Abstract：
INTRODUCTION AND AIMS:Mental retardation (MR) affects approximately 2-3% of the general population and around 75% of the known causes of MR are thought to have a genetic origin. The aim of this work is to describe a standardised model of diagnostic approach to patients with mental retardation of a genetic origin (MRGO). DEVELOPMENT:The clinician has to draw up a detailed case history and carry out a thorough dysmorphological physical examination that enables a reasonable differential diagnosis to be reached. The next step will be to request the complementary studies needed to confirm or reject the initial suspected diagnosis. Accurate information about the personal, prenatal (pregnancy) and perinatal (childbirth) history must also be collected. The postnatal history will also provide relevant clinical information. The familial history is a fundamental element of any genetic disease and must be gathered by drawing up the family tree or lineage. The physical and dysmorphological examination must be ordered, completed and detailed, and measurements of the somatometric parameters required to demonstrate and quantify the existence of an anomaly in any anatomical structure will also have to be made. Photos of the patient are a great aid because they allow comparison with recognisable dysmorphic syndromes. The last phase involves requesting complementary studies, including consultations with other specialists. The confirmation or exclusion of MR usually results from biochemical-metabolic, cytogenetic or molecular studies. CONCLUSIONS:In cases of MRGO a good patient record accompanied by a thorough physical and dysmorphological study allow the clinical geneticist to orientate the diagnosis in the right direction and to request the specific genetic laboratory tests to confirm (or reject) its causation.
journal_name
Rev Neuroljournal_title
Revista de neurologiaauthors
Ramos-Fuentes FJsubject
Has Abstractpub_date
2006-01-07 00:00:00pages
S93-8eissn
0210-0010issn
1576-6578pii
rn2005746journal_volume
42 Suppl 1pub_type
杂志文章,评审abstract：INTRODUCTION:Protein-energy malnutrition continues to affect millions of human beings in developing countries. Children suffer most from the shortage of nutrients because at early ages malnutrition has an important impact on the central nervous system. The changes that malnutrition triggers in the brains of these child...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2007-03-02 00:00:00
abstract：INTRODUCTION:Statins represent a group of pharmaceutical agents with proven effectiveness and scarce side effects; however, their widespread use increases the probability of the appearance of such adverse effects. DEVELOPMENT:We reviewed the articles that have been published on myotoxicity, neurotoxicity and other cas...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2008-07-01 00:00:00
abstract：: TITLE:Utilidad de la resonancia magnetica craneal para el diagnostico de la distrofia miotonica de tipo 1. : ...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2019-02-01 00:00:00
abstract：INTRODUCTION:Charcot-Marie-Tooth disease (CMT) is a neuropathy that affects sensory and motor nerves. The most common CMT subtype is CMT1A due to a PMP22 duplication of a 1.5 Mb fragment on the 17p11.2-p12. The development of a specific molecular technique that detects the PMP22 duplication is necessary for the diagnos...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2014-08-01 00:00:00
abstract：INTRODUCTION:The value of the P300 cognitive event-related potential in the diagnosis of Alzheimer subtype neurocognitive disorders is still incipient. Recent studies suggest that combining it with neuropsychological tests by cognitive domains would allow an objective and early characterisation of the cognitive impairm...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：10.33588/rn.7101.2019341
更新日期：2020-07-01 00:00:00
abstract：INTRODUCTION:The term idiopathic T-CD4 lymphocytopenia is used to describe a new syndrome, defined as reduced T-CD4 lymphocytes in persons with no evidence of HIV infection or other causes which would explain the immunosuppression (secondary to neoplasties, immunosuppressive treatment, hereditary immunodeficiencies, in...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：1999-02-16 00:00:00
abstract：:Autonomic dysfunction is a common manifestation in patients with in Parkinson's disease, which can sometimes precede motor impairment. It can be expressed as orthostatic and postprandial hypotension, supine hypertension, hypersalivation, constipation, delayed gastric emptying, dyshidrosis, bladder and sexual dysfuncti...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2015-04-16 00:00:00
abstract：:Of the different aspects of a series of neurobiological changes that take place throughout the life cycle of an individual, in this paper we examine those involved in the aging process. These changes have been associated on different scales, including on a macroscopic level, that take into account variations in the sh...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2003-03-16 00:00:00
abstract：INTRODUCTION:Surgery for resection of supratentorial lesions near the motor areas and/or internal capsule carries an associated risk of damage to cortical or subcortical motor pathways. Intraoperative brain mapping, using direct cortical electric stimulation, is a surgical adjunct used during lesionectomy in functional...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2009-06-16 00:00:00
abstract：INTRODUCTION:Aseptic meningitis is a process that is characterised by an inflammatory reaction of the meninges that is not due to any infectious agent. Its aetiology is varied and is most frequently caused by rheumatologic and/or autoimmune processes, chemical or medication-induced meningitis, the most notable drugs in...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2006-02-16 00:00:00
abstract：INTRODUCTION:It has been previously shown that cluster headache (CH) can involve some extratrigeminal areas. Occipital pain has been recognized in several patients, even as the origin of the attacks. Nevertheless, the proposals of topographic variations of CH have been mainly focused on the location of pain in either s...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2011-04-01 00:00:00
abstract：INTRODUCTION:Semantic dementia is a progressive, relatively selective disorder affecting the semantic system with involvement of the verbal and non-verbal functions. The clinical picture is well characterised despite the confusion that may be generated by the different ways of classifying it. AIM. To determine the clin...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2006-12-01 00:00:00
abstract：INTRODUCTION:Valproic acid (VPA) is a drug mainly used to treat epilepsy. Hyperammonaemic encephalopathy due to VPA is a rare but serious complication. The mechanism by which VPA influences the increase in ammonia consists in blocking the urea cycle, thereby inhibiting N-acetylglutamate synthase and diminishing acetyl ...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2017-11-01 00:00:00
abstract：:Few studies have been conducted on children and teenagers with borderline intelligence (BI) as a collective that shares this condition. In this paper we discuss the concept of intelligence and analyse the different cognitive profiles with which BI can be expressed. We also evaluate how aspects linked to a 'g' factor o...
