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To: Multiple recipients of list HUM-MOLGEN <HUM-MOLGEN@NIC.SURFNET.NL>
Subject: DIAG: 5 messages/1 PT REQ.
From: Carlo Gambacorti <GAMBACORTI@ICIL64.CILEA.IT>
Date: Mon, 17 Jun 1996 09:55:49 +0000

           HUM-MOLGEN  DIAGnostics/Clinical Research

This DIAG message contains 5 submessage(s):

1)   BATTENS DISEASE/ req. for info

2)   Fibrolamellar hepatacellular carcinoma/ PT. REQ.

3)   familial neuroblastoma study

4)   Idiopathic Haemosiderosis/ req. for info

5)   Down Syndrome Management Query

  Carlo Gambacorti MD, Editor,
  Human Molecular Genetics network
  Diagnostics/Clinical Research Section


What is Battens Disease? Do you know of an experts in this area? A friend's
child has been diagnosed as such. It is treatable? Is it fatal? What is the
genetic and molecular basis for this disease. Do you know of any
literature-research or not on this subject? Please help by providing any
information on this subject.
Please send replies directly to me.

Dr. Yaw A. Nsiah,  (Microbiology)
Department of Biology, M237
Eastern Connecticut State University
83 Windham Street,
Willimantic, CT 06226.

Tel: 860-465-4524
Internet: Nsiah@ECSU.CTSTATEU.EDU.
Fax: 860-465-5213


  I am looking for info on fibrolamellar
hepatocellular cacinoma.  It is an extremely rare variant of primary liver
cancer.  I have had this disease since September 1992.  I have had
chemotherapy and two unsuccessful surgeries renamed exploratory.  If anyone
knows of trials, experiments, etc... dealing with this disease or related
area please email me.  Thank you.


Apparent patient location: Arizona


Daer Colleagues,

     from several years my group is studying sporadic neuroblastoma. Recently we are
interested in familial neuroblastoma. We observed two families: one (Famili M.) has a F1
with three children, two of them with neuroblastoma, stage 4 and stage 2 respectively, patient
with stage 4 dead; the other family (Family C.) has a F1 with two children, one had stage
4 and neurofibroma and dead with disease progression, he had also an healthy youngest
healthy sister.

     We are interested in a collaboration in the Familial Neuroblastoma Linkage Project
and in any other Cooperation for familial neuroblastoma study.

                    Gian Paolo Tonini
Name:Dr.Gian Paolo Tonini
Unit of Solid Tumor Biolgy
Laboratory of Oncology/G.Gaslini Institut
Advanced Biotecnology Center
Tower D, 1st floor
Largo R. Benzi,10
16136 Genova - Italy



I am looking for information on this disease, Idiopathic
haemosiderosis. I know of a patient who is suffering from
it. At the moment, the only thing that seems to be done,
according to my knowledge, is blood transfusions. I would
be very grateful for any help in this matter.

Thanking you

Yours Sincerely,
chsree@tifrvax.tifr.res.in (C.H.Sreekanth)


I have been reviewing the recent literature available to pediatricians
regarding the primary care managment of patients with Trisomy 21.  I have
been unable to find a recommendation for screening blood counts.  The
practice of general pediatrics does not include complete blood counts for
'normal' patients at any point, though hematocrits are checked on a
schedule by some.  The overall risk of malignant myelodysplasias in Tri 21
is quoted generally at ~1%, which is low, but significantly increased over
the general childhood population.

My question is: is the risk of leukemia or leukemoid reaction in Trisomy 21
high enough that patients should have a screening CBC on some scheduled
basis (once every few months to some age then once annually?)?  If not, are
the indications for diagnostic CBC in any way different from those in
non-Down children who are suspected to have leukemia?

Thanks for your help!

Angela Scheuerle M.D.                  "Without courage you cannot practice
ascheuer@ped1.med.uth.tmc.edu           any other virtue consistently"
                                                -Maya Angelou

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