subacute sclerosing panencephalitis

亚急性硬化性全脑炎
  • 文章类型: Journal Article
    背景:在中国蛇出没的山区,虎耳草[L.]Meeb被广泛用作毒蛇咬伤的即时补救措施。然而,对蛇毒链球菌在蛇咬伤治疗中疗效的科学认识仍然有限,需要进一步研究。
    目的:本研究的目的是评估虎耳草酚类提取物(SSPE)对蛇毒(DAV)的抑制作用,并探讨蛇毒蛇毒作为抗蛇毒血清开发有价值的候选药物的潜力。
    方法:我们采用了先前优化的提取条件来获得SSPE。利用不同模型进行体外实验,以评估提取的酚类化合物对DAV的抑制作用,特异性靶向磷脂酶A2(PLA2),蛋白水解,纤维蛋白溶解,和透明质酸酶。此外,进行体内研究以评估提取的化合物对DAV诱导的出血和水肿活性的抑制潜力。为了阐明酚类提取物的化学成分,进行超高效液相色谱-质谱(UPLC-MS)分析。
    结果:我们的体外抑制研究表明,蛇床子能够抑制PLA2酶的活性,蛋白水解酶,透明质酸酶和纤溶蛋白。SSPE抑制PLA2酶的中位有效剂量(ED50)值,蛋白水解酶和透明质酸酶活性为0.115mg/mL,0.026mg/mL和0.238mg/mL,分别。SSPE的DAV诱导的出血和水肿作用也在体内被成功抑制。高SSPE浓度能完全抑制出血和水肿。值得注意的是,小鼠没有遭受高SSPE浓度的伤害。成分分析表明,SSPE中含有的酚类物质为没食子酸,原儿茶酸,绿原酸,芦丁,山奈酚-3-O-α-L-鼠李糖苷,山奈酚-3-O-β-D-吡喃葡萄糖苷,槲皮素和山奈酚。
    结论:本研究提供了对蛇毒蛇咬伤作为紧急治疗的抑制功效的科学验证,为未来针对蛇咬伤的药物开发策略提供理论基础。
    BACKGROUND: In the snake-infested mountainous regions of China, Saxifraga stolonifera [L.] Meeb is widely utilized as an immediate remedy for venomous snake bites. However, the scientific understanding of S. stolonifera\'s efficacy in snakebite treatment remains limited and requires further investigation.
    OBJECTIVE: The aim of this study was to assess the inhibitory effects of Saxifraga stolonifera phenolic extracts (SSPE) on Deinagkistrodon acutus venom (DAV) and explore the potential of S. stolonifera as a valuable candidate for antivenom development.
    METHODS: We employed our previously optimized extraction conditions to obtain SSPE. In vitro experiments utilizing diverse models were conducted to assess the inhibitory effects of the extracted phenolic compounds on DAV, specifically targeting phospholipase A2 (PLA2), proteolytic, fibrinolytic, and hyaluronidase enzymes. Furthermore, in vivo investigations were conducted to evaluate the inhibitory potential of the extracted compounds against DAV-induced hemorrhagic and edematogenic activity. To elucidate the chemical composition of the phenolic extracts, Ultra Performance Liquid Chromatography-mass spectrometry (UPLC-MS) analysis was performed.
    RESULTS: Our in vitro inhibition study showed that S. stolonifera was able to inhibit the activities of PLA2 enzyme, proteolytic enzyme, hyaluronidase and fibrinogenolytic. The median effective dose (ED50) values of SSPE for inhibiting PLA2 enzyme, proteolytic enzyme and hyaluronidase activities were 0.115 mg/mL, 0.026 mg/mL and 0.238 mg/mL, respectively. The DAV-induced hemorrhagic and edematogenic effects of the SSPE were also successfully inhibited in vivo, and the high SSPE concentration was able to completely inhibit the hemorrhage and edema. It is noteworthy that the mice suffered no harm from the high SSPE concentration. The composition analysis showed that the phenolic substances contained in SSPE are gallic acid, protocatechuic acid, chlorogenic acid, rutin, kaempferol-3-O-ɑ-L-rhamnoside, kaempferol-3-O-β-D-glucopyranoside, quercetin and kaempferol.
    CONCLUSIONS: This study provides scientific validation of the inhibitory efficacy of S. stolonifera as an emergency treatment for venomous snake bites, offering a theoretical foundation for future drug development strategies targeting snakebite.
