neurocognitive disorders

神经认知障碍
  • 文章类型: Review
    背景:胆碱能和谷氨酸能药物的试验改善了老年精神分裂症患者的认知和记忆。多奈哌齐是一种乙酰胆碱酯酶抑制剂,可通过预防轻度至中度痴呆患者海马乙酰胆碱的突触后降解来改善认知。多奈哌齐被归因于一些副作用,尤其是胃肠道症状.然而,心血管不良反应并不常见,因为关于多奈哌齐诱导的心动过缓的文献仍然缺乏.
    方法:因此,我们介绍了一例70岁的西班牙裔女性,其既往有精神分裂症精神病史,在住院病房开始服用小剂量多奈哌齐后出现心动过缓和晕厥,随后停止治疗.她之前没有心血管症状或诊断。
    结论:考虑到对接受多奈哌齐治疗的患者没有基线心脏监测要求指南,建议在开始使用乙酰胆碱酯酶抑制剂之前进行预评估心电图.最后,多奈哌齐开始治疗后至少前72小时内常规监测生命体征可能是所有精神科医生的积极做法.将这种做法扩展到住院和门诊服务设置将是值得的。
    BACKGROUND: Trials of cholinergic and glutamatergic agents have improved cognition and memory for the geriatric schizophrenic population. Donepezil is an acetylcholinesterase inhibitor that improves cognition by preventing postsynaptic degradation of hippocampal acetylcholine in patients with mild-to-moderate dementia. Donepezil has been attributed to some adverse effects, especially gastrointestinal symptoms. However, cardiovascular adverse effects are not common as there remains a dearth of literature regarding donepezil-induced bradycardia.
    METHODS: Hence, we present the case of a 70-year-old Hispanic female with past psychiatry history of schizophrenia who developed bradycardia and syncope following the commencement of low-dose donepezil in the inpatient unit and subsequent resolution with cessation. She had no prior cardiovascular symptoms or diagnosis.
    CONCLUSIONS: Considering there is no baseline cardiac monitoring requirement guideline for patients on Donepezil treatment, pre-assessment electrocardiogram is advised before the commencement of acetylcholinesterase inhibitors. Finally, routine monitoring of vital signs for at least the first 72 hours following the start of donepezil might be good proactive practice for all psychiatrists. Extending this practice to inpatient and outpatient service settings will be worthwhile.
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  • 文章类型: Case Reports
    PU.1突变的无丙种球蛋白血症(PU。MA)代表了最近描述的由SPI1基因突变引起的异丙种球蛋白血症的常染色体显性形式。该基因编码PU.1先锋转录因子,对单核细胞的成熟很重要,B淋巴细胞,和传统的树突状细胞。只有6例PU。MA,表现为慢性鼻肺和全身性肠病毒感染,之前已经描述过了。越来越多的文献证据表明,SPI1突变之间可能存在关系,小胶质细胞吞噬功能障碍,和阿尔茨海默病(AD)的发展。
    我们介绍了一名非近亲婚姻出生的白人女性患者,在开始免疫球蛋白替代疗法时,他在15岁时被诊断出患有无丙种球蛋白血症。在接下来的十七年里,她因反复呼吸道和肠道感染而接受治疗。33岁时,建立了乳糜泻的诊断。五年后进行性认知恶化,不稳定的步态,言语障碍,和行为的变化发展。综合微生物调查呈阴性,排除可能的感染性病因。脑部核磁共振,18FDG-PET-CT,和神经心理学测试提示诊断AD的额叶变体。临床外显子组测序显示,在SPI1基因的外显子4中存在一个新的移码杂合变体c.441dup。尽管有强化治疗,患者在首次出现神经系统症状几个月后去世。
    我们描述PU的第一种情况。表现为快速进行性神经认知恶化的MA患者。小胶质细胞功能障碍在SPI1突变患者中的可能作用可以解释他们对神经退行性疾病的易感性,从而突出了遗传检测在先天性免疫错误患者中的重要性。自PU。MA代表一种新描述的无丙种球蛋白血症,我们的病例扩展了与SPI1突变相关的表现谱.
