RESUMEN
This article briefly outlines the proposed national epilepsy control program. The content of the article is based on four meetings held by invitation of the Ministry of Health. Invitees by ministry - Drs. D. C. Jain, M. Gourie Devi, V. Saxena, S. Jain, P. Satish. Chandra, M. Gupta, K. Bala, V. Puri, K. S. Anand, S. Gulati, S. Johri, P. S. Chandra, M. Behari, K. Radhakrishnan, D. Bachani. Presentations were made by Dr. M. Tripathi.The program will involve all neurologists across the country in teaching and training at state levels and a central monitoring committee.
RESUMEN
AIMS: To carry out a retrospective pharmacoeconomic analysis of the impact of therapeutic drug monitoring (TDM) in adult patients with generalized tonic-clonic epilepsy in an academic, non profit making organization. METHODS: Twenty-five patients who had undergone TDM were compared with 25 age, disease and duration of drug therapy matched controls who had not undergone TDM. Only direct costs were calculated. These included cost to the hospital of providing the TDM service, cost to the hospital per seizure saved, and cost to the patient per seizure saved. RESULTS: Patients undergoing TDM had much more effective seizure control (P = 0.00032, OR 4.846, 95% confidence interval 1.29,18.3), fewer adverse events, better earning and were more likely to be married than the control group. CONCLUSIONS: In patients with adult onset epilepsy, a minimum of two drug estimations per year offers significant benefit in terms of better seizure control, fewer adverse events and greater chances of remission.
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Monitoreo de Drogas/economía , Epilepsia Tónico-Clónica/tratamiento farmacológico , Adolescente , Adulto , Análisis Costo-Beneficio , Costos y Análisis de Costo , Quimioterapia/economía , Epilepsia Tónico-Clónica/complicaciones , Epilepsia Tónico-Clónica/economía , Femenino , Hospitalización/economía , Humanos , Masculino , Estudios Retrospectivos , Convulsiones/economía , Convulsiones/terapia , Encuestas y CuestionariosRESUMEN
Childhood absence epilepsy (CAE) is one of the most common epilepsies in children. At least four phenotypic subcategories of CAE have been proposed. Among them, a subtype persisting with tonic-clonic seizures has been mapped to 8q24 (ECA1 MIM 600131). By constructing a physical map for the 8q24 region, we recently narrowed the ECA1 locus to a 1.5-Mb region. In the present communication, we show that T-STAR gene is located within the ECA1 region. T-STAR is a novel member of STAR (for signal transduction and activation of RNA) family, and is predicted to encode a spermatogenesis related RNA-binding protein. T-STAR is located within the markers D8S2049 and D8S1753 and its complete coding region spans nine exons. In addition to its known expression in testis, moderate level of transcripts for T-STAR gene was detected in brain, heart and is highly abundant in skeletal muscle. Mutational analysis for the T-SATR gene in CAE families did not show any sequence variation in the coding region, and this suggests that the T-STAR gene is not involved in the pathogenesis of persisting CAE. However, genomic organization of T-STAR gene characterized in the present report might help in understanding the biological functions of T-STAR as well as its suspected involvement in other disorders mapped on this region.
