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 57-year-old man with lung tumor was scheduled for right middle lobectomy under general anesthesia. The patient received glycerin enema 2 hours before anesthesia. Anesthesia was induced with propofol, fentanyl, ketamine and vecuronium. After the induction, urine of dark-red color was drained through the urinary catheter. Massive (3+) occult blood and few erythrocytes in the urine sediment were observed. Furthermore, blood analysis showed hemolysis with mild renal dysfunction (Cr 1.3 mg x dl(-1)). Although serum CPK and myoglobin increased, there was no apparent symptom that supported the onset of rhabdomyolysis induced by anesthetics, acute myocardial infarction or malignant hyperthermia. At this time, we noticed that blood sample taken before the induction had been hemolysed. With all the above information in mind, we suspected that the main cause of the hemoglobinuria could be the enema and the surgery was canceled. The patient made a good progress with laboratory data normalized on the 4th postanesthesia day. However, rectal ulcer developed as a possible late complication of the enema. Although it is well-known that glycerin enema could cause hemolysis, renal failure and rectal ulcer, the increase of CPK and myoglobin in serum made the diagnosis difficult from other conditions leading to rhabdomyolysis in this case.
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PMID:[Case of hemoglobinuria following glycerin enema]. 1757 10

We report an autopsy case of a man in his forties who died 2 days after taking an overdose of vegetamin. The autopsy findings were as follows: externally, the upper epidermis of some parts of the body had become loosened. The epidermis was easily detached from the dermis using the fingers. Viscous fluid adhered around the nose and mouth. The brain was edematous and weighed 1520 g. Skeletal muscle was discolored. The urine was a slightly red-tinged yellow. The organs showed congestion. Urine tests: urea nitrogen: 1.95 g/day; creatinine: 0.66 g/day; urine myoglobin: 1100 ng/mL. Blood level of drugs: phenobarbital: 38.2 microg/ml; promethazine: 2.22 microg/ml; chlorpromazine: 0.96 microg/ml. Immunohistochemistry identified myoglobin in the kidney. From these findings, his cause of death was considered to be vegetamin-induced neuroleptic malignant syndrome and rhabdomyolysis. Mutation of the ryanodine receptor 1 gene is associated with malignant hyperthermia. However, there was no mutation which causes amino acid substitution in the three hot-spot regions of the ryanodine receptor 1 gene. Partial deficiency of carnitine palmitoyltransferase II is the commonest cause of recurrent rhabdomyolysis in adults. The subject was found to be heterozygous for an amino acid exchange in exon 4, (1203)G-->A causing a (368)Val-->Ile amino acid substitution. It is necessary to examine other candidate gene mutations.
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PMID:Genetic analysis of ryanodine receptor 1 gene and carnitine palmitoyltransferase II gene: an autopsy case of neuroleptic malignant syndrome related to vegetamin. 1926 21

Rhabdomyolysis, a term used to describe the rapid breakdown of striated muscle, is characterized by rupture and necrosis of muscle fibers. This process results in the release of cell breakdown products into the bloodstream and extracellular space. Although direct muscle injury remains the most common cause of muscle injury, additional causes include hereditary enzyme disorders, drugs, toxins, endocrinopathies, malignant hyperthermia, neuroleptic malignant syndrome, heatstroke, hypothermia, electrolyte alterations, diabetic ketoacidosis and non-ketotic hyperosmolar coma, severe hypo- or hyperthyroidism and bacterial or viral infections. The classic triad of symptoms includes muscle pain, weakness and dark urine, although more than 50% of the patients do not complain of muscle pain or weakness. Additional systemic symptoms include fever, general malaise, tachycardia, nausea and vomiting. The laboratory diagnosis is based essentially on the measurement of creatine kinase in serum or plasma. Plasma and urine myoglobin measurement might be useful in the early stages of the syndrome and for identifying a subset of patients with minor skeletal muscle injury. Patient monitoring is pivotal (the mortality rate is as high as 8%), and should be focused on preventing the detrimental consequences, that often include renal disease and coagulopathy. In the pre-hospital setting, forced hydration with 1.5-2 L of sterile saline solution should be started immediately, followed by 1.5-2 L/h. Following hospital admission, continuous hydration should be ensured, alternating the saline solution with a 5% glucose solution. In the presence of myoglobinuria, urine should be alkalinized by use of sodium bicarbonate solution. Clin Chem Lab Med 2010;48:749-56.
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PMID:Rhabdomyolysis: historical background, clinical, diagnostic and therapeutic features. 2044 60

