malignant hyperthermia

恶性高热
  • 文章类型: Journal Article
    背景:关于医疗保健模拟如何减轻临床医生的压力,已经进行了有限的研究。压力暴露训练(SET)已被证明可以降低压力对表现的影响。在压力接种的背景下,尚未探索将SET与虚拟现实(VR)模拟训练相结合。这项初步研究的主要目的是确定VR模块是否会引起压力。次要目的是确定在模拟环境中重复暴露于应激源是否会降低应激反应。
    方法:医学生被招募参加VR模拟模块,旨在治疗恶性高热(MH)。SET组的人在训练模块期间受到压力刺激,而对照组则没有。然后,两组都在有压力刺激的情况下完成了测试模块。在每个模块后测量压力的客观和主观指标。
    结果:两组均显示训练模块1后的感知压力和模块压力增加,训练模块2后降低。在测试模块之后,对照组的感知压力显著升高(p=.05),SET组的感知模块压力显著降低(p<0.05)。两组在训练模块1后的感知能力下降(p<.001),在训练模块2后的感知能力上升(p<.001),SET组在测试模块后有显著升高(p<.01)。两组都发现VR模块作为教学工具是可行的。客观上,SET组显示从教程到测试模块的皮肤电活动(EDA)呈上升趋势(p<0.05),对照组在训练模块2后显示减少(p=.05),在测试模块后显示增加(p<.01)。
    结论:针对MH的VR模块治疗成功诱导了应激,并被参与者认为是有利的。SET组中的人在测试模块后比对照组中的人感觉到更少的压力和更多的能力。研究结果表明,通过VR反复暴露于压力源可能会使参与者在模拟环境中从未来的压力中脱敏。
    BACKGROUND: Limited research has been conducted on how healthcare simulation can mitigate clinician stress. Stress exposure training (SET) has been shown to decrease stress\'s impact on performance. Combining SET with virtual reality (VR) simulation training has not yet been explored in the context of stress inoculation. The primary purpose of this pilot study was to determine if a VR module could induce stress. The secondary purpose was to determine if repeated exposure to stressors could decrease stress response in a simulated environment.
    METHODS: Medical students were recruited to partake in VR simulation modules aimed at treatment of malignant hyperthermia (MH). Those in the SET group were exposed to stressful stimuli during training modules, while those in the Control group were not. Both groups then completed a Test Module with the presence of stressful stimuli. Objective and subjective indicators of stress were measured after each module.
    RESULTS: Both groups indicated increases in perceived stress and module stressfulness after Training Module 1 and decreases after Training Module 2. After the Test Module, the Control group experienced significant elevation in perceived stress (p = .05), and the SET group had a significant decrease in perceived module stressfulness (p < .05). Both groups had a decrease in perceived competence after Training Module 1 (p < .001) and an increase after Training Module 2 (p < .001), with the SET group having significant elevation after the Test Module (p < .01). Both groups found the VR module to be feasible as a teaching tool. Objectively, the SET group showed an upward trend in electrodermal activity (EDA) from the Tutorial to Test Modules (p < .05), with the Control group showing a decrease after Training Module 2 (p = .05) and an increase after the Test Module (p < .01).
    CONCLUSIONS: A VR module targeting treatment of MH successfully induced stress and was regarded favorably by participants. Those in the SET group perceived less stress and more competence after the Test Module than those in the Control. Findings suggest that repeated exposure to stressors through VR may desensitize participants from future stress in a simulated environment.
