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Assessment of possible small fiber Neuropathy in early-stage vitamin B12 deficiency using electrophysiological methods. 利用电生理方法评估早期维生素B12缺乏症可能的小纤维神经病变。
IF 1.6 4区 医学 Q4 NEUROSCIENCES Pub Date : 2025-09-01 Epub Date: 2025-09-19 DOI: 10.1055/s-0045-1811722
Elif Simin Issi

Small fiber neuropathy (SFN) affects thinly myelinated and unmyelinated fibers, often presenting with subtle clinical signs that are undetectable in routine nerve conduction studies. Vitamin B12 deficiency is a known risk factor for SFN, yet early-stage cases frequently remain undiagnosed. Sympathetic skin response (SSR) and cutaneous silent period (CSP) are noninvasive electrophysiological techniques used to assess autonomic and somatic small fiber function.The present study aimed to evaluate the diagnostic utility of SSR and CSP in detecting possible subclinical small-fiber neuropathy (pSFN) in individuals with early-stage vitamin B12 deficiency.The present observational study included 28 patients with vitamin B12 deficiency who had nonspecific complaints, Douleur Neuropathique en 4 Questions (DN4) scores < 4, and normal nerve conduction studies, along with 25 healthy controls. Electrophysiological testing involved SSR recordings from all extremities and CSP measurements from the right median and sural nerves.In the patient group, Median Nerve Cutaneous Silent Period (MN-CSP) and Tibialis Anterior -Sural Cutaneous Silent Period (TA-sural CSP) durations were significantly shorter, while termination and onset latencies were prolonged compared with controls. MN-CSP and TA-sural CSP durations demonstrated high diagnostic accuracy. Sympathetic skin response latencies were significantly prolonged in both hands and feet, indicating autonomic dysfunction. No significant differences were observed in SSR amplitudes.Sympathetic skin response and CSP are valuable tools for detecting possible subclinical SFN in vitamin B12 deficiency. Sympathetic skin response effectively identified autonomic dysfunction, while CSP provided additional diagnostic value for somatic small fiber impairment. Combining SSR and CSP may enhance early detection of pSFN in vitamin B12 deficiency and allow timely intervention.

小纤维神经病(SFN)影响薄髓鞘和无髓鞘纤维,通常表现出常规神经传导检查无法检测到的微妙临床体征。维生素B12缺乏是SFN的一个已知危险因素,但早期病例经常未被诊断出来。交感皮肤反应(SSR)和皮肤沉默期(CSP)是用于评估自主神经和躯体小纤维功能的无创电生理技术。本研究旨在评价SSR和CSP检测早期维生素B12缺乏症患者可能的亚临床小纤维神经病变(pSFN)的诊断价值。目前的观察性研究包括28例维生素B12缺乏症患者,他们有非特异性的主诉,双重神经病变4个问题(DN4)评分
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引用次数: 0
Calcitonin gene-related peptide monoclonal antibodies and medication-overuse headache: stopping excessive pain medication is still necessary. 降钙素基因相关肽单克隆抗体与药物过度使用头痛:停止过度止痛药仍然是必要的。
IF 1.6 4区 医学 Q4 NEUROSCIENCES Pub Date : 2025-09-01 Epub Date: 2025-07-28 DOI: 10.1055/s-0045-1809332
Pedro Augusto Sampaio Rocha-Filho

Medication-overuse headache affects 1 to 2% of the global population and is often associated with chronic migraine. This condition significantly impacts the lives of patients, as well as their families, and it poses a major economic burden due to lost productivity and medical costs. The present narrative review is part of a controversy session. We argue that reversing the behavior of overusing symptomatic pain medications is important for the treatment of this type of headache. To support this argument, the article reviews and critically analyzes the relevant literature on the subject.

