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  Agnes Tay: DIAG:4 messages, 2 pt requests  

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Subject: DIAG:4 messages, 2 pt requests
From: Agnes Tay <mcbtayhn@leonis.nus.sg>
Date: Thu, 10 Apr 1997 15:05:04 +1410

           HUM-MOLGEN  DIAGnostics/Clinical Research

This DIAG message contains  4 submessage(s),  2 patient requests:

1. Pseudoxanthoma Elasticum

2. Hirschsprung--pt request

3. Myopathy--pt request

4. hemoglobin structure

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

1. Pseudoxanthoma Elasticum

I was recently consulted by a family with an isolated case of
pseudoxanthoma elasticum.  In reviewing the litterature and OMIM I was
struck by how vague the information was on mode of inheritance and risks
for other members of the family. I would therefore like to contact medical
and molecular geneticists with special expertise in this condition for
further information.

Sincerely yours,

Jon J. Jonsson, M.D., Ph.D.
Docent and Director
Department of Clinical Biochemistry
Landspitalinn - University Hospital of Iceland
101 Reykjavik

Tel.: 011-354-560-1840
FAX:  011-354-560-1810
email:  jonjj@rsp.is
2. Hirschsprung--pt request
I'm from Venice, Italy.
I have a very serious health problem and I need helpt o resolve it. I am 15
years old and I have suffered different surgical operations till now, but I
had no profit.
I look for a contact with whoever has had or knows the intestinal congenital
illness called Megacolon or Morbo of HIRSCHSPRUNG, suffered surgical
operation and is between 12 and 20 years old.
I look for a contact also with doctors and other persons able to experts
help me.

3. Myopathy--pt request
Help! My 10 yr old daughter has been clinically evaluated with an
undiagnosable myopathy (proximal/hip-girdle muscle weakness with
hypertrophied and hypotrophied muscle groups).  Three years and countless
tests have resulted in no firm diagnosis. Surgically repaired Tetralogy of
Fallot heart condition at age 3.3
Here is what I know technically about our little girl:
CBC (results high): Phosphorus (5.4), Creatinine (0.4), T-4 (11.2),
Alkaline Phosphatase (175), SGPT (417), SGOT (239), CPK (7650-9700);
Creatinine low, Carnitine free < ref value, Dystrophin Neutral and
Acid Maltase levels unremarkable;
EMG: Complex repetitive discharges (2+CRD), MUP low amplitude,
suggestive of chronic myopathic process. Denervation changes.
Biomed: Copper low in Cytochrome Oxidase; O2 consumption in Mitochondria
increased above normal,  nanoatoms of O2 per Cytochrome a3 is 0.77
Complex NADH-cyt C Reductase enzyme are high (1.986 umoles/min/g)
Genetic: X-inactivation normal (known proteins ok, triple repeats negative,
no family history of Muscular Dystrophy; Phenotype suggests
Dystrophinopathy, but X-Inactivation tests did not document a protein
abnormality. Negative manifestation carrier for Duchenne and Beckers
Biopsy:  Abnormal; mild focal inflammatory response, increase in both
Endomysial and Perimysial connective tissue and fat.  Abnormal amount
of Polysaccharides or neutral fats.  NADH-TR reaction shows
granularity of degenerative and regenerative fibers (70% type I)
Immuno: Immunoflourescence suggests only secondary protein deficiency due
to all fibers variable versus 3 test proteins (Adhalin, Merosin, and
Beta-Dystoglycan). Many more positive than negative fibers exist.

Top biomedical pharmacologists suggest there is nothing in the literature
similar to this case (i.e. Michele is a unique test case). Thanks from
Michele (in advance) to all who read this.

4. Hemoglobin Structure

Dear Hum-molgen subscribers,

I have a doubt about the composition of the haemoglobin molecule in some
special circumstances.

1.- Individual with heterozygous status for Haemoglobin A and Haemoglobin S
(Sickle cell trait). As we known, the haemoglobin molecule is made up of 2
alpha chains plus 2 beta chains. In the case referred to above, is it
possible to find hemoglobin molecules constructed of 2 alpha chains plus 1
normal-beta chain and 1 mutant(S)-beta chain, or must the haemoglobin
molecules in those individuals be constructed of 2 alpha chains plus 2
normal-beta chains, and 2 alpha chains and 2 mutant(S)-beta chains?

2.- Foetal haemoglobin is made up of 2 alpha chains and two gamma chains.
As we know, there are two gamma chains in each chromosome 11; they code
for gamma chains differing in the aminoacid #136: glycine versus alanine.
The question is: Can we find foetal haemoglobin molecules composed of 2
alpha chains plus 1 gamma-G chain and 1 gamma-A chain, or must foetal
haemoglobin molecules be constructed of 2 alpha chains plus 2 gamma-G
chains, and 2 alpha chains plus 2 gamma-A chains?

Sorry to bother you with this, but any help would be welcomed.

Thanks in advance.

Jose Martin                                Tel.  +34 1 3978206
gpepe@uam.es                               Fax   +34 1 3978344
Dpto. de Biologia (Unidad de Genetica)
Edificio de Biologia (A-207), Universidad Autonoma
28049 Madrid - Spain

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