malignant hyperthermia

恶性高热
  • 文章类型: Journal Article
    恶性高热(MH),以严重的肌阵鸣为特征,发热,心动过速,高血压,肌肉酶升高,和高碳酸血症,常发生于先天性畸形或遗传性疾病患者。尽管报道的发病率低至1:5000至1:100,000,但MH患者表现出迅速恶化和死亡率升高。因此,MH与大量围手术期风险相关。MH患者的成功治疗在很大程度上取决于早期诊断和及时有效治疗。该临床报告提供了新诊断为MH的患者的详细描述,该患者体温迅速升高,潮气末二氧化碳,上颌骨截骨术时的心率。抢救成功后,患者在术后恢复顺利,表明术中监测的重要性,早期诊断,有效治疗,和术后监测。该病例有望作为未来干预措施和医疗保健实践的参考,以管理其他MH患者。
    Malignant hyperthermia (MH), characterized by severe myoclonus, pyrexia, tachycardia, hypertension, elevated muscle enzymes, and hypercapnia, often occurs in patients with congenital deformities or genetic disorders. Although the reported incidence rate is as low as 1:5000 to 1:100,000, patients with MH exhibit rapid aggravation and an elevated mortality rate. Thus, MH is associated with substantial perioperative risk. Successful treatment of patients with MH largely depends on early diagnosis and timely effective treatment. This clinical report provides a detailed description of a patient with newly diagnosed MH who developed a rapid rise in body temperature, end-tidal carbon dioxide, and heart rate during maxillary osteotomy. After successful rescue, the patient recovered smoothly during the postoperative period, indicating the importance of intraoperative monitoring, early diagnosis, effective treatment, and postoperative monitoring. This case is expected to serve as a reference for future interventions and healthcare practices in managing other patients with MH.
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  • 文章类型: English Abstract
    Perioperative crisis events refer to unexpected seriously life-threatening when the patient is during or after surgery, and require rapid identification, evaluation, and management by clinical teams to minimize harm. The pediatric anesthesia management during perioperative period is special and challenging for anesthesiologists, requiring professional technical and non-technical skills. The article mainly elaborates on the incidence and risk factors of pediatric anesthesia crisis events during perioperative period and introduces the concept of anesthesia crisis resource management and strategies. The anesthesiologist team needs to adopt a crisis resource management strategy, taking a typical crisis event of malignant hyperthermia as an example, including identification of crisis signs immediately, termination of trigger drugs rapidly, intravenous injection of the special drug dantrolene, physical cooling, and symptomatic support treatment, seeking assistance from other teams actively, recording and feeding back. This study aims to improve the cognitive decision-making ability and teamwork ability of anesthesiologists and their teams, effectively preventing and responding to potential crisis events effectively, and ensuring the safety of pediatric patients during perioperative period.
    围手术期危机事件是指在手术期间或手术后发生的、非预料之中的患者生命受到严重威胁的状态,需要临床团队快速识别、评估和管理,最大限度减少对患者的伤害。而围手术期儿科麻醉的管理对于麻醉医师尤其具有特殊性和挑战性,需要麻醉医师具备专业的技术和非技术技能。本文主要阐述围手术期儿科麻醉危机事件的发生率和风险因素,引入麻醉危机资源管理的概念以及处理策略。并以恶性高热典型危机事件为例,介绍了麻醉团队需采取的麻醉危机资源管理策略,包括及时识别危机征兆、迅速终止诱发药物、静注特效药丹曲林钠、物理降温及对症支持治疗、积极寻求其他团队协助、记录和反馈等。以期提高麻醉医师的认知决策能力和团队合作能力,从而有效预防和应对可能发生的潜在危机事件,保障患儿围手术期的安全。.
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  • 文章类型: Case Reports
    恶性高热(MH)是一种致命性高热,通常发生在全身麻醉诱导期间。丹曲林钠是目前用于治疗恶性高热的一种神奇药物。然而,准备,存储,维护丹曲林钠至关重要的是昂贵的,从而使临床医生在经济上不满意,难以及时获得。密切监测患者病情,并在恶性高热早期出现时及时干预,可以有效防止病情恶化,并为丹曲林钠的到来赢得时间。本文将报道一个案例,在该案例中,我们成功地挽救了一个未使用丹曲林钠的恶性高热患儿。
    Malignant hyperthermia (MH) is a fatal hyperthermia with a high mortality, which usually occurs during induction of general anesthesia. Dantrolene sodium is a wonder drug currently used for treating malignant hyperthermia. However, preparing, storing, and maintaining dantrolene sodium are crucially expensive, thus making it financially unsatisfactory and difficult for clinicians to acquire in time. Monitoring patients\' condition closely and intervening promptly when early signs of malignant hyperthermia occur can effectively prevent the condition from worsening and win over time for the arrival of dantraline sodium. This article is to report a case in which we successfully rescued a child occurring malignant hyperthermia without using dantrolene sodium.
