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To: HUM-MOLGEN@NIC.SURFNET.NL
Subject: DIAG: 5 messages, 2 pt requests
From: Agnes Tay <mcbtayhn@leonis.nus.sg>
Date: Fri, 16 May 1997 15:19:29 +1410

**************************************************************
           HUM-MOLGEN  DIAGnostics/Clinical Research
**************************************************************


This DIAG message contains  5 submessage(s),  2 patient requests:

1. Osteopetrosis and Paget's disease of bone--IV

2. Kartagener syndrome--III

3. Beals Syndrome--IV

4. Ocular Complications in Marfan--IV

5. Adrenomyeloneuropathy--III


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

=========================
1. Osteopetrosis and Paget's disease of bone
In our Department of Medical Genetics we are trying to localize and
identify genes involved in different types of osteopetrosis and in Paget's
disease of bone.  Therefore we are looking for families with more than
one affected individual for one of both conditions.  In case you are in
contact with such a family and are willing to add this to our study on a
collaborative basis, please contact us:
Wim Van Hul
vhul@uia.ua.ac.be
Department of Medical Genetics
University of Antwerp
Universiteitsplein 1
2610 Antwerp
Belgium
Tel: 32 3 820 25 85
FAX: 32 3 820 25 66
===============================================
2. Kartagener syndrome--pt request
PLEASE REPLY DIRECTLY TO HUM-MOLGEN
Have this disease and also have 2 other sisters with this same disease.
We are on a lung transplant list in Chapel Hill, NC. If there is anyone who
may have this disease please let us know. Thank you.


===============================================
3. Beals Syndrome
I have seen for genetic counselling a family with Beals Syndrome,
congenital contractural arachnodactyly.
We have stored DNA from the propositus,his parents, 4 sibs of the mother,
and the maternal grandmother. In addition to the propositus,his mother and
a maternal aunt showed the same symptoms.
I am interested in collaboration to study this family  at the molecular level.
Sincerely
Cesare Danesino
 Prof. Cesare Danesino, MD
Dip. Patologia Umana ed Ereditaria, Universit di Pavia
Via Forlanini 14, 27100 Pavia, Italy
Phone (+39) 382 507 519       Fax (+39) 382 525 030
                E-mail cidi@ipv36.unipv.it
=======================================

4. Ocular Complications in Marfan
I am writing on behalf of a friend of mine who has a 5 year old boy with
Marfan syndrome and significant ocular complications.
The parents would like to know the opinion of ophthalmologists and/or other
specialists as to the further surgical management of the boy.
A brief medical story follows: in July 1995 the boy underwent scleral
buckling, anterior left vitrectomy, peripheral criopexy, ICCE. No
complications
occurred. Now he's using a soft contact lens +12. The patient has his right
lens partially dislocated.
Right eye: 1/10 natural. Left eye: 1/20 with contact lens.
The parents would like to ask ophthalmologists who have already seen or
treated such patients, and specifically
they wonder whether or not to operate the right eye, and what consequences
might be expected. In fact, as far as I can tell, they were told different
opinion by different specialists. The boy is currently being taken care of
at the Institute of Opththalmology of the University of Verona School of
Medicine,
Verona, Italy. The family lives in Verona, Italy.
Thank you very much.

Alberto E.Turco, M.D.
Institute of Genetics
The University of Verona School of Medicine
University Hospital Polyclinic "B.Roma"
37134 Verona - Italy
Tel +39-45-8098 189
Fax +39-45-8098 180
email: aturco@borgoroma.univr.it
========================================
5. Adrenomyeloneuropathy--Patient Request
PLEASE REPLY DIRECTLY TO HUM-MOLGEN
Apparent Patient Location: US
Am patient who suffers disease, am looking to gather as much info past
and present as possible on research that has been done and what is
currently being studied.


   
 
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