SNOS - Sistema Nervoso e Orgãos dos Sentidos (Doenças neurológicas e dos orgãos dos sentidos)
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- Cooling therapy for acute strokePublication . Correia, M.; Silva, M.; Veloso, M.Abstract BACKGROUND: Recent studies in acute stroke patients have shown an association between body temperature and prognosis. OBJECTIVES: Our objective was to assess the effects of cooling when applied to patients with acute ischaemic stroke or primary intracerebral haemorrhage. SEARCH STRATEGY: We searched the Cochrane Stroke Group's trial register (last searched in March 1999), plus MEDLINE searched up to November 1998 and EMBASE searched from January 1980 to November 1998. We contacted investigators, pharmaceutical companies and manufacturers of cooling equipment in this field. SELECTION CRITERIA: All completed randomised controlled trials or controlled clinical trials, published or unpublished, where cooling therapy (therapy given by physical devices or antipyretic drugs primarily to lower body temperature independently of basal temperature at the beginning of treatment) was applied up to two weeks of an acute ischaemic stroke or primary intracerebral haemorrhage. DATA COLLECTION AND ANALYSIS: Two reviewers independently searched for relevant trials. MAIN RESULTS: No randomised trials or controlled trials were identified; one placebo-controlled trial of metamizol is currently underway. REVIEWER'S CONCLUSIONS: There is currently no evidence from randomised trials to support the routine use of physical or chemical cooling therapy in acute stroke. Since experimental studies showed a neuroprotective effect of hypothermia in cerebral ischaemia, and hypothermia appears to improve the outcome in patients with severe closed head injury, trials with cooling therapy in acute stroke are warranted.
- Cefalea racimos en una niña de 3 añosPublication . Garrido, C.; Tuna, A.; Ramo, S.; Temudo, T.Summary. Introduction. Cluster headache is a rare disorder in childhood. We identified, in the literature, 64 cases of cluster headache starting at or before 18 years (only 17 of them began before 10 years old). All patients met the criteria of the International Headache Society. Russell et al demonstrated recently that the cluster headache is an inherited disorder in some families. They conclude that the gene is present in 3 to 4% of males and 7 to 10% of females with cluster headache and that it has an autossomal dominant transmission. Clinical case. The authors report the clinical case of a five-year-old child with cluster headache starting at three years. This paper reviews the differential diagnosis and the treatment of cluster headache
- Recessive ataxia with ocular apraxia: review of 22 Portuguese patients.Publication . Barbot, C.; Coutinho, P.; Chorão, R.; Ferreira, C.; Barros, J.; Fineza, I.; Dias, K.; Monteiro, J.; Guimarães, A.; Mendonça, P.; Moreira, M.; Sequeiros, J.Abstract BACKGROUND: The recessive ataxias are a heterogeneous group of neurodegenerative disorders characterized by cerebellar ataxia associated with a number of different neurologic, ophthalmologic, or general signs. They are often difficult to classify in clinical terms, except for Friedreich ataxia, ataxia-telangiectasia, and a relatively small group of rare conditions for which the molecular basis has already been defined. OBJECTIVES: To study the clinical presentation and to define diagnostic criteria in a group of Portuguese patients with ataxia and ocular apraxia, an autosomal recessive form without the essential clinical and laboratory features of ataxia-telangiectasia. PATIENTS AND METHODS: We reviewed 22 patients in 11 kindreds, identified through a systematic survey of hereditary ataxias being conducted in Portugal. RESULTS: Age at onset ranged from 1 to 15 years, with a mean of 4.7 years. The duration of symptoms at the time of last examination varied from 5 to 58 years. All patients presented with progressive cerebellar ataxia, the characteristic ocular apraxia, and a peripheral neuropathy. Associated neurologic signs included dystonia, scoliosis, and pes cavus. Magnetic resonance imaging was performed in 16 patients, all of whom showed cerebellar atrophy. CONCLUSIONS: Ataxia with ocular apraxia may be more frequent than postulated before, and may be identified clinically using the following criteria: (1) autosomal recessive transmission; (2) early onset (for most patients in early childhood); (3) combination of cerebellar ataxia, ocular apraxia, and early areflexia, with later appearance of the full picture of peripheral neuropathy; (4) absence of mental retardation, telangiectasia, and immunodeficiency; and (5) the possibility of a long survival, although with severe motor handicap.
