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1.
Medicine (Baltimore) ; 98(51): e18075, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31860957

RESUMO

RATIONALE: Dyke-Davidoff-Masson syndrome (DDMS) is a rare syndrome commonly occurring in children and characterized by cerebral hemiatrophy, hypertrophy of the skull, epilepsy, and mental retardation. However, few have been reported in China, especially in teenagers. This case investigated its possible cause and explored a relative effective solution. PATIENT CONCERNS: A 24-year-old female came to department having experienced recurrent seizures for 12 years. DIAGNOSIS: DDMS was diagnosed from its manifestations, biochemistry indexes, and imaging (computed tomography angiography, magnetic resonance venography, and so on). INTERVENTIONS: Several drugs are used to treat the disease, including valproate, carbamazepine, topiramate, and ginkgo biloba extract. OUTCOMES: Under the medicine treatment of magnesium valproate with carbamazepine, the patient experienced partial seizures approximately once per month that lasted 30 to 60 seconds each without any complications observed during a follow-up period of 24 months. CONCLUSION: The imaging and clinical features of DDMS in this teenager were similar to those in classic infantile-onset cases. A potential cause of the disease could be brain trauma, which impaired the middle cerebral artery and reduced cerebral blood supply, leading to epilepsy and hemiatrophy. LESSONS: It was concluded early diagnosis and pharmacotherapy are the keys to preventing intellectual decline in DDMS patients. Moreover, the combination of magnesium valproate and carbamazepine could significantly reduce the frequency and duration of seizures, despite not eliminating them completely.


Assuntos
Encefalopatias/diagnóstico por imagem , Deficiência Intelectual/diagnóstico , Imagem por Ressonância Magnética/métodos , Convulsões/diagnóstico , Convulsões/tratamento farmacológico , Encefalopatias/tratamento farmacológico , Carbamazepina/uso terapêutico , China , Doença Crônica , Feminino , Humanos , Deficiência Intelectual/tratamento farmacológico , Prognóstico , Recidiva , Medição de Risco , Índice de Gravidade de Doença , Síndrome , Tomografia Computadorizada por Raios X/métodos , Ácido Valproico , Adulto Jovem
2.
Medicina (B Aires) ; 79 Suppl 3: 6-9, 2019.
Artigo em Espanhol | MEDLINE | ID: mdl-31603835

RESUMO

The objective was to describe the frequency, mode of presentation and characteristics of epilepsy in children with congenital hemiparesis (CH). It is a etrospective, descriptive and multicenter study, based on the collection of data from the clinical records of patients from 0 to 19 years with CH secondary to perinatal infarction in different centers of the community of Catalonia. A total of 310 children were included (55% males and 45% females), from a total of 13 centers in Catalonia. Average age of onset of the crises was 2 ± 1 year. Epilepsy was present in 29.5% (n = 76), among which the most frequent vascular subtype was arterial presumed perinatal ischemic stroke (51.3%), followed by neonatal arterial ischemic stroke (18.4%), periventricular venous infarction (15.8%), neonatal hemorrhagic stroke (10.5%) and neonatal cerebral sinovenous thrombosis (3.9%). Semiology of the most frequent seizures was motor focal in 82%, followed by focal motor with secondary bilateralization in 23%, focal discognitive in 13.5%, generalized by 2% and spasms in 6.5%. The 67.3% were controlled with monotherapy and the drugs used were valproate, levetiracetam or carbamazepine. The antecedent of electrical status during sleep was identified in 3 patients, all associated with extensive lesions that included the thalamus. Of the total number of children with epilepsy, 35% began with neonatal seizu res in the first 3 days of life. The 30% of children with perinatal stroke and CH present a risk of epilepsy during childhood. Children with ischemic strock have the highest risk, so they will require a follow-up aimed at detecting prematurely the epilepsy and start a treatment.


Assuntos
Epilepsia/etiologia , Paresia/congênito , Paresia/etiologia , Acidente Vascular Cerebral/complicações , Adolescente , Anticonvulsivantes/uso terapêutico , Carbamazepina/uso terapêutico , Criança , Pré-Escolar , Epilepsia/tratamento farmacológico , Feminino , Humanos , Lactente , Recém-Nascido , Levetiracetam/uso terapêutico , Masculino , Estudos Retrospectivos , Fatores de Risco , Convulsões/etiologia , Espanha , Ácido Valproico/uso terapêutico , Adulto Jovem
3.
S D Med ; 72(9): 393-395, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31581374

RESUMO

Glossopharyngeal neuralgia is an underreported condition characterized by discomfort elicited through involvement of the ninthcranial nerve. Triggering phenomena and associated vagal nerve involvement creates the potential for an unexpected clinical presentation. In this case report, we present a 60-year-old male who described a shock-like pain throughout his neck and jaw. The patient initially responded to carbamazepine but the clinical course was complicated by cardiac pauses with syncope requiring pacemaker implantation. Failure of pharmacologic treatment led to surgical intervention.


