Abstract:
:Four aspects of advances in inborn errors of metabolism (IEM) are analysed: 1) concerning the general comprehension of the pathogenesis, genic localization and genetic heterogeneity; 2) clinical aspects, with description of new variants of known IEM or new IEM; 3) laboratory diagnostic tests presently used in our country: dosage of some genetic markers (arylsulfatases, hexosaminidases, beta-glycosidase; beta-galactosidase and sphingomyelinase), newborn populational screening (for hyperphenylalaninemia, and hypothyroidism), heterozygote detection (for Tay-Sachs disease) and also some prenatal diagnosis; 4) therapeutic aspects presenting substitutive treatment, special diets, plasmapheresis and leukapheresis. The first results of 4 cases of mucopolysaccharidosis treated with the last technic are presented.
journal_name
Arq Neuropsiquiatrjournal_title
Arquivos de neuro-psiquiatriaauthors
Diament AJdoi
10.1590/s0004-282x1987000200011subject
Has Abstractpub_date
1987-06-01 00:00:00pages
177-87issue
2eissn
0004-282Xissn
1678-4227journal_volume
45pub_type
杂志文章,评审abstract:OBJECTIVE:To investigate the correlation between cardiorespiratory fitness and mood state in individuals with temporal lobe epilepsy (TLE). METHOD:Individuals with TLE (n = 20) and healthy control subjects (C, n = 20) were evaluated. Self-rating questionnaires were used to assess mood (POMS) and habitual physical acti...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/0004-282X20140188
更新日期:2015-01-01 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::Complex and mixed atypical absences and tonic epileptic seizures of 12 patients with the Lennox-Gastaut syndrome with onset after age 6 were studied. By complexes seizures we mean the associations of two elementary epileptics phenomena and by mixed that of three or more. Complex and mixed epileptic seizures already re...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1982000400002
更新日期:1982-12-01 00:00:00
abstract:OBJECTIVE:To identify in mild head injured children the major differences between those with a Glasgow Coma Scale (GCS) 15 and GCS 13/14. METHOD:Cross-sectional study accomplished through information derived from medical records of mild head injured children presented in the emergency room of a Pediatric Trauma Centre...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2010000300010
更新日期:2010-06-01 00:00:00
abstract::A case of a 29-year-old male with a huge sacrococcygeal teratoma completely removed by surgery, and associated with a sacral agenesis is reported. Roentgenograms revealed fusion of the T12, L1, L2, and L3 vertebral bodies, absence of the left 12th rib, partial agenesis of sacrococcygeal elements and a lumbar scoliosis...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1987000100011
更新日期:1987-03-01 00:00:00
abstract::Twenty one cases of schistosomal meningomyeloradiculopathy due to Schistosoma mansoni are reported. This result was attained after a 4- year research period based on a "Clinical and Laboratory Investigation Protocol" applied on 212 patients in Itabuna, a city of Southeast region of Bahia state in the Northeast of Braz...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1988000100009
更新日期:1988-03-01 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::We studied the clinical aspects of 100 consecutive premature newborns with and without intraventricular and periventricular hemorrhage (IPVH). The diagnosis of IPVH was obtained by ultrasonic scans of the skull during the first week of life and at the age of one month. Forty eight percent of newborns with IPVH had abn...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1999000300004
更新日期:1999-06-01 00:00:00
abstract:OBJECTIVE:Image guided stereotactic biopsy (SB) provides cerebral tissue samples for histological analysis from minimal lesions or those that are located in deep regions, being crucial in the elaboration of therapeutic strategies, as well as the prevention of unnecessary neurosurgical interventions. METHOD:Sixty patie...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2009000600019
更新日期:2009-12-01 00:00:00
abstract::The involvement of the central nervous system in paracoccidioidomycosis is more frequent than previously thought. The first reference to the possibility that Paracoccidioides brasiliensis could affect the central nervous system was by Pereira & Jacobs in 1919. Since then, a great number of other studies has showed thi...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2000000400024
更新日期:2000-09-01 00:00:00
abstract::To study the reasons for referral to electrodiagnostic evaluation, 490 patients referred for electrodiagnostic evaluation to two laboratories (UNIFESP and UNEF) answered the following question: "What was the reason that brought you to look for a physician and that led him to ask this examination?" Paresthesia and/or p...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2003000100010
更新日期:2003-03-01 00:00:00
abstract:OBJECTIVE:To verify the auditory selective attention in children with stroke. METHODS:Dichotic tests of binaural separation (non-verbal and consonant-vowel) and binaural integration - digits and Staggered Spondaic Words Test (SSW) - were applied in 13 children (7 boys), from 7 to 16 years, with unilateral stroke confi...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2012005000018
更新日期:2013-01-01 00:00:00
abstract:UNLABELLED:The temporal branch of the facial nerve is particularly vulnerable to traumatic injuries during surgical procedures. It may also be affected in clinical conditions. Electrodiagnostic studies may add additional information about the type and severity of injuries, thus allowing prognostic inferences. The objec...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2010000400026
更新日期:2010-08-01 00:00:00
abstract:OBJECTIVE:Investigate the auditory pathway in the brainstem of children with acute lymphoblastic leukemia submitted to chemotherapy (by intravenous or intrathecal infusion). METHODS:Fourteen children aged between 2 and 12 years with diagnosis of acute lymphoid leukemia were evaluated. The following procedures were use...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/0004-282X20190139
更新日期:2020-02-01 00:00:00
