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Annals of Neurology

2023

本篇文献由机器智能翻译

2023年2月速览
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  • Strengthening population medicine to promote public health

    We are all in the position of the farmer. If we plant a good seed, we reap a good harvest. If our seed is poor and full of weeds, we reap a useless crop. If we plant nothing at all, we harvest nothing at all.   I want the future to be better than the past. I don’t want it contaminated by the mistakes and errors with which history is filled. We should all be concerned about the future because that is where we will spend the reminder of our lives. The past is gone and static. Nothing we can do will change it. The future is before us and dynamic. Everything we do will effect it.

    [REF: Duffau H. Awake Mapping With Transopercular Approach in Right Insular-Centered Low-Grade Gliomas Improves Neurological Outcomes and Return to Work. Neurosurgery. 2022;91(1):182-190. doi:10.1227/neu.0000000000001966] PMID: 35445665

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  • NINDS Corner: The Helping to End Addiction Long-Term Initiative and Pain Neurology

    NINDS Corner:帮助戒除成瘾的长期主动性与疼痛神经学

    Chronic pain disorders are leading causes of disability worldwide.1 In the United States, more than 50 million people suffer with pain daily or on most days,2 and those most severely impacted also have a heavier burden of medical comorbidities.3 The current epidemic of overdose deaths in the United States originated from the overprescribing of highly addictive opioids to treat pain amidst a landscape of woefully inadequate treatment alternatives. The tragedy has been compounded by the explosion of overdose deaths due to the influx of fentanyl onto the illicit drug market.

    慢性疼痛障碍是世界范围内导致残疾的主要原因。1在美国,每天或大部分时间有5000多万人遭受疼痛,2受影响最严重的人也有更重的医疗合并症负担。3美国目前过量死亡的流行源于在治疗方法严重不足的情况下过度开出高度上瘾的阿片类药物来治疗疼痛。由于芬太尼涌入非法毒品市场,过量死亡人数激增,加剧了这一悲剧。

    REF: Nigro C, Koroshetz WJ. NINDS Corner: The Helping to End Addiction Long-Term Initiative and Pain Neurology. Ann Neurol. 2023;93(2):213-215. doi:10.1002/ana.26567 PMID: 36479980

  • The AUPN: Past, Present, and Future

    AUPN:过去、现在和未来

    The Association of University Professors of Neurology (AUPN) may be the oldest American neurological society you have never heard of. It began in 1968 as an organization of neurology department chairs to inform and shape neurological education, clinical practice and research, and to be a combined voice for neurology leaders to influence policy.

    大学神经学教授协会(AUPN)可能是你从未听说过的最古老的美国神经学协会。它成立于1968年,最初是一个由神经科主任组成的组织,旨在为神经学教育、临床实践和研究提供信息和塑造信息,并成为神经病学领导人影响政策的联合声音。

    REF: Greenfield LJ Jr. The AUPN: Past, Present, and Future. Ann Neurol. 2023;93(2):216-219. doi:10.1002/ana.26564 PMID: 36468185

  • In Memoriam: Daniel B. Drachman

    纪念:丹尼尔·B·德拉赫曼

    Daniel B. Drachman, a world-renowned Johns Hopkins neurologist and neuroscientist whose landmark discoveries formed the foundation for much of today's research and treatment of neuromuscular diseases, died on October 24. He was 90. Many of his former post-docs and junior faculty mentees in the Hopkins Neuromuscular Division became renowned neuromuscular specialists and clinician scientists. His mentoring style was that he insisted that his mentees find solutions to important problems. He also taught how to structure research work, approaching enigmas by detailed analyses and by utilizing expert advice from scientists in neighboring fields. He was a translational medicine researcher before the term was invented. He used to say, “you need to start with the patient and careful observations about your patient should dictate the direction of laboratory research”. In summary, Daniel Drachman was a role model of a clinician scientist in the neuromuscular field.

    世界著名的约翰·霍普金斯大学神经学家和神经学家丹尼尔·B·德拉赫曼于10月24日去世,他的里程碑式的发现奠定了当今大部分神经肌肉疾病研究和治疗的基础。他90岁了。 他在霍普金斯神经肌肉分部的许多博士后和初级教员导师都成为了著名的神经肌肉专家和临床科学家。他的指导风格是,他坚持让他的学员找到重要问题的解决方案。他还教授如何组织研究工作,通过详细的分析和利用邻近领域科学家的专家建议来接近谜团。在这个术语发明之前,他是一名转化医学研究人员。他曾经说过:“你需要从病人开始,对病人的仔细观察应该决定实验室研究的方向。”总而言之,丹尼尔·德拉赫曼是神经肌肉领域临床科学家的榜样。

    REF: McArthur JC, Toyka K, Hoke A. In Memoriam: Daniel B. Drachman. Ann Neurol. 2023;93(2):220-221. doi:10.1002/ana.26565 PMID: 36468201

  • Sports Concussion and Chronic Traumatic Encephalopathy: Finding a Path Forward

    运动震荡与慢性创伤性脑病:寻找前进的道路

    Sports concussion has recently assumed special importance because of the widely publicized entity of chronic traumatic encephalopathy (CTE). Identified primarily in former contact sports athletes with repeated mild traumatic brain injury (mTBI), CTE is a distinct tauopathy that can only be diagnosed postmortem and for which no specific treatment is available. Although the hazards of repeated mTBI are generally acknowledged, a spirited controversy has developed because a firm link between sports concussion and CTE has been questioned. We briefly review the history of CTE, discuss areas of uncertainty, and offer suggestions to assist neurologists confronting these issues and advance understanding of this vexing problem.