Assuntos
Analgésicos não Entorpecentes , Carbamazepina , Doenças do Nervo Glossofaríngeo , Neuralgia , Analgésicos não Entorpecentes/uso terapêutico , Carbamazepina/uso terapêutico , Nervo Glossofaríngeo , Doenças do Nervo Glossofaríngeo/diagnóstico , Doenças do Nervo Glossofaríngeo/tratamento farmacológico , Humanos , Masculino , Pessoa de Meia-Idade , Marca-Passo Artificial , Síncope
4.
Epileptic Disord ; 21(4): 319-329, 2019 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-31403463

RESUMO

Clinical trials provide the evidence needed for rational use of medicines. The evolution of drug trials follows largely the evolution of regulatory requirements. This article summarizes methodological changes in antiepileptic drug trials and associated advances in knowledge starting from 1938, the year phenytoin was introduced and also the year when evidence of safety was made a requirement for the marketing of medicines in the United States. The first period (1938-1969) saw the introduction of over 20 new drugs for epilepsy, many of which did not withstand the test of time. Only few well controlled trials were completed in that period and trial designs were generally suboptimal due to methodological constraints. The intermediate period (1970-1988) did not see the introduction of any major new medication, but important therapeutic advances took place due to improved understanding of the properties of available drugs. The value of therapeutic drug monitoring and monotherapy were recognized during the intermediate period, which also saw major improvements in trial methodology. The last period (1989-2019) was dominated by the introduction of second-generation drugs, and further evolution in the design of monotherapy and adjunctive-therapy trials. The expansion of the pharmacological armamentarium has improved opportunities for tailoring drug treatment to the characteristics of the individual. However, there is still inadequate evidence from controlled trials to guide treatment selection for most epilepsy syndromes, particularly in children. Second-generation drugs had a very modest impact on drug resistance, and a change in paradigm for drug discovery and development is needed, focusing on treatments that target the causes and mechanisms of epilepsy rather than its symptoms. Testing potential disease modifying agents will require innovative trial designs and novel endpoints, and will hopefully lead to introduction of safer and more effective therapies.


Assuntos
Anticonvulsivantes/uso terapêutico , Carbamazepina/uso terapêutico , Monitoramento de Medicamentos , Epilepsia/tratamento farmacológico , Anticonvulsivantes/história , Monitoramento de Medicamentos/história , Monitoramento de Medicamentos/métodos , Epilepsia Generalizada/tratamento farmacológico , Síndromes Epilépticas/tratamento farmacológico , História do Século XX , História do Século XXI , Humanos
5.
Epileptic Disord ; 21(4): 330-336, 2019 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-31403464

RESUMO

Adverse drug reactions are a leading cause of treatment failure with antiepileptic drugs. Adverse drug reactions are also a major source of morbidity and mortality, and a substantial burden on the use and costs of health care. Recent pharmacogenetic studies have shown that some adverse drug reactions are associated with genetic variants, which has changed how we select antiepileptic drugs for individual patients. This article, beginning with a case of an adverse drug reaction induced by carbamazepine, will answer four key questions about pharmacogenetics of adverse drug reactions: (1) What types of adverse drug reactions can be caused by antiepileptic drugs? (2) What is pharmacogenetics? (3) How does pharmacogenetics play a role in the adverse drug reactions of antiepileptic drugs? and (4) How do we apply pharmacogenetic testing in clinical practice? Our goal is to increase awareness of the contributions of genetic variation to adverse drug reactions of antiepileptic drugs.


Assuntos
Anticonvulsivantes/efeitos adversos , Anticonvulsivantes/uso terapêutico , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos/genética , Farmacogenética , Carbamazepina/efeitos adversos , Carbamazepina/uso terapêutico , Humanos , Alfabetização , Organização Mundial da Saúde
6.
Horm Metab Res ; 51(8): 511-521, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31408897

