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Developmental markers of ganglion cells in the enteric nervous system and their application for evaluation of Hirschsprung disease.
[hirschsprung disease]
Hirschsprung
disease
(
HSCR
)
is
a
congenital
disease
resulting
from
failure
of
neural
crest-derived
ganglion
cells
to
colonize
the
colon
.
Conventional
diagnostic
methods
are
insufficient
for
evaluating
the
'
functional
'
prognosis
of
HSCR
.
In
order
to
elucidate
the
maturation
of
ganglion
cells
,
17
immunohistochemical
markers
were
examined
.
We
examined
the
digestive
tracts
of
2
human
early
delivery
patients
,
2
miniature
swine
fetuses
,
4
little
infants
,
3
infants
,
3
children
,
6
adults
,
and
3
aged
individuals
.
With
increasing
age
,
the
labeling
index
(
LI
)
for
both
calretinin
and
tyrosine
hydroxylase
(
TH
)
increased
,
whereas
that
for
SOX
10
decreased
.
We
then
examined
the
'
transitional
zone
'
of
HSCR
in
21
affected
patients
and
18
controls
for
these
three
markers
.
The
LI
of
calretinin
and
TH
were
significantly
lower
than
in
the
controls
(
median
:
3
.
7
in
HSCR
and
8
.
2
in
controls
,
P
<
0
.
001
,
median
:
27
.
9
in
HSCR
and
44
.
4
in
controls
,
P
<
0
.
001
,
respectively
)
.
In
contrast
,
the
LI
for
SOX
10
showed
no
significant
difference
(
median
:
33
.
7
in
HSCR
and
29
.
2
in
controls
,
P
=
0
.
666
)
however
,
hierarchical
cluster
analysis
was
able
to
divide
HSCR
patients
into
two
groups
.
These
results
suggest
that
immature
ganglion
cells
are
present
in
the
transitional
zone
of
HSCR
,
and
that
HSCR
may
have
two
different
pathophysiological
processes
.
Diseases
Validation
Diseases presenting
"congenital disease"
symptom
achondroplasia
coats disease
congenital toxoplasmosis
dentin dysplasia
hirschsprung disease
holt-oram syndrome
homocystinuria without methylmalonic aciduria
lamellar ichthyosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
oligodontia
omenn syndrome
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