Pub Date : 2022-10-20DOI: 10.46531/sinapse/cc/220047/2022
Marta Costa
{"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}
Pub Date : 2022-06-30DOI: 10.46531/sinapse/ed/220037/2022
J. Pimentel
{"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}
Pub Date : 2022-06-30DOI: 10.46531/sinapse/in/210083/2022
J. Silva
{"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}
Pub Date : 2022-06-30DOI: 10.46531/sinapse/ao/220005/2022
Marli Vitorino
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.
{"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}
Pub Date : 2022-06-30DOI: 10.46531/sinapse/cc/220035/2022
M. Malaquias
{"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}
Pub Date : 2022-06-30DOI: 10.46531/sinapse/cc/210086/2022
Rafael Inácio
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.
I型粘多糖病是由α - l -糖醛酸酶缺陷引起的，有三种表型表达。赫勒综合征包括畸形、多毛、肝脾肿大、脑积水、骨骼畸形、复发性感染、心脏异常和整体发育迟缓。造血细胞移植在包括中枢神经系统在内的全身提供了α - l -伊杜糖醛酸酶的持续来源，目前似乎是治疗这种病理的金标准疗法。我们报告一个六岁的儿童，诊断为Hurler综合征，接受造血细胞移植，并结合特殊教育，语言治疗和早期家庭干预的结构化支持计划，除了运动技能和眼手协调能力外，该儿童在所有发展领域都呈现出与正常趋同的趋势。这些发现强调了造血细胞移植以及多学科团队对受赫勒综合征影响的儿童神经发育的早期和结构化干预的积极影响。
{"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}
Pub Date : 2022-06-30DOI: 10.46531/sinapse/ar/220002/2022
Gonçalo Favinha
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.
{"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}
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