RESUMO

We conducted this meta-analysis to evaluate effects of second-generation anti-epileptic drugs (AEDs; levetiracetam, lamotrigine) compared to first-generation AEDs (valproic acid, carbamazepine) on bone metabolism in epilepsy patients. PubMed, Web of Science, Clinical trials.gov, Wanfang, and China national knowledge infrastructure databases were searched. Ten trials were included. Results showed: (1) The overall SMD for changes of serum calcium, phosphorus, ALP, and PTH levels from baseline of LEV versus first-generation AEDs were 1.00 (95% CI=0.23-1.77, Z=2.56, p=0.01), 0.98 (95% CI=- 0.05 to 2.01, Z=1.86, p=0.06), - 1.17 (95% CI=- 2.08 to - 0.25, Z=2.50, p=0.01), 0.07 (95% CI=- 0.14 to 0.27, Z=0.63, p=0.53), respectively. (2) The overall SMD for changes of serum calcium, phosphorus, ALP, and PTH levels from baseline of LTG versus first-generation AEDs were -0.16 (95% CI=- 0.47 to 0.16, Z=0.99, p=0.32), -0.05 (95% CI=- 0.55 to 0.44, Z=0.22, p=0.83), 0.10 (95% CI=- 0.53 to 0.73, Z=0.31, p=0.75), -0.05 (95% CI=- 0.52 to 0.42, Z=0.22, p=0.83), respectively. Overall, our results indicate that compared to first-generation AEDs, LEV has less adverse effects on blood bone metabolism markers in epilepsy patients, while LTG does not. However, due to small number of included studies, our results warrant additional research.


Assuntos
Anticonvulsivantes/uso terapêutico , Osso e Ossos/metabolismo , Carbamazepina/uso terapêutico , Epilepsia/tratamento farmacológico , Lamotrigina/uso terapêutico , Levetiracetam/uso terapêutico , Ácido Valproico/uso terapêutico , Osso e Ossos/efeitos dos fármacos , Osso e Ossos/patologia , Ensaios Clínicos como Assunto , Humanos , Prognóstico
7.
Cochrane Database Syst Rev ; 7: CD001911, 2019 07 18.
Artigo em Inglês | MEDLINE | ID: mdl-31318037

