Arquivos de neuro-psiquiatria最新文献_第10页

Diagnostic performance of the Brief Cognitive Screening Battery-Indonesian version in detecting cognitive impairment. 简易认知筛查电池-印尼版在检测认知障碍中的诊断性能。

IF 1.6 4区医学

Arquivos de neuro-psiquiatria Pub Date : 2025-04-01 Epub Date: 2025-06-01 DOI: 10.1055/s-0045-1809335

Fasihah Irfani Fitri, Dina Nazriani, Octaviasari Agatha Dachi, Ricardo Nitrini, Paulo Caramelli

{"title":"Diagnostic performance of the Brief Cognitive Screening Battery-Indonesian version in detecting cognitive impairment.","authors":"Fasihah Irfani Fitri, Dina Nazriani, Octaviasari Agatha Dachi, Ricardo Nitrini, Paulo Caramelli","doi":"10.1055/s-0045-1809335","DOIUrl":"10.1055/s-0045-1809335","url":null,"abstract":"Neuropsychological and functional assessments are crucial for identifying the transition from healthy aging to dementia. While brief cognitive batteries have become popular for their practicality, most have been developed in high-income countries, neglecting the diverse educational backgrounds found in developing nations.This study focuses on the Brief Cognitive Screening Battery (BCSB) adapted for Indonesia (BCSB-INA), aiming to investigate its diagnostic accuracy in detecting cognitive impairment among older adults.This cross-sectional study was conducted at the Memory Clinic of Universitas Sumatera Utara Hospital from January to August 2024, including participants aged 50 and above. Subjects underwent cognitive assessments using MoCA-INA and BCSB-INA. Data analysis involved ROC curves to evaluate the tests' accuracy.A total of 140 subjects were included, with significant differences in cognitive test scores between those with cognitive impairment and normal individuals. The BCSB-INA demonstrated good diagnostic performance, with an AUC of 0.875 when including the Clock Drawing Test (CDT) and 0.810 without it. The development of a multivariate model further enhances its diagnostic capabilities, allowing for more tailored intervention strategies.The BCSB-INA represents an important improvement in cognitive assessment for older adults in Indonesia, showing good sensitivity and specificity. Continued research and updates to cognitive assessment tools are crucial to meet the increasing demand for effective dementia screening in diverse populations.","PeriodicalId":8694,"journal":{"name":"Arquivos de neuro-psiquiatria","volume":"83 4","pages":"1-6"},"PeriodicalIF":1.6,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12127041/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144198205","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}

引用次数: 0

A decade of whole-exome sequencing in Brazilian Neurology: from past insights to future perspectives. 巴西神经病学的十年全外显子组测序：从过去的见解到未来的观点。

IF 1.6 4区医学

Arquivos de neuro-psiquiatria Pub Date : 2025-04-01 Epub Date: 2025-05-13 DOI: 10.1055/s-0045-1807715

Caio Robledo D'Angioli Costa Quaio, Thiago Yoshinaga Tonholo Silva, Orlando G Barsottini, Sarah Teixeira Camargos, Marcondes C França, Jonas A Saute, Wilson Marques, Fernando Kok, José Luiz Pedroso

{"title":"A decade of whole-exome sequencing in Brazilian Neurology: from past insights to future perspectives.","authors":"Caio Robledo D'Angioli Costa Quaio, Thiago Yoshinaga Tonholo Silva, Orlando G Barsottini, Sarah Teixeira Camargos, Marcondes C França, Jonas A Saute, Wilson Marques, Fernando Kok, José Luiz Pedroso","doi":"10.1055/s-0045-1807715","DOIUrl":"10.1055/s-0045-1807715","url":null,"abstract":"Over the last decade, whole-exome sequencing (WES) has become a standard diagnostic tool, significantly transforming the landscape of clinical genetics and playing a pivotal role in the diagnosis of neurogenetic diseases. This revolutionary shift has left a lasting impact on the field of neurology in Brazil. The current review article examines key developments and milestones achieved in Brazil through the application of WES in neurology and discusses forthcoming challenges and essential steps to advance molecular diagnosis. Several studies report the use of WES to diagnose genetic disorders with neurological manifestations in Brazil, underscoring the growing importance of molecular diagnosis in neurogenetics. These studies often provide detailed phenotypic analyses and clinical descriptions, offering valuable insights into the genetic underpinnings of several neurological conditions. Many reports highlight the use of WES in the investigation of complex neurological conditions in Brazil, such as neurodevelopmental disorders, hereditary spastic paraplegia, movement disorders, and ataxia. The discovery of new genes implicated in monogenic diseases with neurological manifestations through WES was a significant breakthrough. Despite these advances, the availability of large cohort studies on rare diseases in Brazil remains limited, hindering the ability to generalize findings and explore the full spectrum of genetic diversity. However, a few larger cohort studies have substantially contributed to our understanding of rare diseases and specific neurological disorders.While WES has limitations and may eventually be supplanted by more advanced diagnostic tools, it left a permanent mark on the neurology field in Brazil. The field of neurogenetics is set to become increasingly important in the future.","PeriodicalId":8694,"journal":{"name":"Arquivos de neuro-psiquiatria","volume":"83 4","pages":"1-14"},"PeriodicalIF":1.6,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12074826/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143958079","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}

