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X-Linked Adrenoleukodystrophy: A Heterogeneous Peroxisomal Disorder you Should Not Miss x连锁肾上腺白质营养不良:你不应该错过的异质性过氧化物酶体疾病
Sinapse Pub Date : 2023-01-01 DOI: 10.46531/sinapse/cc/220057/2022
Pedro Lopes das Neves
{"title":"X-Linked Adrenoleukodystrophy: A Heterogeneous Peroxisomal Disorder you Should Not Miss","authors":"Pedro Lopes das Neves","doi":"10.46531/sinapse/cc/220057/2022","DOIUrl":"https://doi.org/10.46531/sinapse/cc/220057/2022","url":null,"abstract":"","PeriodicalId":53695,"journal":{"name":"Sinapse","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70557933","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Transplante Autólogo de Células-Tronco Hematopoiéticas no Tratamento da Esclerose Múltipla: Começo de uma Nova Era? 造血干细胞自体移植治疗多发性硬化症:新时代的开始?
Sinapse Pub Date : 2023-01-01 DOI: 10.46531/sinapse/ar/220018/2023
Marcos André Gonçalves
{"title":"Transplante Autólogo de Células-Tronco Hematopoiéticas no Tratamento da Esclerose Múltipla: Começo de uma Nova Era?","authors":"Marcos André Gonçalves","doi":"10.46531/sinapse/ar/220018/2023","DOIUrl":"https://doi.org/10.46531/sinapse/ar/220018/2023","url":null,"abstract":"","PeriodicalId":53695,"journal":{"name":"Sinapse","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70558033","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A Look into Familial Hemiplegic Migraine 家族性偏瘫性偏头痛的研究
Sinapse Pub Date : 2023-01-01 DOI: 10.46531/sinapse/in/220058/2022
José Sá Silva
{"title":"A Look into Familial Hemiplegic Migraine","authors":"José Sá Silva","doi":"10.46531/sinapse/in/220058/2022","DOIUrl":"https://doi.org/10.46531/sinapse/in/220058/2022","url":null,"abstract":"","PeriodicalId":53695,"journal":{"name":"Sinapse","volume":"35 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70558421","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Is it Guillain-Barré Syndrome with Extense Leptomenigeal Enhancement? 是伴有广泛性脑电图增强的格林-巴勒综合征吗?
Sinapse Pub Date : 2023-01-01 DOI: 10.46531/sinapse/in/220064/2022
Teresa Botelho
{"title":"Is it Guillain-Barré Syndrome with Extense Leptomenigeal Enhancement?","authors":"Teresa Botelho","doi":"10.46531/sinapse/in/220064/2022","DOIUrl":"https://doi.org/10.46531/sinapse/in/220064/2022","url":null,"abstract":"184 Guillain-Barré syndrome (GBS), an acute immune-mediated polyneuropathy characterized by progressive ascending weakness and areflexia,1 occurs in both adult and pediatric populations, but is uncommon in children less than two years of age.1 Cerebrospinal fluid with albumincytological dissociation is a typical feature in GBS, and also a root enhancement may be seen on spinal cord images, obtained by magnetic resonance imaging (MRI).2 We report a case of a 5-months-old healthy infant, admitted to the Emergency Department in 2018, with decreased spontaneous movements of lower limbs, particularly in the left one, with less than 24 hours of evolution. Four days before, she had had a fever, associated with cough and rhinorrhea, without any causal agent having been identified (syncytial respiratory virus, influenza and adenovirus were tested), in a previous observation carried out in another hospital. Clinical examination showed a left lower limb paralysis, without pain on mobilization or inflammatory signs, and myotatic hyporeflexia in both lower limbs, being even more marked on the left. Based on the hypothesis of post-infectious radiculitis, a 1.5 Tesla MRI was performed under sedation (using a low dose of intravenous propofol and dexmedetomidine, maintaining spontaneous breathing), which showed diffuse leptomenigeal enhancement involving the entire height of the cord, surpassing the posterior fossa superiorly, until the cauda equina roots, which were thickened and enhancing after gadolinium administration (Figs. 1 and 2). Lumbar Informações/Informations: Imagem em Neurologia, publicado em Sinapse, Volume 22, Número 4, outubrodezembro 2022. Versão eletrónica em www.sinapse.pt; Image in Neurology, published in Sinapse, Volume 22, Number 4, October-December 2022. Electronic version in www.sinapse.pt © Autor (es) (ou seu (s) empregador (es)) e Sinapse 2022. Reutilização permitida de acordo com CC BY-NC. Nenhuma reutilização comercial. © Author(s) (or their employer(s)) and Sinapse 2022. Re-use permitted under CC BYNC. No commercial re-use.","PeriodicalId":53695,"journal":{"name":"Sinapse","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70558495","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Efeitos do Fortalecimento do Membro Superior, no Equilíbrio e na Marcha, em Idosos Pós-Acidente Vascular Cerebral: Revisão Sistemática 老年中风后上肢加强对平衡和步态的影响:系统综述
Sinapse Pub Date : 2023-01-01 DOI: 10.46531/sinapse/rs/220055/2023
V. Figueiredo
