Paroxysmal tonic upgaze of childhood and childhood absence epilepsy.

Paroxismal tonic upgaze of childhood (PTU) is a distinctive neuro-ophthalmological syndrome of unknown aetiology and pathogenesis that is characterized by episodes of sustained upward deviation of the eyes, often with incomplete downward saccades on attempted downgaze. Only few cases of PTU with co-existent epilepsy have been reported. We describe a case of female child affected by PTU who developed a childhood absence epilepsy (CAE) after 3 years from the beginning of disturbance. During hospitalization she presented repeated absence seizures; after the diagnosis of CAE, we started therapy with valproic acid (VPA). At the 6-month follow-up from the beginning of VPA therapy the child showed the disappearance of absence seizures with normalization of EEG, while no attenuation of PTU was observed. Our case suggests a possible association between PTU and epilepsy.

Nonalcoholic fatty liver disease during valproate therapy.

Valproic acid (VPA) is effective for the treatment of many types of epilepsy, but its use can be associated with an increase in body weight. We report a case of nonalcoholic fatty liver disease (NAFLD) arising in a child who developed obesity during VPA treatment. Laboratory data revealed hyperinsulinemia with insulin resistance. After the withdrawal of VPA therapy, our patient showed a significant weight loss, a decrease of body mass index, and normalization of metabolic and endocrine parameters; moreover, ultrasound measurements showed a complete normalization. The present case suggests that obesity, hyperinsulinemia, insulin resistance, and long-term treatment with VPA may be all associated with the development of NAFLD; this side effect is reversible after VPA withdrawal.

Extended-release formulations in epilepsy.

In the past years, the extended-release antiepileptic drug formulations have been developed and then approved for the treatment of many types of epilepsy. Among these extended-release formulations of antiepileptic drugs, the main drugs are valproic acid, carbamazepine, and phenytoin. This review analyzes the chemical and structural characteristics of the extended-release formulations of these 3 antiepileptic drugs, analyzing their bioequivalence and the studies about their clinical use. The results of these studies are encouraging and suggest a good tolerability and efficacy of these extended-release formulations, although larger studies are needed.

The treatment of juvenile myoclonic epilepsy.

Juvenile myoclonic epilepsy is a common type of epilepsy with onset occurring during adolescence. This review provides a collection of evidence relating to the treatment of this type of epilepsy. Historically, the large majority of patients become seizure-free when treated with valproate. Over recent years, there has been a marked improvement in the pharmacological armamentarium by the physicians. Currently, administration of new antiepileptic drugs, such as levetiracetam, lamotrigine and topiramate, seems to have beneficial effects in the patients with poor response to valproate.

Renin similar to the submaxillary gland form is expressed in mouse mesangial cells: subcellular localization and all generation under control and glucose-stimulated conditions.

It was analyzed the forms of renin produced by a mouse immortalized mesangial cell line (MIC) and their ability to generate angiotensin II (AII). The synthesis, localization and secretion of renin and AII by MIC were evaluated under conditions of normal (10 mM) or high (30 mM) glucose concentration. Two major bands of 35 kDa and 70 kDa were observed in SDS-PAGE. The amino-terminal sequencing revealed the presence of prorenin and renin in these bands with higher homology with the submaxillary gland form of renin. Renin and AII were detected in cell lysate and in culture medium, indicating that MIC synthesize and secrete these peptides. Renin was localized in the cytoplasm while AII was seen predominantly inside the nucleus. High glucose induced an increase in the synthesis and secretion of renin and AII. Results suggest that MIC produce AII and a renin form similar to the submandibular. Intracellular AII may be directed at the nucleus and/or be secreted, indicating that AII may directly influences gene expression in these cells. The mechanisms of synthesis and secretion of renin and AII are potentially modified by high glucose concentration, suggesting a possible role of AII produced by mesangial cells in diabetic nephropathy.