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 symptomatic malignant hyperthermia is reported involving a 35-year-old man who suffered a serious cerebral injury after a gunshot to the head and who died from hyperthermia (41.5 degrees C) and tachycardia 1.5 days after dental treatment under general anesthesia. The sceletal muscles did not show any changes that would indicate a myopathy, the CPL value was normal, there was also no familial factor in this case. It is taken as an opportunity here to point out that such a case must not end fatally since there is a drug on the market in the meantime (Dantrolen) which is to be administered i.v. This medication acts causally on the membrane disturbances (release of calcium ions by appropriate trigger substances) which are the underlying cause of the malignant hyperthermia.
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PMID:[Malignant hyperthermia following an old gunshot head injury]. 686 35

The evaluating of palmitate oxidation in muscle tissue may be a useful screening test for detecting defects in fatty acid metabolism in human neuromuscular disease. If the test is to be useful, it is necessary to obtain data on a wide variety of muscle illnesses for comparative purposes. We report our experience with palmitate oxidation, muscle carnitine, and carnitine palmityl transferase (CPT) activity in 148 muscles biopsies from a variety of illnesses. The efficacy of using total protein, citrate synthase, and (1-14C) pyruvate oxidation as internal references was investigated. Palmitate oxidation was significantly less than normal (P less than or equal to 0.01) in Duchenne muscular dystrophy, congenital nonprogressive myopathy, congenital muscular dystrophy, malignant hyperpyrexia, and denervation, depending on the internal reference used. Muscle carnitine levels followed a similar pattern, however, CPT activity did not. The possibility of these findings being secondary to inactivity is discussed.
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PMID:Palmitate oxidation in human muscle: comparison to CPT and carnitine. 708 21

A 51 years old patient underwent 3 urological operations within a short space of time. The anaesthetic procedures (NLA and spinal anaesthesia) caused a rise of temperature, hyperventilation and tremor, suggesting a malignant hyperthermia. The patient refused a muscle bioptical investigation. Biopsies were performed in the patient's children. In the daughter, some "whorled fibres" and single fibre necrosis, interpreted as signs of myopathy, were detected. The clinical syndrome of the father and the histological results of the daughter point out to the possibility that in this family a predisposition to malignant hyperthermia is present.
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PMID:["Malignant hyperthermia" following NLA and spinal anaesthesia (author's transl)]. 710 33

A report is made of a 65-year-old male who died of a malignant hyperthermia of 42 degrees C. Symptoms included muscle rigidity at the termination of operation for neck-clipping of an aneurysm of the anterior communicating artery. Latent myopathy was observed in skeletal muscle, and a bleeding focus was present in the left anterior region of the hypothalamus, coinciding with the temperature regulation center. The mechanism of onset of this disease is still poorly understood, but it seems that this disease occurred due to synergic effects of the hypothalamic hemorrhage and the pre-existing myopathy. The serum CPK level at the time of death was abnormally high (250 U), and 3.4% of isozyme CPK1 was detected. The serum myoglobin was 204, 850 ng/ml, a markedly high level, and myoglobinuric nephrosis was present as a result.
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PMID:Malignant hyperthermia. 711 2

Electromyography, with the aid of telemetry, was used to examine muscles of 4 young and 4 adult pigs from a genetic line highly susceptible to malignant hyperthermia (MH) and 4 young pigs (controls) from a line with no history of susceptibility to MH. In the young pigs, the intercostales, vastus lateralis, triceps brachii, biceps femoris, and gastrocnemius muscles were examined, whereas in the adult pigs only the latter 3 were examined. Spontaneous electrical activity, such as fibrillation potentials and abnormal insertion activity, was not observed in the electromyograms, indicating that neither denervation nor muscle membrane hyperirritability was associated with MH susceptibility in these pigs. Amplitude and duration of motor unit potentials (MUP) in the young MH-susceptible (MHS) pigs were significantly larger (P less than 0.01) and longer (P less than 0.05), respectively, than these values for MUP in the control pigs. These changes are opposite in direction to those expected in a myopathy. The mean values (+/- SD) for amplitude and duration for all muscles were 300 +/- 160 microV and 3.2 +/- 0.7 ms, respectively, in the control pigs and 555 +/- microV and 3.6 +/- 0.3 ms, respectively, in the young MHS pigs. Mean values for amplitude and duration of MUP for the adult MHS pigs were larger than were those for the young MHS pigs, but the differences were not significant (P greater than 0.05).
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PMID:Electromyographic evaluation of malignant hyperthermia-susceptible pigs. 727 Oct 37

