The Genetic Background to Malignant Hyperpyrexia Revealed by Serum Creatine Phosphokinase Estimations in Asymptomatic Relatives

Isaacs, H; Barlow, M. B.

doi:10.1093/bja/42.12.1077

Cited by 66 publications

(6 citation statements)

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“…Subsequently, Harrison et al (1968) learned that the gas anesthetic, halothane, also was effective in triggering the syndrome in sensitive pigs. A number of cases of MHS occurring in human patients also has been well documented (Britt et al, 1969;Isaacs and Barlow, 1970a, b) as well as in the dog (Short, 1973).…”

Section: Introductionmentioning

confidence: 98%

A Review of the Role of Swine Skeletal Muscle in Malignant Hyperthermia

Campion

Topel

1975

Journal of Animal Science

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The syndrome of malignant hyperthermia (MHS) has been visualized from the point at which sarcoplasmic Ca 2+ concentration becomes sufficient to stimulate phosphorylase kinase and, indirectly, myosin ATPase. Elevated lv 2+ e els of cellular Ca may cause a functional uncoupling of oxidative phosphorylation as the mitochondria utilize high energy intermediates to sequester Ca 2+. Consequently, ATP is consumed, and the cellular levels of ADP and inorganic phosphorus increases, further stimulating glycolysis as the MHS develops. As the mitochondria sequester Ca 2+, 02 consumption is increased and this, in addition to the stimulating effect of temperature, may explain the observed increase in O2 consumption.However, the triggering mechanisms that allow the various body functions, when exposed to halothane, to combine in an abnormal manner to produce what we recognize as malignant hyperthermia remain obscure. (

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Section: Introductionmentioning

confidence: 98%

A Review of the Role of Swine Skeletal Muscle in Malignant Hyperthermia

Campion

Topel

1975

Journal of Animal Science

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“…1, the frequency of elevated CPK values does not differ significantly from generation to generation, and thus the mode of inheritance does not fit into any known system of genetics. This is not in accordance with the literature, which says that malignant hyperthermia is inherited autosomally dominant (DENBOROUGH et al 1962, ISAACS & BARLOW 1970, K Y E I -~N S A H et al 1971, LARARD et al 1972) and that there consequently should be demonstrated decreasing frequency of elevated CPK values by shift of generation.…”

Section: Discussionmentioning

confidence: 57%

Malignant Hyperthermia in a Family: A Clinical and Serological Investigation of 139 Members

Kelstrup

Reske‐Nielsen

Haase

et al. 1974

Acta Anaesthesiol Scand

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In a family of 147 members, two have died from malignant hyperthermia induced by general anaesthesia, and six from other causes. The remaining 139 family members have all been examined clinically and serologically. Forty per cent of the family members had musculoskeletal disorders and 30% had elevated values of creatine phosphokinase in serum.The mode of inheritance is shown not to be autosomal dominant. Doubt is expressed concerning the value of the determination of creatinine phosphokinase (CPK) in serum. It is concluded that it is uncertain whether such determination can predict the risk of the individual patient for developing malignant hyperthermia. Emphasis is laid upon prophylaxis by issuing cards to members of families at risk, by questioning all patients preoperatively about anaesthesiological complications among family members, and by temperature monitoring. It is suggested that any case of malignant hyperthermia give rise to investigation of the family.

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“…She consulted with a neuromuscular specialist colleague, Hyam Isaacs, and together they performed ground-breaking research on the use of creatinine phosphokinase (CPK) as a screening marker of the condition in family members, publishing important findings in 1970, [41,42] with follow-up studies in 1973. [43,44] Although CPK was later shown to be less reliable than muscle biopsy in diagnosing susceptibility to the condition, it was of critical importance in placing malignant hypothermia among the myopathies. [45] In 1975, after a third term as SASA president and nearly 30 years of service, including 3 terms as secretary, 7 Council terms and 9 terms as secretary/treasurer, Ginsberg was made honorary life vice-president of SASA, [3] the Society's highest honour.…”

Section: In Practicementioning

confidence: 99%