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1.
Zhonghua Er Ke Za Zhi ; 57(11): 830-836, 2019 Nov 02.
Artigo em Chinês | MEDLINE | ID: mdl-31665836

RESUMO

Objective: To summarize the clinical and genetic features of ß-propeller protein-associated neurodegeneration (BPAN). Methods: The clinical data of 17 patients with BPAN with WDR45 gene variants were retrospectively collected at Children's Hospital of Fudan University, Peking University First Hospital, Capital Institute of Pediatrics, Shengjing Hospital of China Medical University and Shanghai Children's Hospital from June 2016 to December 2018, and their clinical manifestations, electroencephalogram, neuroimaging and genetics were analyzed. Results: Seventeen cases (13 females, 4 males), aged 1.1-8.8 years, were included. The median age of seizure onset was 14.5 months, from 3 months to 24 months of age, manifested with epileptic spasm in 6 cases and focal seizures in 5 cases. Eight patients had only one seizure type and 8 patients had two or more seizure types. Nine patients had complete remission of seizures. All 16 patients with seizures had developmental delay before the seizure onset, of whom 13 patients had moderate to severe seizures. The brain magnetic resonance imaging (MRI) was abnormal in 13 patients, including cerebral atrophy (10 cases) and thinning of the corpus callosum (9 cases). The brain magnetic susceptibility weighted imaging (SWI) in preschool stage showed prominent T2 hypointense signals in bilateral globus pallidus and brainstem ventral in two cases. Five seizure types (spasm, focal, absence, myodonic and generalized tonic clonic seizures)were found on ictal electroencephalogram(EEG) recordings. Compared to female patients(17(6-24) months of ege), male cases had earlier seizure onset (3, 4, 5, 18 months of age) . All patients had de novo variations in WDR45(6 nonsense, 4 frameshift, 3 missense and 4 splicing variations), with hemizygous variants in 3 males, mosaic variants in a male and heterozygous variants in 13 females, within which 5 variations had not been reported (c.977-1C>T,c.976+1G>C,c.10C>T,c.806del and c.110T>C). Conclusions: The patients with BPAN have profound developmental delay and are vulnerable to seizures. The male patients with BPAN tend to have more severer clinical phenotype than females. Early brain SWI could facilitate the timely diagnosis of this disease.


Assuntos
Proteínas de Transporte/genética , Epilepsia/genética , Doenças Neurodegenerativas/genética , China , Eletroencefalografia , Epilepsia/diagnóstico , Feminino , Humanos , Lactente , Masculino , Doenças Neurodegenerativas/diagnóstico por imagem , Estudos Retrospectivos , Convulsões
2.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(10): 1019-1021, 2019 Oct 10.
Artigo em Chinês | MEDLINE | ID: mdl-31598950

RESUMO

OBJECTIVE: To identify pathogenic mutation of TSC1 and TSC2 genes in a patient with long-time misdiagnosis of epilepsy. METHODS: Peripheral blood samples and clinical data of the patient and her 2 parents were collected. Potential mutation of TSC1 and TSC2 genes were detected by direct sequencing. RESULTS: The patient had frequent episodes of epilepsy in addition with Shagreen patches for 10 years. A frame-shifting mutation c.2509_2512delAACA was detected in exon 20 of the TSC1 gene. This same mutation was not found in her unaffected parents. CONCLUSION: The recurrent frame-shifting mutation c.2509_2512delAACA (p.Asn837ValfsX11) of the TSC1 gene probably underlies the disease in this patient.


Assuntos
Epilepsia/diagnóstico , Epilepsia/genética , Esclerose Tuberosa/diagnóstico , Esclerose Tuberosa/genética , Erros de Diagnóstico , Feminino , Mutação da Fase de Leitura , Humanos , Proteína 1 do Complexo Esclerose Tuberosa/genética , Proteína 2 do Complexo Esclerose Tuberosa/genética
3.
Medicina (B Aires) ; 79 Suppl 3: 20-24, 2019.
Artigo em Espanhol | MEDLINE | ID: mdl-31603838

RESUMO

Neurometabolic diseases that manifest seizures and epilepsy are a large group of inherited disorders. They can present at any age from the neonatal period to adolescence. The epileptic manifestations can be very varied and, in general, they are epilepsies refractory to antiepileptic drugs. Epileptic phenomenology does not contribute to the diagnosis. The inborn errors of metabolism that respond to the use of cofactors should be known. In acute decompensation, it is essential to provide nutritional, hydroelectrolytic and respiratory support. It is possible that in a few years we can detect the metabolomic profile of these diseases, thus knowing better the diagnosis non-invasively and offering greater therapeutic possibilities for their epilepsy and especially for the underlying disease. We must not forget the transitory metabolic disorders and the electrolyte imbalances within the causes of seizures, especially in the neonatal period, and must be identified and treated early to avoid major damages.


Assuntos
Epilepsia/etiologia , Doenças Metabólicas/complicações , Eletroencefalografia , Epilepsia/diagnóstico , Epilepsia/terapia , Humanos , Recém-Nascido , Convulsões/classificação , Convulsões/etiologia , Convulsões/terapia
4.
Ideggyogy Sz ; 72(7-8): 257-263, 2019 Jul 30.
Artigo em Inglês | MEDLINE | ID: mdl-31517458

RESUMO

Background and purpose: Nonconvulsive status epilepticus (NCSE) is a heterogeneous, severe neurological disorder of different etiologies. In this study, the outcomes of NCSE episodes was assessed in a large series of adult patients. Our objective was to evaluate relationship between Status Epilepticus Severity Score (STESS) and etiology and the role of etiological factors on predicting the outcomes. Methods: In this retrospective study, the medical records of 95 patients over 18 years of age who were diagnosed with NCSE between June 2011 and December 2015 were reviewed. Their treatment and follow-up for NCSE was performed at the Epilepsy Unit in Department of Neurology, Antalya Research and Training Hospital. Etiological factors thought to be responsible for NCSE episodes as well as the prognostic data were retrieved. The etiological factors were classified into three groups as those with a known history of epilepsy (Group 1), primary neurological disorder (Group 2), or systemic/unknown etiology (Group 3). STESS was retrospectively applied to patients. Results: There were 95 participants, 59 of whom were female. Group 1, Group 2, and Group 3 consisted of 11 (7 female), 54 (33 female), and 30 (19 female) patients, respectively. Of the 18 total deaths, 12 occurred in Group 2, and 6 in Group 3. The negative predictive value for a STESS score of ≤ 2 was 93.88% (+LR 2.05 95% CI: 1.44-2.9 and -LR 0.3 95% CI 0.10-0.84 ) in the overall study group. While the corresponding values for Group 1 (patients with epilepsy), Group 2 (patients with primary neurological disorder), and group 3 (patients with systemic or unknown etiology) were 100%, 92.59% (+LR 2.06 95%CI: 1.32-3.21 and -LR 0.28 95% CI 0.08-1.02 ) 83.33% (+LR 1.14 95%CI: 0.59-2.9 and -LR 0.80 95% CI 0.23-2.73). Conclusion: This study included the one of the largest patients series ever reported in whom STESS, a clinical scoring system proposed for use in patients with status epilepticus, has been implemented. Although STESS appeared to be quite useful for predicting a favorable outcome in NCSE patients with epilepsy and primary neurological disorders, its predictive value in patients with systemic or unknown etiology was lower. Further prospective studies including larger NCSE samples are warranted.


Assuntos
Eletroencefalografia/estatística & dados numéricos , Estado Epiléptico/diagnóstico , Estado Epiléptico/etiologia , Adolescente , Adulto , Área Sob a Curva , Epilepsia/diagnóstico , Epilepsia/epidemiologia , Feminino , Humanos , Avaliação de Resultados (Cuidados de Saúde) , Prognóstico , Curva ROC , Estudos Retrospectivos , Índice de Gravidade de Doença , Estado Epiléptico/epidemiologia
5.
Nat Commun ; 10(1): 3096, 2019 07 30.
Artigo em Inglês | MEDLINE | ID: mdl-31363096

RESUMO

Natural communication often occurs in dialogue, differentially engaging auditory and sensorimotor brain regions during listening and speaking. However, previous attempts to decode speech directly from the human brain typically consider listening or speaking tasks in isolation. Here, human participants listened to questions and responded aloud with answers while we used high-density electrocorticography (ECoG) recordings to detect when they heard or said an utterance and to then decode the utterance's identity. Because certain answers were only plausible responses to certain questions, we could dynamically update the prior probabilities of each answer using the decoded question likelihoods as context. We decode produced and perceived utterances with accuracy rates as high as 61% and 76%, respectively (chance is 7% and 20%). Contextual integration of decoded question likelihoods significantly improves answer decoding. These results demonstrate real-time decoding of speech in an interactive, conversational setting, which has important implications for patients who are unable to communicate.


Assuntos
Mapeamento Encefálico/métodos , Córtex Cerebral/fisiologia , Fala/fisiologia , Interfaces Cérebro-Computador , Eletrocorticografia/instrumentação , Eletrocorticografia/métodos , Eletrodos Implantados , Epilepsia/diagnóstico , Epilepsia/fisiopatologia , Feminino , Humanos , Fatores de Tempo
6.
Artigo em Russo | MEDLINE | ID: mdl-31407693

RESUMO

The review considers the results of domestic and foreign studies of modern neurophysiological diagnosis of vestibular disorders in migraine and epilepsy. Currently, there is a large number of physiological and clinical methods to evaluate the functions of the peripheral and central parts of the vestibular sensory system. However, among the tests, the samples for the assessment of the physiological state of horizontal semicircular canals and associated stem canals predominate. In recent years, neurophysiological techniques that reflect the work of the structures of the nervous system, previously inaccessible to direct study, are being actively introduced. Modern effective neurophysiological methods of rehabilitation of patients with migraine-associated and other various vestibular disorders have been developed. Further study of neurophysiological approaches to the diagnosis of vestibular disorders in migraine and epilepsy will significantly expands the current understanding of neurophysiological mechanisms of brain functions.


Assuntos
Epilepsia , Transtornos de Enxaqueca , Doenças Vestibulares , Epilepsia/diagnóstico , Humanos , Transtornos de Enxaqueca/diagnóstico , Neurofisiologia/métodos , Canais Semicirculares , Doenças Vestibulares/diagnóstico
7.
Zhonghua Er Ke Za Zhi ; 57(7): 532-537, 2019 Jul 02.
Artigo em Chinês | MEDLINE | ID: mdl-31269553

RESUMO

Objective: To analyze the clinical phenotypes of epilepsies in children with GABRB2 variants. Methods: Data of 8 epileptic patients with heterozygous GABRB2 variants were retrospectively collected at the Department of Pediatrics, Peking University First Hospital from April 2016 to December 2018. The clinical, electroencephalographic, neuroimaging characteristics, therapeutic and follow-up were analyzed. Results: Eight patients (4 boys, 4 girls) with heterozygous GABRB2 gene pathogenic variants were enrolled. Eight patients had different GABRB2 variants, among whom 2 patients inherited the variants from either parent, and the other 6 patients had de novo variants. Seven variants were novel. Ages at seizure onset ranged from 1 day to 22 months after birth, and the median age was 6 months. The seizure was first observed within one month of age in 2 patients, 1-6 months in 2 patients, 7-12 months in 2 patients, and beyond 1 year of age in 2 patients. Multiple seizure types were observed, including focal seizures in 6 patients, generalized tonic clonic seizures (GTCS) in 4 patients, myoclonic seizures in 3 patients, and epileptic spasm in 2 patients. Developmental delay was present in 6 patients. In 8 patients, Dravet syndrome was diagnosed in 3 patients, febrile seizures plus and West syndrome in 2 patients, respectively, Ohtahara syndrome in 1 patient. Six patients had epilepsy with fever sensitivity, and status epilepticus developed in all these patients. The ages at the last follow-up ranged from 8 months to 11 years, and the follow-up data showed that 5 patients were seizure-free, and 2 patients still had seizures, and 1 patient died of recurrent status epilepticus complicated with fungal infection. Conclusions: Epilepsies associated with GABRB2 variants were characterized by an onset in infancy, and the clinical features were heterogenous in seizure types and severities. Most patients had multiple seizures with fever sensitivity, and status epilepticus was common. Their seizures were easily induced by fever or infection. Additionally, the majority of the patients had varying degrees of developmental delay.


Assuntos
Epilepsias Mioclônicas/genética , Epilepsia/genética , Receptores de GABA-A/genética , Idade de Início , Criança , Pré-Escolar , Eletroencefalografia , Epilepsias Mioclônicas/diagnóstico , Epilepsia/diagnóstico , Feminino , Humanos , Lactente , Masculino , Mutação , Estudos Retrospectivos , Convulsões , Espasmos Infantis/genética
8.
J Clin Neurophysiol ; 36(4): 257-263, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31274688

RESUMO

Electroencephalographers may misclassify benign variant EEG patterns as epileptiform discharges, resulting in delays in the diagnosis and appropriate treatment of other paroxysmal disorders, such as psychogenic nonepileptic seizures, anxiety/panic disorders, and near syncope. These benign variant patterns include wicket spikes, small sharp spikes, and rhythmic mid-temporal theta of drowsiness. Cautious interpretations of semi-rhythmic sharp transients, usually gradually rising from the EEG background in drowsiness, can help avoid misdiagnosing patients as having seizures. Viewing the EEG as confirmatory for a clear clinical diagnosis is also helpful-elderly patients with syncope, for example, often have microvascular disease and EEG wicket rhythms in drowsiness-a careful review of the clinical history and the paroxysmal EEG pattern usually help distinguish normal variant patterns from interictal sharp waves and spikes and avoid misdiagnosing epilepsy.


Assuntos
Encéfalo/fisiologia , Erros de Diagnóstico , Eletroencefalografia/métodos , Epilepsia/diagnóstico , Feminino , Humanos , Masculino , Convulsões/diagnóstico
9.
J Clin Neurophysiol ; 36(4): 264-274, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31274689

RESUMO

It is presumed that the EEG records only cerebral activity. However, frequently it can include other electrical activities, referred to as noise or artifact, which are not of cerebral origin. In the last few decades, evolution in digital technology has greatly improved the ability to record and display interpretable EEG. With the widespread availability of prolonged EEG recording, new artifacts have been described. The addition of concomitant video with audio during recordings has allowed in most instances to determine the source of certain artifacts. One of the challenges of interpreting EEGs consists of identifying artifacts correctly. Some of the EEG artifacts are so distinctive in appearance that the experienced reader can readily identify them. It is not uncommon for normal EEGs to be overinterpreted, especially by inexperienced readers. Failing to identify artifacts correctly can lead to "over reading" a study and doing so can result in misdiagnosis of epilepsy. This in turn can result in inappropriate treatments that ultimately can have serious clinical implications. This review will provide a description of the most commonly encountered artifacts that mimic spike or sharp waves, also referred to as interictal epileptiform discharges. In addition, we will describe troubleshooting approaches to eliminate these artifacts whenever possible. Artifacts that mimic ictal discharges will be reviewed in a different section.


Assuntos
Artefatos , Eletroencefalografia/métodos , Erros de Diagnóstico , Epilepsia/diagnóstico , Humanos
10.
J Clin Neurophysiol ; 36(4): 275-288, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31274690

RESUMO

Although the EEG is designed to record cerebral activity, it also frequently records activity from extracerebral sources, leading to artifact. Differentiating rhythmical artifact from true electrographic ictal activity remains a substantial challenge to even experienced electroencephalographers because the sources of artifact able to mimic ictal activity on EEG have continued to increase with the advent of technology. Knowledge of the characteristics of the polarity and physiologic electrical fields of the brain, as opposed to those generated by the eyes, heart, and muscles, allows the electroencephalographer to intuitively recognize noncerebrally generated waveforms. In this review, we provide practical guidelines for the EEG interpreter to correctly identify physiologic and nonphysiologic artifacts capable of mimicking electrographic seizures. In addition, we further elucidate the common pitfalls in artifact interpretation and the costly impact of epilepsy misdiagnosis due to artifact.