abstract::A 38 year-old man presented fever and a clinical picture of intracranial hypertension and ataxic syndrome. A CT-scan disclosed an expanding lesion of the cerebellum. Surgical excision of the lesion was performed and pathological examination made the diagnosis of an actinomycotic abscess. The probable primary source of...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:
更新日期:1995-09-01 00:00:00
abstract:BACKGROUND:The novel coronavirus disease 2019 (COVID-19) pandemic poses a potential threat to patients with autoimmune disorders, including multiple sclerosis (MS) and neuromyelitis optica spectrum disorder (NMOSD). Such patients are usually treated with immunomodulatory or immunosuppressive agents, which may tamper wi...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/0004-282X20200056
更新日期:2020-07-01 00:00:00
abstract::Calf enlargement following sciatica is a rare condition. It is reported the case of a 28-year-old woman who complained of repeated episodes of lower back pain radiating into the left buttock and foot. One year after the beginning of her symptoms, she noticed enlargement of her left calf. X-ray studies disclosed L5-S1 ...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1992000300021
更新日期:1992-09-01 00:00:00
abstract::Febrile seizures (FS) affect almost 2-5% of children and factors related to an increase susceptibility of children to FS may involve an imbalance of inflammatory cytokines and genetic factors. FS had low morbidity, but may be associated with the occurrence of late chronic epilepsy. Here we describe factors related to ...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章,评审
doi:10.1590/s0004-282x2011000300022
更新日期:2011-01-01 00:00:00
abstract::Cervical carotid stenosis is one of the main causes of ischemic stroke. Carotid endarterectomy is a safe procedure for treatment of moderate and severe symptomatic and asymptomatic carotid stenosis. Regional anesthesia allows neurological evaluation of the patient during the surgery. We reviewed the results of 104 pat...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2004000400021
更新日期:2004-09-01 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:BACKGROUND:Primary headaches, and particularly migraine and tension-type headache (TTH) as well as hypothyroidism are common medical conditions. To date, numerous studies have suggested a possible bidirectional relationship between migraine and hypothyroidism, although certain studies had contradictory results. OBJECT...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/0004-282X20200070
更新日期:2020-11-01 00:00:00
abstract::Four cases of familial spastic paraplegia with amyotrophy in siblings from a consanguineous married are reported. The routine laboratory examination were normal. The electromiography and muscle biopsy processed by histochemistry showed signs of denervation with reinervation. The motor nerve conduction velocity was dec...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1979000200004
更新日期:1979-06-01 00:00:00
abstract::This study aimed to investigate in a population of Brazilian patients with multiple sclerosis (MS) single-nucleotide polymorphisms (SNP) in the promoter region of IL4 (*33C-T) and receptor IL4R (*Q551R A-G) genes proposed to interfere with disease progression. No significant differences were observed in either of the ...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2007000100005
更新日期:2007-03-01 00:00:00
abstract::The most important methods and results found in literature on immunoglobulins of the normal cerebrospinal fluid (CSF) are reviewed. A study was made of immunoglobulins in the CSF of 50 individuals who suffered from chronic migraine but showed normal results for the physical and neurological examinations; electroenceph...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章,评审
doi:10.1590/s0004-282x1979000300002
更新日期:1979-09-01 00:00:00
abstract::Prevalence rates of multiple sclerosis (MS) suggest an interrelationship between genetic and environmental factors, ranging worldwide.Objectives Clinical and epidemiological characterization of MS patients in João Pessoa, Paraíba city.Methods Study involving patients treated in five services in the city.Results It inc...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/0004-282X20150111
更新日期:2015-09-01 00:00:00
abstract::Many studies have suggested that caring for patients with dementia may be associated with increased burden, particularly when subjects present with prominent behavioural problems. The present work aimed to review studies appearing on MedLine between 1990 and January 1998 that included the following keywords: 'burden o...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章,评审
doi:10.1590/s0004-282x1999000300014
更新日期:1999-06-01 00:00:00
abstract:UNLABELLED:West syndrome (WS) is a severe epileptic encephalopathy of childhood, characterized by spasms, developmental deterioration and hipsarhythymia. OBJECTIVE:To evaluate the safety and efficacy of vigabatrin (VGB) in the treatment of WS. METHOD:We evaluated every patient diagnosed with WS seen at the pediatric ...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2005000300019
更新日期:2005-06-01 00:00:00
abstract:BACKGROUND:Rheumatic chorea (RC) has recently been linked to an antibody-mediated immune mechanism. OBJECTIVE/METHOD:To verify if this knowledge reflected in management changes we conceived a descriptive study. RESULTS:The medical charts of 20 children (13 females) aged 6 to 12 years (mean 8 years), diagnosed as RC f...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:
更新日期:2002-06-01 00:00:00
abstract::More than 80 years after its introduction by Hans Berger, the electroencephalogram (EEG) remains as an important supplementary examination in the investigation of neurological disorders and gives valuable and accurate information about cerebral function. Abnormal EEG findings may include ictal patterns, interictal epi...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章,评审
doi:10.1590/s0004-282x2011000600020
更新日期:2011-10-01 00:00:00
abstract::Classifications for neurological disorders have evolved from following the theory of the humors to modern anatomical pathology and, recently, to the germ theory that stared the etiological era, as seen in book content lists. The symptomatic approach towards neuronosology was widely used until the middle of the 19(th) ...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 历史文章,杂志文章
doi:10.1590/s0004-282x2011000400028
更新日期:2011-06-01 00:00:00