    PU.1-mutated agammaglobulinemia (PU.MA) represents a recently described autosomal-dominant form of agammaglobulinemia caused by mutation of the SPI1 gene. This gene codes for PU.1 pioneer transcription factor important for the maturation of monocytes, B lymphocytes, and conventional dendritic cells. Only six cases with PU.MA, presenting with chronic sinopulmonary and systemic enteroviral infections, have been previously described. Accumulating literature evidence suggests a possible relationship between SPI1 mutation, microglial phagocytic dysfunction, and the development of Alzheimer\'s disease (AD).
    We present a Caucasian female patient born from a non-consanguineous marriage, who was diagnosed with agammaglobulinemia at the age of 15 years when the immunoglobulin replacement therapy was started. During the following seventeen years, she was treated for recurrent respiratory and intestinal infections. At the age of 33 years, the diagnosis of celiac-like disease was established. Five years later progressive cognitive deterioration, unstable gait, speech disturbances, and behavioral changes developed. Comprehensive microbiological investigations were negative, excluding possible infective etiology. Brain MRI, 18FDG-PET-CT, and neuropsychological testing were suggestive for a diagnosis of a frontal variant of AD. Clinical exome sequencing revealed the presence of a novel frameshift heterozygous variant c.441dup in exon 4 of the SPI1 gene. Despite intensive therapy, the patient passed away a few months after the onset of the first neurological symptoms.
    We describe the first case of PU.MA patient presenting with a rapidly progressive neurocognitive deterioration. The possible role of microglial dysfunction in patients with SPI1 mutation could explain their susceptibility to neurodegenerative diseases thus highlighting the importance of genetic testing in patients with inborn errors of immunity. Since PU.MA represents a newly described form of agammaglobulinemia, our case expands the spectrum of manifestations associated with SPI1 mutation.
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  • 文章类型: Case Reports
    与谷氨酸脱羧酶抗体相关的神经综合征的患病率正在增加。虽然认知障碍是这种情况的常见特征,它很少成为主要症状。在这项研究中,我们讨论了一例与谷氨酸脱羧酶谱系障碍相关的难治性痴呆。有趣的是,该病例在自体造血干细胞移植后显示出良好的结局。我们还对使用这种治疗方法治疗这种疾病的当前文献进行了深入的回顾。
    The prevalence of neurological syndromes associated with antibodies to glutamic acid decarboxylase is increasing. While cognitive impairment is a common feature of this condition, it seldom emerges as the primary symptom. In this study, we discuss a case of refractory dementia associated with the glutamic acid decarboxylase spectrum disorder. Interestingly, this case showed a favorable outcome following autologous hematopoietic stem cell transplantation. We also provide an in-depth review of the current literature on the use of this therapeutic approach for the treatment of this disease.
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  • 文章类型: Case Reports
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  • 文章类型: Case Reports
    背景:在将病态过程归类为“精神障碍”之前,对于可能的临床表现,必须牢记非精神病病因的早期诊断的重要性.出于这个原因,我们会试着反映这个事实,尽管众所周知,但似乎有必要记住这一点,因为它可以在医院环境的紧急情况下被忽视,由于诊断不完整而导致的后果以及对患者的潜在威胁生命的风险。
    方法:一名13岁的女性青少年,他表现出急性的临床表现提示分离性疾病。她要求入院进行诊断-治疗澄清,和神经影像学发现导致脑干肿瘤病变的初步诊断,最后,作为所述位置的血管起源的缺血性病变。
    结论:通过临床图片的不同心理和非心理病因提出了鉴别诊断,但是医院儿科服务的干预对于定位和明确的隶属关系是必要的,考虑到尽管有心理治疗和精神药理学干预措施,但在经历了短暂的演变后,人们怀疑非精神疾病。
    结论:通过对我们医院发生的临床病例的介绍和回顾,我们必须坚持对病人采取适当的全面方法,尤其是儿童-青少年人口,当面临急性临床表现并且没有相关身体水平的先前研究时。
    BACKGROUND: Before cataloguing a morbid process as a \"mental disorder\", it is essential to bear in mind the importance of early diagnosis of causes of non-psychiatric origin for a possible clinical presentation. For this reason, we will try to reflect this fact, which it seems necessary to remember even though it is well known, since it can be overlooked in emergency situations in the hospital setting, with the consequences derived from an incomplete diagnosis and with the potential life-threatening risk for the patient.
    METHODS: A 13-year-old female adolescent, who presented an acute clinical picture suggestive of dissociative disorder. She required hospital admission for diagnostic-therapeutic clarification, and neuroimaging findings led to an initial diagnosis of a neoplastic lesion in the brain stem and, finally, as ischaemic lesion of vasculitic origin in said location.
