Relação dose-dependente do uso crônico de fenitoína e atrofia cerebelar em pacientes com epilepsia

The chronic treatment with phenytoin or the acute intoxication by this drug may cause permanent cerebellar injury with atrophy of cerebellum vermis and hemispheres, which can be detected by neuroimaging studies. The aim of the present study was to investigate the correlation between the dosage and duration of treatment with phenytoin and the occurrence of cerebellar atrophy. Sixty-six patients were studied and had their tomographies analyzed for cerebellar atrophy. Of the 66 patients studied, 18 had moderate/severe atrophy, 15 had mild atrophy and 33 were considered to be normal. The patients with moderate/severe atrophy were those with higher exposure to phenytoin (longer duration of treatment and higher total dosage) showing statistically significant difference when compared to patients with mild atrophy or without atrophy (p=0.02). Further, the patients with moderate/severe atrophy had serum levels of phenytoin statistically higher than those of patients with mild atrophy or without atrophy (p = 0.008). There was no association between other antiepileptic drugs dosage or duration of treatment and degree of cerebellar atrophy. We also found that older patients had cerebellar atrophy more frequently, indicating that age or duration of the seizure disorder may also be important in the determination of cerebellar degeneration in these patients. We conclude that although there is a possibility that repeated seizures contribute to cerebellar damage, long term exposure to phenytoin, particularly in high doses and toxic serum levels, cause cerebellar atrophy.

Phenotypic variability in a family with x-linked adrenoleukodystrophy caused by the p.Trp132Ter mutation

X-linked adrenoleukodystrophy (X-ALD) is an inherited disease with clinical heterogeneity varying from presymptomatic individuals to rapidly progressive cerebral ALD forms. This disease is characterized by increased concentration of very long chain fatty acids (VLCFAs) in plasma and in adrenal, testicular and nervous tissues. Affected individuals can be classified in different clinical settings, according to phenotypic expression and age at onset of initial symptoms. Molecular defects in X-ALD individuals usually result from ABCD1 gene mutations. In the present report we describe clinical data and the ABCD1 gene study in two boys affected with the childhood cerebral form that presented with different symptomatic manifestations at diagnosis. In addition, their maternal grandfather had been diagnosed with Addison's disease indicating phenotypic variation for X-ALD within this family. The mutation p.Trp132Ter was identified in both male patients; additionally, three females, out of eleven family members, were found to be heterozygous after screening for this mutation. In the present report, the molecular analysis was especially important since one of the heterozygous females was in first stages of pregnancy. Therefore, depending on the fetus outcome, if male and p.Trp132Ter carrier, storage of the umbilical cord blood should be recommended as hematopoietic stem cell transplantation could be considered as an option for treatment in the future.

Fibrose congênita de reto inferior atípica com hipotonia muscular generalizada: relato de um caso

A case report of an atipical inferior rectus congenital fibrosis associated with a generalized muscular hypotonia is presented. It shows mild hipotropia with a normal visual acuity and binocularity in infraversion position contrasting with the severe hipotropia and ambliopy found. The surgical procedure took these facts into consideration, so we performed a small retrocess of the muscle with the objective to correct the head position without changes in the reading position. The postoperative results were satisfactory.

Polirradiculoneurite e malária: relato de um caso

Case report of a patient who three weeks after a Plasmodium falciparum malaria presented the Guillain-Barré syndrome. There was a severe type of polyradiculoneuritis with tetraplegia and involvement of several cranial nerves (VI, VII, IX, X) evolving to death. The Guillain-Barré syndrome has been considered a immune disorder with several eliciting antigenic stimuli. The case suggests that protozoan may be one these antigenic factors.

Período ovulatório e crises epilépticas

We prospectively follow up 80 mentally healthy women at menacme age, with chronic epilepsy and had had least one seizure in the month preceding the study. We selected 59 patients from whom we were able to observe at least three regular menstrual cycles with seizures. We defined regular, irregular cycle, perimenstrual and ovulation period. According to our concepts we have got 19, 30 and 6 patients with respectively severe, moderate and mild exacerbation of perimenstrual seizures. Using our definitions 6, 20 and 17 patients showed severe, moderate and mild accentuation of seizures during ovulation, while 15 patients showed no ovulatory accentuation. Our attention was drawn to the great number of perimenstrual and ovulatory exacerbation of seizures, according to our criteria. From 55 patients with perimenstrual accentuation of seizures 44 (74.54%) showed exacerbation during the ovulatory period. In our opinion, these data speak out in favor of the hormonal theory to explain these occurrences. We discuss these data based on the avaiable literature. We think the strogen peak is probably the main cause of the increased frequency of epileptic seizures during the ovulation period. New studies, documenting objectively the ovulation and seizures are mandatory to clarify the relationship of these aspects of the female endocrine reproductive physiology in epileptics.

Proposição e avaliação de um método baseado em projeção de luz para reconstrução e análise da superfície do tronco durante a respiração

Universidade Estadual de Campinas . Faculdade de Educação Física

Atletas paraolimpicas : figurações e sociedade contemporanea

Universidade Estadual de Campinas. Faculdade de Educação Física

O uso de softwares para estimulação da percepção do surdo frente aos parametros de velocidade do ritmo : proposta de utilização do Bpm Counter e do Vpm Counter no programa de atividade ritmicas adaptado as pessoas surdas

Universidade Estadual de Campinas . Faculdade de Educação Física

Da busca pela natureza aos ambientes artificiais : reflexões sobre a escalada esportiva

Universidade Estadual de Campinas . Faculdade de Educação Física