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  • 文章类型: Journal Article
    RYR1的致病变体,该基因编码主要的肌浆网钙释放通道(RyR1),在兴奋-收缩偶联中起关键作用,是非营养不良性神经肌肉疾病最常见的遗传原因之一。我们最近进行了一项针对功能损害的问卷调查,疲劳,在整个公认的疾病谱中,RYR1相关疾病(RYR1-RD)患者的生活质量(QoL)。在以前的问卷调查中,我们采取了医学的观点,反映了神经学家和心理学家设计的研究方案。通过本研究,我们希望具体解决患者的观点。
    与受影响的个人一起,家庭成员,以及与RYR1-RD有关的倡导者,我们开发了一项在线患者调查,由227名患者或其父母/其他看护者完成(143名女性和84名男性,0-85岁)。我们邀请了12个人,根据年龄代表大多数患者群体,性别,种族,以及诊断的类型和严重程度,在2022年7月的国际研讨会上分享他们与RYR1-RD生活的个人经历。数据通过混合方法进行分析,同时对调查结果进行定量分析,并对推荐进行定性分析。
    从结合的定量和定性分析中获得的数据为六个主题提供了重要的见解:1)诊断;2)症状和病情的影响;3)身体活动;4)治疗;5)临床研究和研究;和6)期望。
    一起,这项研究为RYR1-RD光谱提供了独特的患者视角,相关疾病的影响,适当的身体活动和对未来治疗和试验的期望,因此,为未来的研究做出了重要贡献。
    UNASSIGNED: Pathogenic variants of RYR1, the gene encoding the principal sarcoplasmic reticulum calcium release channel (RyR1) with a crucial role in excitation-contraction coupling, are among the most common genetic causes of non-dystrophic neuromuscular disorders. We recently conducted a questionnaire study focusing on functional impairments, fatigue, and quality of life (QoL) in patients with RYR1-related diseases (RYR1-RD) throughout the recognized disease spectrum. In this previous questionnaire study the medical perspective was taken, reflective of a study protocol designed by neurologists and psychologists. With this present study we wanted to specifically address the patient perspective.
    UNASSIGNED: Together with affected individuals, family members, and advocates concerned with RYR1-RD, we developed an online patient survey that was completed by 227 patients or their parents/other caretakers (143 females and 84 males, 0-85 years). We invited 12 individuals, representing most of the patient group based on age, sex, race, and type and severity of diagnosis, to share their personal experiences on living with a RYR1-RD during an international workshop in July 2022. Data were analyzed through a mixed-methods approach, employing both a quantitative analysis of the survey results and a qualitative analysis of the testimonials.
    UNASSIGNED: Data obtained from the combined quantitative and qualitative analyses provide important insights on six topics: 1) Diagnosis; 2) Symptoms and impact of the condition; 3) Physical activity; 4) Treatment; 5) Clinical research and studies; and 6) Expectations.
    UNASSIGNED: Together, this study provides a unique patient perspective on the RYR1-RD spectrum, associated disease impact, suitable physical activities and expectations of future treatments and trials, and thus, offers an essential contribution to future research.
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  • 文章类型: Case Reports
    在这个案例报告中,我们讨论了在确诊为恶性高热易感性和肉碱棕榈酰转移酶2缺乏的患者中,使用硫喷酮输注维持麻醉。两种诊断的并发性排除了基于异丙酚的全静脉麻醉和挥发性吸入麻醉的使用。该患者先前曾使用硫喷酮的三重输注方案进行过麻醉,咪达唑仑和瑞芬太尼,这是比较这两种情况的独特机会。在第二次麻醉时,基于脑电图的麻醉深度监测已常规使用,因此,可以相应地调整硫喷酮的输注,导致更快的出现时间。如果丙泊酚输注和吸入麻醉都不是一种选择,我们希望这种情况可以作为合适的麻醉替代方案的例子。
    In this case report, we discuss the use of a thiopentone infusion for the maintenance of anaesthesia in a patient with confirmed malignant hyperthermia susceptibility and carnitine palmitoyltransferase 2 deficiency. The concurrence of both diagnoses precluded the use of both propofol-based total intravenous anaesthesia and volatile inhalational anaesthesia. This patient had been anaesthetised previously with a triple infusion regimen of thiopentone, midazolam and remifentanil and this was a unique opportunity to compare the two instances. Electroencephalogram-based depth of anaesthesia monitoring was in routine use by the time of the second anaesthetic, and thus, the thiopentone infusion could be adjusted accordingly, resulting in a more rapid emergence time. We hope that this case may serve as an example of suitable anaesthetic alternative should both propofol infusion and inhalational anaesthesia not be an option.
