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RATIONALE: Psychiatric comorbidities are highly prevalent in epilepsy, adding an important burden to the disease and profoundly affecting the quality of life of these individuals. Patients with temporal lobe epilepsy (TLE) are especially at risk to develop depression and several lines of evidence suggest that the association of depression with epilepsy might be related to common biological substrates. In this study, we test whether NTRK2 allele variants are associated with mood disorders or depressive disorders in patients with TLE. METHODS: An association study of 163 patients with TLE. The NTRK2 variants studied were rs1867283, rs10868235, rs1147198, rs11140800, rs1187286, rs2289656, rs1624327, rs1443445, rs3780645, and rs2378672. All patients were submitted to the Structured Clinical Interview for DSM-IV (SCID) and epilepsy patients with mood disorders or depressive disorders were compared to epilepsy patients without mood disorders or depressive disorders. RESULTS: In our TLE cohort, 76 patients (46.6%) showed mood disorders. After logistic regression, independent risk factors for mood disorders in TLE were female sex, presence of concomitant anxiety disorders, and genetic variations in rs1867283 and rs10868235 NTRK2 variants. Depressive disorders accounted for this results and independent variables associated with depressive disorders in TLE were female sex (OR=2.59; 95%CI=1.15-5.82; p=0.021), presence of concomitant anxiety disorders (OR=3.72; 95%CI=1.71-8.06; p=0.001) or psychotic disorders (OR=3.86; 95%CI=1.12-13.25; p=0.032), A/A genotype in the rs1867283 NTRK2 gene (OR=3.06; 95%CI=1.25-7.50; p=0.015) and C/C genotype in the rs10868235 NTRK2 gene (OR=3.54; 1.55-8.08; p=0.003). Similarly, these genotypes also remained independently and significantly associated with depressive disorders when patients with depressive disorders were compared to TLE patients without any psychiatric comorbidity. CONCLUSION: In the present study, female sex, presence of concomitant anxiety or psychotic disorders, and specific allelic variations in the NTRK2 gene were independently associated with mood disorders or depressive disorders in TLE. If our results were confirmed, variants in the NTRK2 gene could be considered as risk factors or biomarkers for depressive disorders in patients with TLE.
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Trastorno Depresivo/genética , Trastorno Depresivo/psicología , Epilepsia del Lóbulo Temporal/genética , Epilepsia del Lóbulo Temporal/psicología , Variación Genética/genética , Glicoproteínas de Membrana/genética , Receptor trkB/genética , Adulto , Estudios de Cohortes , Trastorno Depresivo/diagnóstico , Manual Diagnóstico y Estadístico de los Trastornos Mentales , Epilepsia del Lóbulo Temporal/diagnóstico , Femenino , Estudios de Asociación Genética/métodos , Humanos , Masculino , Persona de Mediana Edad , Trastornos del Humor/diagnóstico , Trastornos del Humor/genética , Trastornos del Humor/psicología , Calidad de Vida/psicología , Estudios Retrospectivos , Factores SexualesRESUMEN
PURPOSE: Drug-resistant epilepsy affects a substantial proportion (30-40 %) of patients with epilepsy, often necessitating video-electroencephalography (video-EEG) monitoring. In 2016, Sauro et al. introduced a set of measures aimed at improving the quality and safety indicators reported in video-EEG evaluations. This study aims to report our experience with the implementation of these measures. METHODS: We analyzed video-EEG data regarding quality and safty from a period spanning January 2016 to January 2018, involving a total of 101 patients monitored in our video-EEG unit. RESULTS: Among the patients included in the study, a definitive diagnosis was attainable for 92.1 %, with 36.6 % experiencing a change in diagnosis and 65.3 % undergoing a change in treatment as a result of the video-EEG evaluation. Additionally, the referral question was fully addressed in 60.4 % of admissions, and video-EEG was considered to be very useful or extremely useful in 66.4 % of cases. Adverse events were observed in 26.7 % of patients, with the most common being the progression of focal seizures to bilateral tonic-clonic seizures (11.9 %) and the occurrence of seizure clusters (5.9 %). CONCLUSION: Our findings support the implementation of Sauro et al.'s set of measures, as they provide valuable criteria for improving the reporting of video-EEG quality and safety indicators. However, challenges may arise due to variations in terminology across studies and the lack of standardized criteria for defining essential questions in video-EEG evaluations. Further research utilizing these measures is necessary to enhance their effectiveness and encourage consistent reporting of results from epilepsy monitoring units.
