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  Carlo Gambacorti: DIAG: 4 MESSAGES/3 PT REQ.  

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To: Multiple recipients of list HUM-MOLGEN <HUM-MOLGEN@NIC.SURFNET.NL>
From: Carlo Gambacorti <GAMBACORTI@ICIL64.CILEA.IT>
Date: Thu, 9 Jan 1997 18:40:28 +0000
Date-warning: Date header was inserted by ICIL64.CILEA.IT

           HUM-MOLGEN  DIAGnostics/Clinical Research
The following messages have been submitted to the DIAG Section of
HUM-MOLGEN. Replies to Patient Requests should be sent directly to
HUM-MOLGEN. All other replies can be sent to the originators of the
messages. These messages are also posted at our Website

This DIAG message contains  4 submessages:

1) Foix-Chavany-Marie syndrome (FCMS)

2) Machado-Joseph Disease/PT Request

3) Chromosome 3p deletion/PT Request

4) Small cell ca lung and scleroderma/PT Request

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


1. Subject: Foix-Chavany-Marie syndrome (FCMS)
Reply to: savarirayr@wch.sa.gov.au (Dr Ravi Savarirayan)

Dear All,
Does anyone have information pertaining to this syndrome, seen recently by
a colleague? References or groups with an interest/information concerning
the disorder would be great.
The clinical terminology is: Foix-Chavany-Marie syndrome (FCMS) =
faciopharyngoglossomasticatory diplegia (at a  neuropathology meeting this
was called " bilateral opercular polymicrogyria").
Many thanks and seasons greetings.

Ravi Savarirayan M.D.
Fellow in Clinical Genetics
South Australian Clinical Genetics Service
e-mail savarirayr@wch.sa.gov.au


2. Subject: Machado-Joseph Disease/PT Request

Apparent Patient Location: United States

I'm trying to find out about research on Machado-Joseph Disease. My family
has been affected and I'm in the process of forming a non-profit
corporation in California to fund MJD research.
Please send information about your project and or how I might help you.
Thank you.


3. Subject: chromosome 3p deletion/PT Request

Apparent Patient Location: United States

I am seeking anyone who has, had, or known a child with a
deleted #3p Chromosome or anyone who is doing research
into this particular chromosome.


4. Subject: Radiotherapy for Small Cell Ca in Patient with Scleroderma?

Apparent Patient Location: Canada

Patient affected by Raynaud Disease and Scleroderma and has Interstitial
Lung Disease on right lung.  In October of 1996, discovered that she had
Small Cell Lung Cancer. The cancer is concentrated in the right lung. Brain
scan, bone scan, and ultrasound of lower organs were all negative.

 Chemotherapy  with CAV (cyclophosphamide, adramycin, and oncovin) has been
given, planned to alternate with next therapy which will be on Jan.13,1997
-- EP for 3 days (VP16-cisplatinum). On this date she was supposed to start
radiation therapy for 3 weeks.

However, the radiation oncologist felt that it would have been too much for
her due to the existing damage caused by the scleroderma, and that the side
effects would have been too strong.

Does anyone have any info, experience, and/or documentation of side effects
from someone with the same conditions (ie- any patients who have
scleroderma and small cell lung cancer who have received both chemo and




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