RESUMO

BACKGROUND: This is an update of a Cochrane Review first published in 2002 and last updated in 2017. This review is one in a series of Cochrane Reviews investigating pair-wise monotherapy comparisons.Epilepsy is a common neurological condition in which abnormal electrical discharges from the brain cause recurrent unprovoked seizures. It is believed that with effective drug treatment, up to 70% of individuals with active epilepsy have the potential to become seizure-free and go into long-term remission shortly after starting drug therapy with a single antiepileptic drug in monotherapy.Worldwide, carbamazepine and phenytoin are commonly-used broad spectrum antiepileptic drugs, suitable for most epileptic seizure types. Carbamazepine is a current first-line treatment for focal onset seizures in the USA and Europe. Phenytoin is no longer considered a first-line treatment, due to concerns over adverse events associated with its use, but the drug is still commonly used in low- to middle-income countries because of its low cost. No consistent differences in efficacy have been found between carbamazepine and phenytoin in individual trials; however, the confidence intervals generated by these trials are wide, and therefore, synthesising the data of the individual trials may show differences in efficacy. OBJECTIVES: To review the time to treatment failure, remission and first seizure with carbamazepine compared with phenytoin when used as monotherapy in people with focal onset seizures (simple or complex focal and secondarily generalised), or generalised onset tonic-clonic seizures (with or without other generalised seizure types). SEARCH METHODS: For the latest update, we searched the following databases on 13 August 2018: the Cochrane Register of Studies (CRS Web), which includes the Cochrane Epilepsy's Specialised Register and CENTRAL; MEDLINE; the US National Institutes of Health Ongoing Trials Register (ClinicalTrials.gov); and the World Health Organization International Clinical Trials Registry Platform (ICTRP). We handsearched relevant journals and contacted pharmaceutical companies, original trial investigators, and experts in the field. SELECTION CRITERIA: Randomised controlled trials comparing monotherapy with either carbamazepine or phenytoin in children or adults with focal onset seizures or generalised onset (tonic-clonic) seizures. DATA COLLECTION AND ANALYSIS: This was an individual participant data (IPD) review. Our primary outcome was time to treatment failure. Our secondary outcomes were time to first seizure post-randomisation, time to six-month remission, time to 12-month remission, and incidence of adverse events. We used Cox proportional hazards regression models to obtain trial-specific estimates of hazard ratios (HRs), with 95% confidence intervals (CIs), using the generic inverse variance method to obtain the overall pooled HR and 95% CI. MAIN RESULTS: IPD were available for 595 participants out of 1102 eligible individuals, from four out of 11 trials (i.e. 54% of the potential data). For remission outcomes, a HR greater than 1 indicates an advantage for phenytoin; and for first seizure and withdrawal outcomes, a HR greater than 1 indicates an advantage for carbamazepine. Most participants included in analysis (78%) were classified as experiencing focal onset seizures at baseline and only 22% were classified as experiencing generalised onset seizures; the results of this review are therefore mainly applicable to individuals with focal onset seizures.Results for the primary outcome of the review were: time to treatment failure for any reason related to treatment (pooled HR adjusted for seizure type for 546 participants: 0.94, 95% CI 0.70 to 1.26, moderate-certainty evidence); time to treatment failure due to lack of efficacy (pooled HR adjusted for seizure type for 546 participants: 0.99, 95% CI 0.69 to 1.41, moderate-certainty evidence); both showing no clear difference between the drugs and time to treatment failure due to adverse events (pooled HR adjusted for seizure type for 546 participants: 1.27, 95% CI 0.87 to 1.86, moderate-certainty evidence), showing that treatment failure due to adverse events may occur earlier on carbamazepine than phenytoin, but we cannot rule out a slight advantage to carbamazepine or no difference between the drugs.For our secondary outcomes (pooled HRs adjusted for seizure type), we did not find any clear differences between carbamazepine and phenytoin: time to first seizure post-randomisation (582 participants): 1.15, 95% CI 0.94 to 1.40, moderate-certainty evidence); time to 12-month remission (551 participants): 1.00, 95% CI 0.79 to 1.26, moderate-certainty evidence); and time to six-month remission (551 participants): 0.90, 95% CI 0.73 to 1.12, moderate-certainty evidence).For all outcomes, results for individuals with focal onset seizures were similar to overall results (moderate-certainty evidence), and results for the small subgroup of individuals with generalised onset seizures were imprecise, so we cannot rule out an advantage to either drug, or no difference between drugs (low-certainty evidence). There was also evidence that misclassification of seizure type may have confounded the results of this review, particularly for the outcome 'time to treatment failure'. Heterogeneity was present in analysis of 'time to first seizure' for individuals with generalised onset seizures, which could not be explained by subgroup analysis or sensitivity analyses.Limited information was available about adverse events in the trials and we could not compare the rates of adverse events between carbamazepine and phenytoin. Some adverse events reported on both drugs were abdominal pain, nausea, and vomiting, drowsiness, motor and cognitive disturbances, dysmorphic side effects (such as rash). AUTHORS' CONCLUSIONS: Moderate-certainty evidence provided by this systematic review does not show any differences between carbamazepine and phenytoin in terms of effectiveness (retention) or efficacy (seizure recurrence and seizure remission) for individuals with focal onset or generalised onset seizures.However, some of the trials contributing to the analyses had methodological inadequacies and inconsistencies, which may have had an impact on the results of this review. We therefore do not suggest that results of this review alone should form the basis of a treatment choice for a person with newly-onset seizures. We did not find any evidence to support or refute current treatment policies. We implore that future trials be designed to the highest quality possible, with consideration of masking, choice of population, classification of seizure type, duration of follow-up, choice of outcomes and analysis, and presentation of results.


Assuntos
Anticonvulsivantes/uso terapêutico , Carbamazepina/uso terapêutico , Epilepsia/tratamento farmacológico , Fenitoína/uso terapêutico , Anticonvulsivantes/efeitos adversos , Carbamazepina/efeitos adversos , Criança , Humanos , Fenitoína/efeitos adversos , Ensaios Clínicos Controlados Aleatórios como Assunto , Indução de Remissão , Convulsões/prevenção & controle , Falha de Tratamento , Resultado do Tratamento
8.
BMC Neurol ; 19(1): 114, 2019 Jun 04.
Artigo em Inglês | MEDLINE | ID: mdl-31164100

RESUMO

BACKGROUND: Epigenetics underlying refractory epilepsy is poorly understood. DNA methylation may affect gene expression in epilepsy patients without affecting DNA sequences. Herein, we investigated the association between Carbamazepine-resistant (CBZ-resistant) epilepsy and EPHX1 methylation in a northern Han Chinese population, and conducted an analysis of clinical risk factors for CBZ-resistant epilepsy. METHODS: Seventy-five northern Han Chinese patients participated in this research. 25 cases were CBZ-resistant epilepsy, 25 cases were CBZ-sensitive epilepsy and the remaining 25 cases were controls. Using a CpG searcher was to make a prediction of CpG islands; bisulfite sequencing PCR (BSP) was applied to test the methylation of EPHX1. We then did statistical analysis between clinical parameters and EPHX1 methylation. RESULTS: There was no difference between CBZ-resistant patients, CBZ-sensitive patients and healthy controls in matched age and gender. However, a significant difference of methylation levels located in NC_000001.11 (225,806,929.....225807108) of the EPHX1 promoter was found in CBZ-resistant patients, which was much higher than CBZ-sensitive and controls. Additionally, there was a significant positive correlation between seizure frequency, disease course and EPHX1 methylation in CBZ-resistant group. CONCLUSION: Methylation levels in EPHX1 promoter associated with CBZ-resistant epilepsy significantly. EPHX1 methylation may be the potential marker for CBZ resistance prior to the CBZ therapy and potential target for treatments.