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Epilepsia , Indicadores de Calidad de la Atención de Salud , Humanos , Brasil , Grabación en Video/métodos , Convulsiones/diagnóstico , Convulsiones/etiología , Epilepsia/diagnóstico , Epilepsia/etiología , Monitoreo Fisiológico/métodos , Electroencefalografía/métodosRESUMEN
BACKGROUND: Autoimmune encephalitis (AE) consists of a group of acquired diseases that affect the central nervous system. A myriad of phenotypes may be present at the onset. Due to the heterogeneity of clinical presentations, it is difficult to achieve uniformity for the diagnostic and therapeutic processes and follow-up strategies. OBJECTIVE: To describe a series of patients diagnosed with AE in a resource-limited public hospital in southern Brazil and to analyze therapeutics and outcomes. METHODS: We retrospectively reviewed the electronic medical records of patients diagnosed with AE at the Hospital de Clínicas de Porto Alegre from 2014 to 2022. Data collected included clinical presentation, neuroimaging, cerebrospinal fluid testings, electroencephalogram, autoantibodies, treatments, outcomes, follow-up time, degree of neurological impairment, and mortality. RESULTS: Data from 17 patients were retrieved. Eleven cases were classified as definite AE and 6 as possible AE. Autoantibodies were identified in 9 patients. Timing for diagnosis was impacted by the high costs associated with autoantibody testing. Most patients became functionally dependent (82.4%) and most survivors remained with autoimmune-associated epilepsy (75%). Five patients died during hospitalization, and one after a 26-month of follow-up. CONCLUSION: In this resource-limited hospital, patients with AE had a worse clinical outcome than that previously described in the literature. Development of epilepsy during follow-up and mortality were greater, whilst functional outcome was inferior. Autoantibody testing was initially denied in most patients, which impacted the definitive diagnosis and the use of second-line therapies.
ANTECEDENTES: A encefalite autoimune (EA) consiste em um grupo de doenças adquiridas que afetam o sistema nervoso central. OBJETIVO: Descrever uma série de pacientes diagnosticados com EA em um contexto de atenção terciária à saúde com recursos limitados e analisar a terapêutica e os resultados. MéTODOS: Revisamos retrospectivamente os prontuários eletrônicos de pacientes diagnosticados com EA no Hospital de Clínicas de Porto Alegre de 2014 a 2022. Os dados coletados incluíram apresentação clínica, neuroimagem, exames de líquido cefalorraquidiano, eletroencefalograma, autoanticorpos, tratamentos, resultados, tempo de acompanhamento, grau de comprometimento neurológico e mortalidade. RESULTADOS: Dados de 17 pacientes foram coletados. Onze casos foram classificados como EA definitivo e seis como EA possível. Autoanticorpos foram identificados em nove pacientes. O tempo para o diagnóstico foi afetado pelos altos custos associados ao teste de autoanticorpos. A maioria dos pacientes tornou-se funcionalmente dependente (82,4%), e a maioria dos sobreviventes permaneceu com epilepsia autoimune associada (75%). Cinco pacientes faleceram durante a internação, e um após 26 meses de seguimento. CONCLUSãO: No hospital em questão, os pacientes com EA tiveram um desfecho clínico pior do que o previamente descrito na literatura. O desenvolvimento de epilepsia durante o acompanhamento e a mortalidade foram maiores, enquanto o desfecho funcional foi inferior. Os testes de autoanticorpos foram inicialmente negados para a maioria dos pacientes, o que impactou o diagnóstico definitivo e o uso de terapias de segunda linha.
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Enfermedades Autoinmunes del Sistema Nervioso , Encefalitis , Epilepsia , Enfermedad de Hashimoto , Humanos , Estudios Retrospectivos , Salud Pública , Enfermedad de Hashimoto/diagnóstico , Enfermedad de Hashimoto/terapia , AutoanticuerposRESUMEN
In a cross-sectional study, we evaluated the impact of the chronic use of benzodiazepines (BDZ) prescribed for seizure control on the anxiety levels of patients with temporal lobe epilepsy. We assessed the anxiety level of 99 patients with temporal lobe epilepsy with (n=15) or without (n=84) BDZ for seizure control, using the Beck Anxiety Inventory (BAI) or the Hamilton Anxiety Scale (HAMA). Independent risk factors for high anxiety levels were being a female patient (O.R.=2.93; 95% C.I.=1.05-8.16; p=0.039), having uncontrolled seizures (O.R.=4.49; 95% C.I.=1.66-12.11; p=0.003) and having a history of a psychiatric disorder (O.R.=4.46; 95% C.I.=1.63-12.21; p=0.004). However, there were no statistically significant differences in anxiety levels between patients utilizing or not utilizing BDZ prescribed exclusively for seizure control. We concluded that in our study, patients with chronic use of BDZ prescribed exclusively for seizure control showed similar anxiety levels than patients who were not using this class of drug. Additional studies are needed to define better strategies for the treatment of anxiety disorders in epilepsy.
