convulsion

惊厥
  • 文章类型: Journal Article
    背景外伤性颅内出血是一种危及生命的疾病,早期发现和反应可以显着降低发病率和死亡率。这项研究的目的是评估公众对吉达成年人创伤后颅内出血的惊人迹象的认识,沙特阿拉伯。方法从2023年8月至2024年4月,使用五量表结构化问卷进行了描述性横断面研究:人口统计,道路交通事故的危险因素,警报体征和症状,识别这些迹象的能力,以及经历过头部创伤的参与者。这项研究的重点是居住在吉达的18岁及以上的人群。结果共纳入584名参与者,男性占34.2%,女性占65.8%。调查结果显示,有57%的人认识到头部创伤后对医疗帮助的迫切需要。此外,只有45%的人不知道意识或清醒程度低表明出血,反映了成年人的认识水平低。在儿童中,只有34%的人认识到饮食和泌乳习惯的变化,54%的人认为持续的哭泣和易怒。此外,66%的参与者认为意识丧失或改变是需要住院的症状,而60%的人认为慢性头痛是一个关键的征兆。结论这项研究表明,迫切需要开展公共卫生运动,以提高对颅内创伤后出血迹象的认识和理解。结果强调了早期医疗干预以降低与这种情况相关的发病率和死亡率的重要性。
    Background Post-traumatic intracranial hemorrhage is a life-threatening condition, and early detection and response can significantly reduce morbidity and mortality rates. The aim of this study was to assess public awareness of the alarming signs of intracranial bleeding after trauma in adults in Jeddah, Saudi Arabia. Methodology From August 2023 to April 2024, a descriptive cross-sectional study was conducted using a five-scale structured questionnaire: demographics, risk factors for road traffic accidents, alarm signs and symptoms, ability to recognize these signs, and participants who experienced head trauma. The study focused on people aged 18 and over living in Jeddah. Results A total of 584 participants were included, with 34.2% males and 65.8% females. Findings revealed that 57% recognized the critical need for medical help after head trauma. Furthermore, only 45% of the population were unaware that low levels of awareness or wakefulness indicate bleeding, reflecting a low awareness level in the adult population. Among children, only 34% recognized changes in eating and lactation habits, and 54% identified continuous crying and irritability. Furthermore, 66% of participants identified loss or change in consciousness as a symptom that required hospital admission, while 60% recognized chronic headaches as a critical sign. Conclusion This study revealed the critical need for public health campaigns to improve awareness and understanding of signs of intracranial post-traumatic bleeding. The results highlighted the importance of early medical interventions to reduce the morbidity and mortality associated with this condition.
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  • 文章类型: Case Reports
    Sanjad-Sakati综合征是一种常染色体隐性遗传疾病,以面部畸形为特征,生长迟缓,和先天性甲状旁腺功能减退症.流行病学,这种综合征主要在阿拉伯裔儿童中观察到。然而,非阿拉伯国家也报告了病例。尽管它的确切流行程度尚不确定,沙特阿拉伯的估计发病率从40,000到60,000活产婴儿中的1。我们报告了一例女性婴儿的Sanjad-Sakati综合征,出生在一级血缘关系的父母,从四个月大开始出现抽搐性癫痫发作。实验室检查结果提示严重的低钙血症和磷酸盐水平升高,符合先天性甲状旁腺功能减退症。治疗包括补充钙和维生素D,这导致了患者病情的明显改善。该临床病例的目的是强调低钙血症的罕见原因,并描述Sanjad-Sakati综合征的某些临床和内分泌表现,这在阿拉伯人口中很普遍。
    Sanjad-Sakati syndrome is an autosomal recessive disorder characterized by facial dysmorphia, growth retardation, and congenital hypoparathyroidism. Epidemiologically, this syndrome is primarily observed in children of Arabian descent. However, cases have also been reported in non-Arab countries. Although its exact prevalence is uncertain, the estimated incidence in Saudi Arabia ranges from one in 40,000 to one in 600,000 live births. We report a case of Sanjad-Sakati syndrome in a female infant, born to first-degree consanguineous parents, who presented with convulsive seizures since the age of four months. Laboratory findings indicated severe hypocalcemia and elevated phosphate levels, consistent with congenital hypoparathyroidism. The treatment involved calcium and vitamin D supplementation, which led to a marked improvement in the patient\'s condition. The objective of this clinical case is to highlight an uncommon cause of hypocalcemia and to describe certain clinical and endocrinological manifestations of Sanjad-Sakati syndrome, which is prevalent in the Arab population.