- Homozygosity mapping of Portuguese and Japanese forms of ataxia-oculomotor apraxia to 9p13, and evidence for genetic heterogeneity.Publication . Moreira, M.; Barbot, C.; Tachi, N.; Kozuka, N.; Mendonça, P.; Barros, J.; Coutinho, P.; Sequeiros, J.; Koenig, M.Abstract Ataxia with oculomotor apraxia (AOA) is characterized by early-onset cerebellar ataxia, ocular apraxia, early areflexia, late peripheral neuropathy, slow progression, severe motor handicap, and absence of both telangiectasias and immunodeficiency. We studied 13 Portuguese families with AOA and found that the two largest families show linkage to 9p, with LOD scores of 4.13 and 3.82, respectively, at a recombination fraction of 0. These and three smaller families, all from northern Portugal, showed homozygosity and haplotype sharing over a 2-cM region on 9p13, demonstrating the existence of both a founding event and linkage to this locus, AOA1, in the five families. Three other families were excluded from this locus, demonstrating nonallelic heterogeneity in AOA. Early-onset cerebellar ataxia with hypoalbuminemia (EOCA-HA), so far described only in Japan, is characterized by marked cerebellar atrophy, peripheral neuropathy, mental retardation, and, occasionally, oculomotor apraxia. Two unrelated Japanese families with EOCA-HA were analyzed and appeared to show linkage to the AOA1 locus. Subsequently, hypoalbuminemia was found in all five Portuguese patients with AOA1 with a long disease duration, suggesting that AOA1 and EOCA-HA correspond to the same entity that accounts for a significant proportion of all recessive ataxias. The narrow localization of AOA1 should prompt the identification of the defective gene.
- Improvement in the molecular diagnosis of Machado-Joseph diseasePublication . Maciel, P.; Costa, M.; Ferro, A.; Rousseau, M.; Santos, C.; Gaspar, C.; Barros, J.; Rouleau, G.; Coutinho, P.; Sequeiros, J.Abstract BACKGROUND: Direct detection of the gene mutation allows for the confirmation of the clinical diagnosis of Machado-Joseph disease (MJD), the most frequent cause of autosomal dominant spinocerebellar ataxia worldwide. OBJECTIVE: To address the main difficulties in our national MJD predictive testing program. The first was the emergence of intermediate alleles, for which it is not yet possible to determine whether they will cause disease. The second was the issue of homoallelism, ie, homozygosity for 2 normal alleles with exactly the same (CAG)(n) length, which occurs in about 10% of all test results. METHODS: A large pedigree with 1 affected patient carrying a 71 and a 51 CAG repeat and 2 asymptomatic relatives carrying the 51 CAG repeat and normal-size alleles underwent clinical and molecular studies. Intragenic haplotypes for these alleles were determined. A representative sample of the healthy population in the region was obtained to assess the distribution of the normal (CAG)(n) length. We established the genotype for 4 intragenic polymorphisms in the gene for MJD (MJD1) in 21 homoallelic individuals, to distinguish their 2 normal chromosomes. In addition, we developed a new Southern blot method to completely exclude cases of nonamplification of expanded alleles in the homoallelic individuals. RESULTS: The study of the family in which the 51 CAG repeat was found suggests that the allele is apparently not associated with disease. These intermediate alleles were not present in a large sample of the healthy population from the same region. Intragenic polymorphisms allowed distinction of the 2 different normal alleles in all cases of homoallelism. The absence of an expanded allele was also confirmed by Southern blot. CONCLUSIONS: We propose an improved protocol for molecular testing for MJD. These strategies, developed to overcome the practical difficulties mostly in the presymptomatic and prenatal diagnosis of MJD, should prove useful for other polyglutamine-related disorders.