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Ansiolíticos/uso terapéutico , Ansiedad/tratamiento farmacológico , Ansiedad/etiología , Benzodiazepinas/uso terapéutico , Epilepsia/complicaciones , Adulto , Anciano , Anticonvulsivantes/uso terapéutico , Estudios Transversales , Electroencefalografía , Epilepsia/tratamiento farmacológico , Femenino , Humanos , Masculino , Persona de Mediana Edad , Escalas de Valoración Psiquiátrica , Resultado del TratamientoRESUMEN
We conducted a double-blind randomized clinical trial in order to examine the effects and the safety of home-based transcranial direct current stimulation (tDCS) on depressive and anxious symptoms of patients with temporal lobe epilepsy (TLE). We evaluated 26 adults with TLE and depressive symptoms randomized into two different groups: active tDCS (tDCSa) and Sham (tDCSs). The patients were first submitted to 20 sessions of tDCS for 20 min daily, 5 days a week for 4 weeks and then received a maintenance tDCS application in the research laboratory once a week for 3 weeks. The intensity of the current was 2 mA, applied bilaterally over the dorsolateral prefrontal cortex, with the anode positioned on the left side and the cathode on the right side. Participants were evaluated on days 1, 15, 30, and 60 of the study using the Beck Depression Inventory II (BDI). A follow-up evaluation was performed 1 year after the end of treatment. They were also evaluated for quality of life and for anxious symptoms as secondary outcomes. The groups did not differ in clinical, socioeconomic or psychometric characteristics at the initial assessment. There was no statistically significant difference between groups regarding reported adverse effects, seizure frequency or dropouts. On average, between the 1st and 60th day, the BDI score decreased by 43.93% in the active group and by 44.67% in the Sham group (ΔBDIfinal - initial = -12.54 vs. -12.20, p = 0.68). The similar improvement in depressive symptoms observed in both groups was attributed to placebo effect and interaction between participants and research group and not to tDCS intervention per se. In our study, tDCS was safe and well tolerated, but it was not effective in reducing depressive or anxiety symptoms in patients with temporal lobe epilepsy. Clinical Trial Registration: [ClinicalTrials.gov], identifier [NCT03871842].
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BACKGROUND: Although many studies have demonstrated a high prevalence of psychiatric disorders in epileptic patients, most have used unstructured psychiatric interviews for diagnosis, which may lead to significant differences in results. Here we present a study evaluating the prevalence of major psychiatric comorbidities in a cohort of South Brazilian patients with temporal lobe epilepsy using a structured clinical interview. METHODS: Neuropsychiatric symptoms were analyzed in 98 patients (39 men and 59 women) with temporal lobe epilepsy. Patient mean age was 43 years old, and mean duration of epilepsy was 25 years. Patients were diagnosed according to the ILAE Classification of Epileptic Syndromes using clinical, EEG, and neuroimaging criteria. All patients participated in the Structured Clinical Interview for DSM-IV (SCID). RESULTS: Fifty-three patients (54.1%) presented major psychiatric comorbidities. Mood disorders were observed in 42 patients (42.9%), the most common being neuropsychiatric disorders. Anxiety disorders were the second most frequent disorders, observed in 18 patients (18.4%). Psychotic disorders and substance abuse were each observed in six patients (6.1%). There were no clinical variables regarding epilepsy characteristics (age of onset, duration, response to antiepileptic drugs) and no MRI features associated with psychiatric disorders. A seven-fold increased risk of mood disorders was identified in patients with inter-ictal EEG abnormalities associated with the left hemisphere. CONCLUSION: Relative to previous reports, we identify a high prevalence of psychiatric disorders in TLE patients, although our data is similar to that observed in other studies which have used similar structured interviews in populations of epileptic patients attending tertiary centres. The wide variation in percentages is probably attributable to the different patient groups investigated and to the even greater variety of diagnostic methods. Structured psychiatric interviews may contribute to a better evaluation of the true prevalence of psychiatric comorbidities in temporal lobe epilepsy.
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Trastornos de Ansiedad/epidemiología , Electroencefalografía , Epilepsia del Lóbulo Temporal/epidemiología , Entrevista Psicológica , Imagen por Resonancia Magnética , Trastornos del Humor/epidemiología , Adulto , Trastornos de Ansiedad/diagnóstico , Trastornos de Ansiedad/patología , Brasil/epidemiología , Estudios de Cohortes , Comorbilidad , Manual Diagnóstico y Estadístico de los Trastornos Mentales , Epilepsia del Lóbulo Temporal/diagnóstico , Epilepsia del Lóbulo Temporal/fisiopatología , Femenino , Humanos , Masculino , Trastornos Mentales/epidemiología , Persona de Mediana Edad , Trastornos del Humor/diagnóstico , Trastornos del Humor/patología , PrevalenciaRESUMEN
Abstract Background Autoimmune encephalitis (AE) consists of a group of acquired diseases that affect the central nervous system. A myriad of phenotypes may be present at the onset. Due to the heterogeneity of clinical presentations, it is difficult to achieve uniformity for the diagnostic and therapeutic processes and follow-up strategies. Objective To describe a series of patients diagnosed with AE in a resource-limited public hospital in southern Brazil and to analyze therapeutics and outcomes. Methods We retrospectively reviewed the electronic medical records of patients diagnosed with AE at the Hospital de Clínicas de Porto Alegre from 2014 to 2022. Data collected included clinical presentation, neuroimaging, cerebrospinal fluid testings, electroencephalogram, autoantibodies, treatments, outcomes, follow-up time, degree of neurological impairment, and mortality. Results Data from 17 patients were retrieved. Eleven cases were classified as definite AE and 6 as possible AE. Autoantibodies were identified in 9 patients. Timing for diagnosis was impacted by the high costs associated with autoantibody testing. Most patients became functionally dependent (82.4%) and most survivors remained with autoimmune-associated epilepsy (75%). Five patients died during hospitalization, and one after a 26-month of follow-up. Conclusion In this resource-limited hospital, patients with AE had a worse clinical outcome than that previously described in the literature. Development of epilepsy during follow-up and mortality were greater, whilst functional outcome was inferior. Autoantibody testing was initially denied in most patients, which impacted the definitive diagnosis and the use of second-line therapies.
