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 detailed comparison of blood and plasma volumes and of the transcapillary escape rate (TER) of albumin was performed in SHR and matched NCR, particularly during the phase of rapid pressure rise in SHR. Throughout this early phase of life, the relative plasma and blood volumes tend to be lower, and TER higher in SHR, as would be expected when neurogenic mechanisms dominate the initiation of hypertension. Only in late established SHR hypertension, with increasing signs of cardiovascular complications, blood volume tends to be higher in SHR than in NCR. These results are in general agreement with most observations in early essential hypertension in man. They are of interest in contrast to recent findings in another variant of primary hypertension in rats, MHS. Also the apparently quite different initiating mechanisms in SHR and MHS primary hypertension are discussed.
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PMID:Plasma volume, blood volume and transcapillary escape rate (TER) of albumin in young spontaneously hypertensive rats (SHR) as compared with normotensive controls (NCR). 75 45

We investigated 56 families afflicted with malignant hyperpyrexia. One hundred and twenty-four individuals within these families had had an episode of malignant hyperthermia, of whom we saw seventy-two. Serum creatine phosphokinase (CPK) was statistically higher in affected individuals and in close relatives than in normal volunteers. The magnitude of the serum CPK elevations varied significantly between families. While in some families the serum CPK was clearly elevated in affected individuals, in other families the serum CPK was normal or only moderately or inconsistently raised. In these latter families serum CPK measurement was therfore of little or no value in identifying afflicted members. The incidence of musculoskeletal abnormalities was greater in affected individuals and in close relatives than in the general population. Thus, the concomitant individual belonging to a family known to be susceptible to malignant hyperthermia was a better indicator of the MH trait than was the presence of only one of these parameters. For reasons which we do not fully understand, MHS individuals were found to require fewer anaesthetics than normal persons. The incidence of MH crises within each family fell significantly following investigation, counselling, and issuance of Medic-Alert bracelets.
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PMID:Screening of malignant hyperthermia susceptible families by creatine phosphokinase measurement and other clinical investigations. 93 64

The present family investigation has shown that genes within the MHS are mainly responsible for the development of psoriasis or psoriasis-associated arthritic lesions (peripheral arthritis and sacroiliitis). We have hypothetically discussed the possibility that multiple genes, all located within the MHS, act in concert to increase the risk of developing disease to very high levels. This implies that at least two MHS linked genes act in complementary fashion for the development of disease, these genes seem to be able to operate both in the cis and in the trans position. One of these genes would be situated in the chromosomal portion of the MHS which carries the HLA-D locus. Families with a high incidence of disease would show inheritance according to the cis position of genes, when it can be shown that most of the carriers of the specific disease-associated haplotype are affected by disease, whereas in other families, complementarity between two distinct HLA haplotypes with genes acting in the trans position would result in disease.
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PMID:Psoriasis, sacro-iliitis and peripheral arthritis occurring in patients with the same HLA haplotype. A preliminary family report and a hypothetical explanation of the interaction between MHS products. 96 98

The adenosine triphosphate (ATP depletion ratio, which is the ratio [ATP] in skeletal muscle equilibrated with carbogen and 4% halothane for 30 minutes divided by [ATP] in skeletal muscle equilibrated with carbogen alone for 30 minutes is less than normal in most but not in all rigid MHS patients. The ratio is normal in non-rigid MHS patients. This diagnostic tool is, therefore, useful in the diagnosis of rigid MH. It is not, however, such a sensitive diagnostic parameter as the caffeine contracture test.
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PMID:The adenosine triphosphate (ATP) depletion test: comparison with the caffeine contracture test as a method of diagnosing malignant hyperthermia susceptibility. 99 Sep 79

Experiments are described which demonstrate that dantrolene sodium effectively terminates the syndrome of malignant hyperpyrexia induced in susceptible swine by exposure to halothane. Dantrolene is also shown to block initiation of the syndrome of malignant hyperpyrexia by halothane in MHS swine. Therapeutic use of this drug in patients with anaesthetic-induced malignant hyperpyrexia appears to be indicated.
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PMID:Control of the malignant hyperpyrexic syndrome in MHS swine by dantrolene sodium. 114 76

Total calcium content of both human and porcine MHS skeletal muscle is significantly less than normal. This data is consistent with the concept that some organelle (probably the sarcoplasmic reticulum, the mitochondrion or even the sarcolemma) within the MHS muscle stores less than normal amounts of calcium. The large variability between muscle specimens rules out measurement of total calcium content of skeletal muscle as a routine diagnostic test for malignant hyperthermia susceptibility.
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PMID:Total calcium content of skeletal muscle isolated from humans and pigs susceptible to malignant hyperthermia. 114 84

