Rare Diseases Symptoms Automatic Extraction
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Distress in individuals facing predictive DNA testing for autosomal dominant late-onset disorders: comparing questionnaire results with in-depth interviews. Rotterdam/Leiden Genetics Workgroup.
[hereditary cerebral hemorrhage with amyloidosis]
In
50
%
risk
carriers
for
Huntington
disease
(
n
=
41
)
,
hereditary
cerebral
hemorrhage
with
amyloidosis
Dutch
-
type
(
n
=
9
)
familial
adenomatous
polyposis
coli
(
n
=
45
)
and
hereditary
breast
and
ovarian
cancer
(
n
=
24
)
,
pretest
intrusion
and
avoidance
(
Impact
of
Event
Scale
)
,
anxiety
and
depression
(
Hospital
Anxiety
and
Depression
Scale
)
,
feelings
of
hopelessness
(
Beck
Hopelessness
Scale
)
,
and
psychological
complaints
(
Symptom
Checklist
)
were
assessed
to
determine
their
psychological
well-being
.
The
manner
of
discussing
the
genetic
disorder
,
the
test
,
and
its
implications
during
a
semistructured
interview
(
reflecting
on
one
's
emotions
without
getting
carried
away
or
dismissing
or
minimizing
the
subject
)
was
judged
in
terms
of
coherence
.
Participants
at
risk
for
neurodegenerative
disorders
had
higher
anxiety
and
depression
scores
and
more
psychological
complaints
than
did
those
at
risk
for
cancer
syndromes
.
Those
reporting
high
intrusion
/
high
avoidance
had
higher
anxiety
and
depression
scores
and
more
psychological
complaints
than
did
those
reporting
low
intrusion
/
low
avoidance
.
However
,
the
scoring
of
the
interview
showed
that
participants
reporting
high
intrusion
/
high
avoidance
were
more
reflective
about
their
emotions
without
getting
carried
away
or
dismissing
the
subject
(
e
.
g
.
,
more
coherent
)
than
those
reporting
low
intrusion
/
low
avoidance
.
This
result
suggests
that
participants
with
higher
stress
scores
may
be
actively
dealing
with
the
emotional
implications
of
the
test
,
whereas
those
with
low
stress
scores
may
(
as
yet
)
be
unable
to
face
these
implications
.
It
is
important
to
identify
the
strategy
of
coping
with
threat
to
provide
suitable
counseling
and
necessary
guidance
.
However
,
long
-term
follow-up
is
needed
to
learn
the
consequences
of
a
denial
coping
strategy
for
those
participating
in
a
genetic
testing
program
.
Diseases
Validation
Diseases presenting
"cancer"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
alpha-thalassemia
benign recurrent intrahepatic cholestasis
cadasil
canavan disease
carcinoma of the gallbladder
cholangiocarcinoma
coats disease
congenital adrenal hyperplasia
congenital diaphragmatic hernia
cowden syndrome
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
heparin-induced thrombocytopenia
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
hodgkin lymphoma, classical
inclusion body myositis
junctional epidermolysis bullosa
kabuki syndrome
kallmann syndrome
kindler syndrome
lamellar ichthyosis
liposarcoma
locked-in syndrome
lymphangioleiomyomatosis
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
oral submucous fibrosis
papillon-lefèvre syndrome
pendred syndrome
pleomorphic liposarcoma
primary effusion lymphoma
proteus syndrome
pyomyositis
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
sneddon syndrome
systemic capillary leak syndrome
triple a syndrome
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated