CYP2C9 polymorphisms in epilepsy: influence on phenytoin treatment.

Phenytoin (PHT) is an antiepileptic drug widely used in the treatment of focal epilepsy and status epilepticus, and effective in controlling focal seizures with and without tonic-clonic generalization and status epilepticus. The metabolization of PHT is carried out by two oxidative cytochrome P450 enzymes CYP2C9 and CYP2C19; 90% of this metabolization is done by CYP2C9 and the remaining 10% by CYP2C19. Genetic polymorphism of CYP2C9 may reduce the metabolism of PHT by 25-50% in patients with variants *2 and *3 compared to those with wild-type variant *1.

Guidelines for the assessment and acceptance of potential brain-dead organ donors.

Organ transplantation is the only alternative for many patients with terminal diseases. The increasing disproportion between the high demand for organ transplants and the low rate of transplants actually performed is worrisome. Some of the causes of this disproportion are errors in the identification of potential organ donors and in the determination of contraindications by the attending staff.

Improving first responders' psychogenic nonepileptic seizures diagnosis accuracy: Development and validation of a 6-item bedside diagnostic tool.

Objective: Epileptic seizures (ES) are often seen as a medical emergency, and their immediate and accurate recognition are pivotal in providing acute care. However, a number of clinical situations may mimic ES, potentially leading to misdiagnosis at the emergency room and to inappropriate prescription of antiepileptic drugs (AED) in the acute and chronic settings. Psychogenic nonepileptic seizures (PNES) play a major role in this scenario and often delay the correct diagnosis and increase treatment morbidity and cost.

Reactivation of herpes simplex virus-1 following epilepsy surgery.

Purpose: The present study reports a case of encephalitis due to herpes simplex virus-1 (HSV-1), following surgical manipulation of the site of a primary infection.

Methods: Herpes simplex virus-1 infection was confirmed by CSF PCR and DNA sequencing.

Results: The patient was an 11-year-old girl who required temporal lobe surgery for epilepsy.

When should MELAS (Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like episodes) be the diagnosis?

Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like episodes (MELAS) is a rare mitochondrial disorder. Diagnostic criteria for MELAS include typical manifestations of the disease: stroke-like episodes, encephalopathy, evidence of mitochondrial dysfunction (laboratorial or histological) and known mitochondrial DNA gene mutations. Clinical features of MELAS are not necessarily uniform in the early stages of the disease, and correlations between clinical manifestations and physiopathology have not been fully elucidated.

When should MERRF (myoclonus epilepsy associated with ragged-red fibers) be the diagnosis?

Myoclonic epilepsy associated with ragged red fibers (MERRF) is a rare mitochondrial disorder. Diagnostic criteria for MERRF include typical manifestations of the disease: myoclonus, generalized epilepsy, cerebellar ataxia and ragged red fibers (RRF) on muscle biopsy. Clinical features of MERRF are not necessarily uniform in the early stages of the disease, and correlations between clinical manifestations and physiopathology have not been fully elucidated.

Are children affected by epileptic neuropsychiatric comorbidities?

Childhood-onset epilepsy is associated with psychiatric and cognitive difficulties and with poor social outcomes in adulthood. Some antiepileptic drugs adversely affect behavior in susceptible children with easy-to-control or refractory epilepsies, contributing to a high risk of psychological and psychiatric disturbance. Studies had demonstrated that patients with benign rolandic epilepsy and absence epilepsy had more aggressive behavior, depression, and anxiety disorders than control children.

Brazilian guidelines for the application of transcranial ultrasound as a diagnostic test for the confirmation of brain death.

Neurosonological studies, specifically transcranial Doppler (TCD) and transcranial color-coded duplex (TCCD), have high level of specificity and sensitivity and they are used as complementary tests for the diagnosis of brain death (BD). A group of experts, from the Neurosonology Department of the Brazilian Academy of Neurology, created a task force to determine the criteria for the following aspects of diagnosing BD in Brazil: the reliability of TCD methodology; the reliability of TCCD methodology; neurosonology training and skills; the diagnosis of encephalic circulatory arrest; and exam documentation for BD. The results of this meeting are presented in the current paper.

Quality of life issues and occupational performance of persons with epilepsy.

Epilepsy causes restrictions in the performance of various daily activities. The aiming of this study was to investigate whether these restrictions affect the perceived quality of life. The assessments Quality of Life in Epilepsy-31 (QOLIE-31) and Canadian Occupational Performance Measure (COPM) were applied in a sample that consisted of a single group of 34 subjects with at least two years of uncontrolled seizures.

CYP2C9 polymorphism in patients with epilepsy: genotypic frequency analyzes and phenytoin adverse reactions correlation.

Objective: CYP2C9 is a major enzyme in human drug metabolism and the polymorphism observed in the corresponding gene may affect therapeutic outcome during treatment. The distribution of variant CYP2C9 alleles and prevalence of phenytoin adverse reactions were hereby investigated in a population of patients diagnosed with epilepsy.

Method: Allele-specific PCR analysis was carried out in order to determine frequencies of the two most common variant alleles, CYP2C9*2 and CYP2C9*3 in genomic DNA isolated from 100 epileptic patients.

MERRF: Clinical features, muscle biopsy and molecular genetics in Brazilian patients.

