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2.
Arq Neuropsiquiatr ; 73(4): 289-92, 2015 Apr.
Article in English | MEDLINE | ID: mdl-25992517

ABSTRACT

UNLABELLED: Juvenile myoclonic epilepsy (JME) accounts for 26% of generalized idiopathic epileptic syndromes. The highest levels of thrombin activity are closely involved in the development of neurological diseases, including epilepsy. The prothrombin c.20210G>A (rs1799963) variation, which alters prothrombin mRNA stability, is associated with high plasma prothrombin levels. OBJECTIVE: The present study was designed to investigate whether the SNP rs1799963 is a risk factor for JME in the northeastern Brazilian population. RESULTS: The polymorphism was genotyped in 207 controls and 123 patients using polymerase chain reaction-restriction fragment length polymorphism method. No significant differences were observed in the genotype and allele frequencies of this polymorphism between cases and controls. CONCLUSION: These results present no evidence for an association of rs1799963 with JME. Further studies including other types of epilepsy are required to investigate the involvement of prothrombin gene in the genetic susceptibility to chronic seizure.


Subject(s)
Myoclonic Epilepsy, Juvenile/genetics , Polymorphism, Restriction Fragment Length , Prothrombin/genetics , Adolescent , Brazil/ethnology , Case-Control Studies , Female , Gene Frequency , Genetic Association Studies , Genetic Predisposition to Disease/ethnology , Genetic Testing , Humans , Linear Models , Male , Myoclonic Epilepsy, Juvenile/blood , Myoclonic Epilepsy, Juvenile/ethnology , Polymerase Chain Reaction , Prothrombin/analysis , Reference Values , Risk Factors
3.
Arq. neuropsiquiatr ; 73(4): 289-292, 04/2015. tab
Article in English | LILACS | ID: lil-745754

ABSTRACT

Juvenile myoclonic epilepsy (JME) accounts for 26% of generalized idiopathic epileptic syndromes. The highest levels of thrombin activity are closely involved in the development of neurological diseases, including epilepsy. The prothrombin c.20210G>A (rs1799963) variation, which alters prothrombin mRNA stability, is associated with high plasma prothrombin levels. Objective : The present study was designed to investigate whether the SNP rs1799963 is a risk factor for JME in the northeastern Brazilian population. Results : The polymorphism was genotyped in 207 controls and 123 patients using polymerase chain reaction-restriction fragment length polymorphism method. No significant differences were observed in the genotype and allele frequencies of this polymorphism between cases and controls. Conclusion : These results present no evidence for an association of rs1799963 with JME. Further studies including other types of epilepsy are required to investigate the involvement of prothrombin gene in the genetic susceptibility to chronic seizure. .


Epilepsia mioclônica juvenil (EMJ) representa 26% das síndromes epilépticas idiopáticas generalizadas. Níveis elevados de atividade da trombina estão intimamente envolvidos no desenvolvimento de distúrbios neurológicos, incluindo epilepsia. A variante c.20210G>A (rs1799963) do gene de protrombina, que altera a estabilidade do RNAm, está associada com altos níveis de protrombina no plasma. Objetivo: Investigar se o SNP rs1799963 é um fator de risco para EMJ em uma amostra da população do nordeste brasileiro. Resultados : O polimorfismo foi genotipado em 123 pacientes e 207 controles usando a reação de polimerase em cadeia com restrição de polimorfismo. Não observamos diferença significativa nas frequências alélicas e genotípicas deste polimorfismo, entre as populações de pacientes e controle. Conclusão : Estes resultados não demonstram evidências para uma associação do polimorfismo rs1799963 com EMJ. Estudos posteriores, incluindo outros tipos de epilepsia, são necessários para investigar o envolvimento do gene protrombina na susceptibilidade genética a crises crônicas. .


