A search for three known RYR1 gene mutations in 41 Swedish families with predisposition to malignant hyperthermia

Eight mutations in the gene (the RYR1 gene) encoding the calcium release channel of sarcoplasmic reticulum (SR) in skeletal muscle are so far known to be very closely linked to malignant hyperthermia susceptibility in man and are regarded to be causative. We have examined 41 Swedish families where malignant hyperthermia had occurred in at least one member during anaesthesia, with respect to three of the known mutations. The mutations were Arg163Cys; Ile403Met and Arg614Cys (also known as the "pig mutation"). In three (i.e. 7%) of the families we detected the Arg614Cys mutation, and this was the only one of the mutations searched for that was observed. This indicates that other mutations than those searched for in this study must cause malignant hyperthermia susceptibility in most Swedish malignant hyperthermia susceptible families.     

200MHz的H面号角环形相控阵系统热疗深部肿瘤的研究

本文提出并研究了一种新型的电磁热疗系统-H面号角环形相控阵系统。推导出了适应性广的理论公式。以肺部CT图为模型,用矩量法计算得到了胸腔横断面内电场分布及吸收功率分布的计算机数值结果。结果表明,在200MHz的电磁波辐射下,适当调节阵列各单元的相位,振幅和位置,肺部肿瘤可得到优化的选择性加热,从而达到最佳的热疗效果。     

A case of “myopathy with tubular aggregates” with increased muscle fibre sensitivity to caffeine

Summary A 23-year-old man with myopathy with tubular aggregates had suffered from exercise-induced muscle cramps for 1 year. His general and neurological findings were normal. Laboratory investigations were within normal limits except for a slightly elevated serum creatine kinase level. Muscle biopsy showed some small angular fibres and scattered type 2B fibres with prominent tubular aggregates originating from the sarcoplasmic reticulum. Since the muscle fibres contracted at a lower concentration of caffeine, increased muscle fibre sensitivity to caffeine is probably related to muscle cramps in this disorder. Tubular aggregates are then secondarily formed in the muscle fibres.     

Postanesthetic malignant hyperthermia with convulsions

Journal of Anesthesia -     

Malignant hyperthermia 2020

Malignant hyperthermia is defined in the International Classification of Diseases as a progressive life-threatening hyperthermic reaction occurring during general anaesthesia. Malignant hyperthermia has an underlying genetic basis, and genetically susceptible individuals are at risk of developing malignant hyperthermia if they are exposed to any of the potent inhalational anaesthetics or suxamethonium. It can also be described as a malignant hypermetabolic syndrome. There are no specific clinical features of malignant hyperthermia and the condition may prove fatal unless it is recognised in its early stages and treatment is promptly and aggressively implemented. The Association of Anaesthetists has previously produced crisis management guidelines intended to be displayed in all anaesthetic rooms as an aide memoire should a malignant hyperthermia reaction occur. The last iteration was produced in 2011 and since then there have been some developments requiring an update. In these guidelines we will provide background information that has been used in updating the crisis management recommendations but will also provide more detailed guidance on the clinical diagnosis of malignant hyperthermia. The scope of these guidelines is extended to include practical guidance for anaesthetists dealing with a case of suspected malignant hyperthermia once the acute reaction has been reversed. This includes information on care and monitoring during and after the event; appropriate equipment and resuscitative measures within the operating theatre and ICU; the importance of communication and teamwork; guidance on counselling of the patient and their family; and how to make a referral of the patient for confirmation of the diagnosis. We also review which patients presenting for surgery may be at increased risk of developing malignant hyperthermia under anaesthesia and what precautions should be taken during the peri-operative management of the patients.     

Combined treatment of pelvic exenterative surgery and intra-operative pelvic hyperthermochemotherapy for locally advanced rectosigmoid cancer: Report of a case

A huge rectosigmoidal cancer which extended into the urinary bladder in a 64-year-old man is herein described. The tumor occupied the pelvic and lower abdominal cavities, while the rectosigmoid was totally obstructed. No hepatic or pulmonary metastasis was evident. The ventral and flank sides of the peritoneum in the right lower abdomen, right common iliac vessels, bilateral ureters, terminal ileum, cecum, ascending colon, and urinary bladder were all directly invaded by the tumor, but the aorta, sacrum, and lower rectum were free of cancer. Consequently, an anterior pelvic exenteration was carried out along with an ileal conduit and a right hemicolectomy. Immediately after the exenteration, intra-pelvic hyperthermochemotherapy was performed using a 46–47°C perfusate containing 40 g/ml of mitomycin C (MMC) and 200 g/ml of cisplatin (CDDP), for 90 min, in an attempt to prevent any further local recurrence. A right hemicolectomy and a permanent colostomy were done simultaneously with the hyperthermia treatment. After an uneventful postoperative course, the patient was prescribed adjuvant chemotherapy, i.e., two administrations of 17 mg/m² and 21 mg/m² of MMC, and ten doses of 710 mg/m² of 5-fluorouracil (5-FU) followed by five doses of 535 mg/m² of 5-FU. At the time of this writing, the patient is still alive without recurrence at 21 months after surgery.     

51例微波内镜疗法的临床应用

用微波内镜腔内加热疗法治疗51例不同病种的患者,结果显示,食管、胃、肠道息肉的治愈率为97.3%(36/37);食管癌吞咽困难缓解率为33%(1/3),且以息肉样隆起型疗效较好。灼除广基息肉时用“顶部法”,而对有蒂息肉则用“基底两侧法”为佳。微波对组织的作用强度与组织承受天线的压力、仪器的功率、天线接触组织的时间关系密切。该疗法显示出价廉、简便、安全、实用,无严重并发症等优点。     

加热对人肝癌耐药细胞模型-7721/Adm细胞内药物浓度的影响

目的 探讨比较43℃加热前后人肝癌细胞－7721（以下简称7721细胞）和耐药人肝癌细胞模型－7721／Adm(以下简称7721／Adm细胞）细胞内阿霉素（ADM）药物浓度的变化。方法 以体外培养的人肝癌细胞－7721和作自行培养建立的人肝癌细胞模型－7721／Adm为研究对象,采用水浴加温法、流式细胞荧光技术观察阿霉素化热前后7721和7721／Adm细胞胞内阿霉素（ADM）浓度的变化。结果 加热后7721组提高30．8％,HCC－7721／Adm组提高51％。结论 加热可明显提高这两种细胞内的阿霉素浓度,从而提高这两种细胞的化疗敏感性,为临床克服多药耐药问题提供了重要依据。