Neuropsychiatry

神经精神病学
  • 文章类型: Editorial
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  • 文章类型: Journal Article
    大脑能量代谢的破坏,导致突触信号的改变,神经回路,和神经可塑性,与精神分裂症等严重精神疾病有牵连,双相情感障碍,和重度抑郁症.生酮干预在这些疾病中的治疗潜力表明代谢紊乱与疾病病理之间存在联系;然而,这些代谢紊乱的确切机制,以及代谢生酮疗法的治疗效果,仍然知之甚少。在这项研究中,我们对转录组数据进行了计算机模拟分析,以通过基因表达谱研究严重精神疾病中大脑代谢途径的扰动。我们还检查了啮齿动物或酮症细胞培养模型中相同途径的失调,将这些表达谱与在疾病状态中观察到的表达谱进行比较。我们的分析揭示了所有代谢途径的显著扰动,糖酵解的扰动最大,三羧酸(TCA)循环,和电子传递链(ETC)在所有三种疾病。此外,我们观察到疾病状态和生酮干预研究之间的一些不一致的基因表达模式,提示酮体在调节致病性代谢变化中的潜在作用。我们的发现强调了了解严重精神疾病中代谢失调的重要性,以及生酮干预在恢复代谢稳态方面的潜在治疗益处。这项研究提供了对代谢与神经精神疾病之间复杂关系的见解,并为进一步的实验研究奠定了基础,旨在了解当前转录组学发现的含义以及制定有针对性的治疗策略。
    The disruption of brain energy metabolism, leading to alterations in synaptic signaling, neural circuitry, and neuroplasticity, has been implicated in severe mental illnesses such as schizophrenia, bipolar disorder, and major depressive disorder. The therapeutic potential of ketogenic interventions in these disorders suggests a link between metabolic disturbances and disease pathology; however, the precise mechanisms underlying these metabolic disturbances, and the therapeutic effects of metabolic ketogenic therapy, remain poorly understood. In this study, we conducted an in silico analysis of transcriptomic data to investigate perturbations in metabolic pathways in the brain across severe mental illnesses via gene expression profiling. We also examined dysregulation of the same pathways in rodent or cell culture models of ketosis, comparing these expression profiles to those observed in the disease states. Our analysis revealed significant perturbations across all metabolic pathways, with the greatest perturbations in glycolysis, the tricarboxylic acid (TCA) cycle, and the electron transport chain (ETC) across all three disorders. Additionally, we observed some discordant gene expression patterns between disease states and ketogenic intervention studies, suggesting a potential role for ketone bodies in modulating pathogenic metabolic changes. Our findings highlight the importance of understanding metabolic dysregulation in severe mental illnesses and the potential therapeutic benefits of ketogenic interventions in restoring metabolic homeostasis. This study provides insights into the complex relationship between metabolism and neuropsychiatric disorders and lays the foundation for further experimental investigations aimed at appreciating the implications of the present transcriptomic findings as well as developing targeted therapeutic strategies.
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  • 文章类型: Editorial
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  • 文章类型: Case Reports
    背景:遗传性转甲状腺素蛋白淀粉样变性,由运甲状腺素蛋白基因突变引起的,进展与全身影响,并经常表现为周围神经病变。最近的研究揭示了中枢神经系统受累,以软脑膜淀粉样蛋白积累和短暂性局灶性神经系统发作为特征,显示皮质功能障碍。
    方法:一名47岁的高加索人,患有遗传性甲状腺素运载蛋白淀粉样变性,表现为运动性失语,右偏瘫,发烧,和意识状态的改变。检查排除了中风或感染。在改进的同时,尽管努力转移注意力或引入新的刺激,患者仍报告持续48小时的听觉重复现象.
    结论:这是第一个已知的病例报告,记录了归因于中枢神经系统受累的遗传性甲状腺素运载蛋白淀粉样变性。这种情况突出了当神经和精神症状重叠时患者评估和管理的复杂性。
    BACKGROUND: Hereditary transthyretin amyloidosis, caused by transthyretin gene mutations, progresses with systemic impact and often presents peripheral neuropathy. Recent research reveals central nervous system involvement, marked by leptomeningeal amyloid accumulation and transient focal neurological episodes displaying cortical dysfunction.
    METHODS: A 47-year-old Caucasian man with hereditary transthyretin amyloidosis presented with motor aphasia, right hemiparesis, fever, and an altered state of consciousness. Tests ruled out stroke or infection. While improving, the patient reported an ongoing auditory repetition phenomenon for 48 hours despite efforts to shift focus or introduce new stimuli.
    CONCLUSIONS: This represents the first known case report documenting palinacousis in hereditary transthyretin amyloidosis attributed to central nervous system involvement. This case highlights the complexities in assessment and management of patients when neurological and psychiatric symptoms overlap.
