Rare Diseases Symptoms Automatic Extraction
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A random Abstract
Our Project
Our Team
[Familial Mediterranean fever - first experiences in Slovakia].
[familial mediterranean fever]
Familial
Mediterranean
fever
(
FMF
)
is
the
most
prevalent
genetically
determined
autoinflammatory
disease
.
FMF
significantly
decreases
the
quality
of
life
and
limits
life
expectancy
due
to
the
development
of
amyloidosis
in
affected
individuals
.
Prevalence
of
FMF
is
highest
in
the
south-
eastern
Mediterraneans
.
In
other
parts
of
the
world
,
its
occurance
is
often
restricted
to
high
-risk
ethnic
groups
.
In
Central
Europe
,
experience
with
FMF
is
scarse
to
none
,
as
in
the
case
of
Slovakia
,
where
no
cases
have
been
reported
,
so
far
.
Herein
we
report
the
first
five
patients
(
3
adults
and
2
children
,
4
native
Slovaks
)
in
whom
the
diagnosis
of
FMF
could
be
confirmed
in
Slovakia
.
Our
experience
demonstrates
that
FMF
does
occur
in
low
-risk
populations
in
Central
Europe
.
Due
to
low
prevalence
and
lack
of
experience
,
FMF
diagnosis
may
be
significantly
delayed
(
4
.
5
-
30
years
)
and
undiagnosed
cases
are
to
be
expected
in
our
population
.
Diseases
Validation
Diseases presenting
"fever"
symptom
22q11.2 deletion syndrome
acute rheumatic fever
alexander disease
allergic bronchopulmonary aspergillosis
canavan disease
carcinoma of the gallbladder
child syndrome
congenital toxoplasmosis
cushing syndrome
cystinuria
dracunculiasis
erdheim-chester disease
esophageal adenocarcinoma
esophageal carcinoma
familial mediterranean fever
focal myositis
hodgkin lymphoma, classical
lamellar ichthyosis
legionellosis
locked-in syndrome
malignant atrophic papulosis
neonatal adrenoleukodystrophy
neuralgic amyotrophy
oculocutaneous albinism
papillon-lefèvre syndrome
pyomyositis
pyruvate dehydrogenase deficiency
scrub typhus
severe combined immunodeficiency
sneddon syndrome
systemic capillary leak syndrome
triple a syndrome
typhoid
waldenström macroglobulinemia
wolf-hirschhorn syndrome
This symptom has already been validated