- Leucoencefalitis aguda hemorrágica de Weston Hurst. Estudio neuropatológico de un casoPublication . Fontoura, P.; Mendes, A.; Correia, M.; Melo-Pires, M.Summary. Introduction. Acute hemorrhagic leukoencephalitis (AHL), or Hurst disease is a rare, usually fatal, disease, probably due to an autoimmune cross reaction against myelin antigens present in the central nervous system, and which forms a spectrum of postinfeccious demyelinating diseases with acute disseminated encephalomyelitis. Case report. The patient was a 21 year old female who presented with an acute encephalopathy and generalized seizures following a 15 day febrile syndrome attributed to amygdalitis; a laboratory work-up, including CSF, was non-diagnostic, and a brain CT scan revealed diffuse cerebral edema. After 12 days the patient died from nosocomial pneumonia and multi-organ failure; neuropathological examination of the brain confirmed the diagnosis of Hurst acute hemorrhagic leukoencephalitis, with a weak perilesional inflammatory reaction, unlike the usual picture in AHL. Discussion. AHL should be a part of the differential diagnosis of acute encephalopathic diseases, particularly if preceded by systemic infections. The atypical laboratory findings, and the impossibilty of performing a brain MRI were obstacles to the diagnosis in this case. The relative paucity of the perivascular infiltrate is an atypical finding, and could be due to apoptotic clearance of the inflammatory cells, as has been described in other autoimmune demyelinating diseases.
- In utero meconium exposure increases spinal cord necrosis in a rat model of myelomeningocelePublication . Correia-Pinto, J.; Reis, J.; Hutchins, G.; Baptista, M.; Estevão-Costa, J.; Flake, A.; Leite-Moreira, A.Abstract BACKGROUND/PURPOSE: The rationale for in utero repair of myelomeningocele has been supported experimentally by the observation of preserved neural function after prenatal closure of surgically created defects compared with nonrepaired controls. The mechanism of injury to the exposed neural elements is unknown. Postulated mechanisms include trauma to the herniated neural elements or progressive injury from amniotic fluid exposure as gestation proceeds. A component of amniotic fluid that may contribute to neural injury is meconium. In the current study the effect of human meconium on the exposed spinal cord in a fetal rat model of myelomeningocele was examined. METHODS: Twenty time-dated pregnant rats underwent laparotomy at 181/2 days of gestation. The exposed uterus was bathed in ritrodrine for tocolysis. The amniotic cavity was opened over the dorsal midline of the fetal rat, and, under a dissecting microscope (x25), a 2- to 3-level laminectomy was performed. Under magnification (x40), the translucent dura was opened using a 25-gauge needle as a knife. Two fetuses per dam were operated on. In the control group, the amniotic fluid was restored with saline solution, whereas in the experimental group a solution of Human meconium diluted (10%) in saline was used to restore the amniotic fluid. Fetuses were harvested by cesarean section at 211/2 days' gestational age. The liveborn pups were then killed and fixed in 10% formaline. Sections 10 micrometer thick were stained with H&E and studied by light microscopy for evidence of spinal cord injury. RESULTS: Seven of 20 (35%) experimental rat pups and 6 of 20 (30%) control rat pups were liveborn. All liveborn pups had severe paralysis of the hindlimbs and tail, so that functional differences between the 2 groups could not be detected. Histologic examination of 13 spinal cords at the site of surgical exposure showed that necrosis of neural tissue in 5 of 7 meconium-exposed rat pups was increased when compared with that observed in the 6 fetuses exposed to amniotic fluid without meconium. In general, inflammation was greater and repair processes appeared delayed in meconium-exposed rat pups. CONCLUSIONS: Exposure of the spinal cord of fetal rats to amniotic fluid by surgically created myelomeningocele leads to severe functional impairment. Histologically recognizable necrosis of neural elements was increased in those animals that were exposed to diluted human meconium in the amniotic fluid. The results support the hypothesis that meconium may contribute to the pathophysiology of spinal cord injury observed in myelomeningocele.