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  • 文章类型: Journal Article
    Objective.分析华北地区4例亚急性硬化性全脑炎的脑电图特征。方法。我们回顾性分析了来自华北的4例亚急性硬化性全脑炎患者和12例对照组患者的EEG特征。结果。在四例亚急性硬化性全脑炎中都发现了周期性的长间隔弥漫性放电。周期性复合物的形态和成分在不同患者和不同清醒状态下有所不同。一些脑电图参数设置有助于识别周期性的长间隔扩散放电,包括减慢的扫描速度,灵敏度降低,蒙太奇数量减少。在每个亚急性硬化性全脑炎患者中,在清醒期发现了与两种类型的短暂发作(1:1)相关的周期性长间隔弥散性放电,对照组中没有患者有这种EEG模式.基于定期出院和短暂发作的评分系统还显示,所有SSPE患者均达到评分5,而对照组中没有患者的评分大于3,这表明这种EEG模式可能具有诊断价值。Conclusions.在亚急性硬化性全脑炎中,不同患者和不同清醒状态下,周期性长间隔弥漫性放电的形态和成分有所不同。特定的EEG参数设置有助于识别周期性的长间隔扩散放电。在清醒期与两种类型的短暂发作(1:1)相关的周期性长间隔弥漫性放电可能强烈提示亚急性硬化性全脑炎的诊断。
    Objective. To analyze the EEG features of four subacute sclerosing panencephalitis cases in North China. Methods. We retrospectively analyzed the EEG features in four patients with subacute sclerosing panencephalitis and 12 patients in control group from North China. Results. The periodic long-interval diffuse discharges were found in all of the four cases with subacute sclerosing panencephalitis. The morphology and component of periodic complexes were varied in different patients and different wakefulness states. Some EEG parameter settings help to identify periodic long-interval diffuse discharges including the slowed sweep speed, decreased sensitivity and reduced number of montages. In each patient with subacute sclerosing panencephalitis, the periodic long-interval diffuse discharges associated with two types of brief episodes (1:1) during awake period were found and none of the patients in the control group had this EEG pattern. The score system based on the periodic discharges and brief episodes also shows that all the patients with SSPE reached score 5 while none of the patients in the control group has a score greater than 3, which suggests that this EEG pattern may have diagnostic value. Conclusions. In subacute sclerosing panencephalitis, the morphology and component of periodic long-interval diffuse discharges were varied in different patients and different wakefulness states. Specific EEG parameter settings help to identify periodic long-interval diffuse discharges. Periodic long-interval diffuse discharges associated with two types of brief episodes (1:1) during awake period may strongly suggest the diagnosis of subacute sclerosing panencephalitis.
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  • 文章类型: Journal Article
    年龄较小的儿童亚急性硬化性全脑炎(SSPE)的临床特征和结局与成人不同,易导致早期误诊。到目前为止,学龄前儿童与SSPE相关的数据有限。
    为了总结学龄前儿童SSPE的临床数据和演变,并扩大SSPE的表型,对诊断为SSPE的学龄前患者的病历进行回顾性回顾和分析;对纳入病例的临床结果进行评估和随访。
    总的来说,我们在研究中纳入了3例病例.发病年龄为5岁零2个月,4年零3个月,还有4年零2个月,分别。所有患者都以跌落发作或抽搐为首发症状,一名患者并发步态障碍。所有患者均记录了脑电图(EEG)上的非典型周期性复合物。两例病例的脑磁共振成像(MRI)结果显示脱髓鞘病变主要在白质上。所有病例的神经状况迅速恶化。两名儿童在发病后21个月和6个月死亡,分别。另一例在4个月内逐渐发展为植物人状态和运动障碍。
    在年幼的孩子中,SSPE的特征性特征可能是癫痫发作和步态不稳定作为发作表现,脑电图上的非典型周期性复合波,和迅速恶化的神经状况。
    The clinical features and outcomes of subacute sclerosing panencephalitis (SSPE) in younger children are different from those of adults, leading easily to misdiagnosis during the early stage. So far, there are limited data related to SSPE in preschool children.
    In order to summarize the clinical data and evolution of SSPE in preschool children and to expand the phenotypes of SSPE, the medical charts of preschool patients diagnosed with SSPE were retrospectively reviewed and analyzed; the clinical outcomes of the enrolled cases were evaluated and followed up.
