MHAUS Newsletter, August 2008

In this issue:

• You're Invited To The MHAUS Recognition Reception
  RSVP to attend the annual MHAUS Recognition Reception on October 20, 2008 during the American Society of Anesthesiologists Meeting in Orlando, FL.
• Still time To Register For The MH Mini-Conference
  For a very minimal cost you can attend the annual MH Mini-Conference in Tampa, FL on September 27 and 28. The conference is for medical professionals and MH-susceptibles and their families.
• MH Genetic Testing Labs Report Increased Interest, Expanded Tests
  The University of Pittsburgh Medical Center and PreventionGenetics, LLC have issued reports on the latest genetic testing for MH-susceptibility.
• Medical Professional Praises MH Hotline Help
  A doctor from Lake Granbury Medical Center in Texas contacted the MH Hotline when presented with a difficult case and found a helpful colleague on the other end.
• Malignant Hyperthermia and Muscular Dystrophies Abstract Available Online
  An abstract presented during the Society for Pediatric Anesthesiology (SPA) meeting in San Diego, California is now available on the MHAUS website.

You are cordially invited to attend the annual Malignant Hyperthermia Association of the United States (MHAUS) Recognition Reception at the American Society of Anesthesiologists (ASA) Meeting in Orlando, FL on October 20, 2008. The reception honors the recipients of the 2008 Hotline Partnership Award, the Daniel Massik – MHAUS Anesthesiology Residents Award, and the MHAUS Media Award.

 

The reception will be held at Rosen Plaza Hotel, Salon 4 Room, Second Floor, 9700 International Drive, Orlando, Florida, from 6:00 pm to 8:00 pm. Please RSVP by September 19, 2008 via phone at 607-674-7901, fax to 607-674-7910, or email Gloria@mhaus.org.

 

The Hotline Partnership Award is given to highlight the partnership between a Hotline Consultant and a Medical Professional contacting the MH Hotline for help. The Daniel Massik – MHAUS Anesthesiology Residents Award in the amount of $1,500 is provided to the primary author of a manuscript related to malignant hyperthermia (MH), who is either an anesthesia resident/fellow or an anesthesiologist within five years of ending his/her training. The MHAUS Media Award is given to a member of the media who best helps promote awareness of MH and MHAUS.

 

The 2008 Annual Meeting of the ASA takes place in Orlando, FL from October 18-22, 2008. For information about the ASA meeting and to register, visit http://www2.asahq.org/web/index.asp. To search for MH-related abstracts being presented at the ASA Meeting visit http://www.asaabstracts.com/strands/asaabstracts/search.htm;jsessionid=60D5B396382C6AADE1D68B89D50BFBFC and type “MH” into the title.

The Malignant Hyperthermia Association of the United States (MHAUS) is holding its annual Malignant Hyperthermia (MH) Mini-Conference at the Tampa General Hospital in Tampa, Florida on September 27 and 28, 2008. The cost to attend this valuable conference is only $25.00 for medical professionals and $15.00 for MH-susceptible patients and their families.

 

The conference provides updates by medical professionals on the status of MH research and testing, which includes the latest on molecular genetic testing, discussion on how to recognize and treat MH, and a question and answer session where medical professionals and MH-susceptible patients can share experiences. The conference also includes a “mock” MH drill, as well as information and tools that MH-susceptible patients can use and share with their anesthesia care provider. The plan is to repeat the topics on both days to better accommodate the schedules of attendees.

 

Our speakers include MHAUS President Henry Rosenberg, MD, CPE, Saint Barnabas Medical Center in Livingston, NJ. We are also privileged to have Deanna Steele, a genetic counselor from Magee Women’s Hospital Center for Medical Genetics in Pittsburgh, PA. Ms. Steele will provide a clearer understanding of the role genetics can play in the clarification of MH for both the patient and the medical professional. Also speaking is Mohanad Shukry, MD, Children’s Hospital of Oklahoma, OK, Assistant Professor of Anesthesiology at University of Oklahoma and an MH Hotline Consultant.

 

The conference is being developed by MHAUS’ Patient Liaison Committee in coordination with Brian Cowin, RN, BSN of Critical Intervention Educators, Inc., based in Tampa.

 

MHAUS invites all interested persons to attend its MH Patient Mini-Conference. Visit www.mhaus.org or email info@mhaus.org or call 607-674-7901 for registration and details. If you would like to request that you or your facility be put on a waiting list for an upcoming conference, please contact Fay Kellogg at fay@mhaus.org.

