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  Carlo Gambacorti MD, National Cancer Institute, Milan - Italy: DIAG: 6 messages/3 Pt req.  

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Subject: DIAG: 6 messages/3 Pt req.
From: "Carlo Gambacorti MD, National Cancer Institute, Milan - Italy" <gambacorti@anprisc.anapat.istitutotumori.mi.it>
Date: Wed, 11 Mar 1998 16:50:25 +0000
Posted-Date: Wed, 11 Mar 1998 16:50:25 +0000

           HUM-MOLGEN  DIAGnostics/Clinical Research

This DIAG message contains 3 professional and 3 patient requests:

1) Human cell line and DNA repository
2) Leukocyte Adhesion Deficiency trial
3) Urbach-Wiethe syndrome OMIM 247100
4) Liver cancer (pt request)
5) FG syndrome/OMIM 305450 (pt request)
6) 8p+ (pt request)

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

1) Human cell line and DNA repository

The National Laboratory for the Genetics of Israeli Populations at  Tel-Aviv
University is a new repository for human cell lines and DNA samples,
representing the unique and large ethnic variation of the Israeli

Our collection now includes over one thousand cell lines and DNA samples. For
additional information please visit our web site:

Reply-To: "David Gurwitz" gurwitz@post.tau.ac.il

2) Leukocyte Adhesion Deficiency trial

Dear Colleagues,

We are currently seeking patients for a Phase I clinical gene therapy trial
Leukocyte Adhesion Deficiency.

Leukocyte Adhesion Deficiency patients contain mutations in the CD18 integrin
molecule which prevent neutrophil adherence.  Patients typically present at
birth with delayed umbilical cord separation, and the disease manifests itself
throughtout life with severe recurrent bacterial infections, absence of pus at
wound sites, gingivitis/periodontitis, and chronic leukocytosis.

We feel this is an exciting potential new therapy for this devasting disease.

Please feel free to contact us if you have any questions.  Thank you.

Dennis D. Hickstein, M.D. (Principal Investigator)       Associate
Thomas R. Bauer, Jr, Ph.D. (Co-PI)  Acting Instructor
Department of Medicine

University of Washington
phone: 1-206-764-2705

phone: 1-206-764-2118
fax:  1-206-764-2827

fax:  1-206-764-2827
email:  dennishi@u.washington.edu
email: tbauer@u.washington.edu

Mailing address:
VA Puget Sound HCS
1660 S. Columbian Way
GMR 151
Seattle, WA  98108

3) Urbach-Wiethe syndrome OMIM 247100

We are presently caring for a patient with sporadic Urbach-Wiethe syndrome
(Hyalinosis cutis et mucosae, Lipoid proteinosis or Lipoproteinosis) who shows
calcification of the amygdalae on CT and suffers from pharmakoresistant
epilepsy. Not only is the etiology of Urbach-Wiethe syndrome unknown but also
the chemical nature of the material that is abnormally deposited in skin,
submucosa and brain seems not clarified up to now. Since our patient is
scheduled for epilepsy surgery (selective removal of amygdala and hippocampus)
in the next few weeks this could provide an unique opportunity to characterize
the pathologically stored calcifying substances. We are therefore looking
for a
laboratory that might be interested in a such a neurochemical analysis.
Collaboration would be most welcome!

Dr. A. Danek
University Department of Neurology
POB 701260
D-81366 M=FCnchen
phone xx49/89/7095-1; -2824


4) Liver cancer (pt request)
        Apparent location: US
        Please reply directly to HumMolGen

My daughter has been treated unsuccessfully with 5 FU and interferon at MD
Anderson Cancer Center in Houston for liver cancer. We are looking for
alternative therapies and are currently talking  to Dr. Burzinski in Houston
TX, regarding his anitneoplastine therapies. We would appreciate any
information about experimental new (genetic) therapies.

5) FG syndrome (pt request)
        Apparent location: US
        Please reply directly to HumMolGen

We are parents of a 7.5 year old son who may possibly have FG (OMIM 305450)
syndrome. We are
currently working with Annemarie Sommer, MD, who  forwarded our sons medical
history and photographs to Dr. John Opitz. He in turn gave a possible
of FG. We are looking for more information about this syndrome.

Any help would be appreciated.

6) 8p+ (pt request)
        Apparent location: Australia
        Please reply directly to HumMolGen

I am special needs teacher.  In my class I have two students (7/11 years old)
who have medical conditions/learning disabilities associated with a chromosome
8p+ disorder.  I have been informed that the students are 2 of only 10
identified cases anywhere in the world with this condition.  I don't know
anything about the precise clinical details - the students are  undergoing
medical examination at present to establish more details.

I am interested to learn anything about chromosome 8p+ disorders  - potential
long term intellectual development, life expectancy, existing educational
programmes, literally anything.


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