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1.
Neurol Sci ; 44(4): 1369-1373, 2023 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-36508079

RESUMEN

BACKGROUND: We aimed to verify the usefulness of electroencephalographic (EEG) activity recording (that is mandatory according to the Italian law), in addition to two clinical evaluations spaced 6 h, among the procedures of brain death determination (BDD) in adult individuals. METHODS: The study is a monocentric, retrospective analysis of all BDDs performed in the last 10 years at Policlinico Le Scotte in Siena (Italy). RESULTS: Of the 428 cases revised (mean age 67.6 ± 15.03 years; range 24-92 years), 225 were males and 203 females. In total, 212 out of 428 patients (49.5%) were donors. None of the BDD procedures were interrupted due to the reappearance of EEG activity (neither for clinical reasons) at any sampling time, with the exception of one case that was considered a false negative at critical reinspection of the EEG. In 6/428 cases (1.4%), a cardiac arrest occurred during the 6 h between the first and second evaluation, thus missing the opportunity to take organs from these patients because the BDD procedure was not completed. CONCLUSIONS: Once the initial clinical examination before convening the BDD Commission has ascertained the absence of brainstem reflexes and of spontaneous breathing, and these clinical findings are supported by a flat EEG recording, the repetition of a 30-min EEG twice over a 6 h period seems not to add additional useful information to clinical findings. Current data, if confirmed in other centers and possibly in prospective studies, may help to promote a scientific and bioethical debate in Italy, as well as in other countries where the EEG is still mandatory, for eventually updating the procedures of BDD.


Asunto(s)
Muerte Encefálica , Electroencefalografía , Masculino , Adulto , Femenino , Humanos , Persona de Mediana Edad , Anciano , Anciano de 80 o más Años , Muerte Encefálica/diagnóstico , Estudios Prospectivos , Estudios Retrospectivos , Electroencefalografía/métodos , Italia
2.
Epilepsia ; 62(1): 128-142, 2021 01.
Artículo en Inglés | MEDLINE | ID: mdl-33258120

RESUMEN

OBJECTIVE: To assess seizure and cognitive outcomes and their predictors in children (<16 years at surgery) and adults undergoing temporal lobe epilepsy (TLE) surgery in eight Italian centers. METHODS: This is a retrospective multicenter study. We performed a descriptive analysis and subsequently carried out multivariable mixed-effect models corrected for multiple comparisons. RESULTS: We analyzed data from 511 patients (114 children) and observed significant differences in several clinical features between adults and children. The possibility of achieving Engel class IA outcome and discontinuing antiepileptic drugs (AEDs) at last follow-up (FU) was significantly higher in children (P = .006 and < .0001). However, percentages of children and adults in Engel class I at last FU (mean ± SD, 45.9 ± 17 months in children; 45.9 ± 20.6 months in adults) did not differ significantly. We identified different predictors of seizure outcome in children vs adults and at short- vs long-term FU. The only variables consistently associated with class I outcome over time were postoperative electroencephalography (EEG) in adults (abnormal, improved,odds ratio [OR] = 0.414, P = .023, Q = 0.046 vs normal, at 2-year FU and abnormal, improved, OR = 0.301, P = .001, Q = 0.002 vs normal, at last FU) and the completeness of resection of temporal magnetic resonance (MR) abnormalities other than hippocampal sclerosis in children (OR = 7.93, P = .001, Q = 0.003, at 2-year FU and OR = 45.03, P < .0001, Q < 0.0001, at last FU). Cognitive outcome was best predicted by preoperative performances in either age group. SIGNIFICANCE: Clinical differences between adult and pediatric patients undergoing TLE surgery are reflected in differences in long-term outcomes and predictors of failures. Children are more likely to achieve sustained seizure freedom and withdraw AEDs after TLE surgery. Earlier referral should be encouraged as it can improve surgical outcome.


Asunto(s)
Cognición , Epilepsia del Lóbulo Temporal/cirugía , Procedimientos Neuroquirúrgicos , Adolescente , Adulto , Factores de Edad , Anticonvulsivantes/uso terapéutico , Niño , Preescolar , Intervención Médica Temprana , Electroencefalografía , Epilepsia del Lóbulo Temporal/tratamiento farmacológico , Epilepsia del Lóbulo Temporal/fisiopatología , Epilepsia del Lóbulo Temporal/psicología , Femenino , Hipocampo/patología , Humanos , Masculino , Malformaciones del Desarrollo Cortical/patología , Pruebas Neuropsicológicas , Complicaciones Posoperatorias/epidemiología , Pronóstico , Estudios Retrospectivos , Esclerosis , Adulto Joven
3.
Neurol Sci ; 42(6): 2249-2260, 2021 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-33797619

