Down-regulation of heart HFABP and UCP2 gene expression in diet-induced (cafeteria) obese rats.

Long-term exposure to hypercaloric high fat diet induced marked tissue fatty acid accumulation and may influence cell function. Previous results in our laboratory showed that uncoupling proteins (UCPs) and fatty acid-binding protein (FABP) gene expression are changed in adipose tissue and skeletal muscle tissue in diet-induced (cafeteria) obese animals. The aim of this study was to examine heart FABP (HFABP) and UCP2 gene expressions in dietary obese rats. Rats fed on a high-fat diet for 65 days had significantly higher fat stores and body weight than control rats. Interestingly, we found that both HFABP and UCP2 mRNA levels were significantly reduced in cafeteria-obese rats when compared to control animals. Moreover, a statistically significant correlation was observed between the two gene expression levels. The down-regulation of heart HFABP and UCP2 parallels the lower lipid utilization which may account for an enhanced fat deposition. It is plausible that these two genes are regulated by the same family of transcription factors.

Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct.

Glutaryl-CoA dehydrogenase (GCDH) deficiency causes glutaric aciduria type I (GA I), an inborn error of metabolism that is characterized clinically by dystonia and dyskinesia and pathologically by neural degeneration of the caudate and putamen. Studies of metabolite excretion allowed us to categorize 43 GA I Spanish patients into two groups: group 1 (26 patients), those presenting with high excretion of both glutarate and 3-hydroxyglutarate, and group 2 (17 patients), those who might not be detected by routine urine organic acid analysis because glutarate might be normal and 3-hydroxyglutarate only slightly higher than controls. Single-strand conformation polymorphism (SSCP) screening and sequence analysis of the 11 exons and the corresponding intron boundaries of the GCDH gene allowed us to identify 13 novel and 10 previously described mutations. The most frequent mutations in group 1 were A293T and R402W with an allele frequency of 30% and 28%, respectively. These two mutations were also found in group 2, but always in heterozygosity, in particular in combination with mutations V400M or R227P. Interestingly, mutations V400M and R227P were only found in group 2, and at least one of these mutations was found in 11 of 15 unrelated alleles, accounting together for 53% of the mutant alleles in group 2. Therefore, it seems clear that two genetically and biochemically distinct groups of patients exist. The severity of the clinical phenotype seems to be closely linked to the development of encephalopathic crises rather than to residual enzyme activity or genotype. Comparison of GCDH protein with other acyl-CoA dehydrogenases (whose x-ray crystal structure has been determined) reveals that most of the mutations identified in GCDH protein seem to affect folding and tetramerization, as has been described for a number of mutations affecting mitochondrial beta-oxidation acyl-CoA dehydrogenases.

[Partial complex status epilepticus: diagnostic difficulties]. / Estado de mal parcial complejo: dificultades diagnósticas.

INTRODUCTION AND CLINICAL CASE: We present a case of complex partial non convulsive status epilepticus which we think it is very interesting because it caused a challenged diagnostic. The patient, a male of eleven years old had affective symptoms in episodes. They occurred lasted six to eight hours, once or twice a month. The seizures began after a stressfully psychology experience. Currently and after of some months of follow-up, the patient is free of symptoms and he receives a treatment with valproate acid and vigabatrin. CONCLUSION: We also discuss possible precipitating factors, differential diagnosis and prognosis.

Transient nonketotic hyperglycinaemia: ultrasound, CT and MRI: case report.

We report a case of transient nonketotic hyperglycinaemia in which radiography correlated closely with clinical and biochemical findings. Only 5 patients have been previously described with this transient from of nonketotic hyperglycinaemia. Among the radiographic findings, thinning of the corpus callosum is the most characteristic.

[State of bilateral opercular disorder and pseudobulbar paralysis of late onset in unilateral perisylvian dysplasia]. / Estado de mal biopercular y parálisis pseudobulbar de debut tardío en la displasia perisilviana unilateral.

INTRODUCTION AND CLINICAL CASE: We come up the case of a six and a half year old girl suffering from right unilateral perisylvian cortical dysplasia who present left spastic hemiparesia, mirror movements and language disorder. She made her epileptic debut at the age of four and a half with myoclonic absences which responded to valproate treatment. At the age of five she began with biopercular status epilepticus shown as pseudobulbar palsy as diffusion of discharges from the dysplasia localization to the contralateral one. These episodes look places with variable duration from one hour to one month and finished after medical treatment or spontaneously. At the present a pseudobulbar palsy persistence and a bilateralization in the symptoms is observed.

[Non-ketotic hyperglycinemia. Transient neonatal form]. / Hiperglicinemia no cetósica. Forma neonatal transitoria.

We report a patient with neonatal epilepsy, with no pattern of burst-suppression, secondary to the transient form of nonketotic hyperglycinemia. Biochemical normalization at two weeks of age was followed by a good clinical evolution and neurological normality at one year of age. The patient showed markedly retarded myelination and microcysts in the frontal white matter, both transitory and with subsequent neuroradiological normalization. Only five patients have been previously described with this clinical variant, there being suspicion of a glycine cleavage system deficiency due to neonatal enzymatic immaturity.

[Reversible neuropsychological deterioration associated with valproate]. / Deterioro neuropsicológico reversible asociado a valproato.

Valproate (VPA) is indicated for treatment of febrile convulsions (FC) and very infrequently is associated with impairment of cognitive functions. We present a 8 years old girl treated with VPA for FC who manifest a dramatic behavioral and intellectual disorder confirmed by neuropsychological tests. Three weeks after a reduction of VPA dosis we observed a spectacular clinical improvement. Then, medication was discontinued with normalization of the neuropsychological items, till now, more than one year later. At all time plasmatics levels of VPA were in range and we never observed direct toxicity by the drug. This is an exceptional picture, and for our knowledge never has been reported during treatment of FC. We think that is important to inform of drug-induced abnormalities like this for avoid unnecessary exams to search for neurodegenerative disorders.