药物过度使用头痛影响全球人口的1%至2%,通常与慢性偏头痛有关。这种情况严重影响患者及其家属的生活,并由于生产力损失和医疗费用造成重大经济负担。目前的叙述性回顾是一个有争议的会议的一部分。我们认为,扭转过度使用对症止痛药的行为对治疗这种类型的头痛很重要。为了支持这一论点,本文回顾并批判性地分析了有关这一主题的相关文献。
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引用次数: 0
A Brazilian Minamata disease? Neurologists must be aware of mercury exposure and intoxication. 巴西的水俣病?神经科医生必须注意汞暴露和中毒。
IF 1.6 4区 医学 Q4 NEUROSCIENCES Pub Date : 2025-09-01 Epub Date: 2025-09-08 DOI: 10.1055/s-0045-1811622
Gustavo Maximiano-Alves, Eder Leandro da Silva Dantas, Maria Elena Crespo-Lopez, José Luiz Martins do Nascimento

Mercury intoxication poses a significant challenge and growing threat to public health, particularly in the Amazon region. Despite a known history of neurological damage, as evidenced by Japan's Minamata disease, mercury intoxication remains underdiagnosed in Brazil. This review underscores the need for increased clinical awareness among neurologists, as mercury exposure has been linked to over 250 neurological symptoms, including cognitive impairment, cerebellar ataxia, peripheral neuropathy, and psychiatric disturbances. The Indigenous and riverside populations in the Amazon present a high prevalence of cognitive and motor deficits, tremors, and sensory disturbances, which are associated with mercury body burdens. Diagnosis relies on a combination of clinical suspicion, environmental exposure history, and biomonitoring through hair and urine analyses. Given the widespread environmental contamination and potential long-term health consequences, neurologists must be vigilant in recognizing and managing mercury-related neurotoxicity, particularly in vulnerable Brazilian populations.

汞中毒对公众健康构成重大挑战和日益严重的威胁,特别是在亚马逊地区。尽管有已知的神经损伤史,如日本的水俣病所证明的,但在巴西,汞中毒仍未得到充分诊断。这篇综述强调了提高神经学家临床意识的必要性,因为汞暴露与250多种神经系统症状有关,包括认知障碍、小脑性共济失调、周围神经病变和精神障碍。亚马逊地区的土著居民和河边居民普遍存在认知和运动障碍、震颤和感觉障碍,这些都与汞的身体负担有关。诊断依赖于临床怀疑、环境暴露史以及通过毛发和尿液分析进行生物监测的结合。鉴于广泛的环境污染和潜在的长期健康后果,神经科医生必须警惕识别和管理与汞有关的神经毒性,特别是在脆弱的巴西人群中。
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引用次数: 0
The neuroscience of music perception: a narrative review. 音乐感知的神经科学:叙述性回顾。
IF 1.6 4区 医学 Q4 NEUROSCIENCES Pub Date : 2025-09-01 Epub Date: 2025-08-31 DOI: 10.1055/s-0045-1811233
Renan Barros Domingues, Luísa Aires Domingues, Victor Rebelo Procaci, José Luiz Pedroso

The present review article explores the neuroscience of musical perception, examining the roles of specific brain regions in decoding and interpreting music. Musical perception engages multiple cortical and subcortical areas that work in an integrated manner to process musical elements such as melody, harmony, and rhythm. The paper reviews the current knowledge about the brain circuits involved, as well as pathological conditions that result in abnormalities of musical perception. In addition, the relationship between musical perception and neurological conditions such as epilepsy and Alzheimer's disease is explored. The present review is based on findings from structural and functional neuroimaging studies, neuropsychology, neurophysiology, and clinical research, aiming to show how the brain transforms music sounds into meaningful experiences and addressing pathological conditions in which this complex process may be affected, either in isolation or in association with other forms of neurological impairment.

