de Aminoácidos , Animales , Secuencia de Bases , Encéfalo/embriología , Encéfalo/enzimología , Encéfalo/crecimiento & desarrollo , Cartilla de ADN/genética , ADN Complementario/genética , Regulación del Desarrollo de la Expresión Génica , Regulación Enzimológica de la Expresión Génica , Hígado/embriología , Hígado/enzimología , Hígado/crecimiento & desarrollo , Membranas/enzimología , Datos de Secuencia Molecular , Neuraminidasa/metabolismo , ARN Mensajero/genética , ARN Mensajero/metabolismo , Ratas , Ratas Sprague-DawleyRESUMEN
INTRODUCTION: The diagnosis of dementia requires documentation of cognitive loss with respect to the patient's previous level. It would therefore be very useful to have models available which would predict the result expected in the tests normally used in the diagnosis of dementia. OBJECTIVE: To validate a model for prediction of the results of a test of semantic verbal fluency in persons with no dementia. PATIENTS AND METHODS: A model for the prediction of semantic verbal fluency deduced from a sample of 138 persons was applied to two other independent samples: the first of 86 persons from the same environment as the original sample and a second multicentric sample of 92 persons. The validity of the model was evaluated by residual analysis. RESULTS: No sex differences were seen between the samples, but there were differences regarding the other variables, including the observed and predicted verbal fluency. The residuals of the samples did not differ from each other nor vary from zero, but were normally distributed. CONCLUSION: The model proposed based on sociodemographic and clinical variables is valid and satisfactorily predicts the verbal fluency to be expected in each case.
Asunto(s)
Demencia/diagnóstico , Trastornos del Lenguaje/diagnóstico , Semántica , Anciano , Demencia/complicaciones , Femenino , Humanos , Trastornos del Lenguaje/etiología , Masculino , Modelos Neurológicos , Pruebas Neuropsicológicas , Valor Predictivo de las Pruebas , Reproducibilidad de los Resultados , Índice de Severidad de la EnfermedadRESUMEN
Introducción. El diagnóstico de demencia requiere la documentación de una pérdida cognitiva con respecto al nivel previo del sujeto, por lo que sería de gran utilidad disponer de modelos que pudiesen predecir el rendimiento esperado en las pruebas utilizadas habitualmente en el diagnóstico de demencia. Objetivo. Validar un modelo de predicción del rendimiento en una prueba de fluidez verbal semántica en sujetos sin demencia. Pacientes y métodos. Se aplicó un modelo de predicción de fluencia verbal semántica deducido de una muestra de 138 sujetos, a otras dos muestras independientes: una primera de 86 sujetos procedentes del mismo entorno de la muestra original y una segunda, multicéntrica, de 92 sujetos. La validez del modelo se evaluó por medio del análisis de residuales. Resultados. Las muestras no difieren en la distribución del sexo pero sí en el resto de las variables, entre ellas la fluencia verbal observada y predicha. Los residuales en las muestras no difieren entre sí ni son diferentes de cero, distribuyéndose normalmente. Conclusión. El modelo propuesto basado en variables sociodemográficas y clínicas es válido y predice de forma adecuada la fluidez verbal que debemos esperar en cada sujeto (AU)
Asunto(s)
Animales , Anciano , Masculino , Femenino , Humanos , Demencia/complicaciones , Trastornos del Conocimiento/diagnóstico , Trastornos del Habla/diagnóstico , Pruebas Neuropsicológicas , Reproducibilidad de los Resultados , Estudios de Casos y ControlesRESUMEN
BACKGROUND: Pathogenic mutations in the presenilin 1 (PS1) gene leading to early-onset Alzheimer disease have been described in various populations. The different mutations are not distributed randomly in the PS1 protein but are clustered in some PS1 exons. OBJECTIVE: To screen the PS1 gene in search of a potential mutation in a Spanish family with early-onset Alzheimer disease. METHODS: Single-stranded conformational polymorphism and heteroduplex analyses of all exons were used to search for a potential mutation. Subsequent sequencing of the DNA samples with an abnormal heteroduplex pattern was performed to identity the mutation in the sense strand and in the complementary strand. RESULTS: We found a novel mutation in exon 6 of the PS1 gene at a site that, so far, had not been described as a cluster of mutations. The mutation (an A to C change) causes a substitution of leucine for arginine at position 166 of the PS1 protein and is located adjacent to the transmembrane domain III, where few mutations have been found. In this family, the disease follows an autosomal inheritance pattern with early onset (range, 32-44 years). CONCLUSION: A novel missense mutation (Leu166Arg) at an atypical site associated with early-onset Alzheimer disease has been identified in a Spanish family.