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    文章类型: Letter
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  • 文章类型: Journal Article
    功能性神经障碍(FND)是一种异质性疾病;严重的形式可能是致残的。对于严重的FND,建议多学科治疗和康复,但目前仍缺乏关于其疗效的证据,也缺乏对预后因素和恢复因素的了解.
    我们报告了严重FND住院患者队列的临床结果数据。临床总体印象改善与治疗是主要的结果指标。入院和出院措施(Euroqol生活质量措施,贝克抑郁量表,Spielberger特质焦虑量表,剑桥去个性化量表,疾病感知问卷(修订版)和功能流动性量表)报告为次要结果。
    我们描述了一个患有慢性病(平均症状持续时间9.7年)的FND队列(n=52)。入院时,有临床相关的抑郁水平,焦虑和人格解体。在出院时,大多数(43/52)患者的整体状况有所改善。流动性的措施,出院时抑郁和生活质量也有显著改善,与入院时相比,症状更容易理解,更少痛苦。患者对治疗的信心的入院测量可以预测最终的临床结果。
    住院康复最常见的结果是全球改善,即使症状是慢性和严重的,反映在身体和心理功能的可测量变化。在该患者组中看到的人格解体程度显着表明,对此类经历的常规询问可以帮助个性化FND治疗方法。患者对治疗的信心是确定临床结果的关键。
    UNASSIGNED: Functional neurological disorder (FND) is a heterogeneous condition; severe forms can be disabling. Multidisciplinary treatment and rehabilitation are recommended for severe FND, but there remains a lack of evidence for its efficacy and lack of understanding of the predictors and components of recovery.
    UNASSIGNED: We report clinical outcome data for an inpatient cohort with severe FND. Clinical Global Impression Improvement with treatment is the primary outcome measure. Admission and discharge measures (Euroqol quality of life measures, Beck Depression Inventory, Spielberger Trait Anxiety Inventory, Cambridge Depersonalisation Scale, Illness Perception Questionnaire (Revised) and Functional Mobility Scale) are reported as secondary outcomes.
    UNASSIGNED: We describe an FND cohort (n=52) with chronic illness (mean symptom duration 9.7 years). At admission, there were clinically relevant levels of depression, anxiety and depersonalisation derealisation. At the time of discharge, most (43/52) patients\' global condition had improved. Measures of mobility, depression and quality of life also significantly improved while at discharge, symptoms were experienced as more understandable and less distressing than at admission. An admission measure of patient confidence in treatment was predictive of eventual clinical outcome.
    UNASSIGNED: The most frequent outcome of inpatient rehabilitation is global improvement, even when symptoms are chronic and severe, reflected in measurable changes in both physical and psychological functioning. Significant levels of depersonalisation derealisation seen in this patient group suggest that routine enquiry into such experiences could help personalise FND treatment approaches. Patient confidence in treatment is key in determining clinical outcomes.
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  • 文章类型: Journal Article
    功能性神经障碍(FND)是神经病学和精神病学交汇的常见且致残的疾病。尽管近几十年来取得了显著进展,FND的机制仍然知之甚少,诊断工具和有效的治疗方法有限。FND的一种潜在有希望的治疗方式是虚拟现实(VR),越来越多地应用于广泛的条件,包括神经精神疾病.FND有独特的功能,其中许多表明了与之特别相关的,和潜在的功效,VR可以更好地理解和管理疾病。在这次审查中,我们描述了如何在FND的治疗和诊断中利用VR(主要关注运动FND和持续的感知姿势头晕,因为它们在文献中的突出地位),以及神经认知机制和症状现象学的阐明。首先,我们回顾了迄今为止发表的VR在FND和相关神经精神疾病中的应用。然后,我们讨论FND背后的假设机制,专注于与VR应用最相关的功能。最后,我们讨论了VR在以下方面的潜力:(1)推进机械理解,特别关注代理意识,注意和暗示,(2)克服诊断挑战和(3)开发新的治疗方式。这篇综述旨在为VR在FND中的使用提供理论基础和研究议程,这些理论基础和研究议程可能适用于或适用于其他相关疾病。
    Functional neurological disorder (FND) is a common and disabling condition at the intersection of neurology and psychiatry. Despite remarkable progress over recent decades, the mechanisms of FND are still poorly understood and there are limited diagnostic tools and effective treatments. One potentially promising treatment modality for FND is virtual reality (VR), which has been increasingly applied to a broad range of conditions, including neuropsychiatric disorders. FND has unique features, many of which suggest the particular relevance for, and potential efficacy of, VR in both better understanding and managing the disorder. In this review, we describe how VR might be leveraged in the treatment and diagnosis of FND (with a primary focus on motor FND and persistent perceptual-postural dizziness given their prominence in the literature), as well as the elucidation of neurocognitive mechanisms and symptom phenomenology. First, we review what has been published to date on the applications of VR in FND and related neuropsychiatric disorders. We then discuss the hypothesised mechanism(s) underlying FND, focusing on the features that are most relevant to VR applications. Finally, we discuss the potential of VR in (1) advancing mechanistic understanding, focusing specifically on sense of agency, attention and suggestibility, (2) overcoming diagnostic challenges and (3) developing novel treatment modalities. This review aims to develop a theoretical foundation and research agenda for the use of VR in FND that might be applicable or adaptable to other related disorders.
