Rare Diseases Symptoms Automatic Extraction
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A random Abstract
Our Project
Our Team
Neurofibromatosis and childhood leukaemia/lymphoma: a population-based UKCCSG study.
[monosomy 21]
There
is
a
well-known
raised
risk
of
leukaemia
in
children
with
neurofibromatosis
type
1
(
NF-
1
)
.
We
carried
out
the
first
detailed
population-based
study
of
leukaemia
and
non-
Hodgkin
lymphoma
(
NHL
)
associated
with
NF-
1
in
order
to
estimate
the
risk
and
elucidate
the
relationship
between
these
conditions
.
Over
the
17
year
study
period
there
were
five
cases
of
chronic
myelomonocytic
leukaemia
(
CMML
)
in
patients
with
NF-
1
(
relative
risk
221
;
95
%
CI
71
-
514
)
,
12
cases
of
acute
lymphoblastic
leukaemia
(
ALL
)
(
relative
risk
5
.
4
;
95
%
CI
2
.
8
-
9
.
4
)
and
five
cases
of
NHL
(
relative
risk
10
.
0
;
95
%
CI
3
.
3
-
23
.
4
)
.
Marrow
cytogenetics
could
be
reviewed
for
seven
patients
.
Specific
abnormalities
found
were
monosomy
21
in
a
child
with
CMML
and
7
p
+
,
17
p
-
in
a
child
with
ALL
.
No
abnormalities
were
reported
of
17
q
,
which
includes
the
NF
1
gene
.
CMML
occurred
predominantly
in
boys
,
who
also
had
a
family
history
of
NF-
1
.
ALL
and
NHL
were
more
often
found
in
children
with
no
previous
family
history
.
Diseases
Validation
Diseases presenting
"hodgkin lymphoma"
symptom
esophageal adenocarcinoma
hodgkin lymphoma, classical
monosomy 21
primary effusion lymphoma
severe combined immunodeficiency
systemic capillary leak syndrome
waldenström macroglobulinemia
This symptom has already been validated