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OBJECTIVE: To evaluate the psychometric properties of the Serbian-language version of the Stigma Scale of Epilepsy (SSE). METHODS: The sample consisted of 108 patients with epilepsy (PWE) (60.2 % were female, age range: 19-67 years) and 102 students (86.3 % were female, age range: 18-47 years). The study encompassed two phases: (1) translation of the SSE into Serbian using the back-translation technique, and (2) evaluation of reliability and construct validity of the Serbian-language version of SSE. In addition to the SSE, the PWE filled out a Neurological Disorders Depression Inventory for Epilepsy (NDDI-E), Patient Health Questionnaire-9 (PHQ-9), and Generalized Anxiety Disorder-7 (GAD-7). The socio-demographic and clinical variables were noted for each patient by the semistructured interview. Besides completing the SSE, the students were asked if they knew anyone with epilepsy. The reliability of the questionnaire was tested by assessing the internal consistency of the scale (Cronbach's α), while construct validity was assessed by factor analysis, method of known-groups validation, and correlation analysis. RESULTS: SSE demonstrates a satisfactory level of reliability in both samples, with Cronbach's α of 0.86 in the PWE sample and 0.90 in the student sample. Using exploratory factor analysis, four factors were identified in both samples, corresponding relatively well with the scale domains originally produced, with a few exceptions described. Adverse effects (AEs) of antiseizure medications (ASMs) and driving ability significantly influenced SSE scores, but there were no significant effects of other socio-demographic and clinical variables on epilepsy-related stigma in the PWE sample. In addition, depression severity significantly influenced SSE scores (based on NDDI-E cut-off score), with the SSE showing a positive association with PHQ-9 (r = 0.42, p < .001) and GAD-7 (r = 0.35, p < .001) as well. Regarding the student sample, the effects of personal knowledge of someone with epilepsy on SSE scores were found to be significant. Besides, students (M = 46.28, SD = 16.43) reported higher epilepsy-related stigma than patients (M = 40.66, SD = 17.01), t(208) = 2.43, p < .05, d = 0.34. CONCLUSION: The Serbian version of the SSE has good psychometric properties and represents a useful tool for assessing epilepsy-related stigma in both patients and the general population.
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Epilepsia , Humanos , Femenino , Adulto Joven , Adulto , Persona de Mediana Edad , Anciano , Adolescente , Masculino , Psicometría/métodos , Reproducibilidad de los Resultados , Serbia , Epilepsia/diagnóstico , Epilepsia/complicaciones , Encuestas y Cuestionarios , LenguajeRESUMEN
PURPOSE: We conducted an observational study to investigate the opinions of neurologists and psychiatrists all around the world who are taking care of patients with seizures [epilepsy and functional seizures (FS)]. METHODS: Practicing neurologists and psychiatrists from around the world were invited to participate in an online survey. On 29th September 2022, an e-mail including a questionnaire was sent to the members of the International Research in Epilepsy (IR-Epil) Consortium. The study was closed on 1st March 2023. The survey, conducted in English, included questions about physicians' opinions about FS and anonymously collected data. RESULTS: In total, 1003 physicians from different regions of the world participated in the study. Both neurologists and psychiatrists identified "seizures" as their preferred term. Overall, the most preferred modifiers for "seizures" were "psychogenic" followed by "functional" by both groups. Most participants (57.9%) considered FS more difficult to treat compared to epilepsy. Both psychological and biological problems were considered as the underlying cause of FS by 61% of the respondents. Psychotherapy was considered the first treatment option for patients with FS (79.9%). CONCLUSION: Our study represents the first large-scale attempt of investigating physicians attitudes and opinions about a condition that is both frequent and clinically important. It shows that there is a broad spectrum of terms used by physicians to refer to FS. It also suggests that the biopsychosocial model has gained its status as a widely used framework to interpret and inform clinical practice on the management of patients.
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Epilepsia , Psiquiatría , Humanos , Neurólogos/psicología , Encuestas y Cuestionarios , Epilepsia/terapia , Epilepsia/etiología , Actitud , Electroencefalografía/efectos adversosRESUMEN
The association of arachnoiditis ossificans with acquired peripheral nerve disease is rare. We report a case who presented with progressive myelopathy due to arachnoiditis ossificans from prior trauma, complicated with multifocal motor neuropathy. Intradural bone was removed at surgery.
