MHAUS Newsletter, April 2009
In this issue:

CHCT Video Goes Online At MHAUS Website

MHAUS has received numerous questions from medical professionals and patients regarding the Caffeine Halothane Contracture Test (CHCT), thus we felt it appropriate to videotape an "actual" MH muscle biopsy to share with our website visitors.

You can now view this video at http://medical.mhaus.org/index.cfm/fuseaction/video.display/videoId/1.cfm

Please keep in mind the video contains graphic scenes during a surgical procedure and may not be appropriate for all viewers. Discretion is advised.

We will be offering this video in an audio version and in multiple languages in the near future.

The CHCT is performed on freshly biopsied muscle. Considered the "gold standard" for the diagnosis of MH, it can be performed only in roughly 30 centers worldwide, six of which are located in the United States and Canada.  Patients must travel to one of these sites to have the test done, as the lab test must be performed immediately after the muscle section is removed.

For a listing of testing sites, visit http://medical.mhaus.org/index.cfm/fuseaction/Content.Display/PagePK/BiopsyTestCenters.cfm

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MH Registry Completes Move To New Location

The North American Malignant Hyperthermia Registry (NAMHR) of MHAUS has a new home at Mercy Hospital, in the University of Pittsburgh Medical Center, in Pittsburgh, PA.

 

The 1-888-274-7899 number and www.mhreg.org web address remain the same. But the mailing address has changed to: NAMHR, Ermire Building, 8th Floor, 1400 Locust Street, Pittsburgh, PA 15219.

 

The closing of Children’s Hospital at the University of Pittsburgh, where the NAMHR was previously housed, necessitated the move to the new location.  Dr. Barbara Brandom, NAMHR Director and MH Hotline Consultant, said Dr. Andrew Herlich, the new Chief of Anesthesiology at UPMC Mercy Hospital, also an MH Hotline Consultant, was instrumental in negotiating a rent-free lease for the NAMHR at Mercy Hospital.

 

The Registry’s goal is to acquire, analyze and disseminate information regarding MH susceptibility to scientific investigators and physicians caring for MH-susceptible patients. The Registry data is used to conduct research into the pathophysiology, epidemiology, diagnosis and treatment of MH.

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Family Health History Booklets Encourage MHS Patients & Families To Share Medical Information

MHAUS, in partnership with the Genetic Alliance, an organization with a goal to increase information and awareness of many inherited diseases, have developed a new resource for MHS patients and their families.  This resource - family health history booklets - helps families to develop ways to discuss, organize, and preserve their health-related records.

  

Two booklets have been published: one focuses on helping MHS individuals and their family members share medical histories, including information related to MH susceptibility; and the other focuses on explaining genetics and health, with information on many inherited diseases, including MH.

 

The booklets, produced under the guidance of Dr. Sharon Dirksen, MHAUS Scientific Officer, with input from MHAUS medical advisors, are in an easy-to-understand format; individuals who are not health care providers and have only a rudimentary knowledge of medical terminology should find these booklets very user-friendly.

 

These booklets are available free of charge.  For more information, contact MHAUS and ask about “Family Health History Booklets.”

 

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MHAUS Remembers Stephanie Jude Kuleba

On March 22, 2008, 18-year-old Stephanie Jude Kuleba, died of malignant hyperthermia (MH) while undergoing a routine surgical procedure at an ambulatory surgical center (ASC).  The death drew national media attention and cast questions regarding awareness and proper procedures for dealing with an MH event at ambulatory surgical centers across the country.

 

The Kuleba family has been very active in promoting MH awareness on a website dedicated to Stephanie Jude.

 

Please take a moment to visit their website at www.stephaniejudekuleba.org.

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MHAUS Offers Daniel Massik Award

The Malignant Hyperthermia Association of the United States (MHAUS) is pleased to announce the availability of an award in the amount $1,500 to the primary author of a manuscript related to malignant hyperthermia (MH).

 

The Daniel Massik Fund at The Foundation for Jewish Philanthropies in Buffalo, NY was established by Mr. Massik in memory of his son who died from MH. This Award will provide a stipend of $1,500 to an anesthesia resident/fellow or an anesthesiologist who is within five years of ending his/her training to attend the annual meeting of the American Society of Anesthesiologists Meeting or, in special circumstances, another meeting of similar merit.

 

The manuscript format may be a case report, literature review or original study.

 

·          The document should address a significant issue related to the problem of malignant hyperthermia.

 

·          Those participating must currently be a resident fellow in anesthesiology or an anesthesiologist who is within five years of ending his/her training.

 

·          The paper must be a minimum of 3 double-spaced typed pages and a maximum of 10 pages.  Author’s CV should be included.

 

·          The paper must not be in any stage of publication.

 

·          Deadline for receipt of the manuscript in the MHAUS office is August 3, 2009

 

The award will be presented in October at the annual MHAUS Recognition Reception during the Annual Meeting of the American Society of Anesthesiologists in New Orleans October 2009.

 

The winner will be notified by August 31, 2009 to allow for coordination of travel plans.

 

For further information regarding the application process for this award, please contact the Malignant Hyperthermia Association of the United States (MHAUS), attention Gloria Artist, either via regular mail at P. O. Box 1069, Sherburne, NY 13460, via fax at 607-674-7910 or email at gloria@mhaus.org.

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New Study Offers Clue Into Genetics Of MH

A sophisticated study in genetically engineered mice has given us a major new avenue for exploration of the genetics of MH.  Scientists in Italy and at the University of Rochester have looked into the role of a cellular calcium regulating protein called Calsequestrin in MH.
 
Dr. Robert Dirksen, a muscle physiologist, and member of our PAC at the University of Rochester has done a lot of research into the control of cell calcium in normal and MH muscle.  Working with colleagues in Italy who were also interested in calcium movements in muscle, they generated a genetically engineer a mouse that lacked the cardiac form of the calcium regulatory protein, Calsequestrin (CSQ).

 

They noted certain similarities in the effects on heart muscle between such mice and MH susceptible swine and MH susceptible humans even though the defect in MH is related to mutations in the ryanodine receptor.  In order to test the hypothesis that animals deficient in the skeletal muscle form of Calsequestrin would be MH susceptible, they genetically engineered mice deficient in the skeletal muscle form of Calsequestrin. 

 

 

Sure enough, these CSQ deficient animals when exposed to either halothane or heat developed all the signs of MH!  In addition the syndrome could be prevented by pretreatment with dantrolene!  Furthermore many of the cellular changes in muscle isolated from the animals after an episode were similar to those found in MH.  They also made another intriguing observation.

 

The significance of the finding is that we now have a clue to look for DNA changes in the gene that leads to the production of Calsequestrin.  So, this protein, if abnormal, may account for some or all of the cases of MH that do not have a defect or change in the ryanodine receptor protein.  Time will tell.  These studies are important not only for understanding MH, but also for the understanding of the role of cellular proteins in muscle contraction and muscle biochemistry. 

 

To read more about this study, visit the MHAUS President’s Blog at http://www.mhaus.org/presidentsblog/

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MHAUS Challenges Medical Professionals From Every State

MHAUS challenges medical professionals from every state to join MHAUS and become the state with the “most MHAUS memberships.”

 

Membership includes a 30% discount on all educational material purchases such as crisis management supplies, pamphlets, videos, and MH procedure manuals.  In addition, members receive a medical packet of information and the quarterly newsletter “The Communicator.”

 

Find out how to become a member and see how your state is stacking up to the competition by visiting http://medical.mhaus.org/index.cfm/fuseaction/Content.Display/PagePK/2009MedicalProfessionalsChallenge.cfm

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