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  • 文章类型: Journal Article
    药物引起的惊厥是药物开发中的一个严重问题,因此,必须在临床前安全性研究中评估候选药物的惊厥责任。然而,关于物种之间对人类惊厥药物引起的惊厥敏感性的差异的信息仍然有限。这里,我们从几个药理学类别中选择了11篇测试文章,并比较了三种类型的实验动物对惊厥的敏感性。通过腹膜内注射在小鼠中和通过静脉推注在大鼠中检查所有11个测试物品;并且11个测试物品中的6个,主要根据抽搐时人体药物血浆浓度数据的可用性进行选择,通过静脉输注在非人灵长类动物(NHP)中进行检查。在惊厥发作后不久或给药后5分钟测量测试物品的血浆浓度。所有11篇文章在小鼠中测试,在大鼠中测试的11篇文章中有10篇,在NHP中测试的所有6篇文章均具有先兆征象。虽然有一个普遍的趋势,大鼠和NHP表现出惊厥在较低的血浆药物浓度比小鼠,惊厥发作时的血浆浓度大致相当,在3倍差异内,跨动物物种。我们得出结论,老鼠,老鼠,本研究中检查的NHP通常对供试品引起的惊厥表现出相似的敏感性。因此,这些实验动物中的每一种都可用于在药物开发的早期阶段评估惊厥风险,根据吞吐量,成本,和测试文章的具体要求。
    Drug-induced convulsion is a serious concern in drug development, such that the convulsion liability of drug candidates must be evaluated in preclinical safety studies. However, information on the differences among species regarding their sensitivity to convulsions induced by convulsant drugs in humans remains limited. Here, we selected 11 test articles from several pharmacological classes and compared the sensitivities of three types of laboratory animal to convulsion. All 11 test articles were examined in mice via intraperitoneal injection and in rats via intravenous bolus; and 6 of the 11 test articles, selected mainly based on availabilities of data on drug plasma concentrations in humans at convulsion, were examined in non-human primates (NHPs) via intravenous infusion. Plasma concentrations of the test articles shortly after convulsion onset or 5 min after administration were measured. All 11 articles tested in mice, 10 of 11 articles tested in rats, and all 6 articles tested in NHPs induced convulsion with premonitory signs. Although there was a general tendency that rats and NHPs exhibited convulsions at lower plasma drug concentrations than did mice, the plasma concentrations at convulsion onset were generally comparable, within 3-fold differences, across the animal species. We conclude that the mice, rats, and NHPs examined in the present study generally showed similar sensitivities to convulsion induced by the test articles. Thus, each of these laboratory animals can be used for the assessment of convulsion risk in the early stages of drug development, depending on throughput, cost, and test article-specific requirements.
