Malignant Hyperthermia News And Updates

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



Malignant Hyperthermia Family.

Image Caption 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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Last Updated 30/06/2010


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