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To: HUM-MOLGEN@NIC.SURFNET.NL
Subject: DIAG (11 Messages)
From: Robert Resta <bc928@scn.org>
Date: Thu, 26 Feb 1998 07:28:41 -0800

The following 11 messages have been submitted to the DIAG
section of HUM-MOLGEN. Replies should be made directly to the
requesting person, not to HUM-MOLGEN.

If you have recently submitted a DIAG message that has not been included
in this or a previous posting, please contact HUM-MOLGEN.

Robert G. Resta                  Carlo Gambacorti-Passerini
DIAG Editor                      DIAG Editor
HUM-MOLGEN                       HUM-MOLGEN
****************************************************************
Summary of Messages:

1) TUBEROUS SCLEROSIS COLLABORATION
2) HEPATIC DISEASE, OSTEOPOROSIS, MULTIPLE FRACTURES
3) SPASTIC PARAPARESIS/?ADRENOMYELONEURPATHY
4) SPONDILOTHORACIC DYSOSTOSIS/JARCHO-LEVIN
5) NEED ADVICE REGARDING BETAINE THERAPY
6) DIAGNOSIS OF FAMILIAL RECTAL PAIN
7) SEEKING FAMILIES WITH NEUROLOGICAL DISEASE
8) FGFR2 SYNDROME?
9) CHERUBISM
10) CLINICAL STUDY: ATAXIA-TELANGIECTASIA
11) MULTIPLE BASAL CELL CARCINOMAS


*****************************************************************

1) TUBEROUS SCLEROSIS COLLABORATION

Reply-To: "Dr R.M.Rawi" <rowani@tm.net.my>

We are interested in genetic studies of tuberous sclerosis in our
population (Asia: malaysia) but do not enough fund for research
despite having large number of patient.
Collaboration is welcome.

Dr R.M.Rawi
-----------------------------------------------------------------
2) HEPATIC DISEASE, OSTEOPOROSIS, MULTIPLE FRACTURES
Reply to: Bernd-C.Schwahn@UNI-KOELN.DE

Dear collegues,
We are treating a family with three male members (brothers in
school age), who share the same clinical picture: mild
hepatopathy (elevated transaminases, histology of very mild
unspecific "hepatitis"), marked osteoporosis with multiple
fractures (all biochemical parameters of bone and collagen
metabolism are normal). All the diagnostic work-up has been done
without any evidence for a metabolic, infectious or toxic
etiology. We think about a genetic background but we are not able
to recognize any suitable known disease. Therefore, we should
like to ask this forum, whether anyone has an idea of a possible
disease or a suggestion for further diagnostic procedures.

Thank you for your help!

Bernd Schwahn, MD
University Children's Hospital
Moorenstra
D-40225 Duesseldorf
Fax ++49-211-8118757
e-mail  Bernd-C.Schwahn@uni-koeln.de

-----------------------------------------------------------------

3) SPASTIC PARAPARESIS/?ADRENOMYELONEURPATHY
Reply-To: dr Andras Lengyel <bandino@hotmail.com>


Dear Editors:

My name is Andras Lengyel, I'm a hungarian neurologist.
I have a young male patient, who suffers in slowly progressive
spastic paraparesis and incontinentia urinae.Other neurological
signs absents.

He had these tests:
Cranial CT: negative
Cranial MRI: negative
Spinal cord MRI: negative
Liquor: negative /oligoclonal gamma band to/
SPECT: minimal biparietal changes
Electroneurography: sensorial degeneration in inferior limbs

I think probably he has adrenomyeloneuropathy. But in Hungary the
necessary biochemical tests are not available.

Could You please help me?

Your faithfully
dr Andras Lengyel

e-mail:bandino@hotmail.com

My institution:
Diosgyori Neurologia
3520 Miskolc
Korhaz u. 1
Hungary

-----------------------------------------------------------------
4) SPONDILOTHORACIC DYSOSTOSIS/JARCHO-LEVIN
Reply-To: "Jose Carlos P. Ferreira" <zec@inx.net>

I saw a patient with the diagnosis of Jarcho-Levin S., and with
some other visceral anomalies not commonly associated with this
syndrome.