RESUMEN

In 2009, the Commission for Epilepsy Surgery of the Italian League Against Epilepsy (LICE) conducted an overview about the techniques used for the pre-surgical evaluation and the surgical treatment of epilepsies. The recognition that, in selected cases, surgery can be considered the first-line approach, suggested that the experience gained by the main Italian referral centers should be pooled in order to provide a handy source of reference. In light of the progress made over these past years, some parts of that first report have accordingly been updated. The present revision aims to harmonize the general principles regulating the patient selection and the pre-surgical work-up, as well as to expand the use of epilepsy surgery, that still represents an underutilized resource, regrettably. The objective of this contribution is drawing up a methodological framework within which to integrate the experiences of each group in this complex and dynamic sector of the neurosciences.


Asunto(s)
Epilepsia , Neurociencias , Epilepsia/cirugía , Humanos , Procedimientos Neuroquirúrgicos , Selección de Paciente , Derivación y Consulta
4.
Epilepsia ; 54 Suppl 7: 35-48, 2013 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-24099054

RESUMEN

The Commission for Epilepsy Surgery of the Italian League Against Epilepsy (LICE) presents an overview of the techniques and methodologies of presurgical evaluation and of the surgical treatment of epilepsies. This overview is the result of the experience developed in the past years in the major Italian centers where programs of epilepsy surgery have been established, and it has the aim of offering a quick and easy reference tool for those involved in the treatment of patients with epilepsy. The sharing of different experiences has the additional aim of conforming and disseminating the employed techniques as well as the methods of selection and evaluation of patients. The synthetic coverage of the main issues concerning the presurgical workup and the available surgical options will hopefully provide a framework that may integrate and develop the contributions of every single center, in one of the more complex, challenging, and dynamic areas of neurological sciences.


Asunto(s)
Epilepsia/diagnóstico , Epilepsia/cirugía , Procedimientos Neuroquirúrgicos/métodos , Cuidados Preoperatorios/métodos , Epilepsia/epidemiología , Humanos , Resultado del Tratamiento
5.
J Sleep Res ; 22(3): 337-47, 2013 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-23171248

RESUMEN

Obstructive sleep apnea (OSA) syndrome is the most common sleep-related breathing disorder, characterized by excessive snoring and repetitive apneas and arousals, which leads to fragmented sleep and, most importantly, to intermittent nocturnal hypoxaemia during apneas. Considering previous studies about morphovolumetric alterations in sleep apnea, in this study we aimed to investigate for the first time the functional connectivity profile of OSA patients and age-gender-matched healthy controls, using resting-state functional magnetic resonance imaging (fMRI). Twenty severe OSA patients (mean age 43.2 ± 8 years; mean apnea-hypopnea index, 36.3 h(-1) ) and 20 non-apneic age-gender-body mass index (BMI)-matched controls underwent fMRI and polysomnographic (PSG) registration, as well as mood and sleepiness evaluation. Cerebro-cerebellar regional homogeneity (ReHo) values were calculated from fMRI acquisition, in order to identify pathology-related alterations in the local coherence of low-frequency signal (<0.1 Hz). Multivariate pattern classification was also performed using ReHo values as features. We found a significant pattern of cortical and subcortical abnormal local connectivity in OSA patients, suggesting an overall rearrangement of hemispheric connectivity balance, with a decrease of local coherence observed in right temporal, parietal and frontal lobe regions. Moreover, an increase in bilateral thalamic and somatosensory/motor cortices coherence have been found, a finding due possibly to an aberrant adaptation to incomplete sleep-wake transitions during nocturnal apneic episodes, induced by repetitive choke sensation and physical efforts attempting to restore breathing. Different hemispheric roles into sleep processes and a possible thalamus key role in OSA neurophysiopathology are intriguing issues that future studies should attempt to clarify.