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  • 文章类型: Case Reports
    背景:我们描述了1例中枢核心疾病患儿行支气管镜支气管肺泡灌洗的围手术期处理。避免触发剂(挥发性麻醉剂和琥珀酰胆碱)可能可以预防恶性高热(MH)的出现。重要的是要认识到潜在的并发症,并知道如何预防和管理患有这种疾病的患者。
    方法:一个5岁男孩(体重:8.8公斤;身高:63厘米)在间歇性发热(最高体温为39.3°C)和咳嗽五天后被送到儿科,加重1天,与此同时,他喉咙里有痰,但咳嗽不出来。该名儿童在一个月大的体检中被发现有运动障碍,然后遗传分析显示中枢核心疾病。在对症治疗的前提下,行支气管镜支气管肺泡灌洗治疗,以获得更好的治疗效果。
    结论:中枢核心疾病患者尤其是恶性高热,因此,在麻醉诱导前,有足够的预防措施来预防和治疗MH。麻醉医师需要制定足够的术前麻醉管理策略,以确保中央核心疾病患儿进行支气管镜支气管肺泡灌洗的安全性。患儿经抗炎、平喘治疗1周后出院。
    结论:我们总结了中枢核心疾病患者的麻醉预防措施和管理,同时对支气管镜下支气管肺泡灌洗的麻醉重点提出了一些建议。
    BACKGROUND: We described the perioperative management of a child patient with central core disease for bronchoscopy with bronchoalveolar lavage. It is safe to avoid triggering agents (volatile anesthetics and succinylcholine) probably in preventing this appearance of malignant hyperthermia (MH). It is important to recognize potential complications and know how to prevent and manage them in patients with this condition.
    METHODS: A 5-year-old boy (weight: 8.8 kg; height: 63 cm) presented to the pediatric department after five days of intermittent fever (highest body temperature is 39.3 °C) and cough, and aggravation 1 day, meanwhile he had phlegm in throat but he couldn\'t cough out. The child was found to have motor retardation at his one-month-old physical examination, then genetic analysis showed central core disease. Bronchoscopy with bronchoalveolar lavage was performed for better treatment under the premise of symptomatic treatment.
    CONCLUSIONS: The patients with central core disease are particularly to develop malignant hyperthermia, so adequate precautions are in place to prevent and treat MH before anesthetic induction. The anesthesiologists need to make adequate preoperative anesthesia management strategies to ensure the safety of the child with central core disease for bronchoscopy with bronchoalveolar lavage. The child was discharged from the hospital one week after anti-inflammatory and anti-asthmatic treatment.
    CONCLUSIONS: We summarized the anesthetic precautions and management in patients with central core disease, meanwhile we offered some suggestions about anesthetic focus on bronchoscopy with bronchoalveolar lavage.
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  • 文章类型: Case Reports
    背景:恶性高热(MH)是一种罕见但严重的医学并发症,通常在全身麻醉或施用特定麻醉剂后出现。由于MH的频率不高,麻醉师通常缺乏足够的专业知识来识别和管理它,导致误诊和不当治疗。迫切需要通过利用相关工具来加强MH的诊断和管理。
    方法:在这种情况下,一名52岁的妇女在全身麻醉下接受了宫颈癌根治术,没有家族或重大病史。她在很短的时间内经历了潮气末二氧化碳(ETCO2)逐渐增加到最高75mmHg,体温从36.5升高到37.5°C,以及血气分析显示pH值为7.217。
    方法:麻醉师立即使用基于微信小程序的恶性高热国家远程应急系统(MH-NRES),得分为40分,这表明患者很可能患有MH。
    方法:我们立即停止七氟醚,并切换全静脉麻醉以维持全身麻醉,快速静脉输注丹曲林钠。
    结果:ETCO2和温度迅速下降到正常,随后手术成功完成,术后8天患者出院。
    结论:该经验可为MH-NRES的使用提供依据,提高麻醉医师处理术中MH的能力,增加患者的生存概率。
    BACKGROUND: Malignant hyperthermia (MH) is a rare yet serious medical complication that typically arises following general anesthesia or the administration of specific anesthetics. Due to the infrequency of MH, anesthesiologists often lack sufficient expertise in identifying and managing it, leading to misdiagnosis and inappropriate treatment. There is an urgent need to enhance the diagnosis and management of MH through the utilization of relevant tools.
