Arquivos de neuro-psiquiatria最新文献

{"title":"Real-world tafamidis experience in hereditary transthyretin amyloidosis with peripheral neuropathy in Brazil.","authors":"Luiz Felipe Pinto, Marcus V Pinto, Paula Accioli, Gabriela Amorim, Renata Gervais de Santa Rosa, Moises Dias, Mariana Guedes, Carlos P Gomez, Roberto C Pedrosa, Marcia Waddington-Cruz","doi":"10.1055/s-0044-1793936","DOIUrl":"https://doi.org/10.1055/s-0044-1793936","url":null,"abstract":"<p><strong>Background: </strong> Tafamidis is a kinetic stabilizer that binds to the transthyretin (TTR) gene, inhibiting its dissociation. It is the only disease-modifying treatment for hereditary TTR amyloidosis with peripheral neuropathy (ATTRv-PN) available in the National Therapeutic Form (Formulário Terapêutico Nacional, FTN, in Portuguese) of the Brazilian Unified Health System (Sistema Único de Saúde, SUS, in Portuguese).</p><p><strong>Objective: </strong> To assess if the efficacy and safety of tafamidis in the Brazilian real-world experience are comparable to the results of clinical trials.</p><p><strong>Methods: </strong> We retrospectively studied all patients with ATTRv-PN evaluated at our center from September 2011 to March 2022 (data cut-off) who were initiated on tafamidis and had at least 1 follow up visit 6 months after the initiation of the drug treatment. Neurologic and functional outcomes were compared from day 1 (D1) of the tafamidis treatment (baseline) to the last follow-up.</p><p><strong>Results: </strong> In total, 33 patients were included, 18 (55%) of whom were female. All patients were carriers of the V30M mutation of ATTRv-PN, and 20 (61%) presented early onset (EO) ATTRv-PN. At baseline, the median age of the sample was of 40 (interquartile range [IQR]: 36-68) years, the median Neuropathy Impairment Score (NIS) was of 10 (6-24) points, and the median body mass index (BMI) was of 26 (23-28) kg/m². The mean follow-up time was of 3.4 years. At the last follow-up, the BMI, the neurological impairment, and the level of disability slightly worsened compared with baseline, while the findings of the nerve conduction studies remained stable. These same results were observed across EO and late-onset (LO) ATTRv-PN patients. A total of 25 (75.8%) patients were considered responders, and 8 (24.2%), non-responders.</p><p><strong>Conclusion: </strong> The efficacy and safety of tafamidis reported in clinical trials is expandable to the Brazilian real-world scenario in EO and late-onset (LO) ATTRv-PN.</p>","PeriodicalId":8694,"journal":{"name":"Arquivos de neuro-psiquiatria","volume":"83 1","pages":"1-6"},"PeriodicalIF":1.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142999159","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Dosage of botulinum toxin in patients undergoing treatment for hemifacial spasm: is there modification during follow-up?","authors":"Fátima de Menezes Dantas, Felipe Olobardi Freire, Agábio Diógenes Pessoa Neto, Clécio de Oliveira Godeiro Júnior, Rodrigo Alencar E Silva","doi":"10.1055/s-0044-1793935","DOIUrl":"https://doi.org/10.1055/s-0044-1793935","url":null,"abstract":"<p><strong>Background: </strong> The movement disorder known as hemifacial spasm is characterized by involuntary contractions of the muscles that are innervated by the facial nerve. The treatment of choice for this condition is botulinum toxin injections.</p><p><strong>Objective: </strong> To analyze the botulinum toxin dosage in patients undergoing treatment for hemifacial spasm during a 14-year period.</p><p><strong>Methods: </strong> A retrospective study of medical records from patients treated at the Neurology Service of Hospital Universitário Onofre Lopes, Universidade Federal do Rio Grande do Norte, from 2010 to 2024, was performed.</p><p><strong>Results: </strong> A total of 151 patients met the inclusion criteria. The dose of botulinum toxin revealed a statistically significant increase during the first 3.46 years of follow-up. In the long-term, a trend toward dose stabilization was identified. The median latency for the onset of effect was 4 days, while the median duration of effect was 3 months. All side effects were temporary, with the most common being hemifacial weakness (17.9%) and palpebral ptosis (3.3%). Most patients presented primary hemifacial spasm (88.1%), with a neurovascular conflict identified in 24.1% of cases.</p><p><strong>Conclusion: </strong> The increase in botulinum toxin dosage during the first years may be explained by dosage adjustment to control hemifacial spasm with the lowest possible doses. A prolonged interval between applications may also be associated with this increase. Dose stabilization tends to be achieved over time, indicating disease control.</p>","PeriodicalId":8694,"journal":{"name":"Arquivos de neuro-psiquiatria","volume":"83 1","pages":"1-8"},"PeriodicalIF":1.