这篇综述文章探讨了音乐感知的神经科学,研究了特定大脑区域在解码和解释音乐中的作用。音乐感知涉及多个皮层和皮层下区域,这些区域以综合的方式处理音乐元素,如旋律、和声和节奏。本文综述了目前有关大脑回路的知识,以及导致音乐感知异常的病理条件。此外,音乐感知与神经系统疾病如癫痫和阿尔茨海默病之间的关系进行了探索。本综述基于结构和功能神经影像学研究、神经心理学、神经生理学和临床研究的发现,旨在展示大脑如何将音乐声音转化为有意义的体验,并解决这一复杂过程可能受到影响的病理状况,无论是单独的还是与其他形式的神经损伤相关的。
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引用次数: 0
The cerebellum and psychiatric disorders: unraveling its role in mental health. 小脑和精神疾病:揭示其在心理健康中的作用。
IF 1.6 4区 医学 Q4 NEUROSCIENCES Pub Date : 2025-08-01 Epub Date: 2025-08-31 DOI: 10.1055/s-0045-1810408
Pedro Braga-Neto, Maria Wanessa Barbosa Dos Santos, Stephanie Suzanne de Oliveira Scott, Renato Puppi Munhoz, Luiz Eduardo Novis, José Luiz Pedroso, Orlando Graziani Povoas Barsottini

Several studies describe a strong association between structural and functional abnormalities of the cerebellum and psychiatric disorders. It is possible to find investigations especially in cases of schizophrenia, bipolar disorder, depression, anxiety disorders, attention-deficit/hyperactivity disorder (ADHD), and autism spectrum disorder (ASD). The involvement of the cerebellum in these conditions is also supported by clinical, functional, and structural imaging studies. The present narrative review aims to discuss and highlight the role of the cerebellum in these disorders, gathering evidence on the possible locations and connections of the affected cerebellar areas and their implications in the cognitive, emotional, and behavioral domains.

一些研究描述了小脑结构和功能异常与精神疾病之间的密切联系。有可能在精神分裂症、双相情感障碍、抑郁症、焦虑症、注意力缺陷/多动障碍(ADHD)和自闭症谱系障碍(ASD)的病例中找到调查。临床、功能和结构成像研究也支持小脑在这些疾病中的作用。本文旨在讨论和强调小脑在这些疾病中的作用,收集有关受影响小脑区域的可能位置和联系及其在认知、情感和行为领域中的意义的证据。
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引用次数: 0
Profile and postrehabilitation outcome of patients with vertigo in a clinic in Southern Santa Catarina. 南圣卡塔琳娜州一家诊所眩晕患者的概况和康复后结果。
IF 1.6 4区 医学 Q4 NEUROSCIENCES Pub Date : 2025-08-01 Epub Date: 2025-08-31 DOI: 10.1055/s-0045-1811175
Emanuela Hannoff Pilon, Vitor Benincá-Fernandes, Letícia Fernandes, Karina Rossa, Tatiana Pizzolotto Bruch

For the purposes of the present study, we define vertigo as the sensation of rotation of the environment or of the person moving. The demand for care for this complaint has been increasing; therefore, it is important to know the profile of patients treated with this complaint, the causes, the comorbidities, the associated factors, and the response of these individuals to rehabilitation.To analyze the epidemiological profile of patients reporting vertigo and their outcome after physiotherapeutic rehabilitation.We conducted a descriptive cross-sectional study of secondary data analysis. The sample was collected through a census in a specialized clinic in the south of the state of Santa Catarina, Brazil. Individuals were evaluated through a questionnaire developed by the authors, which covered the patient's demographic and clinical data. The statistical analysis was performed using the IBM SPSS Statistics for Windows (IBM Corp.) software, version 23.0.A total of 200 medical records were evaluated, 5 of which were excluded due to non-adherence to treatment, totaling a sample of 195 patients. Their mean age was of 51.18 ± 16.84 years, 62.6% were female subjects, and benign paroxysmal positional vertigo (BPPV) was the most prevalent cause (55.9%), with associated symptoms such as tinnitus (30.8%) and depression and/or anxiety (29.2%). Of the 195 patients, 193 responded positively to the vestibular rehabilitation treatment, and the vertigo of 58% improved after 1 session.The population older than 50 years of age is the most affected by vertigo, especially women, with BPPV as the main cause and associated symptoms such as tinnitus, depression, and anxiety. Most patients improved after the first vestibular rehabilitation session.

