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1.
Science ; 367(6482): 1131-1134, 2020 03 06.
Artículo en Inglés | MEDLINE | ID: mdl-32139543

RESUMEN

Episodic memory retrieval is thought to rely on the replay of past experiences, yet it remains unknown how human single-unit activity is temporally organized during episodic memory encoding and retrieval. We found that ripple oscillations in the human cortex reflect underlying bursts of single-unit spiking activity that are organized into memory-specific sequences. Spiking sequences occurred repeatedly during memory formation and were replayed during successful memory retrieval, and this replay was associated with ripples in the medial temporal lobe. Together, these data demonstrate that human episodic memory is encoded by specific sequences of neural activity and that memory recall involves reinstating this temporal order of activity.


Asunto(s)
Memoria Episódica , Recuerdo Mental/fisiología , Lóbulo Temporal/fisiología , Adulto , Electroencefalografía , Femenino , Humanos , Masculino
2.
Medicine (Baltimore) ; 99(9): e19384, 2020 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-32118787

RESUMEN

RATIONALE: Anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis is an autoimmune disease that is associated with cell-surface NMDAR-targeting autoantibodies. Typical anti-NMDAR encephalitis symptoms include psychosis, seizure and extrapyramidal side effects. However, early diagnosis of anti-NMDAR encephalitis remains challenging due to the complexity of the motor phenomenon. PATIENT CONCERNS: Here, we report a new diagnosis of anti-NMDAR encephalitis in a young woman with a history of epilepsy. DIAGNOSES: Electroencephalography revealed a typical "extreme delta brush" pattern, which indicated anti-NMDAR encephalitis. INTERVENTIONS: The clinical status of the patient markedly improved after immediate and aggressive immunosuppression therapies. OUTCOMES: The patient was discharged with mild cognitive impairment. However, this was completely resolved 1 month postdischarge. LESSONS: We conclude that subacute onset focal seizure with psychosis as well as compatible electroencephalography findings (i.e., extreme delta brush patterns) should be considered notable early indicators of anti-NMDAR encephalitis. This would ensure early and effective clinical interventions, which are essential for favorable outcomes.


Asunto(s)
Encefalitis Antirreceptor N-Metil-D-Aspartato/fisiopatología , Electroencefalografía/métodos , Encefalitis Antirreceptor N-Metil-D-Aspartato/diagnóstico , Femenino , Humanos , Convulsiones/diagnóstico , Convulsiones/fisiopatología , Adulto Joven
3.
Zhong Nan Da Xue Xue Bao Yi Xue Ban ; 45(1): 47-54, 2020 Jan 28.
Artículo en Inglés, Chino | MEDLINE | ID: mdl-32132297

