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  Carlo Gambacorti MD, National Cancer Institute, Milan - Italy: DIAG: 7 messages  

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Subject: DIAG: 7 messages
From: "Carlo Gambacorti MD, National Cancer Institute, Milan - Italy" <gambacorti@anprisc.anapat.istitutotumori.mi.it>
Date: Thu, 22 Oct 1998 08:47:38 +0200
Posted-Date: Thu, 22 Oct 1998 08:47:38 +0200

           HUM-MOLGEN  DIAGnostics/Clinical Research

This DIAG message contains  7 professional requests:

1) Request for families with hereditary glomus tumors
2) Connective tissue disorder
3) Panniculitis in cystic fibrosis patient
4) Rubinstein-Taybi syndrome
5) Retinitis pigmentosa/diabetic retinopathy
6) Trisomy 18 mosaic
7) Anterior horn cell degeneration


Carlo Gambacorti, MD, Editor,            Harker Rhodes, MD, Assistant Editor
                       Human Molecular Genetics Network
                       Diagnostics/Clinical Research Section

1)      Request for families with hereditary glomus tumors

 We have established a potential genetic linkage for a family with autosomal
dominant glomus tumors (OMIM 138000).  These are the cutaneous neoplasms
consisting of multiple layers of glomus cells lining blood filled cavities,
be to confused with paragangliomata, which are sometimes also called glomus
tumors.   The study is approved by the Human Subjects committee of the Duke
University Medical Center.  If anyone knows of any multiple generation
that would be interested in a genetic linkage study,  please contact...

Douglas Marchuk, Ph.D.
Department of Genetics
Room 277 CARL Building
Duke University Medical Center
Durham, NC 27710

Tel  919 684-3290
FAX  919 681-9193


2)      Connective tissue disorder

I am a clinical geneticist in Canada.  I recently saw a 45 year old man who
has had several ruptures of flexor tendons, occuring over the last 15 years.
They occur primarily in his hands, usually following moderate trauma, such
as after moving a heavy bookshelf.  He has had numerous operations to repair
the tendons, and now has limitation of movement in his wrists and fingers.
He also had rupture of an ankle tendon as a result of a fall.

This gentleman has no other features of a connective tissue disorder on
physical exam or history.  His scars are well healed and his skin is normal,
no bleeding diathisis, no joint problems (except post surgery) and no eye
problems.  Heart is fine.

He will be having surgery on Oct. 22, 1998.  Does anyone have a clinical
hypothesis?   Does anyone want a tissue sample for study re: collagen

Thank you for your help.

Lea Velsher, MD, FRCPC
e-mail: lvelsher@IDIRECT.COM


3) Panniculitis in cystic fibrosis patient

I am a pediatrician involved in Cystic Fibrosis care. I was recently
reported of a patient with panniculitis (Weber-Christian disease) and
pancreatic pathology suggesting Cystic Fibrosis. Panniculitis may occur as
a complication of pancreatic disease. I wonder if any other has experience
of panniculitis occurring in CF or of panniculitis associated to pancreatic
changes suggesting CF.

Many thanks

Luca Romano, MD, PhD
CF Centre
Gaslini Institute
Largo Gaslini, 5
I-16147 Genova Italy

E-mail: lromano@mclink.it


4) Rubinstein-Taybi syndrome

Is there anyone working on molecular studies of Rubinstein-Taybi
Dr. M. Pineda
S. Neuropediatria
Hospital Sant Joan de Du
Passeig Sant joan de Deu n2
08950 Esplugues . Barcelona.



5) Retinitis pigmentosa/diabetic retinopathy 

I would like to post a query to  human geneticicists who are    
collecting  registers of patients with Retinitis pigmentosa.
 1: How many of your patients have IDDM
 2: of these how many have retinopathy?

I am  conducting research on the causation of diabetic retinopathy, and
believe that 
the anoxia in the retina caused by rod activity is an important factor 
in the development of diabetic retinopathy.  

e-mail: g.arden@ city.ac.uk
Fax +44 171 477 8355
Applied Vision Research Centre
City University 
Goswell Rd. London EC1 V 7DD


6) Trisomy 18 mosaic

We have an 18 month old male who presented with developmental delay and has
70% Trisomy 18 in his blood (skin has not been assessed). The family is
interested in more information.

N.J. Leonard
Assistant Professor/Medical Geneticist
Department of Medical Genetics
University of Alberta Hospital
853 Medical Sciences Building
Edmonton, Alberta
phone (403) 492-4077
fax (403) 492-6845
email norma.leonard@ualberta.ca


7) Anterior horn cell degeneration

I have a pedigree of an American midwestern family with adult onset
weakness in the extremities (beginning  typically in hands, progressing to
feet, legs, respiratory, etc until death ). age of onset: 27-32 yrs; age of
death: variable (can be over 60 yrs)

It has been suggested (by family physician?) that this represents an
uncharacterized anterior horn cell degeneration. Mode of inheritance is
classical autosomal dominant with full penetrance. I have DNA (periph
blood) on all but 1 proband (6/7), and on several other family members (not
the younger, presymptomatic generation, although I believe they are willing
to cooperate in a study). Currently, there are 3 generations living,
however, the remaining proband in the grandparental generation is not
expected to live much longer. I am trying to arrange an autopsy, and will
bank as much nerve, brain and muscle as possible. Is anyone looking at
pedigrees like this? Particularly, is anyone doing a linkage/positional
cloning project?

susan c burghes ms
neurogenetics laboratory
dept. medical biochemistry
ohio state univ
363 hamilton hall
333 neil ave
columbus, oh 43210 usa
t: 614-293-4163
f: 614-292-4118
e: burghes.2@osu.edu


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