Subject(s)
Adolescent , Female , Humans , Male , Myoclonic Epilepsy, Juvenile/genetics , Polymorphism, Restriction Fragment Length , Prothrombin/genetics , Brazil/ethnology , Case-Control Studies , Gene Frequency , Genetic Association Studies , Genetic Testing , Genetic Predisposition to Disease/ethnology , Linear Models , Myoclonic Epilepsy, Juvenile/blood , Myoclonic Epilepsy, Juvenile/ethnology , Polymerase Chain Reaction , Prothrombin/analysis , Reference Values , Risk Factors
4.
Seizure ; 22(8): 622-6, 2013 Oct.
Article in English | MEDLINE | ID: mdl-23702023

ABSTRACT

PURPOSE: To describe headaches in patients with epilepsy and try to identify relations between epileptic seizures and headaches. METHODS: Cross-sectional study, with 304 patients from the epilepsy out-patient section of University Hospital of Federal University of Alagoas (Brazil) between February 2007 and February 2008. The presence of headaches and their relationships with the epileptic seizures were analyzed. RESULTS: Frequent seizures were associated with a greater tendency of occurrence of headaches (odds ratio=1.6 times, p=0.077). Headaches occurred in 66.1% of the cases. The highest occurrence was of migraine (32.9% of the patients), followed by tension-type headaches (9.2%). Two syndromes with a continuum epilepsy-migraine in the same seizure are worth mentioning: migralepsy in 6.6% and epilepgraine in 10.2% of the patients with epilepsy. CONCLUSIONS: A high prevalence of headaches in patients with epilepsy was observed, with emphasis on hybrid crises of epilepsy and migraine.


Subject(s)
Epilepsy/epidemiology , Headache Disorders/epidemiology , Headache/epidemiology , Seizures/epidemiology , Adolescent , Adult , Aged , Aged, 80 and over , Brazil/epidemiology , Child , Child, Preschool , Comorbidity , Cross-Sectional Studies , Female , Humans , Male , Middle Aged , Prevalence
5.
Neurol India ; 60(6): 585-8, 2012.
Article in English | MEDLINE | ID: mdl-23287319

ABSTRACT

BACKGROUND: Juvenile myoclonic epilepsy (JME) is an idiopathic generalized epilepsy syndrome with genetic basis and accounts for 10% of all forms of epilepsy. Despite the existence of rare mutations responsible for some familial forms inherited in a Mendelian pattern, the genetics of JME is complex and probably involves multiple genes. Because of widespread distribution in the central nervous system (CNS) and their ability to produce postsynaptic inhibition, GABA (A) receptor subunits (GABRs) encoding genes represent high ranking candidates for epilepsy susceptibility. AIM: This case/control study was designed to investigate whether the rs211037 of the GABRG2 gene is a risk factor for JME in the Brazilian population. MATERIALS AND METHODS: The polymorphism was genotyped in 98 patients and 130 controls using polymerase chain reaction-restriction fragment length polymorphism method. Descriptive and statistical analyses were performed using SNP stat software. RESULTS: Genotype proportions and allele frequencies for the rs211037 polymorphism of the GABARG2 gene did not differ significantly between the groups, even when the odds ratio was adjusted for clinical variables. CONCLUSION: These results present no evidence for an association of rs211037 with JME. Further studies are required to investigate the involvement of the GABRG2 gene in the genetic susceptibility to this epileptic syndrome.


Subject(s)
Genetic Predisposition to Disease/genetics , Myoclonic Epilepsy, Juvenile/genetics , Polymorphism, Genetic/genetics , Receptors, GABA-A/genetics , Adolescent , Adult , Brazil , Chi-Square Distribution , Child , Child, Preschool , Female , Genetic Association Studies , Genetic Testing , Genotype , Humans , Male , Young Adult
6.
J. epilepsy clin. neurophysiol ; 15(2): 65-69, jun. 2009. graf, tab
Article in Portuguese | LILACS | ID: lil-523312