引用次数: 0

Assessing female sexual dysfunction in patients with relapsing-remitting multiple sclerosis. 评估复发缓解型多发性硬化症患者的女性性功能障碍。

IF 1.6 4区医学

Arquivos de neuro-psiquiatria Pub Date : 2025-04-01 Epub Date: 2025-04-22 DOI: 10.1055/s-0045-1806819

Elisa Matias Vieira de Melo, Flavia Fairbanks Lima de Oliveira Ruano, Maria Fernanda Mendes, Guilherme Sciascia do Olival

{"title":"Assessing female sexual dysfunction in patients with relapsing-remitting multiple sclerosis.","authors":"Elisa Matias Vieira de Melo, Flavia Fairbanks Lima de Oliveira Ruano, Maria Fernanda Mendes, Guilherme Sciascia do Olival","doi":"10.1055/s-0045-1806819","DOIUrl":"10.1055/s-0045-1806819","url":null,"abstract":"Background: Multiple sclerosis (MS) affects mainly young people of reproductive age with significant lifelong repercussions, among which sexual dysfunction (SD) is one of the most neglected during routine clinical care.Objective: To evaluate SD in female patients diagnosed with relapsing-remitting MS (RRMS).Methods: This cross-sectional analytic study was performed at the Santa Casa de São Paulo Hospital, Faculdade de Ciências Médicas, São Paulo, Brazil, between November 2020 and March 2022. The sample included 80 female patients diagnosed with RRMS and 106 healthy controls. Questionnaires probing sexual dysfunction (the Multiple Sclerosis Intimacy and Sexuality Questionnaire - MSISQ-19 and the Female Sexual Function Index - FSFI) and depression and anxiety (the Hospital Anxiety and Depression Scale - HADS, the Beck Depression Inventory - BDI; and the Beck Anxiety Inventory - BAI) were applied.Results: A high prevalence of SD in both groups (43.4% and 38.8% for the RRMS and control groups, respectively) was identified by the FSFI analysis. A statistically higher prevalence (56.3%) of sexual dysfunction was detected in RRMS patients when using the MSISQ-19 tool to assess sexuality in this population compared with the FSFI scale (p = 0.016).Conclusion: A high prevalence of SD was found in both MS patients and healthy controls as measured by the FSFI. However, the specific tool (MSISQ-19) revealed a higher prevalence of SD in MS patients. Thus, the use of MSISQ-19 for the diagnosis and management of SD in this patient group is recommended.","PeriodicalId":8694,"journal":{"name":"Arquivos de neuro-psiquiatria","volume":"83 4","pages":"1-8"},"PeriodicalIF":1.6,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12020498/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143953436","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}

引用次数: 0

Before executive dysfunction is attributed to fibromyalgia, other causes must be thoroughly ruled out. 在将执行功能障碍归因于纤维肌痛之前，必须彻底排除其他原因。

IF 1.6 4区医学

Arquivos de neuro-psiquiatria Pub Date : 2025-04-01 Epub Date: 2025-05-26 DOI: 10.1055/s-0045-1805074

Josef Finsterer

引用次数: 0

Addressing pediatric traumatic brain injury in Brazil: a call for targeted prevention. 解决巴西儿童创伤性脑损伤：呼吁有针对性的预防。

IF 1.6 4区医学

Arquivos de neuro-psiquiatria Pub Date : 2025-03-01 Epub Date: 2025-04-22 DOI: 10.1055/s-0045-1806814

