Abstract:
BACKGROUND:Rett syndrome (RS) is a severe neurodevelopmental X-linked dominant disorder caused by mutations in the MECP2 gene. PURPOSE:To search for point mutations on the MECP2 gene and to establish a correlation between the main point mutations found and the phenotype. METHOD:Clinical evaluation of 105 patients, following a standard protocol. Detection of point mutations on the MECP2 gene was performed on peripheral blood DNA by sequencing the coding region of the gene. RESULTS:Classical RS was seen in 68% of the patients. Pathogenic point mutations were found in 64.1% of all patients and in 70.42% of those with the classical phenotype. Four new sequence variations were found, and their nature suggests patogenicity. Genotype-phenotype correlations were performed. CONCLUSION:Detailed clinical descriptions and identification of the underlying genetic alterations of this Brazilian RS population add to our knowledge of genotype/phenotype correlations, guiding the implementation of mutation searching programs.
journal_name
Arq Neuropsiquiatrjournal_title
Arquivos de neuro-psiquiatriaauthors
Lima FT,Brunoni D,Schwartzman JS,Pozzi MC,Kok F,Juliano Y,Pereira Lda Vdoi
10.1590/s0004-282x2009000400001subject
Has Abstractpub_date
2009-09-01 00:00:00pages
577-84issue
3Aeissn
0004-282Xissn
1678-4227pii
S0004-282X2009000400001journal_volume
67pub_type
杂志文章abstract::When the apnea hypothesis turned to be an explanation for sudden infant death syndrome (SIDS) many authors tried to find if near-miss or apparent life-threatening events (ALTE) could be markers of SIDS. It was suggested that phasic REM activity is associated with increased respiratory neuron activity and prevents prol...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1997000200008
更新日期:1997-06-01 00:00:00
abstract::The authors present three cases where the involuntary, imotivated laughter was a distinct finding. The first patient was a 29-year-old engineer, who had had several bursts of neurologic deficits, either sensitive or motor, which recovered almost completely and was diagnosed as suffering from multiple sclerosis. During...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1985000100010
更新日期:1985-03-01 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:OBJECTIVES:The industrialization process and nervous system cancer (NSC) mortality in a urban region of Brazil. METHOD:From registries of the State System of Data Analysis Foundation (SEADE), 103 males deaths by NSC (ICD-9) in Baixada Santista (BS), from 1980 to 1993 were selected. Mortality ratios were calculated com...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2000000300003
更新日期:2000-06-01 00:00:00
abstract::The clinical and neurological study in four neonates infants with cerebral infarction are reported. The purpose of this study is to call attention for the clinical course, cranial ultrasound, computed tomography and laboratories tests, in order to evaluate the neurological sequelae. A careful evaluation has be taken i...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1999000100016
更新日期:1999-03-01 00:00:00
abstract::Digital EEG (DEEG) and quantitative EEG (QEEG) are recently developed tools present in many clinical situations. Besides showing didactic and research utility, they may also have a clinical role. Although a considerable amount of scientific literature has been published related to QEEG, many controversies still subsis...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章,评审
doi:10.1590/s0004-282x1999000100026
更新日期:1999-03-01 00:00:00
abstract::Chédiak-Higashi syndrome is a rare hematological disease characterized by increased fusion of cytoplasmatic granules. Neurological symptoms occur in approximately half of the patients. We describe the clinical, eletrophysiological, hematological and radiological findings in a girl who had Chédiak-Higashi syndrome and ...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1999000300024
更新日期:1999-06-01 00:00:00
abstract::A case of a 10-year-old patient with a benign congenital myopathy, suddenly aggravated because of an accentuated deficit in respiratory muscles is reported. The institution of assisted respiration at night allowed the patient to return to her daily activities. Examination of muscular biopsy with ultra-microscope permi...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1983000100008
更新日期:1983-03-01 00:00:00
abstract::Drug resistant epilepsy impairs patients' quality of life making social interaction more difficult. Surgical treatment is an option for seizure control in medically refractory patients. We evaluated pre-operative and post-operative quality of life using a standardized questionnaire based on the QOLIE-10. The questionn...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1999000100006
更新日期:1999-03-01 00:00:00
abstract:OBJECTIVE:To report a Brazilian series of spontaneous cervical arterial dissections, risk factors, warning symptoms, clinical manifestations, diagnostic tests, treatment and prognosis. METHOD:We performed the retrospective analysis of clinical and neuroradiological records (MRI, A-MRI and Angiography) of patients with...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2004000300021
更新日期:2004-06-01 00:00:00
abstract::Status Dystonicus (SD) is characterized by generalized muscle contractions in dystonic patients. We report 5 cases of SD, two of which in patients with dystonic cerebral palsy, one in a patient with primary segmental dystonia, one in a patient with Hallervorden-Spatz syndrome and one in a patient with Wilson's disease...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2005000100005
更新日期:2005-03-01 00:00:00
abstract::We studied the clinical records of 280 patients admitted to our Hospital between 1985 and 1988, with a positive Elisa test for HIV-related antibodies: 15.71% (44) of these patients exhibited clinical abnormalities related to disease of the CNS. In 6 (13.6%) patients the neurological complication was the first manifest...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1989000400002
更新日期:1989-12-01 00:00:00
abstract:OBJECTIVE:To contribute our experience with surgical treatment of patients with mesial temporal lobe epilepsy (mTLE) undergoing anterior temporal lobectomy (ATL) or selective amygdalohippocampectomy (SelAH). METHOD:This is a retrospective observational study. The sample included patients with medically refractory mTLE...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/0004-282X20150188