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  • 文章类型: Journal Article
    目的:据报道,癫痫发作是COVID-19疫苗的不良事件。然而,与普通人群相比,没有确凿的证据表明癫痫发作发生率增加。这项研究旨在调查与未接种疫苗的对照组相比,COVID-19疫苗接种者的癫痫发作情况。
    方法:对PubMed进行了系统搜索,WebofScience,Scopus,和Cochrane图书馆至2024年4月9日。纳入了报告COVID-19疫苗接种后癫痫发作发生的研究。这项研究是根据系统评价和荟萃分析框架的首选报告项目报告的,并使用随机和共同效应模型进行。通过纽卡斯尔-渥太华量表评估研究中的偏倚风险。感兴趣的结果是(1)COVID-19疫苗接种者之间的新发作癫痫发生率比例,(2)未接种疫苗的队列,(3)各类COVID-19疫苗。
    结果:纳入了40项研究,其中7人进入荟萃分析。通过汇总队列研究,对13016024名疫苗接种者和13013262名未接种疫苗的个体的新发作性癫痫发作发生率(疫苗接种后21天或28天)进行汇总分析的结果未显示两组之间的任何统计学显着差异(比值比[OR]=.48,95%置信区间[CI]=.19-1.20,p=.12,I2=95%,τ2=.7145)。合并四项研究,分别占19769004mRNA与47494631个病毒载体疫苗剂量,在两组之间的新发作性癫痫发作发生率方面没有显着差异(OR=1.18,95%CI=0.78-1.78,p=.44,I2=0%,τ2=.004)。
    结论:这项系统评价和荟萃分析显示,接种COVID-19的个体和未接种疫苗的个体之间新发癫痫发作的风险无统计学差异。
    OBJECTIVE: Seizures have been reported as an adverse event of the COVID-19 vaccine. However, there is no solid evidence of increased seizure occurrence compared to the general population. This study was undertaken to investigate seizure occurrence among COVID-19 vaccine recipients compared to unvaccinated controls.
    METHODS: A systematic search was made of PubMed, Web of Science, Scopus, and Cochrane Library up to April 9, 2024. Studies reporting seizure occurrence following COVID-19 vaccination were included. This study is reported according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses framework and was conducted using random- and common-effect models. The risk of bias in the studies was evaluated by the Newcastle-Ottawa Scale. The outcome of interest was new onset seizure incidence proportion compared among (1) COVID-19 vaccine recipients, (2) unvaccinated cohorts, and (3) various types of COVID-19 vaccines.
    RESULTS: Forty studies were included, of which seven entered the meta-analysis. Results of the pooled analysis of the new onset seizure incidence (21- or 28-day period after vaccination) in 13 016 024 vaccine recipients and 13 013 262 unvaccinated individuals by pooling the cohort studies did not show any statistically significant difference between the two groups (odds ratio [OR] = .48, 95% confidence interval [CI] = .19-1.20, p = .12, I2 = 95%, τ2 = .7145). Pooling four studies accounting for 19 769 004 mRNA versus 47 494 631 viral vector vaccine doses demonstrated no significant difference in terms of new onset seizure incidence between the groups (OR = 1.18, 95% CI = .78-1.78, p = .44, I2 = 0%, τ2 = .004).
    CONCLUSIONS: This systematic review and meta-analysis shows no statistically significant difference in the risk of new onset seizure incidence between COVID-19 vaccinated individuals and unvaccinated individuals.
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  • 文章类型: Journal Article
    Stiripentol(STP,Diacomit©)是一种用于Dravet综合征的抗癫痫药物,一种罕见的以抗药性癫痫发作为特征的发育性和癫痫性脑病,包括癫痫持续状态(SE)。SE是一种危及生命的事件,可能导致发病率和死亡率增加。这里,我们使用全身给药蛋氨酸亚砜胺(MSO)诱导的CBA小鼠模型评估了STP对SE和SE相关死亡率的影响,一种不可逆的谷氨酰胺合成酶抑制剂.MSO诱发抽搐,长时间癫痫发作(SE)和死亡,随着血氨水平的增加。单次急性腹腔内预处理200-300-400mg/kgSTP显著抑制癫痫发作次数,MSO处理的动物中SE的发生和死亡呈剂量依赖性。关于血氨水平,STP可显著降低MSO引起的高氨血症41%。总之,我们的结果显示STP在小鼠中具有降低和/或抑制SE的发生及其相关死亡率的保护作用.