Heterogeneity in malignant hyperthermia is being recognized with increasing frequency. In 1973, King described a subgroup of malignant hyperthermia patients with slowly progressive myopathy, short stature, kyphoscoliosis, pectus carinatum, cryptorchidism, and a characteristic facial appearance. Seven cases have been reported, all in males. We present the case of a girl with similar clinical findings who died in a malignant hyperthermia crisis and review the previously reported cases of King syndrome. The delineation of King syndrome provides further evidence for the heterogeneity of malignant hyperthermia and increases awareness of this disorder; its recognition in a female may lead to preoperative diagnosis and prevention of malignant hyperthermia crisis in King syndrome patients.
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PMID:The King syndrome: malignant hyperthermia, myopathy, and multiple anomalies. 728 70

In connection with malignant hyperthermia the afflicted girl and her blood relations from 4 generations were investigated. Noteworthy in the case histories were fractures following minor traumas of the brother and epilepsy in 3 cases. The serum CK was increased in 6 individuals. The EMG showed alterations in 3 participants which pointed to discrete myopathy. The muscle biopsies of patient and parents were normal under microscope and electron microscope. The findings are consistent to the accepted theories of hereditary mode. Due to inadequate means of predicting the onset, early recognition and treatment of malignant hyperthermia remain essential. Promising prohibitive and curative results have been brought about with Dantrolene in animal experiments.
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PMID:[Malignant hyperthermia. II. Investigation of the patient's family (author's transl)]. 737 29

Malignant hyperthermia (MH) is an autosomal dominant myopathy. Molecular genetic studies have shown that the alteration of Arg615 to Cys in the Ca2+ release channel of skeletal muscle sarcoplasmic reticulum (ryanodine receptor) is cosegregated with porcine MH (Fujii, J., Otsu, K., Zorzato, F., de Leon, S., Khanna, V. K., Weiler, J. E., O'Brien, P. J., and MacLennan, D. H. (1991) Science 253, 448-451; Otsu, K., Khanna, V. K., Archibald, A., and MacLennan, D. H. (1991) Genomics 11, 744-750). Here, using the fluorescence calcium indicator indo-1, we determined the concentration of ionized cytosolic calcium in myoblastic cells transfected with either the wild-type or mutated ryanodine receptor cDNA. The cells expressing the mutant ryanodine receptor showed higher sensitivity to caffeine, which induces Ca2+ release from the sarcoplasmic reticulum through the ryanodine receptor. Exposure to clinical doses of halothane resulted in a rapid increase of [Ca2+]i in cells expressing the mutated ryanodine receptor, whereas no [Ca2+] changes were observed in cells expressing the wild-type ryanodine receptor. These results provide definite evidence that a single amino acid mutation, Arg615-->Cys, in the ryanodine receptor is causative of MH.
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PMID:The point mutation Arg615-->Cys in the Ca2+ release channel of skeletal sarcoplasmic reticulum is responsible for hypersensitivity to caffeine and halothane in malignant hyperthermia. 751 86

Children with developmental disabilities (CWDD) who undergo surgery have special needs. The nurse is required to make accurate assessments of the intellectual, psychosocial, and physical state of the child as well as the emotional functioning of the family. The nurse must be aware of the legal implications and his/her own attitudes regarding CWDD. Parents must be accepted as partners with the health care team and open communication should be established. Special concerns for the health care team are latex allergy and malignant hyperthermia. Nursing Care Plans specific to the child with pain, epilepsy, hydrocephalus, myopathy, Down syndrome, myelomeningocele, and cerebral palsy are provided. The material presented here should serve as a basis for nurses to deliver family-centered compassionate care to children and their families who are living with the burdens and enduring the hardships brought about by developmental disabilities.
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PMID:Nursing care of children with developmental disabilities having surgery. 754 85

Inherited neurological diseases in animals are of interest to a wide range of scientific disciplines, particularly because such animals may be suited as genetic animal models for respective human disorders. Because the pig has a number of anatomic and physiologic features similar to those of human beings, this species is becoming increasingly popular in biomedical research. The usefulness of pigs as genetic models of neurological diseases is illustrated by the porcine model of malignant hyperthermia (MH), i.e., a frequently fatal myopathic disease in both pigs and humans. In the present study, we describe a new hereditary movement disorder in Pietrain pigs, which may represent a useful genetic animal model of high-frequency tremor. Because the disorder was first detected in the offspring of a boar named "Campus," we use the term "Campus syndrome" in this respect. Segregation analysis of breeding studies indicates that the syndrome is inherited as a monogenic dominant trait. DNA-based testing of the mutation involved in MH myopathy showed that expression of the Campus syndrome in pigs is not dependent on homozygosity for the MH mutation. In affected pigs, the Campus syndrome develops at an average age of 27 days. The syndrome is characterized by muscular weakness and a very intense tremor of the legs when standing and walking but not when at rest in a lying position. The intensity of tremor and muscular weakness progressively increases with age, resulting in pronounced postural instability. Despite these neurological abnormalities, body weight gain in affected pigs does not differ from that in unaffected siblings.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:The "campus syndrome" in pigs: neurological, neurophysiological, and neuropharmacological characterization of a new genetic animal model of high-frequency tremor. 755 40


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