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Malignant Hyperthermia News and Updates

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Latest Malignant Hyperthermia news, updates and numbers of patients investigated.
Malignant Hyperthermia Family
Malignant Hyperthermia Family
 

Year 2004

No. patients investigated by IVCT = 34
MHS =10
MHN=19
MHE=5
New families identified = 3
Total no. NZ MH susceptible families =48 
 

Year 2003

No. patients investigated by IVCT = 27
MHS (positive) test results - 9
MHN (negative) test results - 13
MHE (equivocal) test results - 5
New families identified - 2
Total no. NZ MH susceptible families - 45
 

Year - 2002

No. patients investigated by IVCT - 32
MHS (positive) test results - 9
MHN (negative) test results - 20
MHE (equivocal) - 3
New families identified - 4
Total Number of New Zealand MH susceptible families - 40
 

Year - 2001

No. patients investigated by IVCT - 32
MHS (positive) test results - 6
MHN (negative) test results - 23
MHE (equivocal) - 3
 
Mutations identified in New Zealand families
Arg2454His
Arg401Cys
His4833Trp - 4 families
Thr4826Ile
Gly341Arg
Arg163Cys
Arg2452Trp
Gly2434Arg
T2206M - 2 families
 

Year 2004 - DNA Analysis

TEST
 +ve
 -ve
 TOTAL
 
T4826I
 21
 8
 29
 
G2434R
 4
 7
 11
 
R163C
 1
 1
 2
 
R401C
 1
 -
 1
 
H4833W
 6
 10
 16
 
R2452W
 4
 -
 4
 
T2206M
 3
 4
 7
 
TOTALS
 40
 30
 70
 
 

Year 2002 - DNA Analysis

TEST
 +ve
 -ve
 
T4826I
 41
 91
 
H4833W
 4
 3
 
G2434A
 3
 2
 
A401C
 -
 1
 
A2452T
 1
 -
 

Publications/Presentations 

Malignant Hyperthermia with exercise induced Rhabdomyolysis
M. Davis, R. Brown et al. Br J Anaesth 2002; 88($): 508-515

Protocol for Management of Malignant Hyperthermia poster
Approved by the Australian and New Zealand College of Anaesthetists. Available from Helen Morris - helen@anzca.edu.au.

Suspected Malignant Hyperthermia Reactions in New Zealand
Pollock AN, Langton EE et al. Anaesthesia and Intensive Care 2002;30:453-461
 
Safe duration of postoperative monitoring of MH susceptible patients.
Pollock N, Langton E, Stowell K et al. Anaesthesia and Intensive Care 2004;32:502-9
 

Current articles of interest

Testing for malignant hyperthermia
Rosenberg H et al. Anesthesiology 2002; 96(1): 232-7

Malignant Hyperthermia
Wappler F. European Journal of Anaesthesiology 2001; 18(10): 632-652

Genotype-Phenotype comparison of the Swiss malignant hyperthermia population
Girard T et al. Human Mutation 2001;18(4): 357-8

Malignant Hyperthermia associated with exercise induced rhabdomyolysis and congenital abnormalities
Davis M et al. Br J Anaesth 2002; 88(4): 1-8

A novel RYR1 mutation in a large New Zealand Malignant Hyperthermia Maori Pedigree
Brown RL et al. Human Molecular Genetics 2000; 9(10): June 12th

The role of Ion-Regulatory membrane proteins of excitation-contraction coupling.
Froemming GF et al. Frontiers in Bioscience 2001; 6; 65-74

Malignant Hyperthermia and Central Core Disease: Disorders of Calcium release channels
Loke J et al. American Journal of Medicine 1998; 104: 470-86

A breakthrough in the genetic diagnosis of MH
Robinson RL, Hopkins PM. Br J Anaesth 2001; 86(2): 166-8

Malignant Hyperthermia: advances in clinical management and diagnosis
Hopkins PM. Br J Anaesth 2000; 85(1): 118-28

"Noninvasive" Testing for Malignant Hyperthermia Susceptibility
Allen PD. Anaesthesiology 2002; 97; 1045-6

 

Current Projects

  1. IVCT using sevoflurane
  2. Functional analysis of RYR1 mutations.
 

Malignant Hyperthermia Workshop 

 This First Combined New Zealand & Australia Meeting was held in Palmerston North, N.Z. on the 15th of November 2002, sponsored by Abbott Laboratories (NZ) Ltd and Organon.

The one-day workshop offered presentations from speakers involved in various aspects of Malignant Hyperthermia, including genetics.

It was subsequently decided to hold the meetings yearly. The 2003 meeting was held in Melbourne, organised by Dr Robyn Gillies, and the 2004 meeting in Sydney organised by Dr Neil Street. The 2005 meeting is to be held in September in Perth - organiser Dr Mark Waddington.
 

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