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  • 文章类型: Case Reports
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  • 文章类型: Case Reports
    在这个系列中,据报道,在2021年5月至2023年5月期间接受垂直袖状胃切除术(VSG)的3例患者同时发生Wernicke脑病(WE)和干脚气病.所有患者均为肥胖女性,接受垂直袖状胃切除术(VSG),无术后立即并发症。但两周后,在接下来的三十天内观察到呕吐和随后的脑病,并伴有眼球运动异常和无力。病人被转诊到神经科,由于对我们的高度怀疑,开始硫胺素替代疗法;同时,进行了诊断性神经影像学检查和血液检查.进行了神经和精神病学评估以及神经传导研究,以评估临床演变和后遗症。确诊一年后,所有患者都表现出情感和行为后遗症,顺行记忆障碍,和执行功能缺陷。两名患者符合Korsakoff综合征的标准。此外,观察到周围神经系统后遗症,所有患者均表现为感觉运动性多发性神经病。总之,韦尼克脑病需要高度的诊断怀疑,以便及时干预和预防不可逆的后遗症,这可能是毁灭性的。因此,提高医疗专业人员对这种疾病重要性的认识至关重要。
    In this case series, the simultaneous occurrence of Wernicke\'s encephalopathy (WE) and dry beriberi was reported in three patients who underwent vertical sleeve gastrectomy (VSG) between May 2021 and May 2023. All patients were obese women who underwent vertical sleeve gastrectomy (VSG) without immediate postoperative complications, but two weeks later, hyperemesis and subsequent encephalopathy with ocular movement abnormalities and weakness were observed over the following thirty days. Patients were referred to neurology, where due to the high suspicion of WE, thiamine replacement therapy was initiated; meanwhile, diagnostic neuroimaging and blood tests were conducted. Neurological and psychiatric evaluations and neuroconduction studies were performed to assess the clinical evolution and present sequelae. One year after diagnosis, all patients exhibited affective and behavioral sequelae, anterograde memory impairment, and executive functioning deficits. Two patients met the criteria for Korsakoff syndrome. Additionally, peripheral nervous system sequelae were observed, with all patients presenting with sensorimotor polyneuropathy. In conclusion, Wernicke\'s encephalopathy requires a high diagnostic suspicion for timely intervention and prevention of irreversible sequelae, which can be devastating. Therefore, raising awareness among medical professionals regarding the significance of this disease is essential.
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  • 文章类型: Journal Article
    铜是生长和发育必需的过渡金属,也是真核生物不可或缺的过渡金属。这种金属对神经元功能至关重要:它的缺乏,以及它的超负荷已经与多种神经退行性疾病如阿尔茨海默病和威尔逊病和精神病如精神分裂症有关,双相情感障碍,和重度抑郁症。铜在人类中枢神经系统(CNS)的发育和功能中起着基本作用,是在发育过程中在生理学中起关键作用的多种酶的辅因子。在这种情况下,我们认为总结中枢神经系统水平铜代谢改变的数据是及时的,这可能会影响神经精神症状的发展。我们根据作者的判断对研究进行了非系统的回顾,以提供读者对威尔逊病中神经精神症状的最重要因素的看法。我们强调,在具有相同突变的患者中,Wilson病的临床表现具有明显的异质性。这应该激发更多的研究努力,以解开环境因素在调节该疾病遗传易感性表达中的作用。
    Copper is a transition metal essential for growth and development and indispensable for eukaryotic life. This metal is essential to neuronal function: its deficiency, as well as its overload have been associated with multiple neurodegenerative disorders such as Alzheimer\'s disease and Wilson\'s disease and psychiatric conditions such as schizophrenia, bipolar disorder, and major depressive disorders. Copper plays a fundamental role in the development and function of the human Central Nervous System (CNS), being a cofactor of multiple enzymes that play a key role in physiology during development. In this context, we thought it would be timely to summarize data on alterations in the metabolism of copper at the CNS level that might influence the development of neuropsychiatric symptoms. We present a non-systematic review with the study selection based on the authors\' judgement to offer the reader a perspective on the most significant elements of neuropsychiatric symptoms in Wilson\'s disease. We highlight that Wilson\'s disease is characterized by marked heterogeneity in clinical presentation among patients with the same mutation. This should motivate more research efforts to disentangle the role of environmental factors in modulating the expression of genetic predisposition to this disorder.
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