Biomedical subjects
Publications and source records attributed to J Salas-Puig.
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Explore the source record for details and available documents.
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BACKGROUND: The term heraldic seizures indicates epileptic seizures caused by cerebrovascular disease, believed to be triggered by silent ischemia and occurring before a stroke. This fact widens the spectrum of possible interrelations between epilepsy and cerebrovascular disease outside the well known context of post-stroke epilepsy. METHODS: This is a case report of a healthy 67-year-old male who had a new onset epileptic seizure prior to a lobar intracerebral hemorrhage (ICH). This man began to suffer myoclonic jerks in his left arm which progressed to a generalized tonic-clonic seizure. At the emergency area the physical and neurological examination were unremarkable and a CT scan was normal. The next day the patient developed left hemiparesis, hemianopsia and confusion and a new CT scan showed right parietal-occipital ICH. CONCLUSIONS: This case report exemplifies the concept of heraldic seizures, showing a patient who had a focal seizure preceding an intracerebral hemorrhage. Our etiologic diagnostic work led us to a diagnosis of probable amyloid angiopathy. We suggest that cerebral amyloid angiopathy (CAA) may be the underlying cause, since it may be the origin of both the late event (ICH) and the heralding seizures, resulting from concurrent ischemia.
In the decade of 1980 the International League Against Epilepsy (ILAE) developed a classification system of epileptic seizures and syndromes. These classifications were established progressively and are presently used in all the world. In the following years, video-EEG monitoring became widely available and provided direct information about seizure semiology and ictal EEG that had not been so well understood during the development of the ILAE classifications. This new information demonstrated certain limitations of the old classification of epileptic seizures. In addition, improvements in brain imaging techniques and research in genetics added further information on the pathophysiology of epilepsies and epileptic syndromes. In order to integrate these advances into the practical management of epilepsies, new classification proposals have been developed. This article reviews the clinical implications of these new classifications.
Charles Bonnet's syndrome is characterized by the existence of visual hallucinations without psychiatric manifestations or cognitive disorder. Most patients are elderly people with severe visual problems. The objective of this paper is to describe the cases of three patients with this syndrome. The first is an 87 year old woman with bilateral cataract who had visual hallucinations seeing women and faces. The second is another 87 year old woman with advanced myopia and visions of people, animals and objects. The third is a 52 year old woman with atypical pigmentary retinopathy who suffered visual hallucinations of objects and animals in color. The neuroimaging and neurophysiological studies were not contributory. Treatment with neuroleptics or antiepileptics was effective only in one case. We conclude that it is important to know the syndrome and to differentiate it from psychiatric semiology. Deafferentation of the visual cortex could be the decisive factor in the occurrence of visual hallucinations.
Vogt-Koyanagi-Harada (VKH) syndrome or uveomeningitic syndrome is a disease affecting several organs: eye (bilateral uveitis, exudative retinal detachments), ear (tinnitus, dysacousia), skin and hair (vitiligo, alopecia, poliosis) and the nervous system (meningism, headache, pleocytosis in cerebrospinal fluid). The etiology remains unknown but it is probably a cell-mediated autoimmune disorder in individuals genetically susceptible to antigenic components of melanocytes. We report a 25 year old patient with VKH syndrome treated with intravenous steroid therapy and cycles of intravenous immunoglobulin with good clinical response. We concluded that treatment of the VKH syndrome should be early but definitely aggressive with high doses of systemic corticosteroids and intravenous immunoglobulin, assessing the maintenance of the latter by cycles.
INTRODUCTION: The relation between epilepsy and sleep has been known for some time. Seizures are often not observed by the examiner and it is necessary to make prolonged recordings during sleep, both slow or no REM sleep and paradoxical or REM sleep. Objective. To show the way in which a video recording may be made of a patient s seizures, together with an electroencephalogram recorded on a suitable disk and both sets of data be synchronised and studied as often as necessary. PATIENTS AND METHODS: We describe some of the epileptic seizures, recorded by this technique, during sleep. At the same time we show other paroxystic non epileptic episodes occurring during sleep which may be needed to be ruled out of the differential diagnosis. CONCLUSIONS: We show that as a general rule the basic activity of paroxystic disorders seen on an electroencephalogram occurs during slow sleep phases and particularly during their early stages. These studies are especially relevant in children and in neonates a prolonged recording is essential
Sodium valproate (VPA) is considered the first choice drug in juvenile myoclonic epilepsy (JME). We have analysed the long-term evolution of 22 patients treated from the outset with VPA. The following inclusion criteria were applied: (1) unequivocal diagnosis of JME; (2) treatment should be initiated with VPA monotherapy; and (3) follow-up for more than 5 years. Twenty-two patients (15 females, seven males) were studied and their EEG recordings were analysed. Their mean age was 28 years (range: 20-40 years) and their mean follow-up was 7.7 years (range: 5-17 years). Four of them suffered persistent seizures despite optimal VPA dosage and needed the addition of a second drug (lamotrigine in three cases, clobazam in one case). All of our patients who continued their treatment are seizure-free. VPA effectively controlled all seizures in 80% of patients. The discontinuation of drug therapy lead to a very high rate of relapses. With accurate diagnosis and appropriate therapy, seizures in JME can be effectively controlled. VPA is a very effective antiepileptic drug in controlling the seizures of JME, but many patients relapse after VPA discontinuation. Thus, JME may require lifelong therapy.
