HUM-MOLGEN/DIAG: 5 submessage(s) and 4 patient requests

[Min Ae Lee <mal@calvin.bwh.harvard.edu>]

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HUM-MOLGEN  DIAGnostics/Clinical Research
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This DIAG message contains  5 submessage(s) and 4 patient requests:

1) Noonan syndrome (II, IV)

2) Polymorphisms of olfactory receptors (IV)

3) Schimke immunoosseous dysplasia (IV)

4) Dust-related mucormycosis (IV)

5) Alstrvm disease (IV)

6) Genetic aspects of suicide (pt request, III)

7) Lymphangiomatosis pulmonum (pt request, III)

8) Adrenomyeloneuropathy (pt request, III)

9) Kartagener syndrome (pt request, III)


Carlo Gambacorti, MD, Editor,   Min Ae Lee, MD, Assistant Editor
Human Molecular Genetics Network
Diagnostics/Clinical Research Section
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1)      Noonan syndrome

Dear editors,
re: Association between Noonan syndrome and multiple cutaneous
granular cell myoblastoma (Abrikosoff tumor).
Some time ago, a boy with Noonan syndrome was referred to us.
Recently, at age of six years, he develops multiple skin tumors. On
histophathologic examination, all of them were diagnosed as 
cutaneous granular cell myoblastomas (Abrikosoff tumors).
Lymphocyte chromosomes are normal.
As the tumors were small, it was not possible to obtain viable or fresh
frozen tumor material.
Does anyone know about an association of Noonan syndrome and 
multiple Abrikosoff tumors?

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Dr. Dietmar Lohmann                DR.Lohmann@uni-essen.de
Institut fuer Humangenetik
Hufelandstr. 55,                         Tel (49)201-723 4562
D-45122 Essen, Germany            FAX (49)201-723 5900
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2)      Polymorphisms of olfactory receptors

Hello
I am working in polymorphism of Olfactory Receptors. I would like to know
whether there is a good update review in human polymorphism.
Thank you in advance
Francis Kalush

Francis Kalush, PhD.
Department of Membrane Research and Biophysics
The Weizmann Institute of Science. Rehovot. Israel
E.Mail: LIKALUSH@WEIZMANN.WEIZMANN.AC.IL
Tel: 972-8-9343687, FAX:972-8-9344112.

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3)      Schimke immunoosseous dysplasia 

Schimke immunoosseous dysplasia (SID) is an autosomal recessive spondylo
epiphyseal dysplasia which is characterized by (1) disproportionate short stature, 
(2) progressive steroid resistant nephrotic syndrome, (3) cellular immunodeficiency,
(4) vascular disease (arteriosclerosis, cerebral ischemic events), and (5) hyperpig-
mented macules.  The onset of growth failure is usually within the first 5 years of life.
Renal dysfunction is usually noted within a year of the onset of growth failure.  The
severity of the immunodeficiency and vascular disease are quite variable.  
We are studying SID with the objectives of (1) further defining the clinical course
and phenotype of SID, (2) identifying the genetic basis of SID, (3) delineating the
pathophysiology of SID, and (4) identifying effective therapies.
In order to pursue these objectives, we are searching for more SID families and
are happy to collaborate with other groups who are aware of SID families.

Please contact:
Cornelius Boerkoel
Division of Clinical Genetics
Hospital for Sick Children
555 University Ave.
Toronto, Ontario  M5G 1X8  Canada
Ph. 416-813-5338
FAX 416-813-5345
email:  boerkoel@sickkids.on.ca

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4)      Dust-related mucormycosis 

Dear Sirs,
This request is rather urgent.
I'm looking for documented cases of mucormycosis produced
by dust due to constructions in hospitals.
Thank you in advance,

John Sourdis
Genetics Dept
Agr Univ of Athens
75 Iera Odos
Athens 11855, Greece
phone  +30  1 5294 376 ,   +30 94  541 839

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5)      Alstrvm Syndrome

Alstrvm Syndrome is a rare autosomal recessive disorder characterized 
by pigmentary retinal degeneration begining in infancy, sensorineural 
hearing loss, childhood obesity, non-insulin dependent diabetes mellitus,
hyperlipidemia, and chronic nephropathy.  Features occasionally 
observed include acanthosis nigricans, hypogonadism, hypothyroidism, 
alopecia, shortstature, hepatic dysfunction, and dilated  cardiomyopathy.
Researchers at The Jackson Laboratory are investigating Alstrvm 
Syndrome. We have localized the gene to a small region on chromosome
2p.  We are very interested in identifying more families with children
(living or deceased) diagnosed with Alstrvm Syndrome in order to 
continue our efforts to identify the gene.

Interested individuals should contact
Jan D. Marshall
Genetics Coordinator
Alstrvm Syndrome Family Study
The Jackson Laboratory
600 Main Street
Bar Harbor, Maine  USA  04609
phone: 1-800-371-3628
Fax: [207] 288-6078
e-mail: jdm@aretha.jax.org

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6)      Genetic aspects of suicide
Apparent location: Germany
Pt request - please reply directly to Hum-Molgen !


I would like info about suicide and families. I am doing a particular study
on a family with 5 siblings, and 3 have taken there lives. Anything you have
would be very helpful. I am searching for answers about genetics links.
Thank You,

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7)      Lymphangiomathosis pulmonum
Apparent location: Yugoslavia
Pt request - please reply directly to Hum-Molgen !

Dear friends,
I have a friend (female, 45 years old) suffering from rare condition called
Lymphangiomathosis pulmonum. Her diagnosis was set up 5 years ago in Paris,
France. She lives in Yugoslavia, so we are not sure if she is getting a
proper medical care or at least medical advice here. On the Internet there
is no single mention of this disorder, so I thought that this is the only
place where she could find some information on this disease. Also, she was
told that the only way for treating this condition would be the lung
transplantation operation. Does anyone knows were this kind of operation
could be done?
Any information or suggestion will be greatly appreciated.
Thank you,

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8)      Adrenomyeloneuropathy
Apparent location: Belgium
Pt request - please reply directly to Hum-Molgen !

Can i get information about my desease or is this site just
for doctoers a'm a Belgian patient and want also to know who can help me in
Belgium or in Europe. Thanks for answering me

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9)      Kartagener syndrome
Apparent location: USA
Pt request - please reply directly to Hum-Molgen !

Hello,
My son his 8 yrs old and has Kartagener Syndrome, I would like to know
if you have any information that would help me to understand this
syndrome more. I have read about some people having to have lung
transplants, I dont want that to happen to my son. If you can help ,
Please email me back.
Thank You,

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HUM-MOLGEN - Internet Communication Forum in Human Genetics
E-mail: HUM-MOLGEN@nic.surfnet.nl
WWW: http://www.informatik.uni-rostock.de/HUM-MOLGEN/
Phone: 020-566 4598 (The Netherlands), (206) 386-2101 (USA)
Fax:   020-691 6521 (The Netherlands), (206) 386-2555 (USA)
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Min Ae Lee, M.D.
Cardiovascular Division
Department of Medicine
Brigham and Women's Hospital
Thorn 1103
75 Francis Street
Boston, MA 02115
tel: 617-732 8174
fax: 617-264 6830
email: mal@calvin.bwh.harvard.edu