Resumo Antecedentes A encefalite autoimune (EA) consiste em um grupo de doenças adquiridas que afetam o sistema nervoso central. Objetivo Descrever uma série de pacientes diagnosticados com EA em um contexto de atenção terciária à saúde com recursos limitados e analisar a terapêutica e os resultados. Métodos Revisamos retrospectivamente os prontuários eletrônicos de pacientes diagnosticados com EA no Hospital de Clínicas de Porto Alegre de 2014 a 2022. Os dados coletados incluíram apresentação clínica, neuroimagem, exames de líquido cefalorraquidiano, eletroencefalograma, autoanticorpos, tratamentos, resultados, tempo de acompanhamento, grau de comprometimento neurológico e mortalidade. Resultados Dados de 17 pacientes foram coletados. Onze casos foram classificados como EA definitivo e seis como EA possível. Autoanticorpos foram identificados em nove pacientes. O tempo para o diagnóstico foi afetado pelos altos custos associados ao teste de autoanticorpos. A maioria dos pacientes tornou-se funcionalmente dependente (82,4%), e a maioria dos sobreviventes permaneceu com epilepsia autoimune associada (75%). Cinco pacientes faleceram durante a internação, e um após 26 meses de seguimento. Conclusão No hospital em questão, os pacientes com EA tiveram um desfecho clínico pior do que o previamente descrito na literatura. O desenvolvimento de epilepsia durante o acompanhamento e a mortalidade foram maiores, enquanto o desfecho funcional foi inferior. Os testes de autoanticorpos foram inicialmente negados para a maioria dos pacientes, o que impactou o diagnóstico definitivo e o uso de terapias de segunda linha.
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INTRODUCTION: Metabolic syndrome (MetS) is an emergent problem among patients with epilepsy. Here, we evaluate and compare the diagnostic yield and accuracy of different MetS criteria among adult patients with epilepsy to further explore the best strategy for diagnosis of MetS among patients with epilepsy. MATERIALS AND METHODS: Ninety-five epileptic adults from a tertiary epilepsy reference center were prospectively recruited over 22 weeks in a cross-sectional study. MetS was defined according to five international criteria used for the diagnosis of the condition [ATP3, American Association of Clinical Endocrinologists (AACE), International Diabetes Federation (IDF), AHA/NHLBI, and harmonized criteria]. Sensitivity, specificity, positive and negative predictive values (NPVs), and area under the receiver operating characteristic curve (ROC) curve were estimated for each criterion. RESULTS: In our sample, adult patients with epilepsy showed a high prevalence of obesity, hypertension, and diabetes. However, the prevalence of MetS was significantly different according to each criterion used, ranging from 33.7%, as defined by AACE, to 49.4%, as defined by the harmonized criteria (p < 0.005). IDF criteria showed the highest sensitivity [S = 95.5% (95% CI 84.5-99.4), p < 0.05] and AACE criteria showed the lowest sensitivity and NPV [S = 68.2% (95% CI 52.4-81.4), p < 0.05; NPV = 75.8% (95% CI 62.3-86.1), p < 0.05]. ROC curve for all criteria studied showed that area under curve (AUC) for IDF criterion was 0.966, and it was not different from AUC of harmonized criterion (p = 0.092) that was used as reference. On the other hand, the use of the other three criteria for MetS resulted in significantly lower performance, with AUC for AHA/NHLBI = 0.920 (p = 0.0147), NCEP/ATP3 = 0.898 (p = 0.0067), AACE = 0.830 (p = 0.00059). CONCLUSION: Our findings suggest that MetS might be highly prevalent among adult patients with epilepsy. Despite significant variations in the yield of different criteria, the harmonized definition produced the highest prevalence rates and perhaps should be preferred. Correct evaluation of these patients might improve the rates of detection of MetS and foster primary prevention of cardiovascular events in this population.
