RESUMEN
Although the clinical goal of resective epilepsy surgery is seizure freedom, patients have a wide set of expectations for this invasive procedure. The goal of this study was to evaluate potential gender differences in expectations among patients undergoing resective epilepsy surgery. Ratings of the importance of 12 potential impacts ("expectations") of resective surgery were analyzed in a seven-center cohort study including 389 adults aged 16 and older who underwent resective epilepsy surgery. Men and women both ranked anticipated changes in driving and memory as the most important presurgical expectations. Women rated driving, physical activity limitations, and economic worries as less important, and fatigue and pregnancy concerns as more important than did men (p's< or =0.05). Exploratory factor analysis indicated a different pattern of associations among the 12 importance items for men and women. Whether gender differences in presurgical values are associated with outcomes needs exploration.
Asunto(s)
Epilepsia/fisiopatología , Epilepsia/cirugía , Complicaciones Posoperatorias/fisiopatología , Caracteres Sexuales , Adolescente , Adulto , Conducción de Automóvil , Electroencefalografía , Análisis Factorial , Femenino , Humanos , Masculino , Memoria/fisiología , Procedimientos Neuroquirúrgicos/métodos , Valor Predictivo de las Pruebas , Calidad de Vida , Resultado del Tratamiento , Adulto JovenRESUMEN
OBJECTIVE: The goal of this work was to evaluate the relationship between neuronal injury/loss in the hippocampus, thalamus, and putamen in temporal lobe epilepsy (TLE) patients using (1)H magnetic resonance spectroscopic imaging. METHODS: (1)H spectroscopic images from the hippocampus and thalamus of controls and patients with TLE were acquired at 4 T. The spectroscopic imaging data were reconstructed using an automated voxel-shifting method based on anatomic landmarks providing four, six, and three loci for the hippocampus, thalamus, and putamen, respectively. For correlation analysis, the hippocampal and striatal loci were averaged to provide single estimates of the entire structure, whereas the thalamus was divided into two regions, an anterior and posterior measure, using the average of three loci each. RESULTS: The ratio of N-acetyl aspartate to creatine (NAA/Cr), a measure of neuronal injury/loss, was significantly reduced in both the ipsilateral and contralateral hippocampi and thalami. NAA/Cr in the ipsilateral hippocampus was significantly correlated with the ipsilateral and contralateral anterior and posterior thalami, putamen, and contralateral hippocampus. In control subjects, the hippocampi were only correlated with each other. CONCLUSIONS: The data demonstrate that there is significant neuronal injury/loss in both the ipsilateral and contralateral thalami in temporal lobe epilepsy patients, with greater impairment in the anterior portions of the ipsilateral thalamus. The degree of injury/loss in the ipsilateral and contralateral thalamus and putamen is directly correlated with that of the ipsilateral hippocampus. This is consistent with the hypothesis that the impairment and damage associated with recurrent seizures as measured by N-acetyl aspartate originating in the hippocampus results in injury and impairment in other subcortical structures.
