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The relationship between familial Mediterranean fever gene (MEFV) mutations and clinical and radiologic parameters in multiple sclerosis patients.
[familial mediterranean fever]
Objective
:
Central
nervous
system
(
CNS
)
involvement
in
patients
with
familial
Mediterranean
fever
(
FMF
)
is
considerably
rare
.
Patients
with
FMF
may
exhibit
clinical
and
radiologic
symptoms
similar
to
multiple
sclerosis
(
MS
)
.
However
,
the
impact
of
the
Familial
Mediterranean
Fever
Gene
(
MEFV
)
mutations
on
the
clinical
course
of
MS
is
not
fully
understood
as
yet
.
Methods
:
In
our
study
,
we
investigated
the
presence
of
probable
MEFV
mutations
in
patients
diagnosed
with
definite
MS
and
the
association
of
these
mutations
with
the
clinical
course
,
radiologic
characteristics
and
disability
status
of
the
individuals
.
A
total
of
105
patients
diagnosed
with
definite
MS
according
to
the
McDonald
criteria
and
a
control
group
of
112
non-symptomatic
individuals
were
included
in
the
study
.
Results
:
Thirty
-
seven
patients
(
35
.
2
%
)
had
MEFV
gene
mutations
;
three
were
compound
heterozygotes
(
M
694
V
/
E
148
Q
;
M
694
V
/
V
726
A
;
P
369
S
/
E
148
Q
)
and
one
was
homozygous
for
P
369
S
.
No
statistically
significant
differences
were
found
among
patients
with
MS
and
healthy
individuals
with
respect
to
existing
mutations
.
In
addition
,
we
did
not
observe
a
statistically
significant
relationship
between
MEFV
mutations
and
the
gender
of
the
patients
,
oligoclonal
band
(
OCB
)
positivity
,
Expanded
Disability
Status
Scale
(
EDSS
)
,
disease
onset
age
,
clinical
presentation
,
affected
neurologic
systems
,
existence
of
spinal
lesions
,
response
to
immunomodulatory
treatment
,
time
to
reach
EDSS
scores
of
3
and
6
,
the
number
of
attacks
and
the
average
number
of
lesions
on
a
brain
MRI
.
Conclusion
:
Our
results
indicate
that
MEFV
gene
mutations
do
not
affect
the
neurologic
prognosis
in
patients
with
MS
.
However
,
additional
research
studies
involving
more
patients
with
MS
and
clinical
forms
are
warranted
to
confirm
our
results
.
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