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OBJECTIVE: The NTRK2 gene encodes a member of the neurotrophic tyrosine kinase receptor family known as TrkB. It is a membrane-associated receptor with signaling and cellular differentiation properties that has been involved in neuropsychiatric disorders, including epilepsy. We report here the frequencies of NTRK2 allele variants in patients with temporal lobe epilepsy (TLE) compared to controls without epilepsy and explore the impact of these polymorphisms on major clinical variables in TLE. METHODS: A case-control study comparing the frequencies of the NTRK2 gene polymorphisms beween 198 TLE Caucasian patients and 200 matching controls without epilepsy. In a second step, the impact of allelic variation on major clinical and electroencephalographic epilepsy variables was evaluated in the group of TLE patients. The following polymorphisms were determined by testing different regions of the NTRK2 gene: rs1867283, rs10868235, rs1147198, rs11140800, rs1187286, rs2289656, rs1624327, rs1443445, rs3780645, and rs2378672. To correct for multiple correlations the level of significance was set at p<0.01. RESULTS: Patients with TLE showed a statistical trend for increase of the T/T genotype in rs10868235 compared to control (O.R.=1.90; 95%CI=1.17-3.09; p=0.01). Homozygous patients for the A allele in rs1443445 had earlier mean age at onset of seizures, p=0.009 (mean age of 16.6 versus 22.4years). We also observed that the T allele in rs3780645 was more frequent in patients who needed polytheraphy for seizure control than in patients on monotherapy, (O.R.=4.13; 95%CI=1.68-10.29; p=0.001). This finding may reflect an increased difficulty to obtain seizure control in this group of patients. No additional differences were observed in this study. CONCLUSIONS: Patients with epilepsy showed a trend for a difference in rs10868235 allelic distribution compared to controls without epilepsy. NTRK2 variability influenced age at seizure onset and the pharmacological response to seizure control. As far as we know, this is the first study showing an association between NTKR2 allelic variants in human epilepsy. We believe that further studies in this venue will shade some light on the molecular mechanisms involved in epileptogenesis and in the clinical characteristics of epilepsy.
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Epilepsia del Lóbulo Temporal/genética , Glicoproteínas de Membrana/genética , Polimorfismo de Nucleótido Simple , Receptor trkB/genética , Adulto , Edad de Inicio , Encéfalo/diagnóstico por imagen , Encéfalo/fisiopatología , Estudios de Casos y Controles , Epilepsia Refractaria/genética , Epilepsia Refractaria/fisiopatología , Epilepsia Refractaria/terapia , Electroencefalografía , Epilepsia del Lóbulo Temporal/fisiopatología , Epilepsia del Lóbulo Temporal/terapia , Femenino , Estudios de Asociación Genética , Técnicas de Genotipaje , Humanos , Masculino , Neuroimagen , Fenotipo , Población Blanca/genéticaRESUMEN
OBJECTIVE: Psychiatric comorbidities are frequent in temporal lobe epilepsy (TLE), and symptoms of these comorbidities may be related to epilepsy activity. Here we evaluated interictal EEG activity in TLE patients with or without psychiatric comorbidities. METHODS: A cohort study of 78 patients with TLE, with evaluation of wake/sleep interictal scalp EEG. All subjects were submitted to a psychiatric structured clinical interview (SCID) for the diagnosis of lifetime psychiatric comorbidities. Three major diagnostic categories were studied: mood disorders, anxiety disorders, and psychosis. We then evaluated differences in interictal EEG activity between patients with and without these psychiatric comorbidities. RESULTS: Infrequent EEG interictal spikes, defined as less than one event per minute, were significantly associated with mood disorders in TLE (p=0.02). CONCLUSIONS: Low intensity seizure disorder has been associated with a decrease in interictal EEG discharges and with an increase in psychiatric symptoms in TLE, a phenomenon known as forced normalization. In our study, we observed a low interictal spike frequency on EEG in TLE patients with mood disorders. SIGNIFICANCE: A low spike index might be a neurophysiological marker for depression in temporal lobe epilepsy.
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Ondas Encefálicas/fisiología , Corteza Cerebral/fisiopatología , Epilepsia del Lóbulo Temporal/diagnóstico , Trastornos del Humor/diagnóstico , Adulto , Biomarcadores , Estudios de Cohortes , Comorbilidad , Epilepsia del Lóbulo Temporal/epidemiología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Trastornos del Humor/epidemiologíaRESUMEN
OBJECTIVE: Neuropsychiatric comorbidities are frequent in temporal lobe epilepsy (TLE). It is biologically plausible that alterations in serotonin-related genes may be involved in higher susceptibility to psychiatric disease in these individuals. Here we report results of an association study of serotonin gene polymorphisms and psychiatry comorbidities in TLE. METHODS: Case-control study of 155 patients with temporal lobe epilepsy. We evaluate the influence of 5-HTTLPR and 5-HTTVNTR polymorphisms in the 5-HTT gene and the C-1019G polymorphism in the 5-HT1A gene in psychiatric comorbidities of TLE. RESULTS: After logistic regression, female sex (OR=2.34; 95% CI 1.06-5.17; p=0.035) and the presence of C allele of 5-HT1A C-1019G polymorphism (OR=2.77; 95% CI 1.01-7.63; p=0.048) remained independent risk factors for anxiety disorders in temporal lobe epilepsy. CONCLUSION: C allele of 5-HT1A C-1019G polymorphism might be an independent risk factor for anxiety disorders in temporal lobe epilepsy. We believe that other studies in this venue will shade some light on molecular mechanisms involved in psychiatric comorbidities in epilepsy.