ABSTRACT

INTRODUÇÃO: A Epilepsia Mioclônica Juvenil (EMJ) é uma epilepsia idiopática generalizada, que, apesar de descrita há mais de um século, é uma entidade clínica ainda subdiagnosticada. OBJETIVO: Apresentar o perfil clínico, epidemiológico e terapêutico de pacientes com EMJ, além de mensurar a qualidade de vida destes. METODOLOGIA: Foram avaliados dezenove pacientes com EMJ, acompanhados no Hospital Universitário da Universidade Federal de Alagoas, com o Protocolo de Consulta Clínica e o QOLIE-31 (Quality of life in epilepsy), versão brasileira. RESULTADOS: O estudo mostrou que dentre os 19 pacientes selecionados, 12 (63 por cento) eram do sexo feminino; a idade de início das crises epiléticas teve média de 12 anos (±3); a história familiar para epilepsia foi positiva 78,9 por cento dos entrevistados; todos apresentavam crises mioclônicas de predomínio matinal associadas a crises tônico-clônicas generalizadas; 14 pacientes (73,7 por cento) estavam em monoterapia, sendo 13 com o ácido valpróico. A "Pontuação Global" (Overall score) do QOLIE-31 variou de 26 a 98, com média de 62,1 (±18,4) e T-score (escore padronizado) corresponde a 47. CONCLUSÃO: A análise dos resultados auxilia sobremaneira na melhor caracterização deste grupo de pacientes, além de quantificar através de instrumento validado, pela primeira vez, a qualidade de vida destes, a qual não pode mais ser ignorada no seu manejo.


INTRODUCTION: The Juvenile Myoclonic Epilepsy (JME) is an idiopathic generalized epilepsy that, despite being descripted for more than a century, it is still a clinical entity often misdiagnosed. OBJECTIVE: Introduce the clinical, epidemiological and therapeutic profile of patients with JME, addition to measuring the quality of their life. METHODOLOGY: Nineteen patients carrying JME were evaluated. They had been examinated at the Federal University of Alagoas' Academic Hospital, with the Clinical Enquiry Protocol and the QOLIE-31 (Quality of life in epilepsy), Brasilian version. RESULTS: Among the 19 selected patients, 63 percent were female; the average age for the first seizure was twelve years (±3); the epilepsy familiar history were positive in 78,9 percent of the patients; all patients presented myoclonic seizures with matinal predominance associated to generalized tonic-clonic seizures; 14 patients (73,7 percent) were in monotherapy, 13 of these with sodium valproate. The "Overall score" of QOLIE-31 range from 26 to 98, with an average score of 62,1 (±18,4) and T-score (standardized score) corresponding 47. CONCLUSION: The analysis helps considerably in the best characterization of this group of patients and quantifies for the first time, through validated instrument, the quality of life of them, which can no longer be ignored in their management.


Subject(s)
Humans , Quality of Life , Myoclonic Epilepsy, Juvenile
8.
Revista Brasileira de Neurologia ; 1(29): 25-27, jan./fev. 1993.
Article | Index Psychology - journals | ID: psi-5879

ABSTRACT

Tres casos de hematoma extradural bilateral sao apresentados neste trabalho. Os autores fazem uma analise da patogenia destes hematomas, do tratamento cirurgico dos mesmos, dos subsidios fornecidos pela tomografia computarizada (TC), bem como realizam uma revisao da literatura recente.


Subject(s)
Hematoma, Epidural, Cranial , Craniotomy , Tomography, X-Ray Computed , Hematoma, Epidural, Cranial , Craniotomy , Tomography, X-Ray Computed
9.
Rev. bras. neurol ; 29(1): 25-7, 1993. ilus
Article in Portuguese | LILACS | ID: lil-129174

ABSTRACT

Três casos de hematoma extradural bilateral säo apresentados neste trabalho. Os autores fazem uma análise da patogenia destes hematomas, do tratamento cirúrgico dos mesmos, dos subsídios fornecidos pela tomografia computadorizada (TC), bem como realizam uma revisäo da literatura recente


Subject(s)
Humans , Male , Child , Adult , Craniotomy , Hematoma, Epidural, Cranial/surgery , Craniotomy , Hematoma, Epidural, Cranial/diagnosis , Tomography, X-Ray Computed
10.
Rev. bras. neurol ; 28(3): 79-84, maio-jun. 1992. ilus
Article in Portuguese | LILACS | ID: lil-123019