    由于慢性创伤性脑病(CTE)的广泛报道,运动性脑震荡最近具有特殊的重要性。CTE主要见于患有反复轻度创伤性脑损伤(MTBI)的前接触性运动运动员,是一种独特的直立性疾病,只能在死后才能诊断出来,而且没有特殊的治疗方法。尽管重复的mTBI的危害是公认的,但由于运动性脑震荡和CTE之间的确切联系受到了质疑,一场激烈的争论已经展开。我们简要回顾了CTE的历史,讨论了不确定的领域,并提供了建议,以帮助神经科医生面对这些问题,并增进对这一棘手问题的理解。

    REF: Kelly JP, Priemer DS, Perl DP, Filley CM. Sports Concussion and Chronic Traumatic Encephalopathy: Finding a Path Forward. Ann Neurol. 2023;93(2):222-225. doi:10.1002/ana.26566 PMID: 36504163

  • Midazolam Prevents the Adverse Outcome of Neonatal Asphyxia

    咪达唑仑预防新生儿窒息的不良结局

    Birth asphyxia (BA) is the most frequent cause of neonatal death as well as central nervous system (CNS) injury. BA is often associated with neonatal seizures, which only poorly respond to anti-seizure medications and may contribute to the adverse neurodevelopmental outcome. Using a non-invasive rat model of BA, we have recently reported that the potent benzodiazepine, midazolam, prevents neonatal seizures in ~50% of rat pups. In addition to its anti-seizure effect, midazolam exerts anti-inflammatory actions, which is highly relevant for therapeutic intervention following BA. The 2 major aims of the present study were to examine (1) whether midazolam reduces the adverse outcome of BA, and (2) whether this effect is different in rats that did or did not exhibit neonatal seizures after drug treatment. we find that the disease-modifying effect of midazolam identified here strongly suggests that this drug provides a valuable option for improving the treatment and outcome of BA.

    出生窒息(BA)是新生儿死亡和中枢神经系统(CNS)损伤最常见的原因。BA通常与新生儿癫痫有关,而新生儿癫痫对抗癫痫药物的反应很差,并可能导致不利的神经发育结果。利用非侵入性的大鼠BA模型,我们最近报道了有效的苯二氮卓类药物咪达唑仑可以防止约50%的大鼠幼鼠发生新生儿癫痫。除了抗癫痫作用外,咪达唑仑还具有抗炎作用,这与BA后的治疗干预密切相关。本研究的两个主要目的是检查(1)咪达唑仑是否减少BA的不良结果,以及(2)在药物治疗后出现或没有出现新生儿癫痫发作的大鼠中,这种效果是否不同。 我们发现,咪达唑仑的疾病改善作用强烈表明,该药物为改善BA的治疗和预后提供了一个有价值的选择。

    REF: Welzel B, Schmidt R, Johne M, Löscher W. Midazolam Prevents the Adverse Outcome of Neonatal Asphyxia. Ann Neurol. 2023;93(2):226-243. doi:10.1002/ana.26498 PMID: 36054632

  • Heterozygous Seryl-tRNA Synthetase 1 Variants Cause Charcot–Marie–Tooth Disease

    丝氨酰-tRNA合成酶1杂合变异导致夏科-玛丽-牙病

    Despite the increasing number of genes associated with Charcot-Marie-Tooth (CMT) disease, many patients currently still lack appropriate genetic diagnosis for this disease. Autosomal dominant mutations in aminoacyl-tRNA synthetases (ARSs) have been implicated in CMT. Here, we describe causal missense mutations in the gene encoding seryl-tRNA synthetase 1 (SerRS) for 3 families affected with CMT. Our findings suggest the heterozygous SerRS variants identified represent a novel cause for autosomal dominant CMT. Mutant SerRS proteins are known to impact various molecular and cellular functions. Our findings provide significant advances on the current understanding of the molecular mechanisms associated with ARS-related CMT

    尽管与Charcot-Marie-Tooth(CMT)病相关的基因越来越多,但许多患者目前仍然缺乏对该疾病的适当基因诊断。常染色体显性突变的氨基酰-tRNA合成酶(ARSS)已被认为与CMT有关。在这里,我们描述了3个CMT家系中编码丝氨酰-tRNA合成酶1(SerRs)基因的原因错义突变。 我们的发现表明,发现的杂合性SerRS变异代表了常染色体显性遗传性CMT的新原因。已知突变的SerRS蛋白影响多种分子和细胞功能。我们的发现为目前了解与ARS相关的CMT的分子机制提供了重要的进展

    REF: He J, Liu XX, Ma MM, et al. Heterozygous Seryl-tRNA Synthetase 1 Variants Cause Charcot-Marie-Tooth Disease. Ann Neurol. 2023;93(2):244-256. doi:10.1002/ana.26501 PMID: 36088542

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