Levetiracetam is a new antiepileptic drug with a chemical structure similar to piracetam, but different pharmacological properties. The pharmacokinetic profile of levetiracetam closely approximates the ideal characteristics expected of an antiepileptic drug: good bioavailability, linear kinetics, rapid achievement of steady-state concentrations, minimal protein binding and minimal metabolism. It has been approved as add-on therapy for the treatment of partial-onset seizures in adults. Its efficacy has been proved through four pivotal double-blind, aleatorized, placebo-controlled trials. Levetiracetam is well-tolerated and the incidence of adverse events is similar to placebo. There is no evidence of any specific interactions between levetiracetam and digoxin, warfarin, probenecid or other antiepileptic drugs. Preclinical studies have shown potential efficacy against generalized seizures. Antidystonic and antimyoclonic effects have been also suggested. There are few data of its efficacy on monotherapy and pediatric population.
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BACKGROUND: It is known the presence of sudden falls or epileptic drop-attacks (DA) in patients with partial epilepsy. OBJECTIVE: To review the clinical and electroencephalographic manifestations in our patients with partial epilepsy and DA. PATIENTS AND METHODS: Fifteen patients (9 males/6 females) over 18 years with partial epilepsy and epileptic falls were selected. RESULTS: The mean age was 39 years (24-56 years). The mean age at seizure onset were 13 years (8 months-49 years) for partial seizures and 26 years (2-54 years) for DA. Secondary generalized or not, all patients had complex partial seizures, associated with simple partial seizures in five (34%). All were treated with politherapy, but a good control was not achieved. EEG recordings showed frontal focus in 7, temporal focus in 8, secondary bilateral synchrony in 9, and increase of electroencephalographic abnormalities during sleep in 9. Cognitive and emotional disorders were observed in 8 and 6 patients, respectively. Nine patients suffered from status epilepticus. The causal lesions were connatal encephalopathy in 8 and criptogenic in the other 7. The main consequence of DA was recurrent craneal trauma in 9 patients. CONCLUSIONS: The presence of DA is considered an ominous change in the evolution of a partial epilepsy. It's associated with mental deterioration and emotional disturbances and with drug resistance.
INTRODUCTION: The commonest reflex seizures are those induced by visual stimuli, and amongst these, those provoked by intermittent luminous stimulus. DEVELOPMENT: A directed anamnesis and suitable intermittent light stimulation are important during electroencephalographic studies for the confirmation of the diagnosis of photosensitive epilepsy. The photogenic epilepsies, that is those in which all the epileptic seizures are provoked by visual stimuli, form a small group of epilepsies within the idiopathic generalized epilepsies with their onset during adolescence. These seizures have had great social impact, since media diffusion of the possibility of their appearance whilst watching television or playing video games. CONCLUSION: The correct diagnosis and preventive measures, together with the correct anti-epileptic treatment are in favour of a good prognosis in the great majority of patients.
INTRODUCTION: Reflex seizures are provoked by a specific sensory stimulus. Approximately 6% of all epileptic patients have reflex seizures. For identification of these seizures it is necessary to take a directed history and make an EEG study whilst the patient is being exposed to the stimulus, which will confirm the diagnosis. DEVELOPMENT: Many stimuli are effective in provoking reflex seizures, the commonest are visual. Amongst the various epileptic syndromes there are different types of epilepsies with reflex seizures which generally correspond to idiopathic generalized epilepsies. The physiopathogenic mechanisms are usually complex. The cerebral cortex corresponding to the function which induces the epileptic crisis is hyperexcitable, and is the cause of an identifiable lesion or dysfunction without an underlying lesion. CONCLUSION: The diagnostic importance of reflex seizures is that when some formerly drug-resistant patients can control the mechanism which triggers off their seizures they attain good control of them.
