Abstract：
:We present the association of a distrophinopathy with a case of facioscupulohumeral dystrophy in two individuals belonging to the same family. The discrepancy in the seric creatinphosphokinase (CPK) of the two patients together with certain clinical data suggests the possibility that it is a question of two different processes. This impression was confirmed later through dystrophine analysis and genetic examination techniques. This case drew attention to the vital need today to insist on a combination of genetic examinations and dystrophine analysis when diagnosing muscular dystrophies, thus avoiding mistakes derived from diagnostic assumptions made on the basis of antecedents in the family involving neuromuscular disorders and the consequences that this might have regarding vital prognosis and advice to the family. This is the first case of coincidental association of these two processes within one family that has so far come to our knowledge.
journal_name
Rev Neuroljournal_title
Revista de neurologiaauthors
Serrano PJ,García Pérez A,Vilches RM,Mínguez A,Hernández Ramos FJsubject
Has Abstractpub_date
1995-03-01 00:00:00pages
301-3issue
120eissn
0210-0010issn
1576-6578journal_volume
23pub_type
杂志文章abstract：AIMS:To review the fundamentals of occupational therapy (OT) and to present its possible contributions in the field of neurological rehabilitation. DEVELOPMENT:As its name suggests, OT is a form of treatment that makes use of occupations. Furthermore, occupation is a purpose itself, since OT seeks to adapt the individ...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2002-08-16 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: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：OBJECTIVE:Theories about consciousness are in an initial state of development. In the recent past, diverse theories have been proposed to explain the phenomenon of the consciousness using the Quantum Mechanics (QM) as a fundamental tool. Here, we criticize some of these theories in the light of the current knowledge in...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2002-07-01 00:00:00
abstract：:Visuospatial impairment has been frequently reported in Parkinson's disease (PD). We present the progressive distortion performance of the Rey-Osterrieth complex figure in parkinsonian patients at different stages of the disease (PD de novo, PD on long-term treatment, PD with phychosis and PD with dementia). ...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：1999-02-16 00:00:00
abstract：:Streptococcus pyogenes (or group A beta hemolytic streptococcus) is a pathogenic bacterium that can give rise to a range of invasive and autoimmune diseases, although it is more widely known as the cause of tonsillitis. It is particularly interesting to note that this germ only causes disease in humans. For many years...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2003-07-01 00:00:00
abstract：AIMS:The aim of this work was to study the cranial trepanations and deformations carried out by the ancient Paraca, Huari, Tiahuanaco and Inca cultures. To do so, we conducted a field study involving visits to archaeological remains and anthropological museums on the Andean plateau and the Peruvian coast. DEVELOPMENT:...
journal_title：Revista de neurologia
pub_type： 历史文章,杂志文章
doi：
更新日期：2004-04-16 00:00:00
abstract：OBJECTIVE:To evaluate the therapeutic response of West's syndrome (WS) associated with cerebral paralysis (CP) secondary to periventricular leucomalacia (PVL). MATERIAL AND METHODS:We made a retrospective analysis of the clinical histories of 10 patients with SW and CP secondary to periventricular leucomalacia. We stu...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：1997-09-01 00:00:00
abstract：INTRODUCTION:Technological advances have helped to lower the rate of infantile mortality and to raise the survival rate of preterm infants. Thus, studies need to be conducted in this segment of the population, while prematurity continues to be one of the risk factors for neuro-sensory-motor disorders. There is evidence...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2009-01-01 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:According to the 1981 International League Against Epilepsy classification, absence seizures are the paradigm of idiopathic generalised seizures of childhood. Although absences are mainly of an idiopathic origin, there are also symptomatic absences, which account for 10% of all cases of absences. It is tho...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2017-09-16 00:00:00
abstract：AIMS:The purpose of this work was to gather the information currently available about the content of nerve growth factor (NGF) in experimental models of neurodegeneration and in neurodegenerative diseases, including Alzheimer's, Parkinson's and Huntington's diseases, as well as to analyse how NGF content is affected by...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2004-05-16 00:00:00
abstract：INTRODUCTION:The development of scientific advances, constantly opening new frontiers of knowledge, leads to increasing complexity and specialization. DEVELOPMENT:The conflict between the never ending medical specialization and the opposite tendency, which is based mostly on economic grounds, prevents the acquisition ...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2002-08-01 00:00:00
abstract：INTRODUCTION:The ionic channels are complex glycoprotein structures, which cross the lipidic cellular membrane and allow the passage of electrically charged ions from one side of it to the other, thanks to the electrochemical gradient. A channelopathy is a disorder due to anomalous function of the ionic channels. DEVE...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2002-01-16 00:00:00