Asunto(s)
Enfermedad de Alzheimer/diagnóstico , Enfermedad de Alzheimer/genética , Sustitución de Aminoácidos/genética , Proteínas de la Membrana/genética , Mutación Missense , Adulto , Apolipoproteínas E/genética , Análisis Mutacional de ADN , Exones/genética , Femenino , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Linaje , Reacción en Cadena de la Polimerasa , Polimorfismo Conformacional Retorcido-Simple , Presenilina-1 , EspañaRESUMEN
The expression of different sialoglycoconjugates and fucoglycoconjugates in normal mucosa and adenocarcinoma samples from 43 colorectal cancer patients was investigated by using specific lectins and applying a semiquantitative analysis. A pronounced decrease in the intracellular binding of the Maackia amurensis lectin, which recognizes alpha(2,3)-linked sialic acid residues, was found in the tumoral tissue. In contrast, a significant increase in the staining with the Sambucus nigra lectin (SNA I), which binds to alpha(2,6)-linked sialic acid residues, was detected in the epithelial cells as well as in the mucins from tumors. No significant differences in the reactivity with the Aleuria aurantia lectin, which recognizes the sequence Fuc(alpha1,6)GlcNAc, between normal and malignant colorectal tissues were detected. Furthermore, the correlation between lectin-binding profiles and the prognosis of colorectal cancer patients was examined. After an average postoperative follow-up period of 31 months, patients with tumors showing a strong SNA I staining presented a greater probability of disease recurrence. This result suggests that the intensity of staining with SNA I could be a valid parameter for predicting recurrence in colorectal cancer.
Asunto(s)
Adenocarcinoma/química , Adenocarcinoma/diagnóstico , Neoplasias Colorrectales/química , Neoplasias Colorrectales/diagnóstico , Fucosa/análisis , Ácido N-Acetilneuramínico/análisis , Lectinas de Plantas , Adenocarcinoma/metabolismo , Adenocarcinoma/patología , Antígenos de Carbohidratos Asociados a Tumores/análisis , Antígenos de Carbohidratos Asociados a Tumores/metabolismo , Neoplasias Colorrectales/metabolismo , Neoplasias Colorrectales/patología , Estudios de Seguimiento , Fucosa/análogos & derivados , Fucosa/metabolismo , Humanos , Inmunohistoquímica , Mucosa Intestinal/química , Mucosa Intestinal/citología , Mucosa Intestinal/metabolismo , Mucosa Intestinal/patología , Lectinas/metabolismo , Ácido N-Acetilneuramínico/análogos & derivados , Ácido N-Acetilneuramínico/metabolismo , Recurrencia Local de Neoplasia , Estadificación de Neoplasias , Fitohemaglutininas/metabolismo , Pronóstico , Proteínas Inactivadoras de Ribosomas , Estadísticas no Paramétricas , Especificidad por SustratoRESUMEN
INTRODUCTION AND OBJECTIVE: The Semantic Verbal Fluency Test (sVFT) is very sensitive to cognitive deterioration. Standard values are usually those found in normal persons with an average or high cultural level. We analyze the results of a sVFT in a broad sample of persons assessed in a Neurology Clinic so as to find the standard values in this particular population. PATIENTS AND METHODS: A sVFT (animals in one minute) was given to 138 patients without dementia, aged over 55 years, assessed in the Neurology Clinic. Variables recorded were sex, age, years of schooling, studies completed, diagnosis and place of origin. A bivariate descriptive study and multivariate lineal regression analysis was done following a 'step by step' strategy. RESULTS: This group had a low educational level (72% had been to school for less than 10 years), with an average +/- standard error of 16.02 +/- 0.45 animals in one minute. The variables: years of schooling, sex, age and diagnosis showed a significant association with semantic verbal fluency in the adjusted regression model. CONCLUSIONS: Our values are lower than those of other standard groups. This may be related to the low educational level of our group and to the inclusion of persons with neurological disorders. The lineal regression model proposed permits prediction of the values of semantic verbal fluency in specific persons depending on their personal characteristics.
