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.

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.

暂无摘要。

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.

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.

A 32-year-old multigravida woman, with known familial hypokalaemic periodic paralysis, underwent spinal anaesthesia for an elective lower segment caesarean section. There are several case reports in the literature discussing the optimal anaesthetic technique. In the past there has not been an emphasis on aggressive and early potassium replacement. A target level to commence replacement of potassium at 4.0 mmol/L or less is proposed. Careful preoperative preparation, frequent perioperative monitoring and early potassium replacement resulted in no perioperative episodes of weakness in this case, in contrast with other case reports where potassium was either not monitored or not replaced early enough, resulting in postoperative attacks. Another factor to consider in hypokalaemic periodic paralysis is the avoidance of triggers, including certain medications. Misoprostol was used in this instance to avoid potential electrolyte derangements from other uterotonics.

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。.

暂无摘要。

谭某，男，58岁，因“发现左侧腹股沟包块1个月，不能回纳伴疼痛1 d”至某医院外科住院治疗，于住院第4天09：25行“腹腔镜下左侧腹股沟疝无张力修补术”。术中发现患者出现超高热（41.0 ℃），随后生命体征持续变差，中转为开腹手术，12：40出现心搏停止，呼吸机维持呼吸，经抢救无效，于当日14：14宣布临床死亡。.

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.