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Mapeo Cromosómico , Cromosomas Humanos Par 8/genética , Análisis Mutacional de ADN , Epilepsia Tipo Ausencia/genética , Proteínas de Unión al ARN/genética , Secuencia de Bases/genética , Northern Blotting , Niño , Expresión Génica , Genoma , Humanos , Datos de Secuencia Molecular , ARN/metabolismo , Distribución TisularAsunto(s)
Alopecia/inducido químicamente , Anticonvulsivantes/efectos adversos , Lupus Eritematoso Cutáneo/inducido químicamente , Fenitoína/efectos adversos , Adulto , Anticonvulsivantes/uso terapéutico , Estudios de Seguimiento , Humanos , Masculino , Fenitoína/uso terapéutico , Medición de Riesgo , Convulsiones/diagnóstico , Convulsiones/tratamiento farmacológicoRESUMEN
Childhood absence epilepsy (CAE), one of the common idiopathic generalized epilepsies, accounts for 8 to 15% of all childhood epilepsies. Inherited as an autosomal dominant trait, frequent absence attacks start in early or midchildhood and disappear by 30 years of age or may persist through life. Recently, we mapped the locus for CAE persisting with tonic-clonic seizures to chromosome 8q24 (ECA1) by genetic linkage analysis. As a further step in the identification of the ECA1 gene, we constructed a bacterial artificial chromosome- and yeast artificial chromosome-based physical map for the 8q24 region, spanning about 3 Mb between D8S1710 and D8S523. Accurately ordered STS markers within the physical map aided in the analysis of haplotypes and recombinations and reduced the ECA1 region to 1.5 Mb flanked by D8S554 and D8S502. Pairwise analysis in six families confirmed linkage with a pooled lod score of 4.10 (θ = 0) at D8S534. The sequence-ready physical map as well as the narrowed candidate region described here should contribute to the identification of the ECA1 gene.
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Cromosomas Humanos Par 8 , Epilepsia Tipo Ausencia/genética , Secuencia de Bases , Niño , Mapeo Cromosómico , Cromosomas Artificiales Bacterianos , Cromosomas Artificiales de Levadura , Cartilla de ADN , Epilepsia Tónico-Clónica/genética , Femenino , Biblioteca de Genes , Marcadores Genéticos , Genotipo , Humanos , Masculino , Datos de Secuencia Molecular , LinajeRESUMEN
Childhood absence epilepsy (CAE), one of the most common epilepsies in children, is genetically and phenotypically heterogeneous. One of the genes responsible for human CAE associated with tonic-clonic seizures has been mapped to chromosome band 8q24 by genetic linkage analysis and is termed ECA1. Recently, we isolated and mapped the JRK/JH8 gene, a human homologue of the mouse epilepsy gene, jerky, on 8q24. The epilepsy phenotype of the mice with inactivated jerky gene as well as its chromosomal localization proposed JRK/JH8 as a prominent candidate for the CAE gene. To confirm whether the JRK/JH8 gene is responsible for ECA1, we performed mutational analyses in the coding region of JRK/JH8 in two CAE families mapped on 8q24, using heteroduplex and direct sequencing methods. We identified seven nucleotide changes, two of which lead to amino acid substitutions. However, these changes did not co-segregate with the disease phenotype. In addition, we redefined the location of JRK/JH8 to be more than 4 Mb distant from D8S502 and ECA1. Thus, negative results of mutation analyses and detailed physical mapping exclude JRK/JH8 as the ECA1 gene.
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Cromosomas Humanos Par 8/genética , Análisis Mutacional de ADN , Epilepsia Tipo Ausencia/genética , Animales , Mapeo Cromosómico , Cartilla de ADN , Genoma , Análisis Heterodúplex , Humanos , Ratones , Ratones Mutantes Neurológicos , Homología de Secuencia de Ácido NucleicoRESUMEN
31 patients of multiple sclerosis (MS) diagnosed in the last six years in a large teaching hospital were reviewed. The hospital incidence of 0.85% of total admissions in neurology unit in western India is comparable to the series from other parts of India. The mean age at onset was slightly lower compared to other series. The female preponderence was noted in addition to higher incidence of Devic's syndrome. Visual loss (47%) and motor weakness (27%) were the commonest presenting symptoms. The clinical pattern was more similar to Asian series of MS than the western series. All patients underwent magnetic resonance imaging (MRI) scan. 24 out of 25 MRI of Brain and 15 out of 16 MRI of spine were abnormal. CSF immuno-globulins were raised in 80% of patients who underwent CSF study. The data has been compared with other Indian, Asian and Western series.