RESUMEN

OBJECTIVES: To analyze the clinical characteristics and prognosis of children with anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis and to provide a basis for early clinical identification of this disease. METHODS: The clinical data of 42 cases of anti-NMDAR encephalitis at Department of Pediatrics, Second Xiangya Hospital, Central South University from January 2015 to March 2018 were collected. The clinical features and followed-up outcomes were analyzed retrospectively. RESULTS: There were 15 cases (35.7%) of males and 27 cases (64.3%) of females in 42 children, with a ratio of 1꞉1.8. They were aged from 4 months to 17 years, with an average of (9.20±4.66) years. The most common initial symptoms were seizures (47.6%, 20/42) and mental behavior disorder (35.7%, 15/42). During the course of the disease, 85.7% patients(36/42) had mental and behavior disorder, 85.7% patients (36/42) had epilepsy, 76.2% (32/42) had speech disorder, 66.7% patients (28/42) had dyskinesia, 66.7% patients (28/42) had the decreased level of consciousness, 61.9% patients (26/42) had autonomic instability, and 57.1% (24/42) patients had sleep disorder. All the children had positive antibody against NMDA receptor resistance encephalitis in cerebrospinal fluid. Head MRI showed the abnormal incidence was 50.0% (21/42), and the lesions involved in parietal lobe, frontal lobe, temporal lobe, occipital lobe, midbrain, thalamus, basal ganglia and optic nerve. There was a patient with optic nerve damage combined with myelin oligodendrocyte glycoprotein (MOG) antibody positive. Forty cases were examined by electroencephalogram (EEG), 92.5% cases (37/40) were abnormal, mainly showing diffuse slow waves, and δ brushes could be seen in severe cases. And there was 1 patient (2.4%) complicated with mesenteric teratoma. The mRS score (2.14±1.46) at discharge was significantly lower than the highest mRS score (3.88±1.38) during hospitalization (P<0.05). After 3-39 months of follow-up, mRS score at 3 months after discharge was only 0.81±1.29, which was still improved compared with that at discharge, 76.2% cases (32/42) experienced complete or near-complete recovery (mRS score≤2), and 4.8% (2/42) cases relapsed. There was no mortality; the initial time of immunotherapy and the highest mRS score in the course of the disease were the factors affecting the prognosis. The earlier the starting time for immunotherapy and the lower mRS score in the course of the disease were, the better the prognosis was. CONCLUSIONS: Seizures, mental and behavior disorder, dyskinesias, speech disorder and autonomic instability are common clinical manifestations of anti-NMDAR encephalitis in children. The effect of immunotherapy is significant, and the time to start immunotherapy and the severity of the disease are important factors affecting the prognosis. Anti-NMDAR encephalitis can be combined with other autoantibodies, but its clinical significance and mechanism need further study.


Asunto(s)
Encefalitis Antirreceptor N-Metil-D-Aspartato , Adolescente , Autoanticuerpos , Niño , Preescolar , Electroencefalografía , Femenino , Humanos , Lactante , Imagen por Resonancia Magnética , Masculino , Receptores de N-Metil-D-Aspartato , Estudios Retrospectivos
4.
J Assoc Physicians India ; 68(3): 39-42, 2020 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-32138482

RESUMEN

Aims and Objectives: 1. To assess clinical profile of patients presenting with seizures, 2. To determine the etiological factors of seizures, 3. To evaluate role of computed tomography scan in diagnosis of seizures. Methods: The present study was conducted in 100 cases of age more than 12 years and seizure onset after age of 12 years. The study included patients admitted for other medical conditions and developing seizure during hospital stay. Clinical data and CT scan brain report was collected and analyzed to derive the etiological diagnosis for the seizures. Results: Mean age of the patients was 44 years, ranging from 13-90 years; with a male: female ratio of 1.2:1. Headache, vomiting, fever were important associated non-convulsive symptoms of which headache was most common in 41% cases. Altered sensorium (30 cases) and focal neurological deficits (21 cases) were the most important neurological signs. Generalized tonic-clonic seizure (GTCS) was the most common type of seizure (63%) than partial seizures (37%). The aetiologies found for GTCS were alcohol abuse, CVA, infections and poisonings. In most cases of partial seizures, the aetiology was found to be brain tumour, infections and post traumatic seizures. CT brain was abnormal in 54% cases and normal in 43% cases; abnormal CT brain reports were more common in partial seizures (73%) as compared to GTCS (43%). Conclusion: Imaging is the most important factors determining the aetiology of seizures so as to guide the further treatment of the patient.


Asunto(s)
Convulsiones/diagnóstico por imagen , Tomografía Computarizada por Rayos X , Adulto , Electroencefalografía , Femenino , Cefalea , Humanos , Masculino , Neuroimagen
5.
Zhonghua Er Ke Za Zhi ; 58(2): 118-122, 2020 Feb 02.
Artículo en Chino | MEDLINE | ID: mdl-32102148

