Abstract:
:An accurate diagnosis of a mentally retarded patient is a crucial step to design a successful treatment. The effects of genetic and environmental influences have to be clarified in the etiological approach. For that reason, we have to record a more appropriate family information, detailed prenatal, birth and postnatal patient history, and perform a thorough clinical examination to check for associated major and minor malformations. One of the major question to be resolved when faced with a mentally retarded patient is whether the disease is genetically or environmentally determined. The main purpose of this paper is to describe a general methodology we apply in genetic counselling of mental retardation including diagnosis, risks evaluation and psychological steps that we have to consider when we inform family members at risk.
journal_name
Rev Neuroljournal_title
Revista de neurologiaauthors
Lao Villadóniga JIsubject
Has Abstractpub_date
2001-10-01 00:00:00pages
S1-6eissn
0210-0010issn
1576-6578pii
rn2001328journal_volume
33 Suppl 1pub_type
杂志文章abstract:INTRODUCTION:In recent years, significant advances have been made in the physiology and the pharmacology of vestibular disorders. It is now possible to elaborate an approximation of the mechanisms of action of the drugs used in the symptomatic treatment of vertigo. DEVELOPMENT:These drugs usually have a number of diff...
journal_title:Revista de neurologia
pub_type: 杂志文章,评审
doi:
更新日期:2004-08-16 00:00:00
abstract:INTRODUCTION AND DEVELOPMENT:Medulloblastoma is a cerebellar small cell tumor, whose ancestor cell has not been yet identified in the human normal embriology: its exact origin is, in fact, still unknown. Nevertheless, one of the most acceptable possibilities facing the origin of the tumor is the remaining rests of cere...
journal_title:Revista de neurologia
pub_type: 杂志文章,评审
doi:
更新日期:2006-08-16 00:00:00
abstract:INTRODUCTION:The search for variables that mediate in the shift from mild cognitive impairment (MCI) to dementia is currently a very active field of research. In this area, the term cognitive plasticity or modifiability can be of great interest. Proof of the existence of plasticity in the elderly with MCI and its possi...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:2003-04-01 00:00:00
abstract::Epilepsy is a neurological disorder that affects 1-2% of the population. Despite the available treatments (drug therapy, resective surgery, vagus nerve stimulation), there is a significant subgroup of patients that continues to have disabling seizures. The indications of deep brain stimulation are exponentially growin...
journal_title:Revista de neurologia
pub_type: 杂志文章,评审
doi:
更新日期:2011-07-16 00:00:00
abstract:INTRODUCTION:The term 'frontotemporal lobar dementia' (FTLD) covers a group of neurodegenerative diseases that are very heterogeneous in their clinical expression, genetic component and histopathological features, and this has traditionally made it difficult to study and classify them. Patients usually present a progre...
journal_title:Revista de neurologia
pub_type: 历史文章,杂志文章,评审
doi:
更新日期:2008-12-01 00:00:00
abstract:INTRODUCTION:For conscious behaviours to continue, attention and working memory must be brought into play in order to match the data from the current reality with those in the long-term memory and to the sequential plans for adaptive action. PATIENTS AND METHODS:We present the preliminary findings of our study of 50 p...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:2005-01-15 00:00:00
abstract:INTRODUCTION:In the last years, the changes in glial cells during different alterations in the Central Nervous System have been studied. It is known that astrocytes and microglial cells are the glial cells which present the major reactivity. OBJECTIVE:The aim of this work was to analyze the glial cell changes induced ...
journal_title:Revista de neurologia
pub_type: 杂志文章,评审
doi:
更新日期:1999-09-01 00:00:00
abstract:INTRODUCTION:The early years of life, more especially the first three, are dominated by a series of anatomical-functional facts that express the progressive enrichment of behaviour through the process of neurological maturation, which is expressed as reaching the maximum level of functioning at each stage of developmen...
journal_title:Revista de neurologia
pub_type: 杂志文章,评审
doi:
更新日期:2013-09-06 00:00:00
abstract::Autism is a developmental disorder affecting social relationships, communication and flexibility of thought. These three basic aspects of autism may present in many different forms and degrees. Therefore autism should be considered to be a spectrum of autistic disorders rather than a single strictly defined condition....
