Rare Diseases Symptoms Automatic Extraction
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A random Abstract
Our Project
Our Team
Evaluation of monoclonal and oligoclonal gammopathies in a pediatric population in a major urban center.
[waldenström macroglobulinemia]
A
growing
body
of
literature
has
documented
monoclonal
proteins
in
children
.
Little
is
known
about
their
associated
diagnoses
.
We
retrospectively
evaluated
all
patients
(
aged
0
-
21
years
)
with
abnormal
findings
on
serum
immunofixation
electrophoresis
(
SIFE
)
from
2005
to
2011
.
We
also
documented
the
monoclonal
immunoglobulin
classes
and
light
chain
types
involved
and
then
correlated
these
data
with
the
clinical
diagnoses
.
A
total
of
695
SIFE
tests
were
performed
on
this
patient
population
.
Of
these
,
95
SIFE
tests
(
14
%
)
identified
a
gammopathy
(
from
83
different
patients
)
,
and
of
these
,
74
(
11
%
)
demonstrated
only
a
monoclonal
gammopathy
(
from
63
different
patients
)
.
The
most
common
associated
diagnosis
in
the
study
interval
was
ataxia-
telangiectasia
(
22
%
)
.
No
patient
in
the
study
population
was
diagnosed
with
multiple
myeloma
or
Waldenström
macroglobulinemia
.
The
significance
and
presence
of
a
monoclonal
or
oligoclonal
gammopathy
in
pediatric
and
young
adult
populations
is
distinct
from
that
seen
in
adults
.
Diseases
Validation
Diseases presenting
"multiple myeloma"
symptom
erdheim-chester disease
esophageal adenocarcinoma
familial mediterranean fever
severe combined immunodeficiency
systemic capillary leak syndrome
waldenström macroglobulinemia
wolf-hirschhorn syndrome
This symptom has already been validated