Asunto(s)
Corteza Cerebral/fisiopatología , Imagen por Resonancia Magnética/métodos , Red Nerviosa/fisiopatología , Apnea Obstructiva del Sueño/fisiopatología , Tálamo/fisiopatología , Adulto , Corteza Cerebral/metabolismo , Conectoma/instrumentación , Conectoma/métodos , Femenino , Lateralidad Funcional/fisiología , Humanos , Imagen por Resonancia Magnética/instrumentación , Masculino , Persona de Mediana Edad , Red Nerviosa/metabolismo , Polisomnografía/instrumentación , Polisomnografía/métodos , Apnea Obstructiva del Sueño/diagnóstico , Apnea Obstructiva del Sueño/metabolismo , Tálamo/metabolismo , Resultado del Tratamiento
6.
Epileptic Disord ; 14(1): 85-9, 2012 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-22426485

RESUMEN

Background. Periodic lateralised epileptiform discharges (PLEDs) are EEG patterns consisting of periodic or pseudoperiodic unilateral, focal or hemispheric epileptiform discharges at a rate of 1-2 Hz. PLEDs may be triggered by acute brain injuries or systemic metabolic changes such as fever, hyperglycaemia or electrolyte imbalance and may result in disturbance of consciousness and/or neurological deficits. Case report. A 58-year-old female with a history of focal epilepsy and deep brain haematoma presented with acute change in awareness, associated with EEG evidence of PLEDs, three days after a left internal carotid artery stenting procedure. Clinical examination, laboratory testing and MRI were unchanged with respect to pre-stenting investigations. Conclusion. In this patient, PLEDs may have been triggered by local haemodynamic changes due to reperfusion after stenting in a previously damaged brain area.


Asunto(s)
Implantación de Prótesis Vascular/efectos adversos , Encéfalo/fisiopatología , Arteria Carótida Interna/cirugía , Estenosis Carotídea/cirugía , Epilepsias Parciales/etiología , Stents , Epilepsias Parciales/fisiopatología , Femenino , Humanos , Persona de Mediana Edad
7.
J Neuroimaging ; 32(2): 314-327, 2022 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-34964182

RESUMEN

BACKGROUND AND PURPOSE: Obstructive sleep apnea (OSA) syndrome is a sleep disorder characterized by excessive snoring, repetitive apneas, and nocturnal arousals, that leads to fragmented sleep and intermittent nocturnal hypoxemia. Morphometric and functional brain alterations in cortical and subcortical structures have been documented in these patients via magnetic resonance imaging (MRI), even if correlational data between the alterations in the brain and cognitive and clinical indexes are still not reported. METHODS: We examined the impact of OSA on brain spontaneous activity by measuring the fractional amplitude of low-frequency fluctuations (fALFF) in resting-state functional MRI data of 20 drug-naïve patients with OSA syndrome and 20 healthy controls matched for age, gender, and body mass index. RESULTS: Patients showed a pattern of significantly abnormal subcortical functional activity as compared to controls, with increased activity selectively involving the thalami, specifically their intrinsic nuclei connected to somatosensory and motor-premotor cortical regions. Using these nuclei as seed regions, the subsequent functional connectivity analysis highlighted an increase in patients' thalamocortical connectivity at rest. Additionally, the correlation between fALFF and polysomnographic data revealed a possible link between OSA severity and fALFF of regions belonging to the central autonomic network. CONCLUSIONS: Our results suggest a hyperactivation in thalamic diurnal activity in patients with OSA syndrome, which we interpret as a possible consequence of increased thalamocortical circuitry activation during nighttime due to repeated arousals.


Asunto(s)
Mapeo Encefálico , Apnea Obstructiva del Sueño , Encéfalo , Mapeo Encefálico/métodos , Humanos , Imagen por Resonancia Magnética/métodos , Apnea Obstructiva del Sueño/diagnóstico por imagen , Tálamo/diagnóstico por imagen
8.
Neurosurgery ; 88(2): 384-393, 2021 01 13.
Artículo en Inglés | MEDLINE | ID: mdl-32860416

RESUMEN

BACKGROUND: Hippocampal sclerosis (HS) may be associated with focal cortical dysplasia IIIa (FCD IIIa) in patients undergoing surgery for temporal lobe epilepsy (TLE). OBJECTIVE: To investigate whether the anatomo-electro-clinical profile and surgical outcome in patients with HS-related TLE are affected by coexisting FCD IIIa. METHODS: A total of 220 patients, operated in 5 centers, with at least 24 mo follow-up (FU), were retrospectively studied. Preliminary univariate and subsequent multivariate analyses were performed to investigate possible associations between several potential presurgical, surgical, and postsurgical predictors and different variables (Engel's class I and Engel's class Ia, co-occurrence of FCD IIIa). RESULTS: At last available postoperative control (FU: range 24-95 mo, median 47 mo), 182 (82.7%) patients were classified as Engel's class I and 142 (64.5%) as Engel's class Ia. At multivariate analysis, extension of neocortical resection and postoperative electroencephalogram were significantly associated with Engel's class I, whereas length of FU had a significant impact on class Ia in the whole cohort and in isolated HS (iHS) patients, but not in the FCD IIIa group. No differences emerged in the anatomo-electro-clinical profile and surgical results between patients with FCD IIIa and with iHS. CONCLUSION: Coexistence of FCD IIIa did not confer a distinct anatomo-electro-clinical profile to patients with HS-related epilepsy. Postoperative seizure outcome was similar in FCD IIIa and iHS cases. These findings indicate limited clinical relevance of FCD IIIa in HS-related epilepsy and might be useful for refining future FCD classifications. Further studies are needed to clarify the correlation of class Ia outcome with the duration of FU.


