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Familial Cushing syndrome due to thymic carcinoids in a multiple endocrine neoplasia type 1 kindred.
[cushing syndrome]
The
objective
of
this
study
is
to
present
a
familial
Cushing
syndrome
(
CS
)
caused
by
multiple
endocrine
neoplasia
type
1
(
MEN-
1
)
-
associated
thymic
carcinoid
.
Immunohistochemistry
,
gene
sequencing
,
loss
of
heterozygosity
analysis
,
and
Western
blot
were
used
to
determine
the
expression
of
ACTH
in
MEN-
1
-
related
thymic
tumors
,
MEN
1
gene
mutation
,
the
pattern
and
extent
of
allelic
deletion
,
and
the
expression
of
Menin
in
MEN-
1
-
associated
tumors
,
respectively
.
Tumor
cells
from
thymus
ectopic
-secreted
ACTH
.
A
deletion
involving
the
MEN
1
gene
locus
was
confirmed
.
The
expression
of
Menin
in
MEN-
1
-
associated
tumors
declined
.
To
conclude
,
we
presented
an
unusual
kindred
of
MEN-
1
,
which
pointed
out
the
significance
of
making
screening
of
MEN-
1
for
both
male
and
female
patients
with
CS
and
thymic
carcinoid
.
Diseases
Validation
Diseases presenting
"tumor cells"
symptom
alpha-thalassemia
carcinoma of the gallbladder
cholangiocarcinoma
cushing syndrome
dedifferentiated liposarcoma
dentin dysplasia
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
hodgkin lymphoma, classical
junctional epidermolysis bullosa
kindler syndrome
liposarcoma
lymphangioleiomyomatosis
pleomorphic liposarcoma
primary effusion lymphoma
severe combined immunodeficiency
triple a syndrome
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wiskott-aldrich syndrome
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