Assuntos
Artefatos , Encéfalo/fisiologia , Eletroencefalografia/métodos , Epilepsia/diagnóstico , Erros de Diagnóstico , Humanos
11.
J Clin Neurophysiol ; 36(4): 289-293, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31274691

RESUMO

Misinterpretations of the EEG can result in erroneous diagnosis of epilepsy, causing considerable family anxiety, over protectiveness of children, and delays in normal development and developmental exploration. The burden of a chronic disease can result in expensive and unnecessary medical treatment. The misdiagnosis of epilepsy has been well documented in adults, but misdiagnosis in normal children can have a long-lasting impact on their health. Furthermore, the EEG has a wider range of morphology and hence a greater opportunity for the missed diagnosis of epilepsy. Lack of familiarity of normal sleep patterns and age-related changes from the premature neonate to the young child make children particularly susceptible to misdiagnosis of epilepsy.


Assuntos
Eletroencefalografia/métodos , Epilepsia/diagnóstico , Pediatria , Adolescente , Adulto , Criança , Pré-Escolar , Erros de Diagnóstico , Feminino , Humanos , Recém-Nascido , Masculino
12.
J Clin Neurophysiol ; 36(4): 294-297, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31274692

RESUMO

Errors in diagnosis are relatively common in medicine and occur in all specialties. The consequences can be serious for both patients and physicians. Errors in neurology are often because of the overemphasis on 'tests' over the clinical picture. The diagnosis of epilepsy in general is a clinical one and is typically based on history. Epilepsy is more commonly overdiagnosed than underdiagnosed. An erroneous diagnosis of epilepsy is often the result of weak history and an 'abnormal' EEG. Twenty-five to 30% of patients previously diagnosed with epilepsy who did not respond to initial antiepileptic drug treatment do not have epilepsy. Most patients misdiagnosed with epilepsy turn out to have either psychogenic nonepileptic attacks or syncope. Reasons for reading a normal EEG as an abnormal one include over-reading normal variants or simple fluctuations of background rhythms. Reversing the diagnosis of epilepsy is challenging and requires reviewing the 'abnormal' EEG, which can be difficult. The lack of mandatory training in neurology residency programs is one of the main reasons for normal EEGs being over-read as abnormal. Tests (including EEG) should not be overemphasized over clinical judgment. The diagnosis of epilepsy can be challenging, and some seizure types may be underdiagnosed. Frontal lobe hypermotor seizures may be misdiagnosed as psychogenic events. Focal unaware cognitive seizures in elderly maybe be blamed on dementia, and ictal or interictal psychosis in frontal and temporal lobe epilepsies may be mistaken for a primary psychiatric disorder.


Assuntos
Erros de Diagnóstico , Eletroencefalografia/métodos , Epilepsia/diagnóstico , Feminino , Humanos , Masculino , Convulsões/diagnóstico
14.
J Headache Pain ; 20(1): 64, 2019 May 30.
Artigo em Inglês | MEDLINE | ID: mdl-31146673

RESUMO

BACKGROUND: Migraine aura (MA) is a common and disabling neurological condition, characterized by transient visual, and less frequently sensory and dysphasic aura disturbances. MA is associated with an increased risk of cardiovascular disorders and is often clinically difficult to distinguish from other serious neurological disorders such as transient ischemic attacks and epilepsy. Optimal clinical classification of MA symptoms is important for more accurate diagnosis and improved understanding of the pathophysiology of MA through clinical studies. MAIN BODY: A systematic review of previous prospective and retrospective systematic recordings of visual aura symptoms (VASs) was performed to provide an overview of the different types of visual phenomena occurring during MA and their respective frequencies in patients. We found 11 retrospective studies and three prospective studies systematically describing VASs. The number of different types of VASs reported by patients in the studies ranged from two to 23. The most common were flashes of bright light, "foggy" vision, zigzag lines, scotoma, small bright dots and 'like looking through heat waves or water'. CONCLUSIONS: We created a comprehensive list of VAS types reported by migraine patients based on all currently available data from clinical studies, which can be used for testing and validation in future studies. We propose that, based on this work, an official list of VAS types should be developed, preferably within the context of the International Classification of Headache Disorders of the International Headache Society.