ABSTRACT

Este trabalho foi realizado no Hospital do Açúcar e Hospital do SESI, em Maceió. Estudamos aproximadamente 100 pacientes que chegaram aos nossos Serviços com manifestaçöes clínicas sugestivas de neuropatias periféricas, discopatias ou comprometimento do sistema nervoso autônomo, com vistas a estabelecer a etiologia das referidas alteraçöes. Identificamos neste grupo 18 pacientes com neuroesquistossomose, confirmados com análise do líquor cefalorraquiano (L.C.R.), exame parasitológico de fezes (E.P.F.) ou biópsia retal (B.R.). Encontramos, além dos quadros já descritos na literatura, casos com diagnóstico prévio de hérnia discal, hiperplasia prostática ou histeria. A evoluçäo clínica e sobretudo liquórica com o tratamento específico (praziquantel ou oxaminiquine) foi mais favorável do que os relatos prévios da literatura. Houve um caso com história pregressa de mielite transversa alguns anos antes, com remissäo total, porém os estudos de potenciais evocados afastaram a possibilidade de esclerose múltipla. Dentre os trabalhos já descritos o nosso se destaca pela alta incidência de esquistossomose como etiologia dos quadros acima descritos


Subject(s)
Humans , Male , Female , Child, Preschool , Child , Adolescent , Adult , Middle Aged , Neurologic Manifestations , Schistosomiasis/complications , Autonomic Nervous System Diseases/etiology , Peripheral Nerves/parasitology , Praziquantel/therapeutic use , Schistosomiasis mansoni/cerebrospinal fluid , Schistosomiasis mansoni/drug therapy
11.
J. bras. psiquiatr ; 40(1): 5-8, jan.-fev. 1991. ilus
Article in Portuguese | LILACS | ID: lil-113526

ABSTRACT

Os autores relatam o caso de um paciente com a síndrome de Klüver-Bucy determinada por traumatismo craniencefálico, levando à atrofia do hemisfério cerebral esquerdo. Controle parcial das manifestaçöes foi obtido com o emprego de haloperidol. Na discussäo a seguir, é enfatizada a necessidade do diagnóstico clínico das formas incompletas da apresentaçäo da síndrome no homem. Dada as irredutíveis diferenças entre os aspectos estruturais, simbólicos e comportamentais dos cérebros do Homo sapiens e do Macacus rhesus, procuramos chamar a atençäo para as peculiaridades clínicas do modelo humano


Subject(s)
Adult , Humans , Male , Brain Injuries/complications , Social Behavior Disorders/etiology , Temporal Lobe/physiopathology , Bulimia/etiology , Haloperidol/therapeutic use , Memory Disorders/etiology , Sexual Dysfunction, Physiological/etiology , Limbic System/physiopathology
12.
J. bras. psiquiatr ; 1(40): 5-8, jan./fev. 1991.
Article | Index Psychology - journals | ID: psi-6654

ABSTRACT

Os autores relatam o caso de um paciente com a sindrome Kluver-Bucy determinada por traumatismo craniencefalico, levando a atrofia do hemifesrico cerebral esquerdo. Controle parcial das manifestacoes foi obtido com o emprego de haloperidol. Na discussao a seguir, e enfatizada a necessidade do diagnostico clinico das formas incompletas da apresentacao da sindrome no homem. Dadas as irredutiveis diferencas entre os aspectos estruturais, simbolicos e comportamentais dos cerebro do Homo sapiens e do Macacus rhesus, procuramos chamar a atencao para as peculiaridades clinicas do modelo humano.


Subject(s)
Limbic System , Social Behavior Disorders , Temporal Lobe , Sexual Dysfunction, Physiological , Memory Disorders , Haloperidol , Bulimia , Limbic System , Social Behavior Disorders , Temporal Lobe , Sexual Dysfunction, Physiological , Memory Disorders , Haloperidol , Bulimia
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