Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Coma and disorders of consciousness.
[locked-in syndrome]
Patients
in
coma
,
vegetative
state
/
unresponsive
wakefulness
syndrome
,
and
in
minimally
conscious
states
pose
medical
,
scientific
,
and
ethical
challenges
.
As
patients
with
disorders
of
consciousness
are
by
definition
unable
to
communicate
,
the
assessment
of
pain
,
quality
of
life
,
and
end-of-life
preferences
in
these
conditions
can
only
be
approached
by
adopting
a
third
-person
perspective
.
Surveys
of
healthcare
workers
'
attitudes
towards
pain
and
end
of
life
in
disorders
of
consciousness
shed
light
on
the
background
of
clinical
reality
,
where
no
standard
medical-legal
framework
is
widely
accepted
.
On
the
other
hand
,
patients
with
locked-
in
syndrome
,
who
are
severely
paralyzed
but
fully
conscious
,
can
inform
about
subjective
quality
of
life
in
serious
disability
and
help
us
to
understand
better
the
underlying
factors
influencing
happiness
in
disease
.
In
the
medico-legal
arena
,
such
ethical
issues
may
be
resolved
by
previously
drafted
advance
directives
and
,
when
absent
,
by
surrogate
representation
.
Lately
,
functional
medical
imaging
and
electrophysiology
provide
alternative
means
to
communicate
with
these
challenging
patients
and
will
potentially
mediate
to
extract
responses
of
medical-ethical
content
.
Eventually
,
the
clinical
translation
of
these
advanced
technologies
in
the
medical
routine
is
of
paramount
importance
for
the
promotion
of
medical
management
of
these
challenging
patients
.
Diseases
Validation
Diseases presenting
"pain"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
adrenomyeloneuropathy
aniridia
aromatase deficiency
carcinoma of the gallbladder
cholangiocarcinoma
coats disease
congenital diaphragmatic hernia
congenital toxoplasmosis
cushing syndrome
cutaneous mastocytosis
cystinuria
dedifferentiated liposarcoma
dentin dysplasia
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
focal myositis
hirschsprung disease
hodgkin lymphoma, classical
holt-oram syndrome
junctional epidermolysis bullosa
kabuki syndrome
kindler syndrome
lamellar ichthyosis
liposarcoma
locked-in syndrome
lymphangioleiomyomatosis
malignant atrophic papulosis
neuralgic amyotrophy
oligodontia
oral submucous fibrosis
papillon-lefèvre syndrome
phenylketonuria
pleomorphic liposarcoma
primary hyperoxaluria type 1
proteus syndrome
pyomyositis
scrub typhus
sneddon syndrome
systemic capillary leak syndrome
thoracic outlet syndrome
trochlear dysplasia
typhoid
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
wolf-hirschhorn syndrome
This symptom has already been validated