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Imagen por Resonancia Magnética , Esclerosis Múltiple/diagnóstico por imagen , Tomografía Computarizada por Rayos X , Adolescente , Adulto , Niño , Potenciales Evocados Auditivos del Tronco Encefálico , Potenciales Evocados Somatosensoriales , Potenciales Evocados Visuales , Femenino , Humanos , India , Masculino , Persona de Mediana Edad , Esclerosis Múltiple/fisiopatologíaRESUMEN
Two adult males were admitted with acute are flexic quadriplegia and bifacial and bulbar weakness 2 weeks after an acute episode of malaria, one due to Plasmodium falciparum infection (patient 1) and the other due to Plasmodium vivax (patient 2). Cerebrospinal fluid analysis and nerve conduction studies confirmed the diagnosis of Guillain-Barre syndrome (GBS). Patient 1 progressed to develop respiratory paralysis and required mechanical ventilation. He received intravenous immunoglobulins for the GBS and made a complete recovery in 6 weeks. A review of 11 cases of GBS (nine previously reported and the present two) revealed that eight patients had preceding falciparum malaria and three had vivax infection. All but two patients had distal symmetric sensory deficits. Paralysis was mild in seven cases (three due to P. vivax and four due to P. falciparum) and recovered completely in 2-6 weeks without any specific treatment. Four patients with falciparum malaria developed severe paralysis with respiratory failure, and three patients died. One patient who received intravenous immunoglobulins recovered completely (patient 1 in this report).
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Malaria/complicaciones , Polirradiculoneuropatía/etiología , Adulto , Humanos , Masculino , Persona de Mediana EdadAsunto(s)
Anticonvulsivantes/efectos adversos , Epilepsia/tratamiento farmacológico , Medicina Ayurvédica , Charlatanería , Adolescente , Adulto , Anticonvulsivantes/administración & dosificación , Relación Dosis-Respuesta a Droga , Quimioterapia Combinada , Humanos , Masculino , Fenobarbital/administración & dosificación , Fenobarbital/efectos adversos , Fenitoína/administración & dosificación , Fenitoína/efectos adversosAsunto(s)
Neoplasias Encefálicas/diagnóstico , Epilepsia Refleja/etiología , Luz/efectos adversos , Teratoma/diagnóstico , Adulto , Anticonvulsivantes/administración & dosificación , Neoplasias Encefálicas/complicaciones , Neoplasias Encefálicas/cirugía , Carbamazepina/administración & dosificación , Diagnóstico Diferencial , Epilepsia Refleja/diagnóstico , Epilepsia Refleja/tratamiento farmacológico , Estudios de Seguimiento , Humanos , Imagen por Resonancia Magnética , Teratoma/complicaciones , Teratoma/cirugía , Tomografía Computarizada por Rayos X , Resultado del TratamientoRESUMEN
Childhood absence epilepsy (CAE), a common form of idiopathic generalized epilepsy, accounts for 5%-15% of childhood epilepsies. To map the chromosomal locus of persisting CAE, we studied the clinical and electroencephalographic traits of 78 members of a five-generation family from Bombay, India. The model-free affected-pedigree member method was used during initial screening with chromosome 6p, 8q, and 1p microsatellites, and only individuals with absence seizures and/or electroencephalogram 3-4-Hz spike- and multispike-slow wave complexes were considered to be affected. Significant P values of .00000-.02 for several markers on 8q were obtained. Two-point linkage analysis, assuming autosomal dominant inheritance with 50% penetrance, yielded a maximum LOD score (Zmax) of 3.6 for D8S502. No other locus in the genome achieved a significant Zmax. For five smaller multiplex families, summed Zmax was 2.4 for D8S537 and 1.7 for D8S1761. Haplotypes composed of the same 8q24 microsatellites segregated with affected members of the large family from India and with all five smaller families. Recombinations positioned the CAE gene in a 3.2-cM interval.
