Abstract:
:Significant advances in the understanding and management of Duchenne muscular dystrophy (DMD) took place since international guidelines were published in 2010. Our objective was to provide an evidence-based national consensus statement for multidisciplinary care of DMD in Brazil. A combination of the Delphi technique with a systematic review of studies from 2010 to 2016 was employed to classify evidence levels and grade of recommendations. Our recommendations were divided in two parts. We present Part 1 here, where we describe the guideline methodology and overall disease concepts, and also provide recommendations on diagnosis, steroid therapy and new drug treatment perspectives for DMD. The main recommendations: 1) genetic testing in diagnostic suspicious cases should be the first line for diagnostic confirmation; 2) patients diagnosed with DMD should have steroids prescribed; 3) lack of published results for phase 3 clinical trials hinders, for now, the recommendation to use exon skipping or read-through agents.
journal_name
Arq Neuropsiquiatrjournal_title
Arquivos de neuro-psiquiatriaauthors
Araujo APQC,Carvalho AAS,Cavalcanti EBU,Saute JAM,Carvalho E,França MC Junior,Martinez ARM,Navarro MMM,Nucci A,Resende MBD,Gonçalves MVM,Gurgel-Giannetti J,Scola RH,Sobreira CFDR,Reed UC,Zanoteli Edoi
10.1590/0004-282x20170112subject
Has Abstractpub_date
2017-08-01 00:00:00pages
104-113issue
8eissn
0004-282Xissn
1678-4227pii
S0004-282X2017000800104journal_volume
75pub_type
杂志文章,实务指引abstract::The diagnosis of primary intracerebral hemorrhage (ICH) and subarachnoid hemorrhage (SAH) has become easier with the advent of modern imaging techniques. The incidence of ICH has declined, while SAH has remained relatively constant. The prognosis for both disorders remains dismal and the mortality rate is substantiall...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章,评审
doi:10.1590/s0004-282x1991000300001
更新日期:1991-09-01 00:00:00
abstract::This disease was described by McArdle as an inherited autosomal recessive affection characterized by glycogen storage with normal chain in the skeletal muscles, due to absence of myophosphorylase activity. Under a clinical aspect, excessive fatigability, cramps and myoglobinuria appear following physical exercise. A c...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1980000400012
更新日期:1980-12-01 00:00:00
abstract:BACKGROUND:Painful shoulder is considered the most common complication of hemiplegic/parethic (H/P) stroke patients. It is a negative factor for neuromotor recovery. PURPOSE:To study the effects of kinesiotherapy treatment on shoulder pain prevention, and as a secondary endpoints, to analyze muscle strength of H/P sho...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2003000500012
更新日期:2003-09-01 00:00:00
abstract::Functional imaging of brain electrical activity was performed in 25 chronic medicated schizophrenics and 40 controls, analyzing the classical frequency bands (delta, theta, alpha, and beta) of 19-channel EEG during resting state to identify brain regions with deviant activity of different functional significances, usi...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2003000500002
更新日期:2003-09-01 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:BACKGROUND:Intrathoracic meningocele is a rare pathology, almost always associated with neurofibromatosis type I and with a few cases related in the literature. In the majority of cases cysts are small or asymptomatic, and the surgery is indicated when big or symptomatic cysts are present. We report a case of giant int...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章,评审
doi:10.1590/s0004-282x2003000400029
更新日期:2003-09-01 00:00:00
abstract::Motor function, cognition, functional independence and quality of life have been described in myelomeningocele patients, but no study has investigated their relationships. We aimed to investigate the relationships between motor function, cognition, functional independence, quality of life, age, and lesion level in mye...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/0004-282X20170088
更新日期:2017-08-01 00:00:00
abstract::Sixty-three patients with dermatopolymyositis were evaluated from the clinical, laboratory and therapeutical aspects during a period of 15 years: 39 are women and 24 men. The mean age was 36.8 +/- 15.6 years. No correlation was observed between clinical and isolated therapeutics employed; when corticosteroids and cyto...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1987000200006
更新日期:1987-06-01 00:00:00
