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Megacystis-microcolon-intestinal hypoperistalsis syndrome and the absence of the alpha3 nicotinic acetylcholine receptor subunit.
[megacystis-microcolon-intestinal hypoperistalsis syndrome]
The
megacystis-
microcolon
-
intestinal
hypoperistalsis
syndrome
(
MMIHS
)
is
a
rare
disease
of
childhood
that
presents
early
with
intestinal
hypoperistalsis
,
hydronephrosis
,
and
hydroureters
.
Transgenic
mice
that
lack
the
alpha
3
subunit
containing
nicotinic
acetylcholine
(
nAChR
)
have
a
phenotype
similar
to
that
of
MMIHS
.
We
examined
the
expression
of
this
subunit
in
control
and
MMIHS
tissue
derived
from
patients
using
in
situ
hybridization
(
ISH
)
and
immunocytochemistry
(
ICC
)
.
In
controls
,
both
techniques
showed
a
wide
distribution
of
alpha
3
nAChRs
present
in
ganglion
cells
,
muscle
,
and
epithelium
.
By
contrast
,
most
MMIHS
tissue
gave
negative
staining
with
ISH
and
variable
results
with
ICC
.
These
observations
are
consistent
with
a
lack
of
alpha
3
nAChRs
contributing
to
the
pathogenesis
of
MMIHS
.
Diseases
Validation
Diseases presenting
"microcolon"
symptom
megacystis-microcolon-intestinal hypoperistalsis syndrome
This symptom has already been validated