Alloimmune congenic anti-H-2 sera, dependent on the combination of H-2 haplotypes of donor-recipient strains, exert a strong cytotoxic activity against human cells. While strong sera react with almost all samples of human cells, in serial dilutions pronounced differences in strength of reactions can be found with different human cell samples in correlation with their HL-A phenotype. The strongest associations of some anti-H-2f and anti-H-2p sera were found with HL-A2 (r = 0.70 - 0.80), HL-A7 (r = 0.45 - 0.55) and HL-A27 (r = 0.65 - 0.75) (with HL-A27 in groups of patients with high frequency of this antigen r = 0.80 - 0.90). Associations with HL-A9 were also indicated. The reaction pattern itself, as well as absorption and family studies, strongly indicates that for the individual sera the differences in reaction strength are, in essence, quantitative in nature. While it is basically unclear which part of both MHS systems is responsible for the observed cross-reactions, out of several alternatives the hypothesis indicating the polymorphism of common-part structures on H-2 and HL-A molecules seems to be the most plausible.
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PMID:Cross-reactions between the major histocompatibility system of man and mice (HL-A and H-2). Cytotoxic action of anti-H-2 sera on lymphocytes. 121 48

Halothane-induced contractures in isolated muscle fibers from swine susceptible to malignant hyperthermia (MHS) were significantly less when fibers were incubated in KRB plus 6.2 x 10(-6) M dantrolene sodium prior to the administration of 4 per cent halothane. Administration of dantrolene sodium at the time of maximum contraction to NHS fibers in which contractures had been induced by halothane significantly increased the rate of relaxation of these fibers compared with similar fibers not treated with dantrolene sodium. This study indicates possible prophylactic and therapeutic value of dantrolene sodium in malignant hyperthermia and suggests that the previously reported effectiveness of dantrolene sodium in preventing and treating halothane-induced contractures may be due, at least in part, to its direct effect on muscles.
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PMID:Porcine malignant hyperthermia: effect of dantrolene sodium on in-vitro halothane-induced contraction of susceptible muscle. 124 76

Malignant hyperthermia (MH) is a pharmacogenetic myopathy triggered by a variety of anaesthetic agents and muscle relaxants. In humans, susceptibility to MH is inherited as an autosomal dominant trait, and susceptible patients do not show a clinically relevant myopathy unless having suffered from a MH crisis. Homozygosity for the MHS trait is thought to be an uncommon finding, and so far only a few cases of patients suggested to be homozygous for MH on the basis of pedigree information were reported and described as having a more severe form of this condition resulting in clinical symptoms also in the absence of triggering agents. We report clinical findings in a patient with chronic myopathy beginning at the age of 2 yr and associated with a number of unique features, the most important being a family history of MHS present in both parents. She became symptomatic with marked muscular weakness and elevated serum CK levels. A muscle biopsy showed a distinct enlargement and increase of muscle mitochondria. In the in vitro contracture test the patient's muscle responded with unusually high contractures already at basal levels of triggering agents indicating a particularly severe MHS condition. DNA markers for the MHS1 locus, described previously on chromosome 19q12-13.2 in Irish and Canadian pedigrees, could not be used to confirm her homozygous state because our molecular genetic studies had previously excluded the MHS trait in this pedigree from this locus.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Chronic myopathy in a patient suspected of carrying two malignant hyperthermia susceptibility (MHS) mutations. 130 Jan 87

The purpose of this study was to determine the concentration of Ca(2+)-ATPase and Na(+)-K(+)-ATPase in biopsies from vastus lateralis muscle of 24 patients, who underwent a diagnostic contracture test for susceptibility to malignant hyperthermia (MH). Ca(2+)-ATPase was quantified as the Ca(2+)-dependent 32P incorporation in whole muscle homogenates. Na(+)-K(+)-ATPase was quantified as the [3H]ouabain-binding capacity in intact muscle samples. These methods avoid isolation of membranes, a procedure that may influence the results due to interindividual variation in recovery. The results show that both enzymes can be determined in (frozen) muscle biopsies weighing 50 mg. Neither the concentration of Ca(2+)-ATPase nor that of Na(+)-K(+)-ATPase differed in biopsies from subjects diagnosed as susceptible (MHS) or nonsusceptible (MHN) to MH. Our data support the view that changes in the concentration of Ca(2+)-ATPase and/or Na(+)-K(+)-ATPase do not play a primary role in the pathogenesis of MH.
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PMID:Ca(2+)-ATPase and Na(+)-K(+)-ATPase content in skeletal muscle from malignant hyperthermia patients. 131 75


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