RESUMEN

Objective: To summarize the clinical phenotypes of epilepsy in patients with GABRA1 gene variants. Methods: A total of 11 epileptic patients (4 boys and 7 girls) who were treated in the Department of Pediatrics, Peking University First Hospital from March 2016 to July 2019 and detected with GABRA1 gene heterozygous pathogenic variants by targeted next-generation sequencing were enrolled. The features of clinical manifestations, electroencephalogram (EEG), and neuroimaging were analyzed retrospectively. Results: A total of 11 epileptic patients carried GABRA1 gene pathogenic variants, of whom 10 were de novo variants and the other one was inherited from the patient's mother. Two patients had the same variants. Six variants were novel. Ages at seizure onset ranged from 3 to 14 months, and the median age was 8 months. The seizure was first observed within 1 year in 10 patients and beyond 1 year of age in 1 patient. Multiple seizure types were observed, including focal seizures in 10 patients, generalized tonic clonic seizures (GTCS) in 3 patients, myoclonic seizures in 3 patients, and epileptic spasm in 2 patients. There were 5 patients with multiple seizure types. Sensitivity to fever was observed in 9 patients, among whom 6 patients had a history of status epilepticus. Two patients had photoparoxysmal response. Five patients had abnormal EEG background, and 6 patients had abnormal discharges in EEG during interictal phase. Brain magnetic resonance imaging (MRI) was normal in all patients. Developmental delay in various degrees was present in 9 patients. Among the 11 patients, Dravet syndrome was diagnosed in 5 patients, West syndrome in 2 patients, undiagnosed early-onset epileptic encephalopathy in 1 patient, and focal epilepsy in the other 3 patients. The ages at the last follow-up ranged from 8 months to 12 years. During follow-up, 8 patients were seizure-free for 6 months to 8 years, and 1 patient had discontinuation of medication. Conclusions: In epilepsy associated with GABRA1 gene variants, de novo pathogenic variants are more common than inherited. Most epilepsy caused by GABRA1 gene variants occurs in infancy. Most patients have multiple seizures and focal seizures are common. Most patients have a comparatively favorable prognosis, but they may still have varied degrees of developmental delay.


Asunto(s)
Encéfalo/diagnóstico por imagen , Discapacidades del Desarrollo/genética , Epilepsia/diagnóstico , Epilepsia/genética , Convulsiones/etiología , Niño , Preescolar , Discapacidades del Desarrollo/etiología , Electroencefalografía , Epilepsia/diagnóstico por imagen , Femenino , Humanos , Lactante , Masculino , Neuroimagen , Fenotipo , Receptores de GABA-A , Estudios Retrospectivos , Espasmos Infantiles/diagnóstico
6.
Sheng Wu Yi Xue Gong Cheng Xue Za Zhi ; 37(1): 38-44, 2020 Feb 25.
Artículo en Chino | MEDLINE | ID: mdl-32096375

RESUMEN

The research on brain functional mechanism and cognitive status based on brain network has the vital significance. According to a time-frequency method, partial directed coherence (PDC), for measuring directional interactions over time and frequency from scalp-recorded electroencephalogram (EEG) signals, this paper proposed dynamic PDC (dPDC) method to model the brain network for motor imagery. The parameters attributes (out-degree, in-degree, clustering coefficient and eccentricity) of effective network for 9 subjects were calculated based on dataset from BCI competitions IV in 2008, and then the interaction between different locations for the network character and significance of motor imagery was analyzed. The clustering coefficients for both groups were higher than those of the random network and the path length was close to that of random network. These experimental results show that the effective network has a small world property. The analysis of the network parameter attributes for the left and right hands verified that there was a significant difference on ROI2 ( P = 0.007) and ROI3 ( P = 0.002) regions for out-degree. The information flows of effective network based dPDC algorithm among different brain regions illustrated the active regions for motor imagery mainly located in fronto-central regions (ROI2 and ROI3) and parieto-occipital regions (ROI5 and ROI6). Therefore, the effective network based dPDC algorithm can be effective to reflect the change of imagery motor, and can be used as a practical index to research neural mechanisms.