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:1999-02-01 00:00:00
abstract:INTRODUCTION:Orthostatic tremor is a rare kind of tremor which is clinically characterised by a feeling of instability or being about to fall that is experienced on standing up, which disappears or improves on walking and is absent when sitting or lying down. AIM:To shed light on the main features of this tremor syndr...
journal_title:Revista de neurologia
pub_type: 杂志文章,评审
doi:
更新日期:2012-04-01 00:00:00
abstract:AIMS:To evaluate the presence of epileptiform discharges and the organisation of nocturnal sleep of autistic children without nocturnal polysomnographic epileptic seizures. SUBJECTS AND METHODS:Cross section analysis. SUBJECTS:21 boys and girls with autistic spectrum using DSM IV criteria between the ages of 4 and 12...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:2002-06-16 00:00:00
abstract:INTRODUCTION:People with a fibromyalgia diagnosis complain of having very poor cognitive functioning. In recent years, there has been an increasing interest to investigate which cognitive impairment is present in this disease. AIM:To review the published research on fibromyalgia and cognitive dysfunction. DEVELOPMENT...
journal_title:Revista de neurologia
pub_type: 杂志文章,评审
doi:
更新日期:2013-06-01 00:00:00
abstract:INTRODUCTION AND OBJECTIVE:When the clinical picture consists of prominent cognitive impairments (e.g. amnesia) with relatively mild behavioral symptoms, it can be very difficult to distinguish frontal lobe dementia (FLD) from Alzheimer disease (AD). However, these conditions may have distinct cognitive profiles that c...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:1998-09-01 00:00:00
abstract:INTRODUCTION:A spinal cord injury implies the loss of or alteration to the gait pattern. Stimulating the pattern generating centres in the sublesional spinal cord determines the appearance of flexion and extension automatisms that are useful for gait training in patients with spinal cord injuries. These centres can be ...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:2004-09-01 00:00:00
abstract:INTRODUCTION:Sequencing of the fragile X mental retardation 1 (FMR1) gene and the measurements of the gene product FMRP, have enabled protein quantification of variations within the FMR1 gene and FMRP-clinical correlations. DEVELOPMENT:This paper will review our knowledge of the regulation of FMR1 gene expression and ...
journal_title:Revista de neurologia
pub_type: 杂志文章,评审
doi:
更新日期:2001-10-01 00:00:00
abstract:INTRODUCTION:Scientific cooperation is essential for the advance of science. Bibliometrics and social network analysis offer evaluation indicators to analyse collaboration in scientific papers. The aim of this study is to characterize scientific collaboration patterns in Revista de Neurología between 2002 and 2006. MA...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:2008-06-01 00:00:00
abstract:INTRODUCTION:Only the organic and cryptogenic forms of frontal lobe epilepsy have been admitted by the ILAE, but according to several reports in the literature, it probably exists also an idiopathic form, at present not well recognized. OBJECTIVE:To study the differences between the organic and the cryptogenic forms o...
journal_title:Revista de neurologia
pub_type: 杂志文章,评审
doi:
更新日期:1998-06-01 00:00:00
abstract:INTRODUCTION:The direct application of different types of cells to the central nervous system (CNS) by means of transplants, so-called cell therapy, is an experimental approach that promotes the characterisation of the cell and molecular mechanisms involved in the development, plasticity and regeneration of damage to t...
journal_title:Revista de neurologia
pub_type: 杂志文章,评审
doi:
更新日期:2009-11-01 00:00:00
abstract:INTRODUCTION:Addiction to drugs is a chronic illness with severe repercussions for those that consume them and to date has no known cure. Psychostimulants, such as ecstasy, are the most widely consumed illegal drugs among adolescents and young adults. AIMS:To describe and to analyse the different variables that can in...