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Cromosomas Humanos Par 8 , Electroencefalografía , Epilepsia Tónico-Clónica/genética , Convulsiones/genética , California , Niño , Mapeo Cromosómico , Epilepsia Tónico-Clónica/etnología , Femenino , Ligamiento Genético , Genotipo , Haplotipos , Humanos , India/etnología , Escala de Lod , Masculino , Linaje , Recombinación Genética , Arabia Saudita , Convulsiones/etnología , EspañaAsunto(s)
Hemorragia Cerebral/etiología , Malformaciones Arteriovenosas Intracraneales/complicaciones , Bulbo Raquídeo/irrigación sanguínea , Adulto , Angiografía Cerebral , Arterias Cerebrales/anomalías , Hemorragia Cerebral/diagnóstico , Venas Cerebrales/anomalías , Humanos , Malformaciones Arteriovenosas Intracraneales/diagnóstico , Imagen por Resonancia Magnética , Masculino , Bulbo Raquídeo/patologíaAsunto(s)
Acatisia Inducida por Medicamentos/etiología , Antidiscinéticos/efectos adversos , Antidepresivos/efectos adversos , Trastorno Bipolar/tratamiento farmacológico , Haloperidol/efectos adversos , Carbonato de Litio/efectos adversos , Adulto , Diarrea/inducido químicamente , Quimioterapia Combinada , Femenino , HumanosRESUMEN
A seventeen year old male, who presented with progressive behavioral abnormalities, mental deterioration, unsteadiness, myoclonic jerks and generalized tonic-clonic seizures is described. CSF and serum VDRL were positive as also his mother's TPHA. The EEG was consistent with myoclonic jerks.
RESUMEN
Poor patient compliance is one of the major causes of non responsiveness to antiepileptic drug therapy. Compliance is mostly assessed by self reporting, pill counting and plasma drug level estimation. However, none of them is fool proof. Subtherapeutic plasma drug levels can be due to poor compliance or need for higher dosage. Therefore, in the present study, 20 adult non responsive epileptic patients showing subtherapeutic plasma phenytoin levels inspite of receiving standard phenytoin therapy and history of good compliance were admitted in the clinical pharmacology ward and received supervised drug treatment for five days after which plasma phenytoin levels in 14 patients increased to therapeutic range. All except one (i.e. 9 out of 10) patients showing phenytoin levels < 5 ug/ml inspite of phenytoin dosage of > 300 mg/d and history of good compliance were found to be noncompliant. Hence adult patient receiving greater than or equal to 300 mg/day phenytion and showing phenytoin levels less than or equal to 5 ug/ml should be investigated for possible noncompliance before altering their dosage schedules.
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Epilepsia Tónico-Clónica/tratamiento farmacológico , Cooperación del Paciente , Fenitoína/uso terapéutico , Adolescente , Adulto , Humanos , Masculino , Persona de Mediana Edad , Fenitoína/sangreRESUMEN
Fifty-four consecutively referred patients with uncontrolled epilepsy were subjected to Therapeutic Drug Monitoring on an out patient basis. Regular 2 weekly follow up for a minimum period of 2 months was done, after altering the drug dosage and bringing plasma level(s) within therapeutic range. Plasma levels of Phenobarbitone, Phenytoin and Carbamezepine were done by High Pressure Liquid Chromatography. Eventually, 24 patients were controlled and 30 remained uncontrolled. Significant differences between these 2 groups were found, as regards, duration of epilepsy (p < 0.01), associated mental retardation (p < 0.02), initial carbamazepine dosage and plasma levels in patients on carbamazepine montherapy (p < 0.02 and P < 0.01, respectively) and final phenytoin plasma levels in patients on combined therapy with phenobarbitone and phenytoin (p < 0.05). This study emphasizes the importance of early diagnosis and treatment of epilepsy with the help of plasma level monitoring of anti-epileptic drugs.