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Cognitive and psychological functioning in fabry disease.
[fabry disease]
Fabry
disease
is
an
X-
linked
lysosomal
storage
disorder
which
can
result
in
renal
,
cardiac
,
and
cerebrovascular
disease
.
Patients
are
at
increased
risk
of
stroke
and
neuroimaging
studies
note
cerebrovascular
pathology
.
This
study
provides
a
cognitive
profile
of
a
cohort
of
individuals
with
Fabry
disease
and
investigates
the
impact
of
pain
,
age
,
renal
,
cardiac
,
and
cerebrovascular
functioning
on
cognition
and
psychological
functioning
.
Seventeen
Fabry
patients
(
12
males
)
with
ages
ranging
25
to
60
years
(
M
=
46
.
6
+
11
.
8
)
,
and
15
age-matched
healthy
controls
(
M
=
46
.
2
+
12
.
7
)
were
administered
a
comprehensive
neuropsychological
battery
.
Fabry
males
demonstrated
slower
speed
of
information
processing
,
reduced
performance
on
measures
of
executive
functions
(
verbal
generation
,
reasoning
,
problem
solving
,
perseveration
)
,
were
more
likely
to
show
clinically
significant
reductions
,
and
were
more
likely
to
report
symptoms
of
anxiety
and
depression
.
Conversely
,
Fabry
females
performed
at
a
similar
level
to
controls
.
Correlational
analyses
indicated
a
link
between
cognitive
and
clinical
measures
of
disease
severity
.
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