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:Neurotoxoplasmosis (NTX) is one of the commonest opportunist infections in patients infected by the human immunodeficiency virus. It presents with a variety of clinical features in the immunocompromised patient. PATIENTS AND METHODS:We made a horizontal retrospective descriptive study of 88 patients with ...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2002-04-01 00:00:00
abstract：INTRODUCTION:Examination of the special bilingual student (5% of the bilingual student population of the USA) permits us to use not only (1) the statistical reports of the population coefficients and percentages), (2) measurements of progress or performance (age in years or grades of progress at school) and (3) the neu...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2001-09-01 00:00:00
abstract：INTRODUCTION:Inappropriate admissions to a hospital service generate unnecessary costs for our health care service. Most admissions to a hospital service come from the emergency department. The presence of a neurologist to attend hospital emergencies would be an important factor allowing admission criteria to be stream...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2006-12-16 00:00:00
abstract：INTRODUCTION:Attention deficit hyperactivity disorder (ADHD) is a common neuropsychiatric disorder in the adulthood. It's diagnosis is a complex process in which a screening tool can be useful. AIM:To analyze the six-question Adult ADHD Self-Report Scale (ASRS v. 1.1) validity in an outpatient clinical context. SUBJE...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2009-05-01 00:00:00
abstract：INTRODUCTION:In neuropathic pain, as occurs in epilepsy, researchers are striving to find a drug capable of inhibiting the pain-generating ectopic discharges that are produced as a result of neuronal hyperexcitability. This is mediated by ionic exchanges across the channels of the synaptic membrane. This is why the dru...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2007-10-01 00:00:00
abstract：:It has been stated that findings in neonatal neurological examinations can play a role as a pointer to adverse developmental outcome. The description of the examinations, and their presence or absence differed among authors without clear reference to their physiological variability ranges. We approached the study of s...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2002-03-01 00:00:00
abstract：INTRODUCTION:The inmuno checkpoints inhibitors are new revolutionary treatment for many neoplastic diseases in advanced stadium. There are described several types of neurological complications induced by nivolumab: polyneuropathy, seizures, radiculitis and myasthenia gravis disease. CASE REPORT:A 65 years old man with...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：10.33588/rn.6808.2018497
更新日期：2019-04-16 00:00:00
abstract：INTRODUCTION:Since description of the expansion of the number of CTG trinucleotides on the long arm of chromosome 19 in the 19 q 13.2-13.3 interval as being responsible for myotonic dystrophy (DM), many studies have established a direct relationship between the size of the expansion and the severity of the manifestatio...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：1999-09-16 00:00:00
abstract：INTRODUCTION:Visual phenomena can be symptoms of epileptic seizures, although with an uncertain clinical meaning and relationship with the epileptogenic focus. AIMS:To describe the clinical implications of visual epileptic seizures according to their signs and symptoms in adults. PATIENTS AND METHODS:Data were collec...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2015-03-16 00:00:00
abstract：TITLE:Signo del cerebelo blanco (reversal sign). : ...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2014-01-01 00:00:00
abstract：INTRODUCTION AND OBJECTIVE:The treatment of non traumatic intra cerebral haemorrhage is one of the therapeutic challenges at the present time. In spite of present day technology and advances in understanding its physiopathology, the prognosis is the same as it was fifteen years ago. We review the surgical treatments us...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2001-06-01 00:00:00
abstract：INTRODUCTION:The determination of human leukocyte antigen (HLA) class II genotype is widely used to confirm the diagnosis of narcolepsy with or without cataplexy. The HLA genotyping is reliable, easy to perform and reassures the clinician. It is also less invasive than other methodologies and is in accordance with the ...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2014-01-16 00:00:00
abstract：INTRODUCTION AND DEVELOPMENT:There is a correlation between the higher brain functions and the degree of development of the associated cortices, but their efficiency depends on the patterns of cytoarchitectural organisation. Specialised areas can be distinguished in the neocortex and in the thalamus. Portions of the pa...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2005-01-15 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
abstract：INTRODUCTION:Between 5 and 48% of the patients with Behçet s disease have neurological abnormalities. In children, meningoencephalitis as an initial manifestation of the disease is not frequent. CASE REPORT:We present a four years old girl with a Behçet s disease. When she was six months of age, during an hospitalizat...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2002-08-01 00:00:00
abstract：:In the last years there is an increasing interest in the knowledge of vascular status in patients with acute stroke. Detection and localization of an artery occlusion is of great interest for an accurate prognosis and the selection of the most appropriate recanalizing therapy. Neurosonology is a useful diagnostic tool...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2013-01-01 00:00:00
