Abstract:
:We report the case of a child with myotonic dystrophy (DM) with symptoms beginning at the age of seven, whose genetic study showed an additional DNA fragment, greater than of his father, an asymptomatic carrier. The clinical and molecular analysis of this parent-child pair are probably the first described in Brazil, since the recent discovery of genetic abnormality in DM by American and European researchers, that explained the long-debated phenomenon of "anticipation" in this disease. The main advances in molecular genetics in DM and its correlation with increasing severity and earlier onset of the symptoms in successive generations of a family are commented briefly.
journal_name
Arq Neuropsiquiatrjournal_title
Arquivos de neuro-psiquiatriaauthors
Reed UC,Passos-Bueno MR,Nagahashi-Marie SK,Cerqueira A,Mendonça LI,Levy JA,Diament A,Zatz Mdoi
10.1590/s0004-282x1994000400015subject
Has Abstractpub_date
1994-12-01 00:00:00pages
545-8issue
4eissn
0004-282Xissn
1678-4227journal_volume
52pub_type
杂志文章abstract::The pterional craniotomy is one of the most frequently surgical approaches used in neurosurgery and currently it has become a mainsteam. It allows excellent microsurgical exposure of anterior and posterior regions of the arterial circle of Willis, supra and paraselar regions, the superior orbital fissure of sphenoid b...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章,评审
doi:10.1590/s0004-282x2010000300020
更新日期:2010-06-01 00:00:00
abstract:OBJECTIVE:This study aimed to analyze the frequency of GSTP1-Alw26I polymorphism and to estimate its association with toxic substances in Parkinson's disease (PD). METHODS:A study group with 154 patients - subdivided into familial and sporadic PD groups - and 158 elderly individuals without the disease (control group)...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/0004-282X20130060
更新日期:2013-07-01 00:00:00
abstract::The appearance of unilateral papilledema in the fundus photos of 6 women with pseudotumor cerebri is presented. Associated findings included obesity in 5 and a partially empty sella in 2. The possible explanations for the development of unilateral papilledema in pseudotumor cerebri are reviewed and favor a mechanism t...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1985000200005
更新日期:1985-06-01 00:00:00
abstract::The study aimed to find out how frequent is brain tissue aspiration and if brain tissue heterotopia could be found in the lung of human neural tube defect cases. Histological sections of each lobe of both lungs of 22 fetuses and newborn with neural tube defect were immunostained for glial fibrillary acidic protein (GF...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2005000400011
更新日期:2005-09-01 00:00:00
abstract:OBJECTIVE:To verify differences in the visual scanning strategies between pervasive developmental disorders (PDD) and controls when they are observing social and non-social pictures. METHOD:PDD group (PDDG) comprised by 10 non-retarded subjects (age from 4 to 41) and age-matched control group (CG). Nine social picture...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2006000400003
更新日期:2006-09-01 00:00:00
abstract:AIM:To assess the association between child growth and teacher-reported behavior and academic standing, and neuropsychological performance. METHOD:The heights of 344 public-school children were measured using standard procedures. Teachers were requested to complete two behavioral and one academic performance rating sc...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2004000600004
更新日期:2004-12-01 00:00:00
abstract::The many kinds of complication that have been observed following operations of basilar impression and/or malformation of Arnold-Chiari are analysed. Two surgical techniques were adopted in the treatment of the patients. In the first 64 cases, the operation consisted in the craniectomy of the posterior fossa and high c...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:
更新日期:1981-09-01 00:00:00
abstract::The authors report the clinical and angiographical findings of two cases of familial hemifacial spasm. This is the fifth description in the literature and presents mother and daughter at the ages of 76 and 51 respectively, in whom the left side was affected. They underwent exams of angioresonance that showed dolichoba...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1998000100018
更新日期:1998-03-01 00:00:00