Asunto(s)
Epilepsia del Lóbulo Temporal/fisiopatología , Espectroscopía de Resonancia Magnética/métodos , Red Nerviosa/fisiopatología , Adolescente , Adulto , Ácido Aspártico/análogos & derivados , Ácido Aspártico/metabolismo , Corteza Cerebral/metabolismo , Corteza Cerebral/fisiopatología , Creatina/metabolismo , Epilepsia del Lóbulo Temporal/diagnóstico , Epilepsia del Lóbulo Temporal/metabolismo , Femenino , Hipocampo/metabolismo , Hipocampo/fisiopatología , Humanos , Masculino , Persona de Mediana Edad , Red Nerviosa/metabolismo , Putamen/metabolismo , Putamen/fisiopatología , Tálamo/metabolismo , Tálamo/fisiopatologíaRESUMEN
OBJECTIVE: To determine age-specific incidence and cumulative incidence of epilepsy in a well-defined cohort of elderly people, and to examine how rates of epilepsy are modified by sex, race, stroke, dementia, head injury, and depression. METHODS: The authors examined data from a reconstructed cohort based on 1919 community-dwelling volunteers, followed as part of a large ongoing prospective aging study. RESULTS: Age-specific incidence was 10.6 (per 100,000 person-years) between ages 45 and 59, 25.8 between ages 60 and 74, and 101.1 between ages 75 and 89. Cumulative incidence was 0.15% from age 45 to age 60, 0.38% to age 70, 1.01% to age 80, and 1.47% to age 90. In addition, the difference in cumulative incidence among African-American subjects approached statistical significance (57.6/100,000 person-years versus 26.1 in Caucasian, p=0.10), and the difference in incidence among subjects reporting a history of stroke was significantly elevated (p=0.029). Incidence of epilepsy was not statistically elevated among males, those with dementia, or individuals reporting a history of head injury or treatment for depression. Among "healthy" subjects without history of stroke, head injury, or dementia, we observed a cumulative risk of epilepsy with onset after age 60 of only 1.1%. CONCLUSIONS: The incidence of epilepsy was low in this relatively healthy cohort of elderly people, especially among subjects without known risk factors. In this study we identified African-American race as a risk factor in the elderly for epilepsy independent of stroke.
Asunto(s)
Envejecimiento/fisiología , Epilepsia/epidemiología , Accidente Cerebrovascular/epidemiología , Negro o Afroamericano , Distribución por Edad , Anciano , Anciano de 80 o más Años , Comorbilidad , Traumatismos Craneocerebrales/complicaciones , Traumatismos Craneocerebrales/epidemiología , Demencia/complicaciones , Demencia/epidemiología , Epilepsia/etnología , Epilepsia/etiología , Femenino , Humanos , Incidencia , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Factores de Riesgo , Accidente Cerebrovascular/complicaciones , Población BlancaRESUMEN
Clinicians often encounter patients whose neurologic attacks appear to cluster. In a daily diary study, the authors explored whether clustering is a true phenomenon in epilepsy and can be identified in the clinical setting. Nearly half the subjects experienced at least one episode of three or more seizures in 24 hours; 20% also met a statistical clustering criterion. Utilizing the clinical definition of clustering should identify all seizure clusterers, and false positives can be determined with diary data.
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Epilepsia/diagnóstico , Adulto , Enfermedad Crónica , Estudios de Cohortes , Diagnóstico Diferencial , Epilepsia/fisiopatología , Reacciones Falso Positivas , Femenino , Humanos , Masculino , Registros Médicos , Examen Neurológico , Recurrencia , Agrupamiento Espacio-Temporal , Distribuciones Estadísticas , Factores de TiempoRESUMEN
The mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) syndrome is characterized by the association of gastrointestinal and neurological symptoms. It is a rare autosomal recessive mitochondrial disorder with multiple mitochondrial DNA deletions and/or depletion. It is caused by thymidine phosphorylase (TP) gene mutations resulting in a complete abolition of TP activity. We tested 31 unrelated patients presenting either with a complete MNGIE syndrome (8 patients), a severe intestinal pseudo-obstruction (10 patients), and multiple deletions and/or depletion of mitochondrial DNA (13 patients). All the tested patients presenting with a complete MNGIE had increased thymidine levels in plasma and urine, and no TP activity. The group with pseudo-obstruction syndrome had normal or partial reduction of TP activity. We found pathogenic mutations on TP gene only in the MNGIE syndrome group: all the MNGIE patients were compound heterozygous or homozygous for mutations in the TP gene. Eight of these mutations are yet unreported, confirming the lack of genotype/phenotype correlation in this syndrome. Enzymatic activity and thymidine level are thus rapid diagnosis tests to detect MNGIE affected patients prior to genetic testing for patients with gastrointestinal symptoms.
