Abstract：
INTRODUCTION AND DEVELOPMENT:Isolated mental retardation is rarely caused by metabolic factors. The application of a standardised protocol offers low diagnostic performance. There is no international agreement about what type of metabolic examination must be applied in patients with unspecific mental retardation. Nevertheless, and although they are infrequent, there are a number of inborn errors of metabolism that can present in this way. Urea cycle disorders, different forms of homocystinuria, creatine transport deficiency, 4-hydroxybutyric aciduria, Sanfilippo disease, adenylosuccinate lyase deficit and certain extraordinarily rare congenital disorders of the glycosylation of proteins are some examples of them. It is important first to consider those for which treatment is available and that could be diagnosed genetically for possible family counselling. CONCLUSIONS:Rather than applying a standardised study protocol it is essential is to perform a thorough appraisal of the signs and symptoms associated with the mental retardation (psychiatric disorders, autistic traits, predominant compromise of language, signs of cerebellar dysfunction, epilepsy, dysmorphic traits), since in most disorders it is necessary to apply specific analyses, which are not included in conventional metabolic studies and are only available in certain reference centres.
journal_name
Rev Neuroljournal_title
Revista de neurologiaauthors
García-Cazorla A,Pérez-Dueñas B,Pineda M,Artuch R,Vilaseca MA,Campistol Jsubject
Has Abstractpub_date
2006-10-10 00:00:00pages
S187-92eissn
0210-0010issn
1576-6578pii
rn2006420journal_volume
43 Suppl 1pub_type
杂志文章,评审abstract：INTRODUCTION:SPECT, EEG AND CT scan offer information with several pathophysiologic meanings. Their results vary with time and according to the vascular affected territory. OBJECTIVE:We wanted to study how the sensibility varies and the relationship with the clinic of SPECT, qEEG and CT scan in the acute, subacute and...
journal_title：Revista de neurologia
pub_type： 临床试验,杂志文章
doi：
更新日期：1998-08-01 00:00:00
abstract：:Treatment of stroke is effective when given straight away at the onset of symptoms. Our objective was to find what the present latent periods in the medical attention of stroke patients are. A study was made in 18 hospital neurology units. The time elapsed between onset of the stroke and being attended by a doctor in ...
journal_title：Revista de neurologia
pub_type： 临床试验,杂志文章,多中心研究
doi：
更新日期：1996-04-01 00:00:00
abstract：INTRODUCTION:Episodes of recurrent bacterial meningitis can occur in patients due to either congenital or acquired disorders. Congenital deformity of the bony labyrinth can be linked to a fistulous tract communicating it with the intracranial subarachnoid space. Mondini deformity is a frequent malformation in congenita...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2004-11-16 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:In epidemiological investigation valid, reliable means of diagnosing the illnesses studies are essential. OBJECTIVE:To validate the self-questionnaire 'Alcoi 1995' for the diagnosis of migraine. METHODS:We used the questionnaire Alcoi-1992 (which had been validated previously) to find the prevalence of m...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：1997-08-01 00:00:00
abstract：INTRODUCTION:The end of our century has been characterized by a quick scientific and technological growth. Among other, the brain, the human genome project and the computer science, they are some of the numerous fields that characterize this revolution. DEVELOPMENT:In the following work, we will show as these three fi...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2001-09-16 00:00:00
abstract：AIM:To evaluate the efficiency of topiramate (TPM), an antiepileptic medication (AEM) which possesses multiple mechanisms of action and good pharmacokinetics, in the different types of childhood epilepsy and to make an appraisal of its value in migraines, bipolar disorder, eating disorders and neuropathic pain, accordi...
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：:Disorders of gait are a common problem in elderly people. It is estimated that over 15% of people aged over 65 years have disorders of gait. Disorders of balance are also common in old age, with increased risk of falling and lesions due to falls. Every year 20-30% of the elderly people living alone have falls. The cau...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2000-07-01 00:00:00
abstract：INTRODUCTION:The subarachnoid haemorrhage non traumatic assumes between the 6-8% of all acute cerebrovascular, besides is more frequent in young persons. The mortility and mortality is high and the predictive factors of the worse prognostic in unknown. MATERIAL AND METHODS:In the present work, we realized a study of t...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：1997-01-01 00:00:00
abstract：AIM:To analyze the importance of the neurotransmitter glutamate in the pathogenesis of Alzheimer's disease (AD). DEVELOPMENT:Elements of the physiological glutamatergic neurotransmission are reviewed, such as the neuronal types that utilize it, glutamatergic receptors and their characteristics, and glutamate transport...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2006-04-01 00:00:00
abstract：INTRODUCTION:From time to time the debate over whether early-onset epileptic seizures are harmless or have harmful effects on the developing brain reappears. DEVELOPMENT:We evaluated the results of clinical studies reporting the long-term cognitive development of children who suffer from early-onset epilepsies, that i...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2007-05-21 00:00:00
abstract：:INTRODUCTION. Takotsubo syndrome (TTS) is a rare condition that mimics an acute myocardial infarction. It is associated with precordial pain, ST segment elevation, absence of coronary occlusion and reversible deformation of the left ventricle due to anteroapical dyskinesia that is reminiscent of a Japanese art of fish...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2012-12-16 00:00:00
abstract：INTRODUCTION:Devic's optic neuromyelitis is an unusual condition characterized by the association of unilateral or bilateral optic neuritis and myelitis, both of which are relapsing. Prognosis is usually poor, both for the optic nerve and for the spinal medulla which becomes cavitated. This leads to severe handicap and...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：1999-03-01 00:00:00