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142999156","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Repeated intravenous thrombolysis in early recurrent stroke due to free-floating thrombus.","authors":"Luis Eduardo Borges de Macedo Zubko, Felipe Trevisan Matos Novak, Marcos C Lange","doi":"10.1055/s-0044-1792090","DOIUrl":"https://doi.org/10.1055/s-0044-1792090","url":null,"abstract":"","PeriodicalId":8694,"journal":{"name":"Arquivos de neuro-psiquiatria","volume":"83 1","pages":"1-2"},"PeriodicalIF":1.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142999238","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The role of lipid metabolism in cognitive impairment.","authors":"Meifang Xu, Liyuan Wang, Yun Meng, Guiqiong Kang, Qing Jiang, Tao Yan, Fengyuan Che","doi":"10.1055/s-0044-1792097","DOIUrl":"https://doi.org/10.1055/s-0044-1792097","url":null,"abstract":"<p><p>Alzheimer's disease (AD), diabetic cognitive impairment (DCI), and vascular dementia (VD) are considered the most common causes of severe cognitive impairment in clinical practice. Numerous factors can influence their progression, and many studies have recently revealed that metabolic disorders play crucial roles in the progression of cognitive impairment. Mounting evidence indicate that the regulation of lipid metabolism is a major factor in maintaining brain homeostasis. Generally, abnormalities in lipid metabolism can affect amyloid-beta (Aβ) deposition, tau hyperphosphorylation, and insulin resistance through lipid metabolic signaling cascades; affect the neuronal membrane structure, neurotransmitter synthesis and release; and promote synapse growth, which can impact neural signal transmission and exacerbate disease progression in individuals with cognitive impairment, including AD, DCI, and VD. Moreover, apolipoprotein E (APOE), a key protein in lipid transport, is involved in the occurrence and development of the aforementioned diseases by regulating lipid metabolism. The present article mainly discusses how lipid metabolic disorders in the brain microenvironment are involved in regulating the progression of cognitive impairment, and it explores the regulatory effects of targeting the key lipid transport protein APOE in the context of the role of lipid metabolism in the common pathogenesis of three diseases-Aβ deposition, tau hyperphosphorylation, and insulin resistance-which will help elucidate the potential of targeting lipid metabolism for the treatment of cognitive impairment.</p>","PeriodicalId":8694,"journal":{"name":"Arquivos de neuro-psiquiatria","volume":"83 1","pages":"1-13"},"PeriodicalIF":1.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142999246","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neurology pioneers in Japan.","authors":"Hélio A Ghizoni Teive, Léo Coutinho, Francisco E C Cardoso, Shoji Tsuji","doi":"10.1055/s-0044-1791661","DOIUrl":"https://doi.org/10.1055/s-0044-1791661","url":null,"abstract":"<p><p>The pioneers of neurology in Japan were professors Hiroshi Kawahara and Kinnosuke Miura. Kawahara published the first description of progressive bulbar palsy and wrote the first neurology textbook in Japan. Miura, on the other hand, published studies about amyotrophic lateral sclerosis, in addition to participating in the founding of the Japanese Society of Neurology. The influence of European neurology, particularly French and German, in the figures of Professor Jean-Martin Charcot and Professor Erwin Bälz, was fundamental in the consolidation of neurology in Japan.</p>","PeriodicalId":8694,"journal":{"name":"Arquivos de neuro-psiquiatria","volume":"83 1","pages":"1-3"},"PeriodicalIF":1.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142999157","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Charcot's Russian pupils.","authors":"Hélio Afonso Ghizoni Teive, Léo Coutinho, Carlos Henrique Ferreira Camargo","doi":"10.1055/s-0044-1789226","DOIUrl":"10.1055/s-0044-1789226","url":null,"abstract":"<p><p>The establishment of Russian neurology in the late 19th century was significantly shaped by the neurology department at La Salpêtrière Hospital under Professor Jean-Martin Charcot's leadership. A group of Russian neurologists, guided by Professor Kozhevnikov and featuring his disciples such as Korsakov, Minor, Darkshevich, and Bekhterev, had the privilege of being mentored by Professor Charcot. Subsequently, they played pivotal roles in founding various neurology services in Russia, greatly influenced by the teachings and insights they acquired under Charcot's tutelage.</p>","PeriodicalId":8694,"journal":{"name":"Arquivos de neuro-psiquiatria","volume":"82 12","pages":"1-4"},"PeriodicalIF":1.