Assuntos
Anticonvulsivantes/uso terapêutico , Carbamazepina/uso terapêutico , Resistência a Medicamentos/genética , Epilepsia Resistente a Medicamentos/genética , Epóxido Hidrolases/genética , Adulto , Grupo com Ancestrais do Continente Asiático/genética , Metilação de DNA , Epilepsia Resistente a Medicamentos/tratamento farmacológico , Epilepsia/tratamento farmacológico , Epilepsia/genética , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Regiões Promotoras Genéticas , Adulto Jovem
10.
Int J Clin Pharm ; 41(4): 1056-1061, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31222537

RESUMO

Background Valproic acid is one of several antiepileptic medications requiring therapeutic drug monitoring due to its complex and wide pharmacokinetic interindividual variability. Objective The objective of this study was to determine the population pharmacokinetics of valproic acid in adult Saudi patients and to identify factors that explain its pharmacokinetic variability. Setting Tertiary referral teaching hospital, Riyadh, Saudi Arabia. Method A retrospective chart review was performed at King Saud University Medical City of patients who received oral valproic acid. The population pharmacokinetic models were developed using Monolix 4.4. After development of the base model, we investigated several covariates including age, sex, weight, total daily dose, and cotherapy with carbamazepine and phenytoin. Main outcome measures the pharmacokinetic parameters of valproic acid and the variables that contributing towards its inter-individual variability. Results The analysis included a total of 54 valproic acid plasma concentrations from 54 patients (42.5% male). The data were sufficiently described by a one-compartment model with linear absorption and elimination processes. Average parameter estimates for valproic acid apparent clearance (CL/F) and apparent volume of distribution (V/F) were 0.14 L/h and 37.7 L (fixed), respectively. The inter-individual variability (coefficients of variation) in CL/F was 12%. The most significant covariates for valproic acid CL/F were age, body weight, total daily dose, and cotherapy with carbamazepine and phenytoin. Conclusion This model showed significant inter-individual variability between subjects. Our findings showed that patient age, body weight, total daily dose, and cotherapy with carbamazepine and phenytoin are the most significant covariates of valproic acid clearance. Collectively, healthcare providers should take these factors in consideration for optimal valproic acid dosage regimen.


Assuntos
Taxa de Depuração Metabólica , Ácido Valproico/farmacocinética , Administração Oral , Adolescente , Adulto , Idoso , Anticonvulsivantes/administração & dosagem , Anticonvulsivantes/farmacocinética , Anticonvulsivantes/uso terapêutico , Carbamazepina/uso terapêutico , Interações de Medicamentos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Modelos Biológicos , Fenitoína/uso terapêutico , Estudos Retrospectivos , Arábia Saudita , Topiramato/uso terapêutico , Ácido Valproico/administração & dosagem , Ácido Valproico/sangue , Adulto Jovem
11.
Bioanalysis ; 11(9): 899-911, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-31084189

RESUMO

Aim: Two approaches based on molecularly imprinted polymers-stir bar sorptive extraction (MIP-SBSE) and -magnetic solid-phase extraction (MIP-MSPE) have been used for extraction of carbamazepine (CBZ) from serum samples. Methodology: In MSPE and SBSE, development was achieved by employing a polycaprolactam coating. The Cecil® chromatographic system equipped with a UV-Vis detector was used for analytical determination of CBZ. Results: The linearity of calibration curves was in the concentration ranges of 0.2-12 and 0.05-12 µg ml-1 for MIP-SBSE and MIP-MSPE, respectively. Conclusion: MIP-MSPE was selected in preference to MIP-SBSE since lower limits of detection were achievable using MIP-MSPE method. The CBZ-MIP-MSPE-HPLC-UV method was successfully applied to CBZ determination in real serum samples of patients receiving CBZ.