abstract：INTRODUCTION:Vasculitis or angiitis is the term used to define the inflammation of the vessels, either blood or lymphatic, which causes may be primary related to immunological disorders, or secondary, with great variety of causal factors. CASE REPORT:We present a very uncommon case of a 36 year old man with brain vasc...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2005-06-16 00:00:00
abstract：INTRODUCTION:Progressive supranuclear palsy is a disease that normally presents only sporadically in adults and courses in a progressive, chronic manner. It is characterised by the presence of supranuclear ophthalmoplegia, postural instability, a Parkinsonian syndrome, pseudobulbar affect, cervical dystonia and cogniti...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2004-12-01 00:00:00
abstract：OBJECTIVE:To review the incidence and causes of the infections and metabolic diseases of the nervous system in patients with systemic neoplasias. DEVELOPMENT:Patients with immunodeficiency, particularly those with hematological neoplasias and persons treated with immunosuppressive drugs have a considerable tendency to...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2000-12-16 00:00:00
abstract：INTRODUCTION AND METHOD:The issue regarding the relations between behaviour and the brain is no longer the specific goal of neuropsychology, but rather that of the coordinated multidisciplinary activity of all the disciplines that go to make up the neurosciences. The specific contribution of neuropsychology to this mul...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2003-03-01 00:00:00
abstract：INTRODUCTION:The epidemiology of multiple sclerosis (ME) in the Alcoi area has been studied by our groups for many years. When studying the factors linked to ME in this area initially we observed that migration, contact with dogs and the textile industry were associated with the disorder. A later study, in which the mi...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2002-05-01 00:00:00
abstract：:A patient developed enlarged Gerstmann syndrome after left thalamic haematoma. Single photon emission computerised tomography (SPECT) showed left parietal-temporal cortical hypocapture. These findings would lead us to believe that the clinical picture of our patient was due to a thalamic-cortical diaschitic phenomenon...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：1995-09-01 00:00:00
abstract：:Today, the fact that sensory integration difficulties with a neurological basis exist and that they seriously condition the development of those individuals who suffer from them is widely accepted and acknowledged as being obvious by the vast majority of professionals working in the field of community healthcare. Howe...
journal_title：Revista de neurologia
pub_type：
doi：
更新日期：2017-02-24 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:The diagnosis and treatment of posterior plagiocephaly is one of the most controversial aspects of craniofacial surgery. PATIENTS AND METHODS:The purpose of this study is to describe a recent increase in the incidence of occipital plagiocephaly without synostosis in our hospital during the last 6 months. ...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：1998-11-01 00:00:00
abstract：:INTRODUCTION. Since James Parkinson published what can be considered the first treaty on the disease that bears his name in 1817, the scientific literature on this pathology has not ceased to grow. But the illness has also been represented in literature, the cinema and on television, where the symptoms, treatment and ...
journal_title：Revista de neurologia
pub_type： 历史文章,杂志文章
doi：
更新日期：2014-02-01 00:00:00
abstract：INTRODUCTION:Despite their importance, little attention has been given to the recognition of early markers of hyperactivity in the scientific literature and in everyday practice it can be difficult to separate some of the physiological behaviours displayed by older babies or preschool infants from pathological processe...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2006-02-13 00:00:00
abstract：OBJECTIVES:To test the clinical nature and diversity of specific language impairment (SLI) in Spanish individuals, in the framework of the neuropsycholinguistic model of Chevrie-Muller and the classification of Rapin and Allen. PATIENTS AND METHODS:Forty two language impaired children with normal intelligence and audi...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2003-02-01 00:00:00
abstract：INTRODUCTION:Hyperglycemia increases morbimortality in cerebral infarcts. In animal models, this relationship is only seen during the initial moments of cerebral ischaemia. The time needed in humans for cerebral damage to occur due to hyperglycemia is not known. MATERIAL AND METHODS:We included 194 patients admitted w...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：1998-05-01 00:00:00
abstract：INTRODUCTION:Hypophonia has been defined as a reduction in speech volume. It is an uncommon finding in acute stroke, mainly related to multiple deep infarcts. CLINICAL CASE:An 82 year old hypertensive woman was admitted to our hospital presenting acute right sided weakness and low speech volume. She was hypophonic and...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2001-10-16 00:00:00
abstract：INTRODUCTION:In recent years the demand for ambulatory neurological care has risen. Studying this situation can help to improve health care planning and the quality of the referrals from primary care. AIM:To analyse a number of variables involved in the first visits referred from primary care to neurology services. P...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2007-05-01 00:00:00
abstract：:The aim of our study was to compare a group of over 70 year-old patients suffering from spontaneous intracerebral haemorrhage with a similarly affected group under 70 years of age. With this in mind we carried out a prospective study of all patients admitted to the Neurology Service at the Virgen de la Arrixaca Hospit...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：1996-02-01 00:00:00
abstract：INTRODUCTION:The neurological concept of learning is approached from a cybernetic point of view, taking into account that a child should recognize a fact, learn it semantically and decided whether it is worth storing; the dynamic aspect of memory is the true motor of the ability to learn and all this is modulated by th...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：1998-08-01 00:00:00
