Asunto(s)
Proteínas de Transferencia de Ésteres de Colesterol/antagonistas & inhibidores , Oxazolidinonas/farmacología , Oxazolidinonas/farmacocinética , Administración Oral , Adolescente , Adulto , Proteínas de Transferencia de Ésteres de Colesterol/administración & dosificación , Relación Dosis-Respuesta a Droga , Método Doble Ciego , Esquema de Medicación , Humanos , Masculino , Persona de Mediana Edad , Oxazolidinonas/administración & dosificación , Valores de Referencia , Factores de Riesgo , Sensibilidad y Especificidad , Adulto JovenRESUMEN
This study examined the nature of schizotypal symptoms in the relatives of schizophrenia patients and investigated phenomenological differences in symptomatology manifested by a familial sample and a clinical sample of personality disorder patients. Confirmatory factor analyses were used to test models of DSM-III-R schizotypal symptoms in the first degree relatives (n = 172) of schizophrenia patients. A multisample analysis was conducted to determine whether the same model adequately described the schizotypal symptoms rated in the relatives of schizophrenia patients and in clinically selected personality disorder patients. The results indicated that a three-factor model consisting of cognitive/perceptual, interpersonal, and disorganization factors yielded the best fit to the data from the relatives of schizophrenia patients, but that this model did not adequately describe both the relatives of schizophrenia patients and personality disorder patients. These findings indicate that the structure of schizotypal symptoms in the relatives of schizophrenia patients is similar to the three-factor model of schizophrenia symptoms often reported, but not the same as the structure of schizotypal symptoms in clinically selected personality disorder patients.
Asunto(s)
Familia/psicología , Trastorno de la Personalidad Esquizotípica/diagnóstico , Trastorno de la Personalidad Esquizotípica/genética , Adolescente , Anciano , Anciano de 80 o más Años , Trastornos del Conocimiento/diagnóstico , Femenino , Humanos , Relaciones Interpersonales , Masculino , Persona de Mediana Edad , Prevalencia , Escalas de Valoración Psiquiátrica , Trastorno de la Personalidad Esquizotípica/epidemiologíaRESUMEN
Lymphocytes typically interact with implanted biomaterials through adsorbed exogenous proteins. To provide a more complete characterization of these interactions, analysis of lymphocyte migration on adsorbed extracellular matrix proteins must accompany the commonly performed adhesion studies. We report here a comparison of the migratory and adhesion behavior of Jurkat cells (a T lymphoblastoid cell line) on tissue culture treated and untreated polystyrene surfaces coated with various concentrations of fibronectin. The average speed of cell locomotion showed a biphasic response to substrate adhesiveness for cells migrating on untreated polystyrene and a monotonic decrease for cells migrating on tissue culture-treated polystyrene. A modified approach to the persistent random walk model was implemented to determine the time dependence of cell migration parameters. The random motility coefficient showed significant increases with time when cells migrated on tissue culture-treated polystyrene surfaces, while it remained relatively constant for experiments with untreated polystyrene plates. Finally, a cell migration computer model was developed to verify our modified persistent random walk analysis. Simulation results suggest that our experimental data were consistent with temporally increasing random motility coefficients.
Asunto(s)
Movimiento Celular , Fibronectinas/metabolismo , Linfocitos/citología , Adsorción , Algoritmos , Adhesión Celular , Técnicas de Cultivo de Célula , Humanos , Células Jurkat , Linfocitos/metabolismo , Modelos Biológicos , Poliestirenos/metabolismo , Estrés Mecánico , Factores de TiempoRESUMEN
The investigation of cognitive deficits in patients with schizotypal personality disorder (SPD) is important both to establish commonalities between SPD and schizophrenia and to clarify the significance of these cognitive deficits for schizophrenic disorders. The purpose of this study was to examine verbal learning and memory with the California Verbal Learning Test (CVLT) in a group of patients with SPD (n=24) and a group of patients with personality disorders other than SPD (OPD; n=25). The results indicated that SPD patients learned significantly fewer words with practice on the CVLT than OPD patients (F=4.32, df=1,47, p < 0.05), and their rate of learning was reduced relative to normative standards. These findings suggest that SPD patients have a deficit in verbal learning that is similar to, although not as severe as, the impairments seen in schizophrenia.