    METHODS: In this case, a 52-year-old woman underwent radical cervical cancer surgery under general anesthesia, with no family or significant medical history. She experienced a gradual increase in end-tidal carbon dioxide (ETCO2) to a maximum of 75 mm Hg and a rise in body temperature from 36.5 to 37.5 °C in a very short period, as well as a blood gas analysis showing a pH of 7.217.
    METHODS: The anesthesiologist immediately used The WeChat applet-based National Remote Emergency System for Malignant Hyperthermia (MH-NRES), and the score was 40, which indicated that the patient was very likely to have MH.
    METHODS: We immediately discontinued sevoflurane and switched total intravenous anesthesia to maintain general anesthesia, with a rapid intravenous infusion of dantrolene sodium.
    RESULTS: The ETCO2 and the temperature quickly dropped to normal, followed by successful completion of the surgery, and the patient was discharged 8 days after surgery.
    CONCLUSIONS: The experience can provide a basis use of MH-NRES and improve the ability of anesthesiologists to deal with intraoperative MH as well as increase the survival probability of patients.
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  • 文章类型: Journal Article
    恶性高热(MH)是一种高死亡率的高代谢综合征。早期发现和及时静脉注射丹曲林对于有效治疗MH至关重要。然而,目前缺乏全面的全国范围内的dantroene和麻醉医师对中国MH的了解。
    在2022年1月至2022年6月之间进行了全国性调查。通过社交平台向中国大陆麻醉医师发送了中国麻醉医师对MH认知的在线调查问卷。有关参与者对MH相关知识的感知的数据,国内丹曲林的可用性,本研究收集了报告的MH病例。
    共收集了来自中国大陆31个省的11,354名麻醉医师的回答。在11个得分问题中,关于MH的治疗药物(99.3%)和MH的特征(98.0%)的问题的准确率最高.相反,与MH最早的临床体征有关的问题的准确率最低(23.5%).不同职称之间的分数存在显着差异(P=0.003),学历(P<0.001),医院分类(P<0.001),和城市等级(P<0.001)。在受访者中,919名(8.1%)麻醉师报告说,他们的医院有丹曲林,631(5.6%)表示不清楚。在这项调查中,共有136家医院报告了至少一例先前的MH病例。
    中国大陆面临挑战,例如诊断和治疗MH的经验不足,以及获得丹曲林的困难。为了提高公众对MH的认识,建立和推广精细化MH培训体系势在必行。此外,应实施简化和快速的丹曲林联动应急系统,以确保迅速获得药物。
    UNASSIGNED: Malignant hyperthermia (MH) is a hypermetabolic syndrome with high mortality rates. Early detection and prompt intravenous administration of dantrolene are crucial for effective management of MH. However, there is currently a lack of comprehensive nationwide surveys on the availability of dantrolene and anesthesiologists\' understanding of MH in China.
    UNASSIGNED: A nationwide survey was conducted between January 2022 and June 2022. Online questionnaires on the cognition of MH among anesthesiologists in China were sent through social platforms to anesthesiologists in mainland China. Data regarding participants\' perception of MH-related knowledge, availability of domestic dantrolene, and reported MH cases were collected in this study.
    UNASSIGNED: Responses were collected from a total of 11,354 anesthesiologists representing 31 provinces across the Chinese mainland. Among the 11 scoring questions, the highest accuracy rates were observed for the question regarding therapeutic drugs for MH (99.3%) and the characteristics of MH (98.0%). Conversely, the question pertaining to the earliest clinical signs of MH had the lowest accuracy rate (23.5%). Significant variations were observed in the scores among different professional titles (P=0.003), academic degree (P<0.001), hospital classification (P<0.001), and urban hierarchy (P<0.001). Of the respondents, 919 (8.1%) anesthesiologists reported dantrolene availability in their hospitals, and 631 (5.6%) indicated unclear. A total of 136 hospitals in this survey reported at least one previous case of MH.
