Sinapse最新文献

{"title":"Tics, Functional Tics, TikTok and COVID-19: A Pediatric Case Report","authors":"Vanessa Mendonça","doi":"10.46531/sinapse/cc/220007/2022","DOIUrl":"https://doi.org/10.46531/sinapse/cc/220007/2022","url":null,"abstract":"Functional tics are a rare manifestation of the spectrum of functional neurological disorders. The phenomenological similarity with organic and simulated pathology poses important diagnostic challenges, but they should not be considered a diagnosis of exclusion. Recently there have been sudden outbreaks of bizarre tics in ado-lescent girls during the confinement imposed by the COVID-19 pandemic, whose appearance seems to be related to the use of TikTok application and for which we intend to alert, through a clinical case illustrated with a video. Copyright © 2022, Sociedade Portuguesa de Neurologia. All rights reserved.","PeriodicalId":53695,"journal":{"name":"Sinapse","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47891232","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}

{"title":"Doença de Moyamoya no Adulto: Um Caso Clínico","authors":"Marta Costa","doi":"10.46531/sinapse/cc/220047/2022","DOIUrl":"https://doi.org/10.46531/sinapse/cc/220047/2022","url":null,"abstract":"","PeriodicalId":53695,"journal":{"name":"Sinapse","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48581813","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}

{"title":"Neuroimaging Clues in Tumefactive Multiple Sclerosis","authors":"M. Soares","doi":"10.46531/sinapse/in/220042/2022","DOIUrl":"https://doi.org/10.46531/sinapse/in/220042/2022","url":null,"abstract":"144 Informações/Informations: Imagem em Neurologia, publicado em Sinapse, Volume 22, Número 3, julho-setembro 2022. Versão eletrónica em www.sinapse.pt; Image in Neurology, published in Sinapse, Volume 22, Number 3, July-September 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":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42743211","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}

{"title":"Atypical Parkinsonism Presenting with Isolated Gaze Palsy","authors":"Carvalho Inês","doi":"10.46531/sinapse/in/220019/2022","DOIUrl":"https://doi.org/10.46531/sinapse/in/220019/2022","url":null,"abstract":"","PeriodicalId":53695,"journal":{"name":"Sinapse","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48466195","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}

{"title":"The Shadow-Side of the Neurological Evaluation","authors":"J. Pimentel","doi":"10.46531/sinapse/ed/220037/2022","DOIUrl":"https://doi.org/10.46531/sinapse/ed/220037/2022","url":null,"abstract":"","PeriodicalId":53695,"journal":{"name":"Sinapse","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45462591","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}

{"title":"Let the Fibers Guide You: DTI in ARSACS","authors":"J. Silva","doi":"10.46531/sinapse/in/210083/2022","DOIUrl":"https://doi.org/10.46531/sinapse/in/210083/2022","url":null,"abstract":"","PeriodicalId":53695,"journal":{"name":"Sinapse","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46457843","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}

{"title":"Efficacy and Safety of Fremanezumab in Patients with Migraine: Real-World Evidence in a Private Neurological Center","authors":"Marli Vitorino","doi":"10.46531/sinapse/ao/220005/2022","DOIUrl":"https://doi.org/10.46531/sinapse/ao/220005/2022","url":null,"abstract":"Introduction: Migraine is the first cause of disability under 50 years of age. In the last decade there were significant advances in the comprehension of this disorder that led to the development of specific treatments, such as those targeting calcitonin gene-related peptide (CGRP) or its receptor including monoclonal antibodies. Here, we present real life results of a cohort of migraine patients treated with fremanezumab. Material and Methods: We analysed data, collected prospectively for 18 months, of consecutive patients with migraine treated with fremanezumab in a Lisbon center. Patients had a baseline evaluation and monthly visits. Data included monthly headache days, a composite headache measure (days x pain intensity), acute treatment intake and adverse events. Patients also fulfilled quality of life and migraine impact scales at 1st, 3rd, 6th, 9th and 12th months of treatment and were evaluated after treatment withdrawal. Efficacy was defined as a reduction ≥ 30% or ≥ 50% of the number of monthly headache days (in chronic and episodic migraine, respectively) compared to baseline. Results: We included 29 patients (47.8 years of age, 25 female) with chronic (n=20) or high frequency episodic (n=9), migraine previously resistant to an average of 3.3 oral preventives/botulinum toxin, 20 with medication overuse. Efficacy increased from 62% in the 1st month to 76.9% on the 3rd and there was a significant reduction of migraine headache days, acute medication intake, index and HIT-6 scores and improved quality of life in all assessment periods compared to baseline. The most common adverse events were constipation (27.6%) and pain on the injection site (20.7%) leading to interruption of treatment in one patient. There was no increase in the number of headache days or acute medication intake five months after treatment interruption. Conclusion: These results corroborate data from clinical trials about the efficacy and safety of fremanezumab, showing an improvement of different migraine measures and impact, even in patients with resistant migraine and medication overuse. In general, adverse events were well tolerated not leading to treatment withdrawal.","PeriodicalId":53695,"journal":{"name":"Sinapse","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42012281","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}