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Epilepsia del Lóbulo Temporal/epidemiología , Epilepsia del Lóbulo Temporal/genética , Trastornos Mentales/epidemiología , Trastornos Mentales/genética , Polimorfismo Genético/genética , Receptor de Serotonina 5-HT1A/genética , Adulto , Estudios de Casos y Controles , Estudios de Cohortes , Comorbilidad , Epilepsia del Lóbulo Temporal/psicología , Femenino , Humanos , Masculino , Trastornos Mentales/psicología , Persona de Mediana Edad , Estudios RetrospectivosRESUMEN
OBJECTIVE: Preclinical and clinical studies have shown that serotonin levels might modulate susceptibility to seizures. Here we evaluated an association between 5HTTLPR and 5HTTVNTR allele variants in serotonin transporter gene and epileptogenesis in temporal lobe epilepsy (TLE). METHODS: A case-control candidate gene study evaluating the frequencies of 5HTTLPR biallelic and 5HTTVNTR allele variants in patients and healthy subjects. Genotypes were grouped according to transcriptional efficiency. Cases were 175 patients with TLE selected from the Epilepsy Outpatient Clinic of Hospital de Clínicas de Porto Alegre, classified according to the electroclinical classification of the ILAE and neuroimaging findings. The control group consisted of 155 healthy unrelated subjects selected from the same population. RESULTS: We observed that less efficient transcriptional genotypes for 5-HTT polymorphisms were more frequent in epileptic patients (O.R.=3.24; 95% C.I.=1.08-9.73; p=0.036). Our results suggest that less efficient transcriptional genotypes for serotonin transporter gene are associated with TLE. CONCLUSION: In this study we observed an association between the presence of 5HTTLPR and 5-HTTVNTR less transcriptional efficient combined genotypes and TLE. Our results suggest that modulation of the serotoninergic system might be implied in epileptogenesis in TLE.
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Región de Flanqueo 5'/genética , Epilepsia del Lóbulo Temporal/genética , Repeticiones de Minisatélite/genética , Polimorfismo de Nucleótido Simple , Proteínas de Transporte de Serotonina en la Membrana Plasmática/genética , Adulto , Alelos , Brasil/epidemiología , Estudios de Casos y Controles , Epilepsia del Lóbulo Temporal/epidemiología , Femenino , Frecuencia de los Genes , Estudios de Asociación Genética , Genotipo , Humanos , Masculino , Mutagénesis Insercional , Eliminación de Secuencia , Proteínas de Transporte de Serotonina en la Membrana Plasmática/fisiología , Transcripción Genética , Adulto JovenRESUMEN
A great prevalence of psychiatric disorders in epilepsy is well demonstrated, although most studies have used unstructured psychiatric interviews for diagnosis. Here we present a study evaluating the prevalence of psychiatric comorbidities in a cohort of Southern Brazilian patients with temporal lobe epilepsy (TLE) using a structured clinical interview. We analyzed 166 patients with TLE regarding neuropsychiatric symptoms through the Structured Clinical Interview for DSM-IV. One hundred-six patients (63.9%) presented psychiatric comorbidities. Mood disorders were observed in 80 patients (48.2%), anxiety disorders in 51 patients (30.7%), psychotic disorders in 14 (8.4%), and substance abuse in 8 patients (4.8%) respectively. Our results agree with literature data where most authors detected mental disorders in 10 to 60% of epileptic patients. This wide variation is probably attributable to different patient groups investigated and to the great variety of diagnostic methods. Structured psychiatric interviews might contribute to a better evaluation of prevalence of psychiatric comorbidities in TLE.
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Trastornos de Ansiedad/epidemiología , Epilepsia del Lóbulo Temporal/epidemiología , Trastornos del Humor/epidemiología , Trastornos Relacionados con Sustancias/epidemiología , Adulto , Anciano , Trastornos de Ansiedad/diagnóstico , Brasil/epidemiología , Estudios de Cohortes , Comorbilidad , Estudios Transversales , Manual Diagnóstico y Estadístico de los Trastornos Mentales , Femenino , Humanos , Entrevista Psicológica , Masculino , Persona de Mediana Edad , Trastornos del Humor/diagnóstico , Prevalencia , Trastornos Relacionados con Sustancias/diagnóstico , Adulto JovenRESUMEN
OBJECTIVE: To report the frequencies of Val66Met polymorphism in patients with temporal lobe epilepsy (TLE) compared to normal controls. We also investigated whether Val66Met promoted differences in major clinical variables of TLE. METHODS: A case-control study comparing the frequencies of Val66Met polymorphism in 101 Caucasian TLE patients and in 104 Caucasian normal matching controls. In the second step, we evaluated the patient group in terms of the major clinical and electrographic variables related to the epileptogenic process. RESULTS: The frequency of Val66Met polymorphism did not differ between epileptic patients and normal controls. Moreover, the Val66Met polymorphisms did not influence age of epilepsy onset, duration of epilepsy, control of seizures, or extension of the irritative zone. Also, the groups did not differ in terms of family history of epilepsy and presence of aura. CONCLUSION: In spite of abundant evidence that Val66Met BDNF polymorphism has an impact on several different neurological or psychiatric disorders, we conclude that a major clinical impact of Val66Met polymorphism as a disease modifier in temporal lobe epilepsy is probably unlikely.
