Neurologic disorders

神经系统疾病
  • 文章类型: Journal Article
    神经系统疾病通常表现为精神症状,深刻影响患者的福祉和治疗结果。这篇综合综述研究了与阿尔茨海默病相关的精神病学表现,额颞叶痴呆(FTD),帕金森病,多发性硬化症(MS),中风,癫痫,亨廷顿病,肌萎缩侧索硬化(ALS),创伤性脑损伤(TBI),多系统萎缩(MSA)。主要的精神症状包括躁动,抑郁症,焦虑,冷漠,幻觉,冲动,和侵略这些疾病。此外,治疗这些症状的伦理考虑是最重要的,特别是关于基因检测的影响,临终讨论,知情同意,以及公平获得创新治疗的机会。有效的管理需要跨学科的合作,个性化干预,并专注于患者的自主性。了解神经系统疾病的精神负担对于提高患者的生活质量至关重要。需要进一步的研究来阐明潜在的机制并制定有针对性的干预措施。这篇评论强调了全面评估和道德治疗实践对有效解决精神病表现的重要性。
    Neurological diseases often manifest with psychiatric symptoms, profoundly impacting patients\' well-being and treatment outcomes. This comprehensive review examines the psychiatric manifestations associated with Alzheimer\'s disease, frontotemporal dementia (FTD), Parkinson\'s disease, multiple sclerosis (MS), stroke, epilepsy, Huntington\'s disease, amyotrophic lateral sclerosis (ALS), traumatic brain injury (TBI), and multiple system atrophy (MSA). Key psychiatric symptoms include agitation, depression, anxiety, apathy, hallucinations, impulsivity, and aggression across these diseases. In addition, ethical considerations in treating these symptoms are paramount, particularly regarding genetic testing implications, end-of-life discussions, informed consent, and equitable access to innovative treatments. Effective management necessitates interdisciplinary collaboration, personalized interventions, and a focus on patient autonomy. Understanding the psychiatric burden of neurological diseases is crucial for enhancing patients\' quality of life. Further research is needed to elucidate underlying mechanisms and develop targeted interventions. This review underscores the importance of comprehensive assessment and ethical treatment practices to address psychiatric manifestations effectively.
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  • 文章类型: Journal Article
    探讨不完全性脊髓损伤(SCI)患者急性康复后2个月内进行的股直肌连续超声的变化,以及与损伤后1年功能结局的关系。
    前瞻性观察性研究。
    新加坡住院多专业三级康复中心。
    54名不完全SCI患者,定义为美国脊髓损伤协会损害量表B-D,SCI高于L2,于2020年3月至2021年6月招募。通过标准化方案,在受伤后1周和2个月后获得股直肌厚度和回声强度的连续肌肉超声。
    功能独立性测量(FIM)运动评分,下肢运动评分(LEMS),在入院后的第一周和1年评估了脊髓独立性措施III(SCIMIII)的室内活动成分和脊髓损伤的步行指数II(WISCIII)。
    2个月股直肌厚度变化与FIM运动评分呈显著正相关(P<0.001),LEMS(P<0.001),1年时SCIMIII室内移动性分量(P<0.001)和WISCIII(P<0.001)。对于2个月内回波强度的变化,与FIM运动评分呈显著负相关(P=0.002),LEMS(P=0.002),1年时SCIMIII室内移动性成分(P=0.001)和WISCIII(P=0.001)。
    研究结果表明,康复期间股直肌厚度和回声强度的超声连续评估可能有助于确定不完全SCI患者的长期功能结局。
    UNASSIGNED: To investigate the change in serial muscle ultrasound of rectus femoris of patients with incomplete spinal cord injury (SCI) performed within 2 months after SCI during acute rehabilitation, and the relationship with functional outcomes at 1 year post-injury.
    UNASSIGNED: Prospective observational study.
    UNASSIGNED: Inpatient multi-speciality tertiary rehabilitation center in Singapore.