Asunto(s)
Encefalomiopatías Mitocondriales/genética , Mutación , Timidina Fosforilasa/genética , Adulto , Niño , ADN Mitocondrial/genética , Humanos , Seudoobstrucción Intestinal/genética , Eliminación de Secuencia , Síndrome , Timidina/sangre , Timidina/orina , Timidina Fosforilasa/metabolismoRESUMEN
The authors studied a patient with musicogenic epilepsy triggered by one specific musical piece using 3D PRESTO fMRI. During epileptic aurae initiated by the stimulus, signal increases were found in the left anterior temporal lobe, correlating with ictal EEG and SPECT showing a left anterior temporal focus, and the right gyrus rectus. Because fMRI indicated a cascade of recruitment of the ventral frontal lobes by epileptogenic music, left anterior temporal lobe activity could be secondary to a right gyrus rectus focus, possibly triggered by emotional processing of music.
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Epilepsia Refleja/diagnóstico , Epilepsia Refleja/fisiopatología , Lóbulo Frontal/fisiopatología , Música , Lóbulo Temporal/fisiopatología , Estimulación Acústica/métodos , Electroencefalografía , Emociones , Femenino , Lóbulo Frontal/diagnóstico por imagen , Humanos , Imagen por Resonancia Magnética , Persona de Mediana Edad , Lóbulo Temporal/diagnóstico por imagen , Factores de Tiempo , Tomografía Computarizada de Emisión de Fotón ÚnicoRESUMEN
PURPOSE: We examined the association between seizure clustering and convulsive status epilepticus (SE) in patients with intractable complex partial seizures, to identify whether patients whose seizures typically cluster are at high risk for convulsive SE (CSE). METHODS: Seventy-six patients with intractable complex partial epilepsy who underwent presurgical evaluation in the Montefiore Epilepsy Management Unit from 1993 to 1997 were contacted and interviewed about typical seizure frequency and distribution and history of CSE. Seizure clustering was defined as three or more complex partial seizures within a 24-h period, with return to baseline between seizures. RESULTS: Of the 76 patients contacted, 21 (28%) had experienced at least one episode of CSE, and 36 (47%) typically experienced clustered seizures. SE occurred in 16 (44%) of 36 patients with clustered seizures, and in five (12.5%) of 40 patients with nonclustered seizures (p < 0.002). Of 53 patients with temporal lobe epilepsy, CSE occurred in 13 (50%) of 26 patients with clustered seizures, and four (14.8%) of 27 patients with nonclustered seizures (p < 0.006). CONCLUSIONS: Patients with intractable complex partial or localization-related epilepsy who typically experience seizure clustering are at a significantly higher risk for CSE than are patients with nonclustered seizures.
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Epilepsia Parcial Compleja/epidemiología , Estado Epiléptico/epidemiología , Adolescente , Adulto , Niño , Comorbilidad , Electroencefalografía/estadística & datos numéricos , Epilepsia Parcial Compleja/diagnóstico , Epilepsia Parcial Compleja/fisiopatología , Epilepsia del Lóbulo Frontal/diagnóstico , Epilepsia del Lóbulo Frontal/epidemiología , Epilepsia del Lóbulo Frontal/fisiopatología , Epilepsia del Lóbulo Temporal/diagnóstico , Epilepsia del Lóbulo Temporal/epidemiología , Epilepsia del Lóbulo Temporal/fisiopatología , Humanos , Persona de Mediana Edad , Ciudad de Nueva York/epidemiología , Estado Epiléptico/diagnóstico , Estado Epiléptico/fisiopatologíaRESUMEN