    Stiripentol (STP, Diacomit©) is an antiseizure medication indicated for Dravet syndrome, a rare developmental and epileptic encephalopathy characterized by drug-resistant seizures, including status epilepticus (SE). SE is a life-threatening event that may lead to increased risk of morbidity and mortality. Here, we evaluated the effect of STP on SE and SE-associated mortality using a CBA mouse model induced by systemic administration of methionine sulfoximine (MSO), an irreversible inhibitor of glutamine synthetase. MSO induces convulsions, prolonged seizure (SE) and death, with an increase of blood ammonia level. A single acute intraperitoneal pretreatment with 200-300-400 mg/kg of STP significantly inhibited the number of seizures, SE occurrence and death in MSO-treated animals in a dose-dependent manner. Regarding blood ammonia level, STP significantly reduced by 41 % the hyperammonemia induced by MSO. In conclusion, our results show protective effects of STP to reduce and or suppress the occurrence of SE as well as its associated mortality in mice.
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  • 文章类型: Case Reports
    抗精神病药恶性综合征(NMS)是一种罕见但危及生命的疾病,通常以意识改变和类似癫痫发作的临床特征为特征。此病例报告提供了一个独特而成功的诊断NMS的昏迷患者,病史不详。我们证明了振幅整合脑电图(aEEG)作为癫痫样疾病鉴别诊断的有价值的工具的潜在用途。包括NMS。aEEG的应用允许早期诊断和及时开始适当的治疗,可能有助于改善患者预后。
    Neuroleptic malignant syndrome (NMS) is a rare but life-threatening medical condition often characterized by altered consciousness and clinical features resembling seizures. This case report presents a unique and successful diagnosis of NMS in an unconscious patient with an unknown medical history. We demonstrate the potential utility of amplitude-integrated electroencephalography (aEEG) as a valuable tool for the differential diagnosis of seizure-like medical conditions, including NMS. The application of aEEG allowed for early diagnosis and prompt initiation of appropriate treatment, potentially contributing to improved patient outcomes.
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  • 文章类型: Journal Article
    罗勒物种提供活性化合物,有可能开发治疗慢性疾病的药物,如焦虑和癫痫发作。本研究旨在研究O.basilicumLinn(OEFOb)叶精油及其主要成分雌二醇(ES)在体内对成年斑马鱼(aZF)和硅片的抗惊厥和抗焦虑作用。用OEFOb或ES或媒介物处理aZF,并进行毒性测试。开放领域,焦虑,和惊厥,并通过分子对接试验验证了雌粒对GABA能和5-羟色胺能受体的相互作用。结果表明,口服OEFOb和ES对aZF没有毒性作用,并在GABAA的参与下表现出抗焦虑样作用,5-HT1,5-HT2A/2C和5-HT3A/3B以及酒精戒断引起的焦虑。OEFOb和ES显示抗惊厥潜力,可通过调节GABAA系统来减轻戊四氮(PTZ)诱导的癫痫发作。通过计算机模拟分析,ES相互作用的潜力证实了抗焦虑和抗惊厥作用。这些研究样品证明了使用这些化合物开发新的抗焦虑和抗惊厥药物的药理学证据和潜力。
    The Ocimum species present active compounds with the potential to develop drugs for treating chronic disease conditions, such as anxiety and seizures. The present study aims to investigate the anticonvulsant and anxiolytic-like effect of the essential oil from O. basilicum Linn (OEFOb) leaves and its major constituent estragole (ES) in vivo on adult zebrafish (aZF) and in silico. The aZF were treated with OEFOb or ES or vehicle and submitted to the tests of toxicity, open-field, anxiety, and convulsion and validated the interactions of the estragole on the involvement of GABAergic and serotonergic receptors by molecular docking assay. The results showed that the oral administration of OEFOb and ES did not have a toxic effect on the aZF and showed anxiolytic-like effects with the involvement of GABAA, 5-HT1, 5-HT2A/2C and 5-HT3A/3B as well on anxiety induced by alcohol withdrawal. The OEFOb and ES showed anticonvulsant potential attenuating the seizures induced by pentylenetetrazole (PTZ) by modulation of the GABAA system. Both anxiolytic and anticonvulsant effects were corroborated by the potential of the interaction of ES by in silico assay. These study samples demonstrate the pharmacological evidence and potential for using these compounds to develop new anxiolytic and anticonvulsant drugs.