Assuntos
Caprolactama/análogos & derivados , Carbamazepina/isolamento & purificação , Polímeros/química , Extração em Fase Sólida/métodos , Adulto , Idoso , Caprolactama/química , Carbamazepina/sangue , Carbamazepina/química , Carbamazepina/uso terapêutico , Cromatografia Líquida de Alta Pressão , Feminino , Óxido Ferroso-Férrico/química , Humanos , Masculino , Pessoa de Meia-Idade , Impressão Molecular , Polímeros/síntese química , Dióxido de Silício/química , Adulto Jovem
15.
Brain Dev ; 41(8): 706-715, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-30952461

RESUMO

OBJECTIVE: EAST syndrome comprises of epilepsy, ataxia, sensorineural deafness, and tubulopathy. It is caused by a mutation in KCNJ10 gene. Less than thirty cases have been reported in the literature with emphasis on genetic mutation and renal tubulopathy. In this article, our goal is to present a comprehensive description of epilepsy and its management. A literature review is also presented to consolidate and compare our findings with the previously reported cases. METHODS: Retrospective chart review was done to collect patient data. Research clinic was organized to obtain missing data. Molecular genetic testing was done at the CGC Genetics Laboratory. Electroencephalogram (EEG) was done for all patients and interpreted by a pediatric epileptologist and brain MRI was reviewed by a pediatric neuroradiologist. Developmental assessment was done by a developmental pediatrician using Griffiths Mental Developmental Scale. RESULTS: In patients with EAST syndrome, seizure is the first symptom occurring around 3-4 months of age. Most common seizure type was generalized tonic clonic (GTC). Usually, the seizures were brief lasting <3 min but few patients also presented with status epilepticus especially when the medication was weaned. Carbamazepine (CBZ) was found to be effective in most cases. Lamotrigine (LTG), valproic acid (VPA), and topiramate (TPM) were also found to be helpful. Routine EEGs were usually normal or showed non-specific findings. In few patients, EEG showed background slowing. Brain MRI revealed hyperintensity in the dentate nuclei in some patients, and quantitative volumetric analysis studies showed volume loss in different regions of the brain especially the cerebellum. All our five patients have the same homozygous c.170C>T (p.Thr57Ile) missense mutation in KCNJ10 gene. CONCLUSION: This article provides the readers with an understanding of the natural history of epilepsy in this syndrome to help in early recognition, avoid unnecessary investigations, and provide the best treatment for seizures. It also helps the physicians to share the prognosis of this rare syndrome with the parents.


Assuntos
Epilepsia/genética , Perda Auditiva Neurossensorial/genética , Deficiência Intelectual/genética , Canais de Potássio Corretores do Fluxo de Internalização/genética , Convulsões/genética , Anticonvulsivantes/uso terapêutico , Encéfalo/efeitos dos fármacos , Encéfalo/metabolismo , Carbamazepina/uso terapêutico , Ataxia Cerebelar/tratamento farmacológico , Criança , Pré-Escolar , Epilepsia/tratamento farmacológico , Epilepsia/metabolismo , Feminino , Perda Auditiva Neurossensorial/complicações , Humanos , Lactente , Deficiência Intelectual/complicações , Masculino , Mutação/genética , Mutação de Sentido Incorreto/genética , Linhagem , Canais de Potássio Corretores do Fluxo de Internalização/metabolismo , Estudos Retrospectivos , Convulsões/complicações , Convulsões/tratamento farmacológico , Síndrome , Ácido Valproico/uso terapêutico
16.
Expert Opin Pharmacother ; 20(8): 909-915, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30908087

RESUMO

INTRODUCTION: About 70 million people worldwide are estimated to suffer from epilepsy. Despite a large variety of old and new antiepileptic drugs on the market, about 30% of people with epilepsy do not become seizure-free with medical treatment. This is a major individual and public health burden. Most of these difficult-to-treat patients are having focal seizures. Zonisamide is effective against focal seizures in adults and children and, thus, a therapeutic option for such patients. Its safety profile needs special attention. Areas covered: Herein, the authors discuss the pharmacology, clinical efficacy and the adverse effects of zonisamide. The article is derived from clinical trial data, long-term studies, meta-analyses, review articles, text books, webpages, and official license information. Expert opinion: Zonisamide has proven to be efficacious in focal epilepsy in children and adults, although it is not more effective than carbamazepine or other antiepileptic drugs. It is also effective in generalized epilepsy and in several other conditions of the CNS. Its safety profile may prevent it from becoming a first-line drug for focal epilepsy or any other indication.


