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Interstitial cells of Cajal in the human normal urinary bladder and in the bladder of patients with megacystis-microcolon intestinal hypoperistalsis syndrome.
[megacystis-microcolon-intestinal hypoperistalsis syndrome]
To
investigate
the
distribution
of
c-kit-
positive
interstitial
cells
of
Cajal
(
ICCs
)
in
normal
bladder
and
bladders
from
patients
with
megacystis
-
microcolon
-
intestinal
peristalsis
syndrome
(
MMIHS
,
a
rare
congenital
and
generally
fatal
cause
of
functional
intestinal
obstruction
in
the
newborn
)
,
the
most
characteristic
feature
of
which
is
abdominal
distension
caused
by
a
distended
unobstructed
urinary
bladder
.
Full-thickness
bladder
specimens
were
obtained
from
four
infants
with
MMIHS
and
four
controls
,
and
processed
as
paraffin-wax
and
frozen
sections
.
Sections
were
assessed
using
single
immunohistochemistry
with
monoclonal
and
polyclonal
anti-c-kit
antibodies
.
Anti-alpha-smooth
muscle
actin
(
SMA
)
antibody
was
used
to
investigate
the
contractile
apparatus
in
smooth
muscle
cells
of
the
urinary
bladder
.
Specimens
were
examined
using
light
and
confocal
scanning
microscopy
.
There
were
many
c-kit
positive
ICCs
in
the
normal
urinary
bladder
,
appearing
as
small
,
long
,
bipolar
cells
with
only
two
long
and
several
short
processes
.
In
contrast
,
ICCs
were
absent
in
the
MMIHS
bladder
.
alpha-
SMA
immunoreactivity
was
lower
in
MMIHS
urinary
bladder
than
in
control
sections
.
This
study
shows
for
the
first
time
the
presence
of
c-kit-
positive
ICCs
in
the
normal
human
urinary
bladder
.
The
lack
of
ICCs
in
the
MMIHS
bladder
may
contribute
to
the
voiding
dysfunction
in
this
disease
.
Diseases
Validation
Diseases presenting
"first time"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
adrenomyeloneuropathy
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
carcinoma of the gallbladder
cholangiocarcinoma
classical phenylketonuria
congenital adrenal hyperplasia
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dentin dysplasia
dentinogenesis imperfecta
dracunculiasis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
fabry disease
familial mediterranean fever
gm1 gangliosidosis
harlequin ichthyosis
heparin-induced thrombocytopenia
hirschsprung disease
hodgkin lymphoma, classical
holt-oram syndrome
hydrocephalus with stenosis of the aqueduct of sylvius
junctional epidermolysis bullosa
kabuki syndrome
kallmann syndrome
liposarcoma
locked-in syndrome
lymphangioleiomyomatosis
malignant atrophic papulosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
omenn syndrome
oral submucous fibrosis
papillon-lefèvre syndrome
pendred syndrome
phenylketonuria
primary effusion lymphoma
primary hyperoxaluria type 1
severe combined immunodeficiency
sneddon syndrome
triple a syndrome
trochlear dysplasia
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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