Asunto(s)
Encéfalo/fisiología , Electroencefalografía , Imaginación , Algoritmos , Mapeo Encefálico , Humanos
7.
Sheng Wu Yi Xue Gong Cheng Xue Za Zhi ; 37(1): 45-53, 2020 Feb 25.
Artículo en Chino | MEDLINE | ID: mdl-32096376

RESUMEN

Cognitive impairment is one of the three primary symptoms of schizophrenic patients and shows important value in early detection and warning for high-risk individuals. To study the specifics of electroencephalogram (EEG) in patients with schizophrenia under the cognitive load, we collected EEG signals from 17 schizophrenic patients and 19 healthy controls, extracted signals of each band based on wavelet transform, calculated the characteristics of nonlinear dynamic and functional brain networks, and automatically classified the two groups of people by using a machine learning algorithm. Experimental results indicated that the correlation dimension and sample entropy showed significant differences in α, ß, θ, and γ rhythm of the Fp1 and Fp2 electrodes between groups under the cognitive load. These results implied that the functional disruptions in the frontal lobe might be the important factors of cognitive impairments in schizophrenic patients. Further results of the automatic classification analysis indicated that the combination of nonlinear dynamics and functional brain network properties as the input characteristics of the classifier showed the best performance, with the accuracy of 76.77%, sensitivity of 72.09%, and specificity of 80.36%. The results of this study demonstrated that the combination of nonlinear dynamics and function brain network properties may be potential biomarkers for early screening and auxiliary diagnosis of schizophrenia.


Asunto(s)
Cognición , Electroencefalografía , Esquizofrenia/diagnóstico por imagen , Procesamiento de Señales Asistido por Computador , Humanos , Dinámicas no Lineales
8.
Sheng Wu Yi Xue Gong Cheng Xue Za Zhi ; 37(1): 54-60, 2020 Feb 25.
Artículo en Chino | MEDLINE | ID: mdl-32096377

RESUMEN

Sub-threshold depression refers to a psychological sub-health state that fails to meet the diagnostic criteria for depression. Appropriate intervention can improve the state and reduce the risks of disease development. In this paper, we focus on music neurofeedback stimulation improving emotional state of sub-threshold depression college students.Twenty-four college students with sub-threshold depression participated in the experiment, 16 of whom were members of the experimental group. Decompression music based on spectrum classification was applied to 16 experimental group participants for 10 min/d music neural feedback stimulation with a period of 14 days, and no stimulation was applied to 8 control group participants. Three feature parameters of electroencephalogram (EEG) relative power, sample entropy and complexity were extracted for analysis. The results showed that the relative power of αã€ß and θ rhythm increased, while δ rhythm decreased after the stimulation of musical nerofeedback in the experimental group. The sample entropy and complexity were significantly increased after the stimulation, and the differences of these parameters pre and post stimulation were statistically significant ( P < 0.05), while the differences of all feature parameters in the control group were not statistically significant. In the experimental group, the scores of self-rating depression scale(SDS) decreased after the stimulation of musical nerofeedback, indicating that the depression was improved. The result of this study showed that music neurofeedback stimulation can improve sub-threshold depression and may provides an effective new way for college students to self-regulation of emotion.


Asunto(s)
Depresión/terapia , Música , Neurorretroalimentación , Electroencefalografía , Humanos , Estudiantes
9.
Cell Physiol Biochem ; 54(2): 180-194, 2020 Feb 19.
Artículo en Inglés | MEDLINE | ID: mdl-32068980