    Overall, we included three cases in the study. Their onset age was 5 years and 2 months, 4 years and 3 months, and 4 years and 2 months, respectively. All patients presented drop attacks or jerks as the onset symptom, and one patient had concurrent gait disturbance. Atypical periodic complexes on electroencephalography (EEG) were recorded in all patients. The brain magnetic resonance imaging (MRI) findings of two cases showed demyelinating lesions predominantly on the white matter. The neurological conditions of all cases deteriorated rapidly. Two children died at 21 months and 6 months after onset, respectively. The other case progressively developed vegetative status and akinetic mutism within 4 months.
    In younger children, the characteristic features of SSPE may be seizures and gait instability as onset manifestations, atypical periodic complexes on EEG, and rapid worsening of neurological conditions.
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  • 文章类型: Journal Article
    据报道,TREM2(在骨髓细胞上表达的触发受体2)基因变体会增加阿尔茨海默病(AD)甚至其他神经退行性疾病(额颞叶痴呆(FTD),帕金森病(PD)和肌萎缩侧索硬化症(ALS),但到目前为止,没有明确的结论。我们的系统评价和荟萃分析的目的是研究TREM2变异在神经退行性疾病中的作用。共检索到39篇论文(包括26例病例对照研究和13例病例报告),MEDLINE,EMBASE,和Cochrane图书馆在这项研究中。在分析中使用固定效应模型来汇集结果。TREM2中的三个变体(rs75932628(R47H),rs2234255(H157Y),rs143332484(R62H)与AD风险显着相关,但rs104894002(Q33X)之间的类似关联,rs2234253(T96K),rs14223675(D87N),rs2234256(L211P),AD没有被证明。Rs75932628也增加了北美和FTD的PD风险,但不是欧洲人或ALS的PD。在系统审查中,12双等位基因TREM2突变(例如,rs104894002,rs201258663(T66M),和rs386834144等。)已被描述为在14个家庭中引起多囊脂膜骨发育不良伴硬化性白质脑病(PLOSL)。并且已经报道纯合突变在7个家族中引起没有典型骨表型的FTD。这项研究表明,TREM2中的多个变体与AD的发作有关,FTD,在这种罕见的家族性遗传病的表型中也起着关键作用。
    TREM2 (triggering receptor expressed on myeloid cells 2) gene variants were reported to increase the risk of Alzheimer\'s disease (AD) and even other neurodegenerative diseases (frontotemporal dementia (FTD), Parkinson\'s disease (PD) and amyotrophic lateral sclerosis (ALS)), but so far, no definite conclusion has been drawn. The aim of our systematic review and meta-analysis was to investigate the role of TREM2 variants in neurodegenerative diseases. A total of 39 papers (including 26 case-control studies and 13 case reports) were retrieved from PubMed, MEDLINE, EMBASE, and the Cochrane library in this study. A fixed effect model was used to pool results in the analysis. Three variants in TREM2 (rs75932628 (R47H), rs2234255 (H157Y), and rs143332484 (R62H)) were significantly associated with AD risk, but the similar associations between rs104894002 (Q33X), rs2234253 (T96K), rs142232675 (D87N), rs2234256 (L211P), and AD were not proven. Rs75932628 also increased risk of PD in North Americans and FTD, but not PD in Europeans or ALS. In the systematic review, 12 biallelic TREM2 mutations (e.g., rs104894002, rs201258663 (T66M), and rs386834144, etc.) have been described to cause Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (PLOSL) in 14 families. And homozygous mutations also have been reported to cause FTD without typical bone phenotypes in 7 families. This study demonstrates that multiple variants in TREM2 have association with the onset of AD, FTD, and PD in North Americans and also play a key role in the phenotypes of the rare familial genetic disorder.
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  • 文章类型: Case Reports
    1例SSPE患者在4年。他在7.5个月时患有麻疹和麻疹脑炎。在中国,建议在8个月和18-24个月进行第一次和第二次麻疹免疫接种,分别。我们建议上述免疫接种应在6个月和12-15个月分别给予。
    1 patient with SSPE at 4 y. He had had measles and measles encephalitis at 7.5 months. In China, the first and the second measles immunizations are recommended at 8 months and at 18-24 months, respectively. We recommend above immunizations should be given separately at 6 months and at 12-15 months.