为了本研究的目的,我们将眩晕定义为环境旋转或人移动的感觉。对这一疾病的护理需求一直在增加;因此,重要的是要了解治疗这种疾病的患者的概况,原因,合并症,相关因素,以及这些个体对康复的反应。目的分析眩晕患者的流行病学特征及物理治疗康复后的预后。我们对二手数据分析进行了描述性横断面研究。样本是在巴西圣卡塔琳娜州南部的一家专门诊所通过人口普查收集的。通过作者开发的调查问卷对个体进行评估,调查问卷涵盖了患者的人口统计学和临床数据。统计分析使用IBM SPSS Statistics for Windows (IBM Corp.)软件,版本23.0进行。总共评估了200份医疗记录,其中5份因不坚持治疗而被排除,共计195名患者。他们的平均年龄为51.18±16.84岁,女性占62.6%,良性阵发性体位性眩晕(BPPV)是最常见的病因(55.9%),伴有耳鸣(30.8%)、抑郁和/或焦虑(29.2%)等症状。195例患者中,193例对前庭康复治疗有积极反应,58%的眩晕在1次治疗后得到改善。50岁以上的人群受眩晕的影响最大,尤其是女性,BPPV是眩晕的主要原因,伴有耳鸣、抑郁和焦虑等相关症状。大多数患者在第一次前庭康复后得到改善。
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引用次数: 0
Adrenocorticotropic hormone combined with vigabatrin as a second-line therapy for West syndrome. 促肾上腺皮质激素联合维加巴特林作为西氏综合征的二线治疗。
IF 1.6 4区 医学 Q4 NEUROSCIENCES Pub Date : 2025-08-01 Epub Date: 2025-08-20 DOI: 10.1055/s-0045-1811172
Luciana de Paula Souza, Danielle Caldas Bufara, Tallulah Spina Tensini, Sergio Antonio Antoniuk, Gustavo L Franklin, Ana Chrystina de Souza Crippa

West syndrome is an epileptic encephalopathy for which combination therapies with adrenocorticotropic hormone and vigabatrin have emerged as new treatment options.To evaluate the clinical and electroencephalographic remission rates, tolerability, and relapse rates in patients with West syndrome who failed primary treatment and underwent sequential therapy with vigabatrin and adrenocorticotropic hormone.We included 39 patients with West syndrome from 2 specialized centers, aged 2 to 120 months. The patients were treated with intramuscular tetracosactide depot added to vigabatrin and were prospectively followed up for ≥ 1 year. The outcomes were clinical, and electroencephalographic remission rates at 7 and 30 days and 1 year following combined therapy initiation, progression to other epilepsy types, therapy tolerability, and relapse rates were recorded.Of the original sample, 71% of the subjects were boys, and 87% had a known etiology. The clinical and electroencephalographic remission rates were 46.1%, 94.8% (p = 0.001), and 74.1% (p = 0.01) at 7 and 30 days, and 1 year after the initiation of combined therapy, respectively. At the 1-year follow-up, adverse effects were observed in 86.0% and the relapse rate was 21.6%. After a median follow-up of 21 months, 73.6% of the patients developed epilepsy.Combined therapy demonstrated a favorable efficacy profile in achieving clinical and electroencephalographic remission but was associated with significant seizure relapse rates in the medium term. Thus, it represents a feasible option for patients in whom initial treatment has failed.