    UNASSIGNED: Fifty-four patients with incomplete SCI, defined as American Spinal Injury Association Impairment Scale B-D, with SCI above L2, were recruited from March 2020 to June 2021. Serial muscle ultrasound of the rectus femoris thickness and echo intensity were obtained at 1 week post-injury and after 2 months via standardized protocols.
    UNASSIGNED: Functional Independence Measure (FIM) motor score, Lower Extremity Motor Score (LEMS), Spinal Cord Independence Measure III (SCIM III) indoor mobility component and Walking Index for Spinal Cord Injury II (WISCI II) were assessed in the first week post-admission and at 1 year.
    UNASSIGNED: There was a significant positive correlation between change in rectus femoris muscle thickness over 2 months and FIM motor score (P < 0.001), LEMS (P < 0.001), SCIM III indoor mobility component (P < 0.001) and WISCI II (P < 0.001) at 1 year. For the change in echo intensity over 2 months, there was a significantly negative correlation with FIM motor score (P = 0.002), LEMS (P = 0.002), SCIM III indoor mobility component (P = 0.001) and WISCI II (P = 0.001) at 1 year.
    UNASSIGNED: The findings suggest that ultrasonographic serial assessment of rectus femoris muscle thickness and echo intensity during rehabilitation may be useful for determining the long-term functional outcomes in patients with incomplete SCI.
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  • 文章类型: Journal Article
    小胶质细胞,大脑常驻巨噬细胞,在维持体内平衡方面发挥多种作用,包括豁免权,监视,并通过其独特的激活过程保护中枢神经系统。由于存在基于发育阶段或激活状态而不同的各种表型,因此识别所有类型的小胶质细胞驱动的种群至关重要。在胚胎发育过程中,E8.5卵黄囊包含经历不同生长期的红髓系祖细胞,最终导致小胶质细胞的形成。此外,小胶质细胞作为不同的群体存在于神经系统疾病中。到目前为止,目前还没有发现能够准确识别和监测小胶质细胞发育和属性的个体生物标志物.
    这里,我们强调了新定义的小鼠小胶质细胞的生物标志物,UGT1A7C,与其他已知的小胶质细胞生物标志物相比,在小胶质细胞发育和激活过程中表现出优异的表达稳定性。UGT1A7C传感化学探针标记3xTGAD小鼠模型中的所有小胶质细胞。Ugt1a7c在发育过程中表达稳定,只有4倍的变化,而其他小胶质细胞生物标志物,例如Csf1r和Cx3cr1表现出至少10倍的差异。UGT1A7C表达在其整个生命周期中保持恒定。此外,UGT1A7C的表达和活性在体外对不同类型的炎症激活剂治疗的反应中是相同的。
    我们建议采用UGT1A7C作为小胶质细胞的代表性生物标志物,不管他们的发展状况如何,年龄,或激活状态。使用UGT1A7C可以减少使用多种生物标志物的需求,提高小胶质细胞分析的精度,甚至被用作基因/蛋白质表达的标准。
    UNASSIGNED: Microglia, brain resident macrophages, play multiple roles in maintaining homeostasis, including immunity, surveillance, and protecting the central nervous system through their distinct activation processes. Identifying all types of microglia-driven populations is crucial due to the presence of various phenotypes that differ based on developmental stages or activation states. During embryonic development, the E8.5 yolk sac contains erythromyeloid progenitors that go through different growth phases, eventually resulting in the formation of microglia. In addition, microglia are present in neurological diseases as a diverse population. So far, no individual biomarker for microglia has been discovered that can accurately identify and monitor their development and attributes.
    UNASSIGNED: Here, we highlight the newly defined biomarker of mouse microglia, UGT1A7C, which exhibits superior stability in expression during microglia development and activation compared to other known microglia biomarkers. The UGT1A7C sensing chemical probe labels all microglia in the 3xTG AD mouse model. The expression of Ugt1a7c is stable during development, with only a 4-fold variation, while other microglia biomarkers, such as Csf1r and Cx3cr1, exhibit at least a 10-fold difference. The UGT1A7C expression remains constant throughout its lifespan. In addition, the expression and activity of UGT1A7C are the same in response to different types of inflammatory activators\' treatment in vitro.