The availability of molecular genetic testing for susceptibility to malignant hyperthermia (MH) represents a new era for those interested in and affected by MH. To date, there are two labs in North America that provide molecular genetic testing for MH-susceptibility.    

The University of Pittsburgh Medical Center (UPMC), Center for Medical Genetics http://path.upmc.edu/divisions/mdx/diagnostics.html  a CLIA-certified laboratory that has broad experience testing for and interpreting DNA sequence variants in other disorders, began to offer molecular genetic testing for MH in December 2005.

PreventionGenetics LLC http://www.preventiongenetics.com  a biotechnology company focused on molecular genetics (CLIA-certified), located in Marshfield, Wisconsin, began to offer molecular genetic testing for the diagnosis of MH in mid 2005.

“Interest seems somewhat more brisk this year than 2006 or 2007,” says Jeffrey Kant, MD, PhD, Professor of Pathology and Human Genetics at UPMC.

Of the 96 samples tested by UPMC through June 2008, most have been for the “hot spot” panel, with approximately a half dozen for one exon, given the presence of a known mutation in a family. Kant reported one synonymous exonic polymorphism not previously described, a few novel “deep” intronic polymorphism not previously described, and lots of previously described polymorphic loci in exons and introns.

Jim Weber, PhD, President PreventionGenetics, says his company has begun work on new technology which might substantially reduce DNA tests costs over the next few years. Presently, testing at PreventionGenetics has gone from three tiers to two, with the first available for the same price as before, but it covers more exons.

“Our full RYR1 gene sequencing test is now ready for patient specimens,” he says. “Previously, we covered only about a third of the 106 exons in this very large gene. Now we are offering sequencing of all exons.”

MHAUS has developed an information brochure concerning molecular genetic testing for susceptibility to MH, which is available online or can be ordered through the MHAUS eShop. Visit http://medical.mhaus.org/index.cfm/fuseaction/Content.Display/PagePK/MolecularGenetics.cfm

The MHAUS MH Hotline provides medical professionals with access to physicians who specialize in MH crisis treatment 24 hours a day, 365 days a year. MH Hotline Consultants offer expertise and support to medical professionals in successfully managing an MH crisis or to answer pre, post or intraoperative anesthesia questions.

Such was the case when Dr. Dave Peters, Lake Granbury Medical Center, Texas contacted the Hotline June of this year. He called after a two-year-old male presented to the emergency room approximately two hours after discharge from an uneventful BMT via mask GA after having a high fever and seizure at home.

“Although I felt fairly confident that the child did not have MH, I was concerned enough to call for guidance in ruling it out,” he later wrote to MHAUS. “The individual I spoke with on the phone was kind and courteous, and I was referred to Dr. Jordan D. Miller from UCLA School of Medicine. Dr. Miller’s help and attitude were greatly appreciated as he walked me through the work-up and never made me feel stupid for calling.”

Dr. Peters was board certified in 1998 and this was his first interaction with MHAUS. “Although I hope it to be my last, I feel more comfortable than ever knowing that you are there if the need should ever arise.”

The MH Hotline fields hundreds of calls such as this every year. Many times the calls turn out to be non-MH events. But of those calls that turn out to be a positive-or-likely MH event, MHAUS urges medical professionals to report the event to the North American MH Registry. To download a Registry form, visit https://www.mhreg.org.

The Registry's goal is to acquire, analyze and disseminate patient-specific clinical and laboratory information of malignant hyperthermia susceptibility to scientific investigators and physicians caring for MH-susceptible patients. The Registry data is also used to conduct research into the epidemiology, diagnosis and treatment of MH. 

The abstract “Malignant Hyperthermia and Muscular Dystrophies,” presented at the Malignant Hyperthermia-Associated Diseases: Who Needs a Non-Triggering Technique symposium sponsored by MHAUS during the Society for Pediatric Anesthesiology (SPA) meeting in San Diego, California is now available on the MHAUS website.

The authors of the abstract are Amanda Brown, MD, Harshad Gurnaney, MD, and Ronald S. Litman, DO, of the Children’s Hospital of Philadelphia. You can access the abstract by visiting http://medical.mhaus.org/index.cfm/fuseaction/Content.Display/PagePK/MuscularDystrophies.cfm