Asunto(s)
Discapacidades para el Aprendizaje/psicología , Memoria , Trastorno de la Personalidad Esquizotípica/psicología , Aprendizaje Verbal , Adulto , Cognición , Diagnóstico Diferencial , Femenino , Humanos , Masculino , Persona de Mediana Edad , Esquizofrenia/diagnóstico , Trastorno de la Personalidad Esquizotípica/clasificación , Trastorno de la Personalidad Esquizotípica/diagnósticoRESUMEN
Hereditary tyrosinemia type 1 (HT1) is a rare metabolic disease caused by a deficient activity of the enzyme fumarylacetoacetase (FAH). To investigate the molecular heterogeneity of tyrosinemia, the geographic distribution and the genotype-phenotype relationship, we have analyzed the FAH genotype of 25 HT1 patients. Mutation screening was performed by PCR amplification of exons 1-14 of the FAH gene, followed by SSCP analysis and direct sequencing of the amplified exons. Fourteen different mutations were found, of which seven were novel, viz. three missense mutations (G158D, P261L, F405H), a deletion of three nucleotides causing a deletion of serine (DEL366S) and three splice site mutations: IVS2+1(g-t), IVS6-1(g-c), IVS8-1(g-c). The splice site mutations IVS6-1(g-t) and IVS12+5(g-a) were frequently found in countries around the Mediterranean and northwestern Europe, respectively. No clear correlation between the genotype and the three major HT1 subtypes could be established.
Asunto(s)
Errores Innatos del Metabolismo de los Aminoácidos/genética , Hidrolasas/genética , Mutación , Tirosina/sangre , Errores Innatos del Metabolismo de los Aminoácidos/sangre , Errores Innatos del Metabolismo de los Aminoácidos/epidemiología , Secuencia de Bases , ADN , Europa (Continente)/epidemiología , Heterogeneidad Genética , Heterocigoto , Homocigoto , Humanos , Región Mediterránea/epidemiología , Polimorfismo Conformacional Retorcido-SimpleRESUMEN
Previous studies have found that early neuromotor deficits may be a precursor of later psychopathology. The present study examined the relationship between neuromotor dysfunction and behavioral deviance in children characterized by a variety of risk factors (parental schizophrenia, parental psychiatric disorder other than schizophrenia, and parental maltreatment). The sample consisted of 108 children (average age 9.75 years) who were assessed twice, approximately 1 year apart. It was was found that maltreated children had poorer neuromotor functioning and more behavior problems than children who were not maltreated, regardless of parental psychiatric status. The results also indicated that the relationship between neuromotor functioning and problem behaviors varied as a function of parental psychiatric status. These findings suggest that, although the effects of maltreatment are generalized and pervasive, there are distinctive relationships between neuromotor functioning and behavioral deviance depending on the nature of the risk factors a child has been exposed to.