    UNASSIGNED: We propose employing UGT1A7C as the representative biomarker for microglia, irrespective of their developmental state, age, or activation status. Using UGT1A7C can reduce the requirement for using multiple biomarkers, enhance the precision of microglia analysis, and even be utilized as a standard for gene/protein expression.
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  • 文章类型: Journal Article
    暂无摘要。
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  • 文章类型: Journal Article
    Brain plasticity is the ability of the nervous system to change its structure and functioning in response to experiences. These changes occur mainly at synaptic connections, and this plasticity is named synaptic plasticity. During postnatal development, environmental influences trigger changes in synaptic plasticity that will play a crucial role in the formation and refinement of brain circuits and their functions in adulthood. One of the greatest challenges of present neuroscience is to try to explain how synaptic connections change and cortical maps are formed and modified to generate the most suitable adaptive behavior after different external stimuli. Adenosine is emerging as a key player in these plastic changes at different brain areas. Here, we review the current knowledge of the mechanisms responsible for the induction and duration of synaptic plasticity at different postnatal brain development stages in which adenosine, probably released by astrocytes, directly participates in the induction of long-term synaptic plasticity and in the control of the duration of plasticity windows at different cortical synapses. In addition, we comment on the role of the different adenosine receptors in brain diseases and on the potential therapeutic effects of acting via adenosine receptors.
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  • 文章类型: Journal Article
    患有神经系统疾病的儿童面临心理健康和神经发育状况的风险增加,信息通常仅限于家长报告。为了更好地了解这个人群的心理健康和神经发育需求,在本研究中,对接受神经心理学评估的神经系统疾病儿童的便利样本进行了回顾性图表审查,以探索护理团队成员之间的评估者之间的协议(参考提供者,父母,儿科神经心理学家)。从129名患有神经系统疾病的青年(9:0-17:11岁;女性的51.2%)的评估报告中收集了定性和定量数据(即,38.0%创伤性脑损伤,27.1%癫痫,14.7%早产,7.8%儿科癌症,3.9%产前物质暴露,和14.7%的其他)在2019年完成评估。超过一半的年轻人被标记为未满足的神经发育和心理健康问题,分析显示,对心理健康问题的评分者之间的协议较低(κ=.324),对神经发育问题有更好的一致性(κ=.511),转诊提供者(Se=0.326)和父母(Se=0.366)的敏感性较低。单向方差分析揭示了重要因素(例如,症状严重程度,适应性技能),这可能会导致遗漏的担忧。研究结果指导建议,以加强了解神经系统疾病儿童的心理健康和/或神经发育问题的方法。
    Children with neurologic disorders face increased risks for mental health and neurodevelopmental conditions, with information often limited to parent report. To better understand mental health and neurodevelopmental needs in this population, a retrospective chart review of a convenience sample of children with neurologic disorders referred for a neuropsychological evaluation was conducted in the present study to explore interrater agreement between care team members (referring providers, parents, pediatric neuropsychologist). Qualitative and quantitative data were collected from the evaluation reports of 129 youth (9:0-17:11 years old; 51.2% of female sex) with neurologic disorders (i.e., 38.0% traumatic brain injury, 27.1% epilepsy, 14.7% premature birth, 7.8% pediatric cancer, 3.9% prenatal substance exposure, and 14.7% other) who completed an evaluation in 2019. Over half the youth were flagged for unmet neurodevelopmental and mental health concerns and analyses revealed low interrater agreement for mental health concerns (κ = .324), better agreement for neurodevelopmental concerns (κ = .511), and low sensitivity of referring providers (Se = .326) and parents (Se = .366). One-way analyses of variance uncovered important factors (e.g., symptom severity, adaptive skills) that may account for missed concerns. Findings guide recommendations to strengthen methods for understanding mental health and/or neurodevelopmental concerns in children with neurologic disorders.