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Aracnoiditis , Polineuropatías , Humanos , Aracnoiditis/complicaciones , Aracnoiditis/diagnóstico por imagen , Polineuropatías/complicacionesRESUMEN
INTRODUCTION: The Internet and social media are becoming increasingly important medical information sources, bringing advantages and disadvantages. The extent of social media use may help to develop a strategy for providing relevant information, enhancing patients' social status, and the work of medical practitioners in chronic medical conditions such as epilepsy. AIM: The aim of this study was to help better understand the factors of social media that may affect patients' knowledge of the disease, health education, emotional stability, thinking, and decisions in the treatment process. MATERIAL AND METHODS: We studied the representation of epilepsy among social media users in Serbian, Croatian, and Bosnian languages. Our observational study analyzed 1000 randomized posts and videos on Facebook, Twitter, and YouTube, containing the keywords "epilepsy" or "seizure." Posts were divided into three categories: topics, data sources, and the nature of the engagement. RESULTS: The most common topic among social media users was the stigmatization of patients (31%). The most prevalent data source was support groups for PWE (45.4%). The nature of the engagement was most dominant on the occasion of the exchange of information, i.e., advice (40%). CONCLUSION: The participation of medical professionals on social media is not adequately represented in Serbian, Croatian, and Bosnian language platforms. The presence of medical professionals on social media could increase the credibility of the information available to users, educate patients, and reduce the prevalence of stigma.
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Epilepsia , Medios de Comunicación Sociales , Humanos , Lenguaje , Croacia/epidemiología , Serbia , Epilepsia/epidemiología , Epilepsia/psicologíaRESUMEN
OBJECTIVE: To perform a follow-up study of the quality of life in patients with epilepsy in the era of the COVID-19 crisis. METHODS: Two months before the first case of the COVID-19 in Serbia, we obtained the Serbian Version of Quality of Life Inventory for Epilepsy 31 (SVQOLIE-31) and Neurological Disorders Depression Inventory for Epilepsy scores (SVNDDI-E) for another study. We retested the same patients one year after in COVID-19 pandemic. In addition to SVQOLIE-31, and SVNDDI-E we used a generic questionnaire compiled from items related to the COVID-19. RESULTS: We retested 97 out of 118 patients (82.2%) for the follow-up analysis. The average age was 36.1⯱â¯12.2 (range: 18-69), and 49 were women (50.5%). The median duration of epilepsy was 13â¯years (range: 1.5-48). The structural etiology of epilepsy was noted in 41 (42.3%), unknown etiology in 41 (42.3%), and genetic etiology in 15 (15.4%) patients. Fewer patients (27.8%) experienced at least one seizure three months before follow-up testing when compared to patients who experienced at least one seizure three months in initial testing (36.0%) (pâ¯=â¯0.15). All patients reported full compliance with anti-seizure medication in the follow-up. The SVQOLIE-31 score during the COVID-19 pandemic visit (64.5⯱â¯14.6) was significantly lower than the SVQOLIE-31 score before the pandemic (pâ¯<â¯0.001). The SVNDDI-E score during the COVID-19 pandemic (10.5⯱â¯3.5) was significantly higher than the SVNDDI-E score before it (pâ¯<â¯0.001). Multiple linear regression analyses revealed fear of seizures, and fear of a reduction in household income, significantly associated with SVQOLIE-31 and SVNDDI-E overall score. These variables accounted for 66% and 27% of the variance of SVQOLIE-31 and SVNDDI-E overall score. SIGNIFICANCE: Lower quality of life, higher prevalence of depression, healthcare availability issues, and perceived fears during pandemic all suggest COVID-19 has negatively impacted lives of patients with epilepsy.
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COVID-19 , Epilepsia , Adulto , Epilepsia/epidemiología , Femenino , Estudios de Seguimiento , Humanos , Persona de Mediana Edad , Pandemias , Calidad de Vida , SARS-CoV-2 , Serbia , Encuestas y Cuestionarios , Adulto JovenRESUMEN
The article examines the patient-doctor relationship, relying on Michel Foucault's concept of the clinical gaze. We argue that during the last decades, a profound transformation of the social nature of medicine took place, one that Foucault's understanding of the clinical gaze cannot adequately account for. First, the article offers an elaboration of the three-node network of clinical gaze, the clinic, and nosology to explain the positioning of the doctor and the patient within the specific social ontology generated by the rise of medicine. We then discuss intensive but irresolute developments brought by technological advancements, especially the X-ray tube. Finally, we argue that in the contemporary clinic, equipped with a plethora of sophisticated devices, the position of the doctor endured the most radical transformation in comparison with Foucault's proponent of the clinical gaze at the dawn of modern medicine.