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  • 文章类型: Journal Article
    目的:先前报道的功能突变rs75932628-T(p。R47H)在髓样细胞2上表达的触发受体(TREM2)是阿尔茨海默病的遗传风险因素,帕金森病(PD)和额颞叶痴呆,在欧洲人口中。本研究旨在评估中国汉族人群中rs75932628-T变体与PD和白质疏松症(LA)的遗传关联。
    方法:本研究由厦门大学及其附属医院在中国进行。
    方法:308例LA患者,从厦门大学附属第一医院招募了342名PD患者和198名健康献血者。
    方法:通过分子信标实时PCR和Sanger测序进行基因分型。
    结果:我们的参与者均未携带rs75932628-T突变。
    结论:我们的结果证实并扩展了先前的发现,结论是变体rs75932628-T(p.TREM2中的R47H)不是汉族人群中LA或PD的危险因素。
    OBJECTIVE: The previously reported functional mutation rs75932628-T (p.R47H) in the triggering receptor expressed on myeloid cells 2 (TREM2) is a genetic risk factor for Alzheimer\'s disease, Parkinson\'s disease (PD) and frontotemporal dementia, in European populations. This study aims to assess the genetic association of the variant rs75932628-T with PD and leucoaraiosis (LA) in a Han Chinese population.
    METHODS: This population-based study was conducted in China by Xiamen University and its affiliated hospital.
    METHODS: 308 patients with LA, 342 patients with PD and 198 healthy blood donors were recruited from the First Affiliated Hospital of Xiamen University.
    METHODS: Genotyping was performed by molecular beacon real-time PCR and Sanger sequencing.
    RESULTS: None of our participants carried the rs75932628-T mutation.
    CONCLUSIONS: Our results corroborate and extend previous findings, concluding that the variant rs75932628-T (p.R47H) in TREM2 is not a risk factor for LA or PD in the Han Chinese population.
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    文章类型: Journal Article
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  • 文章类型: Case Reports
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  • 文章类型: Case Reports
    This report describes an atypical case of rapidly progressive subacute sclerosing panencephalitis presenting as transient visual agnosia and myoclonus in a 14-year-old male. There were no typical periodic complexes in serial electroencephalographic monitoring; cerebrospinal fluid measles antibody titer was negative. The diagnosis was made by molecular and histologic examination of open brain biopsy tissue.
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  • 文章类型: Case Reports
    这项调查报告了中国南方两个发达城市亚急性硬化性全脑炎的患病率和临床特征。进行了一项全港性调查,以确定1988-2002年在香港和澳门诊断出的所有亚急性硬化性全脑炎病例。总之,确定了10例(男性:女性=7:3),其中6例仍然活着。2002年香港和澳门亚急性硬化性全脑炎的患病率为每百万总人口1例或每百万儿童5.5例。呈现的平均年龄为9.4岁(范围=4-14岁)。表现特征包括肌阵挛症(60%),学校成绩恶化(30%),和一过性视力障碍(10%)。临床过程变化很大。大多数有亚急性病程,但是两个人迅速恶化并在6个月内死亡。七个孩子感染了麻疹,大部分感染(86%)发生在1988年的世界麻疹流行期间。麻疹感染与亚急性硬化性全脑炎发作之间的平均间隔为6.5年(范围=3-11年)。1988年麻疹暴发后,中国南方亚急性硬化性全脑炎有增加趋势。为了对这种破坏性疾病进行多中心药物试验,有必要在1988年爆发期间对麻疹感染者进行亚急性硬化性全脑炎的积极监测。
    This investigation reports the prevalence and clinical profile of subacute sclerosing panencephalitis in two developed cities of southern China. A territory-wide survey was conducted to identify all subacute sclerosing panencephalitis cases diagnosed during 1988-2002 in Hong Kong and Macau. Altogether, 10 cases (male:female = 7:3) were identified of whom six were still alive. The prevalence rate of subacute sclerosing panencephalitis in Hong Kong and Macau in 2002 was 1 per million total population or 5.5 per million children. The mean age of presentation was 9.4 years (range = 4-14 years). Presenting features included myoclonus (60%), deterioration in school performance (30%), and transient visual impairment (10%). The clinical course was highly variable. Most had subacute course, but two deteriorated rapidly and died within 6 months. Seven children had measles infection, and the majority of infection (86%) occurred during the world measles epidemic in 1988. The mean interval between measles infection and onset of subacute sclerosing panencephalitis was 6.5 years (range = 3-11 years). There has been an increasing trend of subacute sclerosing panencephalitis in southern China after the measles outbreak in 1988. Active surveillance of subacute sclerosing panencephalitis for those with measles infection during the 1988 outbreak is necessary to conduct multicenter drug trials for this devastating disease.
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