RESUMEN

BACKGROUND/AIMS: Still in 1999 the first hints were published for the pharmacoresistant Cav2.3 calcium channel to be involved in the generation of epileptic seizures, as transcripts of alpha1E (Cav2.3) and alpha1G (Cav3.1) are changed in the brain of genetic absence epilepsy rats from Strasbourg (GAERS). Consecutively, the seizure susceptibility of mice lacking Cav2.3 was analyzed in great detail by using 4-aminopyridine, pentylene-tetrazol, N-methyl-D-aspartate and kainic acid to induce experimentally convulsive seizures. Further, γ-hydroxybutyrolactone was used for the induction of non-convulsive absence seizures. For all substances tested, Cav2.3-competent mice differed from their knockout counterparts in the sense that for convulsive seizures the deletion of the pharmacoresistant channel was beneficial for the outcome during experimentally induced seizures [1]. The antiepileptic drug lamotrigine reduces seizure activity in Cav2.3-competent but increases it in Cav2.3-deficient mice. In vivo, Cav2.3 must be under tight control by endogenous trace metal cations (Zn2+ and Cu2+). The dyshomeostasis of either of them, especially of Cu2+, may alter the regulation of Cav2.3 severely and its activity for Ca2+ conductance, and thus may change hippocampal and neocortical signaling to hypo- or hyperexcitation. METHODS: To investigate by telemetric EEG recordings the mechanism of generating hyperexcitation by kainate, mice were tested for their sensitivity of changes in neuronal (intracerebroventricular) concentrations of the trace metal cation Zn2+. As the blood-brain barrier limits the distribution of bioavailable Zn2+ or Cu2+ into the brain, we administered micromolar Zn2+ ions intracerebroventricularly in the presence of 1 mM histidine as carrier and compared the effects on behavior and EEG activity in both genotypes. RESULTS: Kainate seizures are more severe in Cav2.3-competent mice than in KO mice and histidine lessens seizure severity in competent but not in Cav2.3-deficient mice. Surprisingly, Zn2+ plus histidine resembles the kainate only control with more seizure severity in Cav2.3-competent than in deficient mice. CONCLUSION: Cav2.3 represents one important Zn2+-sensitive target, which is useful for modulating convulsive seizures.


Asunto(s)
Canales de Calcio Tipo R/metabolismo , Proteínas de Transporte de Catión/metabolismo , Convulsiones/tratamiento farmacológico , Zinc/uso terapéutico , Animales , Canales de Calcio Tipo R/genética , Proteínas de Transporte de Catión/genética , Electroencefalografía , Hipocampo/efectos de los fármacos , Hipocampo/metabolismo , Histidina/farmacología , Iones/química , Ácido Kaínico/toxicidad , Ratones , Ratones Endogámicos C57BL , Ratones Noqueados , Convulsiones/inducido químicamente , Convulsiones/patología , Índice de Severidad de la Enfermedad , Zinc/farmacología , Ácido gamma-Aminobutírico/metabolismo
10.
Medicine (Baltimore) ; 99(5): e18441, 2020 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-32000357

RESUMEN

Various methods of assessing the depth of anesthesia (DoA) and reducing intraoperative awareness during general anesthesia have been extensively studied in anesthesiology. However, most of the DoA monitors do not include brain activity signal modeling. Here, we propose a new algorithm termed the cortical activity index (CAI) based on the brain activity signals. In this study, we enrolled 32 patients who underwent laparoscopic cholecystectomy. Raw electroencephalography (EEG) signals were acquired at a sampling rate of 128 Hz using BIS-VISTA with standard bispectral index (BIS) sensors. All data were stored on a computer for further analysis. The similarities and difference among spectral entropy, the BIS, and CAI were analyzed. Pearson correlation coefficient between the BIS and CAI was 0.825. The result of fitting the semiparametric regression models is the method CAI estimate (-0.00995; P = .0341). It is the estimated difference in the mean of the dependent variable between method BIS and CAI. The CAI algorithm, a simple and intuitive algorithm based on brain activity signal modeling, suggests an intrinsic relationship between the DoA and the EEG waveform. We suggest that the CAI algorithm might be used to quantify the DoA.


Asunto(s)
Algoritmos , Anestesia , Anestésicos/farmacología , Corteza Cerebral/efectos de los fármacos , Electroencefalografía , Adulto , Colecistectomía Laparoscópica , Femenino , Humanos , Masculino , Persona de Mediana Edad
11.
Adv Exp Med Biol ; 1191: 35-59, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32002921