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11500286/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142279916","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Dengue and severe dengue with neurological complications: a challenge for prevention and control.","authors":"Emanuelle de Oliveira Francelino, Marzia Puccioni-Sohler","doi":"10.1055/s-0044-1792091","DOIUrl":"https://doi.org/10.1055/s-0044-1792091","url":null,"abstract":"<p><p>Dengue is the main urban arbovirus in the Americas. The disease manifests in a varied spectrum: from asymptomatic cases to those with neurological involvement, which is considered a severe form of the disease. Its annual reemergence represents a serious public health problem. The rise in the number of cases causes an increase in the number of patients with neurological manifestations of the disease, which can range from headaches to more serious conditions such as encephalitis and Guillain-Barré syndrome, with high potential of death or sequelae. Dengue prevention and control strategies should also be a concern for neurologists. The aim of the present study is to carry out a narrative review of the current methods to prevent dengue fever and its severe forms, such as cases with neurological complications. The main control measures include vaccination, which is still carried out on a small scale, vector control, and individual protection. The CYD-TDV/Dengvaxia and TAK-003/DENVax vaccines, licensed for use by the Brazilian National Health Regulatory Agency (Agência Nacional de Vigilância Sanitária, ANVISA, in Portuguese), show efficacy against hospitalizations of 72.7% (95% confidence interval [95%CI]: 62.3-80.3%) and of 90.4% (95%CI: 82.6-94.7%) respectively. The TV003/TV005 vaccine, which is being studied by Intituto Butantan in Brazil, shows promising results, with an efficacy of 79.6% for symptomatic dengue. Vector control is based on biotechnological and behavioral measures, as well as on the improvement of basic sanitation conditions. The main individual protection measure is the use of topical repellents (icaridin). All of these actions represent important tools for the prevention of dengue fever and its neurological complications.</p>","PeriodicalId":8694,"journal":{"name":"Arquivos de neuro-psiquiatria","volume":"82 12","pages":"1-6"},"PeriodicalIF":1.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142765920","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Median nerve impairment in leprosy: how does it differ from the classic carpal tunnel syndrome?","authors":"Pedro Henrique Sirotheau Corrêa Alves, Fernanda de Oliveira Cirino, Leonardo Peixoto Garcia, João Paulo Moreira Fernandes, Andrea De Martino Luppi, Douglas Eulálio Antunes, Raquel Campos Pereira, Wilson Marques Junior, Isabela Maria Bernardes Goulart, Diogo Fernandes Dos Santos","doi":"10.1055/s-0044-1792092","DOIUrl":"https://doi.org/10.1055/s-0044-1792092","url":null,"abstract":"<p><strong>Background: </strong> Carpal tunnel syndrome (CTS) has already been described as a possible form of neural leprosy presentation. However, the median nerve can be involved in this neuropathy in proximal segments and, sometimes, with an asymmetric impairment of the digital branches.</p><p><strong>Objective: </strong> To detail the pattern of median nerve impairment through nerve conduction study (NCS) and ultrasound evaluation.</p><p><strong>Methods: </strong> This cross-sectional study comprises 15 primary neural leprosy (PNL) patients and 14 patients with CTS who underwent peripheral nerve ultrasonography and NCS evaluation.</p><p><strong>Results: </strong> From the total, 92.8% of patients with CTS and 80% with PNL had bilateral impairment of the median nerve, with 27 nerves in each group. Considering the cross-sectional area (CSA) of the tunnel (Mt) segment, 63% of the nerves in the CTS and 74.1% in the PNL groups were found to be thickened, with an average CSA of 13.4 ± 4.4 and 12.4 ± 4.6, respectively (<i>p</i> = 0.18). The CSA of the proximal tunnel (Mpt) segment showed thickening in only 3.7% in the CTS group and 96.3% in the PNL (<i>p</i> < 0.0001), with an average of 6.6 ± 1.3 and 17.0 ± 6.7, respectively (<i>p</i> < 0.001). Finally, 88.9% of the nerves in the PNL group and only 7.4% in the CSA (<i>p</i> < 0.0001) showed a reduction in conduction velocity in the distal forearm, with an average of 41.0 ± 6.3 and 53.2 ± 5.2, respectively (<i>p</i> < 0.0001).</p><p><strong>Conclusion: </strong> The presence of neural thickening and demyelinating impairment in the segments proximal to the carpal tunnel favors the diagnosis of leprosy.</p>","PeriodicalId":8694,"journal":{"name":"Arquivos de neuro-psiquiatria","volume":"82 12","pages":"1-6"},"PeriodicalIF":1.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142806078","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neurovascular complications of antiphospholipid syndrome: a narrative review.","authors":"George Nilton Nunes Mendes, Alessandra Braga Cruz Guedes de Morais, Laura Catherine Gioia, Grégory Jacquin, Alexandre Y Poppe, Felipe Hideki Soga, João Brainer Clares de Andrade","doi":"10.1055/s-0044-1793932","DOIUrl":"https://doi.org/10.1055/s-0044-1793932","url":null,"abstract":"<p><strong>Background: </strong> Antiphospholipid syndrome (APS) is a systemic autoimmune disorder characterized by thrombosis, pregnancy complications, and other nonthrombotic manifestations in the presence of antiphospholipid antibodies. Neurovascular complications, including ischemic stroke, cerebral venous thrombosis and cognitive impairment, pose significant challenges in management.