There has been some hypothesis of linking this syndrome with Pax9
or Pax1 genes. I would like to know if there is anyone doing any
research on this hypothesis that would like to study a DNA sample
of this patient.

Thank you very much

Jose Carlos Ferreira, MD
Genetics Fellow
Albert Einstein College of Medicine
Montefiore Medical Center

-----------------------------------------------------------------

5) NEED ADVICE REGARDING BETAINE THERAPY
From: Richard Erbe, MD (Folate@AOL.COM)

Dear Colleague

A 20-year-old patient of ours with 5,10-methylenetetrahydrofolate
reductase deficiency is having a very difficult time trying to
eat the 6 grams of betaine each day needing to keep her plasma
L-homocysteine concentration low.

She has tried mixing it with a variety of solids and liquids, but
now gags immediately when she tries to swallow it.

We would be grateful for any suggestions.

Richard W. Erbe, M.D., Chief, Division of Genetics, Children's
Hospital of Buffalo, and Professor of Pediatrics and Medicine,
School of Medicine and Biomedical Sciences, State University of
New York at Buffalo

-----------------------------------------------------------------

6) DIAGNOSIS OF FAMILIAL RECTAL PAIN
From: Caroline R Fertleman <c.fertleman@UCL.AC.UK>

We have recently started doing linkage study on familial rectal
pain in our department.

Hayden & Grossman (1959) first described a syndrome which
included episodic severe pain of the submandibular, ocular and
rectal areas with flushing of the surrounding skin.  Autosomal
dominant inheritance was apparent, and a  number of families have
subsequently been reported. The clinical features suggest that
the cellular phenotype involves both autonomic and nociceptor
neurones but the molecular basis of the disorder is entirely
unknown. Intestinal 'neuronal dysplasia' has been reported on
rectal biopsy in one family.

If you have any patients in your care who might be willing to
participate in our study please contact us.

Thank you
Caroline Fertleman
Department of Paediatrics
UCL Medical School
The Rayne Institute
5 University Street
London WC1E 6JJ
Tel     0171 209 6663
Fax     0171 209 6103

-----------------------------------------------------------------

7) SEEKING FAMILIES WITH NEUROLOGICAL DISEASE
From: Andrew Escayg <aescayg@UMICH.EDU>

Dear Colleagues,

Our lab has developed reagents for mutation detection in two ion
channel genes which are good candidates for inherited
neurological disorders such as ataxia, absence epilepsy and
dystonia, based on studies of mutant mice.
We are interested in obtaining samples from suitable human
families for the purpose of mutation detection in these genes.  I
would be grateful if individuals who have access to such
families, or know where they may be obtained could contact me.
We will also be willing to provide closely linked microsatellite
markers to facilitate linkage analysis in suitable families.

Yours sincerely
Andrew Escayg, PhD
Department of Human Genetics
University of Michigan
4708 Medical Science II
Ann Arbor
Michigan, 48109-0618

tel: (734) 763-1053
fax: (734) 763-9691
email: aescayg@umich.edu

-----------------------------------------------------------------

8) FGFR2 SYNDROME?
From: Angela Scheuerle, M.D. <ascheuer@PED1.MED.UTH.TMC.EDU>


Hi, I've just seen a 10 day old male with general features of an
FGFR2 syndrome turrincephaly with proptosis and flattened
midface, peaked palate, lowset ears, high webbing of hand digits
2/3 and complete cutaneous syndactyly of toes 2/3.  He also has
bilateral inguinal hernias.  The features that do not fit this
are a wide, notched nasal tip, hypertelorism, and bilaterally
cleft upper eyelids.

He does not look like oculo-auriculo-vertebral/Goldenhar or
Treacher Collins.  (Globes are normal)  He could have
fronto-nasal dysplasia, but that wouldn't account for the
syndactyly or turrincephaly. Easily his most striking features
are the upper eyelids.

POSSUM has no reference.  Easily available texts (Synd of Head
and Neck, Smith's BDE have not given me any clues.

While my search is on-going, I'd appreciate any suggestions.