RESUMEN

Electrocortical network dynamics are integral to brain function. Linear and nonlinear connectivity applications enrich neurophysiological investigations into anxiety disorders. Discrete EEG-based connectivity networks are unfolding with some homogeneity for anxiety disorder subtypes. Attenuated delta/theta/beta connectivity networks, pertaining to anterior-posterior nodes, characterize panic disorder. Nonlinear measures suggest reduced connectivity of ACC as an executive neuro-regulator in germane "fear circuitry networks" might be more central than considered. Enhanced network complexity and theta network efficiency at rest define generalized anxiety disorder, with similar tonic hyperexcitability apparent in social anxiety disorder further extending to task-related/state functioning. Dysregulated alpha connectivity and integration of mPFC-ACC/mPFC-PCC relays implicated with attentional flexibility and choice execution/congruence neurocircuitry are observed in trait anxiety. Conversely, state anxiety appears to recruit converging delta and beta connectivity networks as panic, suggesting trait and state anxiety are modulated by discrete neurobiological mechanisms. Furthermore, EEG connectivity dynamics distinguish anxiety from depression, despite prevalent clinical comorbidity. Rethinking mechanisms implicated in the etiology, maintenance, and treatment of anxiety from the perspective of EEG network science across micro- and macroscales serves to shed light and move the field forward.


Asunto(s)
Trastornos de Ansiedad/fisiopatología , Encéfalo/fisiopatología , Electroencefalografía , Red Nerviosa , Trastornos de Ansiedad/diagnóstico , Trastorno Depresivo/diagnóstico , Trastorno Depresivo/fisiopatología , Miedo , Humanos
12.
Adv Exp Med Biol ; 1191: 265-289, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32002934

RESUMEN

Biofeedback refers to the operant training of physiological responding. Variants include electromyography (EMG), electrodermal activity (EDA), skin temperature, heart rate (HR) and heart rate variability (HRV), respiratory biofeedback of end-tidal CO2 (ETCO2), electroencephalography (EEG) signal, and blood oxygen-level dependent signal using functional magnetic resonance imaging (fMRI). This chapter presents a qualitative and quantitative systematic review of randomized controlled trials of biofeedback for anxiety disorders as defined by the 3rd through 5th editions of the Diagnostic and Statistical Manual of Mental Disorders (DSM). Meta-analytic results indicated that biofeedback (broadly defined) is superior to wait list, but has not been shown to be superior to active treatment conditions or to conditions in which patients are trained to change their physiological responding in a countertherapeutic direction. Thus, although biofeedback appears generally efficacious for anxiety disorders, the specific effects of biofeedback cannot be distinguished from nonspecific effects of treatment. Further, significant limitations were identified in the existing literature, with the majority receiving a "weak" rating according to Effective Public Health Practice Project (EPHPP) rating system guidelines. Future directions for research are discussed.


Asunto(s)
Trastornos de Ansiedad/terapia , Biorretroalimentación Psicológica , Neurorretroalimentación , Electroencefalografía , Electromiografía , Frecuencia Cardíaca , Humanos , Temperatura Cutánea
14.
Zhonghua Yi Xue Za Zhi ; 100(2): 136-140, 2020 Jan 14.
Artículo en Chino | MEDLINE | ID: mdl-31937054

RESUMEN

Objective: Tuberous sclerosis complex (TSC) is a multi-system disease with TSC1 and TSC2 genes as the pathogenic genes. The purpose of our study was to analyze the gene mutation in patients with TSC with epilepsy as the main clinical manifestation. The relationship between genotype and phenotype, scalp EEG in patients was analyzed. Methods: The peripheral blood was extracted from 43 patients and their families. TSC gene was detected by second-generation sequencing. Long-term video EEG monitoring and MRI examination were performed to determine the onset area, seizure type and location of nodules. Results: 39 patients had TSC gene mutation, 4 patients did not detect the gene mutation.11 had TSC1 mutations and 28 had TSC2 mutations. 22 mutations were de novo. Patients with TSC2 mutations had earlier seizure and more nodules than patients with TSC1 mutations, but no significant difference in intelligence and spasm were observed. 28 patients had focal origin of scalp EEG, of which 85.7% of TSC2 mutations patients had focal origin. Conclusions: Patients of TSC2 mutations always has an early onset age. Although MRI shows multiple nodules, the onset of EEG is mainly focal origin.