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  • 文章类型: Case Reports
    This case report explores the clinical presentation and genetic findings of a 44-year-old male with a history of pediatric epilepsy. The patient\'s daughter, recently diagnosed with autism, underwent genetic testing, revealing a variant of uncertain significance (VUS) in the type IV collagen alpha 1 (COL4A1) gene. The male patient reported a spectrum of neurological symptoms, including chronic migraines, exertional weakness, and sensory disturbances. Detailed neurological examination findings were within normal limits, but a brain MRI unveiled confluent deep white matter T2/fluid-attenuated inversion recovery (FLAIR) signal abnormalities with basal ganglia involvement. Genetic testing identified a novel COL4A1 gene variant, c.3698G>A (p.Gly1233Glu), in the patient, which was also carried by his daughter. The nature and clinical implications of this VUS in the context of the family\'s clinical history are discussed in this case report, emphasizing the potential significance of this genetic variant in understanding the etiology of the patient\'s neurologic symptoms. Further research and correlation with clinical findings are needed to elucidate whether this is a pathogenic variant.
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  • 文章类型: Journal Article
    癫痫是最常见的神经系统疾病之一,其特征是反复发作。根据癫痫发作的类型,这可能会导致严重的后果。癫痫的发展机制尚未完全了解,但是这种疾病的一些共同特征是血脑屏障破坏,小胶质细胞激活,和神经炎症。这些也是活化蛋白C(APC)的靶标。事实上,通过下调凝血酶,被称为促炎,APC充当抗炎剂。APC也是一种抗凋亡蛋白,通过阻断p53介导的细胞凋亡。APC的神经保护作用可通过作用于血管内皮细胞而防止血脑屏障功能紊乱。此外,通过下调促凋亡,和促炎基因,APC的神经保护作用可以降低癫痫的作用或预防癫痫的发病机制。APC的活性作用于血脑屏障破坏,炎症,和细胞凋亡并导致神经发生,所有可能治疗或预防癫痫的标志。在这里,我们综述了活化蛋白C和癫痫的机制。函数,以及它们之间可能的联系。
    Epilepsy is one of the most common neurologic disorders that is characterized by recurrent seizures, and depending on the type of seizure, it could lead to a severe outcome. Epilepsy\'s mechanism of development is not fully understood yet, but some of the common features of the disease are blood-brain barrier disruption, microglia activation, and neuroinflammation. Those are also targets of activated protein C (APC). In fact, by downregulating thrombin, known as a pro-inflammatory, APC acts as an anti-inflammatory. APC is also an anti-apoptotic protein, instance by blocking p53-mediated apoptosis. APC\'s neuroprotective effect could prevent blood-brain barrier dysfunction by acting on endothelial cells. Furthermore, through the downregulation of proapoptotic, and proinflammatory genes, APC\'s neuroprotection could reduce the effect or prevent epilepsy pathogenesis. APC\'s activity acts on blood-brain barrier disruption, inflammation, and apoptosis and causes neurogenesis, all hallmarks that could potentially treat or prevent epilepsy. Here we review both Activated Protein C and epilepsy mechanism, function, and the possible association between them.
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  • 文章类型: Journal Article
    背景:神经系统疾病患者出现压疮的风险增加。这项研究的主要目的是评估压疮的发生率和患病率及其对住院时间和功能恢复的影响。
    方法:在神经康复病房进行了为期7年的回顾性研究。收集的数据包括人口统计数据,逗留时间,功能评估,压疮发展的风险,营养状况,和皮肤。根据欧洲压力性溃疡咨询小组系统对压力性溃疡进行分类。
    结果:分析了816例患者的数据。一入场,作者在131名患者中发现了236个压疮(约16%),分为第一阶段(25%),第二阶段(50%),和III-IV期(25%)。最常见的部位是足跟(36%)和骶骨(29%)。在压疮发展的危险因素中,营养不良发挥了重要作用,约76%的压疮患者有轻度至中度营养不良。
    结论:压疮的存在似乎对患者的功能恢复有负面影响,如结果量表和平均住院时间所示:51天对36天(p<0.01)。
    BACKGROUND: Neurological disease patients present an increased risk of developing pressure ulcers. The primary aim of this study is to evaluate the incidence and prevalence of pressure ulcers and their impact on length of stay and functional recovery.