Asunto(s)
Hijo de Padres Discapacitados/clasificación , Hijo de Padres Discapacitados/estadística & datos numéricos , Salud de la Familia , Trastornos Mentales/epidemiología , Trastornos del Movimiento/epidemiología , Adolescente , Análisis de Varianza , Estudios de Casos y Controles , Distribución de Chi-Cuadrado , Niño , Maltrato a los Niños/estadística & datos numéricos , Trastornos de la Conducta Infantil/epidemiología , Trastornos de la Conducta Infantil/etiología , Desarrollo Infantil , Trastornos del Conocimiento/epidemiología , Trastornos del Conocimiento/etiología , Comorbilidad , Estudios Transversales , Bases de Datos Factuales , Femenino , Humanos , Estudios Longitudinales , Masculino , Trastornos Mentales/complicaciones , Trastornos Mentales/etiología , Trastornos del Movimiento/etiología , Trastornos Neuróticos/epidemiología , Trastornos Neuróticos/etiología , New York/epidemiología , Desarrollo de la Personalidad , Análisis de Regresión , Factores de Riesgo , Esquizofrenia/complicaciones , Esquizofrenia/epidemiología , Trastorno de la Conducta Social/epidemiología , Trastorno de la Conducta Social/etiologíaRESUMEN
Three patients with propionic acidemia were studied. The first patient was diagnosed at the age of 9 mo, 3 mo after he developed hypotonia and choreoathetoid movements after an upper respiratory tract infection. The second patient was diagnosed at the age of 1.5 mo when she became comatose after nasogastric tube feeding because of failure to thrive. The third patient was diagnosed at the age of 5 d when she presented with feeding difficulties, hypotonia, and respiratory insufficiency. Magnetic resonance imaging (MRI) of the brain in all patients revealed delayed myelination and some cerebral atrophy. In the patient with choreoathetosis, MRI showed bilateral abnormalities in the signal intensity of the putamen and caudate nuclei. MRI of the other two patients showed normal basal ganglia. Proton magnetic resonance spectroscopy (1H MRS) from a voxel located in the basal ganglia revealed a decrease in N-acetylaspartate and myo-inositol peaks and an elevation of glutamine/ glutamate. The presence of spectroscopic abnormalities in a stable metabolic condition, in particular the rise in glutamine/ glutamate, indicates that the metabolic balance on cerebral parenchymal level is less optimal than estimated from biochemical analysis of urine, plasma, or cerebrospinal fluid.
Asunto(s)
Errores Innatos del Metabolismo de los Aminoácidos/sangre , Ganglios Basales/patología , Carboxiliasas/deficiencia , Imagen por Resonancia Magnética , Espectroscopía de Resonancia Magnética/métodos , Propionatos/sangre , Edad de Inicio , Estudios de Casos y Controles , Femenino , Estudios de Seguimiento , Humanos , Lactante , Recién Nacido , Masculino , Metilmalonil-CoA Descarboxilasa , ProtonesRESUMEN
There is some support for the hypothesis that the factor structure of schizophrenia symptoms is similar to the factor structure of schizotypal symptoms in nonschizophrenia populations. However, no studies to date have examined schizotypal symptoms in patients with personality disorders. In this study, confirmatory factor analyses were conducted to test the relative fit of several models of the factorial structure of schizotypal symptoms in patients diagnosed with personality disorders. The EQS: Structural Equations Program was used to analyze DSM-III symptoms of schizotypal personality disorder (SPD) based on structured clinical interviews with 213 patients meeting a diagnosis for at least one personality disorder. A subgroup of the total sample was also evaluated for DSM-III-R criteria (n = 143) to test competing models of the DSM-III-R symptoms of SPD. A three-factor model consisting of a cognitive-perceptual, interpersonal, and paranoid factor yielded the best fit to the data relative to the other models tested. These results suggest that the three-factor model of schizophrenia symptoms may not entirely correspond to the factors underlying milder schizotypal symptoms expressed in a clinical population. It is suggested that future research focus on both the similarities and the differences between SPD and schizophrenia.
Asunto(s)
Trastorno de la Personalidad Esquizotípica/psicología , Adulto , Análisis Factorial , Femenino , Humanos , Masculino , Trastornos Mentales/clasificación , Esquizofrenia/diagnóstico , Psicología del Esquizofrénico , Trastorno de la Personalidad Esquizotípica/diagnósticoRESUMEN
The complete fumarylacetoacetate hydrolase (FAH) genotype of probands of thirteen unrelated families with hereditary tyrosinemia type 1 (HT 1) was established. The screening was performed by analysis of exons 2-14 of the FAH gene by using the polymerase chain reaction (PCR) and of the mRNA by reverse transcription/PCR. Nine different mutations were identified, of which six are novel. Three mutations involve consensus sequences for correct splicing, viz. IVS 6-1 (g-t), IVS 7-1 (g-a) and IVS 12 + 5 (g-a). Two missense mutations (C193R and G369V) and three nonsense mutations (R237X, E357X and E364X) were found. One silent mutation N232N was associated with the skipping of exon 8 from the FAH mRNA. Analysis of the effect of the respective mutations on the FAH mRNA showed a strong reduction of FAH mRNA levels in association with the nonsense mutations, and normal levels with the missense mutations. The splice consensus mutations give deletions of complete or small parts of exon sequences from the FAH mRNA. Data suggest a founder effect for several of the mutations, with a frequency for both the IVS 6-1 (g-t) and IVS 12 + 5 (g-a) mutations of approximately 30% in the HT 1 probands. No strict correlation between genotype and phenotype, i.e. the acute, subacute or chronic form of HT 1, was evident.
