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A random Abstract
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Neuroependymal denudation is in progress in full-term human foetal spina bifida aperta.
[hydrocephalus with stenosis of the aqueduct of sylvius]
In
human
spina
bifida
aperta
(
SBA
)
,
cerebral
pathogenesis
[
hydrocephalus
,
Sylvius
aqueduct
(
SA
)
stenosis
and
heterotopias
]
is
poorly
understood
.
In
animal
models
,
loss
of
ventricular
lining
(
ependymal
denudation
)
causes
SA
stenosis
and
hydrocephalus
.
We
aimed
to
investigate
whether
ependymal
denudation
also
takes
place
in
human
foetal
SBA
.
Considering
that
ependymal
denudation
would
be
related
to
alterations
in
junction
proteins
,
sections
through
SA
of
five
SBA
and
six
control
foetuses
(
gestational
ages
ranged
between
37
and
40
weeks
)
were
immunostained
for
markers
of
ependyma
(
caveolin
1
,
βIV-tubulin
,
S
100
)
,
junction
proteins
(
N-
cadherin
,
connexin-
43
,
neural
cell
adhesion
molecule
(
NCAM
)
,
blood
vessels
(
Glut-
1
)
and
astrocytes
[
glial
fibrillary
acidic
protein
(
GFAP
)
]
.
In
control
foetuses
,
ependymal
denudation
was
absent
.
In
SBA
foetuses
different
stages
of
ependymal
denudation
were
observed
:
(
i
)
intact
ependyma
/
neuroepithelium
;
(
ii
)
imminent
ependymal
denudation
(
with
abnormal
subcellular
location
of
junction
proteins
)
;
(
iii
)
ependymal
denudation
(
with
protrusion
of
neuropile
into
SA
,
formation
of
rosettes
and
macrophage
invasion
)
;
(
iv
)
astroglial
reaction
.
It
is
suggested
that
abnormalities
in
the
formation
of
gap
and
adherent
junctions
result
in
defective
ependymal
coupling
,
desynchronized
ciliary
beating
and
ependymal
denudation
,
leading
to
hydrocephalus
.
The
presence
of
various
stages
of
ependymal
denudation
within
the
same
full-term
SBA
foetuses
suggests
continuation
of
the
process
after
birth
.
Diseases
Validation
Diseases presenting
"hydrocephalus"
symptom
achondroplasia
alexander disease
canavan disease
congenital toxoplasmosis
harlequin ichthyosis
hirschsprung disease
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
krabbe disease
monosomy 21
proteus syndrome
severe combined immunodeficiency
sneddon syndrome
von hippel-lindau disease
wiskott-aldrich syndrome
This symptom has already been validated