BACKGROUND: Selective shunting during carotid endarterectomy is widely performed, but the optimal approach for predicting when a shunt is unnecessary remains uncertain. We evaluated the ability of preoperative cerebral angiography to predict when carotid endarterectomy could be safely performed without a shunt. STUDY DESIGN: Eighty-seven patients undergoing carotid endarterectomy between August 1991 and December 1997 had preoperative cerebral angiograms. The angiograms were evaluated for the presence of collateral flow from the contralateral carotid through the anterior communicating artery and from the posterior circulation through the posterior communicating artery. Patients then underwent endarterectomy and were selectively shunted based on somatosensory evoked potential changes. Internal carotid artery stump pressure was routinely measured in all patients. RESULTS: Nine patients (10%) had a shunt placed based on somatosensory evoked potential changes and none of the 87 patients had a perioperative (30 days) stroke. Angiography revealed that 36 patients (41%) had no cross-filling from the contralateral carotid through the anterior communicating artery. Nine of these patients (25%) required a shunt; none of the 51 patients with adequate cross-filling (p < 0.001) did. Furthermore, 94% of the patients without cross-filling but with a patent ipsilateral posterior communicating artery did not require a shunt using somatosensory evoked potential changes as the standard for shunt insertion. Stump pressure measurements (> or = 25 mmHg) or (> or = 50 mmHg) did not reliably exclude the need for a shunt. Only 2 of 15 patients with contralateral carotid occlusion and 1 of 16 patients with a prior ipsilateral stroke required shunts. CONCLUSIONS: In the presence of cross-filling from the contralateral carotid artery, shunt insertion was uniformly unnecessary. In addition, routine shunting of patients with previous ipsilateral strokes or contralateral carotid occlusion was not always necessary. Stump pressures were less sensitive than angiographic criteria in determining when a shunt was unnecessary. Evaluation of cross-filling from the contralateral carotid artery on preoperative angiography can predict with certainty which patients will not require a shunt.
Asunto(s)
Arteria Carótida Externa/diagnóstico por imagen , Arteria Carótida Interna/diagnóstico por imagen , Endarterectomía Carotidea/métodos , Anciano , Arteria Carótida Externa/cirugía , Arteria Carótida Interna/cirugía , Estenosis Carotídea/diagnóstico por imagen , Estenosis Carotídea/cirugía , Angiografía Cerebral/estadística & datos numéricos , Femenino , Humanos , Masculino , Persona de Mediana Edad , Pronóstico , Reproducibilidad de los Resultados , SeguridadRESUMEN
PURPOSE: To determine whether seizures that occur in clusters are more likely to reflect activity of the same focus than are seizures that are widely separated in time. METHODS: EEG monitoring data from 14 patients with bilateral independent seizure onsets were analyzed. Twelve of the 14 patients had surface recordings only, and two had implanted electrodes. Interseizure intervals (ISIs) for 151 seizure pairs were measured. Seizure onsets were classified as right hemispheric, left hemispheric, or indeterminate. Seizure pairs were classified as concordant for hemisphere of onset, discordant, or indeterminate. The relation between seizure-pair concordance and ISI was examined by using univariate analysis and analysis of variance (ANOVA). RESULTS: Both seizures originated from the same hemisphere in 61 (75%) of 81 seizure pairs with ISIs <8 h, compared with 28 (55%) of 51 seizure pairs with ISIs >8 h (p < 0.015). The cluster effect was not more pronounced for ISIs <2 h. ANOVA demonstrated that the relation between ISI and seizure concordance was not a result of the variability in seizure rates among patients. In three patients, the presence of bilateral foci was not demonstrated until more than five seizures were recorded. CONCLUSIONS: Seizures that occur after an ISI of <8 h are more likely to come from the same side as the previous seizure than are those with longer ISIs. Thus clustered seizures should not be given the same weight as seizures widely separated in time. In addition, more than five seizures may sometimes be needed to adequately assess patients being evaluated for epilepsy surgery.