    UNASSIGNED: Mainland China faces challenges such as insufficient experience in diagnosing and treating MH, as well as difficulty in obtaining dantrolene. To improve the public awareness of MH, it is imperative to establish and promote a refined MH training system. Additionally, a streamlined and rapid dantrolene linkage emergency system should be implemented to ensure prompt access to the drug.
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  • 文章类型: Journal Article
    恶性高热(MH)是一种与RYR1,CACNA1S,或STAC3基因。早期认识到MH的发生和及时的药物治疗对于确保积极的结果是必不可少的。本研究旨在通过总结MH的流行病学和临床特征,为MH的早期识别提供有价值的信息。此范围审查遵循Arksey和O\'Malley建议的方法框架。PubMed,Embase,和Webofscience数据库被搜索用于评估MH的流行和临床特征的研究。本综述共纳入37项研究,其中26例与流行病学相关,24例与临床特征相关。MH的发病率从0.18/100000到3.9/100000不等。死亡率在0%-18.2%的范围内。确定的危险因素包括性别,年龄,与MH相关的疾病,和其他人。最常见的初始临床体征包括高热,窦性心动过速,和高碳酸血症。某些迹象的出现,比如高碳酸血症,延迟的第一次温度测量,和峰值温度与不良结果相关。MH的流行病学和临床特征差异很大,并确定了一些危险因素和典型的临床体征。本综述的主要局限性是由于信息有限,治疗和管理策略没有得到充分评估。
    Malignant hyperthermia (MH) is a potentially fatal inherited pharmacogenetic disorder related to pathogenic variants in the RYR1, CACNA1S, or STAC3 genes. Early recognition of the occurrence of MH and prompt medical treatment are indispensable to ensure a positive outcome. The purpose of this study was to provide valuable information for the early identification of MH by summarizing epidemiological and clinical features of MH. This scoping review followed the methodological framework recommended by Arksey and O\'Malley. PubMed, Embase, and Web of science databases were searched for studies that evaluated the epidemical and clinical characteristics of MH. A total of 37 studies were included in this review, of which 26 were related to epidemiology and 24 were associated with clinical characteristics. The morbidity of MH varied from 0.18 per 100 000 to 3.9 per 100 000. The mortality was within the range of 0%-18.2%. Identified risk factors included sex, age, disorders associated with MH, and others. The most frequent initial clinical signs included hyperthermia, sinus tachycardia, and hypercarbia. The occurrence of certain signs, such as hypercapnia, delayed first temperature measurement, and peak temperature were associated with poor outcomes. The epidemiological and clinical features of MH varied considerably and some risk factors and typical clinical signs were identified. The main limitation of this review is that the treatment and management strategies were not assessed sufficiently due to limited information.
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  • 文章类型: Case Reports
    恶性高热(MH)是一种遗传性骨骼肌疾病,主要由基因突变引起,通常在肌肉的钙通道基因中。这种突变可导致对挥发性麻醉药(如七氟醚)和去极化肌肉松弛剂琥珀酰胆碱的肌肉过敏,导致高温,肌肉僵硬,代谢紊乱,和其他严重的生理反应。这种情况可能证明是致命的,除非在早期阶段就被认识到,并且及时积极地进行治疗。我们报道了一名13岁的青少年,他接受了腹腔镜阑尾切除术,并在使用吸入麻醉药后发展为MH,表现为最高温度为44.2°C的持续高温,肌肉僵硬,心动过速,高碳酸血症;和恶性心律失常,心源性休克,高钾血症,新陈代谢,和呼吸性酸中毒.经过早期和及时的识别,丹曲林的多学科管理和管理,该病例得到了成功治疗。外显子组测序显示RYR1基因上的点突变(氨基酸变化):c.12700G>C(p。Val4234Leu)。由于我们医院缺乏现成的丹曲林,在这种情况下,患者在首次观察到高体温后仅6小时接受了丹曲林治疗。我们回顾了这种疾病的发展,并总结了治疗的成功,以及如果丹曲林不能及时获得,可以做些什么来提高挽救患者生命的机会。
    Malignant hyperthermia (MH) is an inherited skeletal muscle disorder caused primarily by a genetic mutation, usually in the calcium channel gene of the muscle. This mutation can lead to muscle hypersensitivity to volatile anesthetics (such as sevoflurane) and the depolarizing muscle relaxant succinylcholine, resulting in hyperthermia, muscle stiffness, metabolic disturbances, and other severe physiological reactions. This condition may prove fatal unless it is recognized in its early stages and treatment is administered promptly and aggressively. We report a 13-year-old adolescent who underwent laparoscopic appendectomy and developed MH after the use of inhalational anesthetics, manifested by unremitting hyperthermia with a maximum temperature of 44.2°C, muscle rigidity, tachycardia, hypercapnia; and malignant arrhythmias, cardiogenic shock, hyperkalemia, metabolic, and respiratory acidosis. After early and timely recognition, multidisciplinary management and administration of dantrolene, the case was successfully treated. Exome sequencing revealed a point mutation (amino acid change) on the RYR1 gene: c.12700G>C(p.Val4234Leu). Due to the lack of ready-made dantrolene in our hospital, the patient in this case received dantrolene treatment only 6 h after the first observation of high body temperature. We review the development of the disease and summarize the success of treatment and what can be done to improve the chances of saving the patient\'s life if dantrolene is not available in time.