西氏综合征是一种癫痫性脑病,促肾上腺皮质激素和维加巴特林联合治疗已成为新的治疗选择。评估初级治疗失败并接受维加巴特林和促肾上腺皮质激素序贯治疗的西氏综合征患者的临床和脑电图缓解率、耐受性和复发率。我们纳入了来自2个专科中心的39例年龄在2至120个月的West综合征患者。患者在维加巴林的基础上肌注四糖苷库治疗,前瞻性随访≥1年。结果是临床的,记录联合治疗开始后7天、30天和1年的脑电图缓解率、进展到其他癫痫类型、治疗耐受性和复发率。在原始样本中,71%的受试者是男孩,87%的人有已知的病因。联合治疗后7天、30天及1年的临床缓解率为46.1%,脑电图缓解率为94.8% (p = 0.001),脑电图缓解率为74.1% (p = 0.01)。随访1年,不良反应发生率为86.0%,复发率为21.6%。中位随访21个月后,73.6%的患者发生癫痫。联合治疗在实现临床和脑电图缓解方面显示出良好的疗效,但在中期与显著的癫痫复发率相关。因此,对于最初治疗失败的患者来说,这是一个可行的选择。
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引用次数: 0
Corticotherapy versus adrenocorticotropic hormone for treating West syndrome: a systematic review and meta-analysis. 皮质疗法与促肾上腺皮质激素治疗西综合征:系统回顾和荟萃分析。
IF 1.6 4区 医学 Q4 NEUROSCIENCES Pub Date : 2025-08-01 Epub Date: 2025-08-31 DOI: 10.1055/s-0045-1811173
Elizabeth Honorato de Farias, Anderson Matheus Pereira da Silva, Karlos Daniell Araújo Dos Santos, Altair Pereira de Melo Neto, Aishwarya Koppanatham, Júlia Cappi Aguiar Moraes Souza, Niels Pacheco-Barrios, Gabrielle de Souza Rocha, Gustavo Sousa Noleto

Although it is known that the most commonly used therapies for West syndrome (WS) are intramuscular adrenocorticotropic hormone (ACTH) and oral prednisolone, there is still controversy in the literature regarding the equivalence of their effects.We aimed to present an updated review comparing the therapeutic and adverse effects of ACTH therapy versus corticosteroids in children with West syndrome (WS).The PubMed, EMBASE, and Cochrane Central databases were searched. The outcomes of interest selected were spasm cessation on day 14 of therapy, cessation of hypsarrhythmia and adverse effects such as weight gain, infection, irritability, and hypertension. Studies were reviewed in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, and a meta-analysis was performed. We compared the results using the risk ratio (RR) and odds ratio (OR). for the binary outcomes, with 95% confidence intervals (CI) and a random-effects model. Statistical analysis was performed using RevMan 5.1.7.Compared with corticoids, ACTH was associated with a significant increase in weight (RR: 1.41; 95% CI: 1.01-1.97; p = 0.04). There was no significant difference in cessation of spasms on day 14 (OR: 0.91; 95% CI: 0.47-1.47; p = 0.79), hypsarrhythmia (OR: 0.97; 95% CI: 0.22-4.34), irritability (RR: 0.78; 95% CI: 0.30-1.99), hypertension (RR: 0.64; 95% CI: 0.35-1.15; p = 0.14), and infection (RR: 0.69; 95% CI: 0.19-2.50; p = 0.57).This study provides robust evidence regarding the safety and efficacy of ACTH or corticoids in children with WS. However, the significant heterogeneity between studies restricts the analysis, emphasizing the need for additional research to assess the best WS treatment option.

虽然已知最常用的治疗西氏综合征(WS)的方法是肌内促肾上腺皮质激素(ACTH)和口服强的松龙,但文献中对其效果的等效性仍存在争议。我们的目的是发表一篇最新的综述,比较ACTH治疗与皮质类固醇治疗对儿童West综合征(WS)的治疗和不良反应。检索PubMed、EMBASE和Cochrane Central数据库。研究结果包括治疗第14天痉挛停止、低心律失常停止以及体重增加、感染、易怒和高血压等不良反应的停止。根据系统评价和荟萃分析(PRISMA)指南的首选报告项目对研究进行审查,并进行荟萃分析。我们使用风险比(RR)和优势比(OR)对结果进行比较。对于二元结果,采用95%置信区间(CI)和随机效应模型。采用RevMan 5.1.7软件进行统计分析。与皮质激素相比,ACTH与体重显著增加相关(RR: 1.41; 95% CI: 1.01-1.97; p = 0.04)。在第14天痉挛停止(OR: 0.91; 95% CI: 0.47-1.47; p = 0.79)、心律失常(OR: 0.97; 95% CI: 0.22-4.34)、烦躁(RR: 0.78; 95% CI: 0.30-1.99)、高血压(RR: 0.64; 95% CI: 0.35-1.15; p = 0.14)和感染(RR: 0.69; 95% CI: 0.19-2.50; p = 0.57)方面,两组间无显著差异。本研究为WS患儿ACTH或皮质激素的安全性和有效性提供了强有力的证据。然而,研究之间的显著异质性限制了分析,强调需要进一步的研究来评估WS的最佳治疗方案。
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引用次数: 0
On the natural history of Charcot-Marie-Tooth disease in children and adolescents. 关于儿童和青少年腓骨肌萎缩症的自然历史。
IF 1.6 4区 医学 Q4 NEUROSCIENCES Pub Date : 2025-08-01 Epub Date: 2025-08-25 DOI: 10.1055/s-0045-1810624
Francisco de Assis Aquino Gondim
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引用次数: 0
Which are the options and dosages for clobazam shortages on epilepsy treatment? Review of literature and survey of specialists. 氯巴唑治疗癫痫短缺有哪些选择和剂量?文献回顾和专家调查。
IF 1.6 4区 医学 Q4 NEUROSCIENCES Pub Date : 2025-08-01 Epub Date: 2025-09-08 DOI: 10.1055/s-0045-1811235
Lécio Figueira Pinto, Guilherme Simone Mendonça, Carlos Alberto Mantovani Guerreiro

