Arquivos de neuro-psiquiatria最新文献

{"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":"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":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11631540/pdf/","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":"OA","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":"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":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11646667/pdf/","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":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neurophysiology combined with sonography as a useful tool in median nerve leprosy diagnosis.","authors":"Osvaldo J M Nascimento","doi":"10.1055/s-0044-1801743","DOIUrl":"10.1055/s-0044-1801743","url":null,"abstract":"","PeriodicalId":8694,"journal":{"name":"Arquivos de neuro-psiquiatria","volume":"82 12","pages":"1-2"},"PeriodicalIF":1.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11710902/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142943471","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":"Multiple cerebral cavernomas in linear scleroderma: an unusual association.","authors":"Gabriela Rodrigues Tomaz, Maria Eduarda Slhessarenko Fraife Barreto, Rafael Tuzino Leite Neves Maffei, Renato Barradas Rodrigues, Sebastião Boanerges de Araujo Neto, Marianna Pinheiro Moraes de Moraes, José Luiz Pedroso, Orlando Graziani Povoas Barsottini","doi":"10.1055/s-0044-1790574","DOIUrl":"10.1055/s-0044-1790574","url":null,"abstract":"","PeriodicalId":8694,"journal":{"name":"Arquivos de neuro-psiquiatria","volume":"82 12","pages":"1-2"},"PeriodicalIF":1.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142340230","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":"Stroke in Brazil: prevalence, activity limitations, access to healthcare, and physiotherapeutic treatment.","authors":"Luana Karoline Castro Silva, Cristian Douglas Dantas de Sousa, Ramon Távora Viana, Renata Viana Brígido de Moura Jucá, Johnnatas Mikael Lopes, Christina Danielli Coelho de Morais Faria, Shamyr Sulyvan de Castro, Lidiane Andrea Oliveira Lima","doi":"10.1055/s-0044-1792094","DOIUrl":"10.1055/s-0044-1792094","url":null,"abstract":"<p><strong>Background: </strong> Stroke remains a public health problem, reported as the third cause of disability. Among survivors, the ability to perform usual daily activities may be reduced, requiring rehabilitation.</p><p><strong>Objective: </strong> To investigate the prevalence of self-reported stroke, the accessibility of healthcare, and the degree and percentage of patients with limitations in usual activities who are unassisted by physiotherapeutic treatment in different regions of the country.</p><p><strong>Methods: </strong> This cross-sectional study was conducted using data from the 2019 National Health Survey. Participants aged 15 years or older from all five geographic regions of Brazil who reported a diagnosis of stroke were included. The data were analyzed using sample weighting and expressed as estimates along with a 95% confidence interval (CI).</p><p><strong>Results: </strong> The national prevalence of self-reported stroke in Brazil was 1.9% (95%CI 1.7-2.0), equivalent to 1,975 individuals with diagnosis. Of these, 50.2% reported limitations in their daily activities, and more than half (54.6%) had regular follow-ups with healthcare professionals. However, only 24.6% reported having access to rehabilitation, while 73.4% of individuals with activity limitations received no physiotherapeutic treatment.</p><p><strong>Conclusion: </strong> The prevalence of' self-reported stroke in the Brazilian population was 1.9%, with more than half experiencing limitations in their activities. While more than half of the stroke patients underwent follow-ups from a health professional, only ¼ of them reported having access to rehabilitation. Government interventions are necessary to ensure effective access to healthcare, including rehabilitation for the Brazilian population.</p>","PeriodicalId":8694,"journal":{"name":"Arquivos de neuro-psiquiatria","volume":"82 12","pages":"1-11"},"PeriodicalIF":1.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11661889/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142870676","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":"Rockstar hands: a complex pattern of hand dystonia in Wilson's disease.","authors":"Luis Eduardo Borges de Macedo Zubko, Renata Cristine Alves, Francisco Manoel Branco Germiniani, Hélio Afonso Ghizoni Teive","doi":"10.1055/s-0044-1790573","DOIUrl":"10.1055/s-0044-1790573","url":null,"abstract":"","PeriodicalId":8694,"journal":{"name":"Arquivos de neuro-psiquiatria","volume":"82 12","pages":"1-2"},"PeriodicalIF":1.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142364196","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":"Complex movement disorders in early onset hypoparathyroidism.","authors":"Filipe Sarmento, João Vitor Gerdulli Tamanini, Sofia Mônaco Gama, Leonardo Furtado Freitas, Orlando Graziani Povoas Barsottini, José Luiz Pedroso","doi":"10.1055/s-0044-1788778","DOIUrl":"10.1055/s-0044-1788778","url":null,"abstract":"","PeriodicalId":8694,"journal":{"name":"Arquivos de neuro-psiquiatria","volume":"82 12","pages":"1-3"},"PeriodicalIF":1.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11500299/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142131704","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":"Optic neuritis in demyelinating diseases: study of 38 cases.","authors":"João Marcos Campos Ferreira, Cristiane Rebello Gomes de Souza Fontes, Carolina do Val Ferreira Ramos, Osvaldo J M Nascimento","doi":"10.1055/s-0044-1792093","DOIUrl":"10.1055/s-0044-1792093","url":null,"abstract":"<p><strong>Background: </strong> Optic neuritis is an inflammation of the optic nerve caused by genetic factors, external influences, and the activation of cross-reactive immune responses to infections.