Hum-Molgen/Diag (1 submessage(s) and 6 patient request)

[Min Ae Lee <mal@calvin.bwh.harvard.edu>]

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HUM-MOLGEN  DIAGnostics/Clinical Research
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This DIAG message contains  1 submessage(s) and 6 patient requests:

1) MELAS primer (IV)

2) Sjogren syndrome (pt request, III)


3) Fibrolamellar carcinoma (pt request, I))

4) De Barsy syndrome (pt request, III)

5) Trisomy 17 (pt request, III)

6) Best disease (pt request, III)

7) Congenital emphysema (pt request, III)

Carlo Gambacorti, MD, Editor,           Min Ae Lee, MD, Assistant Editor
Human Molecular Genetics Network
Diagnostics/Clinical Research Section
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1)      MELAS primer

Hello Folks,
This post is an open invitation to doctors, medical facilities, and support
organizations working with mitochondrial myopathies and related disorders.
The next volume of the "MELAS Primer 1997" is in the editing stage.  It's a
Adobe Acrobat 3.0 PDF file available at the "Downloads" page at the MELAS
Online Network's website at:

<http://www.poseidon.net/melas>

This is an opportunity to have your contact information made available
world-wide in a Internet-ready publication that is specifically oriented to
provide information in layman's terms about the MELAS Syndrome and other
related disorders.  The Primer contains a list of facilities that treat
mitochondrial disorders, and it needs to be expanded to include more US
domestic and international contacts.  We were recently made very aware of
the scarcity of facilities in some parts of Europe, and of the former
Soviet Union, and in parts of the Third World, and would especially like to
include the contact information of facilities in these parts of the world.
The Primer PDF file has printing permission for situations where an
individual may not have Internet access, but would be able to obtain a
hardcopy from some one who does.  The Primer is current available in the
English language only.

Please feel free to download the current volume, and review it to see if
you would be interested in having your contact info added to the next
volume.  It is viewable on any platform or operating system simply by
downloading the appropriate version of the Adobe Acrobat Reader 3.1 (also
available via a link at the "Downloads" page).

The information that you provide would need to include the following:

1. Facility/Organization Name
2. Website Address (if available)
3. Phone number(s)
4. Postal Address, & Actual Location Address (if different from postal
address)
5. A statement identifying yourself and your position within your
facility/organization, and stating permission to use your
facility/organization's information in the Primer.

Very sincerely yours,

Mike Jackson <melas@poseidon.net>
MELAS Online Network: <http://www.poseidon.net/melas>
Mitochondrial Support List: <MMRD-List@Avenza.com>

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2)      Sjogren syndrome
Pt request - please reply directly to Hum-Molgen !
Apparent pt location: Mexico

I'm looking for some information of sjogren syndrom in english language
Thank you

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3)      Fibrolamellar carcinome
Apparent pt location: USA
Pt request - please reply directly to Hum-Molgen !

Please send information on the treatment of fibrolamellar carcinoma.
Chemotherapy, clinical trials, or other possible treatments.
Thank you

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4)      De Barsy syndrome
Apparent pt location: California
Pt request - please reply directly to Hum-Molgen !

Hello,


I pray that you will be able to help us in finding any information re-
garding De Barsy Syndrom.  Our two grandchildren from the same daughter
has this syndrom.  One is a 11 yr old girl, the other is a 5 year old
boy.  They were both born with this disorder.  They both have symtoms
like that of a autistic child.  We are striving to understand more about
this & the prognosis.  Our daughter has gone to college to learn how to
work with disabled children.  Her dr.s know very little about this rare
disorder.  Any help finding information about this disorder would so
very much appreciated.  The children are now being seen by Drs. at the
Shrine Hospital in Sacramento.


Thank you, in advance for your help

Editor's comment: 
De Barsy syndrome is a progeroid disorder. There is an 
international progeria registry in New York. They can be reached at 
(718)494-5333. 

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5)      Trisomy 17
Apparent pt location: USA
Pt request - please reply directly to Hum-Molgen !

I am counseling a father in the U.S. whose 23 yr old son died in May
from complications of Trisomy 17, caused by "a piece of chromosome 5
attaching to 17." (quote from father)
The tragedy is that many of his wife's family have been tested to be
carriers.  Secondly, they know of no other cases, and feel so solitary.
I have been searching the web for the past couple weeks with no
reference in medical searchers.  This is indeed a rare condition, as this
father told me.  But I promised to find something to help them.

Your reference will be appreciated.

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6)      Best disease
Apparent pt location: USA
Pt request - please reply directly to Hum-Molgen !

I have a family with Best disease (Best vitelliform macular degeneration)
who is interested in the possibility of participating in a research project 
to locate and/or characterize the gene.  The family is especially 
interesting from the standpoint that one obligate carrier appears to 
be  non-penetrant.  If anyone is interested in including this family in

a study, they should contact me.>

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7)      Congenital emphysema
Apparent pt location: not evident
Pt request - please reply directly to Hum-Molgen !

Hello,

I have been searching for information on congenital emphysema and to date
have found nothing on the Internet. Your web site was referred to me by
Darryl Macer, Ph.D.,
Institute of Biological Sciences, University of Tsukuba, Japan.
Would you be able to direct me or advise where I can find information on
this condition?
Thank you very much for your assistance,

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