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Factor Neurotrófico Derivado del Encéfalo/genética , Epilepsia del Lóbulo Temporal/genética , Polimorfismo de Nucleótido Simple/genética , Adulto , Edad de Inicio , Estudios de Casos y Controles , Electroencefalografía , Femenino , Frecuencia de los Genes , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Humanos , Masculino , Persona de Mediana EdadRESUMEN
OBJECTIVE: To identify independent risk factors for affective disorders in temporal lobe epilepsy. METHODS: We studied 97 patients with temporal lobe epilepsy (TLE) exploring variables like age, gender, family history of epilepsy and psychiatric disorders, duration of epilepsy, control of seizures, presence of aura and initial precipitant insult, abuse of substances, neuroimaging and EEG features. RESULTS: Forty-one patients (42.3% of the total population) had affective disorders. A positive family history of psychiatric disorders (O.R.=3.8; p=0.003) and interictal EEG epileptiform discharges involving the left temporal lobe (O.R.=2.9; p=0.041) were significantly associated with an increased risk for an affective disorder. These associations remained significant after logistic regression, confirming the independent effects of the risk factors observed. Moreover, a binary logistic regression model obtained was able to correctly predict presence or absence of a life-time affective disorder in 71.1% of patients. CONCLUSION: This study points out that a positive family history of psychiatric disorders and interictal EEG epileptiform discharges involving the left temporal lobe are isolated risk factors for affective disorders in TLE. Our results suggest that biological factors are crucial for affective disorders development in TLE. Further studies are necessary to better specify the genetic and anatomical substracts involved and how they come together to generate affective disorders in those patients.
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Epilepsia del Lóbulo Temporal/complicaciones , Lateralidad Funcional/fisiología , Trastornos del Humor/complicaciones , Adulto , Edad de Inicio , Corteza Cerebral/fisiopatología , Electroencefalografía , Epilepsia del Lóbulo Temporal/genética , Femenino , Humanos , Masculino , Persona de Mediana Edad , Trastornos del Humor/genética , Oportunidad Relativa , Selección de Paciente , Análisis de Regresión , Factores de RiesgoAsunto(s)
Anticonvulsivantes/uso terapéutico , Fructosa/análogos & derivados , Mucolipidosis/tratamiento farmacológico , Neuraminidasa/deficiencia , Estado Epiléptico/tratamiento farmacológico , Adolescente , Femenino , Fructosa/uso terapéutico , Humanos , Mucolipidosis/complicaciones , Estado Epiléptico/complicaciones , Topiramato , Resultado del TratamientoRESUMEN
A great prevalence of psychiatric disorders in epilepsy is well demonstrated, although most studies have used unstructured psychiatric interviews for diagnosis. Here we present a study evaluating the prevalence of psychiatric comorbidities in a cohort of Southern Brazilian patients with temporal lobe epilepsy (TLE) using a structured clinical interview. We analyzed 166 patients with TLE regarding neuropsychiatric symptoms through the Structured Clinical Interview for DSM-IV. One hundred-six patients (63.9 percent) presented psychiatric comorbidities. Mood disorders were observed in 80 patients (48.2 percent), anxiety disorders in 51 patients (30.7 percent), psychotic disorders in 14 (8.4 percent), and substance abuse in 8 patients (4.8 percent) respectively. Our results agree with literature data where most authors detected mental disorders in 10 to 60 percent of epileptic patients. This wide variation is probably attributable to different patient groups investigated and to the great variety of diagnostic methods. Structured psychiatric interviews might contribute to a better evaluation of prevalence of psychiatric comorbidities in TLE.
Embora muitos estudos tenham demonstrado uma alta prevalência de transtornos psiquiátricos em pacientes com epilepsia, a maioria utilizou entrevistas psiquiátricas não-estruturadas para o diagnóstico. Este método pode levar a diferenças significativas nos resultados. Nós estudamos a prevalência de comorbidades psiquiátricas em pacientes com epilepsia do lobo temporal (ELT), utilizando uma entrevista clínica estruturada. Foram estudados 166 pacientes com ELT, aos quais foi aplicada a Entrevista Clínica Estruturada para o DSM-IV (SCID). Cento e seis pacientes (63,9 por cento) apresentaram comorbidades psiquiátricas. Transtornos de humor, observados em 80 pacientes (48,2 por cento), foram o transtorno neuropsiquiátrico mais comum. Transtornos de ansiedade, observados em 51 pacientes (30,7 por cento), foram a segunda comorbidade psiquiátrica mais frequente. Transtornos psicóticos foram encontrados em 14 (8,4 por cento), e abuso de substâncias foram observados em 8 pacientes (4,8 por cento), respectivamente. Nossos resultados estão de acordo com os dados da literatura, que demonstra problemas psiquiátricos em 10-60 por cento dos pacientes com epilepsia. A grande variação dos resultados pode ser atribuída aos diferentes grupos de pacientes estudados e à variabilidade de métodos diagnósticos empregados. Entrevistas psiquiátricas estruturadas podem contribuir para uma avaliação mais adequada da real prevalência de comorbidades psiquiátricas na ELT.
