Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0024591 (malignant hyperthermia)
 2,353 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A case of rhabdomyolysis after a possible viral infection and the use of a cold medication is reported. A 41-year-old man who presented with dysarthria, dysphagia, progressive weakness of his muscles and a high grade fever was admitted. He suffered from massive rhabdomyolysis, acute renal failure, and bronchopneumonia. Hemodialysis, antibiotics, and hydration therapy were effective in the treatment of his illness. Although the cause of the rhabdomyolysis was not completely clear, he was subsequently shown to be susceptible to malignant hyperthermia (MH) based on the results of a caffeine-halothane contracture test. When a mild recurrence occurred during a follow-up muscle biopsy, intravenous dantrolene sodium was administered and he improved immediately. This case suggests that MH should be considered in patients with rhabdomyolysis when the cause is unclear. The caffeine-halothane contracture test may also be helpful in the diagnosis.
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PMID:Rhabdomyolysis after infection and taking a cold medicine in a patient who was susceptible to malignant hyperthermia. 955 May 99

In North America, the caffeine halothane contracture test (CHCT) is the standard test for the diagnosis of malignant hyperthermia (MH). Current CHCT protocol recommends that the test be completed within 5 h of muscle excision. The purpose of this study was to investigate whether the period of skeletal muscle viability could be extended to 24 h. We tested the gracilis muscle from normal (n = 8) and MH-susceptible swine (n = 8). After baseline (1-2 h after excision) CHCT, the remaining muscles were placed into one of the following four treatment groups. In Groups 1 and 2, the muscles remained under tension and were stored in Krebs buffer (pH 7.4) at 23 degrees C-25 degrees C (clamped-warm) and 4 degrees C (clamped-cold), respectively. In Groups 3 and 4, the muscle strips were dissected, and the ends were tied with silk sutures, cut from the clamp, and placed in Krebs buffer at 23 degrees C-25 degrees C (free-warm) and 4 degrees C (free-cold), respectively. The responses of the treatment groups to halothane (3%) and caffeine (0.5-32 mM) were tested 22-26 h after excision. The clamped-warm storage was the only storage method to correctly diagnose MH susceptibility in all muscle strips tested. This finding was also confirmed in muscle stored under clamped-warm conditions and shipped overnight to another testing center for a parallel CHCT.
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PMID:Prolonging viability of swine muscle biopsy specimens in malignant hyperthermia testing. 1152 56

A 3-year-old Thai boy underwent open reduction and internal fixation with K-wire of condylar fracture of humerus under general anesthesia. The patients developed generalized muscle regidity, masseter muscle spasm, elevated creatinine kinase, high temperature (39.3 C), inappropriate tachycardia, and arterial base excess was more than-8 mEq/L. The clinical grading scale of diagnosis of malignant hyperthermia was 58 (grade D6; almost certain malignant hyperthermia). Succinylcholine has been identified as the trigger agent, as other possible trigger agents were not involved. The treatment included hyperventilation, external cooling and cold IV fluids without administration of dantrolene. The patient fully recovered and discharged on day 12. This case report showed an incidence of malignant hyperthermia of approximated 1:150,000 in Thai Anesthesia Incidents Study (THAI Study).
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PMID:Malignant hyperthermia: a case report in Thai Anesthesia Incidents Study (THAI Study). 1686 89

A sensitive method was proposed and optimized for the determination of total mercury in fish tissue by using wet digestion, followed by cold vapor atomic absorption spectrometry (CVAAS) at the main resonance line of mercury (184.9 nm). The measurements were made using a new type of a non-dispersive mercury minianalyzer. This instrument was initially designed and built for atmospheric mercury-vapor detection. For determining mercury in aqueous samples, the minianalyzer was linked with a mercury/hydride system, Perkin Elmer Model MHS-10. To check the method, the analyzed samples were spiked with a standard solution of mercury. The recoveries of mercury spiked to wet fish tissue were >90% for 0.5 - 0.8 g samples. The results showed a better sensitivity (about 2.5 times higher) when using the mercury absorption line at 184.9 nm compared with the sensitivity obtained by conventional CVAAS at 253.7 nm.
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PMID:Determination of mercury in fish tissue using a minianalyzer based on cold vapor atomic absorption spectrometry at the 184.9 nm line. 1787 89

Dantrolene is the drug of choice in treatment of malignant hyperthermia. However, dantrolene is hepatotoxic; thus prolonged use is not recommended in patients with active hepatic disease such as acute hepatitis or active cirrhosis because it may result in fatal hepatic failure. Use of dantrolene in a patient with end-stage liver disease undergoing liver transplantation (LTx) in whom suspected malignant hyperthermia developed has been reported rarely. Its effect on the liver allograft, which has sustained cold, warm, and reperfusion injuries, is currently unknown. We report a case in which low-dose dantrolene administered intravenously during LTx was effective in treating hyperthermia, hypercapnia, and hyperkalemia. Furthermore, its reported hepatotoxic effect seemed to not affect recovery of the allograft after LTx.
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PMID:Low-dose dantrolene is effective in treating hyperthermia and hypercapnia, and seems not to affect recovery of the allograft after liver transplantation: case report. 2043 Jan 90