    METHODS: A retrospective study was conducted in a neurorehabilitation unit over a seven-year period. Data collected include demographic data, length of stay, functional evaluation, risk of pressure ulcers development, nutritional status, and skin. Pressure ulcers were classified according to the European Pressure Ulcer Advisory Panel System.
    RESULTS: Data from 816 patients were analyzed. On admission, the authors found 236 pressure ulcers in 131 patients (about 16%), divided into stage I (25%), stage II (50%), and stage III-IV (25%). The most common sites were the heel (36%) and sacrum (29%). Among the risk factors for the development of pressure ulcers, malnutrition played a significant role, with approximately 76% of patients with pressure ulcers having mild to moderate malnutrition.
    CONCLUSIONS: The presence of pressure ulcers seems to have a negative impact on the functional recovery of patients, as shown by the outcome scales and the average length of stay: 51 days versus 36 days (p < 0.01).
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  • 文章类型: Journal Article
    神经和精神疾病影响世界各地的许多人,对医疗保健至关重要。至关重要的是,初级保健医生最初会评估最终需要神经调节(NM)治疗的患者。人们越来越关注医学生对NM治疗的了解程度。教育不足和未来医生对不同治疗方法的接触有限会限制他们及时和适当地转诊患者的能力,从而阻碍获得必要的治疗。方法本研究采用非概率分层雪球抽样技术招募参与者。人口包括沙特阿拉伯UmmAl-Qura大学(UQU)的本科医学生(不包括实习生)。通过在线问卷进行数据收集。结果样本包括301名医学生,平均年龄为21.62±1.54岁(18至25岁)。大多数是女性(65.1%),在临床年度(57.8%),相当部分的受访者(57.5%)对NM设备已被FDA批准用于治疗缺乏认识.临床前和临床年学生都表现出知识不足(91.3%和91.4%,分别)。与男性(83.8%)相比,女性对NM的不良态度比例更高(95.9%)。值得注意的是,与临床学生(6.3%)相比,临床前学生的知识水平更高(11.0%)。结论该研究表明,医学生对NM设备的知识明显缺乏。考虑到NM设备在临床实践中的日益普及,这是令人担忧的。为了确保最佳的患者护理,为医学生提供NM设备的全面教育至关重要。
    Introduction Neurologic and psychiatric disorders affect many people worldwide and are crucial to medical care. It is crucial to note that primary care doctors initially evaluate patients who will eventually require neuromodulation (NM) therapy. There is a growing concern about the extent of medical students\' knowledge regarding NM therapy. Insufficient education and limited exposure of future doctors to different treatment approaches can limit their ability to refer patients promptly and appropriately, thereby impeding access to necessary treatment. Methods The study employed a non-probability stratified snowball sampling technique to recruit participants. The population consisted of undergraduate medical students (excluding interns) at Umm Al-Qura University (UQU) in Saudi Arabia. Data collection was conducted through an online questionnaire. Results The sample comprised 301 medical students, with an average age of 21.62±1.54 years (ranging from 18 to 25). The majority were female (65.1%), and in the clinical years (57.8%), a considerable portion of respondents (57.5%) lacked awareness that NM devices are approved by the FDA for treatment. Both pre-clinical and clinical-year students exhibited insufficient knowledge (91.3% and 91.4%, respectively). Females showed a higher proportion (95.9%) of poor attitudes toward NM compared to males (83.8%). Notably, preclinical students showed a higher level of knowledge (11.0%) compared to clinical students (6.3%). Conclusions The study revealed a significant lack of knowledge among medical students regarding NM devices. This is concerning given the growing prevalence of NM devices in clinical practice. To ensure optimal patient care, it is crucial to provide comprehensive education on NM devices to medical students.
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