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Subject: DIAG: 5 messages, 1 patient request
From: Agnes Tay <mcbtayhn@leonis.nus.sg>
Date: Mon, 30 Jun 1997 07:55:55 +0500

          HUM-MOLGEN  DIAGnostics/Clinical Research

This DIAG message contains 5 submessages, 1 patient request:

1. Wolman Disease

2. AR Hydrocephalus

3. Spondylo-epiphyseal dsyplasia SEDC/COL2A1--Patient Request

4. LDL Binding Assays?

5. Neuroblastoma

Carlo Gambacorti MD, Editor,            Agnes Tay, MD PhD, Asst Editor
Human Molecular Genetics Network
Diagnostics/Clinical Research Section


1. Wolman Disease
I need information about the Wolman disease. I have to help someone who's
asking for information because a 3 year old kid has this disease and they
say that they have no cure.  Is that true?  What can be done?  I"ll
appreciate any information that you can give me.

Jimena Antonelli
email: jimant@overnet.com.ar

2. AR Hydrocephalus

There has been a patient seen through my center
that has had three fetuses diagnosed with
hydrocephaly by prenatal ultrasound evaluation.
The twin of one of these fetues was diagnosed
with microcephaly by ultrasound.  An autopsy
subsequently performed did not identify
microcephaly, however, revealed extensive gliosis
in the brain and damage of underlying structures.
This was thought to have resulted from in utero
hypoxia.  Chromosome analysis and infection
studies were negative for all fetuses (1/3 of fetuses
with hydrocephaly was female by chromosomes).
The patient and husband are said to be first
cousins and of Arabic descent. The husband's
niece along with a distant relative are suspected
to have hydrocephaly.  DNA has been stored on
the fetus with the brain abnormalities and one
male fetus with hydrocephaly.  Please contact me
if you are aware of anyone who would be
interested in studying or offering DNA testing
to this family.

Teresa Brady
email: tbrady@moose.med.wayne.edu

3. Spondylo-epiphyseal dsyplasia SEDC/COL2A1--Patient Request
Apparent Patient Location: UK

Does anyone have ANY information on research / gene therapy studies for
treatment of SEDC ? I am the parent of an affected child.

Many Thanks


4. LDL Binding Assays?

Are any laboratories currently doing LDL binding activity assays on
cultured fibroblasts or amniocytes?

Chris Friedrich, M.D., Ph.D.
Assistant Professor of Medicine, Division of Medical Genetics
University of Pennsylvania School of Medicine
Philadelphia, PA 19104

(215) 662-4740

5. Neuroblastoma

Dear Sir
I am an Internet Provider from Italy and I am  requesting help for my
little friend suffering  from neuroblastoma.
Here there is a summary of his clinical report.
Please send me information and contacts to help my little friend.

The two and a half year old child came to us on 8th April 1997 as she had
been suffering from fever and pains in the joints for a month and a half.
Palpable liver at about 2 cm from the costal arcade.

09/04/97: Bone marrow aspirate: 5M 31%; SE 2%; SL 43%; Blasts 24%;
reduced cellularity, absent megakaryocytos, presence of numerous
rosetta shaped formations; immunologic phenotype: CD 56+/CD 45- : 57%;

10/04/97: Abdomen echography : modest hepatomegaly, in the presumed
right suprarenal seat, between right superior renal pole and adjacent
right hepatic lober territory a rough solid plastic foam echographically
dishomogeneous is evident. Curvilinear trace on the contigous fragment
of the inferior vena cava (diameter of the plastic foam 5,2 X 4,4 cm);
in axis the aorta; not evident retroperitoneal adenopathies.
VMA : 5.6 mg/24h;
CRANIUM CAT: Patient uncooperative. As for as it can be valued, the
ventricular system seems to be in axis, of normal morphology and
dimensions. Neither hypodense lesions to the cerebral parenchyma detriment
nor pathological impregnations after contrast medium seem to be
THORAX AND SUP. ABDOMEN CAT: test carried out without and with
contrast. Right and left lung, nothing to remark. Regular mediastinal
organs according to the age. In correspondence of the right adrenal
gland a solid formation modically dishomogeneous with regular margins
of 6x5.5 cm is evident; not evident loco-regional adenopathies. Liver,
pancreas, spleen and loins: nothing to remark. Regular bladder.
12/04/97: Skeleton RX: notable diffused microlacunar porosis of the
brain case, with a finely "worm-holed" aspect. Numerous digitated
prints. Wide and bad delimitable sella turcica for probable bony
rarefaction in sphenoidal seat.
17/04/97: Suprarenal neoformation removal operation: oblique
overumbilical transversallaparothomy upwards on the right. Not any
continuity relationship between the superior pole and the same mass.
Roundish pseudocapsule-shaped mass, on the superior surŁace of which
you can see the adrenal gland appearing as unrolled and transversely
disposed on the mass. The mass moves only partially the VCI. No
pathological lymph-nodes seem to be, so it can be removed in toto
together with the cavity covering. No damage for liver and other
Complementary appendicectomy.
24/04/97: histological report: macroscopic aspect: oval shaped
neoformation of the right adrenal gland of 6x5, 5x4 cm of 60 g of
weight, soŁt consistence. At the cut grey-reddish colour, with little
hemorragic necrotic centres of infection.
DIAGNOSIS: indifferentiated neuroblastoma of the adrenal gland with a
high mitotic index infiltrating the perisuprarenal adipose cellular
tissue with focal interest in the surgical margins of resection
(neuroblastoma with indifferentiated  poor stroma at high MKI acc. to
Shimada; indifferentiated neuroblastoma with high mitotic index acc.
to Joshi).

26/04/97: Return at ward. The patient begins the therapy according to
D-CECAT: Desferal ev for 3 days; THIOTEPA ev for 3 days; VEPESIDE ev
for 3 days; ENDOXAN ev for 2 days; PARAPLATINO ev for 2 days.
01/05/97: the patient finishes I cycle of therapy
02/05/97: quite good general conditions. Presence of on the right more
evident overorbital ecchymosis. Apyrexia
19 /05 97 Negative bony scintigraphy.

Please contact me :

Ing. Antonio Manno
email: antonio@ba.dada.it

Tel ++39/883/330000
Fax ++39/883/347357

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