abstract：AIM:To evaluate the performance of patients with Alzheimer's disease (AD) in the mild-moderate stage in a verbal material abstraction task that involves interpreting the implicit meaning of proverbs and sayings. SUBJECTS AND METHODS:A qualitative-quantitative analysis was carried out of the performance of 30 patients ...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2009-12-01 00:00:00
abstract：INTRODUCTION:An appropriate localization of ictal onset zone in refractory temporal lobe epilepsy favors an adequate outcome associated with surgical treatment. When video-electroencephalogram (video-EEG) and magnetic resonance imaging do not provide accurate data to locate ictal onset zone, the use of subdural or deep...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2012-11-01 00:00:00
abstract：:Restoration of blood flow is necessary when treating brain ischemia. However, except in very early cases, this is insufficient to prevent the cascade of mediators of cell damage unleashed by ischemia which, on the other hand, is boosted by the deleterious effects of reperfusion. We therefore consider adequate treatmen...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：1996-02-01 00:00:00
abstract：INTRODUCTION:Lesions of the pyramidal system are characterized by their effects on qualitative aspects of movement. One of the features of pyramidal defects is the presence of associated movements or synkinesis. CLINICAL CASE:We present a case with residual associated electromyographic (EMG) response in a patient who ...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：1999-06-01 00:00:00
abstract：TITLE:Telemedicina en pediatría del neurodesarrollo durante la pandemia de COVID-19: experiencia en un hospital terciario. ...
journal_title：Revista de neurologia
pub_type： 信件
doi：10.33588/rn.7112.2020554
更新日期：2020-12-16 00:00:00
abstract：INTRODUCTION:Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal-dominant disorder of peripheral myelin characterized by episodes of recurrent mononeuropathies usually involving nerves at common sites of entrapment and compression. Additional features include evidence of a diffuse demyelinat...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2000-09-16 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：INTRODUCTION:It is necessary to know the degree of concordance of preoperative studies in temporal lobe epilepsy (TLE). AIM. To analyze the relative importance of different preoperative tests (vEEG, EEG, SPECT and MRI), the degree of agreement between them, and to develop a Bayesian probability model for diagnosis. PA...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2010-10-01 00:00:00
abstract：TITLE:Hematoma subdural cronico calcificado: cerebro blindado. : ...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2014-05-01 00:00:00
abstract：INTRODUCTION:Acute vascular lesions limited to the midbrain can yield varied disturbances of eye movements. They are more often infarcts than hemorrhages. CLINICAL CASE:We present the case of a 49 year old, non-hypertensive man who presented with sudden onset of bilateral up and down gaze palsy. CT defined a unilatera...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2000-02-16 00:00:00
abstract：INTRODUCTION:An important aim of neuropsychological assessment is to identify impairment in higher cognitive or intellectual, functioning. In order to achieve this task the assessment of premorbid intellectual ability becomes crucial. The estimation of premorbid cognitive functioning will allow us to assess level of co...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2004-03-01 00:00:00
abstract：OBJECTIVE:To standardize and to determine the structural validity of a conduct disorder self report questionnaire in adolescents. PATIENTS AND METHODS:One hundred ninety, 12 to 16 year old male participants from the different socioeconomic status were randomized selected from educational institutions of Medellin City,...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2000-06-16 00:00:00
abstract：INTRODUCTION AND MATERIAL:Nine brains belonging to early onset Alzheimer disease (E280A-PS1 mutation) affected individuals from Antioquia, Colombia, were analyzed by neuropathological standard techniques. All individuals were ascertained from genealogies descendents from a common ancestor that shows a dominant autosomi...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：1999-07-01 00:00:00
abstract：INTRODUCTION AND CLINICAL CASE:A 58-year-old hypertensive man presented with the sudden onset of quadriplegia and inability to protrude the tongue. Magnetic resonance imaging showed a bilateral medial medullary infarction associated with an abnormally dilated and partially occluded vertebral artery. CONCLUSION:This is...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：1998-09-01 00:00:00
abstract：OBJECTIVE:The object of this study to analyse and compare the efficacy of the classic language tasks (repetition, phonological fluency and lexical decision), for the purpose of identifying the dominant hemisphere for language by means of functional magnetic resonance. SUBJECTS AND METHODS:The three tasks were performa...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2002-07-16 00:00:00
abstract：OBJECTIVE:To investigate some immune component that could contribute to the pathogenesis of Alzheimer's disease associated with the E280A mutation of the presenilin-1 gene (PS-1). PATIENTS AND METHODS:Serum antibodies against both cardiolipin and beta-amyloid peptides (beta 1-40 and beta 1-42) were quantitated by mean...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：1999-12-16 00:00:00