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  • 文章类型: Case Reports
    恶性高热(MH)是由挥发性麻醉剂引发的潜在危及生命的药物遗传综合征,琥珀酰胆碱,以及剧烈运动等压力。
    作者描述了一例8岁男性,他在全身麻醉诱导后出现MH的典型症状,对症治疗由于丹曲林不可用而成功完成。
    MH的明确诊断可以基于在氟烷和咖啡因存在下的新鲜肌肉活检中的挛缩测试来进行。在没有肌肉活检和基因检测的情况下,MH的诊断可以根据MH评分进行。
    麻醉医师应该意识到,适当的对症管理也可以挽救患者的生命。此外,应大力倡导确保Danthroene的可用性,并进一步加强实验室设施以确认诊断,以促进将来的诊断和管理。
    UNASSIGNED: Malignant hyperthermia (MH) is a potentially life-threatening pharmacogenetic syndrome triggered by volatile anaesthetics, succinylcholine, and stress such as vigorous exercise.
    UNASSIGNED: The authors describe a case of an 8-year-old male who presented with classical symptoms of MH after induction of general anaesthesia and symptomatic treatment was done successfully due to the unavailability of Dantrolene.
    UNASSIGNED: Definitive diagnosis of MH can be done based on a contracture test in fresh muscle biopsy in the presence of halothane and caffeine. In the absence of muscle biopsy and genetic testing, diagnosis for MH can be done based on MH scoring.
    UNASSIGNED: Anesthesiologists should be made aware that proper symptomatic management can also save the life of a patient. Also, strong advocacy should be done to ensure the availability of Dantrolene and further strengthen lab facilities to confirm diagnosis to facilitate diagnosis and management in the future.
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  • 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: Case Reports
    麻醉医师一直处于解决围手术期患者安全问题的最前沿。因为麻醉没有直接的治疗益处,它的风险必须降到最低。有时手术很简单,但患者的病情使麻醉管理复杂化,增加并发症的风险。本报告描述了诊断为包涵体肌炎(IBM)的成年患者的麻醉管理,一种罕见的炎症性退行性肌病,最初表现为下肢和上肢运动功能下降,导致他卧床两年。由于他的病情进展,他最终出现了吞咽困难,因此他被安排做食管镜检查,环咽注射肉毒杆菌,和经皮内镜胃造瘘术.由于IBM患者存在对神经肌肉阻滞剂过度敏感和呼吸损害的风险,麻醉是由多学科团队方法领导的。围手术期管理以术前优化为中心,防止误吸,避免可能引发恶性高热的麻醉剂,预防术后肺部并发症。住院过程简单,患者在一天后出院。本报告强调了资源的改进,技术,和医疗保健服务,尤其是在麻醉中,帮助预防围手术期不良事件。
    Anesthesiologists have been at the forefront of initiatives addressing perioperative patient safety. As anesthesia has no direct therapeutic benefit, its risk must be minimized. At times the surgery is simple but the patient\'s condition complicates anesthetic management, increasing the risk for complications. This report describes the anesthetic management of an adult patient diagnosed with inclusion body myositis (IBM), a rare inflammatory degenerative myopathy, who initially presented with decreased motor function in both lower and upper extremities causing him to be bedbound for two years. Due to the progression of his disease, he eventually developed dysphagia, hence he was scheduled for esophagoscopy, cricopharyngeal Botox injection, and percutaneous endoscopic gastrostomy. As patients with IBM are at risk for exaggerated sensitivity to neuromuscular blockers and respiratory compromise, anesthesia was at the helm of a multidisciplinary team approach. The perioperative management centered on preoperative optimization, prevention of aspiration, avoidance of anesthetics that may trigger malignant hyperthermia, and prevention of postoperative pulmonary complication. The hospital course was uncomplicated and the patient was discharged well after one day. This report emphasizes how improvements in resources, technology, and healthcare delivery, especially in anesthesia, help prevent perioperative adverse events.
