RESUMO
The pathogenesis of antiepileptic drug (AED) resistance is multifactorial. However, most candidate gene association studies typically assess the effects of candidate genes independently of each other, which is partly because of the limitations of the parametric-statistical methods for detecting the gene-to-gene interactions. A total of 200 patients with drug-resistant epilepsy and 200 patients with drug-responsive epilepsy were genotyped for 3 representative the single nucleotide polymorphisms (SNPs) of the voltage-gated sodium channel genes (SCN1A, SCN1B, and SCN2A) by polymerase chain reaction and direct sequencing analysis. Besides the typical parametric statistical method, a new statistical method (multifactor dimensionality reduction [MDR]) was used to determine whether gene-to-gene interactions increase the risk of AED resistance. None of the individual genotypes or alleles tested in the present study showed a significant association with AED resistance, regardless of their theoretical functional value. With the MDR method, of three possible 2-locus genotype combinations, the combination of SCN2A-PM with SCN1B-PM was the best model for predicting susceptibility to AED resistance, with a p value of 0.0547. MDR, as an analysis paradigm for investigating multi-locus effects in complex disorders, may be a useful statistical method for determining the role of gene-to-gene interactions in the pathogenesis of AED resistance.
Assuntos
Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Alelos , Anticonvulsivantes/uso terapêutico , Estudos de Casos e Controles , Interpretação Estatística de Dados , Resistência a Medicamentos , Epilepsia/tratamento farmacológico , Predisposição Genética para Doença , Genótipo , Polimorfismo de Nucleotídeo Único , Canais de Sódio/genéticaRESUMO
BACKGROUND: Brain natriuretic peptide (BNP) is expected to play a role in hemodynamic modulation. Its biologically inactive fragment, the 76-amino-acid N-terminal proBNP (NT-pro-BNP), was known as one of the biologic markers of congestive heart failure and other clinical situations. But, there are controversies about clinical significance of NT-pro-BNP in ischemic stroke. This study was performed to find the clinical significance of NT- pro-BNP in early stage of acute ischemic stroke. METHODS: NT-pro-BNP levels were measured in 610 consecutive patients who admitted to the department of neurology at Chonnam National University Hospital. 205 patients were excluded due to incomplete follow-up period (more than 2 weeks), systemic infection, and etc. 286 ischemic stroke patients and 119 patients as control subjects were enrolled. NT-pro-BNP levels between stroke group and control were analyzed. When the patients in stroke group had more than 300 pg/mL of NT-pro-BNP, they were regarded as high group and the others were low group. National Institute of Health Stroke Scale (NIHSS) was checked at admission and 2 weeks later. Relationship between changes of NIHSS and the NT-pro-BNP level was also investigated. RESULTS: The NT-pro-BNP levels were significantly increased in ischemic stroke patients (830.87 pg/mL) compared with control group (378.27 pg/mL) (p=0.002). And the high levels of NT-pro-BNP in stroke patients were related to severity on admission and cardioembolic infarction. But there was no correlation between NT-pro-BNP and improvement of NIHSS. CONCLUSIONS: In this study, significant relationship between the severity of ischemic stroke and NT-pro-BNP was found. But NT-pro-BNP was not related to early prognosis of ischemic stroke.
Assuntos
Humanos , Biomarcadores , Seguimentos , Insuficiência Cardíaca , Hemodinâmica , Infarto , Peptídeo Natriurético Encefálico , Neurologia , Prognóstico , Acidente Vascular CerebralRESUMO
Pseudohypoparathyroidism (PHP) is a disorder characterized by clinical and laboratorial findings of hypoparathyroidism with high plasma parathyroid hormone levels due to resistance by target tissues. Neurologic complications of PHP are not uncommon but recurrent attacks of seizure during the postpartal period have yet to be reported. We report a case of subclinical pseudohypoparathyroidism with recurrent seizures in the postpartal period.
Assuntos
Hipoparatireoidismo , Hormônio Paratireóideo , Plasma , Período Pós-Parto , Pseudo-Hipoparatireoidismo , ConvulsõesRESUMO
A 63-year-old man was admitted with newly developed left hemiparesis. He had experienced left hemiparesis that had resulted from an earlier right thalamic hemorrhage. Diffusion-weighted images showed only high signal intensity lesion in the left internal capsule. Ipsilateral motor evoked potentials were obtained at the affected hand muscles when the unaffected motor cortex was stimulated. This suggests that cortical reorganization in the unaffected hemisphere after the first stroke may be involved in the occurrence of such symptom.
Assuntos
Humanos , Pessoa de Meia-Idade , Potencial Evocado Motor , Mãos , Hemorragia , Cápsula Interna , Córtex Motor , Músculos , Paresia , Acidente Vascular CerebralRESUMO
A 19-year-old woman developed painful abdominal distension, headache and mental deterioration. Several days later, she complained of paraparesis, urinary incontinence and diuresis. Intestinal pseudo-obstruction was detected by a laparoscopic examination. Brain MRI showed encephalitis with a high signal intensity of the corpus callosum on diffusion-weighted images. In serum and CSF, the varicella-zoster virus (VZV) IgM antibody was positive. After treatment with steroids and acyclovir, her symptoms improved. We report a patient with intestinal pseudo-obstruction, encephalitis and meningoradiculitis caused by VZV without skin lesions.
Assuntos
Feminino , Humanos , Adulto Jovem , Aciclovir , Encéfalo , Corpo Caloso , Diurese , Encefalite , Cefaleia , Herpesvirus Humano 3 , Imunoglobulina M , Pseudo-Obstrução Intestinal , Imageamento por Ressonância Magnética , Paraparesia , Pele , Esteroides , Incontinência UrináriaRESUMO
BACKGROUND: Parkinson's disease is a progressive, common neuro-degenerative disorder of the extrapyramidal system leading to specific motor symptoms, but there is no specific early diagnostic tool. This study was aimed to investigate the change of cerebral metabolites in patients with parkinson's disease by 1H magnetic resonance spectroscopy (MRS). METHODS: Eighteen patients with idiopathic unilateral symptomatic parkinson's disease underwent MRS study to compare metabolites of basal ganglia and thalamus, in ipsilateral and contralateral to the clinically affected side. RESULTS: In patients with unilateral symptomatic parkinson's disease, N-acetyl aspartate (NAA)/Creatine (Cr) ratio was significantly lower in contralateral side to the clinically affected side than in ipsilateral side (p=0.023). Other cerebral metabolites (Cho, mI, alpha-Glx, beta-Glx, lactate, lipid) were showed no significant difference in patients with parkinson's disease. CONCLUSIONS: The comparison and quantification of cerebral metabolites by using MRS may be helpful to diagnosis and investigation of parkinson's disease.