abstract:INTRODUCTION:The association between memory loss and Hodgkin's lymphoma has been given the eponym of Ophelia syndrome, in memory of Shakespeare's character in The Tragedy of Hamlet, Prince of Denmark. Nevertheless, there are differences between the disease and the character. OBJECTIVE:To review the origins and uses of...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 传,历史文章,杂志文章
doi:10.1590/0004-282X20190105
更新日期:2019-11-01 00:00:00
abstract:BACKGROUND:Transcranial direct current stimulation (tDCS) has been investigated in movement disorders, making it a therapeutic alternative in clinical settings. However, there is still no consensus on the most appropriate treatment protocols in most cases, and the presence of deep brain stimulation (DBS) electrodes has...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/0004-282X20190019
更新日期:2019-03-01 00:00:00
abstract::The post-polio syndrome (PPS) is an entity characterized for an episode of muscular weakness and/or abnormal muscular fatigue in individuals that had presented acute polio years before. We report the case of PPS in a patient, 40 years, that thirty-five years after had had paralytic poliomyelitis, developed new symptom...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2007000300033
更新日期:2007-06-01 00:00:00
abstract::Tourette syndrome (TS) is a neuropsychiatric disorder characterized by a combination of multiple motor tics and at least one phonic tic. TS patients often have associated behavioral abnormalities such as obsessive compulsive disorder, attention deficit and hyperactive disorder. Coprolalia, defined as emission of obsce...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2001000400019
更新日期:2001-09-01 00:00:00
abstract::Lipoma of the cerebellopontine angle is a very rare tumor. We report the case of a 14-years-old female, with left side deafness during three years, associated with headache. CT scan showed an hypodense mass, without enhancement at the cerebellopontine angle. The patient was treated surgically by left retrosigmoid appr...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章,评审
doi:10.1590/s0004-282x2000000500028
更新日期:2000-09-01 00:00:00
abstract::Désiré-Magloire Bourneville ought to be thought of as the father of Pediatric Neurology for his significant contributions to the field. He worked as a physician, politician, writer, and editor. He was the first to describe the autosomal dominant genetic condition known as "tuberous sclerosis complex", after conducting...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 传,历史文章,杂志文章
doi:10.1590/0004-282X20190009
更新日期:2019-05-13 00:00:00
abstract::Craniospinal radiation therapy for treatment of brain tumors may result in growth hormone (GH) insufficiency with resultant linear growth retardation, one of the most common complications. We report the case of a 10-year-old boy presenting headache associated to vertigo, nausea and vomiting. A CT scan showed an homoge...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2003000300030
更新日期:2003-06-01 00:00:00
abstract:OBJECTIVE:the aim of this report is to warn that sodium valproate used during pregnancy can produce craniosynostosis in the newborn, particularly trigonocephaly. METHOD:we describe a case of trigonocephaly in a six month-old girl, daughter of a young non-smoker couple, whose mother had used phenobarbital 100 mg daily ...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:
更新日期:2001-06-01 00:00:00
abstract:OBJECTIVE:To determine frequency, etiology, site and clinical and laboratory findings of ventriculoperitoneal shunt (VPS) infections in children and adolescents with hydrocephalus managed in Hospital Governador João Alves Filho, Aracaju SE, Brazil. METHOD:A non-controlled prospective observational study comprising 50 ...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2007000100024
更新日期:2007-03-01 00:00:00
abstract:OBJECTIVE:To study the brain areas which are activated when normal subjects make moral judgments. METHOD:Ten normal adults underwent BOLD functional magnetic resonance imaging (fMRI) during the auditory presentation of sentences that they were instructed to silently judge as either "right" or "wrong". Half of the sent...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2001000500001
更新日期:2001-09-01 00:00:00
abstract::A new anti-epileptic agent (barbexaclone) was tried in 48 patients suffering from epilepsy and presenting a total of 67 types of crises. All the patients were considered "bad cases" because either by the intensity of the epileptic manifestations or by their refractoriness to the usual medications. The results, similar...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1977000300012
更新日期:1977-09-01 00:00:00