We experienced a case of the complications following glycerin enema which suggested malignant hyperthermia. A 73-year-old man with knee osteoarthritis was scheduled for total knee arthroplasty under general and epidural anesthesia. The patient received glycerin enema before surgery. After epidural catheterization, anesthesia was induced with thiopental, fentanyl, vecuronium and sevoflurane. The trachea was intubated and the patient was ventilated with sevoflurane-air-oxygen. Then, cola-like urine was drained and he became febrile up to 37.9 degrees C. Although there were no other symptoms suggesting malignant hyperthermia, the surgery was cancelled. We suspected not only hemolysis by the color of the serum and the blood chemistry, but also rhabdomyolysis by increased levels of serum creatine phosphokinase and myoglobin as well as urine myoglobin. He recovered uneventfully. On the third day, perirectal abscess and anal fissure were diagnosed, which were considered to be the cause of the fever. It is well-known that glycerin enema could cause hemolysis, but rabdomyolysis as a complication of glycerin enema has rarely been reported. We speculate that injection of hypertonic glycerin into the perirectal tissue could have caused rhabdomyolysis as well as hemolysis, which led to cola-like urine. The complications following glycerin enema can be incorporated to a differential diagnosis of malignant hyperthermia.
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PMID:[A case of the complications following glycerin enema which suggested malignant hyperthermia]. 2066 98

Malignant hyperthermia (MH) and central core disease in humans have been associated with mutations in the skeletal ryanodine receptor (RyR1). Heterozygous mice expressing the human MH/central core disease RyR1 R163C mutation exhibit MH when exposed to halothane or heat stress. Considering that many MH symptoms resemble those that could ensue from a mitochondrial dysfunction (e.g. metabolic acidosis and hyperthermia) and that MH-susceptible mice or humans have a higher than normal cytoplasmic Ca(2+) concentration at rest, we evaluated the role of mitochondria in skeletal muscle from R163C compared with wild type mice under basal (untriggered) conditions. R163C skeletal muscle exhibited a significant increase in matrix Ca(2+), increased reactive oxygen species production, lower expression of mitochondrial proteins, and higher mtDNA copy number. These changes, in conjunction with lower myoglobin and glycogen contents, Myh4 and GAPDH transcript levels, GAPDH activity, and lower glucose utilization suggested a switch to a compromised bioenergetic state characterized by both low oxidative phosphorylation and glycolysis. The shift in bioenergetic state was accompanied by a dysregulation of Ca(2+)-responsive signaling pathways regulated by calcineurin and ERK1/2. Chronically elevated resting Ca(2+) in R163C skeletal muscle elicited the maintenance of a fast-twitch fiber program and the development of insulin resistance-like phenotype as part of a metabolic adaptation to the R163C RyR1 mutation.
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PMID:Basal bioenergetic abnormalities in skeletal muscle from ryanodine receptor malignant hyperthermia-susceptible R163C knock-in mice. 2097 28

We report a case of fulminant-malignant hyperthermia that occurred after five uneventful sevoflurane anesthetic procedures. A 7-year-old girl with bronchial asthma was scheduled for closure of palatal fistula under general anesthesia, after five previous uneventful operations under sevoflurane anesthesia. Anesthesia was induced with propofol and vecuronium, and maintained with nitrous oxide, oxygen, and sevoflurane. Body temperature at the beginning of operation was 37.0 degrees C. After 5 hr 10 min, sudden tachycardia and elevations in body temperature and PET(CO2) were noticed. Sevoflurane was discontinued and body surface cooling, hyperventilation with 100% oxygen, and administration of dantrolene sodium 2 mg x kg(-1), furosemide 4 mg, and 7% NaHCO3 solution 10 ml were started on a suspicion of malignant hyperthermia. Body temperature, heart rate, and PET(CO2) reached to 40.1 degrees C, 190 beats x min(-1), and 60 mmHg, respectively, with metabolic acidosis. Twenty minutes after starting dantrolene infusion, these values decreased to 38 degrees C, 150 beats x min(-1), and 39 mmHg, respectively. Laboratory examination showed that serum potassium, CK, AST, ALT, and LDH concentrations and urine myoglobin level were within normal ranges. Clinical symptoms of this patient fulfilled the diagnostic criteria of fulminant-malignant hyperthermia. The trigger drug was considered to be sevoflurane despite the five previous uneventful sevoflurane anesthetic procedures.
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PMID:[Case of fulminant-malignant hyperthermia occurring on sixth sevoflurane anesthesia]. 2171 Jul 67