Asunto(s)
Encefalopatías/complicaciones , Epilepsia del Lóbulo Temporal/fisiopatología , Epilepsia del Lóbulo Temporal/cirugía , Malformaciones del Desarrollo Cortical/complicaciones , Adolescente , Adulto , Niño , Estudios de Cohortes , Epilepsia del Lóbulo Temporal/etiología , Femenino , Hipocampo/patología , Humanos , Masculino , Análisis Multivariante , Estudios Retrospectivos , Esclerosis/complicaciones , Esclerosis/patología , Resultado del Tratamiento , Adulto Joven
9.
Seizure ; 80: 145-152, 2020 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-32570172

RESUMEN

PURPOSE: Malformations of cortical development (MCD) are a phenotypically and genetically heterogeneous group of disorders, for which the diagnostic rate of genetic testing in a clinical setting remains to be clarified. In this study we aimed to assess the diagnostic rate of germline and pathogenic variants using a custom panel in a heterogeneous group of subjects with MCD and explore genotype-phenotype correlations. METHODS: A total of 84 subjects with different MCD were enrolled. Genomic DNA was isolated from peripheral blood. Fifty-nine tartget genes were assessed using a custom next-generation sequencing (NGS) panel. RESULTS: Genetic causes were identified in one-fourth of our cohort (21.4 %). Overall, we identified 19 pathogenic or likely pathogenic single-nucleotide variants in 11 genes among 18 subjects, including PAFAH1B1 (LIS1) (n = 3), TUBA1A (n = 3), DYNC1H1 (n = 3), ACTG1 (n = 2), TUBB2B (n = 1), TUBB3 (n = 1), DCX (n = 1), FLNA (n = 1), LAMA2 (n = 1), POMGNT2 (n = 1) and VLDLR (n = 1). The diagnostic yield was higher in patients with lissencephaly/pachygyria (60 %) (p = 0.001), cobblestone malformation (50 %), and subcortical band heterotopia (SBH) (40 %). Furthermore, five out of six subjects with suspect tubulinopathies on imaging harboured pathogenic variants in tubulin genes. Overall, germline pathogenic variants were more likely to be identified if MCD were diffuse (p = 0.002) and associated with other central nervous system malformations (p = 0.029). Moderate to severe intellectual disability was also more commonly associated with pathogenic variants (p = 0.044). CONCLUSION: Customized gene panels may support the diagnostic work-up for some specific MCD, especially when these are diffuse, bilateral and associated with other brain malformations.


Asunto(s)
Lisencefalias Clásicas y Heterotopias Subcorticales en Banda , Lisencefalia , Malformaciones del Desarrollo Cortical , Estudios de Asociación Genética , Humanos , Malformaciones del Desarrollo Cortical/diagnóstico por imagen , Malformaciones del Desarrollo Cortical/genética , Mutación
10.
Front Psychol ; 10: 129, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-30858808

