Guidebook Home

Table of Contents

Preface

Introductory Comments

General Questions About FOP

Genetics of FOP

How FOP Affects the Body

Care and Treatment

Activities

Feelings About FOP

Helpful Addresses

Family Resources

Ideas for Independence

Medical Articles

Acknowledgments and Contributions

Obtaining Tissue Specimens During Emergencies

John Cali, Frederick S. Kaplan, M.D., Eileen Shore, Ph.D.,
and Michael Zasloff, M.D., Ph.D

Tissue specimens have already made an enormous difference in our understanding of the molecular and cellular basis for FOP. However, limitations are placed on research due to the added risk of trauma in patients with FOP. Tissue samples obtained during emergency procedures or operations would allow scientists to examine living cells from deep tissue that may otherwise not be possible due to the fact that surgical trauma induces new bone formation. If a person with FOP must undergo a surgical procedure on an emergency basis, then tissue can be obtained without any extra risk to the patient. Cuts requiring stitches, or an accident involving deep tissue damage from cuts would present such an opportunity. The cells from this tissue can be kept alive in the appropriate culture medium, and thus the cells can be available for longterm study. The availablity of samples in the future will also allow us to study cells from more patients, and thus allow us to learn much more about the mysteries of FOP without any additional risk of bone formation.

On the following page are guidelines on how to collect tissue samples, how to preserve them, how to notify Dr. Fred Kaplan or Dr. Eileen Shore, and how to get them to the FOP laboratory in Philadelphia quickly.

1. If any emergency surgery procedure is needed, please have your doctor call any one of the following people for instructions on obtaining tissue samples:

Frederick Kaplan, M.D.
215-349-8727 (office)

David Glaser, M.D.
215-312-8953 (pager)

Eileen Shore, Ph.D.
215-898-2331 (office)
215-898-5610 (lab)

or Any FOP Fellow
(Orthopaedics office)
215-898-8653 (lab)
215-898-8654 (lab)

2. If there is not time to make a phone call but tissue specimens are available, they should be minced into small pieces, no bigger than a finger nail clipping, placed directly in a labelled sterile tube with sterile saline solution.

3. The tube should be well sealed so it doesn't leak and wrapped or packaged so it won't break during shipment, and sent at room temperature by Federal Express to:

Drs. Kaplan and Shore University of Pennsylvania Department of Orthopaedics 424 Stemmler Hall 36th and Hamilton Walk Philadelphia, PA 19104-6081

Also include the following information with the tissue sample: a) Name of patient b) Date obtained c) Time obtained d) Site of body where tissue was taken e) Type of tissue (skin, muscle, etc.) f) Name of doctor g) Telephone number of doctor

4. Please call one of the listed phone numbers to notify us that the tissue is being sent. (Answering machines are connected to Eileen Shore's office and to the Orthopaedics Office.)

Directions for Procuring Tissues:

1.For cells to be grown in culture

• tissue should be minced into small pieces (2-4 mm)
• place tissue in tissue culture media or sterile saline in sterile tube or vial
• ship FedEx overnight at room temperature

2. Fixed tissue for in situ hybridization

• tissue should be minced into small pieces (2-4 mm)
• fix in 4% paraformaldehyde or glutaraldehyde
• ship FedEx at room temperature

3. Frozen tissue for immunohistochemistry

• tissue should be minced into small pieces (2-4 mm)
• place tissue in a freezing vial
• quick freeze tissue
• ship FedEx overnight with dry ice

4. Blood

• draw blood into green-top tubes (heparinized)
• if possible, obtain 15-20 ml (two tubes) from adults and older children; 3-5 ml from infants and 5-15 ml from other children is sufficient
• package tubes to prevent breakage
• keep blood at room temperature at all times; do not refrigerate
• ship FedEx overnight at room temperature