Gisele Sampaio Silva

引用次数: 0

Galvanic vestibular stimulation to rehabilitate postural instability in Parkinson's disease. 前庭电刺激对帕金森病患者体位不稳定的修复作用。

IF 1.6 4区医学

Arquivos de neuro-psiquiatria Pub Date : 2025-03-01 Epub Date: 2025-04-22 DOI: 10.1055/s-0045-1806812

Anna Paula Batista de Ávila Pires, Ludimila Labanca, Paulo Pereira Christo, Maurício Campelo Tavares, Jordana Carvalhais Barroso, Maria Luiza Diniz, Denise Utsch Gonçalves

{"title":"Galvanic vestibular stimulation to rehabilitate postural instability in Parkinson's disease.","authors":"Anna Paula Batista de Ávila Pires, Ludimila Labanca, Paulo Pereira Christo, Maurício Campelo Tavares, Jordana Carvalhais Barroso, Maria Luiza Diniz, Denise Utsch Gonçalves","doi":"10.1055/s-0045-1806812","DOIUrl":"10.1055/s-0045-1806812","url":null,"abstract":"Background: Galvanic vestibular stimulation (GVS) is a non-invasive technique employed to rehabilitate balance by delivering low-intensity, short-duration electrical stimulation to the mastoid bones, effectively activating the vestibulospinal tract.Objective: To evaluate the effects of GVS on balance in patients with Parkinson's disease (PD) and postural instability.Methods: In this clinical study, 25 PD patients with postural instability in the ON phase (best effect of dopaminergic medication) underwent GVS. Balance was assessed using the Berg Balance Scale (BBS), the Timed Up and Go (TUG) test, and posturography on a force platform. Electrical current intensity was progressively increased between the mastoids, starting at 1.0 mA and reaching 3.5 mA by the 6th session, with this level maintained until the 8th session. Stimulation duration began at 9 minutes in the 1st session, increased to 30 minutes by the 3rd session, and was sustained through the 8th session.Results: A blinded comparison of pre- and post-GVS evaluations demonstrated significant improvements in BBS (p = 0.00001) and TUG (p = 0.00003) scores. Posturography showed an increase in the stability limit area (p = 0.026) and the general balance index (p = 0.001).Conclusion: In the therapeutic management of postural instability in PD, GVS emerges as a promising complementary strategy for enhancing balance. Further research is needed to determine whether these improvements persist after GVS cessation.Registration of clinical trial: https://ensaiosclinicos.gov.br/rg/RBR-22j8728.","PeriodicalId":8694,"journal":{"name":"Arquivos de neuro-psiquiatria","volume":"83 3","pages":"1-8"},"PeriodicalIF":1.6,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12020501/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143960857","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}

引用次数: 0

Lateral ventricle central neurocytoma with lipidization: a case report of an underrecognized presentation. 侧脑室中枢神经细胞瘤伴脂化：一例未被充分认识的表现。

IF 1.6 4区医学

Arquivos de neuro-psiquiatria Pub Date : 2025-03-01 Epub Date: 2025-04-22 DOI: 10.1055/s-0045-1806925

Daniella Karassawa Zanoni, Osorio Lopes Abath Neto, Nitesh Shekhrajka, Márcio Luís Duarte, Leonardo Furtado Freitas

引用次数: 0

Erratum. 勘误表。

IF 1.6 4区医学

Arquivos de neuro-psiquiatria Pub Date : 2025-03-01 Epub Date: 2025-03-19 DOI: 10.1055/s-0045-1806749

引用次数: 0

Characteristics of traumatic brain injury in children and adolescents hospitalized in a Brazilian trauma reference center: a retrospective cross-sectional study. 巴西创伤参考中心住院儿童和青少年创伤性脑损伤的特点：一项回顾性横断面研究。

IF 1.6 4区医学

Arquivos de neuro-psiquiatria Pub Date : 2025-03-01 Epub Date: 2025-04-22 DOI: 10.1055/s-0045-1806743

José Roberto Tude Melo, Caio Vinicius de Almeida Chaves, Cindy Kawano, Maria Antonia Coladeti Fernandes, Reem Hussin, Jean Gonçalves de Oliveira, José Carlos Esteves Veiga