更新日期:2016-01-01 00:00:00
abstract:UNLABELLED:Cognitive assessment in advanced stages of Alzheimer's disease (AD) is limited by the imprecision of most instruments. OBJECTIVE:To determine objective cognitive responses in moderate and severe AD patients by way of the Severe Mini-Mental State Examination (SMMSE), and to correlate performances with Mini-M...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/0004-282x20140002
更新日期:2014-04-01 00:00:00
abstract:OBJECTIVE:Stroke often leads to abnormalities in muscle tone, posture, and motor control that may compromise voluntary motor function, thus affecting the motor control required for maintaining the synergy of both peripheral and respiratory muscles. To evaluate respiratory muscle strength, pulmonary function, trunk cont...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/0004-282X20190048
更新日期:2019-07-15 00:00:00
abstract::Between January 1989 and June 1996, 1,059 carpal tunnel syndrome hands (CTS) from 668 patients were studied. None had been previously operated and all had bilateral conduction studies; peripheral neuropathy was excluded. The patients were selected with sensory median/radial difference (MRD) > or = 1.0 ms that strongly...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1999000200008
更新日期:1999-06-01 00:00:00
abstract::Hypoxemia secondary to sleep apnea is commonly seen in patients with acromegaly, and this alteration apparently leads to considerable morbidity and mortality among such patients. With the objective of identifying hypoxemia based on clinical data, we conducted a cross-sectional study of 34 patients with acromegaly, all...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2007000200009
更新日期:2007-06-01 00:00:00
abstract:UNLABELLED:Topical treatments have gained popularity for general use as an adjunct to systemic drugs in neuropathic pain, but their use produces variable clinical results and local adverse events. OBJECTIVE:To evaluate the safety and analgesic effect of a formulation of liposomal capsaicin (LC) (0.025%) in patients wi...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章,随机对照试验
doi:10.1590/0004-282X20140232
更新日期:2015-03-01 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:OBJECTIVE:Because of the need for a standardized and accurate method for detecting multiple sclerosis (MS) inflammatory activity, different magnetic resonance (MR) acquisitions should be compared in order to choose the most sensitive sequence for clinical routine. To compare the sensitivity of a T1-weighted image to a ...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/0004-282X20190082
更新日期:2019-07-29 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::The authors present a retrospective review of 13 patients with the diagnostic of intracranial metastatic malignant melanoma. Their ages ranged from 28 to 84 years. The time interval from diagnosis of primary tumor to development of cerebral metastases ranged from 6 to 60 months. There was preoperative evidence of extr...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1997000200018
更新日期:1997-06-01 00:00:00
abstract::A case of calvarial meningeoma in a 42 year old female is reported. Arising from the inner table of the skull, it projected a extracranial mass without neurological simptomatology. The surgical procedure give good results. Some aspects of the literature and radiologics finds are commented. The infrequency of this path...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1982000200009
更新日期:1982-06-01 00:00:00
abstract::Hemimegalencephaly (HME) is a rare congenital brain malformation of unknown etiology. Patients with HME can present with an early onset epileptic syndrome which is often refractory to medical treatment and associated to impaired neurological development. Functional hemispherectomy (FH) has proven to be a valuable trea...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2004000600024
更新日期:2004-12-01 00:00:00
abstract::Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like episodes (MELAS) is a rare mitochondrial disorder. Diagnostic criteria for MELAS include typical manifestations of the disease: stroke-like episodes, encephalopathy, evidence of mitochondrial dysfunction (laboratorial or histological) and known m...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章,评审
doi:10.1590/0004-282X20150154
更新日期:2015-11-01 00:00:00
abstract::We reviewed the charts of 176 adult patients, admitted with a diagnosis of acute bacterial meningitis, in the Hospital Couto Maia, from January 1990 to December 1992. All the patients had community-acquired meningitis. In 120 patients we could identify the causative agent on Gram's staining and culture. The most commo...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1997000400012
更新日期:1997-09-01 00:00:00
abstract::Two cases of partial Klüver-Bucy syndrome developed after probable herpes simplex meningoencephalitis are reported. Clinical, pathological, diagnostic and therapeutic aspects of herpes simplex encephalitis and Klüver-Bucy syndrome are discussed. ...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1986000400008
更新日期:1986-12-01 00:00:00
abstract::We present our experience with 36 cases of nonfunctional pituitary adenomas. These tumors were divided into non reactive and inactive in agreement with the immunohistochemical study. They present with visual symptoms, mainly bitemporal hemianopsia; they were macroadenomas, either invasive or non invasive, in both grou...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2002000100021
更新日期:2002-03-01 00:00:00
abstract::The study is based on 371 cerebrospinal fluid (CSF) samples and 324 serum samples from 40 patients with neurocysticercosis (NC) submitted to treatment with praziquantel. The aim of the study is a critical evaluation on humoral immunity in CSF NC syndrome. The analysis of NC patients at diagnosis and in the follow-up p...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章,评审
doi:10.1590/s0004-282x1987000300006
更新日期:1987-09-01 00:00:00
abstract::Two cases of Sjögren-Larsson syndrome are reported. In analysing the clinical symptoms and laboratory data the authors established the diagnosis of this rare entity which has an autosomal recessive kind of inheritance. ...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1983000400006
更新日期:1983-12-01 00:00:00