RESUMEN

Among the different therapeutic alternatives for post-traumatic stress disorder (PTSD), Trauma-Focused Cognitive-Behavioral Therapy (TF-CBT) and Eye Movement Desensitization and Reprocessing (EMDR) Therapy have shown promising results in helping patients cope with PTSD symptoms. However, given the different theoretical and methodological substrate of TF-CBT and EMDR, a potentially different impact on the brain for the two interventions could be hypothesized, as well as an interaction between trauma-specific PTSD symptomatology and response to a given psychotherapy. In this study, we monitored psychological and spontaneous functional connectivity fMRI patterns in two groups of PTSD patients who suffered by the same traumatic event (i.e., natural disaster), before and after a cycle of psychotherapy sessions based on TF-CBT and EMDR. Thirty-seven (37) PTSD patients were enrolled from a larger sample of people exposed to a single, acute psychological stress (i.e., 2002 earthquake in San Giuliano di Puglia, Italy). Patients were randomly assigned to TF-CBT (n = 14) or EMDR (n = 17) psychotherapy. Clinical assessment was performed using the Clinician-Administered PTSD Scale (CAPS), the Davidson Trauma Scale (DTS) and the Work and Social Adjustment Scale (WSAS), both at baseline and after treatment. All patients underwent a fMRI data acquisition session before and after treatment, aimed at characterizing their functional connectivity (FC) profile at rest, as well as potential connectivity changes associated with the clinical impact of psychotherapy. Both EMDR and TF-CBT induced statistically significant changes in clinical scores, with no difference in the clinical impact of the two treatments. Specific changes in FC correlated with the improvement at the different clinical scores, and differently for EMDR and TF-CBT. However, a similarity in the connectivity changes associated with changes in CAPS in both groups was also observed. Specifically, changes at CAPS in the entire sample correlated with an (i) increase in connectivity between the bilateral superior medial frontal gyrus and right temporal pole, and a (ii) decrease in connectivity between left cuneus and left temporal pole. Results point to a similar, beneficial psychological impact of EMDR and TF-CBT for treatment of natural-disaster PTSD patients. Neuroimaging data suggest a similar neurophysiological substrate for clinical improvement following EMDR and TF-CBT, involving changes affecting bilateral temporal pole connectivity.

11.
IEEE Trans Biomed Eng ; 66(6): 1494-1504, 2019 06.
Artículo en Inglés | MEDLINE | ID: mdl-30296211

RESUMEN

Epilepsy is a neurological disorder arising from anomalies of the electrical activity in the brain, affecting about 65 millions individuals worldwide. OBJECTIVE: This paper proposes a patient-specific approach for short-term prediction (i.e., within few minutes) of epileptic seizures. METHODS: We use noninvasive EEG data, since the aim is exploring the possibility of developing a noninvasive monitoring/control device for the prediction of seizures. Our approach is based on finding synchronization patterns in the EEG that allow to distinguish in real time preictal from interictal states. In practice, we develop easily computable functions over a graph model to capture the variations in the synchronization, and employ a classifier for identifying the preictal state. RESULTS: We compare two state-of-the-art classification algorithms and a simple and computationally inexpensive threshold-based classifier developed ad hoc. Results on publicly available scalp EEG database and on scalp data of the patients of the Unit of Neurology and Neurophysiology at University of Siena show that this simple and computationally viable processing is able to highlight the changes in synchronization when a seizure is approaching. CONCLUSION AND SIGNIFICANCE: The proposed approach, characterized by low computational requirements and by the use of noninvasive techniques, is a step toward the development of portable and wearable devices for real-life use.


Asunto(s)
Sincronización de Fase en Electroencefalografía , Convulsiones/diagnóstico , Procesamiento de Señales Asistido por Computador , Adolescente , Adulto , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Persona de Mediana Edad , Convulsiones/fisiopatología , Máquina de Vectores de Soporte , Adulto Joven
12.
World Neurosurg ; 121: e761-e768, 2019 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-30308344

RESUMEN

OBJECTIVE: To analyze relationships between CD34 expression and several demographic, clinical, and pathologic features in patients with histopathologic evidence of low-grade epilepsy-associated tumors who underwent epilepsy surgery. METHODS: A retrospective study enrolling 187 patients with low-grade epilepsy-associated tumors who underwent surgery between January 2009 and June 2015 at 8 Italian epilepsy surgery centers was conducted. All cases were histologically diagnosed according to the World Health Organization classification of central nervous system tumors. Univariate and multivariate analyses were performed to identify variables associated with CD34 expression. RESULTS: Of 187 patients, 95 (50.8%) were CD34 positive. Tumor type and duration of epilepsy were independently associated with CD34 expression on multivariate analysis. Ganglioglioma and pleomorphic xanthoastrocytoma were the histologic types with the strongest association with CD34 positivity with an odds ratio of 9.2 and 10.4, respectively, compared with dysembryoplastic neuroepithelial tumors. Patients with a duration of epilepsy >10 years had a significantly greater likelihood to show CD34 expression, with an odds ratio of 2.8 compared with patients with a duration of epilepsy <2 years. On univariate analysis, CD34 expression appeared to be significantly related to older age at surgery, higher antiepileptic drug intake, and female sex. CONCLUSIONS: CD34 expression holds promise as a useful biomolecular marker for patients with low-grade epilepsy-associated tumors with evidence of a link with clinicopathologic features. This study confirmed the association between CD34 expression and tumor type and demonstrated a significantly higher probability of CD34 expression in patients with longer duration of epilepsy, independent of histology.