BACKGROUND: Patients with late-onset Alzheimer's disease show a higher frequency of the APOE-4 than controls. The usefulness of the APOE genotyping in the diagnosis of the disease is controversial. Recently, an age dependent prevalence of APOE-4 in Alzheimer's disease has been described, with a maximum frequency for patients with an age at onset between 65 and 80 years. Additionally, the APOE-4 frequency in healthy controls is similar among the different age-groups, including healthy octogenarians. These data suggest that APOE-4 determines when and not who will develop the disease. PATIENTS AND METHODS: The APOE genotype was defined following a previously described PCR-protocol. We analysed 120 patients with clinically defined probable Alzheimer's disease and 250 controls from the same Caucasian population (Austrias, Northern Spain). RESULTS: We found a significantly higher frequency of the APOE-4 in patients, compared to controls (p = 0.00001). The prevalence of this allele was 65% among patients with an age at onset 66-70, falling to 36% and 18% in patients younger than 65 and older than 80 years, respectively. The average age (SD) at onset did not differ between the E-44 (69 years), E-34 (73 years) and E-33 (73 years). APOE-4 frequency was similar between the different age-groups of controls, including healthy octogenarians. CONCLUSIONS: In Asturias, APOE genotyping can not be used for the presimptomatic diagnosis of Alzheimer's disease. However, individuals carrying this allele would have a higher probability of developing the disease at an age between 65 and 80 years if they are predisposed (genetically and/or environmentally) to the disease.
An association between a five-base-pair deletion/insertion DNA polymorphism at the alpha(2) macroglobulin gene (A2M) and late-onset Alzheimer's disease (LOAD) has been recently described. We developed a PCR assay to analyze this polymorphism in 190 LOAD patients (older than 65 years) and 400 controls from Spain. Controls were stratified into three groups: <65 years (n = 200), 65 to 80 years (n = 100), and 81 years or older (n = 100). We found a significantly higher frequency of carriers of the D allele in patients older than 81 years compared to controls older than 81 years (p = 0.0012). In addition, the frequency of the D allele was significantly lower in controls older than 81 years compared to controls younger than 65 (p = 0.048). Our work suggests that the D allele confers an age-dependent increased risk to develop late-onset Alzheimer's disease.
OBJECTIVES: Several lines of evidence suggest that the endothelial constitutive nitric oxide synthase (ecNOS) and angiotensin converting enzyme (ACE) may have a role in Alzheimer's disease. ACE is widely expressed in the brain, and a DNA polymorphism at the ACE gene has been linked to the risk for late onset Alzheimer's disease. Nitric oxide (NO) production by microglial cells, astrocytes, and brain microvessels is enhanced in patients with Alzheimer's disease. There is a growing evidence that NO is involved in neuronal death in Alzheimer's disease, and the oxidative stress caused by NO in the brain could be a pathogenic mechanism in Alzheimer's disease. The objective was to determine if two DNA polymorphisms at the ecNOS and ACE genes that have been linked with different levels of enzyme expression, have some effect on the risk of developing late onset Alzheimer disease. METHODS: A total of 400 healthy controls younger than 65 years and 350 patients with Alzheimer's disease (average age 72 years) were genotyped for the ACE and ecNOS polymorphisms. To define a possible role for these polymorphisms in longevity 117 healthy controls older than 85 years were also analysed. Genomic DNA was obtained and amplified by polymerase chain reaction, and genotypes were defined following a previously described procedure. Gene and genotype frequencies between patients and controls were compared statistically. RESULTS: Gene and genotype frequencies for the ecNOS and ACE polymorphisms did not differ between both groups of healthy controls (<65 years and >85 years). EcNOS gene and genotype frequencies were similar between patients and controls. There was a slight but significantly increased frequency of the ACE-I allele among patients with Alzheimer's disease compared with controls (p=0.03; OR=1.28, 95%CI= 1.04;1.58). CONCLUSIONS: The ACE-I allele was associated with a slightly increased risk of developing late onset Alzheimer's disease.
The choice of the adequate antiepileptic treatment is based on the clinical experience more than rationality. During some decades, the combination of two antiepileptic drugs was considered the initial treatment but monotherapy showed more advantages (effectiveness, fewer adverse events, fewer teratogenic effects and better compliance). New antiepileptic drugs have increased our interest and knowledge of the epilepsies. They have changed some of our therapeutical schemes. Sodium valproate continues to be considered the choice treatment for all the idiopathic, cryptogenic and symptomatic generalized epilepsies. Lamotrigine and topiramate are two valid alternatives in these epileptic syndromes. In West's syndrome vigabatrin is considered the initial treatment. Carbamacepine, vigabatrine and tiagabine are not indicated in the treatment of generalized idiopathic epilepsies especially in patients with absence seizures. In focal epilepsies, both cryptogenic and symptomatic all the antiepileptic drugs have shown efficacy and the choice treatment is based on the adverse events and the teratogenic power. Prospective studies in patients with the same type of seizures and epileptic syndromes will allow us to determine the more adequate antiepileptic treatment.