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Relaciones Médico-Paciente , HumanosRESUMEN
The Liverpool Adverse Event Profile (LAEP) is a useful instrument in assessing the consequences of adverse events in patients using antiseizure medication. The LAEP scale has been validated in several languages to date. The aim of our study was to validate the LAEP scale in the Serbian language (SVLAEP). Validation of the SVLAEP scale was conducted by translating the original English version into the Serbian language and backtranslated into the English language. The translation was accepted when the two versions of the text were compatible. The questionnaire is then given to a group of patients with epilepsy treated with a stable dose of antiseizure medication. For the assessment of the quality of life and depression, we used the Serbian version of the Quality of Life in Epilepsy Inventory-31 (SVQOLIE-31) and the Serbian version of the Neurological Disorders Depression Inventory for Epilepsy (SVNDDI-E). From a total of 166 patients, 118 patients were included, and the remaining 48 were excluded because of other comorbidities and using other psychotropic drugs. Internal consistency (Cronbach's αâ¯=â¯0.87) and test-retest reliability (intraclass correlation coefficient (ICC)â¯=â¯0.80) were satisfactory. The SVLAEP and SVQOLIE-31 had a strong negative statistical correlation (rsâ¯=â¯-0.73; pâ¯<â¯0.001). The SVLAEP and SVNDDI-E final scores had a positive moderate correlation (rsâ¯=â¯0.52; pâ¯<â¯0.001). A moderate negative statistical correlation was found between SVNDDI-E and SVQOLIE-31 (rsâ¯=â¯-0.56; pâ¯<â¯0.001). Our study showed that the LAEP scale is a useful indicator for the frequency of the adverse events in antiepileptic drug (AED) usage, despite a minor overlap with the symptoms of depression.
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Anticonvulsivantes/efectos adversos , Epilepsia/tratamiento farmacológico , Epilepsia/epidemiología , Lenguaje , Encuestas y Cuestionarios/normas , Traducción , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Acatisia Inducida por Medicamentos/diagnóstico , Anticonvulsivantes/uso terapéutico , Estudios Transversales , Epilepsia/psicología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Trastornos del Humor/inducido químicamente , Trastornos del Humor/diagnóstico , Calidad de Vida/psicología , Reproducibilidad de los Resultados , Serbia/epidemiología , Adulto JovenRESUMEN
We report good outcome after surgical treatment of two patients with meningoencephalocele associated with pharmacoresistant temporal lobe epilepsy. Surgical management of meningoencephaloceles may result in seizure freedom, although optimal surgical strategy is still controversial.
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Epilepsia Refractaria/cirugía , Encefalocele/cirugía , Epilepsia del Lóbulo Temporal/cirugía , Meningocele/cirugía , Adulto , Anticonvulsivantes/uso terapéutico , Epilepsia Refractaria/tratamiento farmacológico , Electroencefalografía , Epilepsia del Lóbulo Temporal/tratamiento farmacológico , Femenino , Humanos , Persona de Mediana Edad , Hueso Temporal/cirugía , Resultado del TratamientoRESUMEN
PURPOSE: To investigate ability to recognize paroxysmal neurological events (PNE) based on video-recorded events alone in a group of physicians treating prevalent neurological conditions. METHODS: Total of 12 patients' videos (6 epileptic seizures (ES), 4 psychogenic nonepileptic seizures (PNES), 2 other nonepileptic seizures (oNES)) were selected. Videos were displayed once to physicians blind to clinical data and final diagnosis. Physicians determined their clinical choice: ES, PNES, oNES, and I don't know (IDK). When ES was chosen, subjects determined type of ES: focal ES, secondary generalized tonic-clonic seizure (GTCS), primary GTCS, and IDK. RESULTS: In total 145 physicians (62% female, mean age 46.2±9years) (neurologists 58.6%, neuropsychiatrists 25.5%, psychiatrists 5%, and neurology residents 10.3%) were enrolled. Physician's exposure to patients with epilepsy per week was diverse: ≤1 patient (43.7%); 1-7 patients (37.2%); >7 patients (14.5%). Reported frequency of observation of PNE was as follows: frequent (21.4%), sometimes (47.6%); rarely (26.9%); never (2.1%). Majority of subjects were not EEG readers (60.7%). Median percentage (Mdn%) of correct answers (CA) was 75% (range 25-100). Predictor of better PNE recognition was higher frequency of clinical exposure to PNE (OR 1.65; CI95% 1.11-2.45; p=0.013). Mdn% of ES CA was 83.3%, (range 33.3-100), and of PNES CA was 50% (range 0-100). Physicians were more accurate in ES than PNES identification (p<0,001). Mdn% of type of ES CA was 50%, (range 0-100). CONCLUSIONS: We demonstrate the need for education about clinical features of PNE across subgroups of physicians who deliver neurological service, with emphasis on PNES and ES type classification.
