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To: HUM-MOLGEN@NIC.SURFNET.NL
Subject: DIAG - 6 Messages
From: Robert Resta <bc928@scn.org>
Date: Wed, 1 Jul 1998 07:51:00 -0700

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


This DIAG message contains  4 professional requests and 2 patient requests:

1)      Kartagener Syndrome
2)      Neurofibromatosis (Type 2) - patient request
3)      Rogers Syndrome
4)      Molybdenum Cofactor Deficiency
5)      Renal-hepatic-pancreatic dysplasia and laterality defects (MIM 263200)
6)      Neuroacanthocytosis - patient request.


REPLIES TO PROFESSIONAL REQUESTS SHOULD BE SENT TO THE PERSON MAKING THE
REQUEST AND NOT TO HUM-MOLGEN.


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

1) Kartagener Syndrome

I am general practitioner and I have a 10 yr old patient who has Kartagener
Syndrome. I would like to make contact with medical research personel studying
new drugs for improvement function of immotile respiratory cilia or researching
function of bronchial gland. I wish to help with my clinical experience in this
case of Kartagener Syndroma.  Language for contact may be also German.

Thank You

Dr.Nada Majic
Topolnica 15 HR-10 000
Zagreb Croatia

e-mail: timajic@public.srce.hr

**********
2)      Neurofibromatosis  type 2

PATIENT REQUEST. PLEASE REPLY TO HUM-MOLGEN
Apparent patient location: New Jersey, USA

I am looking for any clinical trials for therapies, either as cures or "bridge
therapies" for NF2 or benign tumors.  My son has: bilateral vestibular
schwannomas--one removed and now deaf in that ear optic sheath
meningioma-removed, blind in that eye, tumor regrowing ependymoma in medulla
pineal cyst causing mass effect left frontal lobe tumor cervical spine tumors-4
to date haven't scanned other portions of spine yet  We tried hydroxyurea,
based upon Rudolf Fahlsbach research, but his counts dropped terribly and he
was already almost blind in that eye  Interferon--on too short time, before we
tried hydroxyurea  concerned about peripheral neuropathy with thalidimide  what
else is out there--not even specific to NF2?

Thank you

**********

3)      Rogers Syndrome

We have recently mapped a gene for a very rare autosomal recessive disorder
the Rogers Syndrome also known as Thiamine-Responsive megaloblastic
anemia. Clinical symptoms are diabetes mellitus, deafness and
megaloblastic anemia, responding to various degrees to thiamine treatment.
Our best mapping interval is now within a 4cM region on 1q23. We are trying
to gather as many as possible affected families to reduce the linkage
interval.Is anyone interested to collaborate with us and send DNAs from
affected families. It would be of great help. This project has IRB approval.

Many Thanks

Nadine Cohen, Ph.D.
Department of Genetics
Technion-Israel Institute of Technology-Bruce Rappaport Faculty of Medicine
POB 9649, Haifa 31096
Israel
Tel: 972.4.8295228
Fax: 972.4.8295225
E-mail: nadine@tx.technion.ac.il

**********

4)      Molybdenum Cofactor Deficiency

We have mapped recently a  gene for the Molybdenum Cofactor Deficiency
syndrome. We are interested in receiving affected families (DNAs or cell
lines) to reduce our linkage interval and also to search for a second
locus. Is anyone interested in collaboration. This project has IRB approval.

Many thanks

Nadine Cohen, Ph.D.
Department of Genetics
Technion-Israel Institute of Technology-Bruce Rappaport Faculty of Medicine
POB 9649, Haifa 31096
Israel
Tel: 972.4.8295228
Fax: 972.4.8295225
E-mail: nadine@tx.technion.ac.il

**********

5)  Renal-hepatic-pancreatic dysplasia and laterality defects (MIM 263200)

I have a 2 year old patient with renal-hepatic-pancreatic dysplasia and
laterality defects (MIM 263200).

She is developmentally normal, and has good renal function, and her liver
function is good after a procedure to bypass extra-hepatic biliary atresia.

This human condition is thought to be the equivalent of the mouse inv mutant.
However, all the reports I can find are about the neonatal stage of the
disease. Does anyone has any information on the longer term outcome on children
with this condition?

The parents are also keen to talk to (or e-mail) any other parents of a child
with the same condition.

Can anyone help ?

Andrew Green
Prof. of Medical Genetics
National centre for Medical Genetics
Our Lady's Hospital
Crumlin Dublin 12
Ireland

**********

6)      Neuroacanthocytosis
PATIENT REQUEST. PLEASE REPLY TO HUM-MOLGEN
Apparent patient location: USA

I am a close friend of a 79 year old individual who was diagnosed with
neuroacanthocytosis about 7 years ago. He has recently been rediagnosed with it
at Emery in Atlanta, Georgia, (USA). I'm looking for any kind of help or
alternative sources that might be helpful in making him feel more comfortable
if it's impossible to cure. Please help !!! Thank you.


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