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 study of core temperature monitoring during general anesthesia indicates that this can be introduced as a routine procedure in order to reduce mortality from malignant hyperpyrexia. The temperature profiles of 2410 patients are presented. Both mean rectal and mean oesophageal temperatures decreased during general anaesthesia. The mean oesophageal temperatures were on average 0.6 degrees C less than the mean rectal temperatures during the first hour of anaesthesia. An increase in core temperature occurred in nearly 20% of patients. This appeared to be related to an initially low body temperature. Core temperatures during general anesthesia were significantly greater in patients who received the combination of suxamethonium and halothane than in patients receiving other drugs. This observation is of theoretical interest and suggests that the increase of temperature in malignant hyperpyrexia may be an exaggeration of a normal response to these agents.
Br J Anaesth 1980 Dec
PMID:Temperature monitoring during general anaesthesia. 744

Case reports are presented on 4 outpatients with hereditary disorders of metabolism. 1. In a 46-year-old male of Sicilian origin with haemolytic anaemia and leg ulcers, the blood contained numerous target cells, the sickling test was positive, and more than 80% of the haemoglobin was found to be HbS. Investigation of the family revealed double heterozygosity for HbS and beta-thalassaemia. 2. In a family with hereditary nonspherocytic haemolytic anaemic, the biochemical characterization of an abnormal pyruvate kinase is reported: the kinetic data were found to be normal, the electrophoretic migration rate of the abnormal enzyme was increased, and its thermostability was marked decreased. 3. Malignant hyperthermia was observed in an 18-year-old male. The limited value of all methods for identifying affected family members is discussed. 4. In 2 sisters who suffered life-threatening attacks of acute myoglobinuria, differential diagnosis comprised hereditary deficiency of phosphofructokinase, muscle phosphorylase and carnitine palmityl transferase. The activity of the former two enzymes was found to be normal. The circumstances of the myolytic crisis in the two patients provide strong evidence for the presence of a muscle carnitine palmityl transferase deficiency.
Schweiz Med Wochenschr 1980 Dec 06
PMID:[Clinical demonstrations of hereditary disorders of metabolism]. 745 56

A group of 43 pigs from eight litters of purebred Pietrains were identified as malignant hyperthermia susceptible by halothane testing, and their reaction time (measured in seconds from the onset of halothane administration of the onset of skeletal muscle rigidity) was recorded. One week later, these pigs were treated with 0.02, 0.2, 0.5, 1.0 or 2.0 mg/kg of droperidol 1 hour prior to a second halothane test. Pigs with a post-droperidol reaction time of greater than 100.4 seconds (mean + 2.021 SD of initial reaction time) were considered to be protected from malignant hyperthermia. Droperidol afforded some degree of protection at all doses tested. The effective dose50 was determined to be 0.055 with 95% confidence limits of 0.017 to 0.183 mg/kg.
Lab Anim Sci 1980 Dec
PMID:Protection from halothane-induced porcine malignant hyperthermia syndrome by droperidol. 746 35

Pigs, crossbreeds of Swedish Landrace and Yorkshire, about 6 months old and susceptible to develop malignant hyperthermia when exposed to halothane, were subjected to a 12-min experimental stress provoked by the myorelaxant succinylcholine. The experimental pigs were pre-treated before the stress: five were given propranolol for one week, six were given alpha-tocopherol (vitamin E) combined with selenium for 11 days, and five pigs were pre-treated with zinc (ZnSO4) for 1 month. A total of 12 untreated, stress-susceptible pigs served as controls. The blood levels of noradrenaline and adrenaline recorded during the stress were significantly reduced in the groups pre-treated with propranolol or alpha-tocopherol combined with selenium. The results show significant reduction of myocardial necrosis by beta-adrenoceptor-blocking agents and free-radical scavengers during stress-induced increased sympathetic activity.
Zentralbl Veterinarmed A 1994 Dec
PMID:Reduction of heart lesions after experimental restraint stress: a study in stress-susceptible pigs. 765 10

The anaesthetic management for Caesarean delivery of a parturient with a strong family history of malignant hyperthermia (MH) is presented. Before surgery an anaesthetic machine that was in regular use was prepared by replacing all rubber or disposable components and flushing with O2 at 10 L.min-1 for one hour. Dantrolene prophylaxis was not used, and the patient received a bupivacaine and fentanyl spinal anaesthetic. Hypotension was treated with ephedrine. Current management of the MH patient no longer mandates a dedicated vapour-free machine, dantrolene is not indicated as pre-treatment, and amide local anaesthetics are considered safe. The role of vasopressors and ergot preparations is less clear.
Can J Anaesth 1994 Dec
PMID:Anaesthesia for caesarean delivery of a malignant hyperthermia susceptible parturient. 786 20