Assuntos
Anticonvulsivantes/uso terapêutico , Epilepsias Parciais/tratamento farmacológico , Zonisamida/uso terapêutico , Adulto , Carbamazepina/uso terapêutico , Criança , Epilepsia Generalizada/tratamento farmacológico , Humanos , Convulsões/tratamento farmacológico , Resultado do Tratamento
17.
Eur J Epidemiol ; 34(7): 651-660, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-30868347

RESUMO

Recent studies have shown that certain pharmacological agents used by fathers before conception may increase the risk of adverse neonatal outcomes in offspring. However, little is known about the effect of paternal use of antiepileptic drugs (AEDs) on congenital anomalies in children. Based on Danish national registers, we conducted a cohort study of 733, 282 singletons born from 1997 to 2008, with follow-up throughout 2013. The children whose fathers used AEDs during the 3 months before conception were categorized as the exposed. Logistic regression model was used to examine association between paternal AEDs use before conception and the risk of congenital anomalies in offspring. Compared with unexposed children, the exposed had a 23% increased risk of congenital anomalies (odds ratios (OR) 1.23, 95% confidence interval [CI] 1.10-1.37) after adjusting for potential confounders. When extending the exposure window to 1 year before conception to the end of pregnancy, except for those using AEDs during 3 months before conception (the susceptible period of exposure), the increased risks were also observed in children whose fathers were former users (i.e., those using AEDs only from 1 year to 3 months before conception) (OR 1.29, 95%CI 1.03-1.61) and later users (i.e., those using AEDs only during pregnancy) (OR 1.35, 95%CI 1.12-1.65). This study suggested that the mildly increased risk of congenital anomalies in the offspring associated with paternal AEDs use before conception may be attributable to the underlying indications related to AEDs use.


Assuntos
Anticonvulsivantes/efeitos adversos , Epilepsia/tratamento farmacológico , Pai/psicologia , Exposição Paterna/efeitos adversos , Efeitos Tardios da Exposição Pré-Natal/induzido quimicamente , Adulto , Anticonvulsivantes/uso terapêutico , Carbamazepina/uso terapêutico , Criança , Pré-Escolar , Estudos de Coortes , Dinamarca/epidemiologia , Epilepsia/epidemiologia , Pai/estatística & dados numéricos , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Vigilância da População , Cuidado Pré-Concepcional , Gravidez , Efeitos Tardios da Exposição Pré-Natal/epidemiologia
18.
J Headache Pain ; 20(1): 20, 2019 Feb 19.
Artigo em Inglês | MEDLINE | ID: mdl-30782116

RESUMO

BACKGROUND: Trigeminal neuralgia is one of the most characteristic and difficult to treat neuropathic pain conditions in patients with multiple sclerosis. The present narrative review addresses the current evidence on diagnostic tests and treatment of trigeminal neuralgia secondary to multiple sclerosis. METHODS: We searched for relevant papers within PubMed, EMBASE and the Cochrane Database of Systematic Reviews, taking into account publications up to December 2018. RESULTS: Trigeminal neuralgia secondary to multiple sclerosis manifests with facial paroxysmal pain triggered by typical manoeuvres; neurophysiological investigations and MRI support the diagnosis, providing the definite evidence of trigeminal pathway damage. A dedicated MRI is required to identify pontine demyelinating plaques. In many patients with multiple sclerosis, neuroimaging and surgical evidence suggests that neurovascular compression might act in concert with the pontine plaque through a double-crush mechanism. Although no placebo-controlled trials have been conducted in these patients, according to expert opinion the first-line therapy for trigeminal neuralgia secondary to multiple sclerosis relies on sodium-channel blockers, i.e. carbamazepine and oxcarbazepine. The sedative and motor side effects of these drugs frequently warrant an early consideration for neurosurgery. Surgical procedures include Gasserian ganglion percutaneous techniques, gamma knife radiosurgery and microvascular decompression in the posterior fossa. CONCLUSIONS: The relatively poor tolerability of the centrally-acting drugs carbamazepine and oxcarbazepine highlights the need to develop new selective and better-tolerated sodium-channel blockers. Prospective studies based on more advanced neuroimaging techniques should focus on how trigeminal anatomical abnormalities may be able to predict the efficacy of microvascular decompression.


Assuntos
Dor Facial , Esclerose Múltipla/complicações , Neuralgia do Trigêmeo , Carbamazepina/uso terapêutico , Descompressão Cirúrgica/métodos , Dor Facial/etiologia , Dor Facial/terapia , Humanos , Imagem por Ressonância Magnética , Neuralgia/tratamento farmacológico , Neuroimagem/métodos , Oxcarbazepina , Estudos Prospectivos , Radiocirurgia/métodos , Bloqueadores dos Canais de Sódio/uso terapêutico , Gânglio Trigeminal/cirurgia , Neuralgia do Trigêmeo/diagnóstico , Neuralgia do Trigêmeo/etiologia , Neuralgia do Trigêmeo/terapia
19.
J Binocul Vis Ocul Motil ; 69(1): 13-17, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30806169