Angela E. Scheuerle, M.D.
Assistant Professor
Medical Genetics
Department of Pediatrics
University of Texas - Houston
ascheuer@ped1.med.uth.tmc.edu

-----------------------------------------------------------------
9) CHERUBISM
From: Hartmut Peters <H.Peters@GENETIK.CHARITE.HU-BERLIN.DE>

Dear Colleagues,

We have recently diagnosed a three generation family, with
cherubism in every generation. We would like to know is anyone
interested on molecular investigation of this disease?

Please reply to

Dr.Hartmut Peters
Institute of Medical Genetics
Charit=E9, 10098 Berlin, Germany
Fax.0049-30-28021286
h.peters@genetik.charite.hu-berlin.de

-----------------------------------------------------------------

10) CLINICAL STUDY: ATAXIA-TELANGIECTASIA
Reply-To: Pam Bower <pbower@inforamp.net>


STUDY: Effect of myo-Inositol on Cerebellar and Immune
Function in Patients with Ataxia-Telangiectasia

STUDY LOCATION: The Children's Hospital of Philadelphia (CHOP)
34th Street & Civic Center Boulevard, Philadelphia, Pennsylvania
USA  19104-4399

PRINCIPLE INVESTIGATOR: Gerard Berry, M.D.
(Metabolism/Biochemical Genetics)

CO-INVESTIGATORS: Peter Bingham, M.D. (Neurology)
Kathleen Sullivan, M.D., Ph.D. (Immunology)

FOCUS OF STUDY: Investigation of pharmacological doses of a
nutrient, identified as deficient in patients with A-T, with
critical roles in cell signalling and cellular metabolism.  Pre
and post-assessment of immune, neurological and activities of
daily living functioning.

STUDY DESIGN: Double blind placebo-controlled
randomized-crossover study.

FUNDING SOURCE: NIH Clinical Research Center Funds

WHAT IS REQUIRED: Four(4) trips to Philadelphia:
1) 5 days at CHOP for "pre" measurements & establishment of
therapeutic dose of the intervention per your child's weight and
metabolism.

1) Return home with liquid intervention.

3) Take either placebo or nutrient for 1 month (both pleasant
tasting).

4) 2 days at CHOP 1 month later for "post"
measurements.

5) At least 1 week in-between, then repeat steps 1-4.

COST: No cost for study and assessments.
Minimal out-of-pocket for meals, recreation.
Lodging at Ronald McDonald House.
Assistance with airfares provided by The A-T
Project (Austin) with support from The A-T Medical
Research Foundation (Los Angeles).

BENEFITS OF STUDY: To participants & families:
- Complete immune & neurological work-ups including
  brain MRI.
- Determination of your child's A-T genotype
- Upon study completion, details of your child's neurological and

 immune response to the intervention.

To all affected by A-T:
- Contributing to treatment options for A-T.
- Correlation of phenotype(symptoms & seriousness) with genotype.
- Determination of levels of critical cell signalling
  phospholipids in specific cell membranes(never before
  measured).

CONTACT:Gerard Berry, M.D.  215-590-3372
Michelle Bergman, R.N. 215-590-1399 - Clinical Research Center
Coordinator (Ms. Bergman can provide referrals to other families
who have participated).
-----------------------------------------------------------------

11) MULTIPLE BASAL CELL CARCINOMAS
From: gambacorti@istitutotumori.mi.it


I have seen a 28 y old female patient presenting with 25-30 basal
cell carcinomas on sun-exposed parts of the trunk. The rest of
clinical examination as well as XR of the skull and jaw are
unremarkable, especially for signs of Gorlin syndrome. PTCH
mutations analysis is in progress.

Did anybody see a similar patient with multiple BCC, young age,
but no other signs of Gorlin S  ?

I would appreciate comments and suggestions. Thanks.

Carlo Gambacorti-Passerini MD
Senior Investigator
Istituto Nazionale Tumori - OSD
Via Venezian 1
20133 Milano - Italy

Tel +39.2.239-0818
Fax +39.2.239-0764
E-mail GAMBACORTI@ISTITUTOTUMORI.MI.IT


   
 
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