Clobazam (CLB) has been an established treatment for epilepsy since the 1970s, with a broad spectrum. It is frequently used as add on therapy for refractory patients. Furthermore, it is different from classic benzodiazepines (BZD) for containing nitrogen atoms in 1 and 5 positions of B ring (other are 1.4-BZD). This explains why CLB has a better tolerability and a lower chance of causing sedation, being an excellent option for epilepsy treatment compared with other BZDs. Evidence argues against the development of CLB tolerance in most patients. Antiseizure medication shortages have been reported by many countries, including the one studied here. Shortages make treatment harder, increase the need for extra clinical appointments, for orientation and medication changes, increase medication errors, decrease adherence, and cause insecurity. A literature review showed scarce evidence of alternatives, with a wide variation in dosage equivalence. A survey of specialists revealed that switch appropriateness was deemed inadequate by the majority, due to risk of seizure worsening and side effects. Clonazepam and nitrazepam were the most used BZDs, but there was great variation for clonazepam dosages (0.25-2 mg, commonly 1 per 10 mg of CLB). Better consensus was obtained for nitrazepam (5 per 10 mg of CLB). Gradual tapering of CLB, with concomitant increase of clonazepam or nitrazepam under close supervision, is advised. It is important to assess tolerability and the need for increased dosage. As CLB is an essential tool in the epilepsy armamentarium, shortages pose great risk to the patients. Governments and society must create mechanisms to prevent shortages of critical and unique medications.

氯巴唑(Clobazam, CLB)自20世纪70年代以来一直是一种广泛的癫痫治疗方法。它经常被用作难治性病人的附加治疗。此外,它与经典的苯二氮卓类药物(BZD)不同的是,它在B环的1位和5位含有氮原子(其他为1.4-BZD)。这就解释了为什么CLB具有更好的耐受性和更低的镇静机会,与其他BZDs相比,CLB是治疗癫痫的绝佳选择。证据表明,大多数患者不会产生CLB耐受性。许多国家都报告了抗癫痫药物短缺,包括这里研究的国家。药物短缺使治疗更加困难,增加了额外临床预约、定向和药物更换的需要,增加了药物错误,降低了依从性,并造成不安全。一篇文献综述显示,替代品的证据很少,剂量等效性差异很大。一项专家调查显示,由于癫痫发作恶化和副作用的风险,大多数人认为转换适当性不足。氯硝西泮和硝西泮是使用最多的BZDs,但氯硝西泮的剂量差异很大(0.25-2 mg,通常为1 / 10 mg CLB)。硝西泮(5 / 10mg CLB)的一致性更好。建议在密切监督下逐渐减少CLB,同时增加氯硝西泮或硝西泮的剂量。评估耐受性和增加剂量的必要性是很重要的。由于CLB是癫痫病治疗中心必不可少的工具,缺乏CLB会给患者带来很大的风险。政府和社会必须建立机制,防止关键和独特药物的短缺。
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