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  • 文章类型: Journal Article
    背景:恶性高热是由特定麻醉药物引发的潜在致命疾病,特别是琥珀酰胆碱(Suxamethonium)的去极化肌肉松弛剂。尽管经常使用琥珀酰胆碱与电惊厥治疗(ECT),目前还没有报道ECT后可能致命的恶性高热的病例.此外,在ECT的背景下,尚未概述琥珀酰胆碱给药与恶性高热发作之间的时间间隔。
    方法:我们介绍了一个79岁女性患有严重抑郁症的案例,在ECT会话期间,由于琥珀酰胆碱的使用而经历了严重的恶性高热。她出现了40.2摄氏度的高烧,140/min的心动过速,血压超过200mmHg的高血压,显著的肌肉僵硬,和意识受损。这些症状在ECT后两小时出现,发生在精神病房而不是手术室,并在不到24小时内达到顶峰。她服用了60毫克丹曲林,这迅速降低了肌肉的刚性。随后,她接受了两剂20毫克和60毫克丹曲林,这使她的发烧降至36.2°C,并在ECT后两天内完全缓解了肌肉僵硬。
    结论:这是首次报道的ECT后潜在致死性恶性高热的病例。此外,它突出了ECT手术后恶性高热的延迟发作,强调精神科医生即使在治疗后也要认识到其发病的必要性。鉴于恶性高热的潜在致命后果,它是至关重要的精神科医生密切监测术中和术后患者的生命体征和特征性的身体表现,及时识别任何症状的出现,并立即用丹曲林治疗。
    BACKGROUND: Malignant hyperthermia is a potentially lethal condition triggered by specific anesthetic drugs, especially a depolarizing muscle relaxant of succinylcholine (Suxamethonium). Despite the frequent use of succinylcholine with electroconvulsive therapy (ECT), there has been no reported case of potentially lethal malignant hyperthermia following ECT. In addition, the time interval between the administration of succinylcholine and the onset of malignant hyperthermia has not been outlined in the context of ECT.
    METHODS: We present the case of a 79-year-old woman suffering from severe depression, who experienced severe malignant hyperthermia due to succinylcholine administration during an ECT session. She presented with a high fever of 40.2 °C, tachycardia of 140/min, hypertension with a blood pressure exceeding 200 mmHg, significant muscle rigidity, and impaired consciousness. These symptoms emerged two hours after ECT, which occurred in a psychiatric ward rather than an operating room, and reached their peak in less than 24 h. She was given 60 mg of dantrolene, which quickly reduced the muscular rigidity. Subsequently, she received two additional doses of 20 mg and 60 mg of dantrolene, which brought her fever down to 36.2 °C and completely eased her muscle rigidity within two days after ECT.
    CONCLUSIONS: This is the first reported case of potentially lethal malignant hyperthermia after ECT. In addition, it highlights the delayed onset of malignant hyperthermia following an ECT procedure, emphasizing the necessity for psychiatrists to recognize its onset even after the treatment. In the light of potentially lethal consequences of malignant hyperthermia, it is critically important for psychiatrists to closely monitor both intraoperative and postoperative patient\'s vital signs and characteristic physical presentations, promptly identify any symptomatic emergence, and treat it immediately with dantrolene.
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  • 文章类型: Journal Article
    神经肌肉疾病患者在围手术期特别容易发生肺部和心脏并发症,或药物副作用。这些风险可能包括通气不足,吸入性肺炎,潜在心肌病恶化,心律失常,肾上腺功能不全,长时间的神经肌肉阻滞,与体温调节有关的问题,横纹肌溶解症,恶性高热,或长时间的机械通气。可以在每个围手术期实施干预以减轻这些风险。仔细的术前评估可能有助于识别风险因素,以便启动适当的干预措施。包括心脏病学咨询,肺功能检查,开始无创通气,或采取预防措施。重要的术中问题包括定位,气道和麻醉管理,和足够的通风。术后期间可能需要纠正电解质异常,用药物控制分泌物,手动或机械咳嗽辅助,避免重新插管的风险,明智的疼痛控制,和适当的药物管理。这项审查的目的是提高对这一弱势群体的特殊手术挑战的认识,并指导临床医生进行可能导致良好手术效果的各种评估和干预措施。
    Patients with neuromuscular diseases are particularly vulnerable in the perioperative period to the development of pulmonary and cardiac complications, or medication side effects. These risks could include hypoventilation, aspiration pneumonia, exacerbation of underlying cardiomyopathy, arrhythmias, adrenal insufficiency, prolonged neuromuscular blockade, issues related to thermoregulation, rhabdomyolysis, malignant hyperthermia, or prolonged mechanical ventilation. Interventions at each of the perioperative stages can be implemented to mitigate these risks. A careful pre-operative evaluation may help identify risk factors so that appropriate interventions are initiated, including cardiology consultation, pulmonary function tests, initiation of noninvasive ventilation, or implementation of preventive measures. Important intraoperative issues include positioning, airway and anesthetic management, and adequate ventilation. The postoperative period may require correction of electrolyte abnormalities, control of secretions with medications, manual or mechanical cough assistance, avoiding the risk of reintubation, judicious pain control, and appropriate medication management. The aim of this review is to increase awareness of the particular surgical challenges in this vulnerable population, and guide the clinician on the various evaluations and interventions that may result in a favorable surgical outcome.