Ryanodine receptors (RyRs) are located in the sarcoplasmic/endoplasmic reticulum membrane and are responsible for the release of Ca(2+) from intracellular stores during excitation-contraction coupling in both cardiac and skeletal muscle. RyRs are the largest known ion channels (> 2MDa) and exist as three mammalian isoforms (RyR 1-3), all of which are homotetrameric proteins that interact with and are regulated by phosphorylation, redox modifications, and a variety of small proteins and ions. Most RyR channel modulators interact with the large cytoplasmic domain whereas the carboxy-terminal portion of the protein forms the ion-conducting pore. Mutations in RyR2 are associated with human disorders such as catecholaminergic polymorphic ventricular tachycardia whereas mutations in RyR1 underlie diseases such as central core disease and malignant hyperthermia. This chapter examines the current concepts of the structure, function and regulation of RyRs and assesses the current state of understanding of their roles in associated disorders.
Cold Spring Harb Perspect Biol 2010 Nov
PMID:Ryanodine receptors: structure, expression, molecular details, and function in calcium release. 2096 76

PH caused by anesthesia-induced thermoregulatory inhibition and exposure to cold operating room environments still occurs in a significant proportion of patients undergoing major surgery. Although the association between specific perioperative temperatures (in and of themselves) and postoperative morbidity remains unclear, there is fair evidence to suggest that perioperative active warming may reduce the risk of postoperative cardiac events, bleeding, and SSIs. As such, proactive efforts by surgical teams to prevent PH are warranted and have become the standard of care at many institutions. Continued intraoperative monitoring of core temperature (ideally using esophageal probes) is recommended in all cases lasting more than 30 minutes, both to detect malignant hyperthermia and to maintain normothermia. Preoperative and/or intraoperative use of warmed forced-air devices is an effective way to minimize redistribution hypothermia following induction, whereas intraoperative use of warmed i.v. fluids helps reduce the potential for fluid-induced hypothermia and, in turn, optimizes rates of perioperative normothermia.
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PMID:Perioperative normothermia during major surgery: is it important? 2195 92

Mutations in the skeletal muscle ryanodine receptor (RYR1) gene are a common cause of neuromuscular disease, ranging from various congenital myopathies to the malignant hyperthermia (MH) susceptibility trait without associated weakness. We sequenced RYR1 in 39 unrelated families with rhabdomyolysis and/or exertional myalgia, frequent presentations in the neuromuscular clinic that often remain unexplained despite extensive investigations. We identified 9 heterozygous RYR1 mutations/variants in 14 families, 5 of them (p.Lys1393Arg; p.Gly2434Arg; p.Thr4288_Ala4290dup; p.Ala4295Val; and p.Arg4737Gln) previously associated with MH. Index cases presented from 3 to 45 years with rhabdomyolysis, with or without exertional myalgia (n=12), or isolated exertional myalgia (n=2). Rhabdomyolysis was commonly triggered by exercise and heat and, less frequently, viral infections, alcohol and drugs. Most cases were normally strong and had no personal MH history. Inconsistent additional features included heat intolerance, and cold-induced muscle stiffness. Muscle biopsies showed mainly subtle changes. Familial RYR1 mutations were confirmed in relatives with similar or no symptoms. These findings suggest that RYR1 mutations may account for a substantial proportion of patients presenting with unexplained rhabdomyolysis and/or exertional myalgia. Associated clinico-pathological features may be subtle and require a high degree of suspicion. Additional family studies are paramount in order to identify potentially MH susceptible relatives.
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PMID:Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis. 2362 58

Mutations in the skeletal muscle ryanodine receptor (RYR1) gene are associated with a wide spectrum of inherited myopathies presenting throughout life. Malignant hyperthermia susceptibility (MHS)-related RYR1 mutations have emerged as a common cause of exertional rhabdomyolysis, accounting for up to 30% of rhabdomyolysis episodes in otherwise healthy individuals. Common triggers are exercise and heat and, less frequently, viral infections, alcohol and drugs. Most subjects are normally strong and have no personal or family history of malignant hyperthermia. Heat intolerance and cold-induced muscle stiffness may be a feature. Recognition of this (probably not uncommon) rhabdomyolysis cause is vital for effective counselling, to identify potentially malignant hyperthermia-susceptible individuals and to adapt training regimes. Studies in various animal models provide insights regarding possible pathophysiological mechanisms and offer therapeutic perspectives.
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PMID:RYR1-related rhabdomyolysis: A common but probably underdiagnosed manifestation of skeletal muscle ryanodine receptor dysfunction. 2766 56


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