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Competencia Clínica/normas , Neurólogos/normas , Convulsiones/diagnóstico , Convulsiones/fisiopatología , Grabación en Video/normas , Adulto , Diagnóstico Diferencial , Electroencefalografía/métodos , Electroencefalografía/normas , Epilepsia/diagnóstico , Epilepsia/fisiopatología , Epilepsia/psicología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Convulsiones/psicología , Grabación en Video/métodosRESUMEN
BACKGROUND: Using a group of young healthy individuals and patients with multiple sclerosis (pMS), we aimed to investigate whether the physical attractiveness judgment affects perception of epilepsy. We tested hypothesis that subjects, in the absence of relevant clues, would catch upon the facial attractiveness when asked to speculate which person suffers epilepsy and select less attractive choices. METHOD: Two photo-arrays (7 photos for each gender) selected from the Chicago Face Database (180 neutral faces of Caucasian volunteers with unknown medical status) were shown to study participants. Photos were evenly distributed along a continuum of attractiveness that was estimated by independent raters in prestudy stage. In each photo-array, three photos had rating 1-3 (unattractive), one photo had rating 4 (neutral), and three photos had rating 5-7 (attractive). High-quality printed photo-arrays were presented to test subjects, and they were asked to select one person from each photo-array "who has epilepsy". Finally, all subjects were asked to complete questionnaire of self-esteem and 19-item Scale of stereotypes toward people with epilepsy. RESULTS: In total, 71 students of psychology, anthropology, or andragogy (mean age: 21.6±1.7years; female: 85.9%) and 70 pMS (mean age: 37.9±8years; female: 71.4%) were tested. Majority of students or pMS had no previous personal experience with individuals with epilepsy (63.4%; 47.1%, p=0.052). Male photo was selected as epileptic in the following proportions: students - 84.5% unattractive, 8.5% neutral, and 7% attractive; pMS - 62.9% unattractive, 8.6% neutral, and 28.6% attractive (p=0.003). Female photo was selected as epileptic in the following proportions: students - 38% unattractive, 52.1% neutral, and 9.9% attractive; pMS - 32.9% unattractive, 34.3% neutral, and 32.9% attractive (0.003). Both groups showed very low potential for stigmatization: significantly lower in pMS in 10 items. Patients with multiple sclerosis showed significantly higher self-esteem than students (p=0.007). CONCLUSION: Facial attractiveness influences the perception of diagnosis of epilepsy. Both students and pMS were less willing to attribute epilepsy to attractive person of both genders.
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Belleza , Epilepsia/diagnóstico , Cara , Juicio/fisiología , Estigma Social , Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Adulto JovenRESUMEN
The Neurological Disorders Depression Inventory for Epilepsy (NDDI-E) was developed and proven efficient for the rapid detection of a major depressive episode in people with epilepsy. This study describes the development, validation, and psychometric properties of the NDDI-E Serbian version. A consecutive sample of 103 patients with epilepsy was assessed using the Beck Depression Inventory (BDI) and the NDDI-E. All patients had no major difficulties in understanding or answering the questions of the Serbian version. Cronbach's alpha coefficient was 0.763. Receiver operating characteristic analysis showed an area under the curve of 0.943 (95% CI; 0.826 to 0.951), a cutoff score of ≥14, a sensitivity of 72.2%, a specificity of 95.2%, a positive predictive value of 81.3%, and a negative predictive value of 94.3%. The NDDI-E Serbian version scores were significantly and positively correlated with those of the BDI (p<0.001). The NDDI-E Serbian version constitutes a concise and consistent depression screening instrument for patients with epilepsy.
