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To: Multiple recipients of list HUM-MOLGEN <HUM-MOLGEN@NIC.SURFNET.NL>
Subject: DIAG: 5 messages/2 PT req.
From: Carlo Gambacorti <GAMBACORTI@ICIL64.CILEA.IT>
Date: Mon, 4 Nov 1996 11:14:25 +0000
Date-warning: Date header was inserted by ICIL64.CILEA.IT

           HUM-MOLGEN  DIAGnostics/Clinical Research

This DIAG message contains 5 submessage(s):

1)      Wolf-Hirschhorn Syndrome (WHS) and Pitt-Rogers-Danks Syndrome (PRDS)
2)      multicore myopathy/ PT Req.

3)      long QT syndrome genotyping

4)      Hunter Syndrome/ PT Req.


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

"copyright HUM-MOLGEN"
Dear Sir,
dear madam,
I am working in the field of 4p- syndromes, especially Wolf-Hirschhorn
Syndrome (WHS) and Pitt-Rogers-Danks Syndrome (PRDS) to delineate the
critical gene region of these syndromes.
For both syndromes the patients have characteristic facial anomalies
like widely spaced eyes, low set ears and a cleft lip/palate. They
always are mentally retarded due to brain malformation,
microcephaly and severe pre- and postnatal growth retardation.
Both syndromes are caused by subtelomeric deletions of 4p16.3.

I am looking for patient material of patients with either no deletion
(not visible with the common cytogenetic methods) with a WHS or PRDS
phenotype, WHS/PRDS patients with small deletions, but also patients
with a WHS/PRDS phenotype due to an unbalanced (or balanced)
translocation where one of the breakpoints could be (likely) inbetween
the critical gene region of WHS/PRDS.

Thank you very much.
Please contact:
Ingrid Stec, Anthropogenetica
Sylvius Laboratory
Wassenaarseweg 72
2333 AL Leiden
e-mail: ingrid@ruly46.medfac.leidenuniv.nl


I have been diagnosed with multicore myopathy and would be very interested
in any information you could provide.  Thank you for your kind assistance.

Apparent patient location: Canada



I am a cardiologist involved in long QT syndrome genotyping, I would like to
share data and experience with other investigators involved in this disease.
I am also looking for the restriction enzyme BceFI (acggc 12/13) to confirma
a de novo mutation on hERG in a sporadic case of LQTS. In Italy I haven't
been able to find a company selling this enzyme . Can anyone help?

Silvia G Priori, MD, PhD
University of Milan


I found access to your site through the help of the editor of the genetic
weekly.  I am just beginning to use your site to search for specific
information, especially research and live clinical trials worldwide,
regarding Hunter Syndrome or mucopolysaccharidosis lacking the enzyme
iduronate 2 sulfatase.  A friend of mine has a 3 year old son that has just
been diagnosed with Hunters syndrome severe.  To date his symptoms are mild
with hearing loss, limited speech, enlarged liver, clawed hands, and upper
respiratory noise.  I would like any information about outcomes of clinical
trials and the ability to participate in upcoming experiments.  I would like
to know who is really on the ball conducting research in this area.  I
understand the treatment at this time is supportive only, but the genetic
and enzyme replacement therapies are moving so rapidly there is hope.  I
have 15 years experience in the medical field.  All the help you can give
would be greatly appreciated!

Apparent patient location: Europe



Date: Sun, 03 Nov 1996 10:51:45 +0000
 We have a 27-year-old male patient with acute lymphoblastic leukemia B in
complete remission. The patient received 3 g/m2 (for 2.16 m2) of
methotrexate 67 hours ago. The patient developed an acute renal failure
(creatinine 3.8 mg/dl), possibly due to the previous administration of
amphotericin-B and other nephrotoxic drugs, in spite of receiving
hyperhydratation (3 l/m2/dĽa), including bicarbonate. At the present the
creatinine has dropped to 3.1 mg/dl, but the methotrexate levels (67 hours
after the beginning of the methotrexate infusion) are of 28 microMol/L
(!!). The patient is receiving the same hyperhydratation, plasmapheresis (a
session with poor results), charcoal hemoperfusion (two sessions) and a
dose of citrovorum factor (folinic acid) of 1000 mg/m2/3h from the 36 hours
(in that moment the patient had methotrexate level of 126 in his serum).
    We have tried to obtain the enzyme CARBOXYPEPTIDASE G2, but without
results. Apparently a dose of 50 U/kg (for 85 kg) has spectacular effects
and it can repeat at the six hours. Would somebody send us this product
ASAP? Anybody has another idea?
Please, reply us as soon as possible.


Fax: 34-22-66-22-45

Miguel T. Hernandez-Garcia, MD
mthernandez@jet.es   -   mthernandez@ull.es
Internal Medicine/Hematology Department
Hosp. Universit. de Canarias. University of La Laguna
obtained through HEMATOLOGY Physicians Discussion


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