abstract::Thromboembolism is the most frequent complication in endovascular treatment of intracranial aneurysms, causing disability and death. As stent retrievers have achieved high rates of arterial recanalization in the management of ischemic stroke, these devices were tested as rescue therapy of thromboembolism during aneury...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/0004-282X20180027
更新日期:2018-05-01 00:00:00
abstract::There is evidence in electroencephalography that alpha, theta and delta band oscillations reflect cognitive and memory performances and that quantitative techniques can improve the electroencephalogram (EEG) sensitivity. This paper presents the results of comparative analysis of qEEG variables as reliable markers for ...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2011000700004
更新日期:2011-12-01 00:00:00
abstract::Alternative surgical procedures to treat unclippable aneurysms of the intracavernous carotid artery include proximal vessel occlusion and trapping. Those techniques, even in patients with rich collateral vessels, are associated with risk of hemodynamic compromise and ischemic complications. Therefore, a safe treatment...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2001000100030
更新日期:2001-03-01 00:00:00
abstract::Spinal extradural meningeal cysts are typically formed by a thin fibrotic membranous capsule, macroscopically similar that of an arachnoid membrane, filled by cerebro spinal fluid and related to a nerve root or to the posterior midline. Ventral location is extremely rare and when it occurs they usually cause spinal co...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2005000500026
更新日期:2005-09-01 00:00:00
abstract:OBJECTIVE:To translate into Brazilian Portuguese the Autism Diagnostic Interview-Revised (ADI-R), an extremely useful diagnostic tool in autism. METHODS:A case-control study was done to validate the ADI-R. After being translated, the interview was applied in a sample of 20 patients with autism and 20 patients with int...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2012000300006
更新日期:2012-03-01 00:00:00
abstract::Pulmonary involvement in HTLV-I patients has been identified by several authors in Africa, Japan and Brazil. The objective of this controlled study is to establish an association between HAM and lymphocytosis in the bronchoalveolar fluid (BAL). Thirty-five adult patients with non-traumatic and non-tumoral myelopathy f...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1995000500009
更新日期:1995-12-01 00:00:00
abstract::A case of endolymphatic sac adenocarcinoma is reported and the literature is reviewed. The clinical picture was presented by vertigo and progressive hearing loss caused by a tumor of the endolymphatic sac. The surgical removal was complete, via a retro and translabyrinthine approach. Endolymphatic sac tumors are local...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章,评审
doi:
更新日期:2002-09-01 00:00:00
abstract:OBJECTIVE:To investigate the potential relationship between the human leukocyte antigen (HLA) type (class I and II) and the response to several disease-modifying therapies (DMTs) in patients with multiple sclerosis (MS). METHODS:We analyzed clinical data of 87 patients with MS at the beginning and end of each type of ...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/0004-282X20180103
更新日期:2018-10-01 00:00:00
abstract::Four cases of the oedematous form of neurocysticercosis are reported. This form is relatively rare and characterized by symptoms of intracranial hypertension and severe bilateral papilledema. Focal convulsive disorders are common. CSF studies show positive reaction for cysticercosis and ventriculography, the presence ...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1981000400009
更新日期:1981-12-01 00:00:00
abstract::Alzheimer disease (AD) is usually associated with cognitive, language and behavioral impairments, which can get more and more serious as the disease progresses. The aim of this study is to verify language disorders in the early stages of this disease. Twelve patients meeting criteria for problable AD were evaluated by...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2005000200020
更新日期:2005-06-01 00:00:00
abstract::Thalamic hand is one of the clinical expressions of the painful thalamic syndrome. This paper relates on a case of a patient with a syndrome of central post-stroke and supra-thalamic pain who also presents a thalamic hand. The authors emphasize the notion that in the syndrome of central post-stroke pain a direct or in...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1992000100021
更新日期:1992-03-01 00:00:00