    CONCLUSIONS: A differential diagnosis was proposed through the different psychic and non-psychic aetiologies of the clinical picture, but the intervention of the hospital\'s paediatric service was necessary for orientation and definitive affiliation, given the suspicion of non-psychiatric illness after a torpid evolution in spite of psychotherapeutic and psychopharmacological interventions.
    CONCLUSIONS: Through the presentation and review of a clinical case that happened in our hospital, we must insist on an adequate comprehensive approach to the patient, especially with the child-adolescent population, when faced with an acute clinical presentation and without previous studies at a relevant physical level.
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  • 文章类型: Case Reports
    背景:Paraphilias是反复发作的幻想,思想,以及给患者和周围人带来痛苦的行为。此病例报告详细介绍了以强迫性行为管理多个亲友的挑战。
    方法:一名48岁的马来人出现强迫性行为,包括偷窥狂,frotteurism,和暴露狂的行为,多年来逐步增加,伴随着高估的狂热思想。尽管职业和社会上的功能障碍程度很高,没有明显的精神病患者,躁狂,或抑郁症状。有机检查并不引人注目,他被诊断出患有多个副嗜血杆菌.开始用选择性5-羟色胺再摄取抑制剂治疗,在心理上,他接受了强迫性行为特有的技术。
    结论:尽管文献中很少见,亲热障碍和强迫性行为对患者及其家人来说都非常痛苦,彻底的生物心理学调查对于确保可逆原因不被忽视至关重要。
    BACKGROUND: Paraphilias are recurrent and arousing fantasies, thoughts, and behaviors that cause distress to sufferers and surrounding people. This case report details the challenge of managing multiple paraphilias with compulsive sexual behavior.
    METHODS: A 48-year-old Malay man presented with compulsive sexual behavior, encompassing voyeuristic, frotteurism, and exhibitionistic behavior, increasing progressively over the years, with accompanying overvalued ideas of erotomania. Despite the high level of dysfunction occupationally and socially, there were no apparent psychotic, manic, or depressive symptoms. An organic workup was unremarkable, and he was diagnosed with multiple paraphilias. Treatment with selective serotonin reuptake inhibitors was commenced, and psychologically he was managed with techniques specific to compulsive sexual behavior.
    CONCLUSIONS: Though rare in the literature, both paraphilic disorders and compulsive sexual behaviors are very distressing to sufferers and their families alike, and thorough biopsychological investigations are essential to ensure reversible causes are not overlooked.
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  • 文章类型: Journal Article
    UNASSIGNED:我们的研究旨在描述“如何”和“为什么”在长期护理(LTC)社区中应用以人为本的护理(PCC)方法来管理主要神经认知障碍患者的反应行为(RB)。
    UNASSIGNED:在魁北克LTC社区的背景下采用了描述性整体单案例研究设计,使用半结构化访谈和对有经验的护理提供者与有RB的客户合作的非参与式观察,拍摄物理环境,并访问LTC社区公共网站上提供的文档。使用主题内容分析进行数据分析。
    UNASSIGNED:这些发现深入了解了考虑LTC社区的多个组成部分以应用PCC方法来管理RB的重要性,包括a)创造一个家庭般的环境,B)发展与客户的治疗关系,c)让客户参与有意义的活动,d)通过提供基本资源来增强护理提供者的能力。
    UNASSIGNED:在LTC社区中应用和实施PCC方法来管理客户的RB是一个长期的多维过程,需要坚实的基础。
    UNASSIGNED:这些发现强调了考虑与人相关的多种因素的重要性,环境,以及在LTC社区内应用PCC方法来管理RB的有意义的活动。
    UNASSIGNED: Our study aimed to describe \"how\" and \"why\" the person-centered care (PCC) approach was applied within a long-term care (LTC) community to manage responsive behaviors (RBs) in individuals with major neurocognitive disorders.
    UNASSIGNED: A descriptive holistic single case study design was employed in the context of an LTC community in Quebec, using semi-structured interviews and non-participatory observations of experienced care providers working with clients with RBs, photographing the physical environment, and accessing documents available on the LTC community\'s public website. A thematic content analysis was used for data analysis.