Asunto(s)
Empalme Alternativo , Errores Innatos del Metabolismo de los Aminoácidos/genética , Hidrolasas/genética , Mutación , Tirosina/metabolismo , Alelos , Errores Innatos del Metabolismo de los Aminoácidos/enzimología , Secuencia de Aminoácidos , Secuencia de Bases , Preescolar , Secuencia de Consenso , Cartilla de ADN , Exones , Genotipo , Humanos , Lactante , Datos de Secuencia Molecular , Fenotipo , Mutación Puntual , Reacción en Cadena de la Polimerasa , Empalme del ARN , ARN Mensajero/biosíntesisRESUMEN
Previous studies have generally found that children at risk for psychopathology (i.e. children characterized by risk factors such as parental psychopathology and maltreatment) display more deviant behavior and cognitive dysfunctions than children not at risk. The present study examined the relationship between behavioral deviance and cognition in children characterized by a variety of risk factors (parental schizophrenia, parental psychiatric disorders other than schizophrenia, parental maltreatment). The results indicated that the effects of parental schizophrenia could be distinguished from the more generalized effects of maltreatment and that cognitive deficits were associated with schizoid behavior in children at risk for schizophrenia. These findings suggest that cognitive ability may serve as a moderator of vulnerability to maladjustment in children at risk for schizophrenia.
Asunto(s)
Maltrato a los Niños/psicología , Trastornos de la Conducta Infantil/psicología , Hijo de Padres Discapacitados/psicología , Trastornos del Conocimiento/psicología , Esquizofrenia/diagnóstico , Psicología del Esquizofrénico , Adolescente , Agresión/psicología , Niño , Trastornos de la Conducta Infantil/genética , Preescolar , Trastornos del Conocimiento/genética , Femenino , Estudios de Seguimiento , Humanos , Delincuencia Juvenil/psicología , Masculino , Determinación de la Personalidad , Desarrollo de la Personalidad , Factores de Riesgo , Trastorno de Personalidad Esquizoide/genética , Trastorno de Personalidad Esquizoide/psicología , Esquizofrenia/genética , Trastorno de la Personalidad Esquizotípica/genética , Trastorno de la Personalidad Esquizotípica/psicologíaRESUMEN
An infant girl presented with recurrent episodes of Reye-like syndrome associated with hypoketosis and plasma carnitine levels in the high-normal range. A liver biopsy revealed massive macrovesicular steatosis. Ketogenesis was absent after a long-chain triglyceride loading test; in contrast, the medium-chain triglyceride loading test resulted in a brisk rise in plasma ketone concentration. Carnitine palmitoyltransferase I deficiency was demonstrated in cultured skin fibroblasts. Hypoglycemia was only found once in the neonatal period. Renal carnitine handling was normal except for a higher renal threshold for free carnitine. Mild, persistent metabolic acidosis was a constant feature, even during periods between metabolic decompensation. Evaluation of the renal acidification capacity showed a failure to acidify the urine during spontaneous acidosis but increased acid excretion and a normal decrease of urinary pH after acid loading. Also, a small difference between urine and blood PCO2 was found after bicarbonate administration. This acidification defect can best be explained as an abnormality in distal tubular H+ secretion: a rate-dependent distal tubular acidosis.off is speculated that long-chain acylcarnitines, substances that cannot be formed by carnitine palmitoyltransferase I-deficient patients, play an essential role in renal acid-base homeostasis.