Asunto(s)
Antígenos CD34/metabolismo , Neoplasias Encefálicas/complicaciones , Encéfalo/patología , Epilepsia , Glioma/complicaciones , Adolescente , Adulto , Anticonvulsivantes/uso terapéutico , Encéfalo/diagnóstico por imagen , Niño , Electroencefalografía , Epilepsia/etiología , Epilepsia/metabolismo , Epilepsia/patología , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Fosfopiruvato Hidratasa/metabolismo , Estudios Retrospectivos , Estadísticas no Paramétricas , Grabación en Video , Adulto Joven
13.
PLoS One ; 13(9): e0204339, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-30252915

RESUMEN

Epilepsy is often associated with modifications in autonomic nervous system, which usually precede the onset of seizures of several minutes. Thus, there is a great interest in identifying these modifications enough time in advance to prevent a dangerous effect and to intervene. In addition, these changes can be a risk factor for epileptic patients and can increase the possibility of death. Notably autonomic changes associated to seizures are highly depended of seizure type, localization and lateralization. The aim of this study was to develop a patient-specific approach to predict seizures using electrocardiogram (ECG) features. Specifically, from the RR series, both time and frequency variables and features obtained by the recurrence quantification analysis were used. The algorithm was applied in a dataset of 15 patients with 38 different types of seizures. A feature selection step, was used to identify those features that were more significant in discriminating preictal and interictal phases. A preictal interval of 15 minutes was selected. A support vector machine (SVM) classifier was then built to classify preictal and interictal phases. First, a classifier was set up to classify preictal and interictal segments of each patient and an average sensibility of 89.06% was obtained, with a number of false positive per hour (FP/h) of 0.41. Then, in those patients who had at least 3 seizures, a double-cross-validation approach was used to predict unseen seizures on the basis of a training on previous ones. The results were quite variable according to seizure type, achieving the best performance in patients with more stereotypical seizure. The results of the proposed approach show that it is feasible to predict seizure in advance, considering patient-specific, and possible seizure specific, characteristics.


Asunto(s)
Biología Computacional/métodos , Frecuencia Cardíaca , Convulsiones/diagnóstico , Convulsiones/fisiopatología , Adolescente , Adulto , Niño , Electrocardiografía , Femenino , Humanos , Masculino , Recurrencia , Máquina de Vectores de Soporte , Adulto Joven
14.
Front Integr Neurosci ; 12: 22, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-29946244

RESUMEN

Laminar heterotopia is a rare condition consisting in an extra layer of gray matter under properly migrated cortex; it configures an atypical presentation of periventricular nodular heterotopia (PNH) or a double cortex (DC) syndrome. We conducted an original functional MRI (fMRI) analysis in a drug-resistant epilepsy patient with "double-cortex"-like malformation to reveal her functional connectivity (FC) as well as a wide genetic analysis to identify possible genetic substrates. Heterotopias were segmented into region of interests (ROIs), whose voxel-wise FC was compared to that of (i) its normally migrated counterpart, (ii) its contralateral homologous, and (iii) those of 30 age-matched healthy controls. Extensive genetic analysis was conducted to screen cortical malformations-associated genes. Compared to healthy controls, both laminar heterotopias and the overlying cortex showed significant reduction of FC with the contralateral hemisphere. Two heterozygous variants of uncertain clinical significance were found, involving autosomal recessive disease-causing genes, FAT4 and COL18A1. This first FC analysis of a unique case of "double-cortex"-like malformation revealed a hemispheric connectivity segregation both in the laminar cortex as in the correctly migrated one, with a new pattern of genes' mutations. Our study suggests the altered FC could have an electrophysiological and functional impact on large-scale brain networks, and the involvement of not yet identified genes in "double-cortex"-like malformation with a possible role of rare variants in recessive genes as pathogenic cofactors.

15.
Riv Psichiatr ; 52(1): 24-31, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-28287194

RESUMEN

INTRODUCTION: Few studies have investigated the effects of efficacious psychotherapy on structural alterations of discrete brain regions associated with posttraumatic stress disorder (PTSD). We therefore proposed to evaluate the neurobiological effects of eye movement desensitization and reprocessing (EMDR) on 19 patients with drug-naïve PTSD without comorbidity, matched with 19 untreated healthy controls. METHODS: We administered the Clinician Administered PTSD Scale (CAPS) and conducted brain MRI measurements (with Optimized Voxel-Based Morphometry). Patients received 12 EMDR sessions over three months. Then patients and controls were reassessed. RESULTS: At baseline, grey matter volume (GMV) differed significantly between patients and controls (F 1,35 =3.674; p=.008; η 2=.298). Analyses of 3-month scans showed no changes for controls, while significant changes were highlighted for patients post-EMDR, with a significant increase in GMV in left parahippocampal gyrus, and a significant decrease in GMV in the left thalamus region. The diagnosis of PTSD was effectively eliminated in 16 of 19 patients, reflected in a significant improvement on the CAPS (t(35)=2.132, p<.004). DISCUSSION AND CONCLUSIONS: Results indicated post-EMDR changes for patients in brain morphology. We discuss whether EMDR's mechanism of action may work at the level of the thalamus, an area implicated in PTSD pathology.


