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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
Q4 Medicine Pub Date : 2023-01-01 DOI: 10.46531/sinapse/cc/220057/2022
Pedro Lopes das Neves
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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?
Q4 Medicine Pub Date : 2023-01-01 DOI: 10.46531/sinapse/ar/220018/2023
Marcos André Gonçalves
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引用次数: 0
A Look into Familial Hemiplegic Migraine 家族性偏瘫性偏头痛的研究
Q4 Medicine Pub Date : 2023-01-01 DOI: 10.46531/sinapse/in/220058/2022
José Sá Silva
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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?
Q4 Medicine Pub Date : 2023-01-01 DOI: 10.46531/sinapse/in/220064/2022
Teresa Botelho
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.
184吉兰-巴罗综合征(GBS)是一种急性免疫介导的多神经病变,以进行性上升无力和反射性松弛为特征,在成人和儿童人群中均有发生,但在两岁以下儿童中并不常见伴有白蛋白细胞学分离的脑脊液是GBS的典型特征,并且在磁共振成像(MRI)获得的脊髓图像上也可以看到根增强我们报告了一例5个月大的健康婴儿,于2018年入院急诊科,下肢自发运动减少,特别是左下肢,进化时间不到24小时。4天前,在另一家医院进行的观察中,她曾发烧,伴有咳嗽和鼻漏,但未发现任何病因(对合胞呼吸道病毒、流感和腺病毒进行了检测)。临床检查表现为左下肢麻痹,无活动疼痛及炎症征象,双下肢肌强直性反射减退,左侧更为明显。基于感染后神经根炎的假设,在镇静状态下(使用低剂量的静脉异丙酚和右美托咪定,维持自主呼吸)进行1.5特斯拉MRI,显示弥漫性轻脑神经增强,包括脊髓的整个高度,超过后窝,直到马尾神经根,在钆给药后增厚和增强(图1和2)。腰椎Informações/信息:Imagem Neurologia, publicado em Sinapse,第22卷,Número 4, outtubrodezembro 2022。vers o eletrónica em www.sinapse.pt;《神经病学中的影像》,发表于《Sinapse》杂志,第22卷第4期,2022年10 - 12月。电子版本www.sinapse.pt©Autor (es) (ou seu (s) empreador (es)) e Sinapse 2022。reuseza o permitida de acordo com CC BY-NC。nenhuman reutilization。©作者(或其雇主)和Sinapse 2022。在CC BYNC下允许重复使用。禁止商业再利用。
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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
Q4 Medicine Pub Date : 2023-01-01 DOI: 10.46531/sinapse/rs/220055/2023
V. Figueiredo
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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
Q4 Medicine Pub Date : 2023-01-01 DOI: 10.46531/sinapse/ao/220079/2023
C. Fernandes
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.
onabotuinumtoxina (onabotA)是一种慢性偏头痛(CM)的预防性注射治疗药物,每隔12周给药一次。有些患者在下次治疗前的最后几周出现药效消退(WO)的现象。我们研究的目的是评估接受onabotA治疗的患者的WO现象,并认识到这种现象可能的预测性特征。方法:我们设计了一项横断面研究,对一组患者进行人口统计学和临床特征分析,并评估onabotA的治疗反应和不良事件。WO效应定义为治疗效果的丧失,包括在12周间隔前头痛天数减少等于或大于50%。采用显著性水平p <0.05进行统计学检验。结果:纳入60例患者(95.1%为女性),平均年龄49.0±11.4岁。在onaBotA治疗之前,患者每月平均发作约15.0次。45.3%的患者在第一次治疗后出现了治疗反应。36例(66.7%)患者在治疗后第10 ~ 12周出现了WO效应,多数(50.9%)患者在治疗后第10 ~ 12周出现了WO效应。使用155个单位PREEMPT方案的患者报告的磨损率更高(p =0.032)。结论:本研究记录了慢性偏头痛患者服用阿那伯他治疗后出现WO现象的频率较高。因此,必须通过更大规模的观察性和前瞻性研究以及临床试验评估来探索在选定患者中采用不同方案的可能性。
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引用次数: 0
Neurologia e Aves 神经病学e Aves
Q4 Medicine Pub Date : 2023-01-01 DOI: 10.46531/sinapse/ed/230018/2022
Luís Santos
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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
Q4 Medicine Pub Date : 2023-01-01 DOI: 10.46531/sinapse/cc/220068/2023
Laura Correia
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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
Q4 Medicine Pub Date : 2023-01-01 DOI: 10.46531/sinapse/cc/230012/2023
D. Alba
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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
Q4 Medicine Pub Date : 2023-01-01 DOI: 10.46531/sinapse/cc/220062/2022
Marta Magriço
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引用次数: 0
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