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Depresión/diagnóstico , Trastorno Depresivo Mayor/diagnóstico , Epilepsia/complicaciones , Escalas de Valoración Psiquiátrica/normas , Adulto , Depresión/complicaciones , Trastorno Depresivo Mayor/complicaciones , Epilepsia/diagnóstico , Femenino , Humanos , Masculino , Tamizaje Masivo , Persona de Mediana Edad , Inventario de Personalidad , Psicometría/métodos , Curva ROC , Reproducibilidad de los Resultados , Sensibilidad y Especificidad , Serbia , TraducciónRESUMEN
OBJECTIVE: To examine antioxidative system in hippocampi of patients with mesial temporal lobe epilepsy associated with hippocampal sclerosis (mTLE-HS). METHODS: Activity and levels of antioxidative enzymes-catalase (CAT), glutathione peroxidase (GPx), glutathione reductase (GR), manganese superoxide dismutase (MnSOD), and copper-zinc superoxide dismutase (CuZnSOD)-were assessed in hippocampi of nine pharmacoresistant mTLE-HS patients (mean age 37.7 ± [standard deviation] 6.6 years) who underwent amygdalohippocampectomy, and in 10 hippocampi obtained via autopsy from five neurologically intact controls (mean age 34.4 ± 9.0 years). Subfield and cellular (neuron/astrocyte) distribution of CAT, GPx, and MnSOD was analyzed in detail using immunohistochemical staining. RESULTS: Sclerotic hippocampi showed drastically increased activity of hydrogen peroxide-removing enzymes, CAT (p < 0.001), GPx (p < 0.001), and GR (p < 0.001), and significantly higher protein levels of CAT (p = 0.006), GPx (p = 0.040), GR (p = 0.024), and MnSOD (p = 0.004), compared to controls. CAT immunofluorescence was located mainly in neurons in both controls and HS. Control hippocampi showed GPx staining in blood vessels and CA neurons. In HS, GPx-rich loci, representing bundles of astrocytes, emerged in different hippocampal regions, whereas the number of GPx-positive vessels was drastically decreased. Neurons with abnormal morphology and strong MnSOD immunofluorescence were present in all neuronal layers in HS. Small autofluorescent deposits, most likely lipofuscin, were observed, along with astrogliosis, in CA1 in HS. SIGNIFICANCE: Antioxidative system is upregulated in HS. This documents, for the first time, that epileptogenic hippocampi are exposed to oxidative stress. Our findings provide a basis for understanding the potential involvement of redox alterations in the pathology of epilepsy, and may open new pharmacologic perspectives for mTLE-HS treatment.
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Epilepsia del Lóbulo Temporal/patología , Hipocampo/enzimología , Oxidorreductasas/metabolismo , Adolescente , Adulto , Niño , Preescolar , Epilepsia del Lóbulo Temporal/complicaciones , Femenino , Proteína Ácida Fibrilar de la Glía/metabolismo , Hipocampo/patología , Humanos , Masculino , Esclerosis/etiología , Espectrofotometría , Estadísticas no Paramétricas , Adulto JovenRESUMEN
INTRODUCTION: Identifying seizures with prolonged duration during video-electroencephalographic (EEG) monitoring is of importance to inform clinicians when to start emergency treatment of seizures to prevent status epilepticus. The aims of this study were to assess the clinical and EEG seizure duration (SD) in consecutive patients with epilepsy who underwent prolonged video-EEG monitoring and to identify a seizure type-dependent time point to start emergency treatment based on the likelihood that seizures will not stop spontaneously. Furthermore, we sought to determine predictors of SD and explored the relationship between antiepileptic drug (AED) serum levels and SD. MATERIAL AND METHODS: We retrospectively analyzed 1796 seizures in 200 patients undergoing video-EEG monitoring between January 2006 and March 2008. RESULTS: Focal simple seizures lasted significantly shorter (clinical SD: 28s, EEG SD: 42 s) compared with focal complex seizures (clinical SD: 64 s, EEG SD: 62 s), and both seizure types lasted significantly shorter compared with secondarily generalized tonic-clonic seizures (GTCSs; clinical SD: 90 s, EEG SD: 96 s). There was no difference between the duration of the convulsive phase of primary GTCSs (defined as nonfocal) and that of secondarily GTCSs (each 65 s). Cumulative clinical SD (99%) was 7 min in focal complex seizures and 11 min in focal simple seizures. Mixed linear regression model demonstrated that history of status epilepticus (P = 0.034), temporal lobe seizure onset (P = 0.040), and MRI lesions (P = 0.013) were significantly associated with logarithmic EEG SD in focal epilepsies recorded with scalp electrodes. We found significant negative correlations between the AED serum level and the EEG SD in patients treated with monotherapy: carbamazepine (P < 0.001), levetiracetam (P = 0.001), oxcarbazepine (P = 0.001), and valproic acid (P = 0.038) but not with lamotrigine monotherapy and EEG SD. DISCUSSION: Based on the results of this study, we propose 2 min of convulsive seizure activity (irrespective of focal or generalized onset) as a prolonged seizure, which could serve as a time point to consider treatment to prevent status epilepticus. In focal complex seizures, we suggest an upper limit of 7 min, and in focal simple seizures 11 min, as definition of prolonged seizures. History of status epilepticus, temporal seizure onset, and lesional MRI findings are factors associated with significantly longer SD. Negative correlations of carbamazepine, levetiracetam, oxcarbazepine, and valproic acid serum levels and SD suggest a prolonging effect on seizures during withdrawal of these AEDs during video-EEG monitoring sessions. This article is part of a Special Issue entitled "Status Epilepticus".