Asunto(s)
Desensibilización y Reprocesamiento del Movimiento Ocular , Imagen por Resonancia Magnética , Giro Parahipocampal/diagnóstico por imagen , Trastornos por Estrés Postraumático/diagnóstico por imagen , Trastornos por Estrés Postraumático/terapia , Adolescente , Adulto , Anciano , Estudios de Casos y Controles , Desensibilización y Reprocesamiento del Movimiento Ocular/métodos , Femenino , Humanos , Imagen por Resonancia Magnética/métodos , Masculino , Persona de Mediana Edad , Giro Parahipocampal/patología , Trastornos por Estrés Postraumático/diagnóstico , Encuestas y Cuestionarios , Resultado del Tratamiento
16.
Neuroreport ; 15(2): 293-6, 2004 Feb 09.
Artículo en Inglés | MEDLINE | ID: mdl-15076755

RESUMEN

In a drug-resistant epilepsy patient with continuous forearm/hand positive myoclonia due to a focal cortical dysplasia of the right motor cortex, cortical jerk-related and electromyographic activity were recorded for 15 min before and after 1 Hz rTMS (15 min, 10% below the resting excitability threshold) of the right motor cortex. A stable negative cortical spike, time-locked with contralateral muscle jerks (60 > 100 microV), was detected only at perirolandic electrodes (maximal amplitudes: block 1 = 21.3 microV, block 2 = 22 microV, block 3 = 25.9 microV). After rTMS, only 20 muscle jerks accomplished the criterion of > 100 microV; blind back-averaging of these disclosed a topographically similar cortical spike, but with amplitude reduced by at least 50% (11.2 microV). This represents in vivo evidence of the possibility to selectively modulate the activity of an epileptic focus by intervening with local low-frequency rTMS.


Asunto(s)
Terapia por Estimulación Eléctrica/métodos , Epilepsia/terapia , Magnetismo/uso terapéutico , Corteza Motora/anomalías , Mioclonía/terapia , Potenciales de Acción/fisiología , Adulto , Mapeo Encefálico , Electroencefalografía , Campos Electromagnéticos , Epilepsia/complicaciones , Epilepsia/fisiopatología , Femenino , Lateralidad Funcional/fisiología , Humanos , Imagen por Resonancia Magnética , Corteza Motora/patología , Corteza Motora/fisiopatología , Músculo Esquelético/inervación , Músculo Esquelético/fisiopatología , Mioclonía/etiología , Mioclonía/fisiopatología , Resultado del Tratamiento
17.
J Neurol ; 251(5): 548-55, 2004 May.
Artículo en Inglés | MEDLINE | ID: mdl-15164187

RESUMEN

BACKGROUND: Idiopathic hypertrophic cranial pachymeningitis (IHCP) is a rare, poorly understood, inflammatory disease, usually involving the dura mater of skull base, tentorium, and falx, and presenting with headache, progressive cranial nerve palsies, and cerebellar dysfunction. PATIENTS AND METHODS: In four patients, the diagnosis of IHCP has been made on the basis of extensive clinical, and radiological investigation, and confirmed by dural biopsy in three patients. The clinical follow-up ranges from 24 to 120 months. RESULTS: At diagnosis, all the patients complained of severe, progressively increasing headache, two had simple or complex partial seizures, but none had cranial nerve palsies. Two patients had electrophysiological evidence of axonal peripheral neuropathy, biopsy-proved in one of them. In all the patients, MRI showed linear or focal thickening of the dura mater of the tentorium and/or of the convexity, sparing the skull base. In one patient, MRI findings resembled chronic subdural hematoma. Dural biopsy demonstrated fibrosis and prominent CD4+ T-cells inflammatory infiltrate. Pachymeningitis was highly responsive to steroid therapy, as was the peripheral neuropathy. In three patients, temporary steroids withdrawal led to dramatic clinical worsening including status epilepticus in one. CONCLUSIONS: In the patients here reported, absence of cranial nerve impairment, seizures, MRI findings resembling chronic subdural hematoma, and association with polineuropathy were unusual findings of IHCP. Moreover, the type of inflammatory infiltrate, lacking in previous reported cases, suggests a probable pathogenetic role for cell-mediated immunity of unknown origin.