Assuntos
Enxaqueca com Aura/diagnóstico , Enxaqueca com Aura/fisiopatologia , Visão Ocular/fisiologia , Adulto , Epilepsia/diagnóstico , Epilepsia/epidemiologia , Epilepsia/fisiopatologia , Feminino , Alucinações/diagnóstico , Alucinações/epidemiologia , Alucinações/fisiopatologia , Humanos , Ataque Isquêmico Transitório/diagnóstico , Ataque Isquêmico Transitório/epidemiologia , Ataque Isquêmico Transitório/fisiopatologia , Masculino , Enxaqueca com Aura/epidemiologia , Estudos Prospectivos , Estudos Retrospectivos
15.
Dtsch Med Wochenschr ; 144(12): 835-841, 2019 06.
Artigo em Alemão | MEDLINE | ID: mdl-31212327

RESUMO

Transient loss of consciousness (TLOC) is a frequent cause of referral to an emergency room. In view of the impact on treatment and the patients' daily life activities (e. g. profession, driving license), an accurate and timely diagnosis is of uttermost importance. This article provides key features and suggests a practical step-by-step approach of how to differentiate syncope, epileptic and psychogenic non-epileptic seizures as the commonest causes of nontraumatic TLOC.


Assuntos
Epilepsia , Convulsões , Síncope , Diagnóstico Diferencial , Epilepsia/classificação , Epilepsia/diagnóstico , Humanos , Convulsões/classificação , Convulsões/diagnóstico , Síncope/classificação , Síncope/diagnóstico
16.
Nat Commun ; 10(1): 2255, 2019 05 21.
Artigo em Inglês | MEDLINE | ID: mdl-31113952

RESUMO

Theoretical models of episodic memory have proposed that retrieval depends on interactions between the hippocampus and neocortex, where hippocampal reinstatement of item-context associations drives neocortical reinstatement of item information. Here, we simultaneously recorded intracranial EEG from hippocampus and lateral temporal cortex (LTC) of epilepsy patients who performed a virtual reality spatial navigation task. We extracted stimulus-specific representations of both item and item-context associations from the time-frequency patterns of activity in hippocampus and LTC. Our results revealed a double dissociation of representational reinstatement across time and space: an early reinstatement of item-context associations in hippocampus preceded a later reinstatement of item information in LTC. Importantly, reinstatement levels in hippocampus and LTC were correlated across trials, and the quality of LTC reinstatement was predicted by the magnitude of phase synchronization between hippocampus and LTC. These findings confirm that episodic memory retrieval in humans relies on coordinated representational interactions within a hippocampal-neocortical network.


Assuntos
Hipocampo/fisiologia , Memória Episódica , Rememoração Mental/fisiologia , Lobo Temporal/fisiologia , Adulto , Mapeamento Encefálico/métodos , Eletrocorticografia , Epilepsia/diagnóstico , Epilepsia/fisiopatologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Rede Nervosa/fisiologia , Adulto Jovem
17.
PLoS Med ; 16(5): e1002802, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-31083654