- [Infection due to Mycoplasma pneumoniae: three cases with neurological complications].Publication . Cunha, J.; Madalena, C.; Guimarães, P.; Sousa, A.; Temudo, T.Summary. Introduction. Mycoplasma pneumoniae infection has been associated with severe central nervous system diseases. The pathogenesis of these disorders is unknown and the treatment uncertain. Case reports. The authors present three cases of central nervous system diseases: acute transverse myelitis, cerebellitis and encephalomyelitis associated with M. pneumoniae infection. Conclusions. M. pneumoniae infection should be considered in all cases of severe acute central nervous system symptomatology. El Mycoplasma pneumoniae es un agente implicado frecuentemente en infecciones respiratorias de niños y adultos [1,2]. Se pueden producir complicaciones extrarrespiratorias básicamente mucocutáneas (eritema multiforme, eritema nudoso, síndrome de StevenJohnson), cardíacas (miocarditis, pericarditis), articulares (artritis), hematológicas (anemia hemolítica, trombocitopenia, coagulación vascular diseminada), pancreatitis, salpingitis y complicaciones neurológicas [13]. La implicación del sistema nervioso central (SNC) se estima en aproximadamente un 0,1% del total de infecciones producidas por M. pneumoniae, y puede afectar al 7% de los pacientes hospitalizados a causa de una infección producida por este agente [2,3]. Las complicaciones neurológicas incluyen: encefalitis, meningoencefalitis, encefalomielitis, polirradiculoneuropatía (como el síndrome de GuillainBarré), cerebelitis, psicosis, mielitis transversa y coma [14]. Presentamos tres casos clínicos con complicaciones neurológicas en el contexto de una infección por M. pneumoniae (mielitis transversa, cerebelitis, encefalomielitis), cuyo diagnóstico se estableció a partir de los análisis clínicos y los exámenes auxiliares de diagnóstico efectuados, principalmente las serologías seriadas. A infecção por Mycoplasma pneumoniae tem sido associada a múltiplas complicações neurológicas. A patogénese destas permanece incerta e o seu tratamento controverso. Casos clínicos. Os autores apresentam três casos de complicação neurológica em contexto de infecção pelo M. pneumoniae: mielite transversa, cerebelite e encefalomielite. Conclusão. A infecção por M. pneumoniae deve ser considerada em todos os casos de sintomatologia severa aguda do sistema nervoso central
- ALTERAÇÕES VÉSICO-ESFINCTERIANAS NO PARKINSONISMOPublication . Andrade, M.; Trêpa, ADepois de uma breve revisão da euroanatomia e da neurofisiologia vésico-esfincteriana é feita uma análise das alterações vésico-esfincterianas no Parkinsonismo e a sua correlação com a doença, com os fármacos utilizados no tratamento desta doença e com eventuais problemas prostáticos. Conclui-se que cada caso terá obrigatoriamente que ser estudado individualmente.Further to a brief review of the vesical-sphincterian neuroanatomy and neurophisology, we analyse the vesical-sphincterian dysfunction in the Parkinson disease and its relation with this illness, with the drugs used in its treatment and with eventual prostatic problems. We therefore conclude that each case should be studied individually.
- Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large familyPublication . Alonso, I.; Barros, J.; Tuna, A.; Coelho, J.; Sequeira, J.; Silveira, I.; Coutinho, P.Background: Different mutations in the 1A-subunit of the brain P/Q-type calcium channel gene (CACNA1A) are responsible for familial hemiplegic migraine (FHM), episodic ataxia type 2, and spinocerebellar ataxia type 6 (SCA6). Missense and splice site mutations have been found in FHM and episodic ataxia type 2, respectively, whereas a CAG repeat in the CACNA1A gene was found expanded in patients with SCA6. Objective: To identify the disease causing mutation in a large family of patients with phenotypes of hemiplegic migraine with or without cerebellar signs or permanent cerebellar ataxia without migraine inherited in a dominant manner. Patients and Methods: We examined 15 patients from a large family identified through a systematic survey of hereditary ataxias being conducted in Portugal. Linkage analysis was performed with CACNA1A gene markers, and mutation analysis was performed by single strand conformational polymorphism analysis and sequencing. Results: Genetic linkage analysis with CACNA1A intragenic markers showed positive LOD scores. The maximal LOD score was obtained with the polymorphic CAG repeat (Zmax=4.47, =0). By single-strand conformational polymorphism analysis, a shift in exon 13 of the CACNA1A gene was detected in all patients.AG-to-A substitution was then identified, resulting in an arginine-to-glutamine change at codon 583 of this calcium channel 1A-subunit. Conclusions: The disease-causing mutation in this family was identified, showing that a unique mutation in the CACNA1A gene causes several phenotypes, including those of SCA6 and FHM, thus suggesting that SCA6 and FHM are not only allelic diseases but are the same disorder with a large phenotypic variability.