    UNASSIGNED: The findings generated insight into the importance of considering multiple components of the LTC community to apply the PCC approach for managing RBs, including a) creating a homelike environment, b) developing a therapeutic relationship with clients, c) engaging clients in meaningful activities, and d) empowering care providers by offering essential resources.
    UNASSIGNED: Applying and implementing the PCC approach within an LTC community to manage clients\' RBs is a long-term multi-dimensional process that requires a solid foundation.
    UNASSIGNED: These findings highlight the importance of considering multiple factors relevant to persons, environments, and meaningful activities to apply the PCC approach within LTC communities to manage RBs.
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  • 文章类型: Case Reports
    背景:快速进展性痴呆(RPDs)是指在数周至数月的时间内亚急性进展的痴呆。原发性干燥综合征(pSS)是一种自身免疫性疾病,可影响任何器官系统,并可能具有广泛的临床特征,可能模仿过多的医疗状况,在极少数情况下可能表现为RPD。我们描述了一个独特的PSS案例,其中快速进展性痴呆(RPD)是第一疾病表现,患者的放射学和脑电图结果与克雅氏病(CJD)一致.
    方法:这里,我们报告了一名58岁女性,她在入院前的最后6个月内出现认知障碍并迅速恶化.脑MRI和EEG提示CJD。然而,CSF14-3-3和tau/磷酸tau比率在正常范围内,因此考虑了其他诊断。验血对抗核抗体阳性有重要意义,抗ENA和抗SSA和唇活检与pSS一致。患者开始静脉注射类固醇,然后口服泼尼松锥度,这防止了进一步恶化。
    结论:此罕见病例扩大了pSS的神经系统表现,并强调了在RPDs的鉴别诊断中考虑pSS的重要性,以避免误诊并及时提供适当的治疗。
    BACKGROUND: Rapidly progressive dementias (RPDs) are dementias that progress subacutely over a time period of weeks to months. Primary Sjögren\'s syndrome (pSS) is an autoimmune disease that can affect any organ system and may present with a wide range of clinical features that may mimic a plethora of medical conditions and in rare cases may manifest as RPD. We describe a unique case of pSS, in which rapidly progressive dementia (RPD) was the first disease manifestation and the patient\'s radiological and electroencephalogram findings were compatible with Creutzfeldt-Jakob disease (CJD).
    METHODS: Here, we report a 58-year-old woman who presented with cognitive impairment rapidly deteriorating over the last 6 months prior to admission. Brain MRI and EEG were indicative of CJD. However, CSF 14-3-3 and tau/phospho tau ratio were within normal limits and therefore alternative diagnoses were considered. Blood tests were significant for positive antinuclear antibodies, anti-ENA and anti-SSA and a lip biopsy was consistent with pSS. The patient was started on intravenous steroids followed by oral prednisone taper, which prevented further deterioration.
    CONCLUSIONS: This rare case expands the spectrum of neurological manifestations in pSS and highlights the importance of considering pSS in the differential diagnosis of RPDs in order to avoid misdiagnosis and provide appropriate treatment in a timely fashion.
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  • 文章类型: Journal Article
    很早,广泛的,准确,并且具有成本效益的神经认知障碍的临床诊断将对老年人及其家庭具有优势,但也为医疗保健系统的可持续性和性能。BRAINCODE是一种评估老年人认知障碍的技术,区分正常和病理性大脑状况,基于脑电图生物标志物评估。本文将讨论BRAINCODE的试点设计,旨在验证其功效,为未来的研究提供指导,并允许其在SHAPES平台上的整合。预计BRAINCODE会定期进行临床诊断和神经心理测试,以区分“正常”和病理性认知衰退,并区分有/没有主观认知抱怨的老年人的轻度认知损害和痴呆。
    An early, extensive, accurate, and cost-effective clinical diagnosis of neurocognitive disorders will have advantages for older people and their families, but also for the health and care systems sustainability and performance. BRAINCODE is a technology that assesses cognitive impairment in older people, differentiating normal from pathologic brain condition, based in an EEG biomarkers evaluation. This paper will address BRAINCODE\'s pilot design, which intends to validate its efficacy, to provide guidelines for future studies and to allow its integration on the SHAPES platform. It is expected that BRAINCODE confirms a regular clinical diagnosis and neuropsychologic tests to discriminate \'normal\' from pathologic cognitive decline and differentiates mild cognitive impairment from dementia in older adults with/without subjective cognitive complains.
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  • 文章类型: Case Reports
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