Non-ceruloplasmin copper and urinary copper in clinically stable Wilson disease: Alignment with recommended targets.

Background & Aims: Wilson disease (WD) is caused by accumulation of copper primarily in the liver and brain. During maintenance therapy of WD with D-penicillamine, current guidelines recommend on-treatment ranges of urinary copper excretion (UCE) of 200-500 μg/24 h and serum non-ceruloplasmin-bound copper (NCC) of 50-150 μg/L. We compared NCC (measured by two novel assays) and UCE from patients with clinically stable WD on D-penicillamine therapy with these recommendations.

Comparison of screening tests in the evaluation of cognitive status of patients with epilepsy.

Unlabelled: Epilepsy, a chronic neurological condition which is associated with neurobiological and psychosocial changes, affects 0.5 to 1% of the world's population, presenting in most cases a deficit in reasoning, memory and attention.

Objective: To contribute to the implementation of screening strategies for cognitive decline and memory deficits in patients with epilepsy.

Presence of generalized periodic discharges and hospital mortality.

Background: Generalized periodic discharges (GPDs) are rare patterns that can be found in long-term electroencephalographic monitoring in critical patients. These patterns have been correlated with non-seizure crisis and non-convulsive status epilepticus, associated with poor prognosis.

Objective: To compare the outcome between patients who developed GPDs and patients with other abnormalities in long-term electroencephalographic monitoring.

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.

The role of CYP2C9 polymorphisms in phenytoin-related cerebellar atrophy.

Purpose: Phenytoin is known to be able to induce cerebellar atrophy in patients with epilepsy. It is also known that a CYP2C9 mutation (*2 or *3) reduces phenytoin metabolism by 25-50% and can increase the risk of phenytoin-related side effects. We examined the influence of CYP2C9 polymorphisms on total cerebellar volume and cerebellar gray and white matter volumes in patients with epilepsy taking phenytoin.

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.

Analysis of 621 death certificates issued from 1998 to 2007 in Curitiba, Brazil, mentioning epilepsy, epileptic seizures and/or status epilepticus.

Purpose: This study aims to study death records mentioning epilepsy, epileptic seizures and/or status epilepticus, in order to survey the population demographics and associated medical conditions, making it possible to outline the patient's profile.

Methods: A qualitative analysis was performed on the data gathered from death certificates from the Curitiba county records ranging from 1998 to 2007 bracket, in which epilepsy, seizure and/or status epilepticus were mentioned as the basic, intermediate, immediate or associated cause of death.

Results: Epilepsy was mentioned on 621 death cases in this 10-year-period.

General practice physician knowledge about headache: evaluation of the municipal continual medical education program.

Objective: Headache is a common condition not always managed satisfactorily by primary care providers (PCPs). In an effort to improve headache care, the Curitiba City Hall in consortia with Hospital de Clínicas da Universidade Federal do Paraná - Brazil developed an educational program directed to the PCPs. The goal of the project was to evaluate, to update and to train the PCP on headache knowledge and care.

Right and left mesial temporal lobe seizures in one patient: bona fide semiological, interictal, ictal, and MRI evidence.

We present the case of a 36-year-old patient with bilateral independent manual automatisms associated with seizures coming independently from the left and right temporal lobes, as documented by surface EEG ictal recordings. An MRI showed evidence of bilateral mesial temporal sclerosis, more prominent on the right side. We speculate whether clinical semiology (along with the ictal EEG and imaging findings) discourages the pursuit of invasive monitoring, leading to more aggressive medical management in this particular case.

Pontine and extrapontine osmotic myelinolysis after the syndrome of inappropriate secretion of antidiuretic hormone (SIADH) associated with fluoxetine: case report.

Osmotic demyelination syndrome (ODS) may be precipitated by aggressive correction of a hypo or hyper-osmolar states. We describe the case of a 53-year-old woman that was started on fluoxetine 20 mg/day for depression and nine days later was found to have fluoxetine-induced syndrome of inappropriate secretion of antidiuretic hormone. After hyponatremia correction the mental status of the patient gradually improved, but subsequently she had intermittent difficulty in speaking, naming objects, memory deficits and psychomotor slowness.

Trigeminal sensory neuropathy and facial contact dermatitis due to Anthurium sp.

Background: Trigeminal sensory neuropathy (TSN) describes a heterogeneous group of disorders manifesting as facial numbness.

Objective: We report the case of a patient who had TSN associated with contact dermatitis due to Anthurium sp.

Method/results: A 21-year-old female patient developed left hemifacial contact dermatitis after exposure to the anthurium plant.

Clinical, neurovascular and neuropathological features in Sneddon's syndrome.

Sneddon's syndrome (SS) is characterized by ischemic cerebrovascular episodes and livedo reticularis. It is more common in young women and can also be associated with valvulopathy, a history of spontaneous abortion, renal involvement and vascular dementia. We describe three cases of young women with this disease.

Severe hyponatremia and the syndrome of inappropriate secretion of antidiuretic hormone (SIADH) associated with fluoxetine: case report.

Hyponatremia is a significant complication of treatment with serotonin selective reuptake inhibitors (SSRI). We describe a case of a 53-year-old woman that was started on fluoxetine 20 mg/day for depression. Nine days later, the patient started with weakness, nausea, progressing to confusion, inappetence and vomit.

[Insulinoma presenting as seizure: case report].

Insulinoma is a rare disease presenting with episodic neuroglycopenic and/or adrenergic symptoms. We describe the case of a 36 year-old female that had been in treatment for complex partial seizures during 4 years without improvement. She presented many crises with marking hypoglycemia.