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  • 文章类型: Case Reports
    由于恶性高热(MH)和麻醉诱导的横纹肌溶解症(AIR)的风险增加,对肌病患者的围手术期管理可能具有挑战性。然而,目前,没有证据表明副肿瘤坏死性肌病(PNM)的最佳麻醉管理(全静脉麻醉与挥发性麻醉剂)。这里,我报告了使用挥发性麻醉剂安全进行麻醉的情况。一名63岁的女性,患有与甲状腺乳头状癌相关的PNM,需要紧急甲状腺切除术。病人,先前诊断为抗3-羟基-3-甲基戊二酰辅酶A还原酶(HMGCR)抗体相关肌病,表现出进行性无力和吞咽困难,引起对PNM的怀疑。病人的呼吸状态受损,归因于大甲状腺肿压迫气管,需要紧急甲状腺切除术。麻醉管理考虑因素包括HMGCR-M对呼吸肌的潜在影响以及需要仔细计划以减轻术后并发症。患者接受了甲状腺全切除术,左中央舱间隙,气管造口术.手术进展顺利,细致的监测和调整麻醉剂,以保持血流动力学稳定。术后,病人恢复得很好,在3个月的随访中显示神经系统症状完全缓解.该病例强调了在甲状腺手术中识别副肿瘤综合征的重要性,并强调了麻醉医师面临的潜在挑战。尽管HMGCR-M坏死性肌病的麻醉药物缺乏既定的安全性数据,该案例证明了七氟醚和罗库溴铵的成功使用。
    Perioperative management of patients with myopathies can be challenging due to the increased risk of malignant hyperthermia (MH) and anesthesia-induced rhabdomyolysis (AIR). However, currently, there is no evidence regarding the optimal anesthetic management for paraneoplastic necrotizing myopathy (PNM) (total intravenous anesthetic vs. volatile anesthetics). Here, I report a case where anesthesia was administered safely using volatile anesthetics. A 63-year-old female presented with PNM associated with papillary thyroid carcinoma, necessitating urgent thyroidectomy. The patient, previously diagnosed with anti-3-hydroxy-3-methylglutaryl coenzyme A reductase (HMGCR) antibody-associated myopathy, exhibited progressive weakness and dysphagia, prompting suspicion of PNM. The patient\'s compromised respiratory status, attributed to tracheal compression by a large goiter, necessitated an urgent thyroidectomy. Anesthetic management considerations included the potential effect of HMGCR-M on respiratory muscles and the need for careful planning to mitigate postoperative complications. The patient underwent total thyroidectomy, left central compartment clearance, and tracheostomy. The surgery proceeded uneventfully, with meticulous monitoring and adjustment of anesthetic agents to maintain hemodynamic stability. Postoperatively, the patient recovered well, demonstrating complete resolution of neurological symptoms during a three-month follow-up. The case underscores the importance of recognizing paraneoplastic syndromes in the context of thyroid surgery and highlights potential challenges faced by anesthesiologists. Despite the lack of established safety data for anesthetic drugs in HMGCR-M necrotizing myopathy, the case demonstrates the successful use of sevoflurane and rocuronium.
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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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