Asunto(s)
Cognición/fisiología , Semántica , Habla , Conducta Verbal , Anciano , Anciano de 80 o más Años , Estudios Transversales , Escolaridad , Femenino , Humanos , Masculino , Persona de Mediana Edad , Pruebas Neuropsicológicas , Estudios RetrospectivosRESUMEN
OBJECTIVE: To characterize the mutation responsible for early-onset AD in a large Spanish kindred. BACKGROUND: Mutations in the presenilin 1 (PS1) gene have been identified and are known to be responsible for 18 to 50% of familial early-onset AD cases. METHODS: Patients were characterized clinically. The proband was further studied with EEG, CSF analysis, CT, brain biopsy, and histology. Other members were studied using EEG, CT, MRI, and SPECT. Genetic analysis of PS1 was performed using PCR amplification of PS1 exons and direct sequencing followed by PS1 modeling of the normal and mutant PS1 proteins. RESULTS: A novel mutation (Ser169Pro) in exon 6 of the PS1 gene was identified in different affected members. The Ser169Pro mutation is located at a site of the PS1 protein that is not a cluster of mutations. The mutation was not present in 100 general population controls and in 50 unrelated sporadic AD cases. The Ser169Pro mutation is associated with generalized myoclonic seizures several years after the initial symptoms of AD, a very early AD onset (< or =35 years), and a rapidly progressive cognitive decline. CONCLUSIONS: The absence of the PS1 Ser169Pro mutation in the general population and in sporadic AD cases together with its detection in the affected members of this kindred suggests that it is a pathogenic mutation. The serine to proline change predicts a kink in the alpha-helix of the transmembrane domain of the PS1 protein that could radically disrupt its normal structure. Further characterization of the effect of this mutation could help identify the function of the PS1 protein and the pathogenic mechanisms of AD.
Asunto(s)
Enfermedad de Alzheimer/complicaciones , Enfermedad de Alzheimer/genética , Epilepsias Mioclónicas/complicaciones , Proteínas de la Membrana/genética , Secuencia de Aminoácidos , Exones , Datos de Secuencia Molecular , Mutación , Linaje , Fenotipo , Presenilina-1 , España , Factores de TiempoRESUMEN
The syndrome known as migraine with cerebrospinal fluid (CSF) pleocytosis is a clinical syndrome of controversial pathogenesis characterized by typical migraine headaches occurring in a fixed period of time along with lymphocyte pleocytosis in CSF which persists during intercritical periods. We present four new cases of this syndrome diagnosed in our service and we review those cases published in the literature in which there were no personal headache antecedents, attempting in this way to separate this syndrome from other types of migraine as included in the present classification. There also exists the possibility that it might be a question of a secondary process, the pathogenesis of which may play a part in the activation of the humoral immune system, given the frequent existence of immunogenic antecedents the previous days as well as that of a humoral reaction expressed as an increase in IgG levels in CSF with normal blood electrophoresis.
Asunto(s)
Linfocitos , Meningoencefalitis/líquido cefalorraquídeo , Trastornos Migrañosos/líquido cefalorraquídeo , Humanos , Inmunoglobulina G/líquido cefalorraquídeo , MasculinoRESUMEN
The case of a 25-year old man who presented with meningoencephalitis as the sole clinical manifestation of Q fever is described. Serological studies revealed the presence of IgM and IgG antibodies to Coxiella burnetii. The patient responded favourably to a ten-day course of i.v. ceftriaxone and was discharged without any neurological sequelae.