</p><p><strong>Objective: </strong> To describe the clinical and epidemiological characteristics of patients presenting optic neuritis as the initial symptom of some demyelinating diseases, divided among multiple sclerosis (MS), neuromyelitis optica spectrum disorder (NMOSD), and myelin oligodendrocyte glycoprotein-immunoglobulin G (MOG-IgG)-associated disorders (MOGADs).</p><p><strong>Methods: </strong> Thirty-eight patients who had optic neuritis as their first symptom and later developed MS, NMOSD, or MOGADs were analyzed.</p><p><strong>Results: </strong> There were thirty-four female patients (90%) and 4 male patients (10%); 23 (60%) were white and 15 (40%) were black. The most frequent definitive diagnosis was MS, with 24 (63%) cases, followed by NMOSD with 12 (32%) cases, and MOGADs with 2 (5%) cases. Regarding age, 9 (24%) were under 20 years old, 19 (50%) were between 20 and 30 years old, 6 (21%) were between 31 and 40 years old, and 2 (5%) were over 41 years old. As for the time to diagnosis, MS required 54 months in the public sector and 12 months in the private sector. Neuromyelitis optica spectrum disorder took 108 months in the private sector and 14.5 months in the public sector, while MOGADs averaged 2 months in the private sector.</p><p><strong>Conclusion: </strong> Patients with optic neuritis as the initial symptom were predominantly female, aged between 21 and 40 years, and of predominantly white ethnicity, with a higher prevalence of MS. Additionally, a direct relationship between the healthcare sector and the time to diagnosis became evident.</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":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11646668/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142827291","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":"A self-reported Brazilian registry of 5q-spinal muscular atrophy: data on natural history, genetic characteristics, and multidisciplinary care.","authors":"Rodrigo Holanda Mendonça, Juliane Suellen Arndt de Godoi, Edmar Zanoteli","doi":"10.1055/s-0044-1792096","DOIUrl":"10.1055/s-0044-1792096","url":null,"abstract":"<p><strong>Background: </strong> Spinal muscular atrophy linked to chromosome 5q (SMA-5q) is a neurodegenerative disorder caused by mutations in the <i>SMN1</i> gene.</p><p><strong>Objective: </strong> To describe the key demographic, clinical and genetic characteristics, as well as natural history data of patients with SMA-5q.</p><p><strong>Methods: </strong> Up to January 2022, 706 patients with confirmed genetic diagnosis of SMA-5q, or their parents, completed a self-reported questionnaire on natural history, genetic characteristics, drug treatments, and multidisciplinary care.</p><p><strong>Results: </strong> Most patients had type 1 SMA-5q (42%); with 33% having type 2, and 23% type 3. There were 667 patients (94.4%) with a homozygous <i>SMN1</i>-exon 7 deletion. Of the total, 131 (18.6%) patients had a previous family history of the disease, and the familial recurrence rate was higher in type 3 (25.6%). Type 1 patients had a mean age of 3 months at the onset of symptoms and a delay of more than 3 months until genetic diagnosis. The median survival of patients with type 1 without invasive ventilation was 27 months. Before 2018, the median age of use of invasive ventilation was 16 months and, after, most patients (71%) were not submitted to invasive ventilation. About 50% of patients with type 3 lost their walking ability by 37 years of age. Further, 384 (54.4%) patients had access to disease-modifying therapy, and 62.3% of type 1 patients were in treatment, compared with only 47.2% of type 2 and 31.9% of type 3 patients.</p><p><strong>Conclusion: </strong> There is still a substantial diagnostic delay, especially in those patients with types 2 and 3 SMA-5q. However, the present study demonstrated prolonged survival, especially in type 1 patients.</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":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11661891/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142871275","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":"Recent advances in autoimmune encephalitis.","authors":"João Henrique Fregadolli Ferreira, Caio César Diniz Disserol, Bruna de Freitas Dias, Alexandre Coelho Marques, Marina Driemeier Cardoso, Pedro Victor de Castro Silva, Fabio Fieni Toso, Lívia Almeida Dutra","doi":"10.1055/s-0044-1793933","DOIUrl":"10.1055/s-0044-1793933","url":null,"abstract":"<p><p>Since the description of autoimmune encephalitis (AE) associated with N-methyl-D-aspartate receptor antibodies (anti-NMDARE) in 2007, more than 12 other clinical syndromes and antibodies have been reported. In this article, we review recent advances in pathophysiology, genetics, diagnosis pitfalls, and clinical phenotypes of AE associated with cell surface antibodies and anti-GAD associated neurological syndromes. Genetic studies reported human leukocyte antigen (HLA) associations for anti-LGI1, anti-Caspr2, anti-IgLON5, and anti-GAD. Follow-up studies characterized cognitive dysfunction, psychiatric symptoms, sleep disorders, and adaptative behavior dysfunction, mainly for anti-NMDARE. Late-onset anti-NMDARE and anti- GABA-B receptor (GABA-BR) encephalitis patients were described to have worse prognoses and different tumor associations. Additionally, the clinical spectrum of anti-LGI1, anti-AMPAR, anti-CASPR2, and anti-IgLON5 was expanded, comprising new differential diagnoses. The diagnostic criteria for AE were adapted to the pediatric population, and a diagnostic algorithm was proposed, considering potential mimics and misdiagnosis. We also review the limitations of commercial assays for AE and treatment recommendations, as well as clinical scales for short and long-term assessment of AE patients, along with cognitive evaluation.</p>","PeriodicalId":8694,"journal":{"name":"Arquivos de neuro-psiquiatria","volume":"82 12","pages":"1-13"},"PeriodicalIF":1.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11661894/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142870751","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}