{"title":"Characteristics of traumatic brain injury in children and adolescents hospitalized in a Brazilian trauma reference center: a retrospective cross-sectional study.","authors":"José Roberto Tude Melo, Caio Vinicius de Almeida Chaves, Cindy Kawano, Maria Antonia Coladeti Fernandes, Reem Hussin, Jean Gonçalves de Oliveira, José Carlos Esteves Veiga","doi":"10.1055/s-0045-1806743","DOIUrl":"10.1055/s-0045-1806743","url":null,"abstract":"Background: Approximately 20% of victims of traumatic brain injury (TBI) in Brazil are children and adolescents, with more than 900 deaths per year.Objective: To describe the characteristics and epidemiological profile of children and adolescents with TBI in the city of São Paulo, Brazil, according to age groups and metropolitan area of occurrence of the events leading to trauma.Methods: We conducted a retrospective cross-sectional study with a review of consecutive medical records of children and adolescents with TBI hospitalized and treated at a level-1 trauma center in São Paulo between 2019 and 2023.Results: In the period proposed for the study, 196 children and adolescents suffered TBIs. They had a median age of 5 (interquartile range [IQR] 10-1.75) years and were predominantly boys (71%), of white skin color/race (55%), and coming from the north zone of the metropolitan region of São Paulo (44%). Domestic accidents were the main causes of TBI (61%), followed by traffic accidents (24%). The mean length of hospital stay was of 13 (standard deviation [SD] ± 26) days, and the in-hospital mortality rate was of 3%.Conclusion: We found a predominance of children and adolescents with TBI coming from the north zone of the metropolitan region of São Paulo, with a prevalence of falls from heights above the ground among children ≤ 9 years of age and trampling among children older than this age. Preventive actions must be established after reflections on socioeconomic issues and considering the metropolitan area where the accidents occur and the age group.","PeriodicalId":8694,"journal":{"name":"Arquivos de neuro-psiquiatria","volume":"83 3","pages":"1-8"},"PeriodicalIF":1.6,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12020493/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143974743","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}

引用次数: 0

Practical recommendations for diagnosis, management, and follow-up of Niemann-Pick type-C disease patients: a Brazilian perspective. Niemann-Pick - c型疾病患者诊断、管理和随访的实用建议：巴西视角

IF 1.6 4区医学

Arquivos de neuro-psiquiatria Pub Date : 2025-03-01 Epub Date: 2025-05-09 DOI: 10.1055/s-0045-1807714

Dafne Dain Gandelman Horovitz, André Pessoa, Marcondes Cavalcante França Junior, Roberto Giugliani, Carolina Fischinger Moura de Souza, Emília Katiane Embiruçu, Pedro Braga-Neto, Charles Marques Lourenço

{"title":"Practical recommendations for diagnosis, management, and follow-up of Niemann-Pick type-C disease patients: a Brazilian perspective.","authors":"Dafne Dain Gandelman Horovitz, André Pessoa, Marcondes Cavalcante França Junior, Roberto Giugliani, Carolina Fischinger Moura de Souza, Emília Katiane Embiruçu, Pedro Braga-Neto, Charles Marques Lourenço","doi":"10.1055/s-0045-1807714","DOIUrl":"10.1055/s-0045-1807714","url":null,"abstract":"Niemann-Pick type-C (NPC) disease is a rare genetic condition with a clinical spectrum ranging from a fatal prenatally-presenting and quickly lethal disorder to an adult-onset chronic neurodegenerative condition. Given the scarcity of information regarding NPC disease in Brazil, a group of experts decided to discuss some disease-related aspects at the national level. The present manuscript describes the results of a Brazilian consensus meeting conducted to propose recommendations for the diagnosis, management, and follow-up of NPC disease in Brazil, considering the clinical practice point of view. These recommendations include patient characteristics on clinical presentation, as systemic and neurological manifestations according to the age group and atypical manifestations; a flowchart for diagnostic confirmation, considering the Brazilian scenario; and treatment, encompassing disease-modifying therapy, supportive care, and patients' follow-up. The expert panel provided an objective basis of recommendations on NPC diagnosis and management in Brazil. The authors expect that this manuscript will help clinicians to identify, adequately treat and follow-up NPC patients in Brazil.","PeriodicalId":8694,"journal":{"name":"Arquivos de neuro-psiquiatria","volume":"83 3","pages":"1-8"},"PeriodicalIF":1.6,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12064313/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143964659","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}

引用次数: 0