Myoclonic epilepsy with ragged red fibers (MERRF) is a mitochondrial disease that is characterized by myoclonic epilepsy with ragged red fibers (RRF) in muscle biopsies. The aim of this study was to analyze Brazilian patients with MERRF. Six patients with MERRF were studied and correlations between clinical findings, laboratory data, electrophysiology, histology and molecular features were examined.

[Endocrine and metabolic effects of antiepileptic drugs].

The antiepileptic drugs (AED) have been widely used for a great deal of people--in the treatment of epilepsy and other diseases--throughout the world. Continuous and prolonged use of AED may be associated with adverse effects in different systems, including a variety of endocrine and metabolic abnormalities. In this review, the relationship of AED with alterations in bone mineral metabolism, energy balance and body weight, gonadal function and thyroid metabolism was revised, as well as their clinical utility in the treatment of diabetic neuropathy.

Uncontrolled headache induced by oxcarbazepine.

Headache induced by acute exposure to a specific drug constitutes an idiosyncratic side effect. Metabolic imbalance appears as the leading aetiology, among several other hypotheses. Either primary headaches show a higher susceptibility to this idiosyncratic reaction or a drug-induced primary headache evolves in intensity and duration, becoming uncontrolled until the complete discontinuation of the drug in consideration.

McArdle disease with rhabdomyolysis induced by rosuvastatin: case report.

The rosuvastatin inducing rhabdomyolysis in McArdle disease (MD) has not been reported to date. A 35-years-old man had exercise intolerance, muscular fatigue and cramps during physical activity since infancy. He presented severe rhabdomyolysis episode with seizure and coma after use of rosuvastatin.

Analysis of frontal sharp transients in 32 neonatal polysomnography in healthy fullterm newborns.

Objective: To identify and quantify frontal sharp transients found in neonatal polysomnography of healthy full term newborns in each stage of the sleep-wake cycle within the first 48 hours of life.

Method: The EEG from healthy term 32 newborns, legal age of two days and with adequate monitoring during pregnancy. Frontal sharp transients (FST) were quantified, according to synchronous or asynchronous, in each stage of the sleep-wake cycle.

Bone density and bone turnover markers in patients with epilepsy on chronic antiepileptic drug therapy.

In this comparative, cross-sectional study, we evaluated 55 patients with epilepsy on chronic use of antiepileptic drugs (AED); [(38 females and 17 males, 35 +/- 6 years (25 to 47)] and compared to 24 healthy subjects (17 females/7 males). Laboratorial evaluation of bone and mineral metabolism including measurements of bone specific alkaline phosphatase (BALP) and carboxyterminal telopeptide of type I collagen (CTX-I) were performed. Bone mineral density (BMD) was measured by DXA.

Menkes' disease: case report.

Menkes disease is a rare neurodegenerative disorder due to an intracellular defect of a copper transport protein. We describe a 7 months male patient who presented with seizures, hypoactivity and absence of visual contact. The investigation disclosed pilli torti and thrycorrexis nodosa in the hair, low serum levels of both copper and ceruloplasmin, brain magnetic resonance study showed atrophy and white matter hypointensities on T1-weighted images, electroencephalogram reveals moderate background activity disorganization and epileptiform activity, and muscle biopsy with type 2 fiber atrophy.

Alterations in the gastrocnemius muscle of undernourished suckling rats.

Protein-energy undernutrition (PEU) during both the gestational and suckling periods causes a reduction in muscle fiber cross-section and a delay in fiber type differentiation. Such changes are not found when PEU occurs after the suckling period. To elucidate the consequences of PEU on muscle during the suckling period, we undernourished (UND) newborn rats by reducing their food intake, including a 6-hour fast every day, and doubling the number of pups suckled by the nursing rat.

[Fibrolipomatous hamartoma of the median nerve: case report].

Fibrolipomatous hamartoma is a rare benign neoplasm that in some cases is associated with macrodactylia. We describe a 31-year-old man who had a tissue enlargement in the wrist, second and third fingers of the left hand since infancy. At 23-years-old he began with continuous, progressive and high intensity pain that occurred more frequently at night, localized in the left hand.

Bone mineral density and serum levels of 25 OH vitamin D in chronic users of antiepileptic drugs.

The aim of this cross sectional study was to evaluate bone mineral density (BMD) and serum levels of 25-hydroxy vitamin D (25OHD) in a group of patients taking antiepileptic drugs (AED) for a seizure disorder. Between May-2001 and January-2003, we evaluated 58 patients (40 women/18 men), 34.4+/-6 years old living in Curitiba or in its metropolitan area, on antiepileptic therapy for 2 to 38 years (10 on monotherapy /48 on multiple drugs regime).

The Wada Test: contributions to standardization of the stimulus for language and memory assessment.

The Wada Test (WT) is part of the presurgical evaluation for refractory epilepsy. The WT is not standardized and the protocols differ in important ways, including stimulus type of material presented for memory testing, timing of presentations and methods of assessment. The aim of this study was to contribute to establish parameters for a WT to Brazilian population investigating the performance of 100 normal subjects, without medication.

Cerebellar hemorrhage as a complication of temporal lobectomy for refractory medial temporal epilepsy: report of three cases.

Cerebellar hemorrhage is listed among the potential complications following neurosurgical procedures. In this scenario it is usually reported as a rare condition. However, it seems that epilepsy surgery patients are somewhat more prone to this kind of complication, compared to other surgical groups.