RESUMO

PURPOSE: We report the first case of congenital ocular neuromyotonia (ONM) and the results of strabismus surgery for this patient's co-existing cranial nerve (CN) III palsy. PATIENTS AND METHOD: The patient presented at 18 months with strabismus that had reportedly been present since the time of birth. On exam, she had persistent exotropia (RXT) and hypertropia (RHT) with episodes of esotropia in the right eye that could be evoked by sustained left gaze. A diagnosis of ONM with partial CN III palsy was made. T1-weighted, T2-weighted, and fluid-attenuated inversion recovery magnetic resonance imaging failed to reveal intracranial pathology. RESULTS: Gaze induced intermittent esotropia resolved with carbamazepine. Surgery was performed to improve the patient's RXT and RHT. Post-operatively, the patient's RXT had improved from 12 to 15 prism diopters (∆) at near and 20∆ at a distance to 10∆ RXT at near with no horizontal deviation at distance. Her deviation has remained stable for 13 years, as has her neurological exam and good state of health. CONCLUSION: This case demonstrates that ONM may present congenitally and adds to the body of knowledge regarding surgical outcomes on concurrent CN palsies in these patients.


Assuntos
Síndrome de Isaacs/congênito , Doenças do Nervo Oculomotor/congênito , Estrabismo/congênito , Carbamazepina/uso terapêutico , Movimentos Oculares , Feminino , Humanos , Lactente , Síndrome de Isaacs/diagnóstico , Síndrome de Isaacs/terapia , Músculos Oculomotores/inervação , Doenças do Nervo Oculomotor/diagnóstico , Doenças do Nervo Oculomotor/cirurgia , Procedimentos Cirúrgicos Oftalmológicos , Bloqueadores dos Canais de Sódio/uso terapêutico , Estrabismo/diagnóstico , Estrabismo/terapia
20.
Chin Med J (Engl) ; 132(3): 269-274, 2019 Feb 05.
Artigo em Inglês | MEDLINE | ID: mdl-30681492

RESUMO

BACKGROUND: Studies on the relationship between antiepileptic drug (AED) administration and clinical outcomes in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) remain scarce. Levetiracetam (LEV) is an AED that is neuroprotective in various neurologic disorders. This study aimed to determine the impact of LEV on the outcome of MELAS. METHODS: A retrospective, single-center study was performed based on a large cohort of patients with MELAS with a history of seizures (n = 102). Decisions on antiepileptic therapies were made empirically. Patients were followed up for 1 to 8 years (median, 4 years) and divided into 2 groups based on whether LEV was administered (LEV or non-LEV). The modified Rankin scale (mRS) scores and mortality risks were analyzed in all patients. RESULTS: LEV, carbamazepine, benzodiazepines, topiramate, oxcarbazepine, valproate, and lamotrigine were administered in 48, 37, 18, 13, 11, 9, and 9 patients, singly or in combination, respectively. The mean mRS score of the LEV group (n = 48) was lower than that of the non-LEV group (n = 54; mean ±â€Šstandard deviation, 2.79 ±â€Š1.47 vs. 3.83 ±â€Š1.93, P = 0.006) up to the end of the study. Nevertheless, there was no difference in the proportion of subjects without disability (mRS ranging 0-1) between the groups (P = 0.37). The multivariate regressions revealed that LEV treatment was associated with lower mRS scores (odds ratio 0.32, 95% confidence interval [CI] 0.15-0.68, P = 0.003) and mortality rates (hazard ratio 0.24, 95% CI 0.08-0.74, P = 0.013). There was a significant difference in the Kaplan-Meier survival curves between the groups (χ = 4.29, P = 0.04). CONCLUSIONS: The LEV administration is associated with lower mortality in patients with MELAS in this retrospective study. Further laboratory research and prospective cohort studies are needed to confirm whether LEV has neuroprotective effects on patients with mitochondrial diseases.


Assuntos
Acidose Láctica/tratamento farmacológico , Acidose Láctica/mortalidade , Anticonvulsivantes/uso terapêutico , Levetiracetam/uso terapêutico , Encefalomiopatias Mitocondriais/tratamento farmacológico , Encefalomiopatias Mitocondriais/mortalidade , Acidente Vascular Cerebral/tratamento farmacológico , Acidente Vascular Cerebral/mortalidade , Adolescente , Carbamazepina/uso terapêutico , Criança , Pré-Escolar , Feminino , Humanos , Lamotrigina/uso terapêutico , Levetiracetam/administração & dosagem , Masculino , Oxcarbazepina/uso terapêutico , Estudos Prospectivos , Estudos Retrospectivos , Topiramato/uso terapêutico , Ácido Valproico/uso terapêutico
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