We present 2 cases of fulminant malignant hyperthermia (MH), complicated with massive rhabdomyolysis. The patients were successfully treated in the intensive care unit of our university teaching hospital, despite the lack of availability of dantrolene in our country, by early application of continuous veno-venous hemofiltration (CVVH). Both male patients developed fulminant malignant hyperthermia during anesthesia for oromaxillofacial surgery. CVVH was employed when the values of creatine phosphokinase (CPK), myoglobin (Mb), and lactate dehydrogenase (LDH) increased significantly. After emergency treatment and CVVH therapy, the values of CPK, Mb, and LDH in the blood plasma of the patients decreased significantly. The complications, including acute renal failure, disseminated intravascular coagulation, and acute respiratory distress syndrome were also treated without any obvious organ damage. Early detection and management are the keys to treat MH successfully. CVVH is a valuable therapeutic application in the initial/critical management of severe rhabdomyolysis. If these complications occur even with initial treatment with dantrolene, our experiences may be useful adjunctive treatments to consider.
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PMID:Continuous veno-venous hemofiltration for massive rhabdomyolysis after malignant hyperthermia: report of 2 cases. 2350 80

Current methods of determining the refractive index of chemicals and materials, such as ellipsometry and reflectometry, are limited by their inability to analyze highly absorbing or highly transparent materials, as well as the required prior knowledge of the sample thickness and estimated refractive index. Here, we present a method of determining the refractive index of solutions using the photoacoustic effect. We show that a photoacoustic refractometer can analyze highly absorbing dye samples to within 0.006 refractive index units of a handheld optical refractometer. Further, we use myoglobin, an early non-invasive biomarker for malignant hyperthermia, as a proof of concept that this technique is applicable for use as a medical diagnostic. Comparison of the speed, cost, simplicity, and accuracy of the techniques shows that this photoacoustic method is well-suited for optically complex systems.
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PMID:Photoacoustic measurement of refractive index of dye solutions and myoglobin for biosensing applications. 2429 7

Malignant hyperthermia (MH) is an autosomal dominant disorder characterized by abnormal calcium homeostasis in skeletal muscles in response to triggering agents. Autopsy, morphology, and genetic analysis were performed on a 19-year-old man who died rapidly after exposure to sevoflurane during maxillofacial surgery. Muscle spasm around the operation area and limb rigidity occurred and renal tubules full of myoglobin casts were observed by microscopy. Ultrastructural changes in the skeletal muscles and the myocardium were detected by transmission electron microscopy (TEM). Genetic analysis disclosed a ryanodine receptor type 1 (RYR1) gene mutation and a nucleoide mutation in chromosome 19q (G1021A) in the deceased and his father. According to the fore mentioned results, the relationship between the cause of death and MH was confirmed. Thus, genetic analysis can be an important procedure in diagnosing MH.
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PMID:Sudden death due to malignant hyperthermia with a mutation of RYR1: autopsy, morphology and genetic analysis. 2910 30

Rhabdomyolysis, the release of myoglobin and other cellular breakdown products from necrotic muscle tissue, is seen in patients with crush injuries, drug overdose, malignant hyperthermia, muscular dystrophy, and with increasing frequency in obese patients undergoing routine procedures. For the perioperative clinician, managing the resultant shock, hyperkalemia, acidosis, and myoglobinuric acute kidney injury can present a significant challenge. Prompt recognition, hydration, and correction of metabolic disturbances may reduce or eliminate the need for long-term renal replacement therapy. This article reviews the pathophysiology and discusses key issues in the perioperative diagnosis, risk stratification, and management of rhabdomyolysis.
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PMID:A "crush" course on rhabdomyolysis: risk stratification and clinical management update for the perioperative clinician. 3242 87


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