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Electroencefalografía/tendencias , Epilepsias Parciales/diagnóstico , Epilepsias Parciales/fisiopatología , Epilepsia Tónico-Clónica/diagnóstico , Epilepsia Tónico-Clónica/fisiopatología , Grabación en Video/tendencias , Adolescente , Adulto , Anciano , Anticonvulsivantes/uso terapéutico , Electroencefalografía/métodos , Epilepsias Parciales/tratamiento farmacológico , Epilepsia Tónico-Clónica/tratamiento farmacológico , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Convulsiones/diagnóstico , Convulsiones/tratamiento farmacológico , Convulsiones/fisiopatología , Factores de Tiempo , Grabación en Video/métodos , Adulto JovenRESUMEN
An altered metal and electrolyte profile has been implicated in the pathologic mechanisms of chronic epilepsy; however, no study has comprehensively measured hippocampal concentrations of these elements in patients with mesial temporal lobe epilepsy and hippocampal sclerosis (mTLE-HS). We therefore analyzed hippocampi of 24 patients with drug-resistant mTLE-HS (mean age 35.6 ± 9.4 years) who underwent anterior temporal lobe resection and amygdalohippocampectomy and 17 hippocampi obtained by autopsy from 13 controls (mean age 40.5 ± 12.9 years), using inductively coupled plasma optical emission spectrometry (ICP-OES). Epileptic hippocampi showed significantly lower concentrations (µg/g of tissue) of copper (HS: 2.34 ± 0.12; control [C]: 3.57 ± 0.33; p < 0.001), manganese (HS: 0.205 ± 0.030; C: 0.409 ± 0.064; p = 0.004), and potassium (HS: 2,001 ± 59; C: 2,322 ± 61; p < 0.001), and increased sodium levels (HS: 1,131 ± 22; C: 1,040 ± 25; p = 0.010). Zinc, iron, calcium, and magnesium levels did not differ in HS and controls. In summary, copper and manganese levels are deficient, whereas iron level is unchanged in hippocampi from patients with mTLE-HS. Our results provide a basis for understanding the potential involvement of different metals and electrolytes in the pathology of HS.
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Electrólitos/análisis , Epilepsia del Lóbulo Temporal/patología , Hipocampo/patología , Metales/análisis , Adulto , Amígdala del Cerebelo/patología , Amígdala del Cerebelo/cirugía , Lobectomía Temporal Anterior , Cobre/análisis , Resistencia a Medicamentos , Epilepsia del Lóbulo Temporal/tratamiento farmacológico , Epilepsia del Lóbulo Temporal/cirugía , Femenino , Hipocampo/cirugía , Humanos , Masculino , Manganeso/análisis , Persona de Mediana Edad , Potasio/análisis , Esclerosis , Sodio/análisisRESUMEN
Unverricht-Lundborg disease (ULD) is an autosomal recessive disorder caused by dodecamer repeat expansion in the promoter region of the cystatin B (CSTB) gene in approximately 90% of the disease alleles worldwide. This study presents results of genetic findings in four Serbian unrelated patients with clinical and molecular diagnosis of ULD. Using newly established PCR protocol with betaine, we detected a homozygous expansion of dodecamer repeats in the CSTB gene in four patients with clinical diagnosis of ULD. Our results are in agreement with previous studies showing that dodecamer repeats expansion is the most common mutation associated with ULD. Haplotype analysis of eight unrelated ULD chromosomes was performed using seven markers flanking CSTB gene and one intragenic variant. We demonstrated the existence of a founder effect, strongly supported by LD calculations. Size of the minimal common haplotype implies that the most recent common ancestor of the Serbian ULD patients lived about 110 generations ago. We showed that Serbian ULD patients share the same common ancestor with patients from Baltic countries and North Africa. In the light of our data, we proposed extended minimal common haplotype, which could be considered as initial haplotype of the founder event common for Serbian, Baltic, and North African ULD patients.