RESUMO

BACKGROUND: Seizures are the main cause of maternal death in women with epilepsy, but there are no tools for predicting seizures in pregnancy. We set out to develop and validate a prognostic model, using information collected during the antenatal booking visit, to predict seizure risk at any time in pregnancy and until 6 weeks postpartum in women with epilepsy on antiepileptic drugs. METHODS AND FINDINGS: We used datasets of a prospective cohort study (EMPiRE) of 527 pregnant women with epilepsy on medication recruited from 50 hospitals in the UK (4 November 2011-17 August 2014). The model development cohort comprised 399 women whose antiepileptic drug doses were adjusted based on clinical features only; the validation cohort comprised 128 women whose drug dose adjustments were informed by serum drug levels. The outcome was epileptic (non-eclamptic) seizure captured using diary records. We fitted the model using LASSO (least absolute shrinkage and selection operator) regression, and reported the performance using C-statistic (scale 0-1, values > 0.5 show discrimination) and calibration slope (scale 0-1, values near 1 show accuracy) with 95% confidence intervals (CIs). We determined the net benefit (a weighted sum of true positive and false positive classifications) of using the model, with various probability thresholds, to aid clinicians in making individualised decisions regarding, for example, referral to tertiary care, frequency and intensity of monitoring, and changes in antiepileptic medication. Seizures occurred in 183 women (46%, 183/399) in the model development cohort and in 57 women (45%, 57/128) in the validation cohort. The model included age at first seizure, baseline seizure classification, history of mental health disorder or learning difficulty, occurrence of tonic-clonic and non-tonic-clonic seizures in the 3 months before pregnancy, previous admission to hospital for seizures during pregnancy, and baseline dose of lamotrigine and levetiracetam. The C-statistic was 0.79 (95% CI 0.75, 0.84). On external validation, the model showed good performance (C-statistic 0.76, 95% CI 0.66, 0.85; calibration slope 0.93, 95% CI 0.44, 1.41) but with imprecise estimates. The EMPiRE model showed the highest net proportional benefit for predicted probability thresholds between 12% and 99%. Limitations of this study include the varied gestational ages of women at recruitment, retrospective patient recall of seizure history, potential variations in seizure classification, the small number of events in the validation cohort, and the clinical utility restricted to decision-making thresholds above 12%. The model findings may not be generalisable to low- and middle-income countries, or when information on all predictors is not available. CONCLUSIONS: The EMPiRE model showed good performance in predicting the risk of seizures in pregnant women with epilepsy who are prescribed antiepileptic drugs. Integration of the tool within the antenatal booking visit, deployed as a simple nomogram, can help to optimise care in women with epilepsy.


Assuntos
Anticonvulsivantes/uso terapêutico , Ondas Encefálicas/efeitos dos fármacos , Encéfalo/efeitos dos fármacos , Técnicas de Apoio para a Decisão , Epilepsia/tratamento farmacológico , Complicações na Gravidez/tratamento farmacológico , Adolescente , Adulto , Encéfalo/fisiopatologia , Criança , Epilepsia/diagnóstico , Epilepsia/fisiopatologia , Feminino , Humanos , Saúde Materna , Valor Preditivo dos Testes , Gravidez , Complicações na Gravidez/diagnóstico , Complicações na Gravidez/fisiopatologia , Prognóstico , Estudos Prospectivos , Reprodutibilidade dos Testes , Medição de Risco , Fatores de Risco , Adulto Jovem
18.
Rev. medica electron ; 41(2): 522-529, mar.-abr. 2019. graf
Artigo em Espanhol | LILACS, CUMED | ID: biblio-1004284

RESUMO

RESUMEN El síndrome de Blue Rubber Bled Nevus se caracteriza por múltiples malformaciones cutáneas, asociadas con malformaciones menores en órganos internos, (comúnmente afectan los órganos del sistema digestivo y el sistema nervioso central). A nivel mundial, se afirma que hay cerca de 1 a 2 millones de individuos afectados por este síndrome, y se cree que incide en 1 de cada 6000. En recién nacidos la incidencia se ha calculado en menos de 1 caso por 100 000 persona/año. Se presentó un caso de una paciente femenina de 8 años de edad, con antecedentes de hemangiomas múltiples de color azul violáceo, distribuidos por toda la superficie corporal, de diferentes diámetros. Algunos protruyen y depresibles al tacto. Presentaba ptosis palpebral y movimientos torpes de los cuatro miembros, epilepsia y afectaciones del neurodesarrollo el cual corresponde con una edad cronológica de 11 meses. Mostraba una disminución importante de la visión. Presencia de pie valgo a predominio derecho. Apareció anemia leve por déficit de hierro, inmunoglobulina C3 y C4, la química sanguínea al límite de lo normal. La resonancia magnética nuclear mostró importantes signos de atrofia cortical, más acentuados en región temporal derecha. Son entidades de muy escasa presentación y en la provincia de Matanzas es el único caso con este diagnóstico, por lo que constituyó el motivo para la presentación del caso.


