DIAG: 3 messages

[Agnes Tay <mcbtayhn@leonis.nus.sg>]

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           HUM-MOLGEN  DIAGnostics/Clinical Research
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This DIAG message contains  3 submessage(s),  1 patient request:

1. Cadasil Disease--PT request

2. Abetalipoproteinemia

3. Post operative therapy for Progeria patient--Urgent


Carlo Gambacorti MD, Editor,            Agnes Tay, MD PhD, Asst Editor
Human Molecular Genetics Network
Diagnostics/Clinical Research Section

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1. Cadasil Disease--PT request
Apparent patient location: Canada
PLEASE REPLY DIRECTLY TO HUM-MOLGEN

My family and I need information on Cadasil disease. Have already looked at
the info available at OMIM. Thank you.
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2. Abetalipoproteinemia

I am trying to obtain Vitamin E for intramuscular injection for a
patient with abetalipoproteinemia.  Can anyone give me a source for this?
Our pharmacy and purchasing departments can't locate a source in the USA.

Also, is anyone aware of any trials of gene therapy for
abetalipoproteinemia?

Chris Friedrich, M.D., Ph.D.
Assistant Professor of Medicine, Division of Medical Genetics
University of Pennsylvania School of Medicine

(215) 662-4740
email: cfriedri@MAIL.MED.UPENN.EDU
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3. Post operative therapy for Progeria patient
She is 14-years old female and has Hutchinson-Gilford Progeria syndrome.
She had epi-dural hemorrhage by accident. Surgical remove of hematoma has
done on emergency unit. But her wound has getting necrosis.
Now, we use Growth hormone in ointment on her local wound, and vitamin E.
But necrosis area is getting to spread.
If you have any idea for improving her condition, please contact me.
Thanks.

Yoshio Makita, MD, PhD.
Department of Pediatrics,
Asahikawa Medical College, Japan
email: makita5p@asahikawa-med.ac.jp
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