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Cistatina B/genética , Efecto Fundador , Haplotipos/genética , Síndrome de Unverricht-Lundborg/genética , Adolescente , Niño , Expansión de las Repeticiones de ADN/genética , Femenino , Predisposición Genética a la Enfermedad/genética , Humanos , Masculino , Filogeografía , SerbiaRESUMEN
PURPOSE: In a homogeneous cohort of mesial temporal lobe epilepsy (mTLE) patients with hippocampal sclerosis (HS), this study utilizes the PETSurfer method to quantify and localize areas of cerebral hypometabolism. METHODS: We selected patients from the University Clinical Center of Serbia who all underwent anterior temporal lobectomy with amygdalohippocampectomy and achieved seizure freedom (Engel class I). Our analysis involved integrating FDG-PET and MRI imaging to compare glucose metabolism between the hemispheres ipsilateral and contralateral to HS. RESULTS: The quantitative PETSurfer approach identified significant hypometabolism restricted to the ipsilateral temporal lobe structures-the amygdala, hippocampus, temporal pole, superior and middle temporal gyrus-and the ipsilateral thalamus. The lack of significant hypometabolism in extratemporal regions indicates that these 'pure' mTLE cases may not involve the broader network disruptions typically associated with more extensive epileptic pathologies. The effect sizes ranged from small to medium, indicating variable degrees of metabolic reduction across different structures. CONCLUSION: These findings highlight the localized nature of the epileptogenic focus in HS-related mTLE with good surgical outcome. However, the small sample size and potential cohort bias, necessitate caution in generalizing these results. Future research would benefit from a comparative approach incorporating a control group, providing a broader context for interpreting these hypometabolic patterns.
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Epilepsia del Lóbulo Temporal , Esclerosis del Hipocampo , Imagen por Resonancia Magnética , Tomografía de Emisión de Positrones , Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Adulto Joven , Epilepsia del Lóbulo Temporal/diagnóstico por imagen , Epilepsia del Lóbulo Temporal/patología , Fluorodesoxiglucosa F18 , Esclerosis del Hipocampo/diagnóstico por imagen , Esclerosis del Hipocampo/patologíaRESUMEN
PURPOSE: The orbitofrontal (OF) region is one of the least explored regions of the cerebral cortex. There are few studies on patients with electrophysiologically and surgically confirmed OF epilepsy and a negative magnetic resonance imaging (MRI) study. We aimed to examine the neuroimaging characteristics of MRI-negative OF epilepsy with the focus on a voxel-based morphometric MRI postprocessing technique. METHODS: We included six patients with OF epilepsy, who met the following criteria: surgical resection of the OF lobe with/without adjacent cortex, seizure-free for ≥12 months, invasive video-electroencephalography (EEG) monitoring showing ictal onset from the OF area, and preoperative MRI regarded as negative. Patients were investigated in terms of their image postprocessing and functional neuroimaging characteristics, electroclinical characteristics obtained from noninvasive and invasive evaluations, and surgical pathology. MRI postprocessing on T1 -weighted high-resolution scans was implemented with a morphometric analysis program (MAP) in MATLAB. KEY FINDINGS: Single MAP+ abnormalities were found in four patients; three were in the OF region and one in the ipsilateral mesial frontal area. These abnormalities were included in the resection. One patient had bilateral MAP+ abnormalities in the OF region, with the ipsilateral one completely removed. The MAP+ foci were concordant with invasive electrophysiologic data in the majority of MAP+ patients (four of five). The localization value of 18F-fluorodeoxyglucose-positron emission tomography (FDG-PET) and ictal single-photon emission computed tomography (SPECT) is low in this cohort. Surgical pathology included focal cortical dysplasia, remote infarct, Rosenthal fiber formation and gliosis. SIGNIFICANCE: Our study highlights the importance of MRI postprocessing in the process of presurgical evaluation of patients with suspected orbitofrontal epilepsy and "normal" MRI. Using MAP, we were able to positively identify subtle focal abnormalities in the majority of the patients. MAP results need to be interpreted in the context of their electroclinical findings and can provide valuable targets in the process of planning invasive evaluation.