Asunto(s)
Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Adulto Joven , Trastornos de Ansiedad/epidemiología , Epilepsia del Lóbulo Temporal/epidemiología , Trastornos del Humor/epidemiología , Trastornos Relacionados con Sustancias/epidemiología , Trastornos de Ansiedad/diagnóstico , Brasil/epidemiología , Estudios de Cohortes , Comorbilidad , Estudios Transversales , Manual Diagnóstico y Estadístico de los Trastornos Mentales , Entrevista Psicológica , Trastornos del Humor/diagnóstico , Prevalencia , Trastornos Relacionados con Sustancias/diagnósticoRESUMEN
STUDY DESIGN: Two case reports of a choroidal fissure cyst in the temporal horn associated with complex partial seizure. OBJECTIVES: To describe the clinical course, image findings and literature review of choroidal fissure cysts. SUMMARY AND BACKGROUND DATA: there are few reported cases of choroidal fissure cysts. RESULTS: We report two patients with complex partial seizures and temporal choroidal fissure cysts. The seizures were controlled in both patients. CONCLUSION: The choroidal fissure cyst diagnosis must highlight the importance of considering this lesion in the differential diagnosis of temporal lobe cyst and temporal lobe seizure.
DESENHO DO ESTUDO: Dois relatos de caso de cisto de fissura coroidal no corno temporal associado com crise parcial complexa. OBJETIVOS: Descrever o curso clínico, achados radiológicos e fazer uma revisão da literatura a respeito de cistos da fissura coroidal. RESUMO DOS DADOS DA LITERATURA: existem poucos casos descritos de cistos da fissura coroidal. RESULTADOS: Nós descrevemos dois pacientes com crises parciais complexas e cistos de fissura coroidal. As crises foram controladas em ambos os pacientes. CONCLUSÃO: O diagnóstico de cisto da fissura coroidal deve ser levado em conta no diagnóstico diferencial de cistos do lobo temporal e em crises de lobo temporal.
Asunto(s)
Humanos , Epilepsia , Epilepsia del Lóbulo Temporal , QuistesRESUMEN
INTRODUÇÃO: Estima-se que um terço dos casos de pacientes com espectro autista vai apresentar ao menos uma crise epiléptica até a adolescência. Esta associação entre transtornos invasivos do desenvolvimento e epilepsia vem sendo amplamente estudada, mas ainda com inúmeros questionamentos sem resposta na literatura. OBJETIVO: Os autores apresentam o caso de uma criança, com quadro de Transtorno Invasivo do Desenvolvimento - espectro autista - e epilepsia de difícil controle submetida à cirurgia, revisando aspectos fundamentais desta associação. CONCLUSÃO: A partir do caso em questão e de estudos existentes, é pertinente questionar quais são os indícios que nos fazem acreditar que crises epilépticas recorrentes ou uma atividade elétrica anormal sejam responsáveis por alterações cognitivas, de linguagem ou de conduta e qual o tratamento ideal para estas crianças nas quais co-existem os dois diagnósticos.
INTRODUCTION: Some reports have indicated that one third of children with autistic spectrum disorder will present at least one seizure untill early adolescence. The association between autism and epilepsy is recognized but remains unresolved and poorly understood. OBJECTIVE: The authors present a child with autistic spectrum disorder and infantile spasms in the first year of life who underwent resective surgery for intractable epilepsy and discuss aspects of this relationship. CONCLUSION: Despite a growing number of studies involving autism and epilepsy we must point out how is the evidence that recurrent seizures or abnormal electrical activity can cause cognitive, language or behavioral abnormalities and what is the ideal treatment for these children in whom a neurodevelopmental disorder coexists with epilepsy.
Asunto(s)
Niño , Trastorno Autístico , Espasmos Infantiles , EpilepsiaRESUMEN
INTRODUÇÃO: Pacientes com epilepsia generalizada primária (idiopática) podem, raramente, não responder ao tratamento medicamentoso e assim apresentar crises tônico-clônicas generalizadas (CTCG) recorrentes, incapacitantes e que colocam o paciente em risco de complicações graves. OBJETIVO: Nesse artigo é relatado o caso de um paciente com epilepsia generalizada primária e CTCG semanais, refratárias a diversos esquemas medicamentosos, que foi submetido a uma calosotomia. RESULTADO: No curto espaço de 3 meses de seguimento pós-operatório, o paciente não mais apresentou CTCG. CONCLUSÃO: A calosotomia pode ser um procedimento útil na redução da freqüência de CTCG refratárias, mesmo em pacientes com epilepsia generalizada primária.
INTRODUCTION: Patients with idiophatic generalized epilepsy (IGE) may occasionally have frequent generalized tonic-clonic seizures (GTCS) which are not adequantely controlled by antiepileptic drugs. Frequent GTCS pose a significant risk of injury and other complications. In symptomatic generalized epilepsies, corpus callosotomy (CC) has been shown to be effective in reducing the number of generalized seizures. OBJECTIVE: We report a patient with refractory, weekly GTCS in the context of a primary generalized epilepsy syndrome who underwent subtotal CC. RESULT: In the 3 months since operation, no GTCS occurred. CONCLUSION: Corpus callosotomy can be helpful in reducing medically-refractory GTCS, even in patients with primary generalized epilepsies.