{"title":"Distal Involvement and Subsarcolemmal Minicore-Like Areas in a Case of POGLUT1-Associated Myopathy","authors":"M. Malaquias","doi":"10.46531/sinapse/cc/220035/2022","DOIUrl":"https://doi.org/10.46531/sinapse/cc/220035/2022","url":null,"abstract":"","PeriodicalId":53695,"journal":{"name":"Sinapse","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48973553","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}

{"title":"Mucopolysaccharidosis Type I, Hematopoietic Cell Transplantation and Neurodevelopmental Profile: A Case Report","authors":"Rafael Inácio","doi":"10.46531/sinapse/cc/210086/2022","DOIUrl":"https://doi.org/10.46531/sinapse/cc/210086/2022","url":null,"abstract":"Type I mucopolysaccharidosis is caused by an alpha-L-iduronidase deficit and has three phenotypic expressions. Hurler syndrome includes dysmorphias, hirsutism, hepatosplenomegaly, hydrocephalus, skeletal deformities, recurrent infections, heart abnormalities, and global developmental delay. Hematopoietic cell transplantation provides a continuous source of alpha-L-iduronidase throughout the body, including the central nervous system and, currently, appears to be the gold-standard therapy for this pathology. We present the case of a six-years-old child with the diagnosis of Hurler syndrome, submitted to hematopoietic cell transplantation and integrated in a structured support plan with special education, speech therapy and early home intervention, who presents a trend of convergence with the normality in all the development areas, except for locomotor skills and eye-hand coordination. These findings highlight the positive impact of the hematopoietic cell transplantation together with the early and structured intervention of a multidisciplinary team in the neurodevelopmental profile of children affected by Hurler syndrome.","PeriodicalId":53695,"journal":{"name":"Sinapse","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45699149","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}

{"title":"Immunotherapy in Pediatric Guillain-Barré Syndrome: Intravenous Immunoglobulin, Plasmapheresis, Both or Something Else?","authors":"Gonçalo Favinha","doi":"10.46531/sinapse/ar/220002/2022","DOIUrl":"https://doi.org/10.46531/sinapse/ar/220002/2022","url":null,"abstract":"Guillain-Barré syndrome (GBS) is an autoimmune disease of the peripheral nervous system that is clinically characterized by rapidly progressing and symmetric muscle weakness, loss (or decrease) of deep tendon reflexes and respiratory distress, leading in some cases to the need for artificial ventilation. This is a clinical diagnosis that can be supported by the integration of several results, coming from cerebrospinal fluid examination, neuroimaging, nerve conduction studies and serum analysis. Plasma exchange and intravenous immunoglobulin (IgIV) are both treatments that have proven to be effective in improving motor recovery and reducing the need for mechanic ventilation. While their efficacy is comparable, IgIV is the first line treatment and plasma exchange is not used as the primary approach due to the need for specialized personnel and specific equipment. However, some long-term results with intravenous monotherapy are not always the most favorable and, therefore, studies combining the two interventions have begun to be developed. One of them, defining the zipper method, proved that intercalating both techniques may improve the outcome when compared to each therapy on its own. Nevertheless, approaches with monoclonal antibodies, such as eculizumab, seem interesting, but only in adults, so far. In this article, we aim to review existing evidence on the immune therapeutic approach to GBS in children.","PeriodicalId":53695,"journal":{"name":"Sinapse","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42775217","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}