</p><p><strong>Objective: </strong> To comprehensively review relevant and updated clinical aspects of neurovascular manifestations of APS.</p><p><strong>Methods: </strong> We conducted a narrative review using the PubMed, EMBASE, and Cochrane Library databases with medical terms related to APS and its neurovascular manifestations. English-language studies, published between January 1, 2015, and March 2024, were included. Key publications outside this timeframe were also considered. Studies with higher levels of evidence, such as randomized controlled trials and meta-analyses, were prioritized for inclusion.</p><p><strong>Results: </strong> Stroke is a prevalent complication in APS, with arterial thrombosis being a predominant mechanism. Despite recent trials, direct oral anticoagulants (DOACs) have not shown superiority over vitamin K antagonists (VKAs) for secondary prevention in this population. Cerebral venous thrombosis (CVT), although rare, can also occur in APS, and while DOACs have shown promise as a treatment in a general population, caution is warranted due to potential harm. Cognitive impairment affects a considerable proportion of APS patients, with thrombotic and nonthrombotic mechanisms contributing to its pathophysiology. Future research should focus on optimal management strategies for cognitive impairment and the efficacy of anticoagulation and immunosuppression.</p><p><strong>Conclusion: </strong> Understanding the complex interplay of neurovascular manifestations in APS is essential for guiding clinical decisions and improving patient outcomes. Despite advancements, some challenges remain in establishing effective preventive and treatment measures, highlighting the need for further research in this field.</p>","PeriodicalId":8694,"journal":{"name":"Arquivos de neuro-psiquiatria","volume":"82 12","pages":"1-7"},"PeriodicalIF":1.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142806080","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association of interleukin 4 and MTHFR gene polymorphisms with distal symmetrical polyneuropathy in young diabetics.","authors":"Raquel Garcia Rocco da Silva, Marcelo A Costa Lima, Claudia de Melo Moura, Jorge Luiz Luescher, Ludmila Nascimento Rodrigues Campos, Daniel de Souza E Silva, Márcia Gonçalves Ribeiro","doi":"10.1055/s-0044-1793931","DOIUrl":"https://doi.org/10.1055/s-0044-1793931","url":null,"abstract":"<p><strong>Background: </strong> It is believed that genetic factors play a role in the development and severity of neural injury among people with distal symmetrical polyneuropathy (DSP), because some genes are involved in specific biological pathways, acting in different ways in the pathogenic process.</p><p><strong>Objective: </strong> To identify potential associations involving the <i>5,10-methylenetetrahydrofolate reductase</i> (<i>MTHFR</i> C677T) and <i>interleukin 4</i> (<i>IL-4</i> intron 3 variable number of tandem repeats [I3VNTR]) gene polymorphisms and DSP in the studied sample.</p><p><strong>Methods: </strong> In total, 70 children and adolescents with type-1 diabetes underwent a nerve conduction studie (NCS) of the sural nerve. Saliva samples were collected for DNA extraction and genotyping of the <i>MTHFR</i> C677T and <i>IL-4</i> I3VNTR polymorphisms.</p><p><strong>Results: </strong> The prevalence of DSP was 15.71%. The participants with DSP presented higher mean levels of glycated hemoglobin, triglycerides, total cholesterol, and low-density lipoprotein (LDL) (<i>p</i> > 0.05). The NCS amplitudes were lower in individuals with DSP (<i>p</i> = 0.00). The mean conduction velocity was lower in people with the <i>A1A1</i> genotype (<i>p</i> = 0.02). Maternal and paternal history of diabetes in great-grandparents were associated with DSP (<i>p</i> = 0.04 and 0.02, respectively). Glycated hemoglobin and impaired Achilles reflex were associated with the <i>MTHFR</i> <i>CC</i> genotype (<i>p</i> = 0.04 and 0.05 respectively) and high-density lipoprotein (HDL) cholesterol was associated with the <i>MTHFR</i> <i>CT</i> genotype (<i>p</i> = 0.05). We found no association between the polymorphisms investigated and DSP.</p><p><strong>Conclusion: </strong> In the present study, we found no association involving the <i>MTHFR</i> C677T and <i>IL-4</i> I3VNTR polymorphisms and DSP. However, the study provides other associations and suggests possible implications for these findings.</p>","PeriodicalId":8694,"journal":{"name":"Arquivos de neuro-psiquiatria","volume":"82 12","pages":"1-9"},"PeriodicalIF":1.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142827290","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}