ABSTRACT The syndrome of Blue Rubber Bled Nevus is characterized by multiple skin malformations, associated to minor malformations in internal organs (it commonly affects the organs of the digestive system and the central nervous system). It is affirmed that around 1 to 2 millions of individuals are affected by this syndrome worldwide, and it is believed that it has incidence on 1 of each 6000 persons. In newborns the incidence has been calculated in less than 1 case per 100 000 persons/year. The authors presented the case of a female patient, aged 8 years, with antecedents of purplish-blue multiple hemangiomas of different diameters, distributed all over the surface if the body. Several of them are protruding and depressible to the touch. She presented eyelid ptosis and slow movements of the four limbs, epilepsy, and neurodevelopment affectations corresponding to a chronological age of 11 months. She showed an important decrease of the vision. The study showed a slight iron-deficiency anemia, immunoglobulin C3 and C4, blood chemistry at the normal limit. The magnetic resonance imaging showed important signs of cortical atrophy, stronger in the right temporal region. These are entities of scarce presentation and it is the only case with this diagnosis found in the province of Matanzas; that motivated this case presentation.


Assuntos
Humanos , Feminino , Criança , Transtornos Psicomotores/diagnóstico , Síndrome , Nevo Azul/diagnóstico , Nevo Azul/microbiologia , Nevo Azul/diagnóstico por imagem , Hemangioma/diagnóstico , Hemangioma/microbiologia , Hemangioma/diagnóstico por imagem , Nevo Azul/reabilitação , Epilepsia/diagnóstico
19.
Ideggyogy Sz ; 72(3-4): 111-114, 2019 Mar 30.
Artigo em Inglês | MEDLINE | ID: mdl-30957465

RESUMO

Background and purpose: Syncope is defined as a brief transient loss of consciousness due to cerebral hypoperfusion. Although the diagnosis of syncope is based on a thorough history and examination, electroencaphalography (EEG) is also an important investigational tool in the differential diagnosis in this group of patients. In this study we aimed to identify the diagnostic value of EEG in patients with syncope. Methods: We retrospectively examined EEG recordings of 288 patients with the diagnosis of syncope referred to the Cankiri State Hospital EEG laboratory, from January 2014 to January 2016. The EEG findings were classified into 6 groups as normal, epileptiform discharges (spike and sharp waves), generalized background slowing, focal slowing, hemispherical asymmetries, and low amplitude EEG tracing. The EEGs were separated according to gender and age. Results: Total of 288 patients were included in this study, 148 were females (51.4%) and 140 (48.6%) were males. Among all the EEG reports, 203 (70.5%) were normal, 8 of them (2.8%) showed generalized background slowing and 7 (2.4%) demonstrated focal slow waves. Epileptiform discharges occured among 13 patients (4.5%). Hemispherical asymmetries were detected in 10 patients (3.5%) and low amplitude EEG tracing in 47 patients (16.3%). There was no significant difference between age groups in EEG findings (p=0.3). Also no significant difference was detected in EEG results by gender (p=0.2). Conclusion: Although the diagnosis of syncope, epilepsy and non-epileptic seizures is clinical diagnosis, EEG still remains additional method.


Assuntos
Eletroencefalografia , Epilepsia/diagnóstico , Síncope/diagnóstico , Epilepsia/fisiopatologia , Feminino , Humanos , Masculino , Estudos Retrospectivos , Convulsões , Síncope/fisiopatologia
20.
Rev Med Suisse ; 15(648): 853-856, 2019 Apr 24.
Artigo em Francês | MEDLINE | ID: mdl-31021569

RESUMO

First seizures are a diagnostic challenge in the emergency room. The differential diagnosis includes epileptic seizures, syncopes and psychogenic non-epileptic seizures. Importantly, amongst first epileptic seizures, acute symptomatic seizures should be distinguished from unprovoked seizures that define epilepsy. The early accurate diagnosis of first seizures is an important issue because of the therapeutic and prognostic implications at stake. In addition to gathering a detailed history, some ancillary tests may be warranted early on in patients' management. In this article, we present some definitions and describe clinical and work up features that might help accurately classify and appropriately manage such cases in the emergency room.


Assuntos
Epilepsia , Convulsões , Diagnóstico Diferencial , Eletroencefalografia , Serviço Hospitalar de Emergência , Epilepsia/complicações , Epilepsia/diagnóstico , Epilepsia/tratamento farmacológico , Humanos , Convulsões/tratamento farmacológico , Convulsões/etiologia , Síncope
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