Asunto(s)
Duramadre/patología , Meningitis , Cráneo/patología , Anciano , Linfocitos T CD4-Positivos/metabolismo , Linfocitos T CD8-positivos/metabolismo , Enfermedades de los Nervios Craneales/diagnóstico , Enfermedades de los Nervios Craneales/terapia , Electroencefalografía/métodos , Electrofisiología , Femenino , Estudios de Seguimiento , Lateralidad Funcional , Histología , Terapia de Reemplazo de Hormonas/métodos , Humanos , Imagen por Resonancia Magnética , Masculino , Meningitis/diagnóstico , Meningitis/patología , Meningitis/fisiopatología , Meningitis/terapia , Persona de Mediana Edad , Factores de Tiempo
18.
Brain Dev ; 26(7): 490-3, 2004 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-15351089

RESUMEN

Hot water epilepsy (HWE) refers to a specific type of reflex epilepsy precipitated by the stimulus of bathing in hot water. HWE is considered to be a geographically specific epileptic syndrome since it mainly occurs in the Indian community. Spontaneous seizures may also occur later in life. The seizure pattern includes complex partial attacks. Although the pathogenesis of HWE is still unknown, temporal lobe has been thought to take part in the epileptogenesis. This paper reports on a 4-year-old girl who, at the age of 6 months, experienced complex partial seizures triggered by bathing in hot water. Non-provoked seizures intercritical EEG showed isolated spikes and spike-and-waves in the left parietal region. Brain MRI detected a left parietal focal cortical dysplasia. This is the second patient with HWE in whom a cortical malformation has been observed. The observation present here and data reported in the literature seem to indicate that the sensory cortex might also be involved in triggering seizures precipitated by a bath in hot water. Moreover, the authors believe that MRI examination should be considered for this group of patients.


Asunto(s)
Epilepsia Refleja/etiología , Epilepsia Refleja/patología , Fructosa/análogos & derivados , Calor/efectos adversos , Malformaciones del Sistema Nervioso/complicaciones , Malformaciones del Sistema Nervioso/patología , Lóbulo Parietal/anomalías , Anticonvulsivantes/uso terapéutico , Preescolar , Electroencefalografía , Epilepsia Refleja/fisiopatología , Femenino , Fructosa/uso terapéutico , Lateralidad Funcional/fisiología , Humanos , Imagen por Resonancia Magnética , Malformaciones del Sistema Nervioso/fisiopatología , Lóbulo Parietal/patología , Lóbulo Parietal/fisiopatología , Estimulación Física , Corteza Somatosensorial/anomalías , Corteza Somatosensorial/patología , Corteza Somatosensorial/fisiopatología , Trastornos Somatosensoriales/etiología , Trastornos Somatosensoriales/patología , Trastornos Somatosensoriales/fisiopatología , Sensación Térmica/fisiología , Topiramato , Resultado del Tratamiento
19.
PLoS One ; 9(10): e108359, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-25330321

RESUMEN

Several cross-sectional studies have documented neuroanatomical changes in individuals with a long history of meditation, while a few evidences are available about the interaction between neuroanatomical and psychological changes even during brief exposure to meditation. Here we analyzed several morphometric indexes at both cortical and subcortical brain level, as well as multiple psychological dimensions, before and after a brief -8 weeks- Mindfulness Based Stress Reduction (MBSR) training program, in a group of 23 meditation naïve-subjects compared to age-gender matched subjects. We found a significant cortical thickness increase in the right insula and the somatosensory cortex of MBSR trainees, coupled with a significant reduction of several psychological indices related to worry, state anxiety, depression and alexithymia. Most importantly, an interesting correlation between the increase in right insula thickness and the decrease in alexithymia levels during the MBSR training were observed. Moreover, a multivariate pattern classification approach allowed to identify a cluster of regions more responsive to MBSR training across subjects. Taken together, these findings documented the significant impact of a brief MBSR training on brain structures, as well as stressing the idea of MBSR as a valuable tool for alexithymia modulation, also originally providing a plausible neurobiological evidence of a major role of right insula into mediating the observed psychological changes.


Asunto(s)
Encéfalo/anatomía & histología , Atención Plena , Psicología , Adulto , Encéfalo/fisiología , Femenino , Humanos , Masculino , Meditación/psicología , Neuroanatomía , Tamaño de los Órganos
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