abstract:OBJECTIVE:To assess the functional capacity and to determine the difference between the means of functional capacity (basic and instrumental activities of daily living) and the age groups of elderly residents in an outlying area in the hinterland of Bahia/Northeast of Brazil. METHOD:Analytical study with cross-section...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2010000100009
更新日期:2010-02-01 00:00:00
abstract::Moyamoya is a chronic progressive cerebrovascular disease with characteristic angiographic findings and a clinical picture with episodes of transient ischemic attacks, headache, seizures, hemiparesis, which may resolve after surgical treatment. We describe the case of a girl with the typical findings of the disease, c...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1999000600024
更新日期:1999-12-01 00:00:00
abstract::The authors review papers and researches about skull growth in newborns and infants: they analysed and correlated anthropometric data with maternal biological and social factors. ...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章,评审
doi:10.1590/s0004-282x1989000400004
更新日期:1989-12-01 00:00:00
abstract::Sleep and epilepsy share some common mechanisms. The objective of the present investigation was to study the macrostructure of sleep in patients with idiopathic epilepsies, focal and generalized, comparing these two groups to each other and to a control group of 12 individuals without epilepsy. A total of 35 polysomno...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2002000300002
更新日期:2002-06-01 00:00:00
abstract::With the objective to show the characteristics of neurocysticercosis (NCC) in Brazil, was performed a critical analysis of national literature which showed a frequency of 1.5% in autopsies and 3.0% in clinical studies, corresponding to 0.3% of all admissions in general hospitals. In seroepidemiological studies the pos...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章,meta分析
doi:10.1590/s0004-282x2003000500022
更新日期:2003-09-01 00:00:00
abstract:UNLABELLED:The aim of this study was to compare qualitative visual analysis with semi-quantitative analysis in the diagnosis of mesial temporal sclerosis (MTS) using FDG-PET. METHODS:This study included 21 patients with histopathological confirmation of MTS. FDG-PET visual analysis data were based on clinical reports ...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2001000600007
更新日期:2001-12-01 00:00:00
abstract::Social-economic factors influence sleep habits. This research analyzes characteristics of nocturnal sleep in Brazilian Native Terena adults. Sixty-four adults (31 M; 33 F) from 18 to 75 years, with a mean age of 37.0, from the Indian Reservation village of Córrego do Meio, in the central region of Mato Grosso do Sul, ...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2000000200005
更新日期:2000-06-01 00:00:00
abstract:BACKGROUND:Migraine is a prevalent neurological disorder. Although prevention is the mainstream treatment, some patients are refractory to standard therapies. AIM:To evaluate the use of quetiapine (QTP) in the preventive treatment of refractory migraine, defined as previous unresponsiveness to the combination atenolol...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2008000500002
更新日期:2008-09-01 00:00:00
abstract::The case of a 60 year-old man who had an indifferenciated carcinoma in the lung is reported. He had received cobaltotherapy and had improved. After 3 months a lumbar pain had began and the patient was hospitalized. A myelography with lipiodol demonstrated and intra-dural mass. At operation a big intra-dural tumor incl...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1976000300010
更新日期:1976-09-01 00:00:00
abstract:OBJECTIVE:To establish whether vascular aphasic syndromes can predict stroke outcomes. METHOD:Thirty-seven adults were evaluated for speech and language within 72 hours after a single first-ever ischemic brain lesion, in blind association to CT and/or MR. RESULTS:Speech or language disabilities were found in seven (8...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2011000300002
更新日期:2011-01-01 00:00:00
abstract::The relationship between depression and epilepsy has been known since ancient times, however, to date, it is not fully understood. The prevalence of psychiatric disorders in persons with epilepsy is high compared to general population. It is assumed that the rate of depression ranges from 20 to 55% in patients with re...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章,评审
doi:10.1590/s0004-282x2013000300011