Asunto(s)
Epilepsia del Lóbulo Frontal/patología , Imagen por Resonancia Magnética , Neuroimagen , Adolescente , Adulto , Proteínas Bacterianas , Encéfalo/patología , Encéfalo/fisiopatología , Niño , Electroencefalografía , Epilepsia del Lóbulo Frontal/fisiopatología , Exotoxinas , Femenino , Neuroimagen Funcional , Humanos , Procesamiento de Imagen Asistido por Computador/métodos , Imagen por Resonancia Magnética/métodos , Masculino , Persona de Mediana Edad , Neuroimagen/métodos , Tomografía de Emisión de Positrones , Adulto JovenRESUMEN
Oral lacerations are common complications of seizures and account for 92% of all oral injuries. Seizures are relatively commonly associated with chronic alcohol consumption. It is already known that provoked seizures can occur after a sudden cessation of prolonged alcohol intoxication. Meanwhile, chronic alcohol consumption can disrupt the blood coagulation process on several levels. This report aims to present a case of generalized tonic-clonic seizure in a man with chronic alcoholism and acquired coagulopathy who suffered severe tongue injury during a seizure. A 45-year-old man was brought to the emergency department after a first-in-life generalized tonic-clonic seizure. He gave information that he bit his tongue during the seizure. Shortly afterward, the patient had another generalized seizure during which he stopped breathing and was intubated. On admission, the patient was sedated, intubated, and on mechanical ventilation, with no signs of focal neurological deficit. A detailed physical examination revealed massive tongue swelling, which was significantly moved forward. Laboratory tests revealed coagulopathy (INR 2,10) severe thrombocytopenia with a platelet count of 50x109/L. Electrolyte values were in the reference range. According to the maxillofacial surgeon's recommendation, he was treated conservatively, and after 2 weeks, he was clinically stable with a significant reduction of lingual hematoma and without new epileptic events. In our case, decreased platelet count and probable platelet dysfunction associated with chronic alcohol consumption and tongue bite during generalized tonic-clonic seizure played a significant role in developing lingual hematoma. These fast-developing lingual hematomas can lead to possible airway obstruction; therefore, careful observation and timely intubation are mandatory to prevent possible fatal complications.
RESUMEN
Every third patient with intracranial meningioma develops seizures of poorly understood etiology. Tumor and peritumoral edema may exert mechanical pressure on the cortex that may affect mechano-gated potassium channels - KCNK2 and KCNK4. These channels regulate neuron excitability and have been related to seizures in some other conditions. The objective of the present study was to explore a potential relation between the levels of these proteins in tumor tissue and adjacent cortex and seizures development. The study included 19 meningioma patients that presented one or more preoperative seizures and 24 patients with no seizures. Tissue samples were collected in the course of surgical removal of the meningioma. Postoperative seizure freedom was achieved in 11 out of 19 patients. The relative level of KCNK2 in the cortical tissue was lower in patients with preoperative seizures. On the other hand, cortical tissue level of KCNK4 was higher in patients that became seizure-free after the surgery. In addition, relative levels of KCNK4 in the cortical and tumor tissue appear to be lowered by the treatment with anti-seizure medication levetiracetam. These results imply that KCNK2 and KCNK4 may be involved in the development of meningioma-related seizures and may represent promising therapeutic targets.
RESUMEN
The aim of this study was to determine whether the occurrence of unilateral ictal limb dystonia (ID) during complex partial seizures (CPS) reduces the possibility of contralateral propagation (CP) and secondary generalization (SG) in patients with temporal lobe epilepsy (TLE). We assessed 216 seizures recorded in 33 patients with pharmacoresistant TLE. All patients underwent video-EEG telemetry prior to surgical treatment with good postoperative outcomes (Engel I). Ictal limb dystonia was observed in 16 of the 33 patients (48%) and 58 of the 216 seizures (26.8%). We found highly significant differences in the frequency of SG between seizures with ID and seizures without ID (2/58 vs. 41/158; 3.45% vs. 25.95%; p<0.001). Contralateral propagation was seen in 13 of the 57 analyzed seizures with ID compared to 85 of the 158 seizures without ID (22.8% vs. 53.8%; p<0.001). Among the CPS without SG, we found that the mean duration of seizures with ID was significantly longer than the duration of seizures without ID (81.66±40.10 vs. 68.88±25.01 s; p=0.011). Our findings that CP and SG occur less often in patients with ID, yet the duration of CPS without SG is longer in patients with ID, suggest that the basal ganglia might inhibit propagation to the contralateral hemisphere but not ictal activity within the unilateral epileptic network.