Rare Diseases Symptoms Automatic Extraction
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A random Abstract
Our Project
Our Team
[Molecular pathological diagnosis of soft tissue tumors].
[pleomorphic liposarcoma]
Among
soft
tissue
tumors
,
which
have
some
difficulties
in
diagnosis
and
treatment
,
it
is
known
that
distinctive
chromosomal
and
gene
abnormalities
such
as
chromosomal
translocations
and
fusion
genes
resulting
from
these
translocations
can
be
detected
.
We
have
focused
on
the
research
and
development
of
split
-signal
DNA
probes
for
FISH
analysis
,
which
can
establish
an
accurate
diagnosis
by
detecting
the
specific
fusion
genes
for
soft
tissue
tumors
.
Using
these
probes
as
well
as
commercially
available
probes
,
we
conduct
the
FISH
analysis
on
formalin-fixed
,
paraffin-embedded
histological
specimens
to
apply
these
methods
to
the
routine
pathological
diagnosis
.
In
this
article
,
we
introduce
(
1
)
principle
of
detecting
fusion
genes
by
RT-PCR
and
FISH
,
(
2
)
outlines
of
FISH
using
split
-signal
probes
,
and
(
3
)
results
of
FISH
analysis
in
Ewing
sarcoma
/
PNET
,
rhabdomyosarcoma
,
pleomorphic
liposarcoma
and
extraskeletal
myxoid
chondrosarcoma
.
Diseases
Validation
Diseases presenting
"and"
symptom
achondroplasia
adrenomyeloneuropathy
aniridia
carcinoma of the gallbladder
cutaneous mastocytosis
cystinuria
esophageal squamous cell carcinoma
harlequin ichthyosis
hodgkin lymphoma, classical
hydrocephalus with stenosis of the aqueduct of sylvius
kallmann syndrome
liposarcoma
locked-in syndrome
neonatal adrenoleukodystrophy
omenn syndrome
oral submucous fibrosis
pleomorphic liposarcoma
primary hyperoxaluria type 1
proteus syndrome
pyomyositis
pyruvate dehydrogenase deficiency
sneddon syndrome
triple a syndrome
trochlear dysplasia
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