更新日期:2013-03-01 00:00:00
abstract::A patient is described in whom a profound and rapidly progressive dementia occurred in association with clinical features of amyotrophic lateral sclerosis. A magnetic resonance imaging showed signs of frontal and especially left temporal atrophy. The pattern of dementia indicated impaired frontotemporal lobe functions...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1999000200018
更新日期:1999-06-01 00:00:00
abstract::Idiopathic generalized epilepsy (IGE) is often not recognized with serious consequences on the sufferers. We examined factors contributing to the missed diagnosis of IGE in 41 adults attending our epilepsy clinic with diagnosis of partial epilepsy who had semiology or EEG findings suggesting a possible differential di...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:
更新日期:2002-09-01 00:00:00
abstract::Serum samples were analysed for interleukin-2 receptors levels (sIL-2R) in 26 patients with definite multiple sclerosis as defined by Poser and col. Three groups of patients form the basis of this study: group I, with 14 patients with clinical evidence of active disease; group II, with 12 patients with clinically stab...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1994000200011
更新日期:1994-06-01 00:00:00
abstract:OBJECTIVE:To study the HLA of class 1and 2 in a multiple sclerosis (MS) population to verify the susceptibility for the disease in the Southern Brazil. METHODS:We analyzed patients with MS and controls, by direct sequencing of the genes related to HLA DRB1, DQB1, DPB1, A, B and C alleles with high resolution technique...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/0004-282X20160100
更新日期:2016-08-01 00:00:00
abstract::Neurocysticercosis (NC) is an endemic condition in several areas of Brazil. It is most likely the major responsible for the high prevalence of epilepsy in our country, estimated in 1-2% of general population. We performed a study to evaluate NC as aetiology of epilepsy in the west of Santa Catarina. This state belong ...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1998000100008
更新日期:1998-03-01 00:00:00
abstract::The pathogenesis of spontaneous cervical artery dissection remains unknown. Infection-mediated damage of the arterial wall may be an important triggering mechanism. We describe a 21 year-old man with respiratory infection (bronchial pneumonia) which was diagnosed and treated with antibiotic few days prior to the right...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2005000300029
更新日期:2005-06-01 00:00:00
abstract::The authors present a case of acute subdural haematoma evacuated in the presence of a coagulopathy. Some elements necessary for the understanding of the etiopathogenesis of the disease are discussed. ...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1985000300009
更新日期:1985-09-01 00:00:00
abstract::The spinal trauma related to civilian gunshot missile still remains a serious neurological event that carries a dismal prognosis almost in all cases. Its surgical indication also is a matter of discussion. Our goal is to identify the aspects that could influence the prognosis after surgery to this kind of lesions. We ...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1999000500016
更新日期:1999-09-01 00:00:00
abstract::Tests evaluating the attentional-executive system are widely used in clinical practice. However, proximity of an objective cognitive test with real-world situations (ecological validity) is not frequently investigated. The present study evaluate the association between measures of the Five Digit Test (FDT) and the Ora...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/0004-282X20150184
更新日期:2016-01-01 00:00:00
abstract::The choline/N-acetyl-aspartate (Cho/NAA) ratio, obtained by the multivoxel spectroscopy with short echo time (TE), was evaluated, in the histological grading of the brain astrocytomas (grades I, II and III-IV) in comparison with the normal cerebral parenchyma. A significant increase (p<0.05) in the average ratios of C...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2007000200019
更新日期:2007-06-01 00:00:00
abstract:AIM:To evaluate smell recognition in pervasive developmental disorders (PDD). METHOD:Twenty-one PDD (experimental group) and 21 matched controls (control group) male adolescents were submitted to a standardized, 12-stimuli, smell battery in three moments: with no identification suggestion; associated to four linguisti...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2007000700021
更新日期:2007-12-01 00:00:00