Single strand conformational polymorphism analysis was used to screen exons 43 and 44 in the skeletal muscle ryanodine receptor gene from 17 positively diagnosed members of families in which chromosome 19-linked malignant hyperthermia (MH) was segregating. A polymorphism in two unrelated individuals was found to result from the substitution of A for G7297, leading to the substitution of Arg for Gly2433. This mutation is adjacent to a mutation (Arg2434 to His) previously linked to MH and central core disease (Y. Zhang et al., Nature Genet. 1993, 5, 46-50). Subsequent screening showed the presence of the mutation in four of 106 MH families tested and its absence from about 1000 other chromosomes. The mutation was present in all six individuals in four families who had had an MH reaction, in two obligate carriers and in 10 individuals diagnosed as MH susceptible by the caffeine/halothane contracture test (CHCT). The mutation was present in an individual with a normal response to the CHCT and was absent in three individuals with a positive CHCT response. These discrepancies would be consistent with inaccuracies in the CHCT and/or with segregation of a second MH allele within two of the four affected families.
Hum Mol Genet 1994 Dec
PMID:The substitution of Arg for Gly2433 in the human skeletal muscle ryanodine receptor is associated with malignant hyperthermia. 788 17

We have examined 48 Danish families in which malignant hyperthermia reactions have occurred, with respect to three of six published mutations in the gene for the calcium release channel of sarcoplasmic reticulum (the RYR1 gene) believed to cause malignant hyperthermia susceptibility in man. The mutations are Arg614Cys, also known as the "pig mutation"; Arg163Cys; and Ile403Met. The only mutation found was Arg163Cys, which was detected in only one family. The results of this study indicate that other mutations must underlie the disorder in most Danish malignant hyperthermia-susceptible families, and that the "pig mutation" is not a frequent cause of malignant hyperthermia susceptibility in Denmark.
Clin Genet 1994 Dec
PMID:Search for three known mutations in the RYR1 gene in 48 Danish families with malignant hyperthermia. 788 56

One 8-month-old female patient, weighted 5 kg, with congenital abnormality (4P- syndrome) underwent elective cheiloplasty for cleft lip and palate. Two hours later, with smooth anesthesia and operation, a life-threatening anesthetic complication of malignant hyperthermia occurred at pediatric intensive care unit. The immediate treatments were initially hyperventilating the patient with 100% O2 and cooling the patient with ice bags. Subsequently, intravenous dantrolene 2.5 mg/kg and symptomatic supportive care were administered successfully to treat the event. Upon reviewing the articles, we found that a congenital chromosome 4P deletion abnormality complicated with a delay onset of malignant hyperthermia has not been described previously.
Acta Anaesthesiol Sin 1994 Dec
PMID:[4P- syndrome (Wolf-Hirschhorn syndrome) complicated with delay onset of malignant hyperthermia: a case report]. 789 26

The tissue distribution of mRNA for ryanodine receptor (ryr) isoforms in various porcine tissues has been determined using the reverse transcription-polymerase chain reaction (RT-PCR). First strand cDNA was synthesized from total tissue RNA with reverse transcriptase and random hexamer primers. PCR primers were selected to amplify an approximately 500-base pair segment from homologous regions near the 5' end of the skeletal (ryr1), cardiac (ryr2), or brain (ryr3) ryr cDNA sequences. The specific amplification of each of the ryr isoforms was confirmed by restriction enzyme mapping and DNA sequencing. A ryr1 RT-PCR product was identified in skeletal muscle and esophagus, a ryr2 RT-PCR product was identified in cardiac muscle, aorta and esophagus, and a ryr3 RT-PCR product was identified in skeletal and cardiac muscle, aorta, esophagus, adrenal gland, small intestine, and lung. All three ryr isoforms were identified throughout the brain, including the parietal, frontal, and temporal lobes of the cerebrum, thalamus/hypothalamus, cerebellum, and brain stem. The normal (Arg615) and mutant (Cys615) ryr1 alleles were expressed in the brains of normal and malignant hyperthermia susceptible pigs, respectively. These results thus demonstrate expression of two ryr isoforms in each type of striated muscle, and all ryr isoforms in a number of regions of the nervous system. The wide distribution of ryr1 in the brain provides a possible neurogenic etiology of malignant hyperthermia.
J Biol Chem 1994 Dec 16
PMID:Tissue distribution of ryanodine receptor isoforms and alleles determined by reverse transcription polymerase chain reaction. 798 22

A young patient developed rhabdomyolysis after accidentally inhaling gasoline vapors. Although there had been no preexistent myopathy, the caffeine and halothane contracture test classified the patient as being malignant hyperthermia-susceptible (MHS). Abnormal contractures also occurred after exposure of muscle bundles to benzine (at 0.01%); in four control tests, benzine-induced contractures (at 0.1%) could be elicited in MHS, but not in normal, muscles. The complex composition of benzine seems to contain potentially hazardous agents that trigger MH.
Neurology 1994 Dec
PMID:Gasoline vapors induce severe rhabdomyolysis. 799 Nov 33


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