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  • 文章类型: Journal Article
    背景:恶性热疗(MH)在中国是一种罕见的麻醉急症,死亡率很高。我们开发了基于微信小程序的恶性高热国家远程应急系统(MH-NRES),以提供实时应急系统,帮助中国麻醉师应对MH危机。然而,必须密切关注小程序的可用性。
    目的:本研究的目的是(1)评估基于小程序的MH-NRES对麻醉医师的可用性;(2)测试改良的mHealthapp可用性问卷的有效性和可靠性。
    方法:设计了移动应用程序评级量表(uMARS)的修改用户版本。连同系统可用性量表(SUS)和研究后系统可用性问卷(PSSUQ),另外两份经过验证的问卷,然后使用uMARS来评估MH-NRES的可用性。计算总分和uMARS子量表的Cronbachα以评估内部一致性。计算了3份问卷的相关系数。
    结果:在这项研究中,118名麻醉师对问卷做出了回应。整体平均uMARS评分为4.43±0.61,范围为3至5。平均PSSUQ评分在良好到良好的范围内,平均值为6.02±0.97,范围为3.19至7。总体SUS评分为76.0±17.6,范围为45至100。总uMARS评分具有优异的内部一致性(Cronbachα=0.984)。uMARS及其分量表与PSSUQ(系数0.758-0.819,P<0.001)和SUS(系数0.535-0.561,P<0.001)密切相关,分别。
    结论:从本研究的可用性评估问卷中获得的数据表明,MH-NRES在易用性方面的质量很高,满意度和感知有用性,这表明该系统可能是麻醉医师教育和管理MH危机的有用工具。未来需要来自高保真模拟和临床场景的反馈,以进一步评估该系统的可用性。
    Malignant hyperthermia (MH) is a rare anesthetic emergency with a high mortality rate in China. We developed a WeChat applet-based National Remote Emergency System for Malignant Hyperthermia (MH-NRES) to provide a real-time emergency system to help Chinese anesthesiologists deal with MH crises. However, it is imperative that close attention should be paid to the usability of the applet.
    The objectives of this study were to (1) evaluate the usability of the applet-based MH-NRES for anesthesiologists; and (2) to test the validity and reliability of a modified mHealth app usability questionnaire.
    A modified User Version of the Mobile Application Rating Scale (uMARS) was designed. Together with System Usability Scale (SUS) and Post-Study System Usability Questionnaire (PSSUQ), another two well-validated questionnaires, uMARS were then used to evaluate the usability of MH-NRES. The Cronbach alpha of the total score and the subscales of uMARS was calculated to evaluate the internal consistency. The correlation coefficients among three questionnaires were calculated.
    In this study, 118 anesthesiologists provided responses to the questionnaire. The overall mean uMARS score was 4.43 ± 0.61, which ranged from 3 to 5. The mean PSSUQ score were in good to excellent range with mean of 6.02 ± 0.97, which ranged from 3.19 to 7. The overall SUS score was 76.0 ± 17.6, which ranged from 45 to 100. The total uMARS score had excellent internal consistency (Cronbach alpha = 0.984). uMARS and its subscales were strongly correlated with PSSUQ (coefficient 0.758-0.819, P < 0.001) and SUS (coefficient 0.535-0.561, P < 0.001), respectively.
    Data obtained from the usability evaluation questionnaires in this study indicated a high quality of the MH-NRES on the ease of use, satisfaction and perceived usefulness, which suggest this system might be a useful tool for anesthesiologists\' education and management of MH crises. Future feedback from high-fidelity simulation and clinical scenarios are need for further usability evaluation of this system.
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