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  • 文章类型: Case Reports
    产后出血(PPH)仍然是孕产妇死亡的主要原因,主要归因于子宫收缩。世界卫生组织(WHO)和国际妇产科联合会(FIGO)都认可米索前列醇不仅用于预防而且用于治疗PPH。然而,米索前列醇的给药通常与短暂性发热有关,归因于在某些动物研究中观察到的下丘脑设定点的变化。米索前列醇诱导的高热可偶尔表现为颤抖的前驱症状,特别是当通过舌下途径给药时,与阴道和直肠途径相比,它实现了更高且更快的最大血浆浓度。减少发烧的一般管理策略包括脱衣服和毯子,施加凉爽的压缩,口服对乙酰氨基酚,并确保充分的水化。虽然一些病例报告了米索前列醇引起的惊厥,高热导致惊厥和随后的横纹肌溶解是一种罕见且可能致命的副作用。在这种情况下,我们强调米索前列醇用于治疗PPH,但导致横纹肌溶解的情况.我们的目标是强调米索前列醇的副作用以及考虑将米索前列醇与解热管理初始组合以最大程度地减少与高热相关的副作用的风险并防止其他严重并发症的重要性。
    Postpartum hemorrhage (PPH) remains the leading cause of maternal mortality, primarily attributed to uterine atony. Both the World Health Organization (WHO) and the International Federation of Gynecology and Obstetrics (FIGO) endorse the use of misoprostol not only for the prevention but also for the treatment of PPH. However, the administration of misoprostol is commonly associated with transient pyrexia, attributed to a shift in the hypothalamic set point observed in certain animal studies. Misoprostol-induced hyperpyrexia can occasionally manifest with a prodrome of shivering, particularly when administered via the sublingual route, which achieves a higher and faster maximum plasma concentration compared to vaginal and rectal routes. General management strategies to reduce fever involve removing clothing and blankets, applying cool compresses, administering oral acetaminophen, and ensuring adequate hydration. While some cases have reported misoprostol-induced convulsions, hyperpyrexia leading to convulsions and subsequent rhabdomyolysis is a rare and potentially lethal side effect. In this case presentation, we emphasize a scenario where misoprostol was employed for the treatment of PPH but led to rhabdomyolysis. Our goal is to highlight the side effects of misoprostol and the significance of considering the initial combination of misoprostol with anti-pyretic management to minimize the risk of hyperthermia-related side effects and prevent additional severe complications.
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  • 文章类型: Journal Article
    目的:GABAA受体亚单位突变是遗传性全身性癫痫的重要危险因素;有超过150种识别的变体,许多具有未知或未经验证的致病性。我们旨在开发体内模型,用于使用模型生物测试GABAA受体变体,秀丽隐杆线虫.
    方法:CRISPR-Cas9基因编辑用于创建完整缺失的线虫GABAA受体unc-49,并在内源性unc-49基因中产生纯合癫痫相关突变。用秀丽隐杆线虫unc-49B亚基或人GABAA受体的α1,β3和γ2亚基的转基因拯救了unc-49缺失菌株。分析所有新产生的菌株的表型并与现有的unc-49突变进行比较。
    结果:将整个unc-49基因座完全遗传缺失的线虫与现有的unc-49突变在三个单独的表型分析中进行了比较-协调运动,萎缩频率和癫痫样抽搐。完整的unc-49缺失表现出运动减少,收缩频率增加和PTZ引起的惊厥,但未发现表型强于现有的unc-49突变。用unc-49B亚基进行的挽救或针对GABAA受体的人源化蠕虫的产生对于所研究的所有三种表型均显示出部分表型挽救。最后,分析了两种与癫痫相关的变异,并认为是功能丧失,从而验证其致病性。
    结论:这些发现建立了秀丽隐杆线虫作为研究GABAA受体突变的遗传模型,并为验证任何癫痫相关基因的相关变异描述了一个平台。
    结论:癫痫是一种复杂的人类疾病,可由特定基因的突变引起。已经发现了许多可能的突变,但是他们中的大多数人都不知道他们是否会导致这种疾病。我们使用微小的蠕虫作为动物模型测试了突变在一个特定基因中的作用。我们的结果将这种蠕虫确立为癫痫模型,并证实这两种未知的突变很可能导致这种疾病。
    OBJECTIVE: GABAA receptor subunit mutations pose a significant risk for genetic generalized epilepsy; however, there are over 150 identified variants, many with unknown or unvalidated pathogenicity. We aimed to develop in vivo models for testing GABAA receptor variants using the model organism, Caenorhabditis elegans.