Asunto(s)
Esclerosis Tuberosa , Análisis Mutacional de ADN , Electroencefalografía , Genotipo , Humanos , Mutación , Fenotipo , Proteína 1 del Complejo de la Esclerosis Tuberosa , Proteína 2 del Complejo de la Esclerosis Tuberosa
17.
Fortschr Neurol Psychiatr ; 88(1): 52-63, 2020 Jan.
Artículo en Alemán | MEDLINE | ID: mdl-31986552

RESUMEN

Neuromonitoring by means of continuous EEG (cEEG) has been increasingly used in intensive care patients. Standardized EEG criteria can be used to reliably detect and distinguish nonconvulsive seizures or status epileptici as well as rhythmic and periodic ictal-interictal continuum EEG patterns. Likewise, cerebral ischemia can be detected early by means of cEEG, and sedation and therapy management can be monitored and controlled.


Asunto(s)
Cuidados Críticos/métodos , Electroencefalografía , Monitoreo Fisiológico/métodos , Isquemia Encefálica/diagnóstico , Isquemia Encefálica/terapia , Diagnóstico Precoz , Humanos , Convulsiones/diagnóstico , Estado Epiléptico/diagnóstico , Estado Epiléptico/terapia
18.
BMC Med Genet ; 21(1): 10, 2020 01 08.
Artículo en Inglés | MEDLINE | ID: mdl-31914951

RESUMEN

BACKGROUND: The role of deleterious copy number variations in schizophrenia is well established while data regarding pathogenic variations remain scarce. We report for the first time a case of schizophrenia in a child with a pathogenic mutation of the chromodomain helicase DNA binding protein 2 (CHD2) gene. CASE PRESENTATION: The proband was the second child of unrelated parents. Anxiety and sleep disorders appeared at the age of 10 months. He presented febrile seizures and, at the age of 8, two generalized tonic-clonic seizures. At the age of 10, emotional withdrawal emerged, along with a flat affect, disorganization and paranoid ideation, without seizures. He began to talk and giggle with self. Eventually, the patient presented daily auditory and visual hallucinations. The diagnosis of childhood onset schizophrenia (DSM V) was then evoked. Brain imaging was unremarkable. Wakefulness electroencephalography showed a normal background and some bilateral spike-wave discharges that did not explain the psychosis features. A comparative genomic hybridization array (180 K, Agilent, Santa Clara, CA, USA) revealed an 867-kb 16p13.3 duplication, interpreted as a variant of unknown significance confirmed by a quantitative PCR that also showed its maternal inheritance. Risperidone (1,5 mg per day), led to clinical improvement. At the age of 11, an explosive relapse of epilepsy occurred with daily seizures of various types. The sequencing of a panel for monogenic epileptic disorders and Sanger sequencing revealed a de novo pathogenic heterozygous transition in CHD2 (NM_001271.3: c.4003G > T). CONCLUSIONS: This case underlines that schizophrenia may be, sometimes, underpinned by a Mendelian disease. It addresses the question of systematic genetic investigations in the presence of warning signs such as a childhood onset of the schizophrenia or a resistant epilepsy. It points that, in the absence of pathogenic copy number variation, the investigations should also include a search for pathogenic variations, which means that some of the patients with schizophrenia should benefit from Next Generation Sequencing tools. Last but not least, CHD2 encodes a member of the chromodomain helicase DNA-binding (CHD) family involved in chromatin remodeling. This observation adds schizophrenia to the phenotypic spectrum of chromodomain remodeling disorders, which may lead to innovative therapeutic approaches.