{"title":"Efeitos do Fortalecimento do Membro Superior, no Equilíbrio e na Marcha, em Idosos Pós-Acidente Vascular Cerebral: Revisão Sistemática","authors":"V. Figueiredo","doi":"10.46531/sinapse/rs/220055/2023","DOIUrl":"https://doi.org/10.46531/sinapse/rs/220055/2023","url":null,"abstract":"","PeriodicalId":53695,"journal":{"name":"Sinapse","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70558680","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The Wearing-Off of OnabotulinumtoxinA in Patients with Chronic Migraine: Experience of a Tertiary Portuguese Centre 慢性偏头痛患者的肉毒杆菌毒素的消退:葡萄牙三级中心的经验
Sinapse Pub Date : 2023-01-01 DOI: 10.46531/sinapse/ao/220079/2023
C. Fernandes
{"title":"The Wearing-Off of OnabotulinumtoxinA in Patients with Chronic Migraine: Experience of a Tertiary Portuguese Centre","authors":"C. Fernandes","doi":"10.46531/sinapse/ao/220079/2023","DOIUrl":"https://doi.org/10.46531/sinapse/ao/220079/2023","url":null,"abstract":"Introduction: The onabotulinumtoxinA (onabotA) is an injectable preventive treatment of chronic migraine (CM), administered in 12 week’s intervals. Some patients present a wearing-off (WO) effect in the last weeks before the next treatment. The aim of our study was to evaluate the WO phenomen in patients under onabotA treatment and to recognize possible predictive features of the phenomena. Methods: We designed a cross-sectional study and proceeded to demographic and clinical characterization of a group of patients, and evaluation of onabotA therapeutic response and adverse events. WO effect was defined as the loss of therapeutic effect, that consists of reduction equal or greater than 50% in the number of headache days, before the 12-week interval. Statistical testing was carried out using a level of significance of p <0.05. Results: We included 60 patients (95.1% female) with a mean age of 49.0±11.4 years. On average, before onaBotA treatment patients had around 15.0 attacks per month. In 45.3% we noticed a therapeutic response after the first treatment. The WO effect was noticed in 36 patients (66.7%) and the majority (50.9%) between the 10 th to 12 th week post treatment. Wearing-off was more reported by patients under 155 units PREEMPT protocol ( p =0.032). Conclusion: This study documents the high frequency of WO phenomen in patients with chronic migraine under onabotA. Therefore, the possibility of a different protocol in selected patients must be explore with larger observational and prospective studies as well as evaluation in clinical trials.","PeriodicalId":53695,"journal":{"name":"Sinapse","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70557863","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Neurologia e Aves 神经病学e Aves
Sinapse Pub Date : 2023-01-01 DOI: 10.46531/sinapse/ed/230018/2022
Luís Santos
{"title":"Neurologia e Aves","authors":"Luís Santos","doi":"10.46531/sinapse/ed/230018/2022","DOIUrl":"https://doi.org/10.46531/sinapse/ed/230018/2022","url":null,"abstract":"","PeriodicalId":53695,"journal":{"name":"Sinapse","volume":"144 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70558149","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Torcicolo Adquirido em Idade Pediátrica: Uma Manifestação Clínica com um Amplo Espetro de Gravidade 儿科获得性斜颈:一种严重程度广泛的临床表现
Sinapse Pub Date : 2023-01-01 DOI: 10.46531/sinapse/cc/220068/2023
Laura Correia
{"title":"Torcicolo Adquirido em Idade Pediátrica: Uma Manifestação Clínica com um Amplo Espetro de Gravidade","authors":"Laura Correia","doi":"10.46531/sinapse/cc/220068/2023","DOIUrl":"https://doi.org/10.46531/sinapse/cc/220068/2023","url":null,"abstract":"","PeriodicalId":53695,"journal":{"name":"Sinapse","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70558003","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Pelizaeus-Merzbacher Disease: A Rare Cause of Nystagmus and Developmental Delay Pelizaeus-Merzbacher病:眼球震颤和发育迟缓的罕见病因
Sinapse Pub Date : 2023-01-01 DOI: 10.46531/sinapse/cc/230012/2023
D. Alba
{"title":"Pelizaeus-Merzbacher Disease: A Rare Cause of Nystagmus and Developmental Delay","authors":"D. Alba","doi":"10.46531/sinapse/cc/230012/2023","DOIUrl":"https://doi.org/10.46531/sinapse/cc/230012/2023","url":null,"abstract":"","PeriodicalId":53695,"journal":{"name":"Sinapse","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70558108","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Hemifacial Myokymia as the presenting feature of Multiple Sclerosis 多发性硬化症的表现特征:面肌萎缩
Sinapse Pub Date : 2023-01-01 DOI: 10.46531/sinapse/cc/220062/2022
Marta Magriço
{"title":"Hemifacial Myokymia as the presenting feature of Multiple Sclerosis","authors":"Marta Magriço","doi":"10.46531/sinapse/cc/220062/2022","DOIUrl":"https://doi.org/10.46531/sinapse/cc/220062/2022","url":null,"abstract":"","PeriodicalId":53695,"journal":{"name":"Sinapse","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70557957","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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