    METHODS: CRISPR-Cas9 gene editing was used to create a complete deletion of unc-49, a C. elegans GABAA receptor, and to create homozygous epilepsy-associated mutations in the endogenous unc-49 gene. The unc-49 deletion strain was rescued with transgenes for either the C. elegans unc-49B subunit or the α1, β3, and γ2 subunits for the human GABAA receptor. All newly created strains were analyzed for phenotype and compared against existing unc-49 mutations.
    RESULTS: Nematodes with a full genetic deletion of the entire unc-49 locus were compared with existing unc-49 mutations in three separate phenotypic assays-coordinated locomotion, shrinker frequency and seizure-like convulsions. The full unc-49 deletion exhibited reduced locomotion and increased shrinker frequency and PTZ-induced convulsions, but were not found to be phenotypically stronger than existing unc-49 mutations. Rescue with the unc-49B subunit or creation of humanized worms for the GABAA receptor both showed partial phenotypic rescue for all three phenotypes investigated. Finally, two epilepsy-associated variants were analyzed and deemed to be loss of function, thus validating their pathogenicity.
    CONCLUSIONS: These findings establish C. elegans as a genetic model to investigate GABAA receptor mutations and delineate a platform for validating associated variants in any epilepsy-associated gene.
    CONCLUSIONS: Epilepsy is a complex human disease that can be caused by mutations in specific genes. Many possible mutations have been identified, but it is unknown for most of them whether they cause the disease. We tested the role of mutations in one specific gene using a small microscopic worm as an animal model. Our results establish this worm as a model for epilepsy and confirm that the two unknown mutations are likely to cause the disease.
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  • 文章类型: Case Reports
    后部可逆性白质脑病是一种罕见的放射临床实体,在过去的二十年中获得了越来越多的认可。它与各种病因有关:动脉高血压,自身免疫性疾病,化疗,和免疫抑制药物。已经报道了一些癌症治疗后的病例。后部可逆性白质脑病的特征是临床体征(头痛,癫痫发作,混乱综合征,和视觉障碍)和放射学异常(脑水肿主要在后部区域)。我们报告了一名38岁的女性患者,该患者在接受卡铂和紫杉醇化疗治疗复发性宫颈癌后被诊断为可逆性后部白质脑病。这是由全身癫痫发作揭示的。脑磁共振成像显示顶枕区的T2Flair超信号。这种并发症很少见,但由于缺乏意识和事后的认识有限,可能未被诊断。快速诊断对于预防急性神经系统并发症至关重要,无论瘤形成如何,都可能危及生命或功能瘫痪。
    Posterior reversible leukoencephalopathy is a rare radio-clinical entity that has gained increasing recognition over the last two decades. It is associated with various etiologies: arterial hypertension, autoimmune diseases, chemotherapy, and immunosuppressive drugs. Several cases have already been reported following cancer therapy. Posterior reversible leukoencephalopathy is characterized by capital clinical signs (headache, seizures, confusional syndrome, and visual disorders) and radiological abnormalities (cerebral edema predominantly in the posterior regions). We report the case of a 38-year-old female patient diagnosed with posterior reversible leukoencephalopathy after receiving Carboplatin and Paclitaxel chemotherapy for recurrent cervical cancer, which was revealed by a generalized seizure. Brain magnetic resonance imaging showed T2 Flair hyper signals in the parieto-occipital regions. This complication is rare but is probably underdiagnosed due to a lack of awareness and limited hindsight. Rapid diagnosis is essential to prevent acute neurological complications, which can be life-threatening or functionally crippling regardless of neoplasia.
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