Asunto(s)
Variaciones en el Número de Copia de ADN/genética , Proteínas de Unión al ADN/genética , Esquizofrenia/genética , Encéfalo/metabolismo , Encéfalo/patología , Niño , Cromatina/genética , Ensamble y Desensamble de Cromatina/genética , Electroencefalografía , Femenino , Heterocigoto , Humanos , Masculino , Mutación , Fenotipo , Esquizofrenia/fisiopatología , Convulsiones Febriles/genética , Convulsiones Febriles/patología
19.
Int Heart J ; 61(1): 128-137, 2020 Jan 31.
Artículo en Inglés | MEDLINE | ID: mdl-31956144

RESUMEN

Sleep and estrogen levels have an impact on neural regulation and are associated with cardiovascular (CV) events. We investigated the effects of estrogen on heart rate variability (HRV) and circadian cycle in spontaneously hypertensive rats (SHRs). Polysomnographic recording was performed in seven male and seven female SHRs during sleep. The electroencephalogram (EEG) and electromyogram (EMG) were evaluated to define active waking (AW), quiet sleep (QS), and paradoxical sleep (PS) stages. Cardiac activities were measured by RR interval of the electrocardiogram (ECG), mean arterial pressure (MAP), and power spectrum of HRV.In ECG, estrogen prolonged the RR interval in total sleep when compared with that at baseline in male SHRs (203.74 ± 6.61 versus 181.30 ± 8.06 ms, P < 0.001) and in female SHRs (169.21 ± 6.43 versus 160.76 ± 10.66 ms, P < 0.05). In HRV, the estrogen increased the high frequency (HF) in total sleep when compared with that at baseline in male SHRs (1.03 ± 0.28 versus 0.60 ± 0.43 ln (ms2), P < 0.001) and in female SHRs (0.71 ± 0.26 versus 0.42 ± 0.19 ln (ms2), P < 0.05).In male SHRs, estrogen increased the frequency of QS (26.50 ± 4.85 versus 20.79 ± 5.07, P < 0.01) and PS (25.64 ± 5.18 versus 20.14 ± 4.75, P < 0.05) stages when compared with baseline. In female SHRs, estrogen increased the percentage of delta waves in total sleep (79.87% ± 3.10% versus 76.71% ± 2.74%, P < 0.05) when compared with that at baseline.In HRV, estrogen leads to neuromodulation by increased parasympathetic tone in all SHRs, suggesting a lower risk to CV events. In sleep analyses, estrogen in male SHRs caused poor sleep quality. In contrast, estrogen in female SHRs demonstrated improved quality of sleep and decreased risk of hypertension.


Asunto(s)
Sistema Nervioso Autónomo/efectos de los fármacos , Estrógenos/administración & dosificación , Sueño/efectos de los fármacos , Animales , Relojes Circadianos/efectos de los fármacos , Electrocardiografía , Electroencefalografía , Estrógenos/farmacología , Femenino , Frecuencia Cardíaca/efectos de los fármacos , Masculino , Polisomnografía , Ratas , Ratas Endogámicas SHR
20.
Adv Exp Med Biol ; 1232: 11-17, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-31893388

RESUMEN

In the adult brain, it is well known that increases in local neural activity trigger changes in regional blood flow and, thus, changes in cerebral energy metabolism. This regulation mechanism is called neurovascular coupling (NVC). It is not yet clear to what extent this mechanism is present in the premature brain. In this study, we explore the use of transfer entropy (TE) in order to compute the nonlinear coupling between changes in brain function, assessed by means of EEG, and changes in brain oxygenation, assessed by means of near-infrared spectroscopy (NIRS). In a previous study, we measured the coupling between both variables using a linear model to compute TE. The results indicated that changes in brain oxygenation were likely to precede changes in EEG activity. However, using a nonlinear and nonparametric approach to compute TE, the results indicate an opposite directionality of this coupling. The source of the different results provided by the linear and nonlinear TE is unclear and needs further research. In this study, we present the results from a cohort of 21 premature neonates. Results indicate that TE values computed using the nonlinear approach are able to discriminate between neonates with brain abnormalities and healthy neonates, indicating a less functional NVC in neonates with brain abnormalities.


Asunto(s)
Encéfalo , Acoplamiento Neurovascular , Espectroscopía Infrarroja Corta , Adulto , Encéfalo/fisiopatología , Encefalopatías/diagnóstico , Encefalopatías/fisiopatología , Electroencefalografía , Entropía , Humanos , Recién Nacido , Acoplamiento Neurovascular/fisiología
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