journal_title:Revista de neurologia
pub_type: 杂志文章,评审
doi:
更新日期:2017-11-16 00:00:00
abstract:AIM:To review about novel aspects in the initial management of patients with spontaneous intracerebral hemorrhage (SICH) and to analyze a group of predictors with influence on the election of certain therapies and on the 30-day mortality. DEVELOPMENT:SICH often constitutes a critical illness. Thus, many SICH patients ...
journal_title:Revista de neurologia
pub_type: 杂志文章,评审
doi:
更新日期:2006-03-16 00:00:00
abstract::Traffic accidents (TA) are, after heart disease, cancer and stroke, the fourth death cause among the general population. Although the number of AT caused by diseases-excluding alcoholism- seems to be reduced, interaction between organic pathology and functional ability increases the importance of this problem. This pa...
journal_title:Revista de neurologia
pub_type: 杂志文章,评审
doi:
更新日期:1995-03-01 00:00:00
abstract:INTRODUCTION:A perispinal block (intradural and/or epidural) is a technique which is considered to be safe under certain conditions. Nevertheless, neurological complications are possible and may be associated with transient or permanent sequelae, as is shown by symptoms ranging from minor alterations (most commonly) to...
journal_title:Revista de neurologia
pub_type: 杂志文章,评审
doi:
更新日期:1999-09-16 00:00:00
abstract:AIM AND DEVELOPMENT:To debate about the application of on-going 'revolutions' in medical knowledge to Spanish neurological journals in the 21st century. This article reviews the current status of five revolutions in the field of health sciences, in general, and in neurological sciences, in particular: 1) the knowledge ...
journal_title:Revista de neurologia
pub_type: 杂志文章,评审
doi:
更新日期:2007-01-16 00:00:00
abstract:INTRODUCTION:Various neuropsychological studies have been conducted to determine the cognitive functioning of patients with Huntington s disease and their results have shown that the pattern of cognitive decline is thought to be typical of a frontal subcortical dementia. OBJECTIVES:To determine if significant differen...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:2003-07-01 00:00:00
abstract::We present a family study of multiple cavernomatosis which affected a boy of six, his mother and two brothers. It was seen clinically as epileptic crises, focal neurological defects and frequent headaches. In our case, the condition started as a syndrome of intracranial hypertension with progressive headache and vomit...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:1997-04-01 00:00:00
abstract:INTRODUCTION:Diagnosing Alzheimer's disease (AD) as soon as possible is critical to achieve an effective treatment of patients. AIM:To make up a test capable of differentiating those patients suffering from the early stages of AD compared to healthy people or patients with mild cognitive impairment (MCI). SUBJECTS AN...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:2007-04-16 00:00:00
abstract:INTRODUCTION:Valproic acid (VPA) is a useful antiepileptic drug for controlling different types of epilepsy. It has several side effects and is associated to increased body weight, as well as metabolic and endocrine disorders, including metabolic syndrome. AIM:To determine the prevalence of obesity and metabolic syndr...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:2015-09-01 00:00:00
abstract:OBJECTIVE:In this paper we review the main aetiologies of metabolic origin which cause epilepsy in children aged between 1 and 10 years. DEVELOPMENT:There are many aetiological causes of convulsive seizures. Seizures and epilepsies due to congenital errors of metabolism are a minority but should be known. Their identi...
journal_title:Revista de neurologia
pub_type: 杂志文章,评审
doi:
更新日期:2002-09-01 00:00:00
abstract:INTRODUCTION:Encephalitis due to NMDA receptors antibodies is a relatively common condition but it was under diagnosed until recently. It courses predictably and similarly in adults and children, although there are some differences, still less its association with tumours. CASE REPORT:A 3 years-old girl who was admitt...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:2012-11-16 00:00:00
abstract:INTRODUCTION AND DEVELOPMENT:Psychostimulant drugs encompass amphetamines, natural alkaloids like cocaine, and methyl-xanthynes. These drugs induce a strong dependence, manifested as sensitization and tolerance at a neurobiological level. Sensitization is currently being studied experimentally, and it is made up of two...
journal_title:Revista de neurologia
pub_type: 杂志文章,评审
doi:
更新日期:2006-08-01 00:00:00