Asunto(s)
Corteza Cerebral/fisiopatología , Electroencefalografía/estadística & datos numéricos , Lateralidad Funcional/fisiología , Convulsiones/diagnóstico , Análisis de Varianza , Análisis por Conglomerados , Electrodos Implantados , Electroencefalografía/métodos , Epilepsia Parcial Compleja/diagnóstico , Epilepsia Parcial Compleja/fisiopatología , Humanos , Monitoreo Fisiológico , Convulsiones/fisiopatologíaRESUMEN
Scabies is a common infestation for patients of all ages throughout the world. One of the standard therapies for scabies is 1% lindane lotion. Lindane has been associated with neurotoxic reactions, specifically seizures. We describe a case of a middle-aged adult man with human immunodeficiency virus (HIV) infection who was found to have typical scabies and was treated with a single topical application of lindane. Two hours after the application, the patient experienced a new-onset generalized seizure. We believe that the triad of HIV infection, medications that reduce seizure thresholds, and percutaneous absorption factors, in the aggregate, induced the seizure. We believe that lindane should not be prescribed for patients with HIV infection.
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Seropositividad para VIH/complicaciones , Hexaclorociclohexano/efectos adversos , Escabiosis/tratamiento farmacológico , Convulsiones/inducido químicamente , Administración Tópica , Adulto , Animales , Clorpromazina/metabolismo , Clorpromazina/farmacología , Perros , Interacciones Farmacológicas , Hexaclorociclohexano/metabolismo , Hexaclorociclohexano/uso terapéutico , Humanos , Masculino , Escabiosis/complicaciones , Convulsiones/etiología , Absorción CutáneaRESUMEN
The MAL gene family of Saccharomyces consists of five multigene complexes (MAL1, MAL2, MAL3, MAL4, and MAL6) each of which encodes maltose permease (GENE 1), maltase (GENE 2) and the trans-acting MAL-activator (GENE 3). Four of these loci have been mapped and each is located at or near the telomere of a different chromosome. We compare the physical structure of the MAL loci and their flanking sequences. The MAL loci were shown to be both structurally and functionally homologous throughout an approximately 9.0-kb region. The orientation of the MAL loci was determined to be: CENTROMERE . . . GENE 3-GENE 1-GENE 2 . . . TELOMERE. Telomere-adjacent sequences were found flanking GENE 2 of the MAL1, MAL3 and MAL6 loci. No common repeated elements were found on the centromere-proximal side of all the MAL1, loci. These results suggest that, during the evolution of this polygenic family, the MAL loci translocated to different chromosomes via a mechanism that involved the rearrangement(s) of chromosome termini.
Asunto(s)
Proteínas Fúngicas/genética , Genes Fúngicos , Proteínas de Transporte de Membrana/genética , Familia de Multigenes , Saccharomyces cerevisiae/genética , Factores de Transcripción/genética , alfa-Glucosidasas/genética , Mapeo Cromosómico , Productos del Gen tat , Genes , Proteínas de Transporte de Monosacáridos , Filogenia , Saccharomyces cerevisiae/enzimología , Homología de Secuencia de Ácido NucleicoRESUMEN
Maltose fermentation in Saccharomyces carlsbergensis is dependent upon the MAL6 locus. This complex locus is composed of the MAL61 and MAL62 genes, which encode maltose permease and maltase, respectively, and a third gene, MAL63, which codes for a trans-acting positive regulatory product. In wild-type strains, expression of the MAL61 and MAL62 mRNAs and proteins is induced by maltose and induction is dependent upon the MAL63 gene. Mutants constitutively expressing the MAL61 and MAL62 gene products have been isolated in mal63 backgrounds, and the mutations which have been analyzed map to a fourth MAL6-linked gene, MAL64. Cloning and characterization of this new gene are described in this report. The results revealed that the MAL64-C alleles present in constitutive strains encode a trans-acting positive function required for constitutive expression of the MAL61 and MAL62 gene products. In inducible strains, the MAL64 gene is dispensable, as deletion of the gene had no effect on maltose fermentation or maltose-regulated induction. MAL64 encoded transcripts of 2.0 and 1.4 kilobase pairs. While both MAL64 mRNAs were constitutively expressed in constitutive strains, they were maltose inducible in wild-type strains and induction was dependent upon the MAL63 gene